Cystic Fibrosis
Victor A. Bernstam in Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Cystic fibrosis (CF) is the most frequent, fatal autosomal recessive disease, affecting Caucasians with an incidence of 1:2000–2500. A set of consensus guidelines for CF patient management has been issued, and the diagnosis of CF at the gene level is believed to “contribute to confirmation of the diagnosis of CF in the future”. The CF locus has been linked to a polymorphic locus controlling the activity of serum aryl esterase paraoxanase subsequently assigned to chromosome 7. Physical mapping of the CF region, using pulsed-field gel electrophoresis, saturation cloning, chromosome jumping, and chromosome walking, helped to accelerate cloning of deoxyribonucleic acid from the target region. The disturbances in electrolyte transport and its regulation have been linked to the CF gene product, the cystic fibrosis transmembrane conductance regulator (CFTR). The CF gene product, called CFTR, is 1480 amino acids long with a molecular mass of 168,138 Da.
The Application of Genetic Tests in an Assisted Reproduction Unit: Cystic Fibrosis Carrier Screening
Nicolás Garrido, Rocio Rivera in A Practical Guide to Sperm Analysis, 2017
Cystic fibrosis (CF) is an autosomal genetic recessive disease that mostly affects the Caucasian population with an incidence estimation of 1 case every 2500-3000 newly live births. The disease is clinically manifested through a high concentration of electrolytes in sweat, pulmonary and gastrointestinal obstruction, pancreatic insufficiency, and infertility in both sexes. In 1989, the responsible gene for CF, named cystic fibrosis transmembrane conductance regulator (CFTR), was identified. This chapter summarizes recently obtained findings that associate male infertility with mutations of the CFTR gene, responsible for the CF disease. It also presents a description of the possible role of the CFTR protein in different cell signaling pathways involved in important reproductive processes in male fertility, as well as in the clinical application of the following findings. Male infertility can have different etiologies: alterations in sex chromosomes and autosomes, microdeletions in chromosome regions containing families of genes that regulate spermatogenesis, the phenotypic association observed between CF and BAVD, among others.
Reporting the study of your improvement
David P. Stevens in Writing to Improve Healthcare, 2018
The study of an improvement initiative goes well beyond the description of its implementation. It includes the description of the rationale for undertaking the initiative, the strength of evidence that supports the conclusion that an improvement actually occurred and so called ex post assessment of why a particular initiative was successfully implemented. In this chapter, the authors explore the elements in one's healthcare improvement manuscript, where they fit best. They also explores how to know you have provided sufficient insight into these elements for one's reader to make good use of your report for the benefit of further healthcare improvement. The Cystic Fibrosis Care Network provides a case study for reporting rationale. Biomedical scientists are well grounded in parametric statistical methods that the authors learned in medical or graduate school. Randomized Controlled Trials—a bedrock method for many biomedical studies—are extremely useful, but less common in healthcare improvement science for many reasons.
Ivacaftor for patients with cystic fibrosis
Published in Expert Review of Respiratory Medicine, 2014
Ivacaftor is an oral bioavailable potentiator of the cystic fibrosis transmembrane conductance regulator protein. It is the first therapeutic agent that has been registered for clinical use which targets the basic defect in people with cystic fibrosis who carry a G551D mutation or other rarer specific gating mutations. Clinical trials have shown consistent and impressive clinical benefit that appears to be sustained over time in people with cystic fibrosis who carry a G551D mutation and similar benefits have been seen in those who carry rarer gating mutations. Ivacaftor is orally administered twice daily with a dose that does not vary between children aged 6 years through to adult life in patients with G551D. It appears to be well tolerated although there are potential interactions with drugs that are metabolised through CYPP450 CYP3A. Ivacaftor is also currently being trialled in combination with correctors for patients with the most common mutation of cystic fibrosis transmembrane conductance regulator the F508del mutation.
First report of cystic fibrosis mutations in Libyan cystic fibrosis patients
Published in Annals of Human Biology, 2011
Sondess Hadj Fredj, Slaheddine Fattoum, Abdelraouf Chabchoub, Taieb Messaoud
Background: There are few data on the molecular basis of Cystic Fibrosis (CF) in North Africa, probably due to under-diagnosis. Aim: This is the first study of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Libyan population. Subjects and methods: This study analysed the complete coding region and flanking intronic sequences of the CFTR gene in 10 unrelated Libyan CF patients. Results: This study identified four mutations (F508del, c.1670delC, N1303K and E1104X), with a high frequency of the latter. Conclusion: Identification of CF mutations facilitates molecular investigation of cystic fibrosis in the Libyan population and helps to provide effective genetic counselling among CF families.
Cystic fibrosis and physiological responses to exercise
Published in Expert Review of Respiratory Medicine, 2014
Craig A Williams, Zoe L Saynor, Owen W Tomlinson, Alan R Barker
Cardiopulmonary exercise testing is underutilized within the clinical management of patients with cystic fibrosis. But within the last 5 years, there has been considerable interest in its implementation, which has included deliberations by the European Cystic Fibrosis Society about incorporating this method within the clinical assessment of patients. This review examines the current use of cardiopulmonary exercise testing in assessing the extent and cause(s) of exercise limitation from a pediatric perspective. Examples of the measured parameters and their interpretation are provided. Critical synthesis of recent work in the oxygen uptake (VO2) kinetics response to and following exercise is also discussed, and although identified more as a research tool, its utilization advances researchers understanding of the cardiovascular, respiratory and muscular limitations to exercise tolerance. Finally, exercise and its application in therapeutic interventions are highlighted and a number of recommendations made about the utility of exercise prescription.
Related Knowledge Centers
- Airway Obstruction
- Lung Diseases
- Pancreatic Insufficiency
- Sweat Glands
- Lung
- Pancreatic Diseases
- Inborn Genetic Diseases