About: Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	A significant number of children have symptoms suggestive of cystic fibrosis (CF) but cannot be definitively diagnosed because they have a sweat chloride level in the intermediate range, between 30 and 60 mmol/L, and only one or no identified CF-causing mutation. Our collaborative international study in children in this equivocal situation found that those with nasal potential difference results in the CF range were significantly younger at evaluation, had significantly more frequent symptoms consistent with CF lung disease, and were subsequently found to carry two cystic fibrosis transmembrane conductance regulator (CFTR) mutations more often. Evaluation of CFTR function in the nasal epithelium of children with inconclusive CF diagnoses can be a useful diagnostic tool and help clinicians to individualize therapeutic strategy. A significant number of children have symptoms suggestive of cystic fibrosis (CF) but cannot be definitively diagnosed because they have a sweat chloride level in the intermediate range, between 30 and 60 mmol/L, and only one or no identified CF-causing mutation. Our collaborative international study in children in this equivocal situation found that those with nasal potential difference results in the CF range were significantly younger at evaluation, had significantly more frequent symptoms consistent with CF lung disease, and were subsequently found to carry two cystic fibrosis transmembrane conductance regulator (CFTR) mutations more often. Evaluation of CFTR function in the nasal epithelium of children with inconclusive CF diagnoses can be a useful diagnostic tool and help clinicians to individualize therapeutic strategy. (en)
Title	Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport (en)
skos:prefLabel	Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport (en)
skos:notation	RIV/00064203:_____/10:6321!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Vávrová, Věra Macek jr., Milan Skalická, Veronika
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	250961
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6321
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	cystic fibrosis transmembrane conductance regulator (CFTR); cystic fibrosis; nasal potential difference; CFTR-related disorders; transmembrane regulator gene; nonclassic cystic-fibrosis; cftr-related diseases; potential difference; mutations; rearrangements; mechanisms; consensus; adults (en)
http://linked.open.../riv/klicoveSlovo	adults mutations consensus cystic fibrosis mechanisms rearrangements CFTR-related disorders nasal potential difference cftr-related diseases cystic fibrosis transmembrane conductance regulator (CFTR) nonclassic cystic-fibrosis potential difference transmembrane regulator gene
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[88A55DC818DD]
http://linked.open...i/riv/nazevZdroje	American Journal of Respiratory and Critical Care Medicine
http://linked.open...in/vavai/riv/obor	FC
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	22 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	182
http://linked.open...iv/tvurceVysledku	Macek jr., Milan Sermet-Gaudelus, I. Vávrová, Věra Skalická, Veronika Girodon, E. Munck, A. Bellon, G. Bienvenu, T. Bui, S. Deneuville, E. Edelman, A. Fajac, I. Huet, F. Iron, A. Lebourgeois, M. Lenoir, G. Reix, P. Roussel, D. Roussey, M. Sands, D. Sarles, J. Stremmler, N.
http://linked.open...ain/vavai/riv/wos	000282673200013
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1073-449X
number of pages	8 (xsd:int)

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 58 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software