Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive.
View Article and Find Full Text PDFIntroduction: 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.
View Article and Find Full Text PDFIntroduction: Congenital lobar overinflation (CLO) is a congenital overinflation of a pulmonary lobe. The treatment choice depends on the severity of its symptoms. Surgical intervention is indicated for patients with significant symptomatology, while a conservative approach is used to treat incidental and mildly symptomatic lesions.
View Article and Find Full Text PDFIntroduction: 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.
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).