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Changes in Red Cell Morphology and Haematological Laboratory Parameters Associated With Alectinib.
J Clin Lab Anal
July 2024
Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
Background: Alectinib is a second-generation anaplastic lymphoma kinase (ALK) inhibitor indicated for ALK-mutated non-small-cell lung cancer. Recently, the association between alectinib and red cell morphological abnormalities has been reported in a few case series. This retrospective observational study aims to determine the frequency of occurrence of acanthocytosis in patients taking alectinib and to evaluate the red cell indices, biochemical markers of haemolysis and eosin-5-maleimide (EMA) binding assay results in patients receiving alectinib.
View Article and Find Full Text PDFCurrent Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
J Atheroscler Thromb
July 2024
Cardiovascular Center, Osaka Medical and Pharmaceutical University.
Familial hypobetalipoproteinemia (FHBL) 1 is a rare genetic disorder with an autosomal codominant mode of inheritance and is caused by defects in the apolipoprotein (apo) B (APOB) gene that disable lipoprotein formation. ApoB proteins are required for the formation of very low-density lipoproteins (VLDLs), chylomicrons, and their metabolites. VLDLs transport cholesterol and triglycerides from the liver to the peripheral tissues, whereas chylomicrons transport absorbed lipids and fat-soluble vitamins from the intestine.
View Article and Find Full Text PDFAn Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).
Mov Disord
December 2023
Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Background: Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis.
View Article and Find Full Text PDFMarked Acanthocytosis Associated With Klipple Trenaunay Syndrom.
J Ayub Med Coll Abbottabad
March 2023
Liaquat National Medical College, Karachi-Pakistan.
Klipple-Trenaunay syndrome (KTS) is an extremely rare congenital vascular disorder with poorly defined incidence and prevalence. We report a case of a patient who presented after road traffic accident with primary complaints of poor wound healing and persistent bleeding from wound site. Discernible presence of arteriovenous malformation and skin hypertrophy since birth lead to the diagnosis of Klipple-Trenaunay syndrome (KTS).
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