McArdle disease is a genetic disorder that leads to impaired glycogenolysis in the muscle, resulting in exercise intolerance, fatigue, myalgias, and basal elevation of creatine kinase (CK). We report a case of a young woman with McArdle disease who had an episode of acute kidney injury (AKI) requiring temporary hemodialysis (HD), with subsequent complete recovery of renal function. We aim to report a rare clinical presentation of an already rare disease and discuss the possible causes involved; therefore, contributing to a better knowledge of the disease.
View Article and Find Full Text PDFWe report the case of an 89-year-old female patient who presented to the emergency department with BRASH syndrome, an acronym that stands for bradycardia, renal failure, atrioventricular nodal blockade, shock, and hyperkalemia, which is an underdiagnosed and recently described clinical entity. Contrary to either hyperkalemia or atrioventricular nodal blockade alone, this syndrome represents the synergistic combination of both together, creating a vicious cycle. Conservative treatment of each component, avoiding invasive measures like dialysis or pacing, usually leads to complete resolution.
View Article and Find Full Text PDFOffspring of dams exposed to excess folic acid during the perigestational period have been shown by us to be predisposed to metabolic dysfunction revealed by hyperglycemia, glucose intolerance, increased insulin and decreased adiponectin in late adulthood. This work aims to characterize adipocyte phenotype and expression profile of genes in the regulation of lipid and glucose metabolism in visceral adipose tissue and in skeletal muscle. From mating until weaning, a recommended dose of folic acid for pregnancy (C, 2 mg of folic acid per kg of diet) or a high folic acid dose (HFA, 40 mg of folic acid per kg of diet) was administered to Sprague-Dawley females.
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