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Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.
JIMD Rep
January 2025
Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.
View Article and Find Full Text PDFSeniority, authorship order, and severity of punishment in research misconduct - shared/honorary authorships as explanations for an apparent paradox.
Account Res
January 2025
Department of Biochemistry, Yong Loo Lin School of Medicine, National University Health System, National University of Singapore, Singapore.
The Impact of Intracervical Terlipressin on Intravasation and Venous Embolization During Transcervical Myomectomy and Endometrium resection: A Randomized Controlled Study.
J Minim Invasive Gynecol
January 2025
Department of Anaesthesiology, Onze Lieve Vrouwe Gasthuis (OLVG), Oosterpark 9, 1091 AC, Amsterdam, the Netherlands.
Study Objective: To investigate whether intracervical injection of terlipressin during hysteroscopic surgery could reduce the amount of intravasation, the incidence and severity of gas embolism, and the COHb levels in the blood.
Design: Randomized double-blind controlled trial.
Setting: Gynecologic surgical unit in a general hospital.
Vitamin A deficiency and male-specific effects on heart function in mice.
Biochem Biophys Res Commun
January 2025
Center for Molecular Medicine, Maine Health Institute for Research, 81 Research Drive, Scarborough, ME, USA.
Hepatic stores of Vitamin A (retinol) are mobilized and metabolized in the heart following myocardial infarction. The physiological consequences of this mobilization are poorly understood. Here we used dietary depletion in a lecithin retinol acyltransferase mutant mouse line to induce Vitamin A deficiency and investigate the effects on cardiac function and recovery from myocardial infarction.
View Article and Find Full Text PDFEuglycemic diabetic ketoacidosis associated metabolic encephalopathy caused by dapagliflozin: a rare case report.
BMC Neurol
January 2025
Department of Neurology, Haiyan People's Hospital, Jiaxing City, 314300, Zhejiang Province, China.
Background: Sodium-glucose cotransporter-2(SGLT-2) inhibitors are a newer class of antidiabetic drugs with the increased risk of euglycemic diabetic ketoacidosis(EuDKA). Encephalopathy is a rare but life-threatening event of EuDKA. Due to paradoxically normal or slightly elevated serum glucose levels, it's easy to be mimicked by cerebral infarction, structural brain damage, thus leading to delayed diagnosis and causing seriously irreversible brain injury.
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