The diagnosis of mild cystic fibrosis is first suspected on mild lung disease or absence of pancreatic insufficiency and is assessed by biological analysis. The sweat test is not always conclusive. The nasal potential difference and molecular analysis of CFTR gene allow confirming diagnosis. A regular follow-up in cystic fibrosis clinical centre is essential all life long. The genotype, especially during neonatal period, cannot be used to predict individually the course of the disease. Genetic counselling must be recommended to the parents in order to propose an analysis of CFTR gene to give the appropriate genetic counselling and to consider with them which family members could be concerned, especially in the event of parental project. The research of heterozygote status in related for prenatal diagnosis is not recommended for all mutations.
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http://dx.doi.org/10.1016/j.arcped.2008.12.008 | DOI Listing |
J Cyst Fibros
January 2025
Medical University of Innsbruck, Austria, Medical Research Affiliate, Austria.
Pancreatic insufficiency is a major complication of cystic fibrosis (CF), which traditionally has been managed with pancreatic enzyme replacement therapy in the vast majority of CF patients, even in the era of highly effective cystic fibrosis transmembrane conductance regulator modulator (CFTRm) therapy. We report on a 1.7 year old male infant with CF who was exposed to ETI both in utero and postpartum, via breast milk and oral granules.
View Article and Find Full Text PDFJ Cyst Fibros
January 2025
Department of Pediatrics, University of Pittsburgh School Of Medicine, USA.
Background: Males with cystic fibrosis (MwCF) face general and disease-specific sexual and reproductive health (SRH) concerns. Using concept mapping (CM), this study identified the SRH topics valued by members of the CF community.
Methods: MwCF 18 years and older, parents and partners of MwCF, and healthcare providers participated in an online CM study.
Int J Pediatr Otorhinolaryngol
January 2025
Department of Otorhinolaryngology and Head and Neck Surgery, Antwerp University Hospital, Edegem, Belgium; Department of Translational Neuroscience, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. Electronic address:
Purpose: Cystic fibrosis (CF) is the most common autosomal recessive disorder in the Caucasian population. Otolaryngological manifestations pose a significant impact on the quality of life of children with CF. The primary aim of this review is to provide a state of the art update of current literature on the otolaryngological manifestations of CF in children.
View Article and Find Full Text PDFRedox Biol
January 2025
Department of Pediatrics, Division of Neonatology, Loma Linda University School of Medicine, Loma Linda, CA, USA; Lawrence D. Longo, MD Center for Perinatal Biology, Loma Linda University School of Medicine, Loma Linda, CA, USA. Electronic address:
Repeated use of nitroglycerin results in a loss of its vasodilatory efficacy which limits its clinical use for the treatment of angina pectoris. This tolerance phenomenon is a defining characteristic of all compounds classified as nitrodilators, which includes NTG as well as S-nitrosothiols and dinitrosyl iron complexes. These compounds vasodilate via activation of soluble guanylate cyclase, although they do not release requisite amounts of free nitric oxide (NO) and some do not even cross the plasma membrane.
View Article and Find Full Text PDFJ Bras Pneumol
January 2025
. Programa de Pós-Graduação em Ciências Pneumológicas, Universidade Federal do Rio Grande do Sul - UFRGS - Porto Alegre (RS) Brasil.
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