Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Aim: Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to a change in the genetic sequence of alanine-glyoxylate aminotransferase (AGXT) gene.

Inflammatory disease in people with multiple sclerosis treated with immune checkpoint inhibitors.

This study evaluated disease activity in people with Multiple Sclerosis (PwMS) who received immune checkpoint inhibitors (ICIs) compared to PwMS not treated with ICIs. There were 108 PwMS included (27 PwMS+ICIs and 81 PwMS controls), matched on age, sex, disease duration, DMTs, and MS disease course. Of 27 PwMS+ICIs, one (4%) had a relapse and four (15%) developed new MRI lesions without clinical symptoms.

Surface-enhanced Raman spectroscopy for the characterization of filtrate portions of blood serum samples of myocardial infarction patients using 30 kDa centrifugal filter devices.

Myocardial infarction (MI) is the leading cause of death and disability worldwide. It occurs when a thrombus forms after an atherosclerotic plaque bursts, obstructing blood flow to the heart. Prompt and accurate diagnosis is crucial for improving patient survival.

Gene expression and hormonal signaling in osteoporosis: from molecular mechanisms to clinical breakthroughs.

Osteoporosis is well noted to be a universal ailment that realization impaired bone mass and micro architectural deterioration thus enhancing the probability of fracture. Despite its high incidence, its management remains highly demanding because of the multifactorial pathophysiology of the disease. This review highlights recent findings in the management of osteoporosis particularly, gene expression and hormonal control.

Remnant Cholesterol: Quantification, Concentrations by Sex and Age, and Risk of Ischemic Heart Disease.

Background: Observational and genetic causal studies have shown an association between high concentrations of remnant cholesterol and increased risk of ischemic heart disease. However, findings from randomized intervention trials that reduced plasma triglycerides, a surrogate marker of remnant cholesterol, have been conflicting. The exact mechanisms by which remnant cholesterol contributes to atherosclerosis and, ultimately, ischemic heart disease remain incompletely understood.