RESUMO
La distrofia miotónica congénita (DMC) está causada por una mutación genética consistente en el aumento de repeticiones del trinucleótido CTG en el cromosoma 19 q13.3. En el periodo neonatal se presenta con hipotonía, decaimiento global, problemas respiratorios y dificultad en la alimentación. Los niños afectados suelen tener una madre con distrofia miotónica, que puede estar asintomática. Los que sobreviven al periodo neonatal suelen mejorar su función muscular, para posteriormente desarrollar una distrofia miotónica y una miopatía progresiva(AU)
Congenital myotonic dystrophy is caused by a mutation involving an expansion of the CTG trinucleotide repeat on chromosome19q13.3. During the neonatal period, it presents with hypotonia, overall despondency, respiratory problems and failure to thrive. The mother of the affected child usually has myotonic dystrophy also, even if she does not manifest overt symptoms and signs. Children who survive the neonatal period often show improvement in muscle function but, later in life, develop myotonic dystrophy and progressive myopathy(AU)
Assuntos
Humanos , Masculino , Recém-Nascido , Distrofia Miotônica/complicações , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/terapia , Hipotonia Muscular/complicações , Reflexo Anormal/genética , Reflexo Anormal/fisiologia , Músculos Faciais/anormalidades , Músculos Faciais/patologia , Asfixia Neonatal/diagnóstico , Asfixia Neonatal/epidemiologia , Biologia MolecularRESUMO
INTRODUCTION: The incidence of type 1 diabetes shows wide geographical variability and heterogeneity. The aim of this study was to determine the incidence and prevalence of type 1 diabetes in children and adolescents ages less than 15 years in the different provinces of Castilla-León. MATERIAL AND METHODS: To determine incidence, all new cases of type 1 diabetes with onset under 15 years of age in 2003-2004 were obtained. Incidence was expressed as the crude value with the corresponding confidence interval and as standardized incidence. The capture-recapture method was used to calculate the completeness of ascertainment. To determine prevalence, all cases of type 1 diabetes in persons ages less than 15 years at 31 December 2004 were obtained. RESULTS: Incidence showed wide variability among the different provinces of Castilla-León. The highest values were found in Segovia (38.77/100,000/year), Valladolid (32.07/100,000/ year) and Avila (23.21/100,000/year) and the lowest in Zamora (8.14/100,000/year). Incidences were highest in the 5-9 years age group in all provinces except Burgos. Prevalence was highest in Segovia (1.54/1,000), Valladolid (1.41/1,000), Avila (1.38/1,000) and Zamora (1.32/1,000) and lowest in Burgos (0.91/1,000). CONCLUSIONS: Castilla-León seems to have one of the highest incidences of type 1 diabetes in Spain; several of its provinces have values similar to those in Northern Europe.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Adolescente , Criança , Pré-Escolar , Humanos , Incidência , Prevalência , Espanha/epidemiologiaRESUMO
Introducción La incidencia de diabetes tipo 1 presenta gran heterogeneidad y variabilidad geográfica. El objetivo de este estudio es determinar la incidencia y prevalencia de la diabetes tipo 1 en niños menores de 15 años en las distintas provincias de Castilla y León. Material y métodos Para el estudio de la incidencia se recogieron los nuevos diagnósticos de diabetes tipo 1 en menores de 15 años en 2003-2004. La incidencia se expresó como valor crudo con su intervalo de confianza y como incidencia estandarizada. Se utilizó el método captura-recaptura para calcular la exhaustividad. Para el cálculo de la prevalencia se recogieron todos los diabéticos tipo 1 menores de 15 años existentes en Castilla y León a fecha 31 de diciembre de 2004. Resultados Las cifras de incidencia son muy heterogéneas en las diferentes provincias de Castilla y León: las más altas se observaron en Segovia (38,77/100.000/año), Valladolid (32,07/100.000/año) y Ávila (23,21/100.000/año) y las menores en Zamora (8,14/100.000/año). El grupo de edad con mayor incidencia fue el de 5-9 años en todas las provincias excepto en Burgos. La mayor prevalencia se observa en Segovia (1,54/1.000), Valladolid (1,41/1.000), Ávila (1,38/1.000) y Zamora (1,32/1.000) y la menor en Burgos (0,91/1.000). Conclusiones Castilla y León parece tener una de las mayores incidencias de diabetes tipo 1 en España, con cifras en varias de sus provincias similares a las de algunos países nórdicos
Introduction The incidence of type 1 diabetes shows wide geographical variability and heterogeneity. The aim of this study was to determine the incidence and prevalence of type 1 diabetes in children and adolescents ages less than 15 years in the different provinces of Castilla-León. Material and methods To determine incidence, all new cases of type 1 diabetes with onset under 15 years of age in 2003-2004 were obtained. Incidence was expressed as the crude value with the corresponding confidence interval and as standardized incidence. The capture-recapture method was used to calculate the completeness of ascertainment. To determine prevalence, all cases of type 1 diabetes in persons ages less than 15 years at 31 December 2004 were obtained. Results Incidence showed wide variability among the different provinces of Castilla-León. The highest values were found in Segovia (38.77/100,000/year), Valladolid (32.07/100,000/ year) and Ávila (23.21/100,000/year) and the lowest in Zamora (8.14/100,000/year). Incidences were highest in the 5-9 years age group in all provinces except Burgos. Prevalence was highest in Segovia (1.54/1,000), Valladolid (1.41/1,000), Ávila (1.38/1,000) and Zamora (1.32/1,000) and lowest in Burgos (0.91/1,000). Conclusions Castilla-León seems to have one of the highest incidences of type 1 diabetes in Spain; several of its provinces have values similar to those in Northern Europe
Assuntos
Criança , Pré-Escolar , Adolescente , Humanos , Diabetes Mellitus , Incidência , Prevalência , Espanha/epidemiologiaRESUMO
El primer caso de doble aneuploidía (48,XXY,+21) fue diagnosticado por Ford, et al en 1959. Actualmente, la frecuencia de la asociación del síndrome de Down y Klinefelter se estima en 0,7 3 100.000 recién nacidos. La apariencia clínica es de fenotipo Down. La vida media de los pacientes con síndrome de Down varía dependiendo de la existencia de complicaciones asociadas; asimismo, no está descrito que la asociación de ambos síndromes implique un acortamiento del pronóstico vital de estos pacientes
The first case of double aneuploidy was reported in 1959 by Ford and associates, who examined a patient with an XXY and trisomy 21 karyotype. The incidence of combined Klinefelter's and Down's syndromes is estimated to be 0.7 per 100 000 newborns. The phenotype is invariably that of Down's syndrome, and the life expectancy of individuals with this syndrome varies depending on the existence of associated complications. There is no evidence to date that the association of the two syndromes implies a shorter life expectancy
