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24,530 results
  • Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. [Journal Article]
    Ann Neurol 2019Burgess R, Wang S, … Scheffer IE
  • CONCLUSIONS: We identified a genetic cause in 69% of patients with EIMFS. We highlight the genetic heterogeneity of EIMFS with 9 newly implicated genes, bringing the total number to 33. Mosaicism was observed in probands and parents, carrying critical implications for recurrence risk. EIMFS pathophysiology involves diverse molecular processes from gene and protein regulation to ion channel function and solute trafficking. This article is protected by copyright. All rights reserved.
  • Deep Infections After Pediatric Spinal Arthrodesis: Differences Exist with Idiopathic, Neuromuscular, or Genetic and Syndromic Cause of Deformity. [Journal Article]
    J Bone Joint Surg Am 2019Sullivan BT, Abousamra O, … Sponseller PD
  • CONCLUSIONS: Deep surgical site infections were more common in genetic and syndromic scoliosis than in adolescent idiopathic scoliosis and kyphosis, but less common than in neuromuscular scoliosis. Adolescent idiopathic scoliosis and kyphosis had the highest ratio of late to early deep surgical site infections. Patients with genetic and syndromic scoliosis had predominantly gram-negative microorganisms, particularly in early deep surgical site infections. Methicillin-resistant S. aureus infection was rare, occurring in only 2 patients with neuromuscular scoliosis. Gram-negative and gram-positive prophylactic antibiotics may be indicated for patients with genetic and syndromic scoliosis after spinal arthrodesis.
  • Assisted standing for Duchenne muscular dystrophy. [Review]
    Cochrane Database Syst Rev 2019; 10:CD011550Pedlow K, McDonough S, … Bradbury I
  • CONCLUSIONS: Since there were no RCTs or quasi-RCTs available to evaluate the effectiveness of standing devices in people with DMD, studies are needed to investigate the effectiveness of standing devices in this population.
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