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Potential effects of liver dysfunction at the time of diagnosis in patients with acute myeloid leukemia.
Exp Ther Med
February 2025
Department of Hematology, Etlik City Hospital, Ankara 06170, Turkey.
Whilst severe liver dysfunction is rarely encountered at the time of diagnosis for patients with acute myeloid leukemia (AML), mild elevations aminotransferase (<5 times the upper limit of normal) may be more frequently seen. Liver dysfunction at the time of diagnosis of AML is a parameter that requires investigation and can assist the clinicians in predicting prognosis. The aim of the present study was to investigate liver dysfunction at the time of diagnosis using the assoicated parameters in patients with AML.
View Article and Find Full Text PDFChikungunya infection in children: clinical profile and outcome.
J Trop Pediatr
December 2024
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry 605006, India.
The clinical profile and outcomes of children with chikungunya infection differ from those observed in adults. As there is a paucity of data on chikungunya infection in children, this study aimed to find the clinical course, complications, and mortality rates of chikungunya infection in children. This was a combined retrospective and prospective observational study.
View Article and Find Full Text PDFMitochondrial 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 PDFSiblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFGlycogen Storage Disease Type Ia: A Retrospective Claims Analysis of Complications, Resource Utilization, and Cost of Care.
J Health Econ Outcomes Res
January 2025
Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with GSDIa. We conducted a retrospective cohort study of GSDIa patients and matched non-GSDIa comparators utilizing the PharMetrics® Plus database.
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