RESUMEN
The most frequent neurologic manifestations of hepatitis C virus infection include peripheral neuropathy axonal type and central nervous system (CNS) vasculitis. Affected patients usually have cryoglobulinemia and other signs of vasculitis. Demyelinating lesions, both central and peripheral are rarely described. We present a case of simultaneous peripheral nervous system and CNS demyelination that comes in relapsing episodes, with negative cryoglobulins.
Asunto(s)
Enfermedades Desmielinizantes/complicaciones , Enfermedades Desmielinizantes/virología , Hepatitis C/complicaciones , Enfermedades del Sistema Nervioso Periférico , Adolescente , Encéfalo/patología , Encéfalo/virología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Conducción Nerviosa/fisiología , Enfermedades del Sistema Nervioso Periférico/complicaciones , Enfermedades del Sistema Nervioso Periférico/etiología , Enfermedades del Sistema Nervioso Periférico/virología , Médula Espinal/patología , Médula Espinal/virologíaRESUMEN
Many genes associated with familial forms of the amyotrophic lateral sclerosis (fALS) have been identified in European and North American cohorts. However, little is known about the genetic bases of fALS in Latin America and Brazil, in particular. To address this question, we recruited 107 patients with fALS from 93 unrelated families from Southeastern, Southern, and Northeastern regions of the country. A 3-step diagnostic approach was used: 1) Triplet repeat primed polymerase chain reaction to search for C9orf72 expansions, then 2) fragment digestion to search for the c.166 C>T VAPB variant, and finally, 3) whole exome sequencing for those who tested negative. We identified the genetic cause for fALS in 70% of the families. VAPB and C9orf72 were the most frequent genes (30% and 22%, respectively), followed by SOD1, TARDBP, ANXA11, and FUS. Five novel variants in known ALS genes were found, including the SOD1 Val120Leu and ANXA11 Asp40Tyr, which were seen in 2 unrelated families each. In conclusion, VAPB and then C9orf72 are the genes most commonly related to fALS in Brazil.
Asunto(s)
Esclerosis Amiotrófica Lateral/epidemiología , Esclerosis Amiotrófica Lateral/genética , Proteína C9orf72/genética , Estudios de Asociación Genética/métodos , Variación Genética/genética , Proteínas de Transporte Vesicular/genética , Brasil/epidemiología , Estudios de Cohortes , Proteínas de Unión al ADN/genética , Reacción en Cadena de la Polimerasa , Proteína FUS de Unión a ARN/genética , Superóxido Dismutasa-1/genética , Secuenciación del ExomaRESUMEN
OBJECTIVE: This study examined the effects of facial exercises associated either with mirror or electromyogram (EMG) biofeedback with respect to complications of delayed recovery in Bell's palsy. PATIENTS: Patients with unilateral idiopathic facial palsy were included in this review. INTERVENTIONS: Facial exercises associated with mirror and/or EMG biofeedback as treatment. MAIN OUTCOME MEASURE: Report of facial symmetry, synkinesis, lip mobility, and physical and social aspects. RESULTS: Four studies of 132 met the eligibility criteria. The studies described mime therapy versus control (n = 50), mirror biofeedback exercise versus control (n = 27), "small" mirror movements versus conventional neuromuscular retraining (n = 10), and EMG biofeedback + mirror training versus mirror training alone. The treatment length varied from 1 to 12 months. CONCLUSION: Because of the small number of randomized controlled trials, it was not possible to analyze if the exercises, associated either with mirror or EMG biofeedback, were effective. In summary, the available evidence from randomized controlled trials is not yet strong enough to become integrated into clinical practice.