RESUMO
PURPOSE: Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy. METHODS: Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus. RESULTS: Seven of the 21 evaluated cases carried mutations in the cystatin B gene. Diagnosis of ULD was made with a mean delay of 20 years from symptom onset. CONCLUSIONS: This study from a country without previous reports of ULD suggests that underdiagnosis of the syndrome is likely. These findings also indicate that persons with juvenile-onset myoclonus epilepsy with action myoclonus should be analyzed for ULD.
Assuntos
Mutação , Síndrome de Unverricht-Lundborg/diagnóstico , Síndrome de Unverricht-Lundborg/genética , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Consanguinidade , Cistatina B , Cistatinas/genética , Análise Mutacional de DNA , Diagnóstico Diferencial , Emigração e Imigração/estatística & dados numéricos , Feminino , Testes Genéticos , Humanos , Masculino , Mutação/genética , Epilepsia Mioclônica Juvenil/diagnóstico , Epilepsia Mioclônica Juvenil/epidemiologia , Epilepsia Mioclônica Juvenil/genética , Países Baixos/epidemiologia , Estimulação Luminosa/efeitos adversos , Síndrome de Unverricht-Lundborg/epidemiologia , População Branca/genética , População Branca/estatística & dados numéricosRESUMO
The Dutch system of obstetric care is often recommended for midwife-attended births, the high number of home deliveries, and the low rate of intervention during pregnancy and labour. In this contribution, the question is addressed whether processes of medicalization can be demonstrated in the Dutch midwife practice. Medicalization of pregnancy and childbirth is often criticized because it creates dependency on the medical system and infringement of the autonomy of pregnant women. It is concluded that medicalization is present in the practice of Dutch independent midwives, however it is less clear and outspoken than in hospital policies.
Assuntos
Parto Obstétrico , Parto Domiciliar , Tocologia , Salas de Parto , Feminino , Humanos , Países Baixos , Autonomia Pessoal , Gravidez , Cuidado Pré-NatalRESUMO
A 'motion onset VEP' was elicited by the onset of a pattern drift. The amplitude of the most distinct wave (AN200) was determined on the following stimulation conditions: eccentricity, 0 to 23 deg; velocity. 1.5 to 16 deg/s; spatial frequency, 0.19 to 2.1 c/deg; and stimulation field size, 0.2 to 160 deg2, AN200 remained constant at any degree of eccentricity if stimulation field size, velocity, and spatial frequency were M-scaled according to Rovamo-Virsu's M-equations. AN200 decreased as a function of eccentricity if field size and velocity were kept constant (spatial frequency had minimal effect). The size of the cortical representation field (Sc) in this case varied with change in eccentricity (stimulation field size constant). In another experiment, it varied by change in stimulation field size (eccentricity constant). For both conditions, AN200 was proportional to log Sc.