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Interlinking the Cross Talk on Branched Chain Amino Acids, Water Soluble Vitamins and Adipokines in the Type 2 Diabetes Mellitus Etiology.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Biochemistry, KVG Medical College and Hospital, Sullia 574327, India.
Type 2 Diabetes Mellitus (T2DM) is an etiologically diverse metabolic dysfunction that, if untreated, leads to chronic hyperglycemia. Understanding the etiology of T2DM is critical, as it represents one of the most formidable medical challenges of the twenty-first century. Traditionally, insulin resistance has been recognized as the primary risk factor and a well-known consequence of type 2 diabetes.
View Article and Find Full Text PDFCase report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
Front Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
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.
Investigating the Impact of Selected B Vitamins (B1, B2, B6, and B12) on Acute Colitis Induced Experimentally in Rats.
Int J Prev Med
November 2024
Department of Pharmacology and Toxicology, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.
Article Synopsis
- Malnutrition and low micronutrient levels are common in patients with ulcerative colitis (UC), and this study examined how different vitamin B groups might help improve the condition.
- Experimental colitis was induced in rats, and both high and normal doses of several B vitamins were administered; results showed significant improvements in weight and ulceration measures following treatment.
- While most vitamins showed beneficial anti-inflammatory effects, pyridoxine was less effective in reducing UC symptoms, indicating a need for further research on the clinical implications of these findings.
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Mol Genet Metab
December 2024
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Background: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy.
View Article and Find Full Text PDFPyridoxine supplementation before puberty ameliorates MAM-induced cognitive and sensorimotor gating impairments.
Metab Brain Dis
December 2024
School of Medicine, Jiangsu University, Zhenjiang, Jiangsu Province, 212013, PR China.
Schizophrenia is a kind of neurodevelopmental mental disorder in which patients begin to experience changes early in their development, typically manifesting around or after puberty and has a fluctuating course. Environmental disturbances during adolescence may be a risk factor for schizophrenia-like deficits. As a better treatment option, preventive intervention prior to schizophrenia may be more beneficial than direct treatment.
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