RESUMEN
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.
Asunto(s)
Esclerosis Amiotrófica Lateral , Atrofia Muscular Espinal , Distrofia Muscular de Cinturas , Distrofia Muscular de Duchenne , Distrofia Miotónica , Sistema de Registros , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Canadá , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto JovenAsunto(s)
Terapia Antirretroviral Altamente Activa/efectos adversos , Infecciones por VIH/tratamiento farmacológico , Enfermedades Mitocondriales/inducido químicamente , Enfermedades Mitocondriales/fisiopatología , Oftalmoplejía Externa Progresiva Crónica/inducido químicamente , Oftalmoplejía Externa Progresiva Crónica/fisiopatología , Fármacos Anti-VIH/efectos adversos , Blefaroptosis/inducido químicamente , Blefaroptosis/metabolismo , Blefaroptosis/fisiopatología , ADN Mitocondrial/efectos de los fármacos , Didanosina/efectos adversos , Predisposición Genética a la Enfermedad/genética , Humanos , Lipodistrofia/inducido químicamente , Lipodistrofia/metabolismo , Lipodistrofia/fisiopatología , Masculino , Persona de Mediana Edad , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Mitocondrias/patología , Enfermedades Mitocondriales/genética , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Mutación/genética , Músculos Oculomotores/efectos de los fármacos , Músculos Oculomotores/patología , Músculos Oculomotores/fisiopatología , Oftalmoplejía/inducido químicamente , Oftalmoplejía/metabolismo , Oftalmoplejía/fisiopatología , Oftalmoplejía Externa Progresiva Crónica/metabolismo , Recuperación de la Función/fisiología , Factores de Riesgo , TiempoAsunto(s)
Proteínas de Unión al ADN/genética , Miositis por Cuerpos de Inclusión/genética , Análisis Mutacional de ADN , Humanos , Persona de Mediana Edad , Distrofias Musculares/genética , Músculos Oculomotores , Músculos Faríngeos , Proteína II de Unión a Poli(A) , Reacción en Cadena de la Polimerasa , Secuencias Repetidas en TándemRESUMEN
Prior studies describing the relationship between CAG size and the age at onset of Huntington disease (HD) have focused on affected persons. To further define the relationship between CAG repeat size and age at onset of HD, we now have analyzed a large cohort of affected and asymptomatic at-risk persons with CAG expansion. This cohort numbered 1,049 persons, including 321 at-risk and 728 affected individuals with a CAG size of 29-121 repeats. Kaplan-Meier analysis has provided curves for determining the likelihood of onset at a given age, for each CAG repeat length in the 39-50 range. The curves were significantly different (P < .0005), with relatively narrow 95% confidence intervals (95% CI) (+/-10%). Penetrance of the mutation for HD also was examined. Although complete penetrance of HD was observed for CAG sizes of > or = 42, only a proportion of those with a CAG repeat length of 36-41 showed signs or symptoms of HD within a normal life span. These data provide information concerning the likelihood of being affected, by a specific age, with a particular CAG size, and they may be useful in predictive-testing programs and for the design of clinical trials for persons at increased risk for HD.
Asunto(s)
Enfermedad de Huntington/etiología , Repeticiones de Trinucleótidos , Adolescente , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Humanos , Persona de Mediana Edad , Probabilidad , Análisis de SupervivenciaRESUMEN
BACKGROUND: The eosinophilic ulcer is a rare lesion of the oral mucosa that has been infrequently described in the literature. OBJECTIVE: We attempted to characterize the history, demographics, clinical features, histologic features, pathogenesis, and treatment of the eosinophilic ulcer. METHODS: We observed three new cases of eosinophilic ulcer and reviewed the English-language literature. RESULTS: Eosinophilic ulcer occurs in any age group, without sex preference. The most common site in the oral cavity is the tongue, and the average size at diagnosis is 1.6 cm2. These lesions are often ulcerated, may be tender, and are sometimes multiple. The histologic features are characteristic but likely represent a spectrum of related disorders. Most eosinophilic ulcers will resolve spontaneously within a month. Recurrences are uncommon (< 15%). CONCLUSION: The eosinophilic ulcer is a benign, self-limited, reactive process of the oral mucosa of unknown origin. Its histologic features are characteristic but may be confused with atypical histiocytic granuloma and angiolymphoid hyperplasia with eosinophilia or, more importantly, lymphoma. This condition most likely represents a spectrum of related disorders with overlapping clinical and histologic features. After the diagnosis has been histologically confirmed, conservative management is suggested.