RESUMEN
Las displasias esqueléticas son un grupo muy heterogéneo de trastornos que se caracterizan por una alteración en la organización del tejido óseo, lo que causa una distorsión en su patrón de crecimiento y desarrollo. En 1998, se descibió el caso de cuatro hermanos japoneses, tres varones y una hembra que presentaban una displasia espóndilo-epifisiaria, no descrita anteriormente, asociada con cráneo-sinostosis, cataratas, paladar hendido y retardo mental de diferente grado. Se planteó una probable herencia autosómica recesiva, debido a que las alteraciones afectaban a ambos sexos y los padres eran fenotípicamente sanos, aunque con discreto retardo mental; sin embargo, no fue posible descartar un mosaicismo germinal. El caso que se presenta, trata de un paciente con signos clínicos y radiológicos que coinciden con los previamente descritos. Es producto de padres consanguíneos en la segunda generación, lo cual se sumaría a la presunción ya postulada, de una probable mutación de herencia autosómica recesiva. La presente comunicación, representa el segundo reporte en la literatura, del quinto caso descrito y el segundo grupo familiar con la afección mencionada.
Skeletal dysplasias are a heterogeneous group of disorders characterized by an alteration of the organization of osseous tissue causing a distortion on the growth and development pattern of bones. In 1998, four Japanese sibs were described by the first time, three males and one female who presented a previously undescribed spondylo-epiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and different grades of mental retardation. A probable autosomic recessive inheritance was suggested, but a germinal mosaicism could not be discarded. This is a case report of a patient with clinical and radiological findings similar to the ones previously described, born to second degree consanguineous parents. This supports the postulated presumption of a mutation with an autosomic recesive inheritance. The present comunication represents the fifth case reported in the literature and the second familiar group affected.
Asunto(s)
Adulto , Femenino , Humanos , Recién Nacido , Masculino , Anomalías Múltiples/genética , Fisura del Paladar/genética , Craneosinostosis/genética , Discapacidad Intelectual/genética , Osteocondrodisplasias/genética , Aborto Espontáneo , Consanguinidad , Catarata/genética , Labio Leporino/genética , Colágeno/genética , Genes Recesivos , Trastornos del Crecimiento/genética , Linaje , SíndromeRESUMEN
Climate change and variability is affecting human health and disease direct or indirectly through many mechanisms. Dengue is one those diseases that is strongly influenced by climate variability. In this study we assess potential associations between macroclimatic variation and dengue cases in a western pediatric hospital of Venezuela in an eight-year period. Between 2001 and 2008, 7,523 cases of dengue were reported in the Hospital Agustin Zubillaga, Barquisimeto, Venezuela. Climatic periods marked a difference of 23.15% in the mean incidence of cases, from El Niño weeks (-14.16% of cases below the mean incidence) to La Niña months (+8.99% of cases above it) (p=0.0001). Linear regression showed significantly higher dengue incidence with lower values of Oceanic Niño Index (ONI) (El Niño periods) and lower dengue incidence with higher values of ONI (La Niña periods) (p=0.0002). As has been shown herein, climate variability is an important element influencing the dengue epidemiology in Venezuela. However, it is necessary to extend these studies in this and other countries in the region, because these models can be applied for surveillance as well for prediction of dengue.
Asunto(s)
Cambio Climático , Dengue/epidemiología , Niño , El Niño Oscilación del Sur , Humanos , Incidencia , Factores de Tiempo , Venezuela/epidemiologíaAsunto(s)
Anticuerpos Antiprotozoarios/sangre , Donantes de Sangre , Enfermedad de Chagas/sangre , Enfermedad de Chagas/epidemiología , Trypanosoma cruzi/inmunología , Enfermedad de Chagas/transmisión , Ensayo de Inmunoadsorción Enzimática , Hospitales , Humanos , Estudios Seroepidemiológicos , Trypanosoma cruzi/aislamiento & purificación , Venezuela/epidemiologíaRESUMEN
Skeletal dysplasias are a heterogeneous group of disorders characterized by an alteration of the organization of osseous tissue causing a distortion on the growth and development pattern of bones. In 1998, four Japanese sibs were described by the first time, three males and one female who presented a previously undescribed spondylo-epiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and different grades of mental retardation. A probable autosomic recessive inheritance was suggested, but a germinal mosaicism could not be discarded. This is a case report of a patient with clinical and radiological findings similar to the ones previously described, born to second degree consanguineous parents. This supports the postulated presumption of a mutation with an autosomic recessive inheritance. The present communication represents the fifth case reported in the literature and the second familiar group affected.