RESUMEN
No disponible
Asunto(s)
Humanos , Aplicaciones Móviles , Uso del Teléfono Celular , Comunicación , Familia , Consulta Remota/métodos , Consulta Remota/estadística & datos numéricosRESUMEN
No disponible
Asunto(s)
Humanos , Enterovirus , Infecciones por Enterovirus/epidemiología , España , Centros de Atención TerciariaRESUMEN
BACKGROUND: Array-based comparative genomic hybridization (aCGH) is a molecular analysis method for identifying chromosomal anomalies or copy number variants (CNVs) correlating with clinical phenotypes. The aim of our study was to identify the most significant clinical variables associated with a positive outcome of aCGH analyses to develop a simple predictive clinical score. METHODS: We conducted a cross-sectional study in a tertiary center comparing the genotype and phenotype of the cases. A score was developed using multivariate logistic regression. The best score cutoff point, sensitivity, specificity, positive and negative predictive values, and area under the curve were calculated with the receiver operating characteristic curve. RESULTS: aCGH identified structural chromosomal alterations responsible for the disorder in 13.7% (95% confidence interval [CI]: 10.9-16.5) of our sample (570 patients analyzed by aCGH). Based on the most frequent phenotypic characteristics among patients with a pathogenic CNV, we have created a checklist with the following items: alteration of the cranial perimeter, stature < percentile (p) 3, weight < p3, presence of brain malformations, ophthalmological malformations, two or more dysmorphic features in the same patient, and autism spectrum disorder diagnosis. Using a score ≥1.5 as the cutoff point for the test, we obtained a sensitivity of 82.4% (95% CI: 73.1-91.8) and a specificity of 54.2% (95% CI: 49.7-58.7). CONCLUSION: All individuals with a score of 1.5 or higher should be genetically screened by aCGH. This approach can improve clinical indications for aCGH in patients with neurodevelopmental disorders, but the scoring system should be validated in an external group.
Asunto(s)
Lista de Verificación/métodos , Hibridación Genómica Comparativa/métodos , Secuenciación del Exoma/métodos , Pruebas Genéticas/métodos , Trastornos del Neurodesarrollo/genética , Lista de Verificación/normas , Niño , Preescolar , Hibridación Genómica Comparativa/normas , Estudios Transversales , Femenino , Pruebas Genéticas/normas , Humanos , Masculino , Trastornos del Neurodesarrollo/diagnóstico , Reproducibilidad de los Resultados , Secuenciación del Exoma/normasRESUMEN
TITLE: Enfermedad por deposito lisosomal con peculiaridades diferenciales: gangliosidosis GM1 tipo II.
Asunto(s)
Gangliosidosis GM1/diagnóstico , Anomalías Múltiples/genética , Células Cultivadas , Niño , Codón sin Sentido , Femenino , Fibroblastos/enzimología , Fibroblastos/ultraestructura , Gangliosidosis GM1/genética , Gangliosidosis GM1/patología , Heterocigoto , Humanos , Lisosomas/enzimología , Lisosomas/ultraestructura , Mutagénesis Insercional , Mutación Missense , Fenotipo , Trastornos Psicomotores/genética , beta-Galactosidasa/genéticaRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Niño , Enfermedades por Almacenamiento Lisosomal/diagnóstico , Gangliosidosis GM1/diagnóstico , Esfingolipidosis/diagnóstico , FaciesRESUMEN
No disponible
No disponible
