Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Myoclonus-dystonia syndrome (MDS, OMIM #159900) is an autosomal-dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable severity due to a novel heterozygous splicing variant in SGCE (c.

A Comparative Effect of Different Herbal Products on Lipid Metabolism and Hepatic Tissue: An Experimental Study on a Rat Model.

Background Dysregulation of lipid metabolism can lead to conditions such as hyperlipidemia, obesity, cardiovascular diseases, and hepatic steatosis. A high-fat diet (HFD) results in dysregulation of lipid metabolism and may primarily convert liver tissue to develop inflammation and fibrosis. Slimming pills, Japanese powder tea, and Shahana tea are common green teas that commercials have used for hyperlipidemia, obesity, and liver protection.

A systematic review and meta-analysis assessing the impact of pentoxifylline on the healing and recurrence of venous leg ulcers.

Introduction: Venous leg ulcers (VLU) are the most severe manifestation of venous insufficiency and carry a poor prognosis because of delayed healing and recurrent ulceration. Pentoxifylline (PTX) is an example of a vasoactive medication that can be used alongside compression therapy to help improve ulcer healing rates. A previous review highlighted improved healing of VLU with PTX, although no analysis was made for complete ulcer healing and recurrence following treatment.

Disparities in Peripheral Artery Disease-related Mortality in Chronic Inflammatory Disease in the United States from 1999 to 2020.

Introduction: Peripheral arterial disease (PAD) is a marker of significant atherosclerotic cardiovascular disease and is associated with greater healthcare burden and worse prognosis in individuals with chronic inflammatory disease (CID). We aimed to investigate temporal trends and disparities of PAD-related mortality in populations with CID from 1999-2020 across six common CIDs (i.e.