نتایج جستجو برای: charcot marie tooth
تعداد نتایج: 97261 فیلتر نتایج به سال:
Previous studies in our laboratory have shown that in models for three distinct forms of the inherited and incurable nerve disorder, Charcot-Marie-Tooth neuropathy, low-grade inflammation implicating phagocytosing macrophages mediates demyelination and perturbation of axons. In the present study, we focus on colony-stimulating factor-1, a cytokine implicated in macrophage differentiation, activ...
BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin ...
CASE REPORT We describe a patient diagnosed with Charcot-Marie-Tooth disease, with a 4 months history of bilateral decreased visual acuity and floaters. On examination, he had severe bilateral vitreous opacity and sectoral diffuse vascular sheathing. It could not be linked to some underlying aetiology and did not respond to oral steroids. CONCLUSIONS Publications relating to ocular findings i...
Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Pour communiquer avec les responsables d'Érudit : [email protected] Article « L'acide ascorbique, un médicament de première génération pour la maladie de Charcot-Marie-Tooth de type 1A ? / Ascorbic acid : a first generation drug for Cha...
Charcot-Marie-Tooth disease comprises a group of disorders characterized by progressive muscle weakness and wasting. Reviewing the anaesthetic literature produced conflicting reports about the best anaesthetic options for patients with CMTD; as they are at increased risk of prolonged response to muscle relaxants, malignant hyperthermia and risks of regional anaesthesia. We present a case of the...
multiplanar or global laxity in arthritic knee is rare , most of this patients have neuromuscular disorder (post poliomyelitis , spinal dystrophy) or history of knee trauma. ligament insufficiency and severe bone loss is significant in this patient. the estimated prevalence for the concurrence of charcot marie-tooth (cmt) with myasthenia gravis (mg) suggests an extremely rare event. we have pre...
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