Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.

The use of genetic testing within nephrology is increasing and its diagnostic yield depends on the methods utilized, patient selection criteria, and population characteristics. We performed exome sequencing (ES) analysis on 102 chronic kidney disease (CKD) patients with likely genetic kidney disease. Patients had diverse CKD subtypes with/without consanguinity, positive family history, and possible hereditary renal syndrome with extra-renal abnormalities or progressive kidney disease of unknown etiology. The identified genetic variants associated with the observed kidney phenotypes were then confirmed and reported. End-stage kidney disease was reported in 51% of the cohort and a family history of kidney disease in 59%, while known consanguinity was reported in 54%. Pathogenic/likely pathogenic variants were identified in 43 patients with a diagnostic yield of 42%, and clinically associated variants of unknown significance (VUS) were identified in further 21 CKD patients (21%). A total of eight novel predicted pathogenic variants and eight VUS were detected. The clinical utility of ES within the nephrology clinic was demonstrated allowing patient management to be disease-specific. In this cohort, ES detected a diagnostic molecular abnormality in 42% of patients with CKD phenotypes. Positive family history and high rates of consanguinity likely contributed to this high diagnostic yield.

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. In families with a history of congenital anomalies, a total of 119 fetuses with structural anomalies were recruited and DNA from invasive samples were used together with parental DNA samples for trio-ES and CMA. Data were analysed to determine possible underlying genetic disorders associated with observed fetal phenotypes. The cohort had a known consanguinity of 81%. Trio-ES led to diagnostic molecular genetic findings in 59 fetuses (with pathogenic/likely pathogenic variants) most with multisystem or renal abnormalities. CMA detected chromosomal abnormalities compatible with the fetal phenotype in another 7 cases. Monogenic ciliopathy disorders with an autosomal recessive inheritance were the predominant cause of multisystem fetal anomalies (24/59 cases, 40.7%) with loss of function variants representing the vast majority of molecular genetic abnormalities. Heterozygous de novo pathogenic variants were found in four fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. Prenatal trio-ES and CMA detected likely causative molecular genetic defects in a total of 55% of families with fetal anomalies confirming the diagnostic utility of trio-ES and CMA as first-line genetic test in the prenatal diagnosis of multisystem fetal anomalies including ciliopathy syndromes.

Perceptions of Arabian Gulf Residents and Citizens about Physical Activity and Social Media Awareness Campaigns: A Qualitative Study.

Physical activity (PA) is crucial for preventing chronic diseases, but in Gulf Cooperation Council (GCC) countries (Oman, Bahrain, Kuwait, Qatar, Saudi Arabia, and the United Arab Emirates), PA levels are lower than in developed countries. The Gulf Health Council's social media PA awareness campaign responded to the public's need for discussion and motivation on this topic. A qualitative study was conducted using semi-structured Zoom interviews with 19 participants from GCC countries between 21 September and 21 October 2021. It aimed to explore PA barriers, facilitators, and perceptions of awareness campaigns. Interviews were transcribed, coded, and analyzed thematically. Facilitators for PA included health value, self-efficacy, persistence, variety, familiar consequences, social support, behavior change techniques, time management, starting at young age, and enjoyment. Barriers encompassed outdoor restrictions, limited amenities, age and weight biases, gym-centric views, lack of proficiency, and injury risk. The study also examined social media awareness campaigns' effectiveness, identifying themes like engagement, acceptability, reach, design, presentation, and perceived outcomes. Results underscore the complexity of PA facilitators and barriers in the GCC, highlighting the need for campaigns addressing values, perceptions, social connections, and practical challenges, emphasizing the role of research and public policy in boosting PA levels.