Not all patients with cystic fibrosis have abnormal sweat chloride levels, severe lung disease, or failure to thrive. These 2 cases remind us to think "outside the box".
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Biometrics
October 2024
Evidence Generation and Advanced Analytics Biogen Digital Health, Biogen, Cambridge, MA 02142, United States.
In many clinical contexts, the event of interest could occur multiple times for the same patient. Considerable advancement has been made on developing recurrent event models based on or that use biomarker information. However, less attention has been given to evaluating the prognostic accuracy of a biomarker or a composite score obtained from a fitted recurrent event-rate model.
View Article and Find Full Text PDFFront Genet
December 2024
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
Eur J Cell Biol
December 2024
Department of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.
The biliary tract is a ductal network comprising the intrahepatic (IHBDs) and extrahepatic bile duct (EHBDs). Biliary duct disorders include cholangitis, neoplasms, and injury. However, the underlying mechanisms are not fully understood.
View Article and Find Full Text PDFVopr Kurortol Fizioter Lech Fiz Kult
December 2024
Patrice Lumumba Peoples' Friendship University of Russia, Moscow, Russia.
Objective: To develop and try out a convenient and accessible for use technology for testing the pulmonary function in children and adults, including in patients with chronic bronchopulmonary pathology.
Material And Methods: The article presents the results of Lazarev sound-breathing test (LST) in different cohorts of children and adults, including pregnant women and children suffering from chronic bronchopulmonary diseases, in particular cystic fibrosis.
Results: A direct dependence of the LST indicators' level from the age of children and adolescents has been obtained.
J Exp Zool A Ecol Integr Physiol
December 2024
Departement of Biology, Faculty of Science, Academic Assembly, University of Toyama, Gofuku, Toyama, Japan.
In euryhaline teleosts, the cystic fibrosis transmembrane conductance regulator (CFTR) in seawater (SW)-type chloride cells facilitates apical Cl secretion for SW adaptation, while alternative Cl excretion pathways remain understudied. This study investigates the role of the calcium-activated chloride channel, Anoctamin 1 (ANO1), in the gills of the euryhaline Japanese medaka (Oryzias latipes) under hyperosmolality and cortisol (CORT) influence. Acclimation to artificial SW, NaCl, mannitol, or glucose significantly upregulated ANO1 and CFTR mRNA expression in gills, unlike urea treatment.
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