Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.

Rheumatic Heart Disease and Endomyocardial Fibrosis: A Complex Novel Case of Heart Failure.

Rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF) are major causes of cardiac disease in low-income countries. We present a case of a patient with mitral stenosis and restrictive cardiomyopathy, initially attributed to severe RHD, but with disease progression despite valve replacement, likely secondary to previously undiagnosed EMF.

Correction: Habib et al. Thiolated Chitosan Microneedle Patch of Levosulpiride from Fabrication, Characterization to Bioavailability Enhancement Approach. 2022, , 415.

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An interplay of salt and Ni stress on contrasting tomato ( L.) genotypes: a physiological and biochemical insight.

The concurrently occurring multiple abiotic stresses like salinity and heavy metals (Nickel) pose a serious threat to plant survival and food security worldwide, especially in the face of climate change. Therefore, it is imperative to continuously test and study the plant's physiological changes under combinations of abiotic stresses to ensure sustainability and food security. An experiment was conducted to study the interactive effects of salinity (0, 7.