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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2002; Serie V Nº 1 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2002; Serie V Nº 1

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2002 - Serie V nº 1 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2002 - Serie V Nº 1

Defecto de la Zona de Desarrollo primaria del esqueleto axial (Síndrome de Jarcho–Levin, “Fenotipo Jarcho–Levin”) 

We have used data from the Spanish Collaborative Study of Congential Malformations (ECEMC), to epidemiologically analyze anomalies of the axial skeleton, from the clinical, etiological and pathogenetic points of view. Since 1980, a total of 1,847,301 newborn infants were surveyed. Among them, 31,60...

Resultados del laboratorio de citogenética del ECEMC del año 2001. Nuevas técnicas de FISH y su implicación clínica 

We present here the results of the karyotypes found during the year 2001 in the ECEMC cytogenetic laboratory. All of the structural chromosome alterations found during this period were diagnosed using High Resolution G–band chromosomes (550–850 bands) and FISH techniques, including chromoprobe–Mult...

Aspectos Clínico–Epidemiológicos 

We have used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) to epidemiologically analyze some clinical aspects of infants with congenital anomalies. For this purpose all infants of the ECEMC database were classified following the Program ´s methodology, which is expla...

Síndromes muy poco frecuentes 

Many of the malformation syndromes are as very few frequent, that are rarely known by most of the paediatricians and geneticists or our population. This is an important difficulty to establish such diagnoses in affected patients that can remain undiagnosed for a long time, or even never been diagno...

Conceptos básicos sobre metodología bioestadística: Aclaración sobre los términos proporciones, frecuencias relativas, porcentajes y riesgos relativos 

In medical research, it is very common to report results in terms of proportions and relative risks (RR). Unfortunately, the researchers do not always interpret these figures correctly and, sometimes, the media publish erroneous information. By these reasons, in this article we used several example...

Porcentaje de la recurrencia de los defectos del tubo neural (DTN) y sus frecuencias en España: Evolución temporal de las mismas y su posibles causas 

We analysed the birth prevalence of the different types of neural tube defects (NTD) in Spain in four periods of time, as well as their recurrence in our population and their variation along the time and causes. We have used data from the Spanish Collaborative Study of Congenital Malformations (ECE...

Defectos congénitos oculares: algunos aspectos clínicos y epidemiológicos 

We used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), to analyse some clinical and epidemiological aspects of congenital ocular defects. During the study period (April 76 to March 2000) and after excluding infants with Down síndrome (because all of them had epicanth...

Utilización de corticosteroides por vía tópica durante la gestación 

Topical costicosteroids (TC) are relatively frequently used drugs, but little is known of the safety of their use during Pregnancy. Data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), an ongoing hospital– Based case–control study and surveillance system, was analyzed. Th...

Vigilancia Epidemiológica de Anomalías Congénitas en España durante el período 1980–2001 

We analysed the data gathered by the ECEMC Program since 1980 till 2001, in order to study the frequency of congenital defects (CD) among more than 1.800.000 newborn infants in Spain, its evolution over the time, and the birth prevalence of CD in the different Spanish Autonomic Regions (AR). The an...

Resultados de las llamadas recibidas por el Servicio de Información Telefónica sobre Teratógenos Español (SITTE) y por el Servicio de Información Telefónica para la Embarazada (SITE) durante el año 2001 

We present the results of the calls received by the Spanish Teratology Information Services, (SITTE directed to health professionals and SITE directed to general population) during 2001. The total number of calling has been of 5.753, corresponding 1.438 of them to the SITTE and 4.315 to the SITE. T...