Public Awareness of Common Eye Diseases and the Role of Pharmacists in Raising This Awareness in Saudi Arabia: A Cross-Sectional Study.

Knowledge of common eye disorders and their prevention and treatment can play an essential role in reducing the visual impairment burden. A cross-sectional, questionnaire-based study was conducted from 15 November 2020 to 15 January 2021 to estimate the knowledge and awareness about common eye problems and their possible risk factors among the general population of the Hail Region, Saudi Arabia. The study also investigated the participants' sources of information about eye diseases.

A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs.

Objective: Familial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. While sarcomeric gene mutations explain many HCM cases, the genetic basis of about half of HCM cases remains elusive. Here we aimed to identify the gene causing HCM in a non-consanguineous Saudi Arabian family with affected family members and a history of sudden death.

Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.

Objective: Pediatric familial dilated cardiomyopathy (DCM) is a rare and severe heart disease. The genetics of familial DCM are complex and include over 100 known disease-causing genes, but many causative genes are unknown. We aimed to identify the causative gene for DCM in a consanguineous Saudi Arabian family with affected family members and a history of sudden death.

Congenital aneurysm of the right atrial appendage.

Congenital aneurysm of the right atrial appendage is a rare cardiac anomaly with only a few reported cases in the literature. Most of the cases involved adults in their third decade of life. We report a case of congenital aneurysm of the right atrial appendage in a newborn, who initially presented with jaundice and incidentally discovered systolic murmur.

Angiotensin-converting enzyme gene insertion/deletion polymorphism in Saudi patients with rheumatic heart disease.

Objectives: To investigate the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and rheumatic heart disease (RHD) in Saudi patients.

Methods: A case-control study was conducted in Saudi RHD patients. Genomic DNA was isolated from 99 RHD patients attending the Pediatric Cardiology Clinic at the Maternity and Children Hospital, Al-Madinah, Saudi Arabia from March 2013 to June 2014, and from 145 age- and gender-matched controls.