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http://dx.doi.org/10.1212/WNL.0b013e318239beb3 | DOI Listing |
Res Sq
December 2024
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Pathogenic variants of cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor.
View Article and Find Full Text PDFJ Pediatr Orthop
December 2024
Division of Orthopaedic Surgery, Department of Surgery.
Background: Achieving adequate pain control is vital for proper rehabilitation, satisfaction, and earlier discharge after anterior cruciate ligament reconstruction. Opioids have traditionally been used for this purpose, however, can be associated with various negative outcomes. As such, multimodal analgesia was introduced to reduce postoperative opioid use.
View Article and Find Full Text PDFMedicina (Kaunas)
November 2024
Department of Physiology, School of Medicine, Demiroglu Bilim University, Istanbul 34570, Turkey.
It is known that critical illness and associated neuromuscular problems begin to appear in patients hospitalized in the intensive care unit (ICU) for more than a week. The goal of this study was to research the role of hydroxychloroquine (HCQ) in the treatment of cytokine storm and critical illness neuromyopathy (CINM) in a rat sepsis model. Rats were assigned into three groups, and a feces intraperitoneal-injection group (FIP) procedure was carried out on 30 rats to induce a model of sepsis for critical illness polyneuromyopathy (CINM).
View Article and Find Full Text PDFBrain Commun
November 2024
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Charcot-Marie-Tooth Type 4C (CMT4C) is associated with mutations in the SH3 domain and tetratricopeptide repeats 2 () gene, primarily expressed in Schwann cells (SCs). Neurotrophin-3 (NT-3) is an important autocrine factor for SC survival and differentiation, and it stimulates neurite outgrowth and myelination. In this study, scAAV1.
View Article and Find Full Text PDFCureus
October 2024
Critical Care Medicine, Mohamed VI University Hospital, Tangier, MAR.
Erythromelalgia is a rare neurovascular condition characterized by episodic burning pain, erythema, and increased temperature of the extremities. This condition, particularly challenging in pediatric patients due to its rarity and the complexities of pain management, often results in significant distress and impaired quality of life. We report the case of a 14-year-old patient who presented with severe primary erythromelalgia.
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