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Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
Arch Pediatr
January 2025
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFEmerg Nurse
January 2025
Faculty of Health Education and Life Sciences, Birmingham City University, Birmingham, England.
Hypoglycaemia is a common cause of presentation to the emergency department (ED) for people with diabetes mellitus. Patients experiencing a hypoglycaemic episode require prompt treatment with fast-acting glucose to prevent brain fuel deprivation and functional brain failure, therefore it is vital that ED nurses can recognise the signs and symptoms of hypoglycaemia and are aware of the factors that can compound or mask it. This article discusses the aetiology and signs and symptoms of hypoglycaemia in adults with type 1 and type 2 diabetes and describes the use of an algorithm for the management of hypoglycaemia in this patient population in hospital.
View Article and Find Full Text PDFJ Pharm Health Care Sci
January 2025
Department of Internal Medicine, Sanraku Hospital, 2-5 Kandasurugadai, Chiyoda-ku, Tokyo, 1018326, Japan.
Background: Remdesivir is recommended to treat hospitalized patients with coronavirus disease 2019 (COVID-19). Remdesivir is known to affect glucose metabolism in individuals with and without diabetes. However, little is known about the possibility of hypoglycemia associated with remdesivir.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Diabetes, Greenlane Hospital, Auckland, Auckland, New Zealand.
A woman in her 40s presented with severe post-bariatric hypoglycaemia that persisted despite nutritional therapy and pharmacological therapy with acarbose and subcutaneous octreotide with meals. The nutritional limitations were difficult to sustain, and she developed adverse effects to the pharmacological therapy, and hence, doses could not be increased. She was subsequently treated with subcutaneous octreotide via an insulin pump, with a continuous basal rate and additional bolus doses with meals.
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