Articles+ start Author ""Robin, Jacqueline,"" Database Gale Academic OneFile Select Database MEDLINE Database Academic Search Premier Database British Library Document Supply Centre Inside Serials & Conference Proceedings

articles+ search results

862 articles+ results

1 - 100
View results as:
Number of results to display per page

1. d-Amino acids: new clinical pathways for brain diseases. [2023]

  • Souza INO, Roychaudhuri R, de Belleroche J, and Mothet JP
  • Trends in molecular medicine [Trends Mol Med] 2023 Dec; Vol. 29 (12), pp. 1014-1028. Date of Electronic Publication: 2023 Sep 26.
Subjects
Humans, Critical Pathways, Central Nervous System metabolism, Brain metabolism, Amino Acids metabolism, and Alzheimer Disease metabolism
Abstract
Free d-amino acids (d-AAs) are emerging as a novel and important class of signaling molecules in many organs, including the brain and endocrine systems. There has been considerable progress in our understanding of the fundamental roles of these atypical messengers, with increasingly recognized implications in a wide range of neuropathologies, including schizophrenia (SCZ), epilepsy, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), substance abuse, and chronic pain, among others. Research has enabled the discovery that d-serine, d-aspartate and more recently d-cysteine are essential for the healthy development and function of the central nervous system (CNS). We discuss recent progress that has profoundly transformed our vision of numerous physiological processes but has also shown how d-AAs are now offering therapeutic promise in clinical settings for several human diseases.
Competing Interests: Declaration of interests The authors declare no competing interests.
(Copyright © 2023 Elsevier Ltd. All rights reserved.)

2. Invasive Endotyping in Patients With Angina and No Obstructive Coronary Artery Disease: A Randomized Controlled Trial. [2023]

  • Sidik NP, Stanley B, Sykes R, Morrow AJ, Bradley CP, McDermott M, Ford TJ, Roditi G, Hargreaves A, Stobo D, Adams J, Byrne J, Mahrous A, Young R, Carrick D, McGeoch R, Corcoran D, Lang NN, Heggie R, Wu O, McEntegart MB, McConnachie A, and Berry C
  • Circulation [Circulation] 2023 Oct 05. Date of Electronic Publication: 2023 Oct 05.
Abstract
Background: We investigated the usefulness of invasive coronary function testing to diagnose the cause of angina in patients with no obstructive coronary arteries.
Methods: Outpatients referred for coronary computed tomography angiography in 3 hospitals in the United Kingdom were prospectively screened. After coronary computed tomography angiography, patients with unobstructed coronary arteries, and who consented, underwent invasive endotyping. The diagnostic assessments included coronary angiography, fractional flow reserve (patient excluded if ≤0.80), and, for those without obstructive coronary artery disease, coronary flow reserve (abnormal <2.0), index of microvascular resistance (abnormal ≥25), and intracoronary infusion of acetylcholine (0.182, 1.82, and 18.2 μg/mL; 2 mL/min for 2 minutes) to assess for microvascular and coronary spasm. Participants were randomly assigned to disclosure of the results of the coronary function tests to the invasive cardiologist (intervention group) or nondisclosure (control group, blinded). In the control group, a diagnosis of vasomotor angina was based on medical history, noninvasive tests, and coronary angiography. The primary outcome was the between-group difference in the reclassification rate of the initial diagnosis on the basis of coronary computed tomography angiography versus the final diagnosis after invasive endotyping. The Seattle Angina Questionnaire summary score and Treatment Satisfaction Questionnaire for Medication were secondary outcomes.
Results: Of 322 eligible patients, 250 (77.6%) underwent invasive endotyping; 19 (7.6%) had obstructive coronary disease, 127 (55.0%) had microvascular angina, 27 (11.7%) had vasospastic angina, 17 (7.4%) had both, and 60 (26.0%) had no abnormality. A total of 231 patients (mean age, 55.7 years; 64.5% women) were randomly assigned and followed up (median duration, 19.9 [12.6-26.9] months). The clinician diagnosed vasomotor angina in 51 (44.3%) patients in the intervention group and in 55 (47.4%) patients in the control group. After randomization, patients in the intervention group were 4-fold (odds ratio, 4.05 [95% CI, 2.32-7.24]; P <0.001) more likely to be diagnosed with a coronary vasomotor disorder; the frequency of this diagnosis increased to 76.5%. The frequency of normal coronary function (ie, no vasomotor disorder) was not different between the groups before randomization (51.3% versus 50.9%) but was reduced in the intervention group after randomization (23.5% versus 50.9%, P <0.001). At 6 and 12 months, the Seattle Angina Questionnaire summary score in the intervention versus control groups was 59.2±24.2 (2.3±16.2 change from baseline) versus 60.4±23.9 (4.6±16.4 change) and 63.7±23.5 (4.7±14.7 change) versus 66.0±19.3 (7.9±17.1 change), respectively, and not different between groups (global P =0.36). Compared with the control group, global treatment satisfaction was higher in the intervention group at 12 months (69.9±22.8 versus 61.7±26.9, P =0.013).
Conclusions: For patients with angina and no obstructive coronary arteries, a diagnosis informed by invasive functional assessment had no effect on long-term angina burden, whereas treatment satisfaction improved.
Registration: URL: https://www.
Clinicaltrials: gov; Unique identifier: NCT03477890.

3. The 24-hour food frequency assessment screening tool (FAST24): Development and evaluation of a novel dietary screener to identify foods associated with weight change. [2023]

  • Masheb RM, Vernarelli JA, Snow JL, Marsh AG, Ciszewski S, Dudley B, White CA, Purcell SA, and Lutes L
  • Clinical nutrition ESPEN [Clin Nutr ESPEN] 2023 Oct; Vol. 57, pp. 735-738. Date of Electronic Publication: 2023 Aug 24.
Subjects
United States, Female, Humans, Adolescent, Young Adult, Adult, Male, Databases, Factual, Diet, and Food
Abstract
Background & Aims: Brief screening questionnaires can identify 'at risk' behaviors in clinical settings. However, there is currently no screener for dietary intake specifically developed using foods associated with body weight change and increased risk for multiple chronic conditions and diseases.
Methods: We developed a novel brief dietary screener, the 24-Hour Food Frequency Assessment Screening Tool Questionnaire (FAST24), to identify intake of foods associated with weight change. University students completed the FAST24 and the Automated Self-Administered 24-Hour Dietary Assessment Tool (ASA24) at two time points to assess acceptability and determine preliminary criterion validity against food categories from the United States Department of Agriculture (USDA) Food Patterns Equivalents Database (FPED).
Results: 202 individuals (age 20.4 ± 3.6 years; 65.7% females) completed the FAST24 in an average time of 2 min compared to 24 min for the ASA24. Over half of the food items from the FAST24 were matched to, and correlated with, standard USDA food pattern components (r's ranging from .15 to .58, p's < .05). Food items from the dietary data from the FAST24 were also highly correlated with the more intensive ASA24 application (r's ranging from .23 to .82, p's < .01), and were less time-consuming and burdensome to complete (p's < .0001).
Conclusions: Findings support the continued refinement of the FAST24 as a rapid, valid primary care assessment tool for measuring USDA dietary intake patterns. Use of a short, simple screener such as the FAST24 has the potential for integration into large healthcare delivery settings to help establish a baseline for promoting relative behavior changes critical for long-term health and well-being.
Competing Interests: Declaration of competing interest The authors declare no conflicts of interest.
(Published by Elsevier Ltd.)

4. Prevalence of parental supply of alcohol to minors: a systematic review. [2023]

  • van der Kruk S, Harrison NJ, Bartram A, Newton S, Miller C, Room R, Olver I, and Bowden J
  • Health promotion international [Health Promot Int] 2023 Oct 01; Vol. 38 (5).
Abstract
Parental supply of alcohol to minors (i.e. those under the legal drinking age) is often perceived by parents as protective against harms from drinking, despite evidence linking it with adverse alcohol-related outcomes. This systematic review describes the prevalence of parental supply of alcohol, as reported in the international literature. The review was registered with PROSPERO (CRD42020218754). We searched seven online databases (Medline, Embase, PsycINFO, CINAHL, Scopus, Web of Science and Public Health Database) and grey literature from January 2011 to December 2022 and assessed the risk of bias with the JBI Critical Appraisal Checklist. Among 58 articles included in narrative synthesis from 29 unique datasets, there was substantial variation in the definition and measurement of parental supply of alcohol. Overall prevalence rates ranged from 7.0 to 60.0% for minor-report samples, and from 24.0 to 8.0% for parent-report samples. Data indicate that parental supply prevalence is generally proportionately higher for older minors or later-stage students, for girls, and has increased over time among minors who report drinking. Literature on the prevalence of parental supply of alcohol is robust in quantity but inconsistent in quality and reported prevalence. Greater consistency in defining and measuring parental supply is needed to better inform health promotion initiatives aimed at increasing parents' awareness.
(© The Author(s) 2023. Published by Oxford University Press.)

5. Novel Liver Injury Phenotypes and Outcomes in Pulmonary Arterial Hypertension. [2023]

  • Scott JV, Moutchia J, McClelland RL, Al-Naamani N, Weinberg E, Palevsky HI, Minhas J, Appleby DK, Smith A, Pugliese SC, Ventetuolo CE, and Kawut SM
  • MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 30. Date of Electronic Publication: 2023 Sep 30.
Abstract
Background: Pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) are disorders of the pulmonary vasculature that cause right ventricular dysfunction. Systemic consequences of right ventricular dysfunction include damage to other solid organs, such as the liver. However, the profiles and consequences of hepatic injury due to PAH and CTEPH have not been well-studied.
Methods: We aimed to identify underlying patterns of liver injury in a cohort of PAH and CTEPH patients enrolled in 15 randomized clinical trials conducted between 1998 and 2012. We used unsupervised machine learning to identify liver injury clusters in 13 trials and validated the findings in two additional trials. We then determined whether these liver injury clusters were associated with clinical outcomes or treatment effect heterogeneity.
Results: Our training dataset included 4,219 patients and our validation dataset included 1,756 patients with complete liver laboratory panels (serum total bilirubin, alkaline phosphatase, aspartate aminotransferase, alanine aminotransferase, and albumin). Using k-means clustering paired with factor analysis, we identified four unique liver phenotypes (no liver injury, hepatocellular injury, cholestatic injury, and combined injury patterns). Patients in the cholestatic injury liver cluster had the shortest time to clinical worsening and highest chance of worsening World Health Organization functional class. Randomization to the experimental arm was associated with a transition to healthier liver clusters compared to randomization to the control arm. The cholestatic injury group experienced the greatest placebo-corrected treatment benefit in terms of six-minute walk distance.
Conclusions: Liver injury patterns were associated with adverse outcomes in patients with PAH and CTEPH. Randomization to active treatment of pulmonary hypertension in these clinical trials had beneficial effects on liver health compared to placebo. The independent role of liver disease (often subclinical) in determining outcomes warrants prospective studies of the clinical utility of liver phenotyping for PAH prognosis and contribution to clinical disease.

6. Innovative Technologies in CNS Trials: Promises and Pitfalls for Recruitment, Retention, and Representativeness. [2023]

  • Lutz J, Pratap A, Lenze EJ, Bestha D, Lipschitz JM, Karantzoulis S, Vaidyanathan U, Robin J, Horan W, Brannan S, Mittoux A, Davis MC, Lakhan SE, and Keefe R
  • Innovations in clinical neuroscience [Innov Clin Neurosci] 2023 Sep 01; Vol. 20 (7-9), pp. 40-46. Date of Electronic Publication: 2023 Sep 01 (Print Publication: 2023).
Abstract
Objective: Recruitment of a sufficiently large and representative patient sample and its retention during central nervous system (CNS) trials presents major challenges for study sponsors. Technological advances are reshaping clinical trial operations to meet these challenges, and the COVID-19 pandemic further accelerated this development.
Method of Research: The International Society for CNS Clinical Trials and Methodology (ISCTM; www.isctm.org) Innovative Technologies for CNS Trials Working Group surveyed the state of technological innovations for improved recruitment and retention and assessed their promises and pitfalls.
Results: Online advertisement and electronic patient registries can enhance recruitment, but challenges with sample representativeness, conversion rates from eligible prescreening to enrolled patients, data privacy and security, and patient identification remain hurdles for optimal use of these technologies. Electronic medical records (EMR) mining with artificial intelligence (AI)/machine learning (ML) methods is promising but awaits translation into trials. During the study treatment phase, technological innovations increasingly support participant retention, including adherence with the investigational treatment. Digital tools for adherence and retention support take many forms, including patient-centric communication channels between researchers and participants, real-time study reminders, and digital behavioral interventions to increase study compliance. However, such tools add technical complexities to trials, and their impact on the generalizability of results are largely unknown.
Conclusion: Overall, the group found a scarcity of systematic data directly assessing the impact of technological innovations on study recruitment and retention in CNS trials, even for strategies with already high adoption, such as online recruitment. Given the added complexity and costs associated with most technological innovations, such data is needed to fully harness technologies for CNS trials and drive further adoption.
Competing Interests: DISCLOSURES: Dr. Lutz may have equity interests with Click Therapeutics, Inc. Dr. Lenze has previously consulted for Merck, Prodeo, Boehringer Ingelheim, Pritikin ICR, and IngenioRx; he has previously received funding from PCORI, the COVID-19 Early Treatment Fund, Mercatus/FastGrants, and Janssen; and he has a patent pending for sigma1 receptor agonists for COVID-19 treatment. Dr. Vaidyanathan was an employee of Boehringer Ingelheim at the time of writing. Dr. Robin is an employee of Winterlight Labs, Inc. and has equity interests with Winterlight Labs, Inc. Dr. Horan was an employee of WCG VeraSci at the time of writing, and is now an employee of Karuna Therapeutics. Dr. Brannan is an employee at Karuna Therapeutics. Dr. Lakhan is employed by Click Therapeutics, Inc. and has equity interests. Dr. Keefe serves as a paid consultant to WCG, Karuna, Merck, Sunovion, Biogen, and Boehringer Ingelheim. All other authors have no conflicts of interest relevant to the contents of this article.
(Copyright © 2023. Matrix Medical Communications. All rights reserved.)

7. CMR-derived left ventricular intraventricular pressure gradients identify different patterns associated with prognosis in dilated cardiomyopathy. [2023]

  • Vos JL, Raafs AG, Henkens MTHM, Pedrizzetti G, van Deursen CJ, Rodwell L, Heymans SRB, and Nijveldt R
  • European heart journal. Cardiovascular Imaging [Eur Heart J Cardiovasc Imaging] 2023 Aug 23; Vol. 24 (9), pp. 1231-1240.
Subjects
Humans, Contrast Media, Ventricular Pressure, Magnetic Resonance Imaging, Cine, Gadolinium, Ventricular Function, Left, Stroke Volume, Magnetic Resonance Spectroscopy, Prognosis, Predictive Value of Tests, and Cardiomyopathy, Dilated
Abstract
Aims: Left ventricular (LV) blood flow is determined by intraventricular pressure gradients (IVPG). Changes in blood flow initiate remodelling and precede functional decline. Novel cardiac magnetic resonance (CMR) post-processing LV-IVPG analysis might provide a sensitive marker of LV function in dilated cardiomyopathy (DCM). Therefore, the aim of our study was to evaluate LV-IVPG patterns and their prognostic value in DCM.
Methods and Results: LV-IVPGs between apex and base were measured on standard CMR cine images in DCM patients (n = 447) from the Maastricht Cardiomyopathy registry. Major adverse cardiovascular events, including heart failure hospitalisations, life-threatening arrhythmias, and sudden/cardiac death, occurred in 66 DCM patients (15%). A temporary LV-IVPG reversal during systolic-diastolic transition, leading to a prolonged transition period or slower filling, was present in 168 patients (38%). In 14%, this led to a reversal of blood flow, which predicted outcome corrected for univariable predictors [hazard ratio (HR) = 2.57, 95% confidence interval (1.01-6.51), P = 0.047]. In patients without pressure reversal (n = 279), impaired overall LV-IVPG [HR = 0.91 (0.83-0.99), P = 0.033], systolic ejection force [HR = 0.91 (0.86-0.96), P < 0.001], and E-wave decelerative force [HR = 0.83 (0.73-0.94), P = 0.003] predicted outcome, independent of known predictors (age, sex, New York Heart Association class ≥ 3, LV ejection fraction, late gadolinium enhancement, LV-longitudinal strain, left atrium (LA) volume-index, and LA-conduit strain).
Conclusion: Pressure reversal during systolic-diastolic transition was observed in one-third of DCM patients, and reversal of blood flow direction predicted worse outcome. In the absence of pressure reversal, lower systolic ejection force, E-wave decelerative force (end of passive LV filling), and overall LV-IVPG are powerful predictors of outcome, independent of clinical and imaging parameters.
Competing Interests: Conflict of interest: None declared.
(© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)

8. Brain Imaging Abnormalities in Mixed Alzheimer's and Subcortical Vascular Dementia. [2023]

  • Lee H, Wiggermann V, Rauscher A, Kames C, Beg MF, Popuri K, Tam R, Lam K, Jacova C, Shahinfard E, Sossi V, Pettersen JA, and Hsiung GR
  • The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2023 Jul; Vol. 50 (4), pp. 515-528. Date of Electronic Publication: 2022 May 26.
Subjects
Humans, Diffusion Tensor Imaging, Cross-Sectional Studies, Brain diagnostic imaging, Brain pathology, Magnetic Resonance Imaging methods, Dementia, Vascular diagnostic imaging, Alzheimer Disease diagnostic imaging, Alzheimer Disease pathology, and Mixed Dementias
Abstract
Background: A large proportion of Alzheimer's disease (AD) patients have coexisting subcortical vascular dementia (SVaD), a condition referred to as mixed dementia (MixD). Brain imaging features of MixD presumably include those of cerebrovascular disease and AD pathology, but are difficult to characterize due to their heterogeneity.
Objective: To perform an exploratory analysis of conventional and non-conventional structural magnetic resonance imaging (MRI) abnormalities in MixD and to compare them to those observed in AD and SVaD.
Methods: We conducted a cross-sectional, region-of-interest-based analysis of 1) hyperintense white-matter signal abnormalities (WMSA) on T2-FLAIR and hypointense WMSA on T1-weighted MRI; 2) diffusion tensor imaging; 3) quantitative susceptibility mapping; and 4) effective transverse relaxation rate (R2*) in N = 17 participants (AD:5, SVaD:5, MixD:7). General linear model was used to explore group differences in these brain imaging measures.
Results: Model findings suggested imaging characteristics specific to our MixD group, including 1) higher burden of WMSAs on T1-weighted MRI (versus both AD and SVaD); 2) frontal lobar preponderance of WMSAs on both T2-FLAIR and T1-weighted MRI; 3) higher fractional anisotropy values within normal-appear white-matter tissues (versus SVaD, but not AD); and 4) lower R2* values within the T2-FLAIR WMSA areas (versus both AD and SVaD).
Conclusion: These findings suggest a preliminary picture of the location and type of brain imaging characteristics associated with MixD. Future imaging studies may employ region-specific hypotheses to distinguish MixD more rigorously from AD or SVaD.

9. Left Atrial Strain Is an Independent Predictor of New-Onset Atrial Fibrillation in Dilated Cardiomyopathy. [2023]

  • Raafs AG, Vos JL, Henkens MTHM, Verdonschot JAJ, Sikking M, Stroeks S, Gerretsen S, Hazebroek MR, Knackstedt C, Nijveldt R, and Heymans SRB
  • JACC. Cardiovascular imaging [JACC Cardiovasc Imaging] 2023 Jul; Vol. 16 (7), pp. 991-992. Date of Electronic Publication: 2023 Mar 08.
Subjects
Humans, Predictive Value of Tests, Heart Atria diagnostic imaging, Echocardiography, Atrial Fibrillation diagnostic imaging, Atrial Fibrillation etiology, and Cardiomyopathy, Dilated diagnostic imaging

10. Author Correction: The power of genetic diversity in genome-wide association studies of lipids. [2023]

  • Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Yousri NA, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, Böger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Koistinen HA, Chandak GR, Yajnik CS, Mercader JM, Tusié-Luna T, Aguilar-Salinas CA, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Lu F, Qu J, Hishigaki H, Lin X, März W, Parra EJ, Cruz M, Gudnason V, Tardif JC, Lettre G, 't Hart LM, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Psaty BM, Brandslund I, Pramstaller PP, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Cucca F, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Justice AE, Baras A, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Thorsteinsdottir U, Stefansson K, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Rotimi CN, Hazelhurst S, Ramsay M, Trembath RC, van Heel DA, Tamiya G, Yamamoto M, Kim BJ, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S, Boehnke M, Natarajan P, Peloso GM, Brown CD, Morris AP, Assimes TL, Deloukas P, Sun YV, and Willer CJ
  • Nature [Nature] 2023 Jun; Vol. 618 (7965), pp. E19-E20.

11. Left Atrial Function in Patients with Titin Cardiomyopathy. [2023]

  • Henkens MTHM, Raafs AG, Vanloon T, Vos JL, Vandenwijngaard A, Brunner HG, Krapels IPC, Knackstedt C, Gerretsen S, Hazebroek MR, Vernooy K, Nijveldt R, Lumens J, and Verdonschot JAJ
  • Journal of cardiac failure [J Card Fail] 2023 May 23. Date of Electronic Publication: 2023 May 23.
Abstract
Background: Truncating variants in titin (TTNtv) are the most prevalent genetic etiology of dilated cardiomyopathy (DCM). Although TTNtv has been associated with atrial fibrillation, it remains unknown whether and how left atrial (LA) function differs between patients with DCM with and without TTNtv. We aimed to determine and compare LA function in patients with DCM with and without TTNtv and to evaluate whether and how left ventricular (LV) function affects the LA using computational modeling.
Methods and Results: Patients with DCM from the Maastricht DCM registry that underwent genetic testing and cardiovascular magnetic resonance (CMR) were included in the current study. Subsequent computational modeling (CircAdapt model) was performed to identify potential LV and LA myocardial hemodynamic substrates. In total, 377 patients with DCM (n = 42 with TTNtv, n = 335 without a genetic variant) were included (median age 55 years, interquartile range [IQR] 46-62 years, 62% men). Patients with TTNtv had a larger LA volume and decreased LA strain compared with patients without a genetic variant (LA volume index 60 mLm -2 [IQR 49-83] vs 51 mLm -2 [IQR 42-64]; LA reservoir strain 24% [IQR 10-29] vs 28% [IQR 20-34]; LA booster strain 9% [IQR 4-14] vs 14% [IQR 10-17], respectively; all P < .01). Computational modeling suggests that while the observed LV dysfunction partially explains the observed LA dysfunction in the patients with TTNtv, both intrinsic LV and LA dysfunction are present in patients with and without a TTNtv.
Conclusions: Patients with DCM with TTNtv have more severe LA dysfunction compared with patients without a genetic variant. Insights from computational modeling suggest that both intrinsic LV and LA dysfunction are present in patients with DCM with and without TTNtv.
Competing Interests: Declaration of Competing Interest The authors have no conflict of interest.
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

12. Does believing something to be fiction allow a form of moral licencing or a 'fictive pass' in understanding others' actions? [2023]

  • Thompson J, Teasdale B, van Emde Boas E, Budelmann F, Duncan S, Maguire L, and Dunbar R
  • Frontiers in psychology [Front Psychol] 2023 May 15; Vol. 14, pp. 1159866. Date of Electronic Publication: 2023 May 15 (Print Publication: 2023).
Abstract
Introduction: The human capacity to engage with fictional worlds raises important psychological questions about the mechanisms that make this possible. Of particular interest is whether people respond differently to fictional stories compared to factual ones in terms of how immersed they become and how they view the characters involved and their actions. It has been suggested that fiction provides us with a 'fictive pass' that allows us to evaluate in a more balanced, detached way the morality of a character's behaviour.
Methods: We use a randomised controlled experimental design to test this.
Results and Discussion: We show that, although knowing whether a substantial film clip is fact or fiction does not affect how engaged with ('transported' by) a troubling story an observer becomes, it does grant them a 'fictive pass' to empathise with a moral transgressor. However, a fictive pass does not override the capacity to judge the causes of a character's moral transgression (at least as indexed by a causal attribution task).
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2023 Thompson, Teasdale, van Emde Boas, Budelmann, Duncan, Maguire and Dunbar.)

13. Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design. [2023]

  • Gross R, Thaweethai T, Rosenzweig EB, Chan J, Chibnik LB, Cicek MS, Elliott AJ, Flaherman VJ, Foulkes AS, Witvliet MG, Gallagher R, Gennaro ML, Jernigan TL, Karlson EW, Katz SD, Kinser PA, Kleinman LC, Lamendola-Essel MF, Milner JD, Mohandas S, Mudumbi PC, Newburger JW, Rhee KE, Salisbury AL, Snowden JN, Stein CR, Stockwell MS, Tantisira KG, Thomason ME, Truong DT, Warburton D, Wood JC, Ahmed S, Akerlundh A, Alshawabkeh AN, Anderson BR, Aschner JL, Atz AM, Aupperle RL, Baker FC, Balaraman V, Banerjee D, Barch DM, Baskin-Sommers A, Bhuiyan S, Bind MC, Bogie AL, Buchbinder NC, Bueler E, Bükülmez H, Casey BJ, Chang L, Clark DB, Clifton RG, Clouser KN, Cottrell L, Cowan K, D'Sa V, Dapretto M, Dasgupta S, Dehority W, Dummer KB, Elias MD, Esquenazi-Karonika S, Evans DN, Faustino EVS, Fiks AG, Forsha D, Foxe JJ, Friedman NP, Fry G, Gaur S, Gee DG, Gray KM, Harahsheh AS, Heath AC, Heitzeg MM, Hester CM, Hill S, Hobart-Porter L, Hong TKF, Horowitz CR, Hsia DS, Huentelman M, Hummel KD, Iacono WG, Irby K, Jacobus J, Jacoby VL, Jone PN, Kaelber DC, Kasmarcak TJ, Kluko MJ, Kosut JS, Laird AR, Landeo-Gutierrez J, Lang SM, Larson CL, Lim PPC, Lisdahl KM, McCrindle BW, McCulloh RJ, Mendelsohn AL, Metz TD, Morgan LM, Müller-Oehring EM, Nahin ER, Neale MC, Ness-Cochinwala M, Nolan SM, Oliveira CR, Oster ME, Payne RM, Raissy H, Randall IG, Rao S, Reeder HT, Rosas JM, Russell MW, Sabati AA, Sanil Y, Sato AI, Schechter MS, Selvarangan R, Shakti D, Sharma K, Squeglia LM, Stevenson MD, Szmuszkovicz J, Talavera-Barber MM, Teufel RJ 2nd, Thacker D, Udosen MM, Warner MR, Watson SE, Werzberger A, Weyer JC, Wood MJ, Yin HS, Zempsky WT, Zimmerman E, and Dreyer BP
  • MedRxiv : the preprint server for health sciences [medRxiv] 2023 May 12. Date of Electronic Publication: 2023 May 12.
Abstract
Importance: The prevalence, pathophysiology, and long-term outcomes of COVID-19 (post-acute sequelae of SARS-CoV-2 [PASC] or "Long COVID") in children and young adults remain unknown. Studies must address the urgent need to define PASC, its mechanisms, and potential treatment targets in children and young adults.
Observations: We describe the protocol for the Pediatric Observational Cohort Study of the NIH's RE searching COV ID to E nhance R ecovery (RECOVER) Initiative. RECOVER-Pediatrics is an observational meta-cohort study of caregiver-child pairs (birth through 17 years) and young adults (18 through 25 years), recruited from more than 100 sites across the US. This report focuses on two of five cohorts that comprise RECOVER-Pediatrics: 1) a de novo RECOVER prospective cohort of children and young adults with and without previous or current infection; and 2) an extant cohort derived from the Adolescent Brain Cognitive Development (ABCD) study ( n =10,000). The de novo cohort incorporates three tiers of data collection: 1) remote baseline assessments (Tier 1, n=6000); 2) longitudinal follow-up for up to 4 years (Tier 2, n=6000); and 3) a subset of participants, primarily the most severely affected by PASC, who will undergo deep phenotyping to explore PASC pathophysiology (Tier 3, n=600). Youth enrolled in the ABCD study participate in Tier 1. The pediatric protocol was developed as a collaborative partnership of investigators, patients, researchers, clinicians, community partners, and federal partners, intentionally promoting inclusivity and diversity. The protocol is adaptive to facilitate responses to emerging science.
Conclusions and Relevance: RECOVER-Pediatrics seeks to characterize the clinical course, underlying mechanisms, and long-term effects of PASC from birth through 25 years old. RECOVER-Pediatrics is designed to elucidate the epidemiology, four-year clinical course, and sociodemographic correlates of pediatric PASC. The data and biosamples will allow examination of mechanistic hypotheses and biomarkers, thus providing insights into potential therapeutic interventions.
Clinical Trialsgov Identifier: Clinical Trial Registration: http://www.clinicaltrials.gov . Unique identifier: NCT05172011.

14. Patient-reported outcome measures and patient engagement in heart failure clinical trials: multi-stakeholder perspectives. [2023]

  • Zannad F, Alikhaani J, Alikhaani S, Butler J, Gordon J, Jensen K, Khatib R, Mantovani L, Martinez R, Moore WF, Murakami M, Roessig L, Stockbridge N, Van Spall HGC, Yancy C, and Spertus JA
  • European journal of heart failure [Eur J Heart Fail] 2023 Apr; Vol. 25 (4), pp. 478-487. Date of Electronic Publication: 2023 Mar 22.
Subjects
Humans, Patient Participation, Patient Reported Outcome Measures, Caregivers, Quality of Life, and Heart Failure therapy
Abstract
There are many consequences of heart failure (HF), including symptoms, impaired health-related quality of life (HRQoL), and physical and social limitations (functional status). These have a substantial impact on patients' lives, yet are not routinely captured in clinical trials. Patient-reported outcomes (PROs) can quantify patients' experiences of their disease and its treatment. Steps can be taken to improve the use of PROs in HF trials, in regulatory and payer decisions, and in patient care. Importantly, PRO measures (PROMs) must be developed with involvement of patients, family members, and caregivers from diverse demographic groups and communities. PRO data collection should become more routine not only in clinical trials but also in clinical practice. This may be facilitated by the use of digital tools and interdisciplinary patient advocacy efforts. There is a need for standardization, not only of the PROM instruments, but also in procedures for analysis, interpretation and reporting PRO data. More work needs to be done to determine the degree of change that is important to patients and that is associated with increased risks of clinical events. This 'minimal clinically important difference' requires further research to determine thresholds for different PROMs, to assess consistency across trial populations, and to define standards for improvement that warrant regulatory and reimbursement approvals. PROs are a vital part of patient care and drug development, and more work should be done to ensure that these measures are both reflective of the patient experience and that they are more widely employed.
(© 2023 European Society of Cardiology.)

15. Implementation of a Web-Based Communication System for Primary Care Providers and Cancer Specialists. [2023]

  • Petrovic B, Bender JL, Liddy C, Afkham A, McGee SF, Morgan SC, Segal R, O'Brien MA, Julian JA, Sussman J, Urquhart R, Fitch M, Schneider ND, and Grunfeld E
  • Current oncology (Toronto, Ont.) [Curr Oncol] 2023 Mar 21; Vol. 30 (3), pp. 3537-3548. Date of Electronic Publication: 2023 Mar 21.
Subjects
Humans, Continuity of Patient Care, Surveys and Questionnaires, Communication, Internet, and Neoplasms therapy
Abstract
Healthcare providers have reported challenges with coordinating care for patients with cancer. Digital technology tools have brought new possibilities for improving care coordination. A web- and text-based asynchronous system (eOncoNote) was implemented in Ottawa, Canada for cancer specialists and primary care providers (PCPs). This study aimed to examine PCPs' experiences of implementing eOncoNote and how access to the system influenced communication between PCPs and cancer specialists. As part of a larger study, we collected and analyzed system usage data and administered an end-of-discussion survey to understand the perceived value of using eOncoNote. eOncoNote data were analyzed for 76 shared patients (33 patients receiving treatment and 43 patients in the survivorship phase). Thirty-nine percent of the PCPs responded to the cancer specialist's initial eOncoNote message and nearly all of those sent only one message. Forty-five percent of the PCPs completed the survey. Most PCPs reported no additional benefits of using eOncoNote and emphasized the need for electronic medical record (EMR) integration. Over half of the PCPs indicated that eOncoNote could be a helpful service if they had questions about a patient. Future research should examine opportunities for EMR integration and whether additional interventions could support communication between PCPs and cancer specialists.

16. Intravenously administered interleukin-7 to reverse lymphopenia in patients with septic shock: a double-blind, randomized, placebo-controlled trial. [2023]

  • Daix T, Mathonnet A, Brakenridge S, Dequin PF, Mira JP, Berbille F, Morre M, Jeannet R, Blood T, Unsinger J, Blood J, Walton A, Moldawer LL, Hotchkiss R, and François B
  • Annals of intensive care [Ann Intensive Care] 2023 Mar 12; Vol. 13 (1), pp. 17. Date of Electronic Publication: 2023 Mar 12.
Abstract
Background: Profound lymphopenia is an independent predictor of adverse clinical outcomes in sepsis. Interleukin-7 (IL-7) is essential for lymphocyte proliferation and survival. A previous phase II study showed that CYT107, a glycosylated recombinant human IL-7, administered intramuscularly reversed sepsis-induced lymphopenia and improved lymphocyte function. Thepresent study evaluated intravenous administration of CYT107. This prospective, double-blinded, placebo-controlled trial was designed to enroll 40 sepsis patients, randomized 3:1 to CYT107 (10 µg/kg) or placebo, for up to 90 days.
Results: Twenty-one patients were enrolled (fifteen CYT107 group, six placebo group) at eight French and two US sites. The study was halted early because three of fifteen patients receiving intravenous CYT107 developed fever and respiratory distress approximately 5-8 h after drug administration. Intravenous administration of CYT107 resulted in a two-threefold increase in absolute lymphocyte counts (including in both CD4 + and CD8 + T cells (all p < 0.05)) compared to placebo. This increase was similar to that seen with intramuscular administration of CYT107, was maintained throughout follow-up, reversed severe lymphopenia and was associated with increase in organ support free days (OSFD). However, intravenous CYT107 produced an approximately 100-fold increase in CYT107 blood concentration compared with intramuscular CYT107. No cytokine storm and no formation of antibodies to CYT107 were observed.
Conclusion: Intravenous CYT107 reversed sepsis-induced lymphopenia. However, compared to intramuscular CYT107 administration, it was associated with transient respiratory distress without long-term sequelae. Because of equivalent positive laboratory and clinical responses, more favorable pharmacokinetics, and better patient tolerability, intramuscular administration of CYT107 is preferable.
Trial Registration: Clinicaltrials.gov, NCT03821038. Registered 29 January 2019, https://clinicaltrials.gov/ct2/show/NCT03821038?term=NCT03821038&draw=2&rank=1 .
(© 2023. The Author(s).)

17. Percentage of Adults Aged 18-64 Years Who Used Telemedicine in the Past 12 Months, by Sex and Health Insurance Coverage -- National Health Interview Survey, United States 2021. [2023]

  • Lucas, Jacqueline, Villarroel, Maria, and Cohen, Robin
  • MMWR: Morbidity & Mortality Weekly Report. 3/3/2023, Vol. 72 Issue 9, p244-244. 1p. 1 Graph.
Subjects
TELEMEDICINE, MEDICAL personnel, and PUBLIC health
Abstract
The article analysis the statistics related to telemedicine visit with a health care professional.

18. Patterns of failure in pediatric medulloblastoma and implications for hippocampal sparing. [2023]

  • Baliga S, Adams JA, Bajaj BVM, Van Benthuysen L, Daartz J, Gallotto SL, Lewy JR, DeNunzio N, Weyman EA, Lawell MP, Palmer JD, Yeap BY, Ebb DH, Huang MS, Perry AF, MacDonald SM, Jones RM, Tarbell NJ, and Yock TI
  • Cancer [Cancer] 2023 Mar 01; Vol. 129 (5), pp. 764-770. Date of Electronic Publication: 2022 Dec 11.
Subjects
Humans, Child, Organ Sparing Treatments methods, Organs at Risk, Protons, Prospective Studies, Radiotherapy Planning, Computer-Assisted methods, Radiotherapy Dosage, Cranial Irradiation adverse effects, Cranial Irradiation methods, Neoplasm Recurrence, Local epidemiology, Hippocampus diagnostic imaging, Medulloblastoma radiotherapy, Brain Neoplasms radiotherapy, Brain Neoplasms secondary, Radiotherapy, Intensity-Modulated methods, and Cerebellar Neoplasms radiotherapy
Abstract
Background: Hippocampal avoidance (HA) has been shown to preserve cognitive function in adult patients with cancer treated with whole-brain radiation therapy for brain metastases. However, the feasibility of HA in pediatric patients with brain tumors has not been explored because of concerns of increased risk of relapse in the peri-hippocampal region. Our aim was to determine patterns of recurrence and incidence of peri-hippocampal relapse in pediatric patients with medulloblastoma (MB).
Methods and Materials: We identified pediatric patients with MB treated with protons between 2002 and 2016 and who had recurrent disease. To estimate the risk of peri-hippocampal recurrence, three hippocampal zones (HZs) were delineated corresponding to ≤5 mm (HZ-1), 6 to 10 mm (HZ-2), and >10 mm (HZ-3) distance of the recurrence from the contoured hippocampi. To determine the feasibility of HA, three standard-risk patients with MB were planned using either volumetric-modulated arc therapy (VMAT) or intensity-modulated proton therapy (IMPT) plans.
Results: Thirty-eight patients developed a recurrence at a median of 1.6 years. Of the 25 patients who had magnetic resonance imaging of the recurrence, no patients failed within the hippocampus and only two patients failed within HZ-1. The crude incidence of peri-hippocampal failure was 8%. Both HA-VMAT and HA-IMPT plans were associated with significantly reduced mean dose to the hippocampi (p < .05). HA-VMAT and HA-IMPT plans were associated with decreased percentage of the third and lateral ventricles receiving the prescription craniospinal dose of 23.4 Gy.
Conclusions: Peri-hippocampal failures are uncommon in pediatric patients with MB. Hippocampal avoidance should be evaluated in a prospective cohort of pediatric patients with MB.
Plain Language Summary: In this study, the patterns of disease recurrence in patients with a pediatric brain tumor known as medulloblastoma treated with proton radiotherapy were examined. The majority of failures occur outside of an important structure related to memory formation called the hippocampus. Hippocampal sparing radiation plans using proton radiotherapy were generated and showed that dose to the hippocampus was able to be significantly reduced. The study provides the rationale to explore hippocampal sparing in pediatric medulloblastoma in a prospective clinical trial.
(© 2022 The Authors. Cancer published by Wiley Periodicals LLC on behalf of American Cancer Society.)

19. Volume of subcortical brain regions in social anxiety disorder: mega-analytic results from 37 samples in the ENIGMA-Anxiety Working Group. [2023]

  • Groenewold NA, Bas-Hoogendam JM, Amod AR, Laansma MA, Van Velzen LS, Aghajani M, Hilbert K, Oh H, Salas R, Jackowski AP, Pan PM, Salum GA, Blair JR, Blair KS, Hirsch J, Pantazatos SP, Schneier FR, Talati A, Roelofs K, Volman I, Blanco-Hinojo L, Cardoner N, Pujol J, Beesdo-Baum K, Ching CRK, Thomopoulos SI, Jansen A, Kircher T, Krug A, Nenadić I, Stein F, Dannlowski U, Grotegerd D, Lemke H, Meinert S, Winter A, Erb M, Kreifelts B, Gong Q, Lui S, Zhu F, Mwangi B, Soares JC, Wu MJ, Bayram A, Canli M, Tükel R, Westenberg PM, Heeren A, Cremers HR, Hofmann D, Straube T, Doruyter AGG, Lochner C, Peterburs J, Van Tol MJ, Gur RE, Kaczkurkin AN, Larsen B, Satterthwaite TD, Filippi CA, Gold AL, Harrewijn A, Zugman A, Bülow R, Grabe HJ, Völzke H, Wittfeld K, Böhnlein J, Dohm K, Kugel H, Schrammen E, Zwanzger P, Leehr EJ, Sindermann L, Ball TM, Fonzo GA, Paulus MP, Simmons A, Stein MB, Klumpp H, Phan KL, Furmark T, Månsson KNT, Manzouri A, Avery SN, Blackford JU, Clauss JA, Feola B, Harper JC, Sylvester CM, Lueken U, Veltman DJ, Winkler AM, Jahanshad N, Pine DS, Thompson PM, Stein DJ, and Van der Wee NJA
  • Molecular psychiatry [Mol Psychiatry] 2023 Mar; Vol. 28 (3), pp. 1079-1089. Date of Electronic Publication: 2023 Jan 19.
Subjects
Adult, Adolescent, Humans, Magnetic Resonance Imaging methods, Brain, Anxiety, Neuroimaging methods, and Phobia, Social
Abstract
There is limited convergence in neuroimaging investigations into volumes of subcortical brain regions in social anxiety disorder (SAD). The inconsistent findings may arise from variations in methodological approaches across studies, including sample selection based on age and clinical characteristics. The ENIGMA-Anxiety Working Group initiated a global mega-analysis to determine whether differences in subcortical volumes can be detected in adults and adolescents with SAD relative to healthy controls. Volumetric data from 37 international samples with 1115 SAD patients and 2775 controls were obtained from ENIGMA-standardized protocols for image segmentation and quality assurance. Linear mixed-effects analyses were adjusted for comparisons across seven subcortical regions in each hemisphere using family-wise error (FWE)-correction. Mixed-effects d effect sizes were calculated. In the full sample, SAD patients showed smaller bilateral putamen volume than controls (left: d = -0.077, p FWE  = 0.037; right: d = -0.104, p FWE  = 0.001), and a significant interaction between SAD and age was found for the left putamen (r = -0.034, p FWE  = 0.045). Smaller bilateral putamen volumes (left: d = -0.141, p FWE  < 0.001; right: d = -0.158, p FWE  < 0.001) and larger bilateral pallidum volumes (left: d = 0.129, p FWE  = 0.006; right: d = 0.099, p FWE  = 0.046) were detected in adult SAD patients relative to controls, but no volumetric differences were apparent in adolescent SAD patients relative to controls. Comorbid anxiety disorders and age of SAD onset were additional determinants of SAD-related volumetric differences in subcortical regions. To conclude, subtle volumetric alterations in subcortical regions in SAD were detected. Heterogeneity in age and clinical characteristics may partly explain inconsistencies in previous findings. The association between alterations in subcortical volumes and SAD illness progression deserves further investigation, especially from adolescence into adulthood.
(© 2023. The Author(s), under exclusive licence to Springer Nature Limited.)

20. The Dutch Lung Cancer Audit-Radiotherapy (DLCA-R): Real-World Data on Stage III Non-Small Cell Lung Cancer Patients Treated With Curative Chemoradiation. [2023]

  • Dieleman E, van der Woude L, van Os R, van Bockel L, Coremans I, van Es C, De Jaeger K, Knol HP, Kolff W, Koppe F, Pomp J, Reymen B, Schinagl D, Spoelstra F, Tissing-Tan C, van der Voort van Zyp N, van der Wel A, Wijsman R, Dielwart M, Wiegman E, Damhuis R, and Belderbos J
  • Clinical lung cancer [Clin Lung Cancer] 2023 Mar; Vol. 24 (2), pp. 130-136. Date of Electronic Publication: 2022 Nov 25.
Subjects
Humans, Male, Aged, Infant, Neoplasm Staging, Chemoradiotherapy adverse effects, Carcinoma, Non-Small-Cell Lung drug therapy, Lung Neoplasms drug therapy, and Radiation Oncology
Abstract
Introduction: Chemoradiotherapy (CRT) is the standard of care in inoperable non-small-cell lung cancer (NSCLC) patients, favoring concurrent (cCRT) over sequential CRT (seqCRT), with adjuvant immunotherapy in responders. Elderly and frail NSCLC patients have generally been excluded from trials in the past. In elderly patients however, the higher treatment related morbidity of cCRT, may outweigh the possible lower tumor control of seqCRT. For elderly patients with locally advanced NSCLC real-world data is essential to be able to balance treatment toxicity and treatment outcome. The aim of this study is to analyze acute toxicity and 3-month mortality of curative chemoradiation (CRT) in patients with stage III NSCLC and to analyze whether cCRT for elderly stage III NSCLC patients is safe.
Methods: The Dutch Lung Cancer Audit-Radiotherapy (DLCA-R) is a national lung cancer audit that started in 2013 for patients treated with curative intent radiotherapy. All Dutch patients treated for stage III NSCLC between 2015 and 2018 with seqCRT or cCRT for (primary or recurrent) stage III lung cancer are included in this population-based study. Information was collected on patient, tumor- and treatment characteristics and the incidence and severity of acute non-hematological toxicity (CTCAE-4 version 4.03) and mortality within 3 months after the end of radiotherapy. To evaluate the association between prognostic factors and outcome (acute toxicity and mortality within 3 months), an univariable and multivariable analysis was performed. The definition of cCRT was:radiotherapy started within 30 days after the start of chemotherapy.
Results: Out of all 20 Dutch departments of radiation oncology, 19 centers participated in the registry. A total of 2942 NSCLC stage III patients were treated with CRT. Of these 67.2% (n = 1977) were treated with cCRT (median age 66 years) and 32.8% (n = 965) were treated with seqCRT (median age 69 years). Good performance status (WHO 0-1) was scored in 88.6% for patients treated with cCRT and in 71.0% in the patients treated with seqCRT. Acute nonhematological 3-month toxicity (CTCAE grade ≥3 or radiation pneumonitis grade ≥2) was scored in 21.9% of the patients treated with cCRT and in 17.7% of the patients treated with seqCRT. The univariable analysis for acute toxicity showed significantly increased toxicity for cCRT (P = .008), WHO ≥2 (P = .006), and TNM IIIC (P = .031). The multivariable analysis for acute toxicity was significant for cCRT (P = .015), WHO ≥2 (P = .001) and TNM IIIC (P = .016). The univariable analysis for 3-month mortality showed significance for seqCRT (P = .025), WHO ≥2 (P < .001), higher cumulative radiotherapy dose (P < .001), higher gross tumor volume total (P = .020) and male patients (p < .001). None of these variables reached significance in the multivariable analysis for 3-month mortality.
Conclusion: In this national lung cancer audit of inoperable NSCLC patients, 3-month toxicity was significantly higher in patients treated with cCRT (21.9% vs. 17.7% for seqCRT) higher TNM stage IIIC, and poor performance (WHO≥2) patients.The 3-months mortality was not significantly different for tested parameters. Age was not a risk factor for acute toxicity, nor 3 months mortality.
(Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)

21. Kinetics of the Antibody Response to Symptomatic SARS-CoV-2 Infection in Vaccinated and Unvaccinated Individuals in the Blinded Phase of the mRNA-1273 COVID-19 Vaccine Efficacy Trial. [2023]

  • Follmann, Dean, Janes, Holly E, Chu, Eric, Jayashankar, Lakshmi, Petropoulos, Christos J, Serebryannyy, Leonid, Carroll, Robin, Jean-Baptiste, Naz, Narpala, Sandeep, Lin, Bob C, McDermott, Adrian, Novak, Richard M, Graciaa, Daniel S, Rolsma, Stephanie, Magaret, Craig A, Doria-Rose, Nicole, Corey, Lawrence, Neuzil, Kathleen M, Pajon, Rolando, and Miller, Jacqueline M
  • Open Forum Infectious Diseases. Mar2023, Vol. 10 Issue 3, p1-8. 8p.
Abstract
Background Hybrid immunity is associated with more durable protection against coronavirus disease 2019 (COVID-19). We describe the antibody responses following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in vaccinated and unvaccinated individuals. Methods The 55 vaccine arm COVID-19 cases diagnosed during the blinded phase of the Coronavirus Efficacy trial were matched with 55 placebo arm COVID-19 cases. Pseudovirus neutralizing antibody (nAb) activity to the ancestral strain and binding antibody (bAb) responses to nucleocapsid and spike antigens (ancestral and variants of concern [VOCs]) were assessed on disease day 1 (DD1) and 28 days later (DD29). Results The primary analysis set was 46 vaccine cases and 49 placebo cases with COVID-19 at least 57 days post–first dose. For vaccine group cases, there was a 1.88-fold rise in ancestral antispike bAbs 1 month post–disease onset, although 47% had no increase. The vaccine-to-placebo geometric mean ratios for DD29 antispike and antinucleocapsid bAbs were 6.9 and 0.04, respectively. DD29 mean bAb levels were higher for vaccine vs placebo cases for all VOCs. DD1 nasal viral load positively correlated with bAb levels in the vaccine group. Conclusions Following COVID-19, vaccinated participants had higher levels and greater breadth of antispike bAbs and higher nAb titers than unvaccinated participants. These were largely attributable to the primary immunization series. [ABSTRACT FROM AUTHOR]

22. Evaluation of left cardiac chamber function with cardiac magnetic resonance and association with outcome in patients with systemic sclerosis. [2023]

  • Butcher SC, Vos JL, Fortuni F, Galloo X, Liem SIE, Bax JJ, Delgado V, Vonk MC, van Leuven SI, Snoeren M, El Messaoudi S, de Vries-Bouwstra JK, Nijveldt R, and Ajmone Marsan N
  • Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2023 Feb 06; Vol. 62 (SI), pp. SI20-SI31.
Subjects
Female, Humans, Male, Contrast Media, Gadolinium, Magnetic Resonance Imaging, Cine, Magnetic Resonance Spectroscopy, Predictive Value of Tests, Prognosis, Stroke Volume, Ventricular Function, Left, Middle Aged, Heart Failure, Scleroderma, Systemic complications, and Scleroderma, Systemic diagnostic imaging
Abstract
Objective: This study aimed to determine whether lower values of feature-tracking cardiovascular magnetic resonance (CMR)-derived left atrial reservoir strain (LARS) and impaired left ventricular (LV) global longitudinal strain (GLS) were associated with the presence of symptoms and long-term prognosis in patients with SSc.
Methods: A total of 100 patients {54 [interquartile range (IQR) 46-64] years, 42% male} with SSc who underwent CMR imaging at two tertiary referral centres were included. All patients underwent analysis of LARS and LV GLS using feature-tracking on CMR and were followed-up for the occurrence of all-cause mortality.
Results: The median LV GLS was -21.8% and the median LARS was 36%. On multivariable logistic regression, LARS [odds ratio (OR) 0.964 per %, 95% CI 0.929, 0.998, P = 0.049] was independently associated with New York Heart Association (NYHA) class II-IV heart failure symptoms. Over a median follow-up of 37 (21-62) months, a total of 24 (24%) patients died. Univariable Cox regression analysis demonstrated that LARS [hazard ratio (HR) 0.94 per 1%, 95% CI 0.91, 0.97, P < 0.0001) and LV GLS (HR 1.10 per %, 95% CI 1.03, 1.17, P = 0.005) were associated with all-cause mortality, while LV ejection fraction was not. Likelihood ratio tests demonstrated that LARS provided incremental value over prognostically important clinical and imaging parameters, including late gadolinium enhancement.
Conclusion: In patients with SSc, LARS was independently associated with the presence of NYHA class II-IV heart failure symptoms. Although both LARS and LV GLS were associated with all-cause mortality, only LARS provided incremental value over all evaluated variables known to be prognostically important in patients with SSc.
(© The Author(s) 2022. Published by Oxford University Press on behalf of the British Society for Rheumatology.)

23. A phase 1b study of venetoclax and azacitidine combination in patients with relapsed or refractory myelodysplastic syndromes. [2023]

  • Zeidan AM, Borate U, Pollyea DA, Brunner AM, Roncolato F, Garcia JS, Filshie R, Odenike O, Watson AM, Krishnadasan R, Bajel A, Naqvi K, Zha J, Cheng WH, Zhou Y, Hoffman D, Harb JG, Potluri J, and Garcia-Manero G
  • American journal of hematology [Am J Hematol] 2023 Feb; Vol. 98 (2), pp. 272-281. Date of Electronic Publication: 2022 Nov 10.
Subjects
Aged, Humans, Male, Azacitidine therapeutic use, Leukemia, Myeloid, Acute drug therapy, Neutropenia chemically induced, Sulfonamides, Treatment Outcome, Female, Antineoplastic Combined Chemotherapy Protocols adverse effects, and Myelodysplastic Syndromes drug therapy
Abstract
Patients with relapsed/refractory (R/R) higher-risk myelodysplastic syndromes (MDS) have a dismal median overall survival (OS) after failing hypomethylating agent (HMA) treatment. There is no standard of care for patients after HMA therapy failure; hence, there is a critical need for effective therapeutic strategies. Herein, we present the safety and efficacy of venetoclax + azacitidine in patients with R/R MDS. This phase 1b, open-label, multicenter study enrolled patients ≥18 years. Patients were treated with escalating doses of oral venetoclax: 100, 200, or 400 mg daily for 14 days every 28-day cycle. Azacitidine was administered on Days 1-7 every cycle at 75 mg/m 2 /day intravenously/subcutaneously. Responses were assessed per modified 2006 International Working Group (IWG) criteria. Forty-four patients (male 86%, median age 74 years) received venetoclax + azacitidine treatment. Median follow-up was 21.2 months. Hematological adverse events of Grade ≥ 3 included febrile neutropenia (34%), thrombocytopenia (32%), neutropenia (27%), and anemia (18%). Pneumonia (23%) was the most common Grade ≥ 3 infection. Marrow responses were seen including complete remission (CR, n = 3, 7%) and marrow CR (mCR, n = 14, 32%); 36% (16/44) achieved transfusion independence (TI) for RBCs and/or platelets, and 43% (6/14) with mCR achieved hematological improvement (HI). The median time to CR/mCR was 1.2 months, and the median duration of response for CR + mCR was 8.6 months. Median OS was 12.6 months. Venetoclax + azacitidine shows activity in patients with R/R MDS following prior HMA therapy failure and provides clinically meaningful benefits, including HI and TI, and encouraging OS.
(© 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.)

24. Transnational Trans Woman Inspires and Informs Evidence-Informed Interventions. [2023]

  • Cruzado-Quiñones J, Huibregtse RC, and Jordan AO
  • Journal of correctional health care : the official journal of the National Commission on Correctional Health Care [J Correct Health Care] 2023 Feb; Vol. 29 (1), pp. 19-26. Date of Electronic Publication: 2023 Jan 25.
Subjects
Female, Humans, New York City, Puerto Rico, Transgender Persons, Male, Hispanic or Latino, and Health Services for Transgender Persons
Abstract
Transitional Care Coordination is an evidence-informed model program developed by New York City Correctional Health Services as a Health Resources and Services Administration Special Projects of National Significance Correctional Health Linkage Intervention. Using implementation science under this and subsequent demonstration projects, interventions were adapted and enhanced to address the transitional needs of people of Puerto Rican ancestry and to expand the network of care across the islands of Puerto Rico. These interventions were informed, in part, by a transnational trans woman of color of Puerto Rican ancestry living with HIV. A socioecological model framework and case study are used to illustrate how evidence-informed interventions are developed and adapted to address the needs of those served.

25. PASC in Solid Organ Transplant Recipients With Self-reported SARS-CoV-2 Infection. [2023]

  • Alasfar S, Chiang TP, Snyder AJ, Ou MT, Boyarsky BJ, Abedon AT, Alejo JL, Cook S, Cochran W, Brigham E, Parker AM, Garonzik-Wang J, Massie AB, Brennan DC, Vannorsdall T, Segev DL, and Avery RK
  • Transplantation [Transplantation] 2023 Jan 01; Vol. 107 (1), pp. 181-191. Date of Electronic Publication: 2022 Sep 19.
Subjects
Humans, Self Report, SARS-CoV-2, Quality of Life, COVID-19 Testing, Transplant Recipients, Cough, Pain, COVID-19 epidemiology, and Organ Transplantation adverse effects
Abstract
Background: Postacute sequelae of SARS-CoV-2 infection (PASC) is an increasingly recognized phenomenon and manifested by long-lasting cognitive, mental, and physical symptoms beyond the acute infection period. We aimed to estimate the frequency of PASC symptoms in solid organ transplant (SOT) recipients and compared their frequency between those with SARS-CoV-2 infection requiring hospitalization and those who did not require hospitalization.
Methods: A survey consisting of 7 standardized questionnaires was administered to 111 SOT recipients with history of SARS-CoV-2 infection diagnosed >4 wk before survey administration.
Results: Median (interquartile range) time from SARS-CoV-2 diagnosis was 167 d (138-221). Hospitalization for SARS-CoV-2 infection was reported in 33 (30%) participants. Symptoms after the COVID episode were perceived as following: significant trauma (53%), cognitive decline (50%), fatigue (41%), depression (36%), breathing problems (35%), anxiety (23%), dysgeusia (22%), dysosmia (21%), and pain (19%). Hospitalized patients had poorer median scores in cognition (Quick Dementia Rating System survey score: 2.0 versus 0.5, P = 0.02), quality of life (Health-related Quality of Life survey: 2.0 versus 1.0, P = 0.015), physical health (Global physical health scale: 10.0 versus 11.0, P = 0.005), respiratory status (Breathlessness, Cough and Sputum Scale: 1.0 versus 0.0, P = 0.035), and pain (Pain score: 3 versus 0 out of 10, P = 0.003). Among patients with infection >6 mo prior, some symptoms were still present as following: abnormal breathing (42%), cough (40%), dysosmia (29%), and dysgeusia (34%).
Conclusions: SOT recipients reported a high frequency of PASC symptoms. Multidisciplinary approach is needed to care for these patients beyond the acute phase.
(Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

26. 6-month antibody kinetics and durability after four doses of a SARS-CoV-2 vaccine in solid organ transplant recipients. [2023]

  • Mitchell J, Chiang TP, Alejo JL, Kim JD, Chang A, Abedon AT, Avery RK, Tobian AAR, Levan ML, Warren DS, Garonzik-Wang JM, Segev DL, Massie AB, and Werbel WA
  • Clinical transplantation [Clin Transplant] 2023 Jan; Vol. 37 (1), pp. e14868. Date of Electronic Publication: 2022 Dec 07.
Subjects
Humans, COVID-19 Vaccines, Kinetics, SARS-CoV-2, Antibodies, Transplant Recipients, Antibodies, Viral, COVID-19 epidemiology, COVID-19 prevention control, and Organ Transplantation

27. MP-453090-9 FINDINGS FROM TWELVE YEARS OF FAMILY SCREENING AFTER SUDDEN CARDIAC DEATH [2023]

  • Brown, Stewart, Bailey, Janice, Wang, Robin, Kemp, Jacqueline, Strawbridge, Martyn, Sheppard, Mary, Dayer, Mark J., and Furniss, Guy O.
  • Heart rhythm. 20(S):S117-S118

28. Left Atrial Strain Is an Independent Predictor of New-Onset Atrial Fibrillation in Dilated Cardiomyopathy [2023]

  • Raafs, Anne G., Vos, Jacqueline L., Henkens, Michiel T.H.M., Verdonschot, Job A.J., Sikking, Maurits, Stroeks, Sophie, Gerretsen, Suzanne, Hazebroek, Mark R., Knackstedt, Christian, Nijveldt, Robin, and Heymans, Stephane R.B.
  • JACC.Cardiovascular imaging. 16(7):991-992

29. Vergence/accommodative therapy for symptomatic convergence insufficiency in children: Time course of improvements in convergence function [2023]

  • Jenewein, Erin C., Cotter, Susan, Roberts, Tawna, Kulp, Marjean, Mitchell, G. Lynn, Jones‐Jordan, Lisa A., Chen, Angela M., Hopkins, Kristine, Huang, Kristine, Amster, Deborah, Fecho, Gregory, Tyler, Julie, Meiyeppen, Shivakhaami, Scheiman, Mitchell, Cooper, Jeffrey, Schulman, Erica, Hamian, Kimberly, Iacono, Danielle, Larson, Steven, Leung, Valerie, Meeder, Sara, Ramos, Elaine, Ritter, Steven, Steiner, Audra, Stormann, Alexandria, Vricella, Marilyn, Zhu, Xiaoying, Tamkins, Susanna, Aguilera, Naomi, Brafman, Elliot, Capo, Hilda, Cavuoto, Kara, Crespo, Isaura, Dowling, Monica, Draskovic, Kristie, Farag, Miriam, Fischer, Vicky, Grace, Sara, Gutierrez, Ailen, Manchola‐Orozco, Carolina, Martinez, Maria, McKeown, Craig, Osigian, Carla, Pham, Tuyet‐Suong, Small, Leslie, Townsend, Natalie, Gallaway, Michael, Boas, Mark, Calvert, Christine, Franz, Tara, Gerrouge, Amanda, Hayden, Donna, Margolies, Zachary, Myung, Jenny, Pollack, Karen, Shoge, Ruth, Tang, Andrew, Tannen, Noah, Trieu, Lynn, Trujillo, Luis, Buckland, Michelle, Ellis, Allison, Fogt, Jennifer, McDaniel, Catherine, McGann, Taylor, Morrison, Ann, Mulvihill, Shane, Peiffer, Adam, Plaumann, Maureen, Pierce, Gil, Preston, Julie, Reuter, Kathleen, Stevens, Nancy, Teeny, Jake, Toole, Andrew, Widmer, Douglas, Zimmerman, Aaron, Barnhardt, Carmen, Borsting, Eric, Chu, Raymond, Parker, Susan, Retnasothie, Dashaini, Wu, Judith, Hertle, Richard, Clark, Penny, Culp, Kelly, Fraley, Kathy, Grant, Drusilla, Hanna, Nancy, Knox, Stephanie, Lawhon, William, Li, Lan, Mitcheff, Sarah, Ricker, Isabel, Solis, Casandra, Wall, Palak, Zaczyk, Samantha, Marsh‐Tootle, Wendy, Bowen, Michelle, Call, Terri, Domnanovich, Kristy, Frazier, Marcela, Guyette, Nicole, Hayes, Oakley, Houser, John, Lee, Sarah, Montejo, Jenifer, Oechslin, Tamara, Turner, Candace, Weise, Katherine, Coulter, Rachel, Bade, Annette, Bansal, Surbhi, Falco, Laura, Green, Katherine, Irizarry, Gabriela, Jhajj, Jasleen, Patterson, Nicole, Rodena, Jacqueline, Tea, Yin, Weiss, Dana, Zakaib, Lauren, Lorenzana, Ingryd, Meza, Yesena, Mann, Ryan, Quezada, Mariana, Rein, Scott, Rudaitis, Indre, Stepleton, Susan, Wajs, Beata, Redford, Maryann, Denton, Carolyn, Arnold, Eugene, Chase, Christopher, Wee, Sharyl, Dahl‐Leonard, Katlynn, Powers, Kenneth, Alaniz, Amber, Diener‐West, Marie, Good, William V., Grisham, David, Kratochvil, Christopher J., Revicki, Dennis, Wanzek, Jeanne, Abraham, Mustafa, Dangelo, Julianne, Hegedus, Jordan, Jones, Ian, Junglas, Alexander, Lee, Jihyun, Nettles, Jadin, Mitchell, Curtis, Osman, Mawada, Scott‐Tibbs, Gloria, Sinnott, Loraine, Teasley, Chloe, Vang, Victor, and Varghese, Robin
  • Ophthalmic and physiological optics. 43(1):105-115

30. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. [2022]

  • Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw E, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Vazquez-Moreno M, Feitosa MF, Wojczynski MK, Wang Z, Preuss MH, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Tsao NL, Verma A, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Frank M, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Bayyana S, Stringham HM, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Nardone GG, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Liang J, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Koistinen HA, Chandak GR, Mercader JM, Costanzo MC, Jang D, Burtt NP, Villalpando CG, Orozco L, Fornage M, Tai E, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Jin ZB, Qu J, Hishigaki H, Lin X, März W, Gudnason V, Tardif JC, Lettre G, Hart LM', Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Parra EJ, Cruz M, Psaty BM, Brandslund I, Pramstaller PP, Rotimi CN, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Chuang LM, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Li H, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, Willemsen AHM, Cupples L, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, Hazelhurst S, Ramsay M, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Baras A, Justice AE, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Tamiya G, Yamamoto M, van Heel DA, Trembath RC, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Kim BJ, Thorsteinsdottir U, Stefansson K, Zhang J, Chen Y, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson PWF, Frayling TM, Hirschhorn JN, Kathiresan S, Mohlke KL, Sun YV, Morris AP, Boehnke M, Brown CD, Natarajan P, Deloukas P, Willer CJ, Assimes TL, and Peloso GM
  • Genome biology [Genome Biol] 2022 Dec 27; Vol. 23 (1), pp. 268. Date of Electronic Publication: 2022 Dec 27.
Subjects
Humans, Sex Characteristics, Phenotype, Lipids genetics, Polymorphism, Single Nucleotide, Genetic Pleiotropy, Genome-Wide Association Study, and Genetic Predisposition to Disease
Abstract
Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.
Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.
Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
(© 2022. The Author(s).)

31. Cardiovascular magnetic resonance-derived left ventricular intraventricular pressure gradients among patients with precapillary pulmonary hypertension. [2022]

  • Vos JL, Leiner T, van Dijk APJ, Pedrizzetti G, Alenezi F, Rodwell L, van der Wegen CTPM, Post MC, Driessen MMP, and Nijveldt R
  • European heart journal. Cardiovascular Imaging [Eur Heart J Cardiovasc Imaging] 2022 Dec 19; Vol. 24 (1), pp. 78-87.
Subjects
Humans, Ventricular Pressure, Cross-Sectional Studies, Heart Ventricles, Ventricular Function, Left, Stroke Volume, Magnetic Resonance Spectroscopy, Hypertension, Pulmonary, and Ventricular Dysfunction, Left
Abstract
Aims: Precapillary pulmonary hypertension (pPH) affects left ventricular (LV) function by ventricular interdependence. Since LV ejection fraction (EF) is commonly preserved, LV dysfunction should be assessed with more sensitive techniques. Left atrial (LA) strain and estimation of LV intraventricular pressure gradients (IVPG) may be valuable in detecting subtle changes in LV mechanics; however, the value of these techniques in pPH is unknown. Therefore, the aim of our study is to evaluate LA strain and LV-IVPGs from cardiovascular magnetic resonance (CMR) cines in pPH patients.
Methods and Results: In this cross-sectional study, 31 pPH patients and 22 healthy volunteers underwent CMR imaging. Feature-tracking LA strain was measured on four- and two-chamber cines. LV-IVPGs (from apex-base) are computed from a formulation using the myocardial movement and velocity of the reconstructed 3D-LV (derived from long-axis cines using feature-tracking). Systolic function, both LV EF and systolic ejection IVPG, was preserved in pPH patients. Compared to healthy volunteers, diastolic function was impaired in pPH patients, depicted by (i) lower LA reservoir (36 ± 7% vs. 26 ± 9%, P < 0.001) and conduit strain (26 ± 6% vs. 15 ± 8%, P < 0.001) and (ii) impaired diastolic suction (-9.1 ± 3.0 vs. ‒6.4 ± 4.4, P = 0.02) and E-wave decelerative IVPG (8.9 ± 2.6 vs. 5.7 ± 3.1, P < 0.001). Additionally, 11 pPH patients (35%) showed reversal of IVPG at systolic-diastolic transition compared to none of the healthy volunteers (P = 0.002).
Conclusions: pPH impacts LV function by altering diastolic function, demonstrated by an impairment of LA phasic function and LV-IVPG analysis. These parameters could therefore potentially be used as early markers for LV functional decline in pPH patients.
Competing Interests: Conflict of interest: none declared.
(© Crown copyright 2022.)

32. Circulating adipose tissue proteins involved in atrial fibrillation: An explorative scoping review. [2022]

  • Meulendijks ER, Krul SPJ, Baalman SW, de Vries TAC, Wesselink R, Ernault AC, Kawasaki M, Al-Shama R, Neefs J, Limpens J, and de Groot JR
  • Trends in cardiovascular medicine [Trends Cardiovasc Med] 2022 Dec 17. Date of Electronic Publication: 2022 Dec 17.
Abstract
Obesity increases the risk of atrial fibrillation (AF), potentially through proteins secreted by adipose tissue (AT) that affect atrial electrical and structural remodeling. We aim to give a comprehensive overview of circulating AT proteins involved in inflammation and fibrosis, that are associated with prevalent AF (paroxysmal or persistent) and the risk on developing new-onset AF. These include adipokines, defined as proteins enriched in AT as adiponectin, but also proteins less specific to AT. We systematically performed an explorative search for studies reporting associations between proteins secreted from cells residing in the AT and AF, and additionally assessed the effect of obesity on these proteins by a secondary search. The AT proteins involved in inflammation were mostly increased in patients with prevalent and new-onset AF, and with obesity, while the AT enriched adipokines were mostly not associated with AF. This review provides insight into circulating adipose tissue proteins involved in AF substrate formation.
(Copyright © 2022. Published by Elsevier Inc.)

33. Genetic diversity fuels gene discovery for tobacco and alcohol use. [2022]

  • Saunders GRB, Wang X, Chen F, Jang SK, Liu M, Wang C, Gao S, Jiang Y, Khunsriraksakul C, Otto JM, Addison C, Akiyama M, Albert CM, Aliev F, Alonso A, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Barr RG, Bartz TM, Becker DM, Bielak LF, Benjamin EJ, Bis JC, Bjornsdottir G, Blangero J, Bleecker ER, Boardman JD, Boerwinkle E, Boomsma DI, Boorgula MP, Bowden DW, Brody JA, Cade BE, Chasman DI, Chavan S, Chen YI, Chen Z, Cheng I, Cho MH, Choquet H, Cole JW, Cornelis MC, Cucca F, Curran JE, de Andrade M, Dick DM, Docherty AR, Duggirala R, Eaton CB, Ehringer MA, Esko T, Faul JD, Fernandes Silva L, Fiorillo E, Fornage M, Freedman BI, Gabrielsen ME, Garrett ME, Gharib SA, Gieger C, Gillespie N, Glahn DC, Gordon SD, Gu CC, Gu D, Gudbjartsson DF, Guo X, Haessler J, Hall ME, Haller T, Harris KM, He J, Herd P, Hewitt JK, Hickie I, Hidalgo B, Hokanson JE, Hopfer C, Hottenga J, Hou L, Huang H, Hung YJ, Hunter DJ, Hveem K, Hwang SJ, Hwu CM, Iacono W, Irvin MR, Jee YH, Johnson EO, Joo YY, Jorgenson E, Justice AE, Kamatani Y, Kaplan RC, Kaprio J, Kardia SLR, Keller MC, Kelly TN, Kooperberg C, Korhonen T, Kraft P, Krauter K, Kuusisto J, Laakso M, Lasky-Su J, Lee WJ, Lee JJ, Levy D, Li L, Li K, Li Y, Lin K, Lind PA, Liu C, Lloyd-Jones DM, Lutz SM, Ma J, Mägi R, Manichaikul A, Martin NG, Mathur R, Matoba N, McArdle PF, McGue M, McQueen MB, Medland SE, Metspalu A, Meyers DA, Millwood IY, Mitchell BD, Mohlke KL, Moll M, Montasser ME, Morrison AC, Mulas A, Nielsen JB, North KE, Oelsner EC, Okada Y, Orrù V, Palmer ND, Palviainen T, Pandit A, Park SL, Peters U, Peters A, Peyser PA, Polderman TJC, Rafaels N, Redline S, Reed RM, Reiner AP, Rice JP, Rich SS, Richmond NE, Roan C, Rotter JI, Rueschman MN, Runarsdottir V, Saccone NL, Schwartz DA, Shadyab AH, Shi J, Shringarpure SS, Sicinski K, Skogholt AH, Smith JA, Smith NL, Sotoodehnia N, Stallings MC, Stefansson H, Stefansson K, Stitzel JA, Sun X, Syed M, Tal-Singer R, Taylor AE, Taylor KD, Telen MJ, Thai KK, Tiwari H, Turman C, Tyrfingsson T, Wall TL, Walters RG, Weir DR, Weiss ST, White WB, Whitfield JB, Wiggins KL, Willemsen G, Willer CJ, Winsvold BS, Xu H, Yanek LR, Yin J, Young KL, Young KA, Yu B, Zhao W, Zhou W, Zöllner S, Zuccolo L, Batini C, Bergen AW, Bierut LJ, David SP, Gagliano Taliun SA, Hancock DB, Jiang B, Munafò MR, Thorgeirsson TE, Liu DJ, and Vrieze S
  • Nature [Nature] 2022 Dec; Vol. 612 (7941), pp. 720-724. Date of Electronic Publication: 2022 Dec 07.
Subjects
Humans, Genome-Wide Association Study methods, Risk Factors, Transcriptome, Sample Size, Genetic Loci genetics, Europe ethnology, Genetic Predisposition to Disease genetics, Genetic Variation genetics, Multifactorial Inheritance genetics, Tobacco Use genetics, Alcohol Drinking genetics, and Internationality
Abstract
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury 1-4 . These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries 5 . Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in sample size and genetic diversity improved locus identification and fine-mapping resolution, and that a large majority of the 3,823 associated variants (from 2,143 loci) showed consistent effect sizes across ancestry dimensions. However, polygenic risk scores developed in one ancestry performed poorly in others, highlighting the continued need to increase sample sizes of diverse ancestries to realize any potential benefit of polygenic prediction.
(© 2022. The Author(s).)

34. Reply: Further Insights Into the Prognostic Value of Left Atrial Strain in Dilated Cardiomyopathy? [2022]

  • Raafs AG, Henkens MTHM, Vos JL, Nijveldt R, and Verdonschot JAJ
  • JACC. Cardiovascular imaging [JACC Cardiovasc Imaging] 2022 Dec; Vol. 15 (12), pp. 2156-2157.
Subjects
Humans, Prognosis, Predictive Value of Tests, Cardiomyopathy, Dilated diagnostic imaging, Atrial Fibrillation, and Atrial Appendage

35. Ruxolitinib and exemestane for estrogen receptor positive, aromatase inhibitor resistant advanced breast cancer. [2022]

  • Makhlin I, McAndrew NP, Wileyto EP, Clark AS, Holmes R, Bottalico LN, Mesaros C, Blair IA, Jeschke GR, Fox KR, Domchek SM, Matro JM, Bradbury AR, Feldman MD, Hexner EO, Bromberg JF, and DeMichele A
  • NPJ breast cancer [NPJ Breast Cancer] 2022 Nov 11; Vol. 8 (1), pp. 122. Date of Electronic Publication: 2022 Nov 11.
Abstract
Circulating IL-6, an activator of JAK/STAT signaling, is associated with poor prognosis and aromatase inhibitor (AI) resistance in hormone-receptor positive (HR+) breast cancer. Here we report the results of a phase 2 single-arm Simon 2-stage trial combining Ruxolitinib, an oral selective inhibitor of JAK1/2, with exemestane, a steroidal AI, in patients with HR+ metastatic breast cancer (MBC) after progression on non-steroidal AI (NSAI). Safety and efficacy were primary objectives, and analysis of inflammatory markers as predictors of response was a key secondary objective. Twenty-five subjects enrolled. The combination of ruxolitinib and exemestane was safe, though anemia requiring transfusion in 5/15 (33%) at the 25 mg dose in stage 1 led to a reduction to 15 mg twice daily in stage 2 (with no additional transfusions). Clinical benefit rate (CBR) in the overall study population was 24% (95% CI 9.4-45.1); 6/25 patients demonstrated stable disease for ≥6 months. Median progression-free survival was 2.8 months (95% CI 2.6-3.9). Exploratory biomarkers revealed high levels of systemic inflammation and 60% harbored a high-risk IL-6 genotype. Pharmacodynamics demonstrated modest on-target inhibition of phosphorylated-STAT3 by ruxolitinib at a tolerable dose. Thus, ruxolitinib combined with exemestane at a tolerable dose was safe but minimally active in AI-resistant tumors of patients with high levels of systemic inflammation. These findings highlight the need for more potent and specific therapies targeting inflammation in MBC.
(© 2022. The Author(s).)

36. Patient and Healthcare Provider Perspectives on the Implementation of a Web-Based Clinical Communication System for Cancer: A Qualitative Study. [2022]

  • Petrovic B, O'Brien MA, Liddy C, Afkham A, McGee SF, Morgan SC, Segal R, Bender JL, Sussman J, Urquhart R, Fitch M, Schneider ND, and Grunfeld E
  • Current oncology (Toronto, Ont.) [Curr Oncol] 2022 Nov 03; Vol. 29 (11), pp. 8401-8414. Date of Electronic Publication: 2022 Nov 03.
Subjects
Male, Humans, Qualitative Research, Communication, Internet, Health Personnel, and Neoplasms
Abstract
Previous research has identified communication and care coordination problems for patients with cancer. Healthcare providers (HCPs) have reported communication issues due to the incompatibility of electronic medical records (EMR) software and not being consistently copied on patient reports. We evaluated an asynchronous web-based communication system ("eOncoNote") for primary care providers and cancer specialists to improve cancer care coordination. The objectives were to examine patients' perceptions of the role of eOncoNote in their healthcare, and HCPs' experiences of implementing eOncoNote. Qualitative interviews were conducted with patients with breast and prostate cancer, primary care providers, and cancer specialists. Eighteen patients and fourteen HCPs participated. Six themes were identified from the patient interviews focusing on HCP and patient roles related to care coordination and patient awareness of communication among their HCPs. Four themes were identified from HCP interviews related to the context of care coordination and experience with eOncoNote. Both patients and HCPs described the important role patients and caregivers play in care coordination. The results show that patients were often unaware of the communication between their HCPs and assumed they were communicating. HCPs encountered challenges incorporating eOncoNote into their workflow.

37. An innovative interprofessional education simulation for athletic training and prelicensure nursing students: Development, implementation, and student perspectives. [2022]

  • Vaughn J, Cunningham R, Schroeder LH, Waddill C, Peterson MJ, Gambacorta MR, and Sims S
  • Nursing forum [Nurs Forum] 2022 Nov; Vol. 57 (6), pp. 1373-1380. Date of Electronic Publication: 2022 Oct 29.
Subjects
Humans, Interprofessional Relations, Interprofessional Education, Learning, Attitude of Health Personnel, Patient Care Team, Students, Nursing, and Sports
Abstract
Background: The purpose of this article is to describe the development, implementation, and evaluation of a Simulation Interprofessional Education (Sim-IPE) activity for healthcare students from different disciplines (athletic training [AT] and nursing). The objective for the Sim-IPE activity was to engage AT and prelicensure nursing students in a realistic healthcare scenario to enhance knowledge about one another's profession, develop interprofessional skills, collaborate with one another, and communicate effectively as a team as they performed care.
Methods: This mixed methods study employed a one-time posttest design for a convenience sample of AT and prelicensure nursing students following a simulation intervention. Students completed the Student Perceptions of Interprofessional Clinical Education-Revised (SPICE-R) survey and answered open-ended response questions.
Results: Thirteen students (N = 13) from Cohort 1 and 12 students (N = 12) from Cohort 2 completed the SPICE-R survey. Most students strongly agreed/agreed for each of the SPICE-R survey questions. Qualitative findings indicated the students positively perceived the Sim-IPE activity as it helped them discover the value of interprofessional patient care.
Discussion: The quantitative findings indicated that the students found the Sim-IPE an effective learning methodology to achieve the objectives while the qualitative findings gave further insight into the students' perceptions of interprofessional teamwork and the value of the prebrief session conducted before the simulation. The findings will inform future Sim-IPE activities involving additional groups of healthcare students.
(© 2022 The Authors. Nursing Forum published by Wiley Periodicals LLC.)

38. Antibody response to a third dose of SARS-CoV-2 vaccine in heart and lung transplant recipients. [2022]

  • Alejo JL, Ruck JM, Chiang TPY, Abedon AT, Kim JD, Avery RK, Tobian AAR, Warren DS, Levan ML, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Clinical transplantation [Clin Transplant] 2022 Nov; Vol. 36 (11), pp. e14818. Date of Electronic Publication: 2022 Sep 19.
Subjects
Humans, COVID-19 Vaccines, Antibody Formation, SARS-CoV-2, Transplant Recipients, Antibodies, Viral, COVID-19 epidemiology, COVID-19 prevention control, and Lung Transplantation

39. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. [2022]

  • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, and Walker LC
  • Communications biology [Commun Biol] 2022 Oct 06; Vol. 5 (1), pp. 1061. Date of Electronic Publication: 2022 Oct 06.
Subjects
BRCA1 Protein genetics, BRCA2 Protein genetics, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Heterozygote, Humans, RNA, Messenger, Breast Neoplasms genetics, and Breast Neoplasms pathology
Abstract
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.
(© 2022. The Author(s).)

40. Comprehensive Cardiovascular Magnetic Resonance-Derived Myocardial Strain Analysis Provides Independent Prognostic Value in Acute Myocarditis. [2022]

  • Vos JL, Raafs AG, van der Velde N, Germans T, Biesbroek PS, Roes K, Hirsch A, Heymans SRB, and Nijveldt R
  • Journal of the American Heart Association [J Am Heart Assoc] 2022 Oct 04; Vol. 11 (19), pp. e025106. Date of Electronic Publication: 2022 Sep 21.
Subjects
Arrhythmias, Cardiac, Contrast Media, Female, Gadolinium, Heart Atria, Humans, Magnetic Resonance Imaging, Cine methods, Magnetic Resonance Spectroscopy, Male, Predictive Value of Tests, Prognosis, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Heart Failure, and Myocarditis diagnostic imaging
Abstract
Background Late gadolinium enhancement and left ventricular (LV) ejection fraction on cardiovascular magnetic resonance (CMR) are prognostic markers, but their predictive value for incident heart failure or life-threatening arrhythmias in acute myocarditis patients is limited. CMR-derived feature tracking provides a more sensitive analysis of myocardial function and may improve risk stratification in myocarditis. In this study, the prognostic value of LV, right ventricular, and left atrial strain in acute myocarditis patients is evaluated. Methods and Results In this multicenter retrospective study, patients with CMR-proven acute myocarditis were included. The primary end point was occurrence of major adverse cardiovascular events: all-cause mortality, heart transplantation, heart failure hospitalizations, and life threatening arrhythmias. LV global longitudinal strain, global circumferential strain and global radial strain, right ventricular-global longitudinal strain and left atrial strain were measured. Unadjusted and adjusted cox proportional hazard regression analysis were performed. In total, 162 CMR-proven myocarditis patients were included (41 ± 17 years, 75% men). Mean LV ejection fraction was 51 ± 12%, and 144 (89%) patients had presence of late gadolinium enhancement. Major adverse cardiovascular events occurred in 29 (18%) patients during a follow-up of 5.5 (2.2-8.3) years. All LV strain parameters were independent predictors of outcome beyond clinical features, LV ejection fraction and late gadolinium enhancement (LV-global longitudinal strain: hazard ratio [HR] 1.07, P =0.02; LV-global circumferential strain: HR 1.15, P =0.02; LV-global radial strain: HR 0.98, P =0.03), but right ventricular or left atrial strain did not predict outcome. Conclusions CMR-derived LV strain analysis provides independent prognostic value on top of clinical parameters, LV ejection fraction and late gadolinium enhancement in acute myocarditis patients, while left atrial and right ventricular strain seem to be of less importance.

41. Predicting a Positive Antibody Response After 2 SARS-CoV-2 mRNA Vaccines in Transplant Recipients: A Machine Learning Approach With External Validation. [2022]

  • Alejo JL, Mitchell J, Chiang TP, Chang A, Abedon AT, Werbel WA, Boyarsky BJ, Zeiser LB, Avery RK, Tobian AAR, Levan ML, Warren DS, Massie AB, Moore LW, Guha A, Huang HJ, Knight RJ, Gaber AO, Ghobrial RM, Garonzik-Wang JM, Segev DL, and Bae S
  • Transplantation [Transplantation] 2022 Oct 01; Vol. 106 (10), pp. e452-e460. Date of Electronic Publication: 2022 Jul 21.
Subjects
Antibodies, Viral, Antibody Formation, BNT162 Vaccine, Humans, Immunosuppressive Agents adverse effects, Machine Learning, Mycophenolic Acid, SARS-CoV-2, Vaccines, Vaccines, Synthetic, mRNA Vaccines, COVID-19 prevention control, COVID-19 Vaccines adverse effects, and Transplant Recipients
Abstract
Background: Solid organ transplant recipients (SOTRs) are less likely to mount an antibody response to SARS-CoV-2 mRNA vaccines. Understanding risk factors for impaired vaccine response can guide strategies for antibody testing and additional vaccine dose recommendations.
Methods: Using a nationwide observational cohort of 1031 SOTRs, we created a machine learning model to explore, identify, rank, and quantify the association of 19 clinical factors with antibody responses to 2 doses of SARS-CoV-2 mRNA vaccines. External validation of the model was performed using a cohort of 512 SOTRs at Houston Methodist Hospital.
Results: Mycophenolate mofetil use, a shorter time since transplant, and older age were the strongest predictors of a negative antibody response, collectively contributing to 76% of the model's prediction performance. Other clinical factors, including transplanted organ, vaccine type (mRNA-1273 versus BNT162b2), sex, race, and other immunosuppressants, showed comparatively weaker associations with an antibody response. This model showed moderate prediction performance, with an area under the receiver operating characteristic curve of 0.79 in our cohort and 0.67 in the external validation cohort. An online calculator based on our prediction model is available at http://transplantmodels.com/covidvaccine/ .
Conclusions: Our machine learning model helps understand which transplant patients need closer follow-up and additional doses of vaccine to achieve protective immunity. The online calculator based on this model can be incorporated into transplant providers' practice to facilitate patient-centric, precision risk stratification and inform vaccination strategies among SOTRs.
Competing Interests: D.L.S. has the following financial disclosures: consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, Thermo Fisher Scientific, Regeneron, and AstraZeneca. R.K.A. has grant/research support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, and Takeda/Shire. M.L.L. is the Social Media Editor for Transplantation and is a consultant for Takeda/Shire and Patients Like Me. The other authors declare no conflicts of interest.
(Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

42. Letter to the editor: Six-month antibody kinetics and durability in liver transplant recipients after two doses of SARS-CoV-2 mRNA vaccination. [2022]

  • Chang A, Strauss AT, Alejo JL, Chiang TP, Hernandez NF, Zeiser LB, Boyarsky BJ, Avery RK, Tobian AAR, Levan ML, Warren DS, Garonzik-Wang JM, Massie AB, Werbel WA, and Segev DL
  • Hepatology communications [Hepatol Commun] 2022 Oct; Vol. 6 (10), pp. 2990-2992. Date of Electronic Publication: 2022 Jul 05.
Subjects
Antibodies, Humans, Kinetics, RNA, Messenger, SARS-CoV-2 genetics, Vaccination, COVID-19 prevention control, and Liver Transplantation

43. The impact of Mendelian sleep and circadian genetic variants in a population setting. [2022]

  • Weedon MN, Jones SE, Lane JM, Lee J, Ollila HM, Dawes A, Tyrrell J, Beaumont RN, Partonen T, Merikanto I, Rich SS, Rotter JI, Frayling TM, Rutter MK, Redline S, Sofer T, Saxena R, and Wood AR
  • PLoS genetics [PLoS Genet] 2022 Sep 22; Vol. 18 (9), pp. e1010356. Date of Electronic Publication: 2022 Sep 22 (Print Publication: 2022).
Subjects
Humans, Phenotype, Receptors, G-Protein-Coupled genetics, Sleep genetics, Circadian Rhythm genetics, and Sleep Wake Disorders genetics
Abstract
Rare variants in ten genes have been reported to cause Mendelian sleep conditions characterised by extreme sleep duration or timing. These include familial natural short sleep (ADRB1, DEC2/BHLHE41, GRM1 and NPSR1), advanced sleep phase (PER2, PER3, CRY2, CSNK1D and TIMELESS) and delayed sleep phase (CRY1). The association of variants in these genes with extreme sleep conditions were usually based on clinically ascertained families, and their effects when identified in the population are unknown. We aimed to determine the effects of these variants on sleep traits in large population-based cohorts. We performed genetic association analysis of variants previously reported to be causal for Mendelian sleep and circadian conditions. Analyses were performed using 191,929 individuals with data on sleep and whole-exome or genome-sequence data from 4 population-based studies: UK Biobank, FINRISK, Health-2000-2001, and the Multi-Ethnic Study of Atherosclerosis (MESA). We identified sleep disorders from self-report, hospital and primary care data. We estimated sleep duration and timing measures from self-report and accelerometery data. We identified carriers for 10 out of 12 previously reported pathogenic variants for 8 of the 10 genes. They ranged in frequency from 1 individual with the variant in CSNK1D to 1,574 individuals with a reported variant in the PER3 gene in the UK Biobank. No carriers for variants reported in NPSR1 or PER2 were identified. We found no association between variants analyzed and extreme sleep or circadian phenotypes. Using sleep timing as a proxy measure for sleep phase, only PER3 and CRY1 variants demonstrated association with earlier and later sleep timing, respectively; however, the magnitude of effect was smaller than previously reported (sleep midpoint ~7 mins earlier and ~5 mins later, respectively). We also performed burden tests of protein truncating (PTVs) or rare missense variants for the 10 genes. Only PTVs in PER2 and PER3 were associated with a relevant trait (for example, 64 individuals with a PTV in PER2 had an odds ratio of 4.4 for being "definitely a morning person", P = 4x10-8; and had a 57-minute earlier midpoint sleep, P = 5x10-7). Our results indicate that previously reported variants for Mendelian sleep and circadian conditions are often not highly penetrant when ascertained incidentally from the general population.
Competing Interests: The authors have declared that no competing interests exist.

44. Which drinkers have changed their alcohol consumption due to energy content concerns? An Australian survey. [2022]

  • Bowden J, Harrison NJ, Caruso J, Room R, Pettigrew S, Olver I, and Miller C
  • BMC public health [BMC Public Health] 2022 Sep 19; Vol. 22 (1), pp. 1775. Date of Electronic Publication: 2022 Sep 19.
Subjects
Adult, Australia epidemiology, Female, Humans, Male, Risk Factors, Surveys and Questionnaires, Alcohol Drinking epidemiology, and Diet
Abstract
Background: Alcohol is a discretionary, energy dense, dietary component. Compared to non-drinkers, people who consume alcohol report higher total energy intake and may be at increased risk of weight gain, overweight, and obesity, which are key preventable risk factors for illness. However, accurate consumer knowledge of the energy content in alcohol is low. To inform future behaviour change interventions among drinkers, this study investigated individual characteristics associated with changing alcohol consumption due to energy-related concerns.
Methods: An online survey was undertaken with 801 Australian adult drinkers (18-59 years, 50.2% female), i.e. who consumed alcohol at least monthly. In addition to demographic and health-related characteristics, participants reported past-year alcohol consumption, past-year reductions in alcohol consumption, frequency of harm minimisation strategy use (when consuming alcohol), and frequency of changing alcohol consumption behaviours because of energy-related concerns.
Results: When prompted, 62.5% of participants reported changing alcohol consumption for energy-related reasons at least 'sometimes'. Women, those aged 30-44 years, metropolitan residents, those with household income $80,001-120,000, and risky/more frequent drinkers had increased odds of changing consumption because of energy-related concerns, and unemployed respondents had reduced odds.
Conclusions: Results indicate that some sociodemographic groups are changing alcohol consumption for energy-related reasons, but others are not, representing an underutilised opportunity for health promotion communication. Further research should investigate whether messaging to increase awareness of alcohol energy content, including through systems-based policy actions such as nutritional/energy product labelling, would motivate reduced consumption across a broader range of drinkers.
(© 2022. The Author(s).)

45. Incidence and Severity of COVID-19 Among Vaccinated Solid Organ Transplant Recipients During the Omicron Wave. [2022]

  • Alejo JL, Chiang TPY, Bowles Zeiser L, Kim JD, Mitchell J, Avery RK, Tobian AAR, Abedon RR, Levan ML, Warren DS, Garonzik-Wang JM, Massie AB, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 Sep 01; Vol. 106 (9), pp. e413-e415. Date of Electronic Publication: 2022 Jun 03.
Subjects
Humans, Incidence, Transplant Recipients, COVID-19 epidemiology, COVID-19 prevention control, and Organ Transplantation adverse effects
Abstract
Competing Interests: D.L.S. has the following financial disclosures: consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, Thermo Fisher Scientific, Regeneron, and AstraZeneca. R.K.A. is an associate editor of Transplantation and has grant/research support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, Regeneron, and Takeda/Shire. M.L.L. is a Social Media Editor for Transplantation and receives consulting honoraria that are not related to her authorship of the article from Takeda/Patients Like Me. The other authors declare no conflicts of interest.

46. Immunogenicity of Ad26.COV2.S prime and two subsequent doses of mRNA SARS-CoV-2 vaccines in solid organ transplant recipients: A case series. [2022]

  • Chang A, Mitchell J, Alejo JL, Chiang TPY, Abedon AT, Kim JD, Avery RK, Tobian AAR, Levan ML, Warren DS, Garonzik-Wang JM, Massie AB, Segev DL, and Werbel WA
  • Clinical transplantation [Clin Transplant] 2022 Sep; Vol. 36 (9), pp. e14772. Date of Electronic Publication: 2022 Jul 19.
Subjects
Ad26COVS1, Antibodies, Viral, COVID-19 Vaccines, Humans, RNA, Messenger, SARS-CoV-2 genetics, Transplant Recipients, COVID-19 epidemiology, COVID-19 prevention control, and Organ Transplantation adverse effects

47. Heterologous Ad.26.COV2.S versus homologous BNT162b2/mRNA-1273 as a third dose in solid organ transplant recipients seronegative after two-dose mRNA vaccination. [2022]

  • Chiang TP, Alejo JL, Mitchell J, Kim JD, Abedon AT, Karaba AH, Thomas L, Levan ML, Garonzik-Wang JM, Avery RK, Pekosz A, Clarke WA, Warren DS, Tobian AAR, Massie AB, Segev DL, and Werbel WA
  • American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons [Am J Transplant] 2022 Sep; Vol. 22 (9), pp. 2254-2260. Date of Electronic Publication: 2022 May 03.
Subjects
Antibodies, Viral, COVID-19 Vaccines adverse effects, Humans, RNA, Messenger genetics, SARS-CoV-2, Transplant Recipients, Vaccination, 2019-nCoV Vaccine mRNA-1273 adverse effects, BNT162 Vaccine adverse effects, COVID-19 epidemiology, COVID-19 prevention control, Influenza Vaccines, and Organ Transplantation adverse effects
Abstract
Heterologous vaccination ("mixing platforms") for the third (D3) dose of SARS-CoV-2 vaccine is a potential strategy to improve antibody responses in solid organ transplant recipients (SOTRs), but data are mixed regarding potential differential immunogenicity. We assessed for differences in immunogenicity and tolerability of homologous (BNT162b2 or mRNA-1273; D3-mRNA) versus heterologous (Ad.26.COV2.S; D3-JJ) D3 among 377 SARS-CoV-2-infection naïve SOTRs who remained seronegative after two mRNA vaccines. We measured anti-spike titers and used weighted Poisson regression to evaluate seroconversion and development of high-titers, comparing D3-JJ to D3-mRNA, at 1-, 3-, and 6 month post-D3. 1-month post-D3, seroconversion (63% vs. 52%, p = .3) and development of high-titers (29% vs. 25%, p = .7) were comparable between D3-JJ and D3-mRNA recipients. 3 month post-D3, D3-JJ recipients were 1.4-fold more likely to seroconvert (80% vs. 57%, weighted incidence-rate-ratio: wIRR =  1.10 1.40 1.77 , p = .006) but not more likely to develop high-titers (27% vs. 22%, wIRR =  0.44 0.92 1.93 , p = .8). 6 month post-D3, D3-JJ recipients were 1.41-fold more likely to seroconvert (88% vs. 59%, wIRR =  1.04 1.41 1.93 , p = .029) and 2.63-fold more likely to develop high-titers (59% vs. 21%, wIRR =  1.38 2.63 5.00 , p = .003). There was no differential signal in alloimmune events or reactogenicity between platforms. SOTRs without antibody response after two mRNA vaccines may derive benefit from heterologous Ad.26.COV2.S D3.
(© 2022 The Authors. American Journal of Transplantation published by Wiley Periodicals LLC on behalf of The American Society of Transplantation and the American Society of Transplant Surgeons.)

48. Location-specific psychosocial and environmental correlates of physical activity and sedentary time in young adolescents: preliminary evidence for location-specific approaches from a cross-sectional observational study. [2022]

  • Ortega A, Bejarano CM, Cushing CC, Staggs VS, Papa AE, Steel C, Shook RP, Conway TL, Saelens BE, Glanz K, Cain KL, Frank LD, Kerr J, Schipperijn J, Sallis JF, and Carlson JA
  • The international journal of behavioral nutrition and physical activity [Int J Behav Nutr Phys Act] 2022 Aug 26; Vol. 19 (1), pp. 108. Date of Electronic Publication: 2022 Aug 26.
Subjects
Adolescent, Cross-Sectional Studies, Exercise, Humans, Schools, Residence Characteristics, and Sedentary Behavior
Abstract
Background: A better understanding of the extent to which psychosocial and environmental correlates of physical activity are specific to locations would inform intervention optimization.
Purpose: To investigate cross-sectional associations of location-general and location-specific variables with physical activity and sedentary time in three common locations adolescents spend time.
Methods: Adolescents (N = 472,M age  = 14.1,SD = 1.5) wore an accelerometer and global positioning systems (GPS) tracker and self-reported on psychosocial (e.g., self-efficacy) and environmental (e.g., equipment) factors relevant to physical activity and sedentary time. We categorized each survey item based on whether it was specific to a location to generate psychosocial and environmental indices that were location-general or specific to either school, non-school, or home location. Physical activity (MVPA) and sedentary time were based on time/location match to home, school, or all "other" locations. Mixed-effects models investigated the relation of each index with location-specific activity.
Results: The location-general and non-school physical activity psychosocial indices were related to greater MVPA at school and "other" locations. The school physical activity environment index was related to greater MVPA and less sedentary time at school. The home activity environment index was related to greater MVPA at home. The non-school sedentary psychosocial index was related to less sedentary time at home. Interactions among indices revealed adolescents with low support on one index benefited (i.e., exhibited more optimal behavior) from high support on another index (e.g., higher scores on the location-general PA psychosocial index moderated lower scores on the home PA environment index). Concurrent high support on two indices did not provide additional benefit.
Conclusions: No psychosocial or environment indices, including location-general indices, were related to activity in all locations. Most of the location-specific indices were associated with activity in the matching location(s). These findings provide preliminary evidence that psychosocial and environmental correlates of activity are location specific. Future studies should further develop location-specific measures and evaluate these constructs and whether interventions may be optimized by targeting location-specific psychosocial and environmental variables across multiple locations.
(© 2022. The Author(s).)

49. Virtual Ontogeny of Cortical Growth Preceding Mental Illness. [2022]

  • Patel Y, Shin J, Abé C, Agartz I, Alloza C, Alnæs D, Ambrogi S, Antonucci LA, Arango C, Arolt V, Auzias G, Ayesa-Arriola R, Banaj N, Banaschewski T, Bandeira C, Başgöze Z, Cupertino RB, Bau CHD, Bauer J, Baumeister S, Bernardoni F, Bertolino A, Bonnin CDM, Brandeis D, Brem S, Bruggemann J, Bülow R, Bustillo JR, Calderoni S, Calvo R, Canales-Rodríguez EJ, Cannon DM, Carmona S, Carr VJ, Catts SV, Chenji S, Chew QH, Coghill D, Connolly CG, Conzelmann A, Craven AR, Crespo-Facorro B, Cullen K, Dahl A, Dannlowski U, Davey CG, Deruelle C, Díaz-Caneja CM, Dohm K, Ehrlich S, Epstein J, Erwin-Grabner T, Eyler LT, Fedor J, Fitzgerald J, Foran W, Ford JM, Fortea L, Fuentes-Claramonte P, Fullerton J, Furlong L, Gallagher L, Gao B, Gao S, Goikolea JM, Gotlib I, Goya-Maldonado R, Grabe HJ, Green M, Grevet EH, Groenewold NA, Grotegerd D, Gruber O, Haavik J, Hahn T, Harrison BJ, Heindel W, Henskens F, Heslenfeld DJ, Hilland E, Hoekstra PJ, Hohmann S, Holz N, Howells FM, Ipser JC, Jahanshad N, Jakobi B, Jansen A, Janssen J, Jonassen R, Kaiser A, Kaleda V, Karantonis J, King JA, Kircher T, Kochunov P, Koopowitz SM, Landén M, Landrø NI, Lawrie S, Lebedeva I, Luna B, Lundervold AJ, MacMaster FP, Maglanoc LA, Mathalon DH, McDonald C, McIntosh A, Meinert S, Michie PT, Mitchell P, Moreno-Alcázar A, Mowry B, Muratori F, Nabulsi L, Nenadić I, O'Gorman Tuura R, Oosterlaan J, Overs B, Pantelis C, Parellada M, Pariente JC, Pauli P, Pergola G, Piarulli FM, Picon F, Piras F, Pomarol-Clotet E, Pretus C, Quidé Y, Radua J, Ramos-Quiroga JA, Rasser PE, Reif A, Retico A, Roberts G, Rossell S, Rovaris DL, Rubia K, Sacchet M, Salavert J, Salvador R, Sarró S, Sawa A, Schall U, Scott R, Selvaggi P, Silk T, Sim K, Skoch A, Spalletta G, Spaniel F, Stein DJ, Steinsträter O, Stolicyn A, Takayanagi Y, Tamm L, Tavares M, Teumer A, Thiel K, Thomopoulos SI, Tomecek D, Tomyshev AS, Tordesillas-Gutiérrez D, Tosetti M, Uhlmann A, Van Rheenen T, Vazquez-Bourgón J, Vernooij MW, Vieta E, Vilarroya O, Weickert C, Weickert T, Westlye LT, Whalley H, Willinger D, Winter A, Wittfeld K, Yang TT, Yoncheva Y, Zijlmans JL, Hoogman M, Franke B, van Rooij D, Buitelaar J, Ching CRK, Andreassen OA, Pozzi E, Veltman D, Schmaal L, van Erp TGM, Turner J, Castellanos FX, Pausova Z, Thompson P, and Paus T
  • Biological psychiatry [Biol Psychiatry] 2022 Aug 15; Vol. 92 (4), pp. 299-313. Date of Electronic Publication: 2022 Mar 04.
Subjects
Cerebral Cortex, Child, Female, Humans, Infant, Newborn, Magnetic Resonance Imaging methods, Pregnancy, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder genetics, Autism Spectrum Disorder pathology, Bipolar Disorder, Depressive Disorder, Major pathology, and Premature Birth pathology
Abstract
Background: Morphology of the human cerebral cortex differs across psychiatric disorders, with neurobiology and developmental origins mostly undetermined. Deviations in the tangential growth of the cerebral cortex during pre/perinatal periods may be reflected in individual variations in cortical surface area later in life.
Methods: Interregional profiles of group differences in surface area between cases and controls were generated using T1-weighted magnetic resonance imaging from 27,359 individuals including those with attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depressive disorder, schizophrenia, and high general psychopathology (through the Child Behavior Checklist). Similarity of interregional profiles of group differences in surface area and prenatal cell-specific gene expression was assessed.
Results: Across the 11 cortical regions, group differences in cortical area for attention-deficit/hyperactivity disorder, schizophrenia, and Child Behavior Checklist were dominant in multimodal association cortices. The same interregional profiles were also associated with interregional profiles of (prenatal) gene expression specific to proliferative cells, namely radial glia and intermediate progenitor cells (greater expression, larger difference), as well as differentiated cells, namely excitatory neurons and endothelial and mural cells (greater expression, smaller difference). Finally, these cell types were implicated in known pre/perinatal risk factors for psychosis. Genes coexpressed with radial glia were enriched with genes implicated in congenital abnormalities, birth weight, hypoxia, and starvation. Genes coexpressed with endothelial and mural genes were enriched with genes associated with maternal hypertension and preterm birth.
Conclusions: Our findings support a neurodevelopmental model of vulnerability to mental illness whereby prenatal risk factors acting through cell-specific processes lead to deviations from typical brain development during pregnancy.
(Copyright © 2022 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.)

50. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. [2022]

  • Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Lee WJ, Hsiung CA, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Schönherr S, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Le P, Feitosa MF, Wojczynski MK, Hemerich D, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Noah TL, Verma A, Slieker RC, Lo KS, Zilhao NR, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Emmel C, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Sankareswaran A, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Morgan A, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, He KY, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Ida Chen YD, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Scott LJ, Koistinen HA, Chandak GR, Mercader JM, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Jin ZB, Lu F, Hishigaki H, Lin X, März W, Gudnason V, Tardif JC, Lettre G, T Hart LM, Elders PJM, Rader DJ, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Parra EJ, Cruz M, Psaty BM, Brandslund I, Pramstaller PP, Rotimi CN, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney L, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, Willems van Dijk K, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Huey-Herng Sheu W, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Li H, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ikram A, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Tuomilehto J, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, Hazelhurst S, Ramsay M, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Baras A, Justice AE, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Tamiya G, Yamamoto M, van Heel DA, Trembath RC, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Kim BJ, Thorsteinsdottir U, Stefansson K, Zhang J, Chen YE, Ho YL, Lynch JA, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S, Boehnke M, Struan Grant, Natarajan P, Sun YV, Morris AP, Deloukas P, Peloso G, Assimes TL, Willer CJ, Zhu X, and Brown CD
  • American journal of human genetics [Am J Hum Genet] 2022 Aug 04; Vol. 109 (8), pp. 1366-1387.
Subjects
Chromatin genetics, Genomics, Humans, Lipids genetics, Genome-Wide Association Study, and Polymorphism, Single Nucleotide genetics
Abstract
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
Competing Interests: Declaration of interests G.C.-P. is currently an employee of 23andMe Inc. M.J.C. is the Chief Scientist for Genomics England, a UK Government company. B.M. Psaty serves on the steering committee of the Yale Open Data Access Project funded by Johnson & Johnson. G. Thorleifsson, A.H., D.F.G., H. Holm, U.T., and K.S. are employees of deCODE/Amgen Inc. V.S. has received honoraria for consultations from Novo Nordisk and Sanofi and has an ongoing research collaboration with Bayer Ltd. M. McCarthy has served on advisory panels for Pfizer, NovoNordisk, and Zoe Global and has received honoraria from Merck, Pfizer, Novo Nordisk, and Eli Lilly and research funding from Abbvie, Astra Zeneca, Boehringer Ingelheim, Eli Lilly, Janssen, Merck, NovoNordisk, Pfizer, Roche, Sanofi Aventis, Servier, and Takeda. M. McCarthy and A. Mahajan are employees of Genentech and holders of Roche stock. M.S. receives funding from Pfizer Inc. for a project unrelated to this work. M.E.K. is employed by SYNLAB MVZ Mannheim GmbH. W.M. has received grants from Siemens Healthineers, grants and personal fees from Aegerion Pharmaceuticals, grants and personal fees from AMGEN, grants from Astrazeneca, grants and personal fees from Sanofi, grants and personal fees from Alexion Pharmaceuticals, grants and personal fees from BASF, grants and personal fees from Abbott Diagnostics, grants and personal fees from Numares AG, grants and personal fees from Berlin-Chemie, grants and personal fees from Akzea Therapeutics, grants from Bayer Vital GmbH , grants from bestbion dx GmbH, grants from Boehringer Ingelheim Pharma GmbH Co KG, grants from Immundiagnostik GmbH, grants from Merck Chemicals GmbH, grants from MSD Sharp and Dohme GmbH, grants from Novartis Pharma GmbH, grants from Olink Proteomics, and other from Synlab Holding Deutschland GmbH, all outside the submitted work. A.V.K. has served as a consultant to Sanofi, Medicines Company, Maze Pharmaceuticals, Navitor Pharmaceuticals, Verve Therapeutics, Amgen, and Color Genomics; received speaking fees from Illumina and the Novartis Institute for Biomedical Research; received sponsored research agreements from the Novartis Institute for Biomedical Research and IBM Research, and reports a patent related to a genetic risk predictor (20190017119). S. Kathiresan is an employee of Verve Therapeutics and holds equity in Verve Therapeutics, Maze Therapeutics, Catabasis, and San Therapeutics. He is a member of the scientific advisory boards for Regeneron Genetics Center and Corvidia Therapeutics; he has served as a consultant for Acceleron, Eli Lilly, Novartis, Merck, Novo Nordisk, Novo Ventures, Ionis, Alnylam, Aegerion, Haug Partners, Noble Insights, Leerink Partners, Bayer Healthcare, Illumina, Color Genomics, MedGenome, Quest, and Medscape; and he reports patents related to a method of identifying and treating a person having a predisposition to or afflicted with cardiometabolic disease (20180010185) and a genetics risk predictor (20190017119). D.K. accepts consulting fees from Regeneron Pharmaceuticals. D.O.M.-K. is a part-time clinical research consultant for Metabolon, Inc. D. Saleheen has received support from the British Heart Foundation, Pfizer, Regeneron, Genentech, and Eli Lilly pharmaceuticals. P.N. reports investigator-initated grants from Amgen, Apple, AstraZeneca, Boston Scientific, and Novartis, personal fees from Apple, AstraZeneca, Blackstone Life Sciences, Foresite Labs, Novartis, Roche / Genentech, is a co-founder of TenSixteen Bio, is a scientific advisory board member of Esperion Therapeutics, geneXwell, and TenSixteen Bio, and spousal employment at Vertex, all unrelated to the present work. The spouse of C.J.W. is employed by Regeneron.
(Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

51. Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. [2022]

  • González BJ, Zhao H, Niu J, Williams DJ, Lee J, Goulbourne CN, Xing Y, Wang Y, Oberholzer J, Blumenkrantz MH, Chen X, LeDuc CA, Chung WK, Colecraft HM, Gromada J, Shen Y, Goland RS, Leibel RL, and Egli D
  • Communications biology [Commun Biol] 2022 Aug 02; Vol. 5 (1), pp. 779. Date of Electronic Publication: 2022 Aug 02.
Subjects
Calcium metabolism, Hepatocyte Nuclear Factor 1-alpha genetics, Hepatocyte Nuclear Factor 1-alpha metabolism, Humans, Insulin, Regular, Human, Stem Cells metabolism, Synaptotagmins, Diabetes Mellitus, Type 2 genetics, and Insulin metabolism
Abstract
Mutations in HNF1A cause Maturity Onset Diabetes of the Young (HNF1A-MODY). To understand mechanisms of β-cell dysfunction, we generated stem cell-derived pancreatic endocrine cells with hypomorphic mutations in HNF1A. HNF1A-deficient β-cells display impaired basal and glucose stimulated-insulin secretion, reduced intracellular calcium levels in association with a reduction in CACNA1A expression, and accumulation of abnormal insulin granules in association with SYT13 down-regulation. Knockout of CACNA1A and SYT13 reproduce the relevant phenotypes. In HNF1A deficient β-cells, glibenclamide, a sulfonylurea drug used in the treatment of HNF1A-MODY patients, increases intracellular calcium, and restores insulin secretion. While insulin secretion defects are constitutive in β-cells null for HNF1A, β-cells heterozygous for hypomorphic HNF1A (R200Q) mutations lose the ability to secrete insulin gradually; this phenotype is prevented by correction of the mutation. Our studies illuminate the molecular basis for the efficacy of treatment of HNF1A-MODY with sulfonylureas, and suggest promise for the use of cell therapies.
(© 2022. The Author(s).)

52. The Kaiser Permanente Northern California Advance Alert Monitor Program: An Automated Early Warning System for Adults at Risk for In-Hospital Clinical Deterioration. [2022]

  • Martinez VA, Betts RK, Scruth EA, Buckley JD, Cadiz VR, Bertrand LD, Paulson SS, Dummett BA, Abhyankar SS, Reyes VM, Hatton JR, Sulit R, and Liu VX
  • Joint Commission journal on quality and patient safety [Jt Comm J Qual Patient Saf] 2022 Aug; Vol. 48 (8), pp. 370-375.
Subjects
Adult, Artificial Intelligence, Hospitals, Humans, Inpatients, Monitoring, Physiologic, and Clinical Deterioration
Abstract
Background: In-hospital deterioration among ward patients is associated with substantially increased adverse outcome rates. In 2013 Kaiser Permanente Northern California (KPNC) developed and implemented a predictive analytics-driven program, Advance Alert Monitor (AAM), to improve early detection and intervention for in-hospital deterioration. The AAM predictive model is designed to give clinicians 12 hours of lead time before clinical deterioration, permitting early detection and a patient goals-concordant response to prevent worsening.
Design of the Aam Intervention: Across the 21 hospitals of the KPNC integrated health care delivery system, AAM analyzes electronic health record (EHR) data for patients in medical/surgical and telemetry units 24 hours a day, 7 days a week. Patients identified as high risk by the AAM algorithm trigger an alert for a regional team of experienced critical care virtual quality nurse consultants (VQNCs), who then cascade validated, actionable information to rapid response team (RRT) nurses at local hospitals. RRT nurses conduct bedside assessments of at-risk patients and formulate interdisciplinary clinical responses with hospital-based physicians, bedside nurses, and supportive care teams to ensure a well-defined escalation plan that includes clarification of the patients' goals of care.
Success of the Intervention: Since 2019 the AAM program has been implemented at all 21 KPNC hospitals. The use of predictive modeling embedded within the EHR to identify high-risk patients has produced the standardization of monitoring workflows, clinical rescue protocols, and coordination to ensure that care is consistent with patients' individual goals of care. An evaluation of the program, using a staggered deployment sequence over 19 hospitals, demonstrates that the AAM program is associated with statistically significant decreases in mortality (9.8% vs. 14.4%), hospital length of stay, and ICU length of stay. Statistical analyses estimated that more than 500 deaths were prevented each year with the AAM program.
Lessons Learned: Unlocking the potential of predictive modeling in the EHR is the first step toward realizing the promise of artificial intelligence/machine learning (AI/ML) to improve health outcomes. The AAM program leveraged predictive analytics to produce highly reliable care by identifying at-risk patients, preventing deterioration, and reducing adverse outcomes and can be used as a model for how clinical decision support and inpatient population management can effectively improve care.
(Copyright © 2022 The Joint Commission. Published by Elsevier Inc. All rights reserved.)

53. Improved humoral immunogenicity with mRNA-1273 versus BNT162b2 as third vaccine dose among solid organ transplant recipients seronegative after two BNT162b2 doses. [2022]

  • Chang A, Chiang TP, Kim JD, Mitchell J, Alejo JL, Jefferis AA, Avery RK, Tobian AAR, Levan ML, Warren DS, Garonzik-Wang JM, Massie AB, Segev DL, and Werbel WA
  • Clinical transplantation [Clin Transplant] 2022 Aug; Vol. 36 (8), pp. e14738. Date of Electronic Publication: 2022 Jun 14.
Subjects
2019-nCoV Vaccine mRNA-1273, Antibodies, Viral, BNT162 Vaccine, Humans, Transplant Recipients, Influenza Vaccines, and Organ Transplantation adverse effects

54. Severe acute respiratory syndrome coronavirus 2 antibody response to a third dose of homologous messenger RNA vaccination in liver transplantation recipients. [2022]

  • Strauss AT, Chang A, Alejo JL, Chiang TP, Hernandez NF, Zeiser LB, Boyarsky BJ, Avery RK, Tobian AAR, Levan ML, Warren DS, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society [Liver Transpl] 2022 Aug; Vol. 28 (8), pp. 1393-1396. Date of Electronic Publication: 2022 May 09.
Subjects
Antibodies, Viral, Antibody Formation, Humans, RNA, Messenger, SARS-CoV-2 genetics, Transplant Recipients, Vaccination, COVID-19 prevention control, and Liver Transplantation adverse effects

55. Levels of Parental Drinking in the Presence of Children: An Exploration of Attitudinal Correlates. [2022]

  • Bowden JA, Delfabbro P, Room R, Miller CL, and Wilson C
  • Alcohol and alcoholism (Oxford, Oxfordshire) [Alcohol Alcohol] 2022 Jul 09; Vol. 57 (4), pp. 460-469.
Subjects
Adult, Australia epidemiology, Child, Cross-Sectional Studies, Female, Humans, Parents, Alcohol Drinking epidemiology, and Alcoholic Intoxication
Abstract
Aims: This study aimed to examine perceived social norms, the effect of parental drinking on these norms, alcohol use in front of children, and how norms and consumption vary based on child age and gender of the parent.
Methods: A cross-sectional online panel survey was undertaken with n = 1000 Australian adults (including 670 parents) aged 18-59 years. The survey assessed: alcohol consumption in front of children; normative attitudes towards drinking in the presence of children; and perceived social norms.
Results: Overall, 33.9% of parents reported drinking a glass of alcohol each day or a couple of times a week, 18.2% reported getting slightly drunk and 7.8% indicated getting visibly drunk each day or a couple of times a week with their children present. In total, 37.5% reported drinking in front of their children at least weekly. Fathers were more likely to drink in front of children than mothers. Most parents deemed drinking small amounts of alcohol in front of children as acceptable but did not accept drunkenness. Respondents were less concerned about a father drinking one or two drinks in front of their children than a mother. Social expectations were not related to child age, but norms related to others' perceived behaviour were.
Conclusions: Many parents, particularly fathers consume alcohol in front of their children. There is a need to target health promotion strategies to adults and parents consuming in excess of health guidelines, and to the many parents who are consuming alcohol at higher levels in front of their children.
(© The Author(s) 2021. Medical Council on Alcohol and Oxford University Press.)

56. Antibody Response to a Fourth Dose of SARS-CoV-2 Vaccine in Solid Organ Transplant Recipients: An Update. [2022]

  • Mitchell J, Alejo JL, Chiang TPY, Kim J, Chang A, Abedon AT, Avery RK, Tobian AAR, Massie AB, Levan ML, Warren DS, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 Jul 01; Vol. 106 (7), pp. e338-e340. Date of Electronic Publication: 2022 Apr 15.
Subjects
Antibodies, Viral, Antibody Formation, COVID-19 Vaccines, Humans, SARS-CoV-2, Transplant Recipients, COVID-19 prevention control, and Organ Transplantation adverse effects
Abstract
Competing Interests: D.L.S. has the following financial disclosures: consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, Thermo Fisher Scientific, Regeneron, and AstraZeneca. R.K.A. has study/grant support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, Regeneron, Takeda/Shire, and Vir/GSK and is an Associate Reviewer for Transplantation. M.L.L. is the Social Media Editor for Transplantation. The other authors declare no conflicts of interest.

57. New Directions in Feminism and Global Race Studies: A Book Conversation. [2022]

  • Florvil, Tiffany N., Glover, Kaiama L., Joseph-Gabriel, Annette K., Marino, Katherine M., Mitchell, Robin, Mogoué, Jacqueline-Bethel, and Pinto, Samantha
  • Signs: Journal of Women in Culture & Society. Summer2022, Vol. 47 Issue 4, p1013-1040. 28p.
Subjects
BLACK feminism, HISTORY of feminism, FEMINISM, BLACK feminists, WORLD history, CONVERSATION, and RACISM
Abstract
This roundtable stems from a Zoom event, "New Directions in Feminism and Global Race Studies (a Book Conversation)" with authors Tiffany N. Florvil, Kaiama L. Glover, Annette K. Joseph-Gabriel, Katherine M. Marino, Robin Mitchell, and Jacqueline-Bethel Tchouta Mougoué, hosted by Samantha Pinto. These scholars discussed their recently published books, which expand how we think about transnational feminism and global Black feminisms in the Americas, the Caribbean, Africa, and Europe. The lightly edited transcript of the conversation explores how putting Black women at the center of histories of global feminisms and race studies transforms these fields and the questions that are usually asked. The authors also discussed navigating research challenges and confronting racism in the sources and in the archives. The conversation underscores the importance of intellectual community, as well as the relevance and urgency of Black feminist scholarship today. [ABSTRACT FROM AUTHOR]

58. Decade-long disease, secondary malignancy, and brainstem injury outcomes in pediatric and young adult medulloblastoma patients treated with proton radiotherapy. [2022]

  • Baliga S, Gallotto S, Bajaj B, Lewy J, Weyman E, Lawell MP, Yeap BY, Ebb DE, Huang M, Caruso P, Perry A, Jones RM, MacDonald SM, Tarbell NJ, and Yock TI
  • Neuro-oncology [Neuro Oncol] 2022 Jun 01; Vol. 24 (6), pp. 1010-1019.
Subjects
Brain Stem, Child, Cohort Studies, Humans, Protons, Young Adult, Cerebellar Neoplasms drug therapy, and Medulloblastoma drug therapy
Abstract
Background: Survivors of pediatric medulloblastoma experience long-term morbidity associated with the toxic effects of postoperative radiotherapy (RT). Proton RT limits radiation dose to normal tissues thereby reducing side effects of treatment while maintaining high cure rates. However, long-term data on disease outcomes and long-term effects of proton RT remain limited.
Methods: One hundred seventy-eight pediatric medulloblastoma patients treated with proton RT between 2002 and 2016 at the Massachusetts General Hospital comprise the cohort of patients who were treated with surgery, radiation therapy, and chemotherapy. We evaluated event-free survival (EFS), overall survival (OS), and local control using the Kaplan-Meier method. The cumulative incidence of brainstem injury and secondary malignancies was assessed.
Results: Median follow-up was 9.3 years. One hundred fifty-nine patients (89.3%) underwent a gross total resection (GTR). The 10-year OS for the entire cohort, standard-risk (SR), and intermediate/high-risk (IR/HR) patients was 79.3%, 86.9%, and 68.9%, respectively. The 10-year EFS for the entire cohort, SR, and IR/HR cohorts was 73.8%, 79.5%, and 66.2%. The 10-year EFS and OS for patients with GTR/NTR were 75.3% and 81.0% vs 57.7% and 61.0% for subtotal resection (STR). On univariate analysis, IR/HR status was associated with inferior EFS, while both anaplastic histology and IR/HR status were associated with worse OS. The 10-year cumulative incidence of secondary tumors and brainstem injury was 5.6% and 2.1%, respectively.
Conclusions: In this cohort study of pediatric medulloblastoma, proton RT was effective, and disease outcomes were comparable to historically treated photon cohorts. The incidence of secondary malignancies and brainstem injury was low in this cohort with mature follow-up.
(© The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

59. Left Atrial Strain Has Superior Prognostic Value to Ventricular Function and Delayed-Enhancement in Dilated Cardiomyopathy. [2022]

  • Raafs AG, Vos JL, Henkens MTHM, Slurink BO, Verdonschot JAJ, Bossers D, Roes K, Gerretsen S, Knackstedt C, Hazebroek MR, Nijveldt R, and Heymans SRB
  • JACC. Cardiovascular imaging [JACC Cardiovasc Imaging] 2022 Jun; Vol. 15 (6), pp. 1015-1026. Date of Electronic Publication: 2022 May 11.
Subjects
Contrast Media, Female, Gadolinium, Heart Atria, Humans, Magnetic Resonance Imaging, Cine, Male, Middle Aged, Predictive Value of Tests, Prognosis, Stroke Volume, Ventricular Function, Left, Cardiomyopathy, Dilated, and Ventricular Dysfunction, Left
Abstract
Background: The left atrium is an early sensor of left ventricular (LV) dysfunction. Still, the prognostic value of left atrial (LA) function (strain) on cardiac magnetic resonance (CMR) in dilated cardiomyopathy (DCM) remains unknown.
Objectives: The goal of this study was to evaluate the prognostic value of CMR-derived LA strain in DCM.
Methods: Patients with DCM from the Maastricht Cardiomyopathy Registry with available CMR imaging were included. The primary endpoint was the combination of sudden or cardiac death, heart failure (HF) hospitalization, or life-threatening arrhythmias. Given the nonlinearity of continuous variables, cubic spline analysis was performed to dichotomize.
Results: A total of 488 patients with DCM were included (median age: 54 [IQR: 46-62] years; 61% male). Seventy patients (14%) reached the primary endpoint (median follow-up: 6 [IQR: 4-9] years). Age, New York Heart Association (NYHA) functional class >II, presence of late gadolinium enhancement (LGE), LV ejection fraction (LVEF), LA volume index (LAVI), LV global longitudinal strain (GLS), and LA reservoir and conduit strain were univariably associated with the outcome (all P < 0.02). LA conduit strain was a stronger predictor of outcome compared with reservoir strain. LA conduit strain, NYHA functional class >II, and LGE remained associated in the multivariable model (LA conduit strain HR: 3.65 [95% CI: 2.01-6.64; P < 0.001]; NYHA functional class >II HR: 1.81 [95% CI: 1.05-3.12; P = 0.033]; and LGE HR: 2.33 [95% CI: 1.42-3.85; P < 0.001]), whereas age, N-terminal pro-B-type natriuretic peptide, LVEF, left atrial ejection fraction, LAVI, and LV GLS were not. Adding LA conduit strain to other independent predictors (NYHA functional class and LGE) significantly improved the calibration, accuracy, and reclassification of the prediction model (P < 0.05).
Conclusions: LA conduit strain on CMR is a strong independent prognostic predictor in DCM, superior to LV GLS, LVEF, and LAVI and incremental to LGE. Including LA conduit strain in DCM patient management should be considered to improve risk stratification.
Competing Interests: Funding Support and Author Disclosures This study was supported by the Netherlands Cardiovascular Research Initiative, an initiative with support of the Dutch Heart Foundation, CVON She-PREDICTS, grant 2017-21, CVON-DCVA Double Dosis 2021. Dr Heymans has provided current and previous scientific advice to AstraZeneca, CellProthera, Novo Nordisk, Bayer, Pfizer, CSL Behring, and Merck on heart failure and cardiomyopathies. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
(Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

60. Combination Therapy With Casirivimab/Imdevimab and Remdesivir for Protracted SARS-CoV-2 Infection in B-cell-Depleted Patients. [2022]

  • Dioverti, M Veronica, Gaston, David C, Morris, C Paul, Huff, Carol Ann, Jain, Tania, Jones, Richard, Anders, Viki, Lederman, Howard, Saunders, Jacqueline, Mostafa, Heba H, and Avery, Robin K
  • Open Forum Infectious Diseases. Jun2022, Vol. 9 Issue 6, p1-5. 5p.
Subjects
COVID-19, SARS-CoV-2, and REMDESIVIR
Abstract
Profoundly B-cell-depleted patients can have prolonged severe acute respiratory syndrome coronavirus 2 infections with evidence of active viral replication, due to inability to mount an adequate humoral response to clear the virus. We present 3 B-cell-depleted patients with prolonged coronavirus disease 2019 infection who were successfully treated with a combination of casirivimab/imdevimab and remdesivir. [ABSTRACT FROM AUTHOR]

61. Should we "just stick to the facts"? The benefit of controversial conversations in classrooms. [2022]

  • Kraatz, Elizabeth, von Spiegel, Jacqueline, Sayers, Robin, and Brady, Anna C.
  • Theory Into Practice. Summer2022, Vol. 61 Issue 3, p312-324. 13p. 1 Chart.
Subjects
TEACHERS, TEACHING of controversial topics, STUDENTS, DISCUSSION in education, and SOCIAL conditions of students
Abstract
Controversial topics may be uncomfortable for teachers to include in their in-class discussions. However, there are considerable cognitive and social-emotional benefits to engagement in controversial conversations, or classroom discussion about controversial topics. It is critical that teachers support students in respectful discussion to help them develop skills such as problem solving, critical thinking, and the ability to consider issues from multiple perspectives. These skills can enable students to meet larger educational goals such as engaged citizenship. The goal of this article is to highlight the benefits of controversial conversations in the classroom and describe teaching approaches that facilitate effective controversial conversations. First, we identify important factors for teachers' consideration in supporting effective and beneficial controversial conversations. Second, we provide examples of topics of conversations that may be appropriate for students of varying ages. Third, we review how the structure of conversation, scaffolding, classroom context, relationships, and students' individual differences can shape controversial conversations. [ABSTRACT FROM AUTHOR]

62. A novel air microfluidics-enabled soft robotic sleeve: Toward realizing innovative lymphedema treatment. [2022]

  • Gao RZ, Mai VNT, Levinski N, Kormylo JM, Murdock RW, Dickerson CR, and Ren CL
  • Biomicrofluidics [Biomicrofluidics] 2022 May 03; Vol. 16 (3), pp. 034101. Date of Electronic Publication: 2022 May 03 (Print Publication: 2022).
Abstract
A proof of concept of a novel air microfluidics-enabled soft robotic sleeve to enable lymphedema treatment is presented. Compression sleeves represent the current, suboptimal standard of care, and stationary pumps assist with lymph drainage; however, effective systems that are truly wearable while performing daily activities are very scarce. This problematic trade-off between performance and wearability requires a new solution, which is addressed by an innovative microfluidic device. Its novelty lies in the use of light, small, and inexpensive air microfluidic chips (35 × 20 × 5 mm 3 in size) that bring three major advantages compared to their traditional counterparts. First, each chip is designed with 16 fluidic channels with a cross-sectional area varying from 0.04 to 1 mm 2 , providing sequential inflation and uniform deflation capability to eight air bladders, thereby producing intentional gradient compression to the arm to facilitate lymph fluid circulation. The design is derived from the fundamentals of microfluidics, in particular, hydraulic resistance and paths of least resistance. Second, the air microfluidic chip enables miniaturization of at least eight bulky energy-consuming valves to two miniature solenoid valves for control increasing wearability. Third, the air microfluidic chip has no moving parts, which reduces the noise and energy needed. The cost, simplicity, and scale-up potential of developing methods for making the system are also detailed. The sequential inflation, uniform deflation, and pressure gradient are demonstrated, and the resulted compression and internal air bladder pressure were evaluated. This air microfluidics-enabled sleeve presents tremendous potential toward future improvements in self-care lymphedema management.
(© 2022 Author(s).)

63. Improved Antibody Response After a Fifth Dose of a SARS-CoV-2 Vaccine in Solid Organ Transplant Recipients: A Case Series. [2022]

  • Abedon AT, Teles MS, Alejo JL, Kim JD, Mitchell J, Chiang TPY, Avery RK, Tobian AAR, Levan ML, Warren DS, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 May 01; Vol. 106 (5), pp. e262-e263. Date of Electronic Publication: 2022 Feb 15.
Subjects
Antibodies, Viral, Antibody Formation, COVID-19 Vaccines, Humans, SARS-CoV-2, Transplant Recipients, COVID-19 prevention control, and Organ Transplantation adverse effects
Abstract
Competing Interests: D.L.S. received consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, Thermo Fisher Scientific, Regeneron, and AstraZeneca. M.L.L. is the Social Media Editor for Transplantation. R.K.A. has grant/research support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, and Takeda/Shire. The other authors declare no conflicts of interest.

64. Humoral and Cellular Immune Response to a Third Dose of SARS-CoV-2 Vaccine in Kidney Transplant Recipients Taking Belatacept. [2022]

  • Mitchell J, Kim J, Alejo JL, Chiang TP, Karaba AH, Blankson JN, Aytenfisu TY, Chang A, Abedon AT, Avery RK, Tobian AA, Massie AB, Levan ML, Warren DS, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 May 01; Vol. 106 (5), pp. e264-e265. Date of Electronic Publication: 2022 Mar 14.
Subjects
Abatacept therapeutic use, Antibodies, Viral, COVID-19 Vaccines, Humans, Immunity, Cellular, SARS-CoV-2, Transplant Recipients, COVID-19 prevention control, and Kidney Transplantation adverse effects
Abstract
Competing Interests: D.L.S. has received consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, Thermo Fisher Scientific, Regeneron, and Astra Zeneca. A.H.K. has received consulting fees from Roche. R.K.A. has study/grant support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, Regeneron, Takeda/Shire, and Vir/GSK and is an Associate Reviewer for Transplantation. M.L.L. is the Social Media Editor for Transplantation. The other authors declare no conflicts of interest.

65. Effect of Mycophenolate Mofetil Dosing on Antibody Response to SARS-CoV-2 Vaccination in Heart and Lung Transplant Recipients. [2022]

  • Mitchell J, Chiang TP, Alejo JL, Chang A, Abedon AT, Avery RK, Tobian AAR, Massie AB, Levan ML, Warren DS, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 May 01; Vol. 106 (5), pp. e269-e270. Date of Electronic Publication: 2022 Mar 03.
Subjects
Antibodies, Viral, Antibody Formation, COVID-19 Vaccines, Humans, Immunosuppressive Agents adverse effects, Lung, Mycophenolic Acid, SARS-CoV-2, Vaccination, COVID-19 prevention control, and Transplant Recipients
Abstract
Competing Interests: D.L.S. received consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, and Thermo Fisher Scientific. R.K.A. has study/grant support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, Regeneron, Takeda/Shire, and Vir/GSK, and he is an associate editor for Transplantation. M.L.L. is the Social Media Editor for Transplantation. The other authors declare no conflicts of interest.

66. Six-month Antibody Kinetics and Durability After 3 Doses of SARS-CoV-2 Vaccine in Solid Organ Transplant Recipients: A Case Series. [2022]

  • Abedon AT, Alejo JL, Kim JD, Thomas L, Mitchell J, Chiang TPY, Avery RK, Tobian AAR, Levan ML, Warren DS, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 May 01; Vol. 106 (5), pp. e281-e283. Date of Electronic Publication: 2022 Jan 19.
Subjects
Antibodies, Viral, COVID-19 Vaccines, Humans, Kinetics, SARS-CoV-2, Transplant Recipients, COVID-19 prevention control, and Organ Transplantation adverse effects
Abstract
Competing Interests: D.L.S. has received consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, Thermo Fisher Scientific, Regeneron, and Astra Zeneca. R.K.A. has study/grant support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, Regeneron, Takeda/Shire, and Vir/GSK and is an Associate Reviewer for Transplantation. M.L.L. is the Social Media Editor for Transplantation. The other authors declare no conflicts of interest.

67. Dental management of a pediatric patient with Kohlschutter-Tonz syndrome: A case report. [2022]

  • Kulkarni R, Caster JM, Robin A, Hajishengallis E, Stoopler ET, and Tanaka TI
  • Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2022 May; Vol. 42 (3), pp. 308-311. Date of Electronic Publication: 2021 Nov 12.
Subjects
Child, Dementia, Dental Care, Humans, Amelogenesis Imperfecta therapy, Epilepsy, and Intellectual Disability
Abstract
Introduction: Kohlschutter-Tonz syndrome (KTS) is a rare, genetic condition, which typically manifests as a triad of symptoms: 1) amelogenesis imperfecta, 2) infantile onset epilepsy, and 3) intellectual disability. The condition poses dental treatment challenges given the manifestation of amelogenesis imperfecta. Additional considerations are needed to medically manage these patients who present with epilepsy and intellectual disability.
Case Report: Our patient presented with multiple restorative needs, was treated under general anesthesia, and maintained good oral outcomes with close follow-up.
Discussion: To the best of our knowledge, this is the first case report which documents comprehensive dental management of a pediatric patient with KTS.
(© 2021 Special Care Dentistry Association and Wiley Periodicals LLC.)

68. Implementing Gentle Persuasive Approaches dementia education for staff on in-patient medicine units: A program evaluation. [2022]

  • Crandall J, Coatsworth-Puspoky R, Schlegel K, Beker L, McLelland VC, and Martin LS
  • Dementia (London, England) [Dementia (London)] 2022 May; Vol. 21 (4), pp. 1173-1199. Date of Electronic Publication: 2022 Jan 26.
Subjects
Aged, Canada, Hospitals, Humans, Program Evaluation, Dementia therapy, and Education, Distance
Abstract
Older adults with dementia, when hospitalised, frequently experience responsive behaviours. Staff struggle to manage responsive behaviours without specific education. We aimed to enhance staff knowledge and confidence with care for older adults with dementia and responsive behaviours on medicine units at a Canadian hospital. An online dementia education program was disseminated to staff as part of a broader quality improvement project. Gentle Persuasive Approaches (GPA) encourages staff to reframe responsive behaviours as self-protective expressions of unmet needs and learn to assess their meaning. Participants completed online quantitative and qualitative measures of self-efficacy, competence and knowledge in dementia care at three times: immediate pre-, immediate post- and six to eight weeks post-GPA eLearning. Immediately post-GPA, participants showed significant increases relative to baseline in dementia care self-efficacy, competence and knowledge. Self-efficacy scores increased further eight weeks post-GPA. Before GPA, few participants described dementia-specific strategies for de-escalating a patient's agitation. Eight weeks post-GPA, participants described application of tailored, person-centred, non-pharmacological interventions and successful application of GPA strategies. GPA eLearning strengthened staff preparedness to interact with older adults experiencing responsive behaviours, thus enhancing their care.

69. Disseminated Intravascular Coagulation in Varying Age Groups Based on Clinical Conditions. [2022]

  • Geyer-Roberts E, Akhand T, Blanco A, Jose R, Chowdhury N, Ea M, Gutierrez E, Balbuena J, Anagnostis S, Henderson C, Fazio A, Burpee A, and Jacobs RJ
  • Cureus [Cureus] 2022 Apr 21; Vol. 14 (4), pp. e24362. Date of Electronic Publication: 2022 Apr 21 (Print Publication: 2022).
Abstract
Disseminated intravascular coagulation (DIC) is a serious syndrome characterized by the systemic activation of blood coagulation resulting in the thrombosis of vessels leading to organ dysfunction and severe bleeding. When physicians try to treat DIC, it is imperative to diagnose and treat the underlying conditions. Anyone can be affected by DIC, but vulnerable groups such as pediatric populations, pregnant women and the elderly may be at higher risk. In this review, the current literature on DIC in pregnancy, the pediatric population, and the elderly is reported. This review also highlights the similarities and differences in the etiology, clinical presentation, diagnosis, and management of DIC in the aforementioned groups (i.e., pediatrics, pregnant women, and the elderly). Findings from this study may help increase awareness about various presentations of DIC in these groups to facilitate rapid recognition of symptoms leading to correct diagnoses.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2022, Geyer-Roberts et al.)

70. Infectious diseases, comorbidities and outcomes in hospitalized people who inject drugs (PWID) infections in persons who inject drugs. [2022]

  • Lim J, Pavalagantharajah S, Verschoor CP, Lentz E, Loeb M, Levine M, Smieja M, Mbuagbaw L, Kalina D, Tarride JE, O'Shea T, Cvetkovic A, van Gaalen S, Findlater AR, Lennox R, Bassim C, Lokker C, and Alvarez E
  • PloS one [PLoS One] 2022 Apr 20; Vol. 17 (4), pp. e0266663. Date of Electronic Publication: 2022 Apr 20 (Print Publication: 2022).
Subjects
Hospitalization, Humans, Communicable Diseases complications, Communicable Diseases epidemiology, Drug Users, Endocarditis complications, Substance Abuse, Intravenous complications, and Substance Abuse, Intravenous epidemiology
Abstract
Injection drug use poses a public health challenge. Clinical experience indicates that people who inject drugs (PWID) are hospitalized frequently for infectious diseases, but little is known about outcomes when admitted. Charts were identified from local hospitals between 2013-2018 using consultation lists and hospital record searches. Included individuals injected drugs in the past six months and presented with infection. Charts were accessed using the hospital information system, undergoing primary and secondary reviews using Research Electronic Data Capture (REDCap). The Wilcoxon rank-sum test was used for comparisons between outcome categories. Categorical data were summarized as count and frequency, and compared using Fisher's exact test. Of 240 individuals, 33% were admitted to the intensive care unit, 36% underwent surgery, 12% left against medical advice (AMA), and 9% died. Infectious diagnoses included bacteremia (31%), abscess (29%), endocarditis (29%), cellulitis (20%), sepsis (10%), osteomyelitis (9%), septic arthritis (8%), pneumonia (7%), discitis (2%), meningitis/encephalitis (2%), or other (7%). Sixty-six percent had stable housing and 60% had a family physician. Fifty-four percent of patient-initiated discharges were seen in the emergency department within 30 days and 29% were readmitted. PWID are at risk for infections. Understanding their healthcare trajectory is essential to improve their care.
Competing Interests: The authors have declared that no competing interests exist.

71. How to evaluate cardiomyopathies by cardiovascular magnetic resonance parametric mapping and late gadolinium enhancement. [2022]

  • Menghoum N, Vos JL, Pouleur AC, Nijveldt R, and Gerber BL
  • European heart journal. Cardiovascular Imaging [Eur Heart J Cardiovasc Imaging] 2022 Apr 18; Vol. 23 (5), pp. 587-589.
Subjects
Contrast Media, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Myocardium pathology, Predictive Value of Tests, Cardiomyopathies diagnostic imaging, Cardiomyopathies pathology, and Gadolinium

72. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. [2022]

  • Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, Gopal S, Gratten J, Green MF, Greenwood TA, Guillin O, Gülöksüz S, Gur RE, Gur RC, Gutiérrez B, Hahn E, Hakonarson H, Haroutunian V, Hartmann AM, Harvey C, Hayward C, Henskens FA, Herms S, Hoffmann P, Howrigan DP, Ikeda M, Iyegbe C, Joa I, Julià A, Kähler AK, Kam-Thong T, Kamatani Y, Karachanak-Yankova S, Kebir O, Keller MC, Kelly BJ, Khrunin A, Kim SW, Klovins J, Kondratiev N, Konte B, Kraft J, Kubo M, Kučinskas V, Kučinskiene ZA, Kusumawardhani A, Kuzelova-Ptackova H, Landi S, Lazzeroni LC, Lee PH, Legge SE, Lehrer DS, Lencer R, Lerer B, Li M, Lieberman J, Light GA, Limborska S, Liu CM, Lönnqvist J, Loughland CM, Lubinski J, Luykx JJ, Lynham A, Macek M Jr, Mackinnon A, Magnusson PKE, Maher BS, Maier W, Malaspina D, Mallet J, Marder SR, Marsal S, Martin AR, Martorell L, Mattheisen M, McCarley RW, McDonald C, McGrath JJ, Medeiros H, Meier S, Melegh B, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mitjans M, Molden E, Molina E, Molto MD, Mondelli V, Moreno C, Morley CP, Muntané G, Murphy KC, Myin-Germeys I, Nenadić I, Nestadt G, Nikitina-Zake L, Noto C, Nuechterlein KH, O'Brien NL, O'Neill FA, Oh SY, Olincy A, Ota VK, Pantelis C, Papadimitriou GN, Parellada M, Paunio T, Pellegrino R, Periyasamy S, Perkins DO, Pfuhlmann B, Pietiläinen O, Pimm J, Porteous D, Powell J, Quattrone D, Quested D, Radant AD, Rampino A, Rapaport MH, Rautanen A, Reichenberg A, Roe C, Roffman JL, Roth J, Rothermundt M, Rutten BPF, Saker-Delye S, Salomaa V, Sanjuan J, Santoro ML, Savitz A, Schall U, Scott RJ, Seidman LJ, Sharp SI, Shi J, Siever LJ, Sigurdsson E, Sim K, Skarabis N, Slominsky P, So HC, Sobell JL, Söderman E, Stain HJ, Steen NE, Steixner-Kumar AA, Stögmann E, Stone WS, Straub RE, Streit F, Strengman E, Stroup TS, Subramaniam M, Sugar CA, Suvisaari J, Svrakic DM, Swerdlow NR, Szatkiewicz JP, Ta TMT, Takahashi A, Terao C, Thibaut F, Toncheva D, Tooney PA, Torretta S, Tosato S, Tura GB, Turetsky BI, Üçok A, Vaaler A, van Amelsvoort T, van Winkel R, Veijola J, Waddington J, Walter H, Waterreus A, Webb BT, Weiser M, Williams NM, Witt SH, Wormley BK, Wu JQ, Xu Z, Yolken R, Zai CC, Zhou W, Zhu F, Zimprich F, Atbaşoğlu EC, Ayub M, Benner C, Bertolino A, Black DW, Bray NJ, Breen G, Buccola NG, Byerley WF, Chen WJ, Cloninger CR, Crespo-Facorro B, Donohoe G, Freedman R, Galletly C, Gandal MJ, Gennarelli M, Hougaard DM, Hwu HG, Jablensky AV, McCarroll SA, Moran JL, Mors O, Mortensen PB, Müller-Myhsok B, Neil AL, Nordentoft M, Pato MT, Petryshen TL, Pirinen M, Pulver AE, Schulze TG, Silverman JM, Smoller JW, Stahl EA, Tsuang DW, Vilella E, Wang SH, Xu S, Adolfsson R, Arango C, Baune BT, Belangero SI, Børglum AD, Braff D, Bramon E, Buxbaum JD, Campion D, Cervilla JA, Cichon S, Collier DA, Corvin A, Curtis D, Forti MD, Domenici E, Ehrenreich H, Escott-Price V, Esko T, Fanous AH, Gareeva A, Gawlik M, Gejman PV, Gill M, Glatt SJ, Golimbet V, Hong KS, Hultman CM, Hyman SE, Iwata N, Jönsson EG, Kahn RS, Kennedy JL, Khusnutdinova E, Kirov G, Knowles JA, Krebs MO, Laurent-Levinson C, Lee J, Lencz T, Levinson DF, Li QS, Liu J, Malhotra AK, Malhotra D, McIntosh A, McQuillin A, Menezes PR, Morgan VA, Morris DW, Mowry BJ, Murray RM, Nimgaonkar V, Nöthen MM, Ophoff RA, Paciga SA, Palotie A, Pato CN, Qin S, Rietschel M, Riley BP, Rivera M, Rujescu D, Saka MC, Sanders AR, Schwab SG, Serretti A, Sham PC, Shi Y, St Clair D, Stefánsson H, Stefansson K, Tsuang MT, van Os J, Vawter MP, Weinberger DR, Werge T, Wildenauer DB, Yu X, Yue W, Holmans PA, Pocklington AJ, Roussos P, Vassos E, Verhage M, Visscher PM, Yang J, Posthuma D, Andreassen OA, Kendler KS, Owen MJ, Wray NR, Daly MJ, Huang H, Neale BM, Sullivan PF, Ripke S, Walters JTR, and O'Donovan MC
  • Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 502-508. Date of Electronic Publication: 2022 Apr 08.
Subjects
Alleles, Genetic Predisposition to Disease genetics, Genomics, Humans, Polymorphism, Single Nucleotide genetics, Genome-Wide Association Study, and Schizophrenia genetics
Abstract
Schizophrenia has a heritability of 60-80% 1 , much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies.
(© 2022. The Author(s), under exclusive licence to Springer Nature Limited.)

73. Genetic variants associated with longitudinal changes in brain structure across the lifespan. [2022]

  • Brouwer RM, Klein M, Grasby KL, Schnack HG, Jahanshad N, Teeuw J, Thomopoulos SI, Sprooten E, Franz CE, Gogtay N, Kremen WS, Panizzon MS, Olde Loohuis LM, Whelan CD, Aghajani M, Alloza C, Alnæs D, Artiges E, Ayesa-Arriola R, Barker GJ, Bastin ME, Blok E, Bøen E, Breukelaar IA, Bright JK, Buimer EEL, Bülow R, Cannon DM, Ciufolini S, Crossley NA, Damatac CG, Dazzan P, de Mol CL, de Zwarte SMC, Desrivières S, Díaz-Caneja CM, Doan NT, Dohm K, Fröhner JH, Goltermann J, Grigis A, Grotegerd D, Han LKM, Harris MA, Hartman CA, Heany SJ, Heindel W, Heslenfeld DJ, Hohmann S, Ittermann B, Jansen PR, Janssen J, Jia T, Jiang J, Jockwitz C, Karali T, Keeser D, Koevoets MGJC, Lenroot RK, Malchow B, Mandl RCW, Medel V, Meinert S, Morgan CA, Mühleisen TW, Nabulsi L, Opel N, de la Foz VO, Overs BJ, Paillère Martinot ML, Redlich R, Marques TR, Repple J, Roberts G, Roshchupkin GV, Setiaman N, Shumskaya E, Stein F, Sudre G, Takahashi S, Thalamuthu A, Tordesillas-Gutiérrez D, van der Lugt A, van Haren NEM, Wardlaw JM, Wen W, Westeneng HJ, Wittfeld K, Zhu AH, Zugman A, Armstrong NJ, Bonfiglio G, Bralten J, Dalvie S, Davies G, Di Forti M, Ding L, Donohoe G, Forstner AJ, Gonzalez-Peñas J, Guimaraes JPOFT, Homuth G, Hottenga JJ, Knol MJ, Kwok JBJ, Le Hellard S, Mather KA, Milaneschi Y, Morris DW, Nöthen MM, Papiol S, Rietschel M, Santoro ML, Steen VM, Stein JL, Streit F, Tankard RM, Teumer A, van 't Ent D, van der Meer D, van Eijk KR, Vassos E, Vázquez-Bourgon J, Witt SH, Adams HHH, Agartz I, Ames D, Amunts K, Andreassen OA, Arango C, Banaschewski T, Baune BT, Belangero SI, Bokde ALW, Boomsma DI, Bressan RA, Brodaty H, Buitelaar JK, Cahn W, Caspers S, Cichon S, Crespo-Facorro B, Cox SR, Dannlowski U, Elvsåshagen T, Espeseth T, Falkai PG, Fisher SE, Flor H, Fullerton JM, Garavan H, Gowland PA, Grabe HJ, Hahn T, Heinz A, Hillegers M, Hoare J, Hoekstra PJ, Ikram MA, Jackowski AP, Jansen A, Jönsson EG, Kahn RS, Kircher T, Korgaonkar MS, Krug A, Lemaitre H, Malt UF, Martinot JL, McDonald C, Mitchell PB, Muetzel RL, Murray RM, Nees F, Nenadić I, Oosterlaan J, Ophoff RA, Pan PM, Penninx BWJH, Poustka L, Sachdev PS, Salum GA, Schofield PR, Schumann G, Shaw P, Sim K, Smolka MN, Stein DJ, Trollor JN, van den Berg LH, Veldink JH, Walter H, Westlye LT, Whelan R, White T, Wright MJ, Medland SE, Franke B, Thompson PM, and Hulshoff Pol HE
  • Nature neuroscience [Nat Neurosci] 2022 Apr; Vol. 25 (4), pp. 421-432. Date of Electronic Publication: 2022 Apr 05.
Subjects
Aging genetics, Brain, Humans, Magnetic Resonance Imaging, Genome-Wide Association Study, and Longevity genetics
Abstract
Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases. In this study, we identified common genetic variants that affect rates of brain growth or atrophy in what is, to our knowledge, the first genome-wide association meta-analysis of changes in brain morphology across the lifespan. Longitudinal magnetic resonance imaging data from 15,640 individuals were used to compute rates of change for 15 brain structures. The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes. We demonstrate global genetic overlap with depression, schizophrenia, cognitive functioning, insomnia, height, body mass index and smoking. Gene set findings implicate both early brain development and neurodegenerative processes in the rates of brain changes. Identifying variants involved in structural brain changes may help to determine biological pathways underlying optimal and dysfunctional brain development and aging.
(© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.)

74. The Prognostic Value of Right Atrial and Right Ventricular Functional Parameters in Systemic Sclerosis. [2022]

  • Vos JL, Butcher SC, Fortuni F, Galloo X, Rodwell L, Vonk MC, Bax JJ, van Leuven SI, de Vries-Bouwstra JK, Snoeren M, El Messaoudi S, Marsan NA, and Nijveldt R
  • Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2022 Mar 17; Vol. 9, pp. 845359. Date of Electronic Publication: 2022 Mar 17 (Print Publication: 2022).
Abstract
Introduction: Right ventricular (RV) function is of particular importance in systemic sclerosis (SSc), since common SSc complications, such as interstitial lung disease and pulmonary hypertension may affect RV afterload. Cardiovascular magnetic resonance (CMR) is the gold standard for measuring RV function. CMR-derived RV and right atrial (RA) strain is a promising tool to detect subtle changes in RV function, and might have incremental value, however, prognostic data is lacking. Therefore, the aim of this study was to evaluate the prognostic value of RA and RV strain in SSc.
Methods: In this retrospective study, performed at two Dutch hospitals, consecutive SSc patients who underwent CMR were included. RV longitudinal strain (LS) and RA strain were measured. Unadjusted cox proportional hazard regression analysis and likelihood ratio tests were used to evaluate the association and incremental value of strain parameters with all-cause mortality.
Results: A total of 100 patients (median age 54 [46-64] years, 42% male) were included. Twenty-four patients (24%) died during a follow-up of 3.1 [1.8-5.2] years. RA reservoir [Hazard Ratio (HR) = 0.95, 95% CI 0.91-0.99, p = 0.009] and conduit strain (HR = 0.93, 95% CI 0.88-0.98, p = 0.008) were univariable predictors of all-cause mortality, while RV LS and RA booster strain were not. RA conduit strain proved to be of incremental value to sex, atrial fibrillation, NYHA class, RA maximum volume indexed, and late gadolinium enhancement ( p < 0.05 for all).
Conclusion: RA reservoir and conduit strain are predictors of all-cause mortality in SSc patients, whereas RV LS is not. In addition, RA conduit strain showed incremental prognostic value to all evaluated clinical and imaging parameters. Therefore, RA conduit strain may be a useful prognostic marker in SSc patients.
Competing Interests: JV-B received consulting fees from AbbVie, Janssen, and Boehringer Ingelheim, and research grants from Roche, Galapagos, and Janssen. MV received research grants from Boehringer Ingelheim, Ferrer, Galapagos, and Janssen, and consulting fees of Boehringer Ingelheim, Corbus, and Janssen. NM received speaker fees from GE Healthcare and Abbott Vascular, and also participated in the Medical Advisory Board of Philips Ultrasound. RN received research grants from Biotronik and Philips, and consulting fees of Sanofi Genzyme and Bayer. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2022 Vos, Butcher, Fortuni, Galloo, Rodwell, Vonk, Bax, van Leuven, de Vries-Bouwstra, Snoeren, El Messaoudi, Marsan and Nijveldt.)

75. RNA-seq analysis of gene expression profiles in posttraumatic stress disorder, Parkinson's disease and schizophrenia identifies roles for common and distinct biological pathways. [2022]

  • Hemmings SMJ, Swart P, Womersely JS, Ovenden ES, van den Heuvel LL, McGregor NW, Meier S, Bardien S, Abrahams S, Tromp G, Emsley R, Carr J, and Seedat S
  • Discover mental health [Discov Ment Health] 2022 Mar 03; Vol. 2 (1), pp. 6. Date of Electronic Publication: 2022 Mar 03.
Abstract
Evidence suggests that shared pathophysiological mechanisms in neuropsychiatric disorders (NPDs) may contribute to risk and resilience. We used single-gene and network-level transcriptomic approaches to investigate shared and disorder-specific processes underlying posttraumatic stress disorder (PTSD), Parkinson's disease (PD) and schizophrenia in a South African sample. RNA-seq was performed on blood obtained from cases and controls from each cohort. Gene expression and weighted gene correlation network analyses (WGCNA) were performed using DESeq2 and CEMiTool, respectively. Significant differences in gene expression were limited to the PTSD cohort. However, WGCNA implicated, amongst others, ribosomal expression, inflammation and ubiquitination as key players in the NPDs under investigation. Differential expression in ribosomal-related pathways was observed in the PTSD and PD cohorts, and focal adhesion and extracellular matrix pathways were implicated in PD and schizophrenia. We propose that, despite different phenotypic presentations, core transdiagnostic mechanisms may play important roles in the molecular aetiology of NPDs.
(© 2022. The Author(s).)

76. High Levels of Sedentary Time in Patients with COVID-19 after Hospitalisation. [2022]

  • van Bakel BMA, van den Heuvel FMA, Vos JL, Rotbi H, Bakker EA, Nijveldt R, Thijssen DHJ, and Eijsvogels TMH
  • Journal of clinical medicine [J Clin Med] 2022 Feb 19; Vol. 11 (4). Date of Electronic Publication: 2022 Feb 19.
Abstract
Many patients with COVID-19 experience severe and even fatal disease. Survivors may have long-term health consequences, but data on physical activity and sedentary behaviour are scarce. Therefore, we objectively assessed physical activity (PA) patterns among post-hospitalised patients with COVID-19 and explored associations with patient characteristics, disease severity and cardiac dysfunction. We objectively assessed PA, sedentary behaviour and sleep duration for 24 h/day during 8 days at 3-6 months after COVID-19 hospitalisation. PA and sedentary time were compared across pre-defined subgroups based on patient and disease characteristics, cardiac biomarker release during hospitalisation, abnormal transthoracic echocardiogram at 3-6 months post-hospitalisation and persistence of symptoms post-discharge. PA and sedentary behaviour were assessed in 37 patients (60 ± 10 years old; 78% male). Patients spent 4.2 [3.2; 5.3] h/day light-intensity PA and 1.0 [0.8; 1.4] h/day moderate-to-vigorous intensity PA. Time spent sitting was 9.8 [8.7; 11.2] h/day, which was accumulated in 6 [5; 7] prolonged sitting bouts (≥30 min) and 41 [32; 48] short sitting bouts (<30 min). No differences in PA and sedentary behaviour were found across subgroups, but sleep duration was higher in patients with versus without persistent symptoms (9.1 vs. 8.3 h/day, p = 0.02). Taken together, high levels of sedentary time are common at 3-6 months after COVID-19 hospitalisation, whilst PA and sedentary behaviour are not impacted by patient or disease characteristics.

77. Antibody Response to an mRNA SARS-CoV-2 Vaccine Following Initial Vaccination With Ad.26.COV2.S in Solid Organ Transplant Recipients: A Case Series. [2022]

  • Chang A, Alejo JL, Abedon AT, Mitchell J, Chiang TP, Boyarsky BJ, Avery RK, Tobian AAR, Levan ML, Warren DS, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 Feb 01; Vol. 106 (2), pp. e161-e162.
Subjects
Adult, Aged, Female, Humans, Male, Middle Aged, RNA, Messenger genetics, SARS-CoV-2 genetics, SARS-CoV-2 isolation purification, Vaccination adverse effects, Antibody Formation, COVID-19 prevention control, COVID-19 Vaccines administration dosage, Organ Transplantation adverse effects, and Transplant Recipients
Abstract
Competing Interests: Dr Segev has the following financial disclosures: consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, and Thermo Fisher Scientific. Dr Avery has study/grant support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, Regeneron, Takeda/Shire, and Vir/GSK, and is an associate editor for Transplantation. Dr Levan is the Social Media Editor for Transplantation. The other authors declare no conflicts of interest.

78. Advancing social inclusion of people with disabilities through awareness and training activities: A collaborative process between community partners and researchers. [2022]

  • Rochette A, Roberge-Dao J, Roche L, Kehayia E, Ménard L, Robin JP, Sauvé M, Shikako-Thomas K, St-Onge M, Swaine B, Thomas A, Vallée-Dumas C, and Fougeyrollas P
  • Patient education and counseling [Patient Educ Couns] 2022 Feb; Vol. 105 (2), pp. 416-425. Date of Electronic Publication: 2021 May 23.
Subjects
Canada, Humans, Quebec, Research Personnel, Disabled Persons, and Social Inclusion
Abstract
Objective: The main objectives were to 1) search and map current disability awareness and training activities in Quebec, Canada, 2) collectively reflect on these practices, and 3) develop a five-year strategic plan.
Methods: We used an integrated knowledge translation approach whereby researchers and community partners were involved in all stages. This project consisted of two sequential phases: 1) an environmental scan (web review and interview) of current practices, and 2) a reflection process with an external expert-facilitator in social transformation. Outcome results and process data are reported.
Results: We identified 129 activities (71 training, 58 awareness) from 39 organizations (from 123 organizations initially invited). A wide range of characteristics were collected for each activity which allowed for the identification of gaps. The working group met seven times in one year to discuss results from phase 1 and co-create a five-year strategic plan. Main priorities are 1) the development of a methodology for measuring collective impact and 2) content synchronization of activities.
Conclusion: Involvement of partners and researchers enabled a concerted and efficient approach to the development of a five-year strategic plan.
Practice Implications: A transition committee led by partners will ensure implementation and sustainability of the plan across the province.
(Copyright © 2021 Elsevier B.V. All rights reserved.)

79. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. [2022]

  • Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, and Ottini L
  • Journal of the National Cancer Institute [J Natl Cancer Inst] 2022 Jan 11; Vol. 114 (1), pp. 109-122.
Subjects
Aged, 80 and over, BRCA1 Protein genetics, BRCA2 Protein genetics, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Mutation, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Breast Neoplasms epidemiology, Breast Neoplasms genetics, Prostatic Neoplasms epidemiology, and Prostatic Neoplasms genetics
Abstract
Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.
Methods: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.
Results: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.
Conclusions: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
(© The Author(s) 2021. Published by Oxford University Press.)

80. Large-scale migration into Britain during the Middle to Late Bronze Age. [2022]

  • Patterson N, Isakov M, Booth T, Büster L, Fischer CE, Olalde I, Ringbauer H, Akbari A, Cheronet O, Bleasdale M, Adamski N, Altena E, Bernardos R, Brace S, Broomandkhoshbacht N, Callan K, Candilio F, Culleton B, Curtis E, Demetz L, Carlson KSD, Edwards CJ, Fernandes DM, Foody MGB, Freilich S, Goodchild H, Kearns A, Lawson AM, Lazaridis I, Mah M, Mallick S, Mandl K, Micco A, Michel M, Morante GB, Oppenheimer J, Özdoğan KT, Qiu L, Schattke C, Stewardson K, Workman JN, Zalzala F, Zhang Z, Agustí B, Allen T, Almássy K, Amkreutz L, Ash A, Baillif-Ducros C, Barclay A, Bartosiewicz L, Baxter K, Bernert Z, Blažek J, Bodružić M, Boissinot P, Bonsall C, Bradley P, Brittain M, Brookes A, Brown F, Brown L, Brunning R, Budd C, Burmaz J, Canet S, Carnicero-Cáceres S, Čaušević-Bully M, Chamberlain A, Chauvin S, Clough S, Čondić N, Coppa A, Craig O, Črešnar M, Cummings V, Czifra S, Danielisová A, Daniels R, Davies A, de Jersey P, Deacon J, Deminger C, Ditchfield PW, Dizdar M, Dobeš M, Dobisíková M, Domboróczki L, Drinkall G, Đukić A, Ernée M, Evans C, Evans J, Fernández-Götz M, Filipović S, Fitzpatrick A, Fokkens H, Fowler C, Fox A, Gallina Z, Gamble M, González Morales MR, González-Rabanal B, Green A, Gyenesei K, Habermehl D, Hajdu T, Hamilton D, Harris J, Hayden C, Hendriks J, Hernu B, Hey G, Horňák M, Ilon G, Istvánovits E, Jones AM, Kavur MB, Kazek K, Kenyon RA, Khreisheh A, Kiss V, Kleijne J, Knight M, Kootker LM, Kovács PF, Kozubová A, Kulcsár G, Kulcsár V, Le Pennec C, Legge M, Leivers M, Loe L, López-Costas O, Lord T, Los D, Lyall J, Marín-Arroyo AB, Mason P, Matošević D, Maxted A, McIntyre L, McKinley J, McSweeney K, Meijlink B, Mende BG, Menđušić M, Metlička M, Meyer S, Mihovilić K, Milasinovic L, Minnitt S, Moore J, Morley G, Mullan G, Musilová M, Neil B, Nicholls R, Novak M, Pala M, Papworth M, Paresys C, Patten R, Perkić D, Pesti K, Petit A, Petriščáková K, Pichon C, Pickard C, Pilling Z, Price TD, Radović S, Redfern R, Resutík B, Rhodes DT, Richards MB, Roberts A, Roefstra J, Sankot P, Šefčáková A, Sheridan A, Skae S, Šmolíková M, Somogyi K, Somogyvári Á, Stephens M, Szabó G, Szécsényi-Nagy A, Szeniczey T, Tabor J, Tankó K, Maria CT, Terry R, Teržan B, Teschler-Nicola M, Torres-Martínez JF, Trapp J, Turle R, Ujvári F, van der Heiden M, Veleminsky P, Veselka B, Vytlačil Z, Waddington C, Ware P, Wilkinson P, Wilson L, Wiseman R, Young E, Zaninović J, Žitňan A, Lalueza-Fox C, de Knijff P, Barnes I, Halkon P, Thomas MG, Kennett DJ, Cunliffe B, Lillie M, Rohland N, Pinhasi R, Armit I, and Reich D
  • Nature [Nature] 2022 Jan; Vol. 601 (7894), pp. 588-594. Date of Electronic Publication: 2021 Dec 22.
Subjects
Europe, France, Genome, Human genetics, Human Migration history, Humans, Infant, United Kingdom, Archaeology, and Farmers
Abstract
Present-day people from England and Wales have more ancestry derived from early European farmers (EEF) than did people of the Early Bronze Age 1 . To understand this, here we generated genome-wide data from 793 individuals, increasing data from the Middle to the Late Bronze Age and Iron Age in Britain by 12-fold, and western and central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of people of England and Wales from the Iron Age, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to the Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange 2-6 . There was comparatively less gene flow from continental Europe during the Iron Age, and the independent genetic trajectory in Britain is also reflected in the rise of the allele conferring lactase persistence to approximately 50% by this time compared to approximately 7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period.
(© 2021. The Author(s), under exclusive licence to Springer Nature Limited.)

81. Six-month Antibody Kinetics and Durability in SARS-CoV-2 mRNA Vaccinated Solid Organ Transplant Recipients. [2022]

  • Alejo JL, Mitchell J, Chiang TP, Abedon AT, Sidoti CN, Boyarsky BJ, Avery RK, Tobian AAR, Levan ML, Warren DS, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2022 Jan 01; Vol. 106 (1), pp. e109-e110.
Subjects
Humans, Kinetics, Vaccines, Synthetic immunology, mRNA Vaccines immunology, Antibodies, Viral blood, COVID-19 prevention control, COVID-19 Vaccines immunology, and Organ Transplantation
Abstract
Competing Interests: D.L.S. received consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, and Thermo Fisher Scientific. M.L.L. is the Social Media Editor for Transplantation. R.K.A. has grant/research support from Aicuris, Astellas, Chimerix, Merck, Oxford Immunotec, Qiagen, and Takeda/Shire. The other authors declare no conflicts of interest.

82. Emergency department occupancy is useful as a simple real-time measure of crowding. [2022]

  • Clouston R, Atkinson P, Canales DD, Fraser J, Sohi D, Lee S, and Howlett M
  • CJEM [CJEM] 2022 Jan; Vol. 24 (1), pp. 23-26. Date of Electronic Publication: 2021 Mar 21.
Subjects
Canada, Data Collection, Humans, ROC Curve, Crowding, and Emergency Service, Hospital
Abstract
Introduction: Emergency department (ED) crowding compromises patient outcomes. Existing crowding measures are complex and difficult to use in real-time. This study evaluated readily available single flow variables as crowding measures.
Methods: Over 2 weeks in a tertiary Canadian ED, we recorded the following potential crowding measures during 168 consecutive two-hour study intervals: total ED patients (census), patients in beds, patients in waiting rooms, patients in treatment areas awaiting MD assessment; number of inpatients boarding, and ED occupancy. We also calculated four complex crowding scores-NEDOCS, EDWIN, ICMED, and a local modification of NEDOCS. We performed ROC analyses to assess the predictive validity of these measures against a reference standard of physician perception of crowding.
Results: We gathered data for 144 (63.9%) of 168 study intervals. ED census correlated strongly with crowding (AUC = 0.82, 95% CI 0.76-0.89), as did ED occupancy (AUC = 0.75, 95% CI 0.66-0.83). Their performance was similar to NEDOCS (AUC = 0.80) and to the local modification of NEDOCS (AUC = 0.83).
Conclusion: ED occupancy as a single measure has similar predictive accuracy to complex crowding scores and is easily generalizable to diverse emergency departments. Real-time tracking of this simple indicator could be used to prompt investigation and implementation of crowding interventions.
(© 2021. The Author(s), under exclusive licence to Canadian Association of Emergency Physicians (CAEP)/ Association Canadienne de Médecine d'Urgence (ACMU).)

83. PART is part of SNAP‐MCI [2022]

  • Wisse, Laura EM, Xie, Long, Lyu, Xueying, Das, Sandhitsu R., de Flores, Robin, Lane, Jacqueline, Yushkevich, Paul A., Wolk, David A., and Initiative, Disease Neuroimaging
  • Alzheimer's & dementia. 18(6)

84. Drug therapy, imaging, and other aspects of clinical management change after Alzheimer's biomarker testing in routine practice: Findings from the IMPACT‐AD BC study [2022]

  • Yang, David, Best, John R., Chambers, Colleen, Feldman, Howard H., Pettersen, Jacqueline A, Henri‐Bhargava, Alexander, Lee, Philip E, Nygaard, Haakon B., Funnell, Clark R, Foti, Dean J, Hsiung, Ging‐Yuek Robin, and DeMarco, Mari L.
  • Alzheimer's & dementia. 18(6)

85. Public health response to a case of paralytic poliomyelitis in an unvaccinated person and detection of poliovirus in wastewater—New York, June–August 2022 [2022]

  • Link‐Gelles, Ruth, Lutterloh, Emily, Ruppert, Patricia Schnabel, Backenson, P. Bryon, St. George, Kirsten, Rosenberg, Eli S., Anderson, Bridget J., Fuschino, Meghan, Popowich, Michael, Punjabi, Chitra, Souto, Maria, McKay, Kevin, Rulli, Samuel, Insaf, Tabassum, Hill, Dustin, Kumar, Jessica, Gelman, Irina, Jorba, Jaume, Ng, Terry Fei Fan, Gerloff, Nancy, Masters, Nina B., Lopez, Adriana, Dooling, Kathleen, Stokley, Shannon, Kidd, Sarah, Oberste, M. Steven, Routh, Janell, Belgasmi, Hanen, Brister, Barrett, Bullows, James E., Burns, Cara C., Castro, Christina J., Cory, Janine, Dybdahl‐Sissoko, Naomi, Emery, Brian D., English, Randall, Frolov, Ann D., Getachew, Halle, Henderson, Elizabeth, Hess, Alexandra, Mason, Karen, Mercante, Jeffrey W., Miles, Stacey Jeffries, Liu, Hongmei, Marine, Rachel L., Momin, Nehalraza, Pang, Hong, Perry, Daniel, Rogers, Shannon L., Short, Brandon, Sun, Hong, Tobolowsky, Farrell, Yee, Eileen, Hughes, Scott, Hygiene, Mental, Omoregie, Enoma, Rosen, Jennifer B., Zucker, Jane R., Alazawi, Mohammed, Bauer, Ursula, Godinez, Alex, Hanson, Brianna, Heslin, Eugene, McDonald, James, Mita‐Mendoza, Neida K., Meldrum, Megan, Neigel, Dana, Suitor, Robin, Larsen, David A., Egan, Christina, Faraci, Nicola, Feumba, G. Stephanie, Gray, Todd, Lamson, Daryl, Laplante, Jennifer, McDonough, Kathleen, Migliore, Natalie, Moghe, Amruta, Ogbamikael, Simon, Plitnick, Jonathan, Ramani, Rama, Rickerman, Lindsey, Rist, Erik, Schoultz, Lynsey, Shudt, Matthew, Krauchuk, Julie, Medina, Eric, Lawler, Jacqueline, Boss, Heather, Barca, Emanuele, Ghazali, Dabish B., Goyal, Tarini, Marinelli, Sean J.P., Roberts, Jackson A., Russo, Grace B., Thakur, Kiran T., and Yang, Vivian Q.
  • American journal of transplantation. 22(10):2470-2474

86. Potential missed opportunities for antenatal corticosteroid exposure and outcomes among periviable births: Observational cohort study [2022]

  • Travers, Colm P., Hansen, Nellie I., Das, Abhik, Rysavy, Matthew A., Bell, Edward F., Ambalavanan, Namasivayam, Peralta‐Carcelen, Myriam, Tita, Alan T., Van Meurs, Krisa P., Carlo, Waldemar A., Polin, Richard A., Caplan, Michael S., Laptook, Abbott R., Keszler, Martin, Hensman, Angelita M., Knoll, Andrea M., Little, Emilee, Vieira, Elisa, Basso, Kristin M., Keller, Jennifer A., St Pierre, Lucille, Walsh, Michele C., Hibbs, Anna Maria, Fanaroff, Avroy A., Newman, Nancy S., Payne, Allison H., Truog, William E., Pallotto, Eugenia K., Kilbride, Howard W., Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Knutson, Allison, Parimi, Prabhu S., Gaetano, Lisa, Merhar, Stephanie L., Poindexter, Brenda B., Schibler, Kurt, Donovan, Edward F., Grisby, Cathy, Alexander, Barbara, Bridges, Kate, Fischer, Estelle E., Mincey, Holly L., Hessling, Jody, Jackson, Lenora, Kirker, Kristin, Muthig, Greg, Tepe, Stacey, Cotten, C. Michael, Goldberg, Ronald N., Finkle, Joanne, Auten, Kathy J., Fisher, Kimberley A., Laughon, Matthew M., Bose, Carl L., Bernhardt, Janice, Bose, Gennie, Clark, Cindy, Kicklighter, Stephen D., Rhodes‐Ryan, Ginger, White, Donna, Patel, Ravi M., Carlton, David P., Stoll, Barbara J., Hale, Ellen C., Loggins, Yvonne, Bottcher, Diane I., Mackie, Colleen, Bremer, Andrew A., Higgins, Rosemary D., Archer, Stephanie Wilson, Sokol, Gregory M., Herron, Dianne E., Joyce, Jeff, Miller, Lucy, Wilson, Leslie Dawn, Tyson, Jon E., Khan, Amir M., Kennedy, Kathleen A., Eason, Elizabeth, Stephens, Emily K., McDavid, Georgia E., Arldt‐McAlister, Julie, Burson, Katrina, Garcia, Carmen, Hall, Donna, Harris, Beverly Foley, Lis, Anna E., Martin, Karen, Martin, Sara C., Rodgers, Shawna, Simmons, Maegan C., Pierce Tate, Patti L., Sanchez, Pablo J., Nelin, Leif D., Jadcherla, Sudarshan R., Luzader, Patricia, Baugher, Hallie, Clark, Erna, Fortney, Christine A., Gutentag, Julie, Park, Courtney, Shadd, Julie C., Stein, Melanie, Grothause, Jennifer L., McCool, Jacqueline, Parikh, Nehal A., Yosseff‐Salameh, Lina, Gantz, Marie G., Bann, Carla M., Wallace, Dennis, Crawford, Margaret M., Gabrio, Jenna, Leblond, David, O'Donnell Auman, Jeanette, Petrie Huitema, Carolyn M., Zaterka‐Baxter, Kristin M., Chock, Valerie Y., Stevenson, David K., Ball, M. Bethany, Adams, Marian M., Ismail, Magdy, Palmquist, Andrew W., Proud, Melinda S., Reichert, Elizabeth N., Williams, R. Jordan, Frantz, Ivan D., Fiascone, John M., MacKinnon, Brenda L., Furey, Anne, Nylen, Ellen, Collins, Monica V., Cosby, Shirley S., McNair, Tara, Estes, Meredith, Hagood, Kelli, Devaskar, Uday, Garg, Meena, Chanlaw, Teresa, Geller, Rachel, Finer, Neil N., Kaegi, David, Rasmussen, Maynard R., Arnell, Kathy, Demetrio, Clarence, Rich, Wade, Colaizy, Tarah T., Baack, Michelle L., Ellsbury, Dan L., Widness, John A., Brumbaugh, Jane E., Johnson, Karen J., Henning, Megan M., Elenkiwich, Chelsey, Goeke, Claire A., Broadbent, Megan, Hogden, Laurie A., Klein, Jonathan M., Dagle, John M., Schmelzel, Mendi L., Bass, Donia B., Walker, Jacky R., Tud, Tracy L., Duara, Shahnaz, Bauer, Charles R., Everett‐Thomas, Ruth, Watterberg, Kristi L., Fuller, Janell, Ohls, Robin K., Beauman, Sandra Sundquist, Lacy, Conra Backstrom, Hartenberger, Carol H., Hanson, Mary Ruffaner, Kuan, Elizabeth, Eichenwald, Eric C., DeMauro, Sara B., Schmidt, Barbara, Kirpalani, Haresh, Abbasi, Soraya, Catts, Christine, Chaudhary, Aasma S., Cucinotta, Dara M., Ghavam, Sarvin, Mancini, Toni, Snyder, Jonathan, D'Angio, Carl T., Guillet, Ronnie, Phelps, Dale L., Reynolds, Anne Marie, Lakshminrusimha, Satyan, Kent, Alison, Binion, Kyle, Bowman, Melissa, Horihan, Cassandra A., Jensen, Rosemary, Hunn, Julianne, Donato, Jennifer, Guilford, Stephanie, Li, Emily, Maffett, Deanna, Orme, Constance, Prinzing, Diane, Reubens, Linda J., Rochez, Daisy, Rowan, Mary, Sabaratnam, Premini, Wadkins, Holly I. M., Williams, Ashley, Wynn, Karen, Burnell, Erica, Jones, Rachel, Sacilowski, Michael G., Scorsone, Ann Marie, Wyckoff, Myra H., Brion, Luc P., Salhab, Walid A., Rosenfeld, Charles R., Vasil, Diana M., Chen, Lijun, DeLeon, Maria M., Eubanks, Frances, Guzman, Alicia, Hensley, Gaynelle, Lee, Lizette E., Leps, Melissa H., Miller, Nancy A., Morgan, Janet S., Pavageau, Lara, Sepulveda, Pollieanna, Yoder, Bradley A., Baserga, Mariana, Faix, Roger G., Rau, Carrie A., Bird, Karie, Burnett, Jill, Christensen, Susan, Davis, Brandy, Elmont, Jennifer O., Jensen, Jennifer J., Loertscher, Manndi C., Marchant, Trisha, Maxson, Earl, McGrath, Kandace, Minton, Stephen D., Osborne, Karen A., Parry, Melody, Schaefer, Susan T., Sheffield, Mark J., Spencer, Cynthia, Weaver‐Lewis, Kimberlee, Woodbury, Kathryn D., Zanetti, Karen, O'Shea, T. Michael, Peters, Nancy, Shankaran, Seetha, Natarajan, Girija, Chawla, Sanjay, Sood, Beena G., Pappas, Athina, Barks, John, Bara, Rebecca, Childs, Kirsten, Christensen, Mary, Panaitescu, Bogdan, Wiggins, Stephanie A., White, Diane, Ehrenkranz, Richard A., Jacobs, Harris, Cervone, Patricia, Konstantino, Monica, Poulsen, Jo Ann, and Taft, Janet
  • BJOG. 129(12):2039-2051

87. Impact of the COVID‐19 pandemic on people with epilepsy: Findings from the US arm of the COV‐E study [2022]

  • Dugan, Patricia, Carroll, Elizabeth, Thorpe, Jennifer, Jette, Nathalie, Agarwal, Parul, Ashby, Samantha, Hanna, Jane, French, Jacqueline, Devinsky, Orrin, Sen, Arjune, Hallab, Asma, Ding, Ding, Andraus, Maria, Perucca, Piero, Costello, Daniel, French, Jacqueline A., O'Brien, Terence J., Depondti, Chantal, Andrade, Danielle M., Sengupta, Robin, Delanty, Norman, Newton, Charles R., Brodie, Martin J., Cross, J. Helen, and Sander, Josemir W.
  • Epilepsia open. 7(4):645-656

88. Left Atrial Strain Has Superior Prognostic Value to Ventricular Function and Delayed-Enhancement in Dilated Cardiomyopathy [2022]

  • Raafs, Anne G., Vos, Jacqueline L., Henkens, Michiel T.H.M., Slurink, Bram O., Verdonschot, Job A.J., Bossers, Daan, Roes, Kit, Gerretsen, Suzanne, Knackstedt, Christian, Hazebroek, Mark R., Nijveldt, Robin, and Heymans, Stephane R.B.
  • JACC.Cardiovascular imaging. 15(6):1015-1026

89. Reply [2022]

  • Raafs, Anne G., Henkens, Michiel T.H.M., Vos, Jacqueline L., Nijveldt, Robin, and Verdonschot, Job A.J.
  • JACC.Cardiovascular imaging. 15(12):2156-2157

90. A point prevalence study of palliative care need and referral rates in adult inpatients [2022]

  • Cooper, Alannah L., Mazzer, Jacqueline, Martin‐Robins, Dipna, and Brown, Janie A.
  • Journal of clinical nursing. 31(21-22):3144-3154

91. Rare missense variants in Tropomyosin‐4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding [2022]

  • Stapley, Rachel J., Poulter, Natalie S., Khan, Abdullah O., Smith, Christopher W., Bignell, Patricia, Fratter, Carl, Lester, Will, Lowe, Gillian, Morgan, Neil V., Morgan, Neil, Watson, Steve, Harrison, Paul, Lordkipanidze, Marie, Mumford, Andrew D., Mundell, Stuart J., Gissen, Paul, Daly, Martina E., Clark, Justin, Williams, Mike, Motwani, Jayashree, Marshall, Dianne, Lawson, Natalie, Nyatanga, Priscilla, Mann, Pat, Kirwan, Julie, Percy, Charles, Green, Pam, Hupston, Helen, Nagapachetty, Koomaravel, Dwenger, Elizabeth, Rourke, Ann O, Pope, Martin, Edmead,, Camillia, Greenway, April, Makris, Michael, Payne, Jeanette, Pavord, Sue, Gooding,, Richard, Dattani, Rashesh, Grimley, Gerry Dolan, Charlotte, Stokley, Simone, Astwood, Emma, Longmuir, Karyn, Chang, Cherry, Foros, Merri, Kightley,, Michelle, Trower, Linda, Thachil, Jecko, Bolton Maggs, Paula, Hay, Charlie, Pike, Gill, Will, Andrew, Grainger, John, Foulkes, Matt, Fareh, Mona, Talks, Kate, Biss, Tina, Kesteven, Patrick, Hanley, John, Vowles, Julie, Basey, Lesley, Knaggs, Kevin, Barnes, Michelle, Collins, Peter, Rayment, Rachel, Alikhan, Raza, Rebecca Morris, Ana Guerrero, Mansell, Dianne, Toh, Cheng Hock, Martlew, Vanessa, Murphy, Elaine, Lachmann, Robin, Rose, Peter, Chapman, Oliver, Lokare, Anand, Marshall, Kathryn, Khan, Naseem, Keeling, David, Curry,, Nikki, Giangrande, Paul, Austin, Steve, Bevan,, David, Alamelu, Jayanthi, Allsup, David, Fletcher, Andrew, Gladstone, Katherine, Fenwick, Jeanette, Woods,, Philippa, Camp, Darren, James, Beki, Preston, Suzie, Spencer, Collette, Pike,, Alexandra, Lai‐Wah, Chung, Thomas, Angela, Myers, Bethan, Evans, Gillian, Elliot, Kim, Davies, Karen, Graham,, Charlotte, Foad, Miranda, and Smith, Jacqueline
  • Journal of thrombosis and haemostasis. 20(2):478-485

92. Claims-Based Relapse and Hospitalization Rates in Patients with Multiple Sclerosis Treated with Natalizumab or Ocrelizumab [2022]

  • Nicholas, Jacqueline, Belviso, Nick, Banerjee, Geentanjoli, Geremakis, Caroline, Avila, Robin, and Bodhinathan, Karthik
  • Multiple sclerosis and related disorders. 59

93. Does coexisting accommodative dysfunction impact clinical convergence measures, symptoms and treatment success for symptomatic convergence insufficiency in children? [2022]

  • Kulp, Marjean T, Sinnott, Loraine T, Cotter, Susan A, Borsting, Eric, Toole, Andrew J, Chen, Angela M, Jenewein, Erin C, Morrison, Ann M, Plaumann, Maureen D, Jones‐Jordan, Lisa, Mitchell, G Lynn, Tea, Yin C, Scheiman, Mitchell M, Cooper, Jeffrey, Schulman, Erica, Hamian, Kimberly, Iacono, Danielle, Larson, Steven, Leung, Valerie, Meeder, Sara, Ramos, Elaine, Ritter, Steven, Steiner, Audra, Stormann, Alexandria, Vricella, Marilyn, Zhu, Xiaoying, Tamkins, Susanna, Aguilera, Naomi, Brafman, Elliot, Capo, Hilda, Cavuoto, Kara, Crespo, Isaura, Dowling, Monica, Draskovic, Kristie, Farag, Miriam, Fischer, Vicky, Grace, Sara, Gutierrez, Ailen, Manchola‐Orozco, Carolina, Martinez, Maria, McKeown, Craig, Osigian, Carla, Pham, Tuyet‐Suong, Small, Leslie, Townsend, Natalie, Gallaway, Michael, Boas, Mark, Calvert, Christine, Franz, Tara, Gerrouge, Amanda, Hayden, Donna, Margolies, Zachary, Meiyeppen, Shivakhaami, Myung, Jenny, Pollack, Karen, Shoge, Ruth, Tang, Andrew, Tannen, Noah, Trieu, Lynn, Trujillo, Luis, Buckland, Michelle, Ellis, Allison, Fogt, Jennifer, McDaniel, Catherine, McGann, Taylor, Mulvihill, Shane, Peiffer, Adam, Pierce, Gil, Preston, Julie, Reuter, Kathleen, Stevens, Nancy, Teeny, Jake, Widmer, Douglas, Zimmerman, Aaron, Barnhardt, Carmen, Chu, Raymond, Huang, Kristine, Parker, Susan, Retnasothie, Dashaini, Wu, Judith, Hertle, Richard, Clark, Penny, Culp, Kelly, Fraley, Kathy, Grant, Drusilla, Hanna, Nancy, Knox, Stephanie, Lawhon, William, Li, Lan, Mitcheff, Sarah, Ricker, Isabel, Roberts, Tawna, Solis, Casandra, Wall, Palak, Zaczyk, Samantha, Hopkins, Kristine, Marsh‐Tootle, Wendy, Bowen, Michelle, Call, Terri, Domnanovich, Kristy, Frazier, Marcela, Guyette, Nicole, Hayes, Oakley, Houser, John, Lee, Sarah, Montejo, Jenifer, Oechslin, Tamara, Spain, Christian, Turner, Candace, Weise, Katherine, Coulter, Rachel, Amster, Deborah, Bade, Annette, Bansal, Surbhi, Falco, Laura, Fecho, Gregory, Green, Katherine, Irizarry, Gabriela, Jhajj, Jasleen, Patterson, Nicole, Rodena, Jacqueline, Tyler, Julie, Weiss, Dana, Zakaib, Lauren, Lorenzana, Ingryd, Meza, Yesena, Mann, Ryan, Quezada, Mariana, Rein, Scott, Rudaitis, Indre, Stepleton, Susan, Wajs, Beata, Redford, Maryann, Denton, Carolyn, Arnold, Eugene, Chase, Christopher, Wee, Sharyl, Dahl‐Leonard, Katlynn, Powers, Kenneth, Alaniz, Amber, Diener‐West, Marie, Good, William V, Grisham, David, Kratochvil, Christopher J, Revicki, Dennis, Wanzek, Jeanne, Alrahem, Mustafa, Dangelo, Julianne, Hegedus, Jordan, Jones, Ian, Junglas, Alexander, Lee, Jihyun, Nettles, Jadin, Mitchell, Curtis, Osman, Mawada, Scott‐Tibbs, Gloria, Teasley, Chloe, Vang, Victor, Varghese, Robin, Dunbar, Mark, Moshfeghi, Arlanna, Nelson, Kathryn, Perlman, Adam, Singh, Ronda, Olivares, Eva, Rosa, Ana, Rosado, Nidia, Silverman, Elias, Brunelli, Marta, Friedman, Stacy, Zhu, Lily, Wong, Lyndon, Chung, Ida, Colon, Kaity, Sims, Janene, Swanson, Marsha, Broadfoot, Adrienne, Anderson, Michelle, Baldwin, Catherine, Mahaphon, Tanya, Bartuccio, Mary, Scombordi, Brandy, Yamada, Tomohiko, Langan, Ryan, Earley, Michael, Gabriel, Gina, Biddle, Molly, Rouse, Michael, Bridgeford, Rebecca, Morris, Jamie, Villalobos, Javier, Granet, David, Hustana, Lara, Robbins, Shira, Castro, Erica, Gomi, Cintia, Mohney, Brian G, Holmes, Jonathan, Rice, Melissa, Karlsson, Virginia, Nielsen, Becky, Sease, Jan, Shevlin, Tracee, Kitts, Tracy, Bacher, Melanie, Barrett, Linda, Watson, Kelly, Wessel, Pam, Costello, Andrew, Hays, Ron D, Hillis, Argye, and Manny, Ruth
  • Ophthalmic and physiological optics. 42(1):59-70

94. 210.5: Differential Immunogenicity of mRNA-1273 Versus BNT162b2 as a Third Vaccine Dose for Solid Organ Transplant Recipients Seronegative After Two BNT162b2 Doses. [2022]

  • Chang, Amy, Chiang, Teresa PY, Alejo, Jennifer L, Mitchell, Jonathan, Kim, Jake D, Abedon, Aura T, Avery, Robin K, Tobian, Aaron AR, Massie, Allan B, Levan, Macey L, Warren, Daniel S, Garonzik-Wang, Jacqueline M, Segev, Dorry L, and Werbel, William A
  • Transplantation. 106(9):S3-S3

95. 230.6: Ad.26.COV2.S Versus BNT162b2 or mRNA-1273 as a Third Dose in Solid Organ Transplant Recipients Seronegative After 2-dose mRNA Vaccination [2022]

  • Chiang, Teresa Po-Yu, Alejo, Jennifer L, Mitchell, Jonathan, Kim, Jake D, Abedon, Aura T, Karaba, Andrew H, Thomas, Letitia, Levan, Macey L, Garonzik-Wang, Jacqueline M, Avery, Robin K, Pekosz, Andrew, Clarke, William A, Warren, Daniel S, Tobian, Aaron AR, Massie, Allan B, Segev, Dorry L, and Werbel, William A
  • Transplantation. 106(9):S71-S72

96. 330.4: SARS-coV-2 Antibody Response to a Third Dose of Homologous mRNA Vaccination in Liver Transplant Recipients [2022]

  • Chang, Amy, Strauss, Alexandra T, Alejo, Jennifer L, Chiang, Teresa PY, Hernandez, Nicole F, Zeiser, Laura B, Boyarsky, Brian J, Avery, Robin K, Tobian, Aaron AR, Levan, Macey L, Warren, Daniel S, Massie, Allan B, Garonzik-Wang, Jacqueline M, Segev, Dorry L, and Werbel, William A
  • Transplantation. 106(9):S262-S263

97. 330.5: A Prediction Model for Antibody Response to Three Vaccines Against SARS-CoV-2 Among Solid Organ Transplant Recipients [2022]

  • Alejo, Jennifer, Chiang, Teresa PY, Mitchell, Jonathan, Kim, Jake D, Abedon, Aura T, Avery, Robin K, Tobian, Aaron AR, Garonzik-Wang, Jacqueline M, Warren, Daniel S, Segev, Dorry L, Werbel, William A, and Bae, Sunjae
  • Transplantation. 106(9):S263-S264

98. Outcomes of SOT Recipients With COVID-19 in Different Eras of COVID-19 Therapeutics. [2021]

  • Sait AS, Chiang TP, Marr KA, Massie AB, Cochran W, Shah P, Brennan DC, Thomas AG, Mehta Steinke S, Permpalung N, Shoham S, Merlo C, Jain T, Boyarsky B, Charnaya O, Gurakar A, Sharma K, Durand CM, Werbel WA, Huang CY, Ostrander D, Desai N, Kim MY, Alasfar S, Bloch EM, Tobian AAR, Garonzik-Wang J, Segev DL, and Avery RK
  • Transplantation direct [Transplant Direct] 2021 Dec 23; Vol. 8 (1), pp. e1268. Date of Electronic Publication: 2021 Dec 23 (Print Publication: 2022).
Abstract
Background: Few reports have focused on newer coronavirus disease 2019 (COVID-19) therapies (remdesivir, dexamethasone, and convalescent plasma) in solid organ transplant recipients; concerns had been raised regarding possible adverse impact on allograft function or secondary infections.
Methods: We studied 77 solid organ transplant inpatients with COVID-19 during 2 therapeutic eras (Era 1: March-May 2020, 21 patients; and Era 2: June-November 2020, 56 patients) and 52 solid organ transplant outpatients.
Results: In Era 1, no patients received remdesivir or dexamethasone, and 4 of 21 (19.4%) received convalescent plasma, whereas in Era 2, remdesivir (24/56, 42.9%), dexamethasone (24/56, 42.9%), and convalescent plasma (40/56, 71.4%) were commonly used. Mortality was low across both eras, 4 of 77 (5.6%), and rejection occurred in only 2 of 77 (2.8%) inpatients; infections were similar in hypoxemic patients with or without dexamethasone. Preexisting graft dysfunction was associated with greater need for hospitalization, higher severity score, and lower survival. Acute kidney injury was present in 37.3% of inpatients; renal function improved more rapidly in patients who received remdesivir and convalescent plasma. Post-COVID-19 renal and liver function were comparable between eras, out to 90 d.
Conclusions: Newer COVID-19 therapies did not appear to have a deleterious effect on allograft function, and infectious complications were comparable.
(Copyright © 2021 The Author(s). Transplantation Direct. Published by Wolters Kluwer Health, Inc.)

99. The power of genetic diversity in genome-wide association studies of lipids. [2021]

  • Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Yousri NA, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, Böger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Koistinen HA, Chandak GR, Yajnik CS, Mercader JM, Tusié-Luna T, Aguilar-Salinas CA, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Lu F, Qu J, Hishigaki H, Lin X, März W, Parra EJ, Cruz M, Gudnason V, Tardif JC, Lettre G, 't Hart LM, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Psaty BM, Brandslund I, Pramstaller PP, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Cucca F, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Justice AE, Baras A, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Thorsteinsdottir U, Stefansson K, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Rotimi CN, Hazelhurst S, Ramsay M, Trembath RC, van Heel DA, Tamiya G, Yamamoto M, Kim BJ, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S, Boehnke M, Natarajan P, Peloso GM, Brown CD, Morris AP, Assimes TL, Deloukas P, Sun YV, and Willer CJ
  • Nature [Nature] 2021 Dec; Vol. 600 (7890), pp. 675-679. Date of Electronic Publication: 2021 Dec 09.
Subjects
Genetic Predisposition to Disease genetics, Humans, Linkage Disequilibrium, Multifactorial Inheritance, Polymorphism, Single Nucleotide genetics, Population Groups, Cardiovascular Diseases genetics, and Genome-Wide Association Study methods
Abstract
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use 1 . Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels 2 , heart disease remains the leading cause of death worldwide 3 . Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS 4-23 have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns 24 . Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine 25 , we anticipate that increased diversity of participants will lead to more accurate and equitable 26 application of polygenic scores in clinical practice.
(© 2021. The Author(s), under exclusive licence to Springer Nature Limited.)

100. Antibody Response to a Fourth Dose of a SARS-CoV-2 Vaccine in Solid Organ Transplant Recipients: A Case Series. [2021]

  • Alejo JL, Mitchell J, Chiang TP, Abedon AT, Boyarsky BJ, Avery RK, Tobian AAR, Levan ML, Massie AB, Garonzik-Wang JM, Segev DL, and Werbel WA
  • Transplantation [Transplantation] 2021 Dec 01; Vol. 105 (12), pp. e280-e281.
Subjects
Humans, Organ Transplantation, Antibody Formation, COVID-19 prevention control, COVID-19 Vaccines immunology, and Transplant Recipients
Abstract
Competing Interests: D.L.S. has received consulting and speaking honoraria from Sanofi, Novartis, CLS Behring, Jazz Pharmaceuticals, Veloxis, Mallinckrodt, and Thermo Fisher Scientific. M.L.L. is the Social Media Editor for Transplantation. The other authors declare no conflicts of interest. J.L.A., J.M., T.P.-Y.C., A.T.A., B.J.B., R.K.A., A.A.R.T., M.L.L., A.B.M., J.M.G.-W., D.L.S., and W.A.W. participated in conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work of revising it critically for important intellectual content; gave the final approval of the version to be published; and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Catalog

Books, media, physical & digital resources
See catalog results

Guides

Course- and topic-based guides to collections, tools, and services.
Search """Robin, Jacqueline,""" in all guide pages
1 - 100