Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2005 - Serie V Nº 4
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Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2005; Serie V Nº 4(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2005; Serie V Nº 4Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2005 - Serie V Nº 4(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2005 - Serie V Nº 4Publication El Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Mayor Zaragoza, FedericoPublication Epidermolisis bullosa (EB): Patogénesis, aspectos clínicos, diagnósticos y genéticos, base molecular, aspectos epidemiológicos, manejo del paciente con EB e implicaciones translacionales del análisis de mutaciones(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva; Marco, J J; Paisán, L; Félix, V; Marugán, V; Huertas, H; Aparicio, P; Sanchis, A; Centeno, F; Ayala, A; Pérez, JL.; Peñas, A; Gomar, JL; Lertxundi. MM; Burón, E; Vázquez, MS; Gómez, H; Barcia, JM; Hernández, FUnder the term "Epidermolysis Bullosa" (EB), there is a heterogeneous group of vesicular disorders that are generally congenital and of genetic origin, and affect skin and often mucosas. It is remarkable the extreme fragility of these epithelia; the vesicles arise spontaneously as well as induced by even slight trauma or the influence of high temperatures. Their content is sero-hemorrhagic and in the scarring can be very difficult. As a consecuence of the scarring processes, joint contractures and fusion of digits (pseudo-syndactyly) can occur. Pathogenetically, EB is caused by abnormal blistering at the basement membrane zone in the dermal-epidermal attachment zone and its surroundings. This is due to alterations in the attachment complexes, and some mutations have been identified in a total of 10 genes expressed in such level. Four main types of EB can be distinguished (simple, junctional, dystrophic and hemidesmosomal), depending on the level at which the cleavage that forms the bulla takes place, although about 30 subtypes have been described. The clinical characteristics or optic microscopy are not adequate for diagnosis, and it is mandatory to perform electron microscopy, immunofluorescent and immunohistochemical studies, as well as mutation analysis if available. Regarding the epidemiological aspects, in the Spanish Collaborative Study of Congenital Malformations (ECEMC), since 1976 up to December 2004, a total of 2,204,264 liveborn infants were controlled and, among them 27 cases have been identified, for a minimum frequency of 0.12 per 10,000 (95% confidence interval:0.08-0.18). It seems generally accepted that the determination of the frequency of EB is subject to multiple biases and registration of cases is always incomplete. We have also reviewed the issues related to management of EB patients by clinicians.Publication Trisomía parcial 7q y monosomía subtelomérica 20p. Presentación clínica de un caso y revisión(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Rodríguez, Laura; Martinez-Fernandez, Maria Luisa; Mansilla, Elena; Blanco Soto, Paula; Martín Sanz, Feliciano; Martínez-Frías, María LuisaThe partial trisomy 7q is characterized by the presence of dysmorphic features, low birth weight, hypotonia, renal and skeletal anomalies, pulmonary hypoplasia and cardiac defects. The subtelomeric 20p monosomy, is a very rare anomaly which has only being reported in a patient with developmental delay and microcephaly, dysmorphism, and seizures. We report on a new case with partial trisomy 7q with facial dysmorphism and psychomotor delay, whose high resolution G-band karyotype showed an abnormal chromosome 20. Fluorescence in situ hybridization (FISH) analysis showed that in the short arm of the chromosome 20 (20p) there was extra material from chromosome 7 origin. Thus the infant has partial trisomy 7q and a subtelomeric monosomy 20p. Paternal chromosomes were normal. The karyotype was 46,XY,add(20)(p13).ish der(20)t(7;20)(q33;p13)(tel20p-)(WCP20-)(tel 7q+) "de novo".Publication Análisis de los principales aspectos clínico-epidemiológicos de los recién nacidos con defectos congénitos registrados en el ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María Lourdes; Mansilla, E; Martínez-Frías, María LuisaSome clinical aspects of the total set of infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2004, have been analyzed through an epidemiological approach. The ECEMC is defined as a clinical-epidemiological research program on congenital defects, and is built on an ongoing case-control, hospital-based registry of newborn infants in Spain. The ECEMC database for the study period is constituted by a total of 32,883 infants with congenital anomalies detected during the first 3 days of life, that represent 1.61% of the total births surveyed (2,045,751). In order to study the clinical presentation of infants with birth defects, the classification system developed in the ECEMC [Martínez-Frías et al., 2002: Rev Dismor Epidemiol V(1):2-8], which is based in the most modern concepts in Dysmorphology, has been applied. The infants were distributed in the 3 main groups of isolated, multiply malformed, and syndromes, as well as some other subgroups. The analysis of the time distribution of the prevalence of the 3 main groups of clinical presentation confirmed a significant decrease for all of them, that may be considered, at least in great part, as a consequence of the impact of the interruption of some affected pregnancies after the prenatal detection of anomalies. After studying the distribution by clinical presentation of 17 defects that were selected (based on their relative high frequency at birth, or the high morbidity/mortality that they bear, and their monitoring in other countries), a high clinical heterogeneity was evident, since most of them are presented as isolated, or associated to other birth defects. Some, such as gastroschisis, hypospadias, or anencephaly, tend to present isolated, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, use to be associated to other developmental abnormalities. The etiologic distribution of infants with congenital anomalies has also been studied, and the different syndromes identified in the ECEMC has been detailed, indicating their respective gene map location if known (based on the OMIM database up to July 2005), as well as their minimum birth prevalence in the Spanish population (based on the ECEMC database). The study concludes highlighting the importance of accurate case definition and classification in clinically homogeneous groups in order to optimize, not only the power of epidemiological studies in investigating the causes of birth defects, but the molecular analysis of patients with accurate clinical diagnoses. Thus, probably molecular genetic studies implemented to birth defects epidemiology will also help to reach the final objective of infants being born healthy.Publication Síndromes muy poco frecuentes(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Mendioroz, J; Bermejo-Sanchez, Eva; Martínez Santana, S; Serna, E de la; Gómez-Ullate, J; Alcaraz, M; Ayala, A; Felix, V; García San Miguel, M; Lara, A; Sanchis, A; Vega, M; Mansilla, E; Cuevas Catalina, María Lourdes; Martínez-Frías, María LuisaAs in previous years, six new syndromes have been selected to be included in this section, aimed to make easier the recognition of syndromes with low-frequency by paediatricians and first health care physicians, particularly those of rural areas. In this Boletín, the following syndromes are included: Megalencephaly-Cutis Marmorata Telangiectatica Congenita syndrome, Van der Woude syndrome, Hay Wells syndrome, Zellweger syndrome, Jeune syndrome and Laurin-Sandrow syndrome. For each syndrome, the most important clinical characteristics, and the present knowledge on their causal factors and mechanisms involved are sumarized.Publication Aproximación al concepto de prevención cuaternaria en Genética y Dismorfología Clínica(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) González de Dios, JPreventive medicine is an important area of health care, mainly in Primary Health Care. Because it is acted on healthy people (in Genetics and Dysmorphology mainly in foetal and neonatal period), preventive medicine needs even stronger supporting evidence (on benefits, harms and costs) than therapeutic and/or diagnostic interventions. The aims of this article are: a) to present the theorical concepts related to screening test in Genetics and Dysmorphology for early diseases detection, with special attention to main potential harm in overdiagnosis (false positive), causing unnecessary anxiety and intervention, and also to screening bias; and b) to present the interesting relation between preventive medicine with two new concepts (quaternary prevention and cascade effect), because it is important to know the clinical and ethical implications of screening programmes and to achieve and evidence-based decision-making in this outstanding area of health. Quaternary prevention is a new concept in preventive medicine (beyond the classical primary, secondary and tertiary prevention) whose objective is to avoid and/or to diminish the unnecessary medical intervention, and is the practical version of the "primum non nocere". Quaternary prevention has a multifactorial origin, in relation to social, cultural, economic, political and/or medical factors. Today, we have the danger to happen towards the "risk culture" and, consequently, to the diagnostic, therapeutic and/or preventive excess, named as cascade effect, with clinical and ethical implications in medical practice. Genetic testing of children is an interesting field in this area of preventive medicine. It is clearly appropriate to perform genetic testing of minors when the problem in question can be rectified, treated, or prevented but the decision is difficult when the risk from the test may be significant, the statistical risk of disease is minimal, and the benefit or early diagnosis is small. Hereditary haemochromatosis, by example, would seem to be an ideal disease for community population-screening with genetic testing, but the major concerns have been the uncertainty surrounding the natural history of untreated disease, informed consent, labelling and stigmatisation among participants that may never develop illness, and genetic discrimination. In Dysmorphology is interesting to know the real value of "guide signs" for posterior diagnostic and screening tests, and we expose to examples on the matter: developmental dysplasia of the hip and Prader-Willi syndrome.Publication La vacuna de la rubéola y el embarazo(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Fernández-Martín, P; Mejías Pavón, C; Rodríguez-Pinilla, Elvira; Acle Jiménez, M; Martínez-Frías, María LuisaRubella is a viral infection that when it occurs during pregnancy, especially during the first trimester, could cause congenital rubella embryophaty (CRE) with devastating consequences for the developing embryo and fetus. CRE includes serious birth defects such as: cataracts, deafness and heart disease, among others. However the frequency of CRE has decreased dramatically since the general use of rubella Vaccine. The immigrant population in Spain constitutes a group of concern for rubella infection among other infectious diseases due to the lack of previous vaccination in many individuals. Thus, a vaccination programme towards immigrants, specially all young women should be considered. Pregnant women should not be vaccinated, and women who are not pregnant should avoid conceiving for at least 28 days following vaccination. However if a vaccination occurs during pregnancy, the potential risk is only theoretical and a tranquilizer counseling should be performed together with a high resolution ecography.Publication Luces y sombras de los estudios de casos y controles. Impacto sobre el conocimiento de las malformaciones congénitas(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Ochoa Sangrador, CPublication Anomalías Congénitas en España: Vigilancia epidemiológica en el último cuarto de siglo (1980-2004)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Martínez-Frías, María LuisaThe main results of the annual surveillance of congenital anomalies performed in the ECEMC (Spanish Collaborative Study of Congenital Anomalies) are presented here. The analysed data correspond to the last 25 years (1980-2004). A total of 2,045,751 newborn infants were surveyed, for an overall coverage of 23.39% of births in Spain. Among those infants, 32,883 were registered because of the presence of congenital defects detected during the first three days of life, for a prevalence of 1.61%. A statistically significant decrease of the global prevalence has been observed after the passing of the law permitting terminations of pregnancy (TOP) following prenatal detection of malformations. According to the ECEMC's data, that decrease can be attributable to the impact of TOP on the neonatal frequency, as there is an increasing number of defects that can be prenatally detected. The global decrease is also observed in most of the 17 Spanish Autonomic Regions, and is statistically significant in 11 of them. After studying the secular trend for some selected anomalies, either globally or by Autonomic Regions, the decrease is the rule. However, given the difficulties to routinely gather data on TOP, the epidemiological and etiological analyses including them are still almost unfeasible. Another circumstance that has to be taken into consideration in any investigation on congenital defects in our country, is the increasing number of immigrant people having infants in Spain, as it has been observed in the ECEMC's data. Finally, the versatility of the ECEMC registry to adapt itself to changes in the surveyed population and in knowledge, is highlighted, as well as the accomplishment, in the ECEMC, of the objectives summarized by the NBDPN (National Birth Defects Prevention Network), from the USA, in their guidelines for conducting birth defects surveillance, edited in 2004.Publication Recetas médicas para nuestro lenguaje enfermo. Con un pequeño glosario de dudas y dificultades inglés-español para dismorfólogos, teratólogos y médicos afines(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Navarro, Fernando APublication Resultados de la actividad de los Servicios de Información Telefónica sobre Teratógenos (SITTE y SITE) durante el año 2004 y análisis del nivel cultural de la población usuaria(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Rodríguez-Pinilla, Elvira; Mejías Pavón, C; Fernández Martín, P; Acle Jiménez, M; Martínez-Frías, María LuisaWe present a summary of the activity of the two teratology information services: SITTE (for health professional) and SITE (for the general population), during 2004. A total of 6.407 calls were received, 1.456 of them were made by health professional and the remaining 4.951 by the general population. Drugs were, one more year, the most common question in either services, specially drugs affecting CNS. We also analyzed the cultural level of the women that used the SITE during the last ten years. The results show that most of the users of the service belong to the higher cultural levels, measured by the level of their educational studies. We conclude that is necessary to consider new strategies particularly aimed to reach to those women with low level of education (or low cultural level).Publication Posters presentados en la XXVIII reunión del ECEMC, celebrada en Alicante durante los días 21-22 de octubre de 2005(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Instituto de Salud Carlos III