Assessment of Knowledge, Attitudes, and Practices Regarding Non-Inherited Risk Factors for Congenital Heart Disease Among Mothers in Al-Baha City, Saudi Arabia: A Cross-Sectional Study.

Background Despite advancements in healthcare, congenital heart disease (CHD) remains a global concern. It is crucial to understand non-inherited risk factors for CHD to develop effective prevention strategies. This study evaluates the awareness and impact of socio-economic factors on the knowledge and practices regarding CHD among mothers in Al-Baha City, Saudi Arabia.

Identification of a Novel Interferon-Stimulated (ISG15) Gene Variant Associated With Inflammatory Cutaneous Lesions and Zinc Deficiency in a Unique Family: A Case Series and Literature Review.

Interferon-stimulated gene 15 (ISG15) is a pivotal protein involved in antiviral defense and immune regulation. This study presents a remarkable case series of a consanguineous family with a homozygous variant in the ISG15 gene, leading to a complex interplay of intriguing dermatological manifestations and concurrent zinc deficiency. The range of cutaneous phenotypes observed in the family members, from severe ulcerative lesions to atopic dermatitis, highlights the intricate relationship between the identified genetic variant and dermatological conditions.

A Challenging Diagnosis of Kawasaki Disease Shock Syndrome Complicated by Bilateral Pleural Effusion: A Case Report and Literature Review.

Kawasaki disease (KD) is an acute illness primarily affecting children under the age of five. It is characterized by fever and inflammation of small to medium-sized arteries. This case report presents the case of a nine-year-old boy with KD who developed Kawasaki disease shock syndrome (KDSS) complicated by bilateral pleural effusion, which is a rare occurrence.

Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia.

We report the case of a two-year-old full-term girl of consanguineous Saudi parents, who had a history of poor sucking, hypotonia, and bilateral ptosis, as well as recurrent pediatric intensive care unit (PICU) admissions with apnea and global developmental delay and unremarkable family history. A genetic study was conducted and whole exome sequencing (WES) identified a likely pathogenic homozygous variant c.842C>T p.