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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
Prediction of facial nerve outcomes after surgery for vestibular schwannoma using machine learning-based models: a systematic review and meta-analysis.
Neurosurg Rev
January 2025
Department of Neurological Surgery, University of Virginia, Charlottesville, VA, USA.
Postoperative facial nerve (FN) dysfunction is associated with a significant impact on the quality of life of patients and can result in psychological stress and disorders such as depression and social isolation. Preoperative prediction of FN outcomes can play a critical role in vestibular schwannomas (VSs) patient care. Several studies have developed machine learning (ML)-based models in predicting FN outcomes following resection of VS.
View Article and Find Full Text PDFStreamlining the Journey of Research Into Clinical Practice: Making Your Patients and Practice Flourish Evaluation and Treatment of Pyogenic Spondylodiscitis of the Spine: AO Spine Knowledge Forum Trauma and Infection.
Global Spine J
January 2025
Department of Orthopaedic Surgery, Rothman Institute, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
Study Design: Literature Review with clinical recommendations.
Objective: To highlight impactful studies on pyogenic spondylodiscitis (PS), identified by the AO Spine Knowledge Forum Trauma and Infection, with recommendations for their integration into clinical practice.
Methods: Five influential studies on PS that have the potential to shape current practice in spinal infections were selected and reviewed.
Modulation of Stemness and Differentiation Regulators by Valproic Acid in Medulloblastoma Neurospheres.
Cells
January 2025
Cancer and Neurobiology Laboratory, Experimental Research Center, Clinical Hospital (CPE-HCPA), Federal University of Rio Grande do Sul, Porto Alegre 90035-003, RS, Brazil.
Changes in epigenetic processes such as histone acetylation are proposed as key events influencing cancer cell function and the initiation and progression of pediatric brain tumors. Valproic acid (VPA) is an antiepileptic drug that acts partially by inhibiting histone deacetylases (HDACs) and could be repurposed as an epigenetic anticancer therapy. Here, we show that VPA reduced medulloblastoma (MB) cell viability and led to cell cycle arrest.
View Article and Find Full Text PDFTranscriptomic and Functional Landscape of Adult Human Spinal Cord NSPCs Compared to iPSC-Derived Neural Progenitor Cells.
Cells
January 2025
Department of Neurosciences, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
The adult human spinal cord harbors diverse populations of neural stem/progenitor cells (NSPCs) essential for neuroregeneration and central nervous system repair. While induced pluripotent stem cell (iPSC)-derived NSPCs offer significant therapeutic potential, understanding their molecular and functional alignment with bona fide spinal cord NSPCs is crucial for developing autologous cell therapies that enhance spinal cord regeneration and minimize immune rejection. In this study, we present the first direct transcriptomic and functional comparison of syngeneic adult human NSPC populations, including bona fide spinal cord NSPCs and iPSC-derived NSPCs regionalized to the spinal cord (iPSC-SC) and forebrain (iPSC-Br).
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