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Myosin Heavy Chain Myopathy and Immune-Mediated Muscular Disorders.
Vet Clin North Am Equine Pract
January 2025
Large Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI, USA.
Several inflammatory myopathies have an infectious or immune-mediated basis in the horse. Myosin heavy chain myopathy is caused by a codominant missense variant in MYH1 and has 3 clinical presentations: immune-mediated myositis, calciphylaxis, and nonexertional rhabdomyolysis in Quarter Horse-related breeds. An infarctive form of purpura hemorrhagica affects numerous breeds, presenting with focal firm, painful muscle swelling, and subsequent infarction of multiple tissues.
View Article and Find Full Text PDFPostpartum pyogenic sacroiliitis masquerading as sciatic neuropathy.
BMJ Case Rep
January 2025
Department of Orthopedics, SDM College of Medical Sciences and Hospital, Shri Dharmasthala Manjunatheshwara University, Dharwad, Karnataka, India.
Low back pain is common in women, especially during pregnancy and puerperium. Septic sacroiliitis, a rare cause of back pain in the postpartum period can mimic other common causes of low back pain like muscle strain, urinary tract infection, pelvic inflammatory disease, endometritis and intervertebral disc prolapse. The proximity of the sacroiliac joint to the sacral nerve plexus results in septic sacroiliitis frequently presenting with symptoms mimicking intervertebral disc prolapse.
View Article and Find Full Text PDFCharacterization of children with early onset pediatric multiple sclerosis.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany. Electronic address:
Background: Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.
Objective: To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (<11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).
Methods: Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Neuromuscul Disord
January 2025
ERN-NMD Center for Neuromuscular Disorders of Messina - Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:
Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.
View Article and Find Full Text PDFSafety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B).
Neuromuscul Disord
January 2025
Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Basel, Switzerland. Electronic address:
Most patients with Duchenne muscular dystrophy (DMD) are non-ambulant. Preserving proximal motor function is crucial, rarely studied. Tamoxifen, a selective oestrogen receptor modulator, reduced signs of muscular pathology in a DMD mouse model.
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