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Case Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.
Paediatr Anaesth
January 2025
Department of Anaesthesiology, Adolphe de Rothschild Foundation Hospital, Paris, France.
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare life-threatening inborn error of neurotransmitter biosynthesis. It is characterized by deficient biosynthesis of neurotransmitters dopamine and serotonin, leading to catecholamines deficiency and sympathetic deprivation, while the parasympathetic system remains functional. Since 2012, gene therapy has led to clinical improvements in symptoms and motor function with a severe phenotype.
View Article and Find Full Text PDFEfficacy of cartilage-targeted IGF-1 in a mouse model of growth hormone insensitivity.
Front Endocrinol (Lausanne)
January 2025
Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD, United States.
Recombinant human IGF-1 is used to treat severe primary IGF-1 deficiency, but this treatment requires twice-daily injection, often does not fully correct the growth deficit, and has important off-target effects. We therefore sought to target IGF-1 to growth plate cartilage by generating fusion proteins combining IGF-1 with single-chain human antibody fragments that target matrilin-3, a cartilage matrix protein. We previously showed that this cartilage-targeting IGF-1 fusion protein (CV1574-1) promoted growth plate function in a GH-deficient (lit) mouse model.
View Article and Find Full Text PDFLow-dose quinine targets KCNH6 to potentiate glucose-induced insulin secretion.
J Mol Cell Biol
January 2025
Department of Endocrinology, Beijing Diabetes Institute, Beijing Key Laboratory of Diabetes Research and Care, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
Insulin secretion is mainly regulated by two electrophysiological events, depolarization initiated by the closure of ATP-sensitive K+ (KATP) channels and repolarization mediated by K+ efflux. Quinine, a natural component commonly used for the treatment of malaria, has been reported to directly stimulate insulin release and lead to hypoglycemia in patients during treatment through inhibiting KATP channels. In this study, we verified the insulinotropic effect of quinine on the isolated mouse pancreatic islets.
View Article and Find Full Text PDFUnmasking Long QT Syndrome in a Serviceman: Effects of Hypoglycemia and a Flight Duty Medical Examination.
Mil Med
January 2025
Division of Endocrinology, Diabetes and Metabolism, University of California Davis Health, Sacramento, CA 95817, USA.
We report the case of a 29-year-old male soldier with a time in service above 10 years, found to have asymptomatic long QT syndrome (LQTS), a condition associated with increased risk of potentially fatal ventricular arrhythmias, during a flight physical. A review of his past medical history revealed a transient QT prolongation during an episode of hypoglycemia due to endogenous hyperinsulinism caused by an insulinoma, as an infantryman 7 years earlier; the resolution of the QT prolongation was spontaneous. He was evaluated and considered fit for duty by cardiology.
View Article and Find Full Text PDFPrevalence and factors associated with potential clinically significant drug-drug interactions in patients with cardiovascular diseases at hospital admission.
Acta Pharm
December 2024
Department of Clinical Pharmacy, University Hospital Dubrava, 10000 Zagreb Croatia.
Cardiovascular diseases (CVDs) are the leading cause of mortality and morbidity globally. It is estimated that 17.9 million people died from CVDs in 2019, which represents 32 % of all deaths worldwide.
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