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.

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

Eastern Mediterranean region, honor killing, violence against women, femicide, homicide, and Medicine

Honor killing is a violent crime committed by one or more perpetrators, in which the crime’s intention is to restore honor to their family. In this narrative review, the authors investigate the epidemiology of honor killing in the Eastern Mediterranean Region. Furthermore, the social, cultural, and legal aspects of honor killing are discussed. Numerous socio-cultural factors lead to the action of killing for honor in this region. They include deeply rooted patriarchal dominance, the desire to maintain social status, and being poorly educated. Honor killing perpetrators have similar characteristics, such as rating female chastity at a higher price and justifying violence against women. The impact of honor killing on family members is much greater than the perceived families’ beliefs of the community’s rejection of the female’s dishonorable behavior. Silence culture dominates these societies, and many crimes are under-reported in this region. Often, a judicial trial is not conducted for such heinous crimes. Penal code reforms, campaigns to promote human rights, steps to improve the education level, and active participation of civil society in condemning such crimes are a few essential measures that need to be considered in order to curb the social evil of honor killing.

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

medical students, medical schools, social accountability, social responsibility, medical education, Education (General), and L7-991

BackgroundGlobally, there is a rising interest in the concept of social accountability (SA). The literature evaluating SA of medical schools is limited; however, some international studies have revealed a lack of understanding of SA by medical students. This study evaluated the perception of SA among medical students at a governmental university in Saudi Arabia.MethodA cross-sectional study with 336 currently enrolled medical students was conducted from September 2020 to May 2021. The data were collected using an electronic survey comprised of the THEnet questionnaire that included 12 items to assess the perception of SA and some demographic variables. The total score was categorized into four groups and compared with the demographic profile of students.ResultsOut of the 336 participants, the mean age was 21.26 ± 0.5 years, with most students in the 19–21 age group (n = 154, 46%), and 189 (56.3%) were males. In addition, preclinical and clinical students had similar representation: 170 (51%) and 166 (49%), respectively. Most participants (173, 52%) scored in the 18–36 range, reflecting good perceived SA. The demographic profile of students (i.e., age, GPA, and year of study) was significantly associated with perceived SA (p = 0.003, 0.002, and < 0.001, respectively).ConclusionThe study concludes that most medical students had a good level of perceived SA about their institution. The preclinical year students exhibited a better perception of SA. The final-year students were more critical about the SA of the institution compared to other students.

Strength, Functional performance, Sprint, Collegiate male football players, Plyometric training, NMES, and Medicine

Background The study’s objective was to analyze the influence of an 8-week neuromuscular electrical stimulation (NMES) with a plyometric (PT) and strength training (ST) program on muscular, sprint, and functional performances in collegiate male football players. Methods Sixty collegiate male football players participated in this randomized controlled trial single-blind study. All the participants were randomly divided into two groups: (1) NMES group (Experimental, n = 30) who received NMES assisted ST and (2) sham NMES group (Control, n = 30) who received sham NMES assisted ST. In addition, participants from both groups received a PT program; both groups received intervention on three days a week for 8-weeks. The study’s outcomes, such as muscular, sprint, and functional performances, were assessed using a strength test (STN) for quadriceps muscle, sprint test (ST), and single-leg triple hop test (SLTHT), respectively, at baseline pre-intervention and 8-week post-intervention. The interaction between group and time was identified using a mixed design (2 × 2) ANOVA. Results Significant difference found across the two time points for the scores of STN: F (1.58) = 5,479.70, p < 0.05; SLTHT: F (1.58) = 118.17, p < 0.05; and ST: F (1.58) = 201.63, p < 0.05. Similarly, the significant differences were found between groups averaged across time for the scores of STN: F (1.58) = 759.62, p < 0.05 and ST: F (1.58) = 10.08, p < 0.05. In addition, after 8-week of training, Cohen’s d observed between two groups a large to medium treatment’s effect size for the outcome STN (d = 10.84) and ST (d = 1.31). However, a small effect size was observed only for the SLTHT (d = 0.613). Conclusions Findings suggest that the effect of PT and ST with either NMES or sham NMES are equally capable of enhancing muscular, sprint, and functional performances in collegiate male football players. However, PT and ST with NMES have shown an advantage over PT and ST with sham NMES in improving muscular performance and sprint performance among the same participants.