Primary nasal epithelial cells from patients with cystic fibrosis hold promise for guiding precision medicine and expanding treatment

In recent years, improving treatments for cystic fibrosis (CF) have dramatically enhanced the longevity and quality of life for people with CF. The pathogenesis of CF has been well characterised and has been directly linked to a dysfunctional chloride channel termed the cystic fibrosis transmembrane conductance regulator (CFTR), which is predominately found in epithelial tissue layers [1]. Until recently, most treatments for CF have focused on supportive care including enhanced airway clearance therapies, improved nutritional support, management of CF sequelae such as CF-related diabetes and liver disease, and/or treatment of pulmonary exacerbations with antibiotics [2]. These interventions have significantly improved life expectancy for people with CF, yet they do not address the underlying cause of the disease [3]. Since the identification of the CFTR gene,>2000 mutations have been identified, with at least 300 variants now known to be disease causing [4]. The most common mutation is the F508del variant, which in the homozygous situation leads to classical multi-systemic manifestations of CF. Importantly, additional disease-causing variants, either in combination with F508del or other significant disease-causing variants, contribute to the diversity of disease presentation, severity and outcomes. Significant progress in characterising the molecular consequences of CTFR mutations in recent years has led to the development of a classification system that correlates CFTR mu...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research

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AbstractPurposeTo describe the clinical course of COVID-19 in patients with cystic fibrosis (CF) and to identify risk factors for severe COVID-19.MethodsWe conducted a prospective study within the Italian CF Society. CF centers collected baseline and follow-up data of patients with virologically confirmed SARS-CoV-2 infection between March 2020 and June 2021. Odds ratios (ORs) for severe SARS-CoV-2 (as defined by hospital admission) were estimated by logistic regression models.ResultsThe study included 236 patients with positive molecular test for SARS-CoV-2. Six patients died, 43 patients were admitted to hospital, 4 admi...
Source: Infection - Category: Infectious Diseases Source Type: research
Genes, Vol. 11, Pages 1137: Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients Genes doi: 10.3390/genes11101137 Authors: Nika V. Petrova Nataliya Y. Kashirskaya Stanislav A. Krasovskiy Elena L. Amelina Elena I. Kondratyeva Andrey V. Marakhonov Tatyana A. Vasilyeva Anna Y. Voronkova Victoria D. Sherman Evgeny K. Ginter Sergey I. Kutsev Rena A. Zinchenko The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestat...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
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]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
In individuals with cystic fibrosis (CF), severe pulmonary or liver disease is frequently addressed with lung or liver transplant, respectively. Specific endocrine co-morbidities including diabetes mellitus, osteoporosis, and adrenal insufficiency accompany solid organ transplant and may be particularly problematic in individuals with CF, who are already at increased risk of diabetes and compromised bone health. Diabetes and osteoporosis screening and initiation of appropriate preventive measures are recommended prior to transplant.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research
Smith Etareri Evivie1,2†, Amro Abdelazez1,3, Bailiang Li1†, Xin Bian4, Wan Li1, Jincheng Du1, Guicheng Huo1* and Fei Liu1 1Key Laboratory of Dairy Science, Ministry of Education, College of Food Sciences, Northeast Agricultural University, Harbin, China 2Food Science and Nutrition Unit, Department of Animal Science, Faculty of Agriculture, University of Benin, Benin City, Nigeria 3Department of Dairy Microbiology, Animal Production Research Institute, Agriculture Research Center, Giza, Egypt 4Department of Food Engineering, Harbin University of Commerce, Harbin, China Foodborne pathogens are a ma...
Source: Frontiers in Microbiology - Category: Microbiology Source Type: research
In this study, the median age at LT for CFLD was 15.7 years. Notably, 10 of 13 (77%) CF explants had>5% steatosis and 8 of 13 (61.5%) demonstrated variable fibrosis. The median age, sex, type of transplant (liver vs liver-lung), pancreatic insufficiency status, body mass index (BMI) percentile, genotype, and prevalence of diabetes were comparable in those with and without explant steatosis. More than half of allograft biopsies showed significant steatosis (17/31, 54.8%) and lobular inflammation (16/31, 51.6%). Hepatocyte ballooning was less frequent (5/31, 16.1%). Overall, 6 patients (46.2%) had allograft steatosis that...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance regulator. Located systemically on the surface of numerous cells, these altered channels yield multisystem dysfunction. Typical manifestations seen are chronic, progressive, obstructive lung disease, pancreatic insufficiency, CF-related diabetes mellitus, malabsorption and malnutrition, liver disease, and infertility.
Source: Journal of Pediatric Health Care - Category: Pediatrics Authors: Tags: Article Source Type: research
Conclusions: PAM and PHBQ have satisfactory face and content validity for evaluating digital consulting to warrant proceeding to psychometric evaluation. Completion instructions require revision to differentiate between digital and face-to-face consultations.
Source: Journal of Medical Internet Research - Category: General Medicine Authors: Source Type: research
This article is protected by copyright. All rights reserved. PMID: 29700855 [PubMed - as supplied by publisher]
Source: Clinical Lung Cancer - Category: Cancer & Oncology Authors: Tags: Clin Transplant Source Type: research
Funding Opportunity PA-18-741 from the NIH Guide for Grants and Contracts. This Funding Opportunity Announcement (FOA) encourages R21 applications that propose to conduct secondary analyses of existing data sets relevant to diabetes and selected endocrine and metabolic diseases including thyroid, parathyroid and Cushings diseases and acromegaly; and genetic metabolic disease including cystic fibrosis, lysosomal storage diseases, and disorders of the urea cycle, amino acid metabolism and metal transport where the focus is on peripheral metabolism or organ function; obesity, liver diseases, alimentary GI tract diseases and ...
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
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