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955 (0,097s) •

Project

Epidemiological study of the importance and effectivity of postnatal ultrasound screening examination of kidney in newborns (NR9512)

The aim is to demonstrate the effectiveness of timely diagnosis of postnatal investigation of the kidney in newborns and its importance for the diagnosis and treatment of inborn errors of the uropoetic tract.......

FQ - Veřejné zdravotnictví, sociální lékařství

  • 2007 - 2009
    • •
  • 1 782 tis. Kč
    • •
  • 1 777 tis. Kč
    • •
  • MZ
Project

Improvement of care for patients with cystic fibrosis by early and efficient diagnosis via two-tier neonatal screening programme (1A8236)

The aim is to assess the efectivity of newborn screening for cystic fibrosis in the condition of Czech Republic....

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2004 - 2006
    • •
  • 6 193 tis. Kč
    • •
  • 6 182 tis. Kč
    • •
  • MZ
Project

Optimalization of newborn screening of cystic fibrosis (NS9986)

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 p...

FG - Pediatrie

  • 2008 - 2011
    • •
  • 10 604 tis. Kč
    • •
  • 10 597 tis. Kč
    • •
  • MZ
Project

Optimalization of Laboratory Newborn Screening of Inherited Metabolic Disorders (NT12213)

In this project we will evaluate in a pilot phase the efficacy of newborn screening program for 20 additional inborn errors of metabolism (IEM) using) for second-tier determination of selected markers. We will focus on screening...

FG - Pediatrie

  • 2011 - 2013
    • •
  • 7 056 tis. Kč
    • •
  • 7 056 tis. Kč
    • •
  • MZ
Project

Vitamin B12 deficiency in mothers and children (NU22-07-00126)

selective screening in women at high risk to whole population newborn screening (NBS/lactating women, and their breastfed newborns. Our previous study showed that B12 to conduct two crossectional studies of B12 de...

Paediatrics

  • 2022 - 2025
    • •
  • 11 845 tis. Kč
    • •
  • 10 974 tis. Kč
    • •
  • MZ
Project

Screening of familial ligand-defective apo B-100 from dried blood spots of newborns. (IZ4382)

To determine the frequency of FDB (mutation R3500Q in apo B gene) in Czech population. To identify affected individuals from blood spots within newborns screening. To suggest a complex of therapeutio-preventive measures with respect...

FA - Kardiovaskulární nemoci včetně kardiochirurgie

  • 1997 - 1999
    • •
  • 4 789 tis. Kč
    • •
  • 3 001 tis. Kč
    • •
  • MZ
Project

The Assesment of Effectivity of the Neonatal Screening for Congenital Adrenal hyperplasia in the Czech republic. (NE6133)

The assement of effectivity of the neonatal screening for congenital adrenal hyperplasia in the conditions of the Czech Republic,The screening is based on the measurement of the level of 17-alfa-hydroxyprogesterone in the dried bloo...

FG - Pediatrie

  • 2000 - 2002
    • •
  • 3 262 tis. Kč
    • •
  • 3 262 tis. Kč
    • •
  • MZ
Project

Analysis of CYP21 genes in newborns with mild elevated 17-hydroxyprogesterone level. (NS9981)

The aim of this project is to analyse 21-hydroxylase genotypes in newborns with mild elevated 17-hydroxyprogesteron concentration in newborn screeening (NS) for congenital adrenal hyperplasia (CAH) and to verify the hypothesis, that...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2008 - 2011
    • •
  • 2 729 tis. Kč
    • •
  • 2 722 tis. Kč
    • •
  • MZ
Project

Investigation of Hearing Impairement in Newborns by Transiently Evoked Otoacoustic Emissions /TEOAE/ (IZ3937)

Purport of the project is to compile a diagnostic and medical-preventive screening programme of hearing impairement using TEOAE in the early neonatal period, applicable for the whole population.......

FF - ORL, oftalmologie, stomatologie

  • 1997 - 1999
    • •
  • 3 926 tis. Kč
    • •
  • 2 903 tis. Kč
    • •
  • MZ
Project

Frequency of the G985 MACD mutation in the Czech population and in sudden infant death syndrome. (IZ4379)

To introduce the direct DNA disgnostics of G985 mutation from a dry blood spots of screened newborns,to establish the frequency of the mutation mentioned in our population. To determine the percentage with which G985 mutation shares...

FG - Pediatrie

  • 1997 - 1999
    • •
  • 3 102 tis. Kč
    • •
  • 2 032 tis. Kč
    • •
  • MZ
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