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| http://dx.doi.org/10.2337/dc12-0749 | DOI Listing |
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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 PDFTransient Third-Degree Atrioventricular Block in a Dog with Addisonian Crisis.
Vet Sci
January 2025
Department of Clinics, Faculty of Veterinary Medicine, "Ion Ionescu de la Brad" Iasi University of Life Sciences, 700490 Iasi, Romania.
A 3-year-old spayed male mixed-breed Labrador presented to the Emergency and Critical Care Unit with lethargy, loss of appetite, vomiting, a recent history of presyncopal episodes, and severe exercise intolerance. On admission, the patient had bradycardia, low blood pressure, and mild abdominal pain. Serum biochemistry information revealed severe hyperkalemia, hyponatremia, hypoglycemia, and mildly increased liver and kidney parameters.
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 PDFHypoglycemia and hospital mortality in critically ill patients.
Sci Rep
January 2025
Department of Critical Care Medicine, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung, 40705, Taiwan.
Prior research has indicated that adopting strict glycemic control measures might elevate the risk of hypoglycemia and result in higher mortality rates among critically ill patients. However, there is a lack of studies investigating the incidence of hypoglycemia and its consequential outcomes in real-world clinical settings. This retrospective cohort study was conducted at Taichung Veterans General Hospital, utilizing critical care databases covering the period from 2015 to 2020.
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