The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Background: Neurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathogenic or benign. The study aimed to compare the diagnostic yield of comparative hybridization (CGH) and whole exome sequencing (WES) in neurodevelopmental disorders among children attending the King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia. Methods: A retrospective study was conducted between 2015 and 2018 on 105 patients diagnosed with neurodevelopmental disorders through array-based CGH (Array-CGH) and WES. Results: In a sample of 105 patients, 16% was the hit rate of copy number variations (CNVs). WES was requested for CNV-negative patients (n = 79), of which 30% was the hit rate of pathogenic or likely pathogenic single-nucleotide variants. There was a difference in the diagnostic yield between CGH (16%) and WES (30%). Conclusion: WES was a better approach than Array-CGH to detect various DNA mutations or variants. Our findings could guide clinicians, researchers, and testing laboratories select the most cost-effective and appropriate approach for diagnosing their patients.

Considering intermittent fasting among Saudis: insights into practices.

BACKGROUND: There is a dearth of studies on intermittent fasting in Saudi Arabia outside of Ramadan. The aim of this research was to study and describe the practice of intermittent fasting outside of Ramadan among Saudi people. METHODS: A web-based survey that focused on intermittent fasting practices-specifically the use of intermittent fasting applications, goal setting, and the effects of fasting on an individual's state of health-was administered, collected, and analyzed. RESULTS: The study revealed that 58% (298/514) of the respondents practiced intermittent fasting for a duration of less than 3 months. The most-practiced pattern of intermittent fasting was a 16/8 fasting pattern (43.8%, 225/514). About 88.3% (454/514) of those who followed intermittent fasting drank fluids while fasting. Additionally, the amount of weight loss after intermittent fasting was less than 2.2 kg for 35% (180/514) of the participants. The primary goal of intermittent fasting for 44.9% (231/514) of the respondents was to lose weight. The majority of the participants (84.6%, 435/514) did not use any fasting applications. CONCLUSION: The results of the current research on intermittent fasting outside of Ramadan are preliminary and inconclusive. The findings of the present study advance the idea that for some Saudis, the practice of intermittent fasting does not necessarily begin and end with Ramadan; this finding may present a strategic opportunity for Saudi health professionals who are focused on the obesity epidemic and other public health issues in Saudi Arabia. This study sought to help start a discussion on this topic and fill the knowledge gap.

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

BACKGROUND: Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in complex and unsolved cases. METHODS: Three cohorts were used for this analysis: one cohort to assess the hit rate between solo, trio and trio plus testing, another cohort to examine the impact of the testing strategy of sibship genome vs trio-based analysis, and a third cohort to test the impact of an extended family analysis of up to eight family members to lower the number of candidate variants. RESULTS: The hit rates in solo, trio and trio plus testing were 39, 40, and 41%, respectively. The total number of candidate variants in the sibship testing strategy was 117 variants compared to 59 variants in the trio-based analysis. We noticed that the average number of coding candidate variants in trio-based analysis was 1192 variants and 26,454 noncoding variants, and this number was lowered by 50-75% after adding additional family members, with up to two coding and 66 noncoding homozygous variants only, in families with eight family members. CONCLUSION: There was no difference in the hit rate between solo and extended family members. Trio-based analysis was a better approach than sibship testing, even in a consanguineous population. Finally, each additional family member helped to narrow down the number of variants by 50-75%. Our findings could help clinicians, researchers and testing laboratories select the most cost-effective and appropriate sequencing approach for their patients. Furthermore, using extended family analysis is a very useful tool for complex cases with novel genes.