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http://dx.doi.org/10.5935/abc.20170015 | DOI Listing |
J Ovarian Res
January 2025
Departments of Endocrinology, Sheri Kashmir Institute of Medical Sciences, Srinagar, J&K, India.
Background: A significant overlap in the pathophysiological features of polycystic ovary syndrome (PCOS) and type 2 diabetes mellitus (T2DM) has been reported; and insulin resistance is considered a central driver in both. The expression and hepatic clearance of insulin and subsequent glucose homeostasis are mediated by TCF7L2 via Wnt signaling. Studies have persistently associated TCF7L2 genetic variations with T2DM, however, its results on PCOS are sparse and inconsistent.
View Article and Find Full Text PDFEye Vis (Lond)
January 2025
National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Background: Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Pediatrics, Huazhong University of Science and Technology Union Shenzhen Hospital, Shenzhen, China.
Background: Generalized lymphatic anomaly (GLA) is a rare congenital lymphatic malformation (LM) characterized by multiple infiltrating lymphangiomas in various tissues. Owing to its rarity, information on this disease is obtained mainly through case reports, leading to delayed diagnosis. In this study, we reported a case of generalized lymphatic anomaly in a pediatric patient manifesting as hemorrhagic pleural effusion.
View Article and Find Full Text PDFBMC Microbiol
January 2025
Department of Medical Microbiology and Immunology, Faculty of Medicine, Benha University, Benha, Egypt.
Background: Novel platforms using nanotechnology-based medicines have exponentially increased in our daily lives. The unique characteristics of metal oxide and noble metals nanoparticles make them suitable for different fields including antimicrobial agents, cosmetics, textiles, wound dressings, and anticancer drug carriers.
Methods: This study focuses on the biosynthesis of small-sized SNPs using exo-metabolites of Fusarium oxysporum via bioprocess optimization using Plackett-Burman (PBD) and central composite designs (CCD) while evaluating their multifaceted bioactivities.
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