Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2006 - Serie V Nº 5
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Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2006; Serie V Nº 5(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Instituto de Salud Carlos IIISumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2006; Serie V Nº 5Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2006 - Serie V Nº 5(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Instituto de Salud Carlos IIINúmero completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2006 - Serie V Nº 5Publication ECEMC: Celebrando los 30 primeros años de un programa singular. Dra. Francisca L. Gallardo Hernández.(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Gallardo Hernández, Francisca L.Publication Revisión: Aspectos clínicos y genéticos de las hamartoneoplasias que pueden ser diagnosticadas en los tres primeros días de vida(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Mendioroz, J; Cuevas Catalina, María Lourdes; Bermejo-Sanchez, Eva; Martínez-Frías, María LuisaThe hamartoneoplastic syndromes are an heterogeneous group of diseases characterized by their risk to develop malignant tumors among other clinical features that vary from one syndrome to another. Most of these pathologies also share endocrinological abnormalities and sometimes, genetic characteristics, including the autosomal dominant mode of inheritance. Therefore, pediatricians must be aware of their main characteristics in order to prevent as soon as possible further complications and to provide the appropiate genetic counseling to the affected patients and their families. In this chapter, we have classified these pathologies in seven different groups according to the more frequently affected tissue by the development of hamartomas. For each of these groups we reviewed the hamartoneoplastic syndromes that have some manifestations at birth. Finally, some practical guidelines are provided for their clinical, genetic diagnosis, and management.Publication Monosomía parcial 10p en un caso con fenotipo similar al síndrome de Ritscher-Schinzel(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Mansilla, E; Rodríguez, Luis; Martinez-Fernandez, Maria Luisa; Rodríguez de Cía, J; García Vicent, C; Martínez-Frías, María LuisaMonosomy 10p is a rare chromosomal anomaly having quite variable clinical expression, showing in some patients the DiGeorge anomaly. Here we report a malformed newborn, whose high resolution G-band karyotype showed an abnormal short arm of chromosome 10 (10p). Fluorescence in situ hybridization (FISH) analysis with the subtelomeric regions probes for 10p/10q showed both signals at normal position, what helped to interpreted the anomaly as an interstitial 10p deletion. Paternal chromosomes were normal. Thus the karyotype was 46,XY,del(10p)( p11.23;p15.1).ish tel(10p)x2 "de novo". The clinical features of this patient are a mixture of some anomalies clearly related to the 10p deletion, together with other that are typical of the Ritscher-Schinzel syndrome (SR-S). We evaluate the possibility of a new chromosomal location of the SR-S.Publication Integración de los aspectos clínicos en el análisis epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: 30 años preparándonos para el futuro(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María Lourdes; Martínez-Frías, María LuisaAn epidemiological analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2005, has been performed. It is remarkable that the ECEMC programme is defined, as stated in its Operating Manual, as a clinical and epidemiological research program on congenital defects, based on an ongoing case-control, hospital-based registry of newborn infants in Spain. The analyzed material corresponds to 2,152,479 total newborns surveyed, of which 34,066 (1.58%) had congenital defects detected during the first 3 days of life. All these infants with congenital anomalies were analyzed by applying the classification system developed in the ECEMC [Martínez-Frías et al., 1991: Am J Med Genet 41:192-195; Martínez-Frías and Urioste, 1994: Am J Med Genet 49:36-44; Martínez-Frías et al., 2000: Am J Med Genet 90:246-249], based on the most modern concepts in Dysmorphology [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. Infants registered were distributed according to their clinical presentation as isolated, multiply malformed, and syndromes, and other subgroups into these 3 groups. The time distribution of the 3 main groups of clinical presentation was studied and all of them have decreased along the years, probably as a consequence of the impact of interruption of pregnancy of some affected fetuses. Apart from the study for all infants with congenital defects, the clinical presentation of a group of 17 defects (selected according to: their relatively high frequency at birth, or the high morbidity/mortality that they bear, and their monitoring in other countries) was also analysed. There was a considerable clinical heterogeneity in most of them, although some (gastroschisis, hypospadias, or anencephaly) tend to present as isolated anomalies, and other (anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis) appear more frequently associated to other defects. The etiologic distribution of infants with congenital anomalies in the ECEMC resulted similar to that shown by other authors, and the lists of syndromes, classified by their etiology, is also provided, detailing their gene map locations if known (OMIM database accessed in June 2006), and their minimum birth prevalence in Spain (according the ECEMC database). To conclude, a commentary is made on the possibility of including not only clinical and genetic information, but also molecular data in the registries coding systems, in order to integrate all the available biological knowledge in the epidemiological approach to identify the causes of congenital defects, to be prevented.Publication Síndromes muy poco frecuentes(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Cuevas Catalina, María Lourdes; Barcia Ruiz, JM; López Soler, JA; Félix Rodríguez, V; Sanchis Calvo, A; Aparicio Lozano, P; Arroyo Carrera, I; Ayala Garcés, A; Conde Nieto, MC; Egüés Jimeno, J; García González, MM; Rosal Roig, J; Vázquez García, S; Zuazo Zamalloa, E; Mendioroz, J; Bermejo-Sanchez, Eva; Martínez-Frías, María LuisaSince the year 2002, this Section of the Boletín del ECEMC: Revista de Dismorfología y Epidemiología, is dedicated to dysmorphology, cytogenetics and clinical analysis of congenital anomalies, and includes a chapter on syndromes with very low frequency. The aim of this chapter is to summarize the most important characteristics, the etiology, and the mechanisms involved in the selected syndromes. The low frequency of these syndromes, together with their probable decreasing birth prevalence due to the impact of prenatal diagnosis, imply that pediatricians and other health professionals would have less opportunity to know their clinical characteristics. This circumstance together with the overlapping of the clinical features among some of the syndromes, make difficult to perform an early diagnosis, which is important for genetic counselling, and to provide the most suitable treatment to each pacient. The syndromes included are: Aarskog, Freeman-Sheldon, Cleidocranial dysplasia, Noonan, Cardio-Facio-Cutaneous and Costello. In addition, a short summary about the differential diagnosis among Noonan, Cardio-Facio-Cutaneous and Costello syndromes is also included.Publication Análisis de la utilización de medicamentos y otros datos demográficos en la población inmigrante (período 2000-2004)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Rodríguez-Pinilla, Elvira; Mejías, C; Fernández, P; Lucas, V; Martínez-Frías, María Luisa; Grupo de Trabajo del ECEMCObjective: To detect significant variations in variables related to the care of gestation between the immigrant and autochthonous pregnant women in Spain. Material and Methods: Data come from the Spanish Collaborative Study of Congenital Malformations (ECEMC), an ongoing hospitalbased case-control study and surveillance system. Collaborating physicians, identify the cases and control infants, and collect the same information in both groups of children (about 312 data) on reproductive and family history, and prenatal exposures. We have analysed the mothers of the control infants of the ECEMC during the period 2000 to 2004. Results: Of the total of 5,443 control's mothers, 715 were immigrants (13.14%). These immigrant women compared to the Spanish ones, are younger, plan less their pregnancies and realize fewer visits to the gynaecologist during gestation. Regarding to the use of 36 groups of drugs during pregnancy, immigrants consume less vitamins and antianemic preparations (including iron and folic acid) and drugs for thyroid therapy (both thyroid and antithyroid preparations), and more drugs for gynaecological infections and for cardiac therapy. Conclusions: The results strongly suggest that immigrant women have less medical health control during their pregnancies than autochthonous population. Thus, it is necessary to promote campaigns to inform preventive measures to this population.Publication Vigilancia epidemiológica de anomalías congénitas en España: treinta años de existencia del registro del ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Martínez-Frías, María Luisa; Grupo Periférico del ECEMCIn this chapter, the most recent results from the main analyses of epidemiological surveillance carried out systematically in the ECEMC are shown. There has not been any remarkable change with respect to the results of the analyses performed in 2005. The decrease in the neonatal prevalence of the congenital defects that are usually included in the surveillance, continues being a constant, mainly attributable to the impact of the voluntary interruption of gestations (VIG) after the detection of foetal anomalies. It has not been detected any increase in the prevalence that could be correlated to any known variation in the causal factors of congenital defects in Spain. The ability of the ECEMC to break down the data gathered in different periods, and to group them in the diverse geographical-administrative areas, has shown to be useful to correlate the variations in the frequencies with some circumstances contributing to the reality of the problem of congenital defects in our country. For instance, the fact of having gathered data since the previous period to the passing of the law regulating VIGs in Spain, has let to estimate their impact on the neonatal frequency of congenital defects. Moreover, grouping data by Spanish Autonomous Regions, has laid the foundations to assess, even comparatively, the different plans of action and intervention developed in each region. Another important issue is that the immigrant population is getting a considerable fraction of the Spanish population, being very similar the percentage registered by the ECEMC to that published by the INE in the official statistics. Additionally, the availability of data in the ECEMC regarding a wide group of about 312 variables per infant registered, confers a great power and versatility to this programme of epidemiological surveillance, as it allows trying to confirm or rule out the possible relationship of those variables with the incidental variations detected in the frequency or congenital defects.Publication Síndrome de intervalo QT largo congénito(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Centeno Malfaz, F; Bello Martínez, B; Beltrán Pérez, AI; Alcalde Martín, C; López García CThe long QT syndrome (LQTS) is an hereditary disease that produces a malfunction on the sodium and potassium channels of the heart and lengthens the duration of the cardiac repolarization stage. It is characterized by the appearance of syncopes, arrhythmias and even sudden death. There are two variants of the congenital LQTS: the autosomal dominant Romano-Ward syndrome and the autosomal recessive Jervell-Lange-Nielsen syndrome, that is associated with sensorineural deafness and is less frequent than the other type. The diagnosis is made from the clinical criteria, the electrocardiogram and the family history. In the last few years, molecular studies have been developed, opening new possibilities not only for its diagnosis but also for the treatment of these patients.Publication Resultados de la actividad de los Servicios SITTE y SITE durante el año 2005 y análisis de las llamadas por etnia materna(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Rodríguez-Pinilla, Elvira; Fernández Martín, P; Mejías Pavón, C; Lucas, V; Martínez-Frías, María LuisaWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2005. The total number of calls received in both services was 5,385 (953 of them by the SITTE and 4,432 by the SITE). As in the last years, the most frequent enquiry in both services was the drugs exposure during pregnancy. We also analyzed the evolution by years of number of calls to the SITE according to maternal ethnic groupPublication Posters presentados en la XXIX Reunión ECEMC, celebrada en Guadalajara durante los dias 20-21 de octubre de 2006(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Instituto de Salud Carlos III