Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians

V Terlizzi, PM Farrell - Current Problems in Pediatric and Adolescent …, 2024 - Elsevier
During the past quarter century, the diagnosis and treatment of cystic fibrosis (CF) have
been transformed by molecular sciences that initiated a new era with discovery of the cystic …

The exocrine pancreas in cystic fibrosis in the era of CFTR modulation: a mini review

IR McKay, CY Ooi - Frontiers in Pediatrics, 2022 - frontiersin.org
Cystic fibrosis (CF) is a common disorder of autosomal recessive inheritance, that once
conferred a life expectancy of only a few months. Over recent years, significant advances …

Patterns of postpartum primary care follow-up and diabetes-related care after diagnosis of gestational diabetes

R D'Amico, D Dalmacy, JA Akinduro, M Hyer… - JAMA Network …, 2023 - jamanetwork.com
Importance Gestational diabetes (GD) affects up to 10% of pregnancies and increases
lifetime risk of type 2 diabetes 10-fold; postpartum diabetes evaluation and primary care …

The rapid reduction of infection-related visits and antibiotic use among people with cystic fibrosis after starting elexacaftor-tezacaftor-ivacaftor

AC Miller, LM Harris, JE Cavanaugh… - Clinical Infectious …, 2022 - academic.oup.com
Background People with cystic fibrosis (CF) routinely suffer from recurrent sinopulmonary
infections. Such infections require frequent courses of antimicrobials and often involve …

ESPEN-ESPGHAN-ECFS guideline on nutrition care for cystic fibrosis

M Wilschanski, A Munck, E Carrion, M Cipolli, S Collins… - Clinical Nutrition, 2024 - Elsevier
Background Nutritional status is paramount in Cystic Fibrosis (CF) and is directly correlated
with morbidity and mortality. The first ESPEN-ESPGHAN-ECFS guidelines on nutrition care …

Theratyping of the rare CFTR variants E193K and R334W in rectal organoid-derived epithelial monolayers

F Ciciriello, MJC Bijvelds, F Alghisi, KF Meijsen… - Journal of Personalized …, 2022 - mdpi.com
Background: The effect of presently available CFTR modulator combinations, such as
elexacaftor (ELX), tezacaftor (TEZ), and ivacaftor (IVA), on rare CFTR alleles is often …

Germline multigene panel testing in acute and chronic pancreatitis

ML Ramsey, B Heald, Y Gokun, J Baker, JR Groce… - Plos one, 2024 - journals.plos.org
Background/Objectives Germline genetic testing is recommended for younger patients with
idiopathic pancreatitis but there has been a lack of consensus in recommendations for those …

Cystic fibrosis transmembrane conductance regulator modulators and the exocrine pancreas: A scoping review

ML Ramsey, SS Li, LF Lara, Y Gokun… - Journal of Cystic …, 2023 - Elsevier
Background Cystic fibrosis transmembrane conductance regulator (CFTR) modulators
improve pulmonary outcomes in subjects with cystic fibrosis (CF); however, the effects on …

Nutritional management of people living with cystic fibrosis throughout life and disease continuum: changing times, new challenges

G Mailhot, MH Denis… - Journal of Human …, 2023 - Wiley Online Library
Cystic fibrosis (CF) is a genetic disease caused by mutations in the gene encoding for the
ion channel cystic fibrosis transmembrane conductance regulator (CFTR). The management …

Central role of the sentinel acute pancreatitis event (SAPE) model in understanding recurrent acute pancreatitis (RAP): implications for precision medicine

DC Whitcomb - Frontiers in pediatrics, 2022 - frontiersin.org
Traditional approaches to understanding the origins of chronic pancreatitis (CP) and find
treatments led to abysmal failure. Thus, no drugs now exists to meet this need. Outdated …