Abstract Erythropoietin (EPO) was first identified as a regulator of erythropoiesis. Additional studies have demonstrated a myriad of pleotropic effects (eg, an ability to decrease inflammation, oxidative stress, and apoptosis)….
Abstract The utility of induced hypothermia to mitigate injury to the brain has been long debated in medicine, and it may be the most studied neuroprotectant strategy in traumatic brain…
Abstract Despite hundreds of positive preclinical studies and two successful Phase II clinical trials, two large Phase III trials of progesterone treatment for traumatic brain injury were recently ended with…
Keywords Muscular dystrophy, gene therapy, exon skipping, mutation suppression, myostatin, follistatin Introduction Treatment for the muscular dystrophy group of disorders continues to gain momentum based on improvements in therapeutic…
Keywords Glycogen, polyglucosan, rhabdomyolysis, weakness, cramps, enzyme replacement therapy (ERT) Introduction and Background Metabolic myopathies are clinical disorders in which defects of adenosine triphosphate (ATP) production cause muscle dysfunction….
Keywords Orthopedic surgery, pediatric orthopedics, neuromuscular disease, pediatric deformity, scoliosis Introduction Childhood-onset neuromuscular diseases are typically inherited genetic diseases characterized by general neurodevelopmental dysfunction, aberrant muscular function and development,…
Keywords Juvenile idiopathic inflammatory myopathy (JIIM), overlap connective tissue disease, muscle enzymes in JIIM, inclusion body myositis, orbital myositis, myositis specific antibodies, immunogenetics of JIIM, therapy of JIIM Introduction…
Keywords Extraocular, ptosis, strabismus, ophthalmoplegia, pediatric, oculomotor, trochlear, abducens General Principles The extraocular muscles (EOMs) have many anatomic, physiologic, and molecular characteristics distinct from those of other striated muscles….
Keywords Outcome measures, endpoints, trial, neuromuscular disease Introduction: What are Outcome Measures? Good outcome measures are a critical component of any successful therapeutics evaluation program. Although some pediatric neuromuscular…
Keywords Ataxia, cerebellum, episodic ataxia, neurodegeneration, spinocerebellar ataxia Introduction The dominantly inherited ataxias are a heterogeneous group of neurologic disorders that currently include 30 spinocerebellar ataxias (SCAs), the related…
