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Front Neurol
January 2025
14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.
Background: Charcot-Marie-Tooth disease (CMT), a slowly advancing hereditary nerve disorder, presents a significant challenge in the medical field. Effective drugs for treatment are lacking, and we struggle to find sensitive markers to track the disease's severity and progression. In this study, our objective was to investigate the levels of neurofilament light chain (NfL), glial fibrillary acid protein (GFAP), fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) in individuals with CMT and to compare them to a control group.
View Article and Find Full Text PDFCureus
December 2024
Department of Ophthalmology and Visual Science, Ophthalmology Clinic, Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian, MYS.
A juxtapapillary retinal capillary hemangioma (JRCH) is a rare vascular hamartoma located on the optic nerve head or adjacent region. While often associated with von Hippel-Lindau (VHL) disease, JRCHs can also occur as an isolated condition, presenting unique therapeutic challenges and risks of visual impairment. We report a case of a 50-year-old Malay gentleman with diabetes mellitus who presented with a non-progressive superior visual field defect in his left eye for three months.
View Article and Find Full Text PDFBMC Genomics
January 2025
Key Laboratory of Breeding Biotechnology and Sustainable Aquaculture, Institute of Oceanology, Chinese Academy of Sciences, Qingdao, China.
Background: Due to sexual dimorphism in growth of penaeid shrimp, all-female cultivation is desirable for the aquaculture industry. 17β-estradiol (E2) has the potential to induce the male-to-female sex reversal of decapod species. However, the mechanisms behind it remain poorly understood.
View Article and Find Full Text PDFSci Rep
January 2025
Key Laboratory for Stem Cells and Tissue Engineering Ministry of Education, Guangdong Provincial Key Laboratory of Brain Function and Disease, Institute of Spinal Cord Injury, Department of Histology and Embryology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China.
Neuromuscular diseases usually manifest as abnormalities involving motor neurons, neuromuscular junctions, and skeletal muscle (SkM) in postnatal stage. Present in vitro models of neuromuscular interactions require a long time and lack neuroglia involvement. Our study aimed to construct rodent bioengineered spinal cord neural network-skeletal muscle (NN-SkM) assembloids to elucidate the interactions between spinal cord neural stem cells (SC-NSCs) and SkM cells and their biological effects on the development and maturation of postnatal spinal cord motor neural circuits.
View Article and Find Full Text PDFBr J Ophthalmol
January 2025
Tissue Engineering and Cell Therapy Group, Singapore Eye Research Institute, Singapore
Background/aims: To identify the risk factors for neuropathic corneal pain (NCP) following corneal refractive surgery and to report its clinical manifestations, imaging and proteomic characteristics.
Methods: This 1 year prospective cohort study included 100 eyes that underwent small incision lenticule extraction (SMILE) or laser-assisted in situ keratomileusis (LASIK). Ocular surface assessments, in-vivo confocal microscopy scans, tear neuromediators and proteomics analyses were performed.
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