Brugada syndrome (BrS), a genetically inherited ion channelopathy, has been linked to a considerable number of unexplained sudden cardiac deaths in patients without structural heart defects, and Brugada phenocopy (BrP) is a condition where there is an identical electrocardiogram (ECG) pattern to a congenital BrS, but this is due to other reversible etiologies. A 37-year-old male patient with a documented history of hypertension presented with vomiting after taking 43, 10 mg, melatonin pills and binge drinking locally made alcohol 2 days before. ECG showed right ventricular conduction delay with a "saddleback" appearance, with the J point elevated more than 2 mm and the terminal portion of the ST-segment elevated more than 1 mm in leads V1 and/or V2.
View Article and Find Full Text PDFIntroduction: Scalp masses are often the initial presentation of a widely disseminated malignancy. Fine-needle aspiration (FNA) is an optimal method for obtaining an accurate tissue diagnosis, in these patients with initial presentation and those with a known malignancy.
Materials And Methods: We reviewed all FNAs of skin and soft tissue lesions from the scalp at our institution over a period of 31 years (1990-2021).
Ribosomal stress is an important, yet poorly understood, mechanism that results in activation of the p53 tumour suppressor. We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation. This phenocopy is rescued in a haploinsufficient p53 background.
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