Zobrazeno 1 - 10
of 529
pro vyhledávání: '"immunoreactive trypsinogen"'
Publikováno v:
BioMed, Vol 4, Iss 3, Pp 268-276 (2024)
Neonatal deaths, which usually occur in the first week after delivery, account for nearly 75 percent of all deaths of children under 5 years of age. Prematurity, birth difficulties, infections, and birth defects are responsible for about 40 percent o
Externí odkaz:
https://doaj.org/article/bce76ddf30ac4bbab1491f5b190aa9e5
Autor:
Andrea Xue, István Lénárt, Judit Kincs, Hajnalka Szabó, Andrea Párniczky, István Balogh, Anna Deák, Péter Béla Monostori, Krisztina Hegedűs, Attila J. Szabó, Ildikó Szatmári
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 47 (2023)
The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated prote
Externí odkaz:
https://doaj.org/article/33e10d86ad0c4f319a9b3710cff1f77c
Akademický článek
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Akademický článek
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Autor:
Ayberk Turkyilmaz, Oguzhan Yarali
Publikováno v:
Medicine Science, Vol 10, Iss 2, Pp 293-8 (2021)
Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common monogenic disease. The present study aimed to investigate CFTR gene variations i
Externí odkaz:
https://doaj.org/article/86422834145d465d95a495bf219a34a1
Autor:
Payal Patel, Jana Yeley, Cynthia Brown, Melissa Wesson, Barbara G. Lesko, James E. Slaven, James F. Chmiel, Raksha Jain, Don B. Sanders
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 10 (2023)
Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to th
Externí odkaz:
https://doaj.org/article/9df5e059336346fd915532b702d71ef3
Autor:
Matteo Botti, Vito Terlizzi, Michela Francalanci, Daniela Dolce, Maria Chiara Cavicchi, Anna Silvia Neri, Valeria Galici, Gianfranco Mergni, Lucia Zavataro, Claudia Centrone, Filippo Festini, Giovanni Taccetti
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Abstract Background Cystic fibrosis (CF) is a life-threatening disease affecting about 1:3000 newborns in Caucasian populations. The introduction of newborn screening for cystic fibrosis (CF NBS) has improved the clinical outcomes of individuals with
Externí odkaz:
https://doaj.org/article/2cd82b90d17544b1ba359d6a11113bc5
Autor:
Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 58 (2022)
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels bel
Externí odkaz:
https://doaj.org/article/304dd445b57e49f2992e15dc0f65b32c
Akademický článek
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Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Multiple studies undertaken on cord blood demonstrate analyte perturbations in infants exposed to gestational diabetes mellitus (GDM). Cord blood as a sample is influenced by maternal and placental metabolism. Newborn screening (NBS), perfor
Externí odkaz:
https://doaj.org/article/4a66357ed4bd4b51b97df110b83e583b