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Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to date. The objective of this study was to identify the genotypes and genotype-phenotype correlations in a cohort of Sri Lankan patients with homocystinuria due to CBS deficiency.
View Article and Find Full Text PDFPersonalized Medicine Through Semisolid-Extrusion Based 3D Printing: Dual-Drug Loaded Gummies for Enhanced Patient Compliance.
Pharm Res
January 2025
Department of Pharmaceutics and Drug Delivery, School of Pharmacy, The University of Mississippi, University, MS, 38677, USA.
Purpose: The purpose of this research was to develop and characterize dual-drug Isoniazid-Pyridoxine gummies using Semisolid Extrusion (SSE) 3D printing technology, aimed at personalized dosing for a broad patient demographic, from pediatric to geriatric. This study leverages SSE 3D printing, an innovative approach in personalized medicine, to enable precise dose customization and improve patient adherence. By formulating dual drug-loaded gummies, the research addresses the challenges of pill burden and poor palatability associated with traditional tuberculosis regimens, ultimately enhancing the therapeutic experience and effectiveness for patients across various age groups.
View Article and Find Full Text PDFInterlinking 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.
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