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Mitochondrial HMG-CoA synthase deficiency.
Mol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFSix months of hybrid closed-loop therapy improves diabetes-specific positive well-being, and reduces diabetes distress and fear of hypoglycemia: secondary analysis of a randomized controlled trial.
BMJ Open Diabetes Res Care
December 2024
The Australian Centre for Behavioural Research in Diabetes, Diabetes Victoria, Carlton, Victoria, Australia.
Introduction: This analysis aimed to investigate diabetes-specific psychological outcomes among adults with type 1 diabetes (T1D) using hybrid closed-loop (HCL) versus standard therapy.
Research Design And Methods: In this multicenter, open-label, randomized, controlled, parallel-group clinical trial, adults with T1D were allocated to 26 weeks of HCL (MiniMed™ 670G) or standard therapy (insulin pump or multiple daily injections without real-time continuous glucose monitoring). Psychological outcomes (awareness and fear of hypoglycemia; and diabetes-specific positive well-being, diabetes distress, diabetes treatment satisfaction, and diabetes-specific quality of life (QoL)) were measured at enrollment, mid-trial and end-trial.
Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis.
Medicine (Baltimore)
January 2025
Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Background: This study evaluates the efficacy and safety of sitagliptin versus gliclazide, combined with metformin, in treatment-naive patients with type 2 diabetes mellitus (T2DM) and glucotoxicity.
Methods: In this single-center, randomized, controlled noninferiority trial, 129 treatment-naive patients with T2DM with glucotoxicity (fasting plasma glucose [FPG] ≥ 200 mg/dL and glycated hemoglobin ≥ 9.0%) were randomized to receive sitagliptin plus metformin (n = 66) or gliclazide plus metformin (n = 63) for 12 weeks.
Comparison of Freestyle Optium Neo H and Centrivet GK Device in the Diagnosis of Hypoglycaemia and Hyperketonaemia in Dairy Goats: A Field Study.
Vet Med Sci
January 2025
Department of Statistics, Faculty of Science, University of Muğla Sıtkı Koçman, Muğla, Turkey.
Background: There is a lack of data on the validation and diagnostic performance of the Freestyle Optium Neo-H (Freestyle) and Centrivet GK (Centrivet) devices for the diagnosis of hypoglycaemia, hyperglycaemia and hyperketonaemia in goats.
Objectives: The aim of the present study was to validate the Freestyle and Centrivet for the analysis of whole blood beta-hydroxybutyric acid (BHBA) and to validate the Freestyle for the analysis of whole blood glucose concentrations using the reference method (RM) in goat blood collected from the jugular and ear veins.
Methods: Venous blood samples were utilised to assess glucose and BHBA concentrations using the Freestyle, Centrivet and RM.
Remission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy.
JCEM Case Rep
January 2025
Division of Diabetology and Metabolism, Department of Internal Medicine, Tokyo Women's Medical University School of Medicine, Shinjuku-ku, Tokyo 162-8666, Japan.
A 37-year-old man presented with symptoms of polyuria and weight loss over the past year. Initial laboratory examination showed elevated blood glucose level (468 mg/dL [25.9 mmol/L]; normal reference range [RR], 75-109 mg/dL [4.
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