Exome Sequencing Reveals Novel Variants in Saudi Patients with Congenital Titinopathies.

Our goal was to determine the genetic basis of early-onset myopathy in patients from two unrelated families. Whole-exome sequencing, autozygosity mapping, and confirmatory targeted Sanger sequencing were performed using genomic DNA extracted from blood samples from three myopathic patients of two unrelated families. Variant filtering and pathogenicity analyses were evaluated according to standard protocols and up-to-date pipelines applied at the King Faisal Specialist Hospital and Research Center.

Case Report: Neonatal Multi-System Inflammatory Syndrome Associated With SARS-CoV-2 Exposure in Two Cases From Saudi Arabia.

Vertical transmission of SARS-CoV-2 is under investigation. A few reports suggest the possibility of SARS-CoV-2 transmission from mothers to their neonates. Most neonates have mild symptoms, but some develop multisystem involvement and shock.

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Background: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms.

Case Presentation: We report two Saudi siblings with TT1.

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

Insulin-like growth factor binding proteins (IGFBPs) play important physiological functions through the modulation of IGF signaling as well as IGF-independent mechanisms. Despite the established role of IGFs in development, a similar role for the seven known IGFBPs has not been established in humans. Here, we show that an autosomal-recessive syndrome that consists of progressive retinal arterial macroaneurysms and supravalvular pulmonic stenosis is caused by mutation of IGFBP7.

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Limb girdle muscular dystrophy type 2 (LGMD2) is a genetically heterogeneous autosomal recessive disorder caused by mutations in 15 known genes. DNA sequencing of all candidate genes can be expensive and laborious, whereas a selective sequencing approach often fails to provide a molecular diagnosis. We aimed to efficiently identify pathogenic mutations via homozygosity mapping in a population in which the genetics of LGMD2 has not been well characterized.

Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity.

Background: It is speculated that parents' consanguinity status effects the pattern of congenital heart defects (CHDs). In this study the CHD pattern in children with Down's syndrome (DS) was determined in a Saudi population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity.

Material/methods: The prospective study was conducted in an open-access pediatric echocardiography clinic in Riyadh, Saudi Arabia.

Rare but fatal complication of umbilical venous catheterization.

Umbilical venous catheterization in neonates is an intravascular infusion route for resuscitation and maintenance fluids, blood and blood products, parenteral nutrition, and hypertonic solutions that can be used as an alternative when peripheral venous access is not possible. When used, special precautions should be taken and guidelines followed to prevent rare but often fatal complications.

Arrhythmogenic right ventricular cardiomyopathy in an 11-year-old girl and typical echocardiographic features.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare entity that affects children as well as adults. This is a genetic disorder that can be inherited and whose hallmark is fibrofatty replacement of ventricular muscle, especially of the right side, with ventricular arrhythmias and progressive heart failure. We describe a case of an 11-year-old Saudi girl with ARVC and the echocardiographic characteristics that had been highlighted by the Taskforce for ARVC, and we suggest that a concurrent criterion be added to aid further echo identification in children.

Perception of Canadian training programs by Saudi resident trainees.

Background: The aim of the study was to determine how Saudi medical trainees in Canada perceive their training programs with regards to educational, ethnic and socio-cultural issues, and if different factors such as the chosen field of training, place or level of training make any difference to this perception.

Subjects And Methods: All Saudi residents in training programs in Canada in the 1996/1997 academic year were surveyed using a written anonymous self-administered questionnaire, evaluating educational, ethnic and socio-cultural aspects of various training programs.

Results: The response rate was 72.

Cardiac diseases as a risk factor for stroke in Saudi children.

Objective: To ascertain the role of cardiac diseases as a risk factor for stroke in a cohort of Saudi children who were evaluated in a retrospective and prospective study.

Methods: Children with cardiac diseases were identified from within a cohort of 104 Saudi children who presented with stroke. They were seen as inpatients in the Pediatric Wards or evaluated at the Outpatient Clinics of the Division of Pediatric Neurology (DPN), and the Division of Pediatric Cardiology at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study).

Endocarditis prophylaxis in children with congenital heart disease. A parent's awareness.

Objective: The aim of this study is to determine the parental knowledge of bacterial endocarditis prophylaxis (BEP).

Methods: Parents of 205 patients attending the Pediatric Cardiology Clinics at King Khalid University Hospital, Riyadh, King Fahad University Hospital, Al-Khobar and Prince Sultan Cardiac Center, Riyadh, Kingdom of Saudi Arabia from July 1999 to June 2000, were interviewed by a standard questionnaire pertaining to their knowledge of their child's cardiac disease, medications, and BEP. The patients' cardiac lesions and current medications were verified by a review of medical records.