Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

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.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Remarkable improvement in drilling fluid properties with graphitic-carbon nitride for enhanced wellbore stability.

This study examines the viability of using graphitic-Carbon Nitride (g-CN) nanomaterial as shale stabilizer drilling fluid additive having applications in the oil and gas wells drilling. Shale stability is important especially when drilling horizontal and extended reach wells with water-based muds (WBM) to tap unconventional reservoirs namely shale oil and shale gas. For this study, the g-CN nanomaterial was produced by melamine pyrolysis, and characterized by X-Ray Diffraction, Scanning Electron Microscopy and Fourier Transform Infrared spectroscopy techniques.

Effect of Curcumin on Lipid Mediators, Glycemic Index, and Oxidative Stress and Inflammation Biomarkers in Polycystic Ovary Syndrome: Future Directions and Current Knowledge - A Systematic Revie.

Polycystic ovary syndrome (PCOS) is one of the most common and important polygenic endocrine disorders among women of reproductive-aged. Current treatments are mostly used only to control the signs and symptoms of the disease, while not being able to completely prevent complications. Curcumin is one of the active compounds in turmeric, which is commonly used for a wide range of metabolic and inflammatory diseases.

Cancer-associated fibroblast-derived exosomes in cancer progression: a focus on hepatocellular carcinoma.

The tumor microenvironment (TME) has drawn much interest recently in the search for innovative cancer therapeutics, especially in light of the growing body of evidence supporting the efficacy of immune checkpoint inhibitors (ICIs). The TME comprises various cell types within the extracellular matrix (ECM), such as immune cells, endothelial cells, and cancer-associated fibroblasts (CAFs). Throughout the malignancy, these cells interact with cancerous cells and with one another.