Arab founder variants: Contributions to clinical genomics and precision medicine.

Background: Founder variants are ancestral variants shared by individuals who are not closely related. The large effect size of some of these variants in the context of Mendelian disorders offers numerous precision medicine opportunities.

Methods: Using one of the largest datasets on Mendelian disorders in the Middle East, we identified 2,908 medically relevant founder variants derived from 18,360 exomes and genomes and investigated their contribution to the clinical annotation of the human genome.

Correlation of Gut Microbiota, Vitamin D Status, and Pulmonary Function Tests in Children With Cystic Fibrosis.

Background: Children with cystic fibrosis (CF) are expected to have suboptimal serum vitamin D status and altered gut microbiota. The altered gut microbiota is hypothesized to have a pro-inflammatory effect that further complicates the existing respiratory inflammation. Emerging evidence suggests an association between vitamin D and gut microbiota.

Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.

Background: Internationally, Cystic fibrosis-associated liver disease (CFLD) is considered the third leading cause of death, following lung disease and transplantation complications.

Aims: To identify the prevalence of CFLD in cystic fibrosis (CF) patients.

Methodology: A retrospective chart review for all patients with CF liver disease from a tertiary care center.

First report on the prevalence of bacteria in cystic fibrosis patients (CF) in a tertiary care center in Saudi Arabia.

Introduction: Bacterial infections in CF patients are common and start early in life. The prognosis of the disease is substantially dependent on chronic respiratory infection and inflammation. (PA) infection or chronic colonization have been established to cause a chronic decline in pulmonary function (PFT), and/or increase CF mortality.

The first report on the association of celiac disease and cystic fibrosis in a tertiary care center in Saudi Arabia.

Introduction: Celiac disease (CD) has been described before in Saudi Arabia (SA) to be at the range of 1%-2% in the general population, but the association of celiac disease and cystic fibrosis (CF) has never been described before in the Middle East.

Objectives: To describe the prevalence of the association of CD and CF in patients with gastrointestinal symptomatology in a tertiary care center.

Method: ology: A retrospective charts review of all confirmed CD and CF patients for the years 1989-2018.

The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

Introduction: Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops symptoms of bowel obstruction, such as distention of the abdomen or vomiting.

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

Introduction: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.

Objectives: To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia.

The first report of Methicillin-resistant (MRSA) in cystic fibrosis (CF) patients in Saudi Arabia.

Introduction: Methicillin-resistant infections have been increasingly reported in patients with cystic fibrosis (CF) who have progressive deterioration in their pulmonary function.

Objectives: To determine the prevalence of MRSA infections in CF in a tertiary care center in Saudi Arabia.

Methodology: This is a retrospective chart review conducted as part of the CF registry data from 1 January 2002 to 1 June 2016.

The first report on immunoglobulins A, E, G and M levels in cystic fibrosis patients in Saudi Arabia.

Background: Previous reports have shown that pulmonary and systemic hypergamma-globulinemia in CF patients is a reflection of chronic pulmonary infection. Infection with is known to have major prognostic significance in patients CF. This study aims to identify the incidence of immunoglobulins (especially: IgG, and IgE) in a cohort of CF patients.

The prevalence of viral infections in children with cystic fibrosis in a tertiary care center in Saudi Arabia.

Introduction: Studies have shown that pulmonary exacerbations in cystic fibrosis (CF) patients are associated with respiratory viruses. The most common agent causing viral infections in patients with CF before the age of 3 years is respiratory syncytial virus.

Objectives: To obtain the prevalence of the different types of viral infection in CF patients and to identify its relation with the type of bacterial infection, (CFTR) mutations and pulmonary function test (PFT).

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Background: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates.

The first case report of double homozygous of 2 different mutations in the gene in Saudi Arabia.

The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.

Cardiac catheterization in children with pulmonary hypertensive vascular disease: consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces.

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance.

The road for survival improvement of cystic fibrosis patients in Arab countries.

Cystic fibrosis (CF) is a lethal, monogenic disorder that affects multiple organ systems of the body. The incidence has been described before in the Middle East to be 1 in 2000 to 1 in 5800 live births, and the median survival was estimated to be from 10 to 20 years of age. The present article attempts to revisit various facets of this disease and specifically highlights the most important lacunae that exist in treating CF.

Saudi guidelines on the diagnosis and treatment of pulmonary hypertension: 2014 updates.

The Saudi Association for Pulmonary Hypertension (previously called Saudi Advisory Group for Pulmonary Hypertension) has published the first Saudi Guidelines on Diagnosis and Treatment of Pulmonary Arterial Hypertension back in 2008.[1] That guideline was very detailed and extensive and reviewed most aspects of pulmonary hypertension (PH). One of the disadvantages of such detailed guidelines is the difficulty that some of the readers who just want to get a quick guidance or looking for a specific piece of information might face.

Repair of congenital heart disease with associated pulmonary hypertension in children: what are the minimal investigative procedures? Consensus statement from the Congenital Heart Disease and Pediatric Task Forces, Pulmonary Vascular Research Institute (PVRI).

Standardization of the diagnostic routine for children with congenital heart disease associated with pulmonary arterial hypertension (PAH-CHD) is crucial, in particular since inappropriate assignment to repair of the cardiac lesions (e.g., surgical repair in patients with elevated pulmonary vascular resistance) may be detrimental and associated with poor outcomes.

Clinical profile of Saudi children with bronchiectasis.

Objective: This study represents the experience of a tertiary care center in Saudi Arabia on non-cystic fibrosis bronchiectasis.

Methods: A retrospective review of all patients with confirmed Non-Cystic Fibrosis (Non-CF) bronchiectasis by chest X-ray and or CT chest in a pulmonary clinic for the period 1993-2005 at a tertiary care center in Riyadh.

Results: A0 total of 151 cases were diagnosed as Non-CF bronchiectasis.

A review of 151 cases of pediatric noncystic fibrosis bronchiectasis in a tertiary care center.

Objective: This study was conducted to review the etiological factors and diseases associated with pediatric noncystic fibrosis bronchiectasis in a tertiary care center in Saudi Arabia.

Materials And Methods: A retrospective review of all patients with confirmed noncystic fibrosis (Non-CF) bronchiectasis by chest X-ray and/or CT chest in a pulmonary clinic during the period 1993-2005 at a tertiary care center in Riyadh.

Results: A total of 151 cases were diagnosed as Non-CF bronchiectasis.

Gastroesophageal reflux following repair of esophageal atresia and tracheoesophageal fistula.

Objective: This study represents the experience of a tertiary care center in the Kingdom of Saudi Arabia (KSA) on the long-term effect on the lungs of esophageal atresia (EA) and tracheoesophageal fistula repair (TEF), and to emphasize the magnitude of gastroesophageal reflux (GER) post-EA or post-TEF repair.

Methods: A retrospective review of all patients referred to the pulmonary clinic with EA/TEF or re-operative evaluations from the period 1993-2004 at King Faisal Specialist Hospital and Research Centre, Riyadh, KSA.

Results: Forty-one patients with confirmed EA/TEF (26 males and 15 females) were included in the study.

Cystic fibrosis: presentation with other diseases, the experience in Saudi Arabia.

Simultaneous occurrence of Cystic fibrosis and other inherited diseases or congenital anomalies has been rare. This association has never been described before in the Arab population. In this report we describe the first report on cystic fibrosis in association with other diseases in the same patient such as sickle cell disease, Insulin dependant Diabetes mellitus, congenital adrenal hyperplasia, cardiac anomalies in twins and Ehler's Danlos syndrome.