Results 21 to 30 of about 1,268 (176)

Variation in immunoreactive trypsinogen concentrations among michigan newborns and implications for cystic fibrosis newborn screening [PDF]

Pediatric Pulmonology, 2010
AbstractObjectiveTo investigate variation in immunoreactive trypsinogen (IRT) concentrations by race, sex, birth weight, and gestational age and their implications for the use of percentile‐based cutoffs for cystic fibrosis (CF) newborn screening (NBS) programs.Patients and MethodsThis cross‐sectional population‐based study of resident infants screened
Steven J, Korzeniewski, William I, Young, Harry C, Hawkins, Kevin, Cavanagh, Samya Z, Nasr, Carrie, Langbo, Kelly R, Teneyck, Scott D, Grosse, Mary, Kleyn, Violanda, Grigorescu   +9 more
openaire   +4 more sources

Evaluating CRMS/CFSPID phenotypes and outcomes: A retrospective study from a large UK cystic fibrosis centre [PDF]

Heliyon
Background: Cystic fibrosis transmembrane conductance regulator metabolic syndrome/cystic fibrosis screen-positive, inconclusive diagnosis (CRMS/CFSPID) is a designation given following a positive newborn screen for cystic fibrosis (CF) when CF is not ...
Alison Mansfield, Christopher Hine, Prasad Nagakumar, Benjamin Davies, Maya Desai   +4 more
doaj   +2 more sources

Factors Affecting Immunoreactive Trypsinogen Levels in Cystic Fibrosis Newborn Screening [PDF]

Clinical problems
Objective: Cystic fibrosis (CF) is a genetic disorder associated with high morbidity and mortality. Elevated immunoreactive trypsinogen (IRT) levels are used for CF newborn screening (NBS). This study aims to identify factors contributing to elevated IRT levels.
Handan Kekec, Tugba Sismanlar Eyuboglu, Ayse Tana Aslan, Volkan Medeni, Bahar Cuhacı Cakır   +4 more
openaire   +3 more sources

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital [PDF]

BMJ Public Health
Introduction Newborn screening (NBS) is an essential public health initiative for early diagnosis of inborn errors of metabolism (IEM), where timely intervention can reduce morbidity and mortality.
Manju Hosuru Chikkalingaiah, Supriya Bevinakoppamath, Surajj S Archana, Aishwarya Kapa, Swetha N Kempegowda, Kusuma K Shivashankar, Shobha C Ramachandra, Suma K Basavarajaiah, Suma Nataraj, Akila Prashant   +9 more
doaj   +2 more sources

Immunoreactive trypsinogen concentrations in infants with meconium ileus. [PDF]

BMJ, 1991
J G Docherty, J A Coutts, T J Evans, R Carachi   +3 more
openaire   +3 more sources

A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population? [PDF]

Pediatr Pulmonol
ABSTRACT Background Early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) programs has improved health outcomes in people with CF (pwCF). NBS programs can vary in specific protocols and genetic variants tested, which may not perform equitably for all infants. The objective of this study was to summarize the Canadian CF NBS programs to
Cheng SY, Sahin B, Abdulrahem N, Eckford PDW, Zysman-Colman Z, Chilvers M, Stephenson AL, Arpin J, Donnelly C, Doyle K, Fernandez S, Filiaggi C, Liu Z, Nowak A, Smith MJ, Stanojevic S.   +15 more
europepmc   +2 more sources

Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey

Medicine Science, 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.
Ayberk Turkyilmaz, Oguzhan Yarali
doaj   +1 more source

Impact of Elexacaftor/Tezacaftor/Ivacaftor on Fecal Elastase-1 in Children With Cystic Fibrosis. [PDF]

Pediatr Pulmonol
ABSTRACT Background Prior studies have documented improvement in pancreatic status after ivacaftor and lumacaftor/ivacaftor in a small number of patients with cystic fibrosis (CF). There is paucity of data with similar improvement after initiation of elexacaftor/tezacaftor/ivacaftor (ETI).
Sankararaman S, Prunty L, Pamer C, Thavamani A, Roesch E, Schindler T.   +5 more
europepmc   +2 more sources

Development of mutant human immunoreactive trypsinogen 1 (IRT1) and mutant human immunoreactive trypsinogen 2 (IRT2) for use in immunoassays

Protein Expression and Purification, 2020
Immunoreactive Trypsinogen (IRT) is a protein-based pancreatic proenzyme that has an important role in protein digestion in humans. In human body, once IRT present in the small intestine, the proteolytic cleavage activates trypsinogen into trypsin. When IRT is in the active form, it is capable to cleave antibodies, other proteins and even itself while ...
Divyapicigil, Mustafa, Gokturk, Serife Seyda Pirincci, Ergenoglu, Bengu, Yucel, Fatima, Akcael, Esin Aslankaraoglu   +4 more
openaire   +3 more sources

Differences in Newborn Screening Results Among Women with Gestational Diabetes Mellitus

Journal of Inborn Errors of Metabolism and Screening, 2021
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), performed after the
Jane Estrella, Veronica Wiley, Jincy Immanuel, David Simmons   +3 more
doaj   +1 more source