Results 51 to 60 of about 1,268 (176)

Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests [PDF]

Genetics in Medicine, 2005
Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking.We evaluated characteristics of the immunoreactive trypsinogen (IRT) test using the published data. The probability that a neonate has a positive IRT test, if the neonate is affected,
Shuji, Ogino, Pamela, Flodman, Robert B, Wilson, Bert, Gold, Wayne W, Grody   +4 more
openaire   +2 more sources

Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present

Italian Journal of Pediatrics, 2021
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 CF through ...
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   +11 more
doaj   +1 more source

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening [PDF]

, 2012
We examined the relation between the number of (TG) repeats at the (IVS8)-(TG)m(T)5 locus of the CFTR gene with neonatal serum immunoreactive trypsinogen (IRT) and sweat chloride (SC) concentrations in hypertrypsinogenemic infants with genotype ΔF508-9T ...
Keiles, Steven, Koepke, Ruth, Consortium, California Cystic Fibrosis Newborn Screening, Kharrazi, Martin, Parad, Richard   +4 more
core   +3 more sources

Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters

Diagnostics, 2021
In Austria, newborns have been screened for cystic fibrosis (CF) by analyzing immunoreactive trypsinogen (IRT) from dried blood spots (DBS)s for nearly 20 years.
Maximilian Zeyda, Andrea Schanzer, Pavel Basek, Vera Bauer, Ernst Eber, Helmut Ellemunter, Margit Kallinger, Josef Riedler, Christina Thir, Franz Wadlegger, Angela Zacharasiewicz, Sabine Renner   +11 more
doaj   +1 more source

Clinical and Laboratory Findings in Children with Positive Newborn Screening for Cystic Fibrosis: A Multicenter Retrospective Study

Journal of Pediatric Research
Aim: In some settings, the diagnostic evaluation of cystic fibrosis (CF) may be delayed due to limited access to sweat chloride tests. This study aimed to describe the clinical and laboratory findings observed during the evaluation of children with ...
Pelin Asfuroğlu, Ayşe Tana Aslan, Tuğba Ramaslı Gürsoy, Gökçen Ünal, Aslı İmran Yılmaz, Büşra Sultan Kibar, Sevgi Pekcan, Melih Hangül, Mehmet Köse, Tuğba Şişmanlar Eyüboğlu   +9 more
doaj   +1 more source

Fecal elastase levels in children diagnosed with functional abdominal pain-not otherwise specified

The Turkish Journal of Pediatrics, 2021
Background. Although the exact pathophysiology of functional gastrointestinal diseases remains unclear, numerous etiologies have been blamed, including visceral hypersensitivity, gastrointestinal motility disorders, psychological factors ...
Burcu Güven, Nuriye Burçin Turan, Ahmet Fayik Öner, Kamuran Karaman, Mecnun Çetin   +4 more
doaj   +1 more source

Transforming Care in Cystic Fibrosis: The Long‐Term Impact of Quality Improvement Projects on Clinical Outcomes

Pediatric Pulmonology, Volume 61, Issue 4, April 2026.
ABSTRACT Objective This study aimed to evaluate 5‐year outcomes of a structured quality improvement (QI) program implemented as part of the standard of care at our CF center, focusing on changes in body mass index (BMI) and forced expiratory volume in 1 s (FEV₁) in pwCF followed at our institution.
S. Karabulut, M. Yuksel Kalyoncu, M. Selcuk Balcı, N. Metin Cakar, C. A. Yıldız, B. Uzunoglu, G. Tastan, D. Kocaman, C. Yılmaz Yeğit, A. P. Ergenekon, E. Erdem Eralp, Y. Gokdemir, F. Karakoc, S. Z. Nasr, B. Karadag   +14 more
wiley   +1 more source

Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice

Health Technology Assessment, 2009
Objectives: To describe and explore current practice, methods and experience of communicating carrier status information following newborn screening for cystic fibrosis (CF) and sickle cell (SC) disorders, to inform practice and further research. Design:
J Kai, F Ulph, T Cullinan, N Qureshi
doaj   +1 more source

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders

Diagnostics, 2020
Background: Newborn screening (NBS) early-identifies cystic fibrosis (CF), but in CF-screening positive inconclusive diagnosis (CF-SPID) the results of immunoreactive trypsinogen (IRT), molecular analysis and sweat test (ST) are discordant.
Alice Castaldo, Chiara Cimbalo, Raimondo J. Castaldo, Marcella D’Antonio, Manuela Scorza, Laura Salvadori, Angela Sepe, Valeria Raia, Antonella Tosco   +8 more
doaj   +1 more source

Multiple Strategies for Recombinant Expression of Human Chymotrypsinogen C in Pichia Pastoris

Food Bioengineering, Volume 4, Issue 4, Page 407-415, December 2025.
Human chymotrypsin C (CTRC), a food‐processing protease, was expressed in Pichia pastoris via three strategies: replacing the AOX1 promoter with HpHMD, rDNA locus‐based gene integration, and engineering the pro2M mutant to evade host protease degradation. The pro2M showed 3.3‐fold higher specific activity (54.84 U/mg) and improved secretion relative to
Yi Liu, Yu Xie, Xingyu Shen, Shihui Wang, Yi Xiong, Guimin Zhang   +5 more
wiley   +1 more source