نتایج جستجو برای: charcot marie

تعداد نتایج: 11416  

Journal: :Brain : a journal of neurology 2012
Janos Groh Joachim Weis Hanna Zieger E Richard Stanley Heike Heuer Rudolf Martini

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...

Journal: :Archivos de la Sociedad Espanola de Oftalmologia 2015
E J Anaya-Pava R I Cárdenas-Hernández

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...

Journal: :genetics in the 3rd millennium 0
آویسا عباسی avisa abbasi department of genetics, faculty of basic sciences, tarbiat modares university, tehran, iran مجید صادقی زاده majis sadeghizadeh مهرداد به منش mehrdad behmanesh امید آریانی omid ariani مسعود هوشمند masoud houshmand

charcot-marie-tooth disease (cmt) is the most common form of inherited peripheral neuropathy. cmt is genetically and clinically heterogenous group of hereditary motor and sensory neuropathies characterized by areflexia, distal sensory loss and progressive weakness of the distal limb muscles. the x-linked cmt (cmtx) is the second most frequent form of charcot-marie-tooth disease. the dominant cm...

Journal: :European Journal of Human Genetics 2009

Journal: :Revista Médica Clínica Las Condes 2018

Journal: :Medecine sciences : M/S 2004
Michel Fontès

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...

Journal: :Middle East journal of anaesthesiology 2016
Khalid R Alzaben Omar Q Samarah Salameh S Obeidat Oday Halhouli Murad Al Kharabsheh

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...

Journal: :the archives of bone and joint surgery 0
mohammad naghi tahmasebi shariati hospital, tehran university of medical siences, tehran, iran gholamreza ghorbani amjad shariati hospital, tehran university of medical siences, tehran, iran mohammad hasan kaseb imam khomeni , tehran university of medical siences, tehran, iran kaveh bashti shariati hospital, tehran university of medical siences, tehran, iran

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...

Journal: :Arquivos de neuro-psiquiatria 2015
Gustavo M de Almeida Francisco M B Germiniani Hélio A G Teive

The authors review the most important contributions of Pierre Marie to the elucidation and description of several neurological diseases, such as Charcot-Marie-Tooth's disease and hereditary cerebellar ataxia, as well as his contributions to Internal Medicine, including his pioneering studies on acromegaly, ankylosing spondylitis, and hypertrophic pulmonary osteoarthropathy. His works led to inc...

Journal: :The New England journal of medicine 2010
James R Lupski Jeffrey G Reid Claudia Gonzaga-Jauregui David Rio Deiros David C Y Chen Lynne Nazareth Matthew Bainbridge Huyen Dinh Chyn Jing David A Wheeler Amy L McGuire Feng Zhang Pawel Stankiewicz John J Halperin Chengyong Yang Curtis Gehman Danwei Guo Rola K Irikat Warren Tom Nick J Fantin Donna M Muzny Richard A Gibbs

BACKGROUND Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic changes can be complicated. Comprehensive diagnostic assays must therefore identify all possible DNA c...

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