RESUMEN
Ultrasound examination performed on a 36-year-old woman at 33 weeks of gestation showed the presence of isolated and bilateral ventriculomegaly in the fetus. Array-based comparative genomic hybridization (array-CGH) performed on uncultured amniocytes at 35 weeks of gestation revealed a 17q21.31 microdeletion. After genetic counseling, the pregnancy was terminated at 37 weeks of gestation. At autopsy, the fetus displayed facial dysmorphic features and triventricular ventriculomegaly. To our knowledge, this is the first case of a 17q21.31 microdeletion detected prenatally. Our report suggests that array-CGH should be performed when severe ventriculomegaly is observed in prenatal ultrasound examination.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/patología , Adulto , Amniocentesis , Encéfalo/patología , Cromosomas Humanos Par 17/genética , Hibridación Genómica Comparativa , Femenino , Humanos , Discapacidad Intelectual/patología , Embarazo , Diagnóstico PrenatalRESUMEN
INTRODUCTION: Epilepsy is a common and disabling disease for patients and their families. The care of these patients is no longer limited to the simple control of seizures, but considers, in a more global way, their quality of life (QOL). Improving the QOL is precisely one of the main objectives of therapeutic education. The aim of this study was to evaluate the impact of educational actions on the global QOL of patients with epilepsy. MATERIALS AND METHODS: This study was carried out between October 2016 and August 2018. 80 patients were included over 18 years old with an epileptic condition diagnosed for at least 6 months and treated in the University Hospital of Caen Normandy in France. They were randomised to either the control group with usual care or the experimental group with the group educational sessions. The overall score for the QOLIE-31 survey was assessed from the inclusion (M0) and 6 months late. RESULTS: At the M0 mark, the score of the control group (58.1 ± 12.3) was significantly lower than that of the experimental group (61.1 ± 14.3). After 6 months, the overall QOL score, was significantly higher for the experimental group compared to the control group (p = 0.002). In the experimental group, the overall score went from 61.1 ± 14.3-69 ± 14.2 and in the control group it went from 58.1 ± 12.3-58 ± 16.2. DISCUSSION: The quality-of-life overall score for patients having participated in educational actions provided by epilepsy specialist nurses improved significantly. Complementary research is necessary to assess the sustainability of these effects and interactions with the caregivers.