Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing
ConclusionsThe present protocol based on the entire CFTR gene together with informative SNPs outside and inside the gene can be applied to diagnose all CF mutations at preimplantation stage.
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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.
This study sought to evaluate the EFA profile in both the plasma and erythrocyte membrane according to lung status by comparing CF patients with or without a lung transplant.A total of 50 homozygous F508del patients (33 CF patients [CF group] and 17 CF patients with a lung transplant [TX CF group]) were included. In comparison with the CF group, in the plasma, the levels of total n-3, α-linolenic, eicosapentaenoic, and docosahexaenoic acids were higher and the n-6/n-3 ratio was lower in the TX CF group. Yet, these differences were not observed in the erythrocyte membrane. This study supports that lung transplantation...
ConclusionsThis systematic review and meta-analysis found good evidence for reduced antioxidant capacity and elevated oxidative stress in people with clinically-stable CF.Graphical abstract
Publication date: Available online 22 January 2020Source: Genes &DiseasesAuthor(s): Anuj Gupta, Ankita Gupta, Larissa Boyd
In this study, it is aimed to restrain its proteolytic activity with K23D mutation, which changes lysine (K) residue at the 23rd position to aspartic acid (D). Because we wanted to produce a hassle-free human recombinant immune reactive trypsinogen proenzyme which has similar antigenic properties with the native form. It is also aimed that the mutant IRTs do not exhibit proteolytic activity for the development of durable detection kits with a longer shelf life for both two isoforms. The innovation was actualized in order to use IRTs as a standard antigen in Immunoassays such as ELISA kits. The gene was synthesized as mutat...
Neither ppFEV1 change nor pulmonary exacerbation rate over 48 weeks were statistically different between ataluren and placebo groups. Development of a nonsense-mutation CF therapy remains elusive.
Nontuberculous mycobacteria (NTM) are ubiquitous in the environment, especially in soil and potable water, with reported NTM detection rates of 6 –22 cases per 100,000 general population [1–3]. Advances in rapid identification of NTM at the genomic level, and understanding of species-specific pathology and morbidity, have contributed to earlier and definitive diagnosis, and guidelines advocated by the American Thoracic Society (ATS) and I nfectious Diseases Society of America help determine clinical significance and treatment of NTM-related pulmonary disease (NTM-PD) .
Cystic fibrosis (CF) is a recessive genetic disease resulting from mutations in the CF transmembrane conductance regulator (CFTR) gene. Despite marked improvements in CF treatment, pulmonary disease remains the main cause of morbidity and mortality.
Chronic rhinosinusitis (CRS) is present in up to 100% of patients with cystic fibrosis (CF). CF-associated CRS is particularly recalcitrant, and sinus disease can have important implications in the health of the lower airways and overall quality of life in these patients. Both medical and surgical management play important roles in treating CF-associated CRS, but guidelines are lacking. This review summarizes the current literature on both medical and surgical management of this disease to provide an up-to-date analysis and recommendations on the treatment of CF-associated CRS.