Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present a rare case of a middle-aged woman who presented with chronic anemia and bone pain.
View Article and Find Full Text PDFThe monoclinic polymorph of CoPO (space group 2/), isomorphic to farringtonite (MgPO) type orthophosphates, was studied up to 21 GPa using synchrotron powder X-ray diffraction and density-functional theory simulations to investigate the influence of pressure in the crystal structure. This study revealed a pressure induced structural phase transition for monoclinic cobalt phosphate, CoPO, and the details of crystal structure of the new high-pressure polymorph were delineated. The evolution of XRD pattern with pressure indicate that the onset of a phase transition occurs around 2.
View Article and Find Full Text PDFBackground: Hypertrophic Cardiomyopathy (HCM) is a complex cardiac condition characterized by hypercontractility of cardiac muscle leading to a dynamic obstruction of left ventricular outlet tract (LVOT). Mavacamten, a first-in-class cardiac myosin inhibitor, is increasingly being studied in randomized controlled trials. In this meta-analysis, we aimed to analyse the efficacy and safety profile of Mavacamten compared to placebo in patients of HCM.
View Article and Find Full Text PDFJ Community Hosp Intern Med Perspect
November 2023
Introduction: SARS-CoV-2 infection is associated with myocardial inflammation, new onset cardiomyopathy, and arrhythmias. Here, we describe the utilization of POCUS and management of concurrent new onset atrial tachycardia and heart failure with reduced ejection fraction (HfrEF) in a patient with SARS-CoV-2 infection.
Presentation: An 80-year-old female with multiple medical problems presented with sudden onset of shortness of breath and cough.
Statin-intolerance (SI) has prevalence between 8.0 % and 10 %, and muscular complaints are the most common reason for discontinuation. Bempedoic acid (BA), an ATP citrate lyase inhibitor, decreases hepatic generation of cholesterol, upregulates low-density lipoprotein (LDL) receptor expression in the liver, and eventually clears circulating LDL-cholesterol from the blood.
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