Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8260" target="_blank" >RIV/00064203:_____/12:8260 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11130/12:8260 RIV/00064173:_____/12:43902670 RIV/00216208:11120/12:43902670
Výsledek na webu
<a href="http://dx.doi.org/10.1007/s00431-012-1747-z" target="_blank" >http://dx.doi.org/10.1007/s00431-012-1747-z</a>
DOI - Digital Object Identifier
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Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Popis výsledku v původním jazyce
Cystic fibrosis (CF) is a life-threatening disease for which early diagnosis following newborn screening (NBS) improves the prognosis. We performed a prospective assessment of the immunoreactive trypsinogen (IRT)/DNA/IRT protocol currently in use nationwide, versus the IRT/pancreatitis-associated protein (PAP) and IRT/PAP/DNA CF NBS protocols. Dried blood spots (DBS) from 106,522 Czech newborns were examined for IRT concentrations. In the IRT/DNA/IRT protocol, DNA-testing was performed for IRT a parts per thousand yenaEuro parts per thousand 65 ng/mL. Newborns with IRT a parts per thousand yenaEuro parts per thousand 200 ng/mL and no detected cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations were recalled for a repeat IRT. In the same group of newborns, for both parallel protocols, PAP was measured in DBS with IRT a parts per thousand yenaEuro parts per thousand 50 ng/mL. In PAP-positive newborns (i.e., a parts per thousand yen1.8 if IRT 50-99.9 or a parts per t
Název v anglickém jazyce
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Popis výsledku anglicky
Cystic fibrosis (CF) is a life-threatening disease for which early diagnosis following newborn screening (NBS) improves the prognosis. We performed a prospective assessment of the immunoreactive trypsinogen (IRT)/DNA/IRT protocol currently in use nationwide, versus the IRT/pancreatitis-associated protein (PAP) and IRT/PAP/DNA CF NBS protocols. Dried blood spots (DBS) from 106,522 Czech newborns were examined for IRT concentrations. In the IRT/DNA/IRT protocol, DNA-testing was performed for IRT a parts per thousand yenaEuro parts per thousand 65 ng/mL. Newborns with IRT a parts per thousand yenaEuro parts per thousand 200 ng/mL and no detected cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations were recalled for a repeat IRT. In the same group of newborns, for both parallel protocols, PAP was measured in DBS with IRT a parts per thousand yenaEuro parts per thousand 50 ng/mL. In PAP-positive newborns (i.e., a parts per thousand yen1.8 if IRT 50-99.9 or a parts per t
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
FG - Pediatrie
OECD FORD obor
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Návaznosti výsledku
Projekt
<a href="/cs/project/NS9986" target="_blank" >NS9986: Optimalizace novorozeneckého screeningu cystické fibrózy.</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2012
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
European Journal of Pediatrics
ISSN
0340-6199
e-ISSN
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Svazek periodika
171
Číslo periodika v rámci svazku
8
Stát vydavatele periodika
DE - Spolková republika Německo
Počet stran výsledku
7
Strana od-do
1223-1229
Kód UT WoS článku
000306682100011
EID výsledku v databázi Scopus
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