Results 1 to 10 of about 1,268 (176)

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor [PDF]

International Journal of Neonatal Screening, 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 the CF
Don Sanders, Raksha Jain
exaly   +9 more sources

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors [PDF]

International Journal of Neonatal Screening, 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.
Bradford L Therrell, Samya Nasr, Mei Baker   +2 more
exaly   +6 more sources

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis [PDF]

BMC Pediatrics, 2019
Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e.
Chee Y. Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A. Chilvers, Richard van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R. Durie, Felix Ratjen, Tanja Gonska   +18 more
doaj   +9 more sources

Biological Reference Intervals for 17α-Hydroxyprogesterone Immunoreactive Trypsinogen, and Biotinidase in Indian Newborns [PDF]

BioMed
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 of ...
E Maruthi Prasad
exaly   +5 more sources

Homozygous 896delT (c.764del) in Somali–American Siblings With Cystic Fibrosis [PDF]

Case Reports in Pulmonology
Cystic fibrosis is an autosomal recessive condition historically reported to be predominantly in those of European ancestry; however, more cases of CF are reported in those with non-European ancestry as we improve diagnostic awareness and aptitude.
Disi Chen, Elinor Langfelder-Schwind, Denise Kay, Zafer Soultan   +3 more
doaj   +3 more sources

Elevated newborn serum immunoreactive trypsinogen associated with a congenital pancreatic cyst

Journal of Pediatric Surgery Case Reports, 2021
Congenital abdominal cysts have a broad differential diagnosis. Pancreatic cysts are rare lesions that offer a diagnostic and surgical challenge to surgeons.
Fabio Botelho, Amanda Hall, Hussein Wissanji   +2 more
doaj   +2 more sources

Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates. [PDF]

JIMD Rep, 2012
The IRT screening test for the use in diagnosing newborns with CF has a high sensitivity but is not very specific resulting in a large number of screened positive infants found to have a normal sweat test. The aim of this study was to analyze the differences in b-IRT levels among different groups of newborns positive to NBS.Population data included all
Paracchini V, Seia M, Raimondi S, Costantino L, Capasso P, Porcaro L, Colombo C, Coviello DA, Mariani T, Manzoni E, Sangiovanni M, Corbetta C.   +11 more
europepmc   +4 more sources

The relationship between neonatal immunoreactive trypsinogen, deltaF508, and IVS8-5T. [PDF]

J Med Genet, 2000
Editor—Neonatal screening for cystic fibrosis (CF) involves measurement of neonatal blood spot immunoreactive trypsinogen (IRT),1 followed by gene mutation analysis in those with a raised (>99th centile) immunoreactive trypsinogen (IRT).2 Screening with this IRT/DNA protocol has been shown, from a number of centres, to detect a greater number of ΔF508 ...
Massie J, Du Sart D, Forshaw K, Carlin J, Forrest SM.   +4 more
europepmc   +4 more sources

Case Report: Pitfalls in CF screening – targeted variant analysis can cause misleading results and therapy recommendations [PDF]

Frontiers in Genetics
BackgroundCystic Fibrosis (CF) is primarily diagnosed in Germany through newborn screening (NS) using immunoreactive trypsinogen (IRT)/Pancreatitis-Associated Protein (PAP) measurements and genetic testing for common CFTR gene variants. While this method
Maike Karnstedt, Simone Ahting, Sophie Behrendt, Maike vom Hove, Julia Hentschel   +4 more
doaj   +2 more sources

Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022–2023) [PDF]

International Journal of Neonatal Screening
Cystic fibrosis (CF) is a chronic, autosomal-recessive disorder caused by mutations in the CFTR gene, leading to thickened secretions that affect multiple organ systems.
Nino Vardosanidze, Nani Kavlashvili, Lali Margvelashvili, Oleg Kvlividze, Mikheil Diakonidze, Saba Iordanishvili, Dodo Agladze   +6 more
doaj   +2 more sources