About: Optimalization of newborn screening of cystic fibrosis     Goto   Sponge   NotDistinct   Permalink

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Description
  • Newborn screening for cystic fibrosis (NSCF) is based on examination of concentration of imunoreactive trypsinogen (IRT) and DNA analysis of CFTR gene in blood spots on screening cards. DNA analysis could be replaced with pancreatitis associated protein (PAP). The major aim of this study is to compare IRT/PAP scheme with new designed IRT/PAP/DNA scheme from the point of specifity, sensitivity and cost-benefit effectivity. The outcomes of this project will be decision about optimal routine NSCF scheme in the Czech Republic. (en)
  • Novorozenecký screening (NS) cystické fibrózy (CF) je založen na měření koncetrace imunoreaktivního trypsinogenu (IRT) a DNA analýze genu CFTR pro CF v suchých kapkách krve. DNA analýzu lze nahradit stanovením proteinu spojeného s pankreatitidou (%22pancreatitis associated protein%22, PAP). Budou porovnány modely IRT/PAP a nově navrhovaný model IRT/PAP/DNA z hlediska účinnosti, specifity, senzitivity a ekonomiky. Výstup projektu by se měl stát podkladem pro rozhodnutí o volbě optimálního modelu NS CF v ČR.
Title
  • Optimalization of newborn screening of cystic fibrosis (en)
  • Optimalizace novorozeneckého screeningu cystické fibrózy.
skos:notation
  • NS9986
http://linked.open...avai/cep/aktivita
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http://linked.open...ep/celkoveNaklady
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http://linked.open...hodnoceniProjektu
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http://linked.open.../cep/klicovaSlova
  • cystic; fibrosis; newborn; screening; genotyping; CFTR; IRT; PAP (en)
http://linked.open...ep/partnetrHlavni
http://linked.open...inujicichPrijemcu
http://linked.open...cep/pocetPrijemcu
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  • Testovaný model novorozeneckého screeningu cystické fibrózy IRT/PAP není vhodný pro vysokou falešnou negativitu a vysokou frekvenci potních testů. Nejlepší parametry vykazuje model IRT/PAP/DNA se sníženými cutoff hodnotami PAP. (cs)
  • The tested model of neonatal screening for cystic fibrosis IRT/PAP is not suitable for high false negativity and a high frequency of sweat tests. The IRT/PAP/DNA model with reduced cutoff values of PAP shows the best performance metrics. (en)
http://linked.open...tniCyklusProjektu
http://linked.open.../cep/klicoveSlovo
  • screening
  • CFTR
  • IRT
  • fibrosis
  • genotyping
  • newborn
  • cystic
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