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1.
J Neuromuscul Dis ; 8(1): 53-61, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32925088

RESUMO

We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.


Assuntos
Esclerose Lateral Amiotrófica , Atrofia Muscular Espinal , Distrofia Muscular do Cíngulo dos Membros , Distrofia Muscular de Duchenne , Distrofia Miotônica , Sistema de Registros , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Canadá , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto Jovem
2.
Rev Med Suisse ; 3(93): 39-47, 2007 Jan 10.
Artigo em Francês | MEDLINE | ID: mdl-17354660

RESUMO

Neurology is a polymorphic discipline, with several subspecialties. In 2006, as in the previous years, a huge amount of scientific work focusing on treatment has been published. However, there has not been a true revolution in any of the current therapeutic strategies; rather, we experienced an improvement in the knowledge about several specific "details". This allows to consider more and more variables when administering a specific treatment, therefore, in each subspecialty a move towards a better patient's care has been made. In this contribution, several specialists analyse and interpret new facts about their respective neurological domain.


Assuntos
Doenças do Sistema Nervoso/terapia , Transtornos Cerebrovasculares/terapia , Demência/terapia , Epilepsia/terapia , Humanos , Esclerose Múltipla/terapia , Doenças Neuromusculares/terapia , Doença de Parkinson/terapia
3.
Rev Med Suisse ; 2(54): 544-6, 2006 Feb 22.
Artigo em Francês | MEDLINE | ID: mdl-16562538

RESUMO

Internal carotid artery dissection typically manifests as an unilateral facial or latero-cervical pain, is often accompanied by an oculosympathetic palsy (myosis and palpebral ptosis) and may be followed by cerebral or retinal ischemia. Deficits of the IXth to XIIth cranial nerves or a pulsatile tinnitus have been described. These symptoms challenge our clinical skills and call for an early diagnosis in order to prevent ischemic complications. Both helical computed tomographic angiography and transcranial ultrasonography coupled with Doppler flow colour are excellent first-line imaging techniques. Conventional angiography has been replaced by magnetic resonance techniques as gold standard. In this article, we describe the case of a patient evaluated at our outpatient clinic and review briefly the literature on this topic.


Assuntos
Dor Facial/etiologia , Síndrome de Horner/complicações , Síndrome de Horner/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade
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