Abstract:Objective: To evaluate the knowledge of basic life support (BLS) among students and health providers in Medicine, Pharmacy, Dentistry, and Allied Health Science Colleges at Qassim University. Methodology:A cross sectional study was performed using an online BLS survey that was completed by 139 individuals.Results: Ninety-three responders were medical students, 7 were medical interns, 6 were dental students, 7 were pharmacy students, 11 were medical science students and 15 were clinical practitioners. No responder scored 100% on the BLS survey. Only two out of the 139 responders (1.4%) scored 90-99%. Both of these individuals were fifth year medical students. Six responders (4.3%) scored 80-89%. Of these, 5 were fifth year medical students, and one was fourth-year medical student. Eleven responders (7.9%) scored 70-79%. Of these, eight were fifth year medical students, two were medical interns and one was a pharmacist. Twenty-three responders (16.5%) scored 60-69%. Of these, 11 were fifth year medical students, 1 was a fourth-year medical student, 3 were medical interns, 2 were medical science students, 1 was a dentistry student, and 5 were pharmacists. Twenty-eight responders (20.1%) scored 50-59%. Of these, 11 were fifth year medical students, 3 were fourthyear medical students, 1 was a third-year medical student, 1 was a second-year medical student, 2 were first-year medical students, 1 was a pharmacy student, 3 were dental students, 1 was a allied health science student, 2 were doctors, and 3 were pharmacists. The remaining 69 responders (49.6%) scored less than 50%. Conclusion:Knowledge of BLS among medicine, pharmacy, dentistry, and allied health science students and health providers at Qassim University is poor and needs to be improved. We suggest that inclusion of a BLS course in the undergraduate curriculum with regular reassessment would increase awareness and application of this valuable life-saving skill set.

Objective: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. Methods: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families. Results: A previously reported mutation (p.Phe154Leu) in ELAC2 gene was detected in 16 families. The index cases presented between 2 and 7 months of age with HCM in 13 infants and dilated CMP (DCM) in 3. Pericardial effusion was observed in 7 infants (44%). All infants died with a median age of death of 4 months. Almost 1/3 of them died during the initial presentation. Conclusion: Our study suggests screening the ELAC2 gene in severe infantile-onset HCM or DCM of unknown etiology, especially in the presence of pericardial effusion. Our work demonstrates a universally poor outcome of the (p.Phe154Leu) variant in ELAC2 gene; a correlation that helps in counseling parents and in planning appropriate medical intervention.

Background - Childhood-onset cardiomyopathy (CMP) is a heterogenous group of conditions the etiology of which is largely unknown. The influence of consanguinity on the genetics of CMP has not been addressed at a large scale. Methods - To unravel the genetic etiology of childhood-onset CMP in a consanguineous population a categorized approach was adopted. Cases with childhood-onset CMP were consecutively recruited. Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either: (i) Targeted Genetic Test (TGT) with: targeted mutation test, single gene test, or multi-gene panel for Noonan syndrome, or (ii) Untargeted genetic test with whole exome sequencing (WES) or whole genome sequencing (WGS). Several bioinformatics tools were used to filter the variants. Results - 205 unrelated probands with various forms of CMP were evaluated. The median age of presentation was 10 months. In 30.2% (n=62), TGT had a yield of 82.7% compared to 33.6% for WES/WGS (n=143) giving an overall yield of 53.7%. Strikingly, 96.4% of the variants were homozygous, 9% of which were found in 4 dominant genes. Homozygous variants were also detected in 7 novel candidates ( ACACB , AASDH , CASZ1 , FLII , RHBDF1 , RPL3L , ULK1 ). Conclusions - Our work demonstrates the impact of consanguinity on the genetics of childhood-onset CMP, the value of adopting a categorized population-sensitive genetic approach, and the opportunity of uncovering novel genes. Our data suggest that if a founder mutation is not suspected, adopting WES/WGS as a first-line test should be considered.

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.  Severe CHD is a major health problem at the Kingdom of Saudi Arabia and worldwide. The incidence of severe CHD likely to require intervention in infancy, in the province of Al-Qassim, Saudi Arabia, is 5.4 per 1000 live births.