AI Article Synopsis
Article Abstract
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.
Methodology: A retrospective chart review of all CFTR variants conducted from January 1, 1992 to December 1, 2017.
Results: The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%). In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%).
Conclusion: The eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G > A (3120+1G > A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7922840 | PMC |
| http://dx.doi.org/10.1016/j.ijpam.2019.12.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Diagnostic capabilities of sound-breathing test in assessment of pulmonary ventilation function in children and adults (retrospective review and prospect)].
Vopr Kurortol Fizioter Lech Fiz Kult
December 2024
Patrice Lumumba Peoples' Friendship University of Russia, Moscow, Russia.
Objective: To develop and try out a convenient and accessible for use technology for testing the pulmonary function in children and adults, including in patients with chronic bronchopulmonary pathology.
Material And Methods: The article presents the results of Lazarev sound-breathing test (LST) in different cohorts of children and adults, including pregnant women and children suffering from chronic bronchopulmonary diseases, in particular cystic fibrosis.
Results: A direct dependence of the LST indicators' level from the age of children and adolescents has been obtained.
Regulation of Branchial Anoctamin 1 Expression in Freshwater- and Seawater-Acclimated Japanese Medaka, Oryzias latipes.
J Exp Zool A Ecol Integr Physiol
December 2024
Departement of Biology, Faculty of Science, Academic Assembly, University of Toyama, Gofuku, Toyama, Japan.
In euryhaline teleosts, the cystic fibrosis transmembrane conductance regulator (CFTR) in seawater (SW)-type chloride cells facilitates apical Cl secretion for SW adaptation, while alternative Cl excretion pathways remain understudied. This study investigates the role of the calcium-activated chloride channel, Anoctamin 1 (ANO1), in the gills of the euryhaline Japanese medaka (Oryzias latipes) under hyperosmolality and cortisol (CORT) influence. Acclimation to artificial SW, NaCl, mannitol, or glucose significantly upregulated ANO1 and CFTR mRNA expression in gills, unlike urea treatment.
View Article and Find Full Text PDFDo Pulmonary Ionocytes Absorb Chloride or Secrete Chloride?
Am J Physiol Cell Physiol
December 2024
Department of Internal Medicine and Pappajohn Biomedical Institute Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, USA.
Pulmonary ionocytes express high levels of cystic fibrosis transmembrane conductance regulator (CFTR) channels. When studied using the short-circuit current technique, ionocytes produce CFTR-dependent short-circuit currents consistent with Cl secretion. However, when studied without a voltage-clamp, data indicate that ionocytes absorb Cl.
View Article and Find Full Text PDFPilot and feasibility study of dietary composition with elexacaftor-tezacaftor-ivacaftor concentrations in people with cystic fibrosis.
Pharmacotherapy
December 2024
Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Background: Nutritional support for people with cystic fibrosis (PwCF) after the implementation of novel drug therapies is shifting from managing malnutrition through a high-fat, high-calorie diet to managing emerging incidences of obesity in this population. Additionally, dietary recommendations prescribed with elexacaftor/tezacaftor/ivacaftor (ETI) recommend taking this drug with a fat-containing meal, which is variably interpreted by patients. This pilot and feasibility study was conducted to assess dietary fat intake and body composition on ETI plasma concentrations.
View Article and Find Full Text PDFRecreational Facilities as Reservoirs for Multidrug-Resistant Staphylococcus aureus.
Microbiol Immunol
December 2024
Department of Biology, West Chester University of Pennsylvania, West Chester, Pennsylvania, USA.
Antibiotic-resistant pathogens in public settings present a growing risk to human health. Staphylococcus aureus often asymptomatically colonizes human skin, while virulent strains cause soft tissue infections, osteomyelitis, endocarditis, and are associated with cystic fibrosis. Here we investigated the presence and distribution of multidrug-resistant S.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!