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Hepatic Glycogenosis: A Rare Complication of Type 1 Diabetes Mellitus.
Cureus
November 2024
Department C, National Institute of Nutrition of Tunis, Tunis, TUN.
Type 1 diabetes mellitus (T1DM) is a common autoimmune pathology requiring lifelong insulin therapy. We report the case of a 12-year-old girl with T1DM admitted to Department C of the National Institute of Nutrition of Tunis for diabetic ketosis. She had suffered from T1DM for five years, with poor glycemic control (hemoglobin A1C = 10%) and poor therapeutic adherence.
View Article and Find Full Text PDFBackground: Hepatic glycogen storage diseases (GSDs) are characterised by enzyme defects affecting liver glycogen metabolism, where carbohydrate supplementation to prevent overnight hypoglycaemia is common. Concerns around sleep quality in hepatic GSDs relate to emerging evidence that overnight dysglycaemia impacts sleep quality.
Methods: This prospective observational study reported sleep quality and duration in children with hepatic GSDs over 7 days utilising: actigraphy (Actiwatch 2 by Phillips Respironics), sleep diaries, proxy reported age-appropriate sleep and quality-of-life (QoL) questionnaires, in the context of nocturnal glycaemic profiles continuous glucose monitor (CGM, Dexcom G6) and nocturnal dietary management strategies.
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Orphanet J Rare Dis
December 2024
Assistant Professor of Cellular and Molecular Medicine, Shiraz Transplant Research Center, Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran.
Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding these diseases, there are still unclear questions regarding their clinical manifestations, genetic variations, and the relationship between genotype and phenotype.
View Article and Find Full Text PDFMolecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.
World J Clin Pediatr
December 2024
Center of Excellence for Medical Genetics, Department of Pediatrics, King Chulalongkorn Mem Hosp, Dept Pediat, Div Med Genet and Metab, Sor Kor Bldg, Chulalongkorn University, Bangkok 10330, Thailand.
Article Synopsis
- Genetic analysis of eight Thai children diagnosed with hepatic glycogen storage diseases (GSD) revealed various subtypes through whole-exome sequencing, with common symptoms including hepatomegaly and hypoglycemia.
- Treatments primarily involved cornstarch supplementation and dietary adjustments, leading to improved health outcomes over a median follow-up of nearly 10 years.
- The study emphasizes the importance of molecular analysis for accurate diagnosis and tailored treatment plans for better long-term management of GSD in affected patients.
Human liver organoids are susceptible to Plasmodium vivax infection.
Malar J
December 2024
Siriraj Integrative Center for Neglected Parasitic Diseases, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Background: The eradication of Plasmodium vivax malaria is complicated due to the presence of hypnozoites, the hidden dormant form of the parasite that is present in the liver. Currently available drug regimens are effective at killing hypnozoites but cause side effects and are difficult to administer. Studies testing drugs for liver-stage malaria remain rare and mainly rely on the use of cancerous or immortalized hepatic cells and primary hepatocytes.
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