articles+ search results

Epilepsy, Neurological conditions, WES, Saudi Arabia, Variants, Medicine, Genetics, and QH426-470

Abstract Background Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees. Results We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed. Conclusion Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.

Acute annular outer retinopathy, Acute zonal occult outer retinopathy, Invasive ductal carcinoma, Retinal disease, Case report, Ophthalmology, and RE1-994

Abstract Background Acute annular outer retinopathy (AAOR) is an uncommon disease. To date, there are few documented cases in the literature. Our case report is the first to describe a case of acute annular outer retinopathy in a patient with invasive ductal breast carcinoma. Case presentation The patient presented with photopsias and visual loss approximately 3 weeks prior to a diagnosis of invasive ductal breast carcinoma. We have documented the outer annular white ring seen in the acute phase of this disease and correlate it anatomically with Spectral-domain optical coherence tomography (SD-OCT) imaging. We identified RPE atrophy with nodular hyperreflectivity and loss of ellipsoid layer within the white annular ring with corresponding visual field loss. Fundus autofluorescence correlated with structural alterations seen on SD-OCT and showed both presumed active hyperautofluorescent zones with patchy hypoautofluorescent zones of atrophy and a classic annular hyperautofluorescent border. This case provides additional information about the natural history of this rare entity and its prognosis and varied presentation. Conclusions The authors report a single case of acute annular outer retinopathy in a patient with invasive ductal breast carcinoma with the corresponding SD-OCT, fundus autofluorescence and visual field findings, during the acute phase of the disease. These findings provide new insight into the characteristic features, etiology and progression of this rare disease.

decolonial design education, design pedagogy, minor gestures, decoloniality, critical pedagogy, Drawing. Design. Illustration, and NC1-1940

This paper lays out the groundwork for a concept we define as minor gestures within design education. Moving away from a conversation centered around decolonization—a term, we argue, that has been co-opted to become a placeholder for equality, diversity, and inclusion, and tick-box exercises within academic institutions— we assert that minor gestures create the conditions for meaningful conversations on what it actually means to move towards decolonizing design education. Using examples from our own pedagogical practices, we sketch out and outline a proposition for minor gestures as theory-in-the-making, or an incomplete pathway towards meaningful, structural change.

Epidermolysis bullosa, Supraglottic stenosis, Laryngeal manifestation, Otorhinolaryngology, and RF1-547

Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased vulnerability to mechanical stress at the dermo-epidermal junction and basilar layer of the epidermis. Laryngeal EB involvement is a major and life-threatening manifestation of the disease. Due to the nature of EB, granulation tissue and stenosis can occur, usually at the glottic, subglottic, or supraglottic levels, as seen in our patients.We described cases in which four patients with EB presented with supraglottic stenosis and were managed at tertiary hospital in Saudi Arabia. The clinical and therapeutic characteristics of all patients are discussed.

Core muscles strength, Dynamic balance, Hospital staff, Miscellaneous systems and treatments, and RZ409.7-999

Abstract Background Healthcare workers are at the risk of developing weakness in core muscles and balance disturbance due to stress at the workplace. The purpose of this study was to examine the relationship between core muscle strength measured with a plank test and dynamic balance assessed with the modified Star Excursion Balance Test (MSEBT) among hospital staff. A convenience sample of 27 healthy male employees at Rabigh General Hospital participated in the study; participants performed MSEBT and plank tests in the gym of the physical therapy department at the hospital. Results The mean age of the 27 participants was 32.19, standard deviation (SD) 4.16 years; mean height was 171.15, SD 6.39 cm; mean weight was 72.37, SD 11 kg; and body mass index was 24.73, SD 3.62 kg/m2. Pearson’s correlation coefficient showed a positive significant correlation between scores on the plank test with leg reach scores on MSEBT. The data showed a highest correlation between scores on plank test with dominant anterior leg reach scores on MSEBT (r = 0.446, p = 0.010), and lowest with non-dominant anterior leg reach scores on MSEBT (r = 0.335, p = 0.044). Conclusion Weak to moderate positive significant correlation between the plank test of isometric core muscle strength and both the right and dominant of the anterior, posteromedial, and composite score on the MSEBT of the lower limb and significantly with non-dominant anterior reach. There was no significant difference between the administrative and health practitioner on the plank test or MSEBT.

Government, Perception, Middle East, Arab countries, COVID-19, Level of satisfaction, Public aspects of medicine, and RA1-1270

Abstract Background Public acceptance of governmental measures are key to controlling the spread of infectious diseases. The COVID-19 pandemic has placed a significant burden on healthcare systems for high-income countries as well as low- and middle-income countries (LMICs). The ability of LMICs to respond to the challenge of the COVID-19 pandemic has been limited and may have affected the impact of governmental strategies to control the spread of COVID-19. This study aimed to evaluate and compare public opinion on the governmental COVID-19 response of high and LMICs in the Middle East and benchmark it to international countries. Methods An online, self-administered questionnaire was distributed among different Middle Eastern Arab countries. Participants’ demographics and level of satisfaction with governmental responses to COVID-19 were analyzed and reported. Scores were benchmarked against 19 international values. Results A total of 7395 responses were included. Bahrain scored highest for satisfaction with the governmental response with 38.29 ± 2.93 on a scale of 40, followed by the Kingdom of Saudi Arabia (37.13 ± 3.27), United Arab Emirates (36.56 ± 3.44), Kuwait (35.74 ± 4.85), Jordan (23.08 ± 6.41), and Lebanon (15.39 ± 5.28). Participants’ country of residence was a significant predictor of the satisfaction score (P

active stretching, pectoralis muscles, rounded shoulder posture, strength training, trapezius muscle, and Medicine

Background: The shortening of the pectoralis minor muscle (PMi-M) and weakening of the lower trapezius muscle (LTr-M) affect scapular movement, resulting in the development of a rounded shoulder posture and reduction in the shoulder flexion range of motion (SFROM). Objective: This study evaluated the combined effect of LTr-M strengthening and PMi-M stretching on correcting the rounded shoulder postures and SFROM among young Saudi females. Methods: This study was based on a two-arm parallel-group repeated measures randomized comparative design. A total of sixty female participants with rounded shoulder postures were recruited and randomly allocated into groups 1 and 2 (n = 30/group). Each group performed supervised PMi-M stretching; however, group 2 performed a combination of LTr-M strengthening and PMi-M stretching. The outcomes, including rounded shoulder posture and SFROM, were assessed using the pectoralis minor length test (PMLT) and universal goniometer. A repeated measure ANOVA was used to compare the differences within-group and between-group for the outcomes measures at one-week (baseline) pre-intervention, two weeks, and three -weeks post-intervention. The significance level was set at q > 2.00 and p < 0.05 for all respective statistical analyses. Results: The within-group comparison revealed significant improvements (q > 2.00) in the outcomes of PMLT and SFROM when comparing their post-intervention scores to the baseline scores. The between-group comparison revealed a significant and an insignificant (q < 2.00) difference in the outcomes of PMLT and SFROM, respectively when comparing their scores at the second- and third-week post-intervention. Furthermore, the effect size of the intervention suggests an advantage of group 2 over group 1 in increasing the resting length of the PMi-M only among young Saudi females. Conclusions: The combined effect of LTr-M strengthening and PMi-M stretching was more beneficial than PMi-M stretching alone in correcting the rounded shoulder posture among young Saudi females by increasing PMi-M resting length. However, it could not yield a differential improvement in the SFROM outcome among them.

Night eating syndrome, Binge eating, Psychological symptoms, Depression, Anxiety, Impulsiveness, Science (General), and Q1-390

The objective of this meta-analysis was to find out the prevalence of Night Eating Syndrome (NES) associated with psychological disorders among university students. Extensive search of database yielded 1541 articles matching the search keywords, out of which were 1528 were excluded due to difference in population, outcome, and study design. At the end, only 13 articles were retrieved which aligned with the inclusion criteria. Prevalence of NES associated with psychological disorders in 9432 participants was 8.2% (95% CI 4.9: 13.4) but there was high level of heterogeneity. Female university students had a higher prevalence of the disorder (7.2%) with a high degree of heterogeneity (τ2 = 0.687, I2 = 96%, P