Case report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.

Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.

Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.

Thyroid disorders in patients with human immunodeficiency virus infection: a meta-analysis.

Background: Thyroid disorders have significant clinical sequelae, including impaired growth in children, metabolic abnormalities, and impaired cognitive function. However, available studies on burden of thyroid diseases in people with human immunodeficiency virus (HIV), particularly its prevalence and its interaction with HIV related factors (like CD4 count), are controversial. This review aimed to provide a comprehensive summary and analysis on the extent of thyroid dysfunctions in this population.

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.