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Pan-neurofascin autoimmune nodoparanodopathy: A case report and literature review.
Medicine (Baltimore)
January 2025
Department of Neurology (Nerve-Muscle Unit), Reference Center for Neuromuscular Diseases "AOC," ALS Reference Center, University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux, Bordeaux, France.
Rationale: Locked-in syndrome (and its variant, completely locked-in state) generally has a high mortality rate in the acute setting; however, when induced by conditions such as acute inflammatory polyradiculoneuropathy, it may well be curable such that an attempt at cure should be systematically sought by clinicians.
Patient Concerns: A 52-year-old man presented with acute tetraparesia and areflexia, initially diagnosed as Guillain-Barré syndrome. Despite appropriate treatment, his condition deteriorated, evolving into a completely locked-in state.
Perioperative Supportive Care Interventions to Enhance Surgical Outcomes for Older Adults With Cancer: A Systematic Review.
JCO Oncol Pract
January 2025
Section of Hematology & Oncology, Department of Medicine, University of Oklahoma Health Sciences Center, Stephenson Cancer Center, Oklahoma City, OK.
Purpose: Older adults with cancer have unique needs, which likely influence surgical outcomes in the geriatric oncology population. We conducted a systematic review to describe the literature focused on perioperative supportive care interventions for older adults with cancer undergoing surgery.
Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we performed a comprehensive search using the Ovid MEDLINE, CINAHL, and Embase databases for literature published from January 2010 to October 2023.
A 5-year Single-center Experience on the Use of Emicizumab Prophylaxis in Children With Severe Hemophilia A With and Without Factor VIII Inhibitors.
J Pediatr Hematol Oncol
January 2025
Department of Paediatric Haematology, NHS Foundation Trust, Birmingham Children's Hospital, Birmingham, UK.
Objective: Emicizumab promotes efficacious hemostasis in persons with hemophilia A persons with hemophilia A with and without inhibitors. Primary analyses of real-world data and clinical trials have shown emicizumab efficacy and safety; however, long-term data are limited.
Methods: This retrospective study was conducted to assess real-world long-term outcomes of pediatric patients on emicizumab in our hemophilia center between the period of February 2018 and September 2023.
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFThe Therapeutic Potential of Low-Intensity Pulsed Ultrasound in Enhancing Gallbladder Function and Reducing Inflammation in Cholesterol Gallstone Disease.
Bioengineering (Basel)
January 2025
Department of Ultrasound, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai 200120, China.
Background: Cholesterol gallstone disease (CGS) is often accompanied by gallbladder contraction dysfunction and chronic inflammation, but effective therapeutic options remain limited. This study investigates whether a low-intensity pulsed ultrasound (LIPUS) treatment can improve gallbladder motility and alleviate chronic inflammation while exploring the underlying mechanisms.
Methods: Gallbladder motility was assessed through in vitro and in vivo contraction tests, while bile condition was evaluated by observing bile crystal clearance.
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