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[Extracorporeal organ support as a bridging strategy to enable organ donation-a case report with literature review].
Med Klin Intensivmed Notfmed
January 2025
Klinik für Neurologie und Neurophysiologie, Universitätsklinikum Freiburg, Breisacher Str. 64, 79106, Freiburg, Deutschland.
We report the case of a young patient with severe hypoxic brain injury after cardiopulmonary resuscitation, resulting in brain death/death by neurologic criteria (BD/DNC). Consistent with the patient's expressed wishes, treatment was sustained to facilitate organ donation. However, in the context of a severe post-resuscitation syndrome and physiological disturbances resulting from BD/DNC, refractory circulatory shock ensued.
View Article and Find Full Text PDFClinical Manifestations and Treatment Responses in Pediatric Neurofascin 155-IgG4 Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
March 2025
Department of Neurology, Mayo Clinic, Rochester, MN.
Background And Objectives: While it is well characterized in adults, little is known about the clinical features of neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN) in the pediatric population. In this study, we aimed to describe the clinical features and treatment outcomes in children diagnosed with neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN).
Methods: Pediatric and adult patients with NF155-IgG4 AN were identified retrospectively through the Mayo Clinic Neuroimmunology Laboratory database.
Tail Anchored protein insertion mediated by CAML and TRC40 links to neuromuscular function in mice.
PLoS Genet
January 2025
Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St. SW, Rochester, Minnesota 55905, United States of America.
Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis of these syndromes remains elusive, many are caused by genetically inherited mutations. Thus, it is valuable to identify additional genes that can impact motor neuron survival and function.
View Article and Find Full Text PDF[Cognitive behavioral therapy for complex regional pain syndrome].
Schmerz
January 2025
Abteilung für Schmerzmedizin, Berufsgenossenschaftliches Universitätsklinikum Bergmannsheil, Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Deutschland.
Complex regional pain syndrome (CRPS) is often associated with severe mental impairments. Initial pain-related fears in particular appear to be negative predictors for long-term therapy results. Procedures for cognitive behavioral therapy are an important component of treatment.
View Article and Find Full Text PDFHypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow-up of vacuolization and UBA1 clonal dynamics.
Br J Haematol
January 2025
Institut d'Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Barcelona, Spain.
VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized by cytoplasmic vacuoles in myeloid and erythroid precursor cells. Although there is currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom management, with only partial effectiveness. Hypomethylating agents (HMA) have shown promise in VEXAS patients with concomitant myelodysplastic syndrome (MDS), while the efficacy of HMA in VEXAS patients without MDS is largely unknown.
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