Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review
This study aimed to reveal the spectrum ofCFTR gene mutations in Arab CF patients and their corresponding clinical phenotypes among the 22 Arab countries. We searched four literature databases (PubMed, Science Direct, Web of Science and Scopus) from their times of inception to January 2018. All possible search terms were used to encompass the different clinical phenotypes, disease incidences,CFTR mutations, ages and consanguinity rates of CF patients in the 22 Arab countries. Our search strategy identified 678 articles; of these, 72 were eligible for this systematic review. We retrieved data from 18 Arab countries; only 1766 Arab patients with CF were identified, even after additional searches using Google and Google Scholar. The search uncovered a wide spectrum of mutations, some of which are shared with other ethnic groups and some unique to Arab patients. Although the clinical phenotypes of Arab patients were typical of CF, several distinct phenotypes were reported. Despite the rarity of genetic epidemiological studies of CF patients among the 22 Arab nations, the disease is frequently reported in Arab countries where consanguineous marriage is common. Therefore, significant attention should be paid to this problem by implementing carrier and premarital screening, newborn screening and genetic counselling.
Conditions: Cystic Fibrosis; Inflammation Interventions: Diagnostic Test: Genotyping; Diagnostic Test: Lung function; Diagnostic Test: Microbiology; Diagnostic Test: Blood sample; Diagnostic Test: Induced Sputum Sponsors: University Childrens' Hospital (Zentrum für Kinderheilkunde des Universitätsklinikum Bonn); University Hospital, Frankfurt; Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) Recruiting
Contributors : Janina Treffon ; Diego Chaves-Moreno ; Silke Niemann ; Dietmar H Pieper ; Thomas Vogl ; Johannes Roth ; Barbara C KahlSeries Type : Expression profiling by high throughput sequencingOrganism : Staphylococcus aureusStaphylococcus aureus is one of the earliest pathogens that persists the airways of cystic fibrosis (CF) patients and contributes to increased inflammation and decreased lung function. In contrast to other staphylococci, S. aureus possesses two superoxide dismutases (SODs), SodA and SodM, with SodM being unique to S. aureus. Both SODs arm S. aureus for its fight against oxidative stress, a byproduc...
PMID: 31977412 [PubMed - in process]
Despite our differences, one thing we all have in common is death. One way or another, it's going to get each of us. Jeremie has been forced to meditate on that reality and it's had a profound effect on how he approaches life. In this keynote, Jeremie candidly and openly shares his story about growing up with Cystic Fibrosis and how he found laughter to be key as he shifted his perspective from seeing himself as someone who is dying from a fatal disease to someone who has been given the gift of a shortened life expectancy in order to make the most of it.
Trikafta, a combination of elexacaftor, ivacaftor, and tezacaftor, is a new drug for the treatment of the most common cystic fibrosis mutation.Serious adverse effects include elevated liver enzymes and an increased risk of cataracts.
CONCLUSION: Use of the CFTR modulator lumacaftor/ivacaftor was associated with significantly lower hepatic steatosis. No association between CFRD and hepatic steatosis was found in this cohort. PMID: 31966908 [PubMed]
A BEAMING Harriet Corr holds up her first box of life-saving cystic fibrosis pills, after a year of melting hearts in the Daily Express.
No abstract available
Conclusions: Constipation remains the main cause of rectal prolapse. Cystic fibrosis is no longer a common etiology for rectal prolapse, because of the implementation of newborn screening. Patients with social stressors or atypical behavior may be at risk for recurrent rectal prolapse.
Hemoptysis is a well-known complication in people with cystic fibrosis (CF), which occurs in approximately 9% of CF individuals over a 5-year time period . However, catamenial hemoptysis, expectoration of blood that coincides with menstruation, can be a unique manifestation in women with CF. Catamenial hemoptysis can be associated with thoracic endometriosis syndrome, (TES) which is estimated to occur in less than 6% of the general female population . Studies examining catamenial hemoptysis in CF are limited.