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Aim: To investigate whether the risk of hypoglycemia is associated with residual β-cell function in adults with type 1 diabetes (T1D).
Methods: This cross-sectional study included 61 subjects with T1D of <15 years' duration using continuous glucose monitoring (CGM). Random C-peptide levels were compared between participants with time below range (TBR) ≥3 % (n = 15) and TBR <3 % (n = 45).
Short-term modification of breathprint by Elexacaftor/Tezacaftor/Ivacaftor in a paediatric cohort.
J Cyst Fibros
January 2025
INSERM U1151, Institut Necker Enfants Malades, Paris, France; Hôpital Necker Enfants Malades, Centre de Référence Maladies Rares Mucoviscidose et Maladies apparentées, Paris, France; Université Paris-Cité, Paris, France; European Reference Network-Lung. Frankfurt, Germany. Electronic address:
Background: The triple combination Elexacaftor/Tezacaftor/Ivacaftor (ETI) translates into major respiratory improvements in adults; yet current clinical endpoints may prove insufficiently sensitive in young children. We hypothesised that ETI rapidly modifies the lungs' metabolism, resulting in changes in breath composition.
Methods: Eleven children with CF were enrolled in a longitudinal pilot study at the paediatric Necker hospital.
Background: Spirometry-based assessment of pulmonary function has limitations in detecting pulmonary toxicity following cancer treatment with chemotherapy, haematopoietic stem cell transplantation, radiotherapy or thoracic surgery. Nitrogen single and multiple breath washout tests are sensitive in assessing peripheral airway function, and lung imaging detects structural abnormalities, but little is known about their use in paediatric cancer patients and survivors. We aimed to 1) identify studies using nitrogen single or multiple breath washout tests and/or lung imaging to assess pulmonary toxicity in paediatric cancer patients and survivors, and 2) describe reported abnormalities.
View Article and Find Full Text PDFThe Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1.
J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFGenomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.
JAMA Netw Open
January 2025
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.
Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).
Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.
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