Literature DB >> 21658643

New clinical diagnostic procedures for cystic fibrosis in Europe.

K De Boeck1, N Derichs, I Fajac, H R de Jonge, I Bronsveld, I Sermet, F Vermeulen, D N Sheppard, H Cuppens, M Hug, P Melotti, P G Middleton, M Wilschanski.   

Abstract

In the majority of cases, there is no difficulty in diagnosing Cystic Fibrosis (CF). However, there may be wide variation in signs and symptoms between individuals which encourage the scientific community to constantly improve the diagnostic tests available and develop better methods to come to a final diagnosis in patients with milder phenotypes. This paper is the result of discussions held at meetings of the European Cystic Fibrosis Society Diagnostic Network supported by EuroCareCF. CFTR bioassays in the nasal epithelium (nasal potential difference measurements) and the rectal mucosa (intestinal current measurements) are discussed in detail including efforts to standardize the techniques across Europe. New approaches to evaluate the sweat gland, future of genetic testing and methods on the horizon like CFTR expression in human leucocytes and erythrocytes are discussed briefly.
Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

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Year:  2011        PMID: 21658643     DOI: 10.1016/S1569-1993(11)60009-X

Source DB:  PubMed          Journal:  J Cyst Fibros        ISSN: 1569-1993            Impact factor:   5.482


  22 in total

1.  Rescue of epithelial HCO3- secretion in murine intestine by apical membrane expression of the cystic fibrosis transmembrane conductance regulator mutant F508del.

Authors:  Fang Xiao; Junhua Li; Anurag Kumar Singh; Brigitte Riederer; Jiang Wang; Ayesha Sultan; Henry Park; Min Goo Lee; Georg Lamprecht; Bob J Scholte; Hugo R De Jonge; Ursula Seidler
Journal:  J Physiol       Date:  2012-07-16       Impact factor: 5.182

2.  Australasian Guideline (2nd Edition): an Annex to the CLSI and UK Guidelines for the Performance of the Sweat Test for the Diagnosis of Cystic Fibrosis.

Authors:  John Massie; Ronda Greaves; Michael Metz; Veronica Wiley; Peter Graham; Samantha Shepherd; Richard Mackay
Journal:  Clin Biochem Rev       Date:  2017-11

3.  Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis.

Authors:  Flor Vásquez Sotomayor; Hugo Hernán Abarca-Barriga
Journal:  J Pediatr Genet       Date:  2019-02-13

4.  [Cystic fibrosis and associated complications].

Authors:  C Schwarz; D Staab
Journal:  Internist (Berl)       Date:  2015-03       Impact factor: 0.743

5.  A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T.

Authors:  Ahmet Burak Arslan; Ayşe Gül Zamani; Sevgi Pekcan; Mahmut Selman Yıldırım
Journal:  J Pediatr Genet       Date:  2019-08-28

6.  A functional CFTR assay using primary cystic fibrosis intestinal organoids.

Authors:  Johanna F Dekkers; Caroline L Wiegerinck; Hugo R de Jonge; Inez Bronsveld; Hettie M Janssens; Karin M de Winter-de Groot; Arianne M Brandsma; Nienke W M de Jong; Marcel J C Bijvelds; Bob J Scholte; Edward E S Nieuwenhuis; Stieneke van den Brink; Hans Clevers; Cornelis K van der Ent; Sabine Middendorp; Jeffrey M Beekman
Journal:  Nat Med       Date:  2013-06-02       Impact factor: 53.440

Review 7.  Managing the underlying cause of cystic fibrosis: a future role for potentiators and correctors.

Authors:  Luis J V Galietta
Journal:  Paediatr Drugs       Date:  2013-10       Impact factor: 3.022

Review 8.  Pharmacogenomics with red cells: a model to study protein variants of drug transporter genes.

Authors:  Willy Albert Flegel; Kshitij Srivastava; Tristan Michael Sissung; Barry Ronald Goldspiel; William Douglas Figg
Journal:  Vox Sang       Date:  2020-09-30       Impact factor: 2.996

9.  Comparison of microbiomes from different niches of upper and lower airways in children and adolescents with cystic fibrosis.

Authors:  Sébastien Boutin; Simon Y Graeber; Michael Weitnauer; Jessica Panitz; Mirjam Stahl; Diana Clausznitzer; Lars Kaderali; Gisli Einarsson; Michael M Tunney; J Stuart Elborn; Marcus A Mall; Alexander H Dalpke
Journal:  PLoS One       Date:  2015-01-28       Impact factor: 3.240

10.  Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation.

Authors:  Daniela De Stefano; Valeria R Villella; Speranza Esposito; Antonella Tosco; Angela Sepe; Fabiola De Gregorio; Laura Salvadori; Rosa Grassia; Carlo A Leone; Giuseppe De Rosa; Maria C Maiuri; Massimo Pettoello-Mantovani; Stefano Guido; Anna Bossi; Anna Zolin; Andrea Venerando; Lorenzo A Pinna; Anil Mehta; Gianni Bona; Guido Kroemer; Luigi Maiuri; Valeria Raia
Journal:  Autophagy       Date:  2014       Impact factor: 16.016

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