Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2004 - Serie V Nº 3
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Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2004; Serie V Nº 3(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Instituto de Salud Carlos IIISumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2004; Serie V Nº 3Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2004 - Serie V Nº 3(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Instituto de Salud Carlos IIINúmero completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2004 - Serie V Nº 3Publication Biología del desarrollo y genética molecular de los síndromes malformativos: Luces y Sombras de un Sistema Altamente Complejo(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Martínez-Frías, María LuisaPublication Aspectos diagnósticos, etiológicos y genéticos de las ictiosis congénitas al nacimiento(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva; López Grondona, Fermín; Rodríguez-Pinilla, Elvira; Mendioroz, J; Cuevas Catalina, María Lourdes; Barcia, JM; Oliván del Cacho, MJ; Espinosa, MJ; Gómez, F; Aparicio, P; Félix, V; García, A; García, MJ; Vázquez, MS; Centeno, F; García, MM; Marco, JJ; Galán, E; Gómez, H; Blanco, M; López Soler, JA; Paisán LThe Ichthyoses constitutes a large family of genetic skin diseases characterized by dry skin and variable degrees of blisters and scales. There are at least twenty varieties of ichthyosis, with a wide range of severity and associated symptoms, and genetic heterogeneity (autosomal dominant, autosomal recessive, and X-linked inheritance). The clinical symptoms, which are non-specific, may not be apparent. We have attempted to provide a classification of the ichthyoses and some guidance for the diagnosis and management of these conditions. The present classification is based in the type of alteration of the skin layer, the molecular findings, the biochemical characteristics, and the family history.There are three main categories, which include different subgroups of ichthyoses: 1) Those that are caused by an altered process of keratinocytic diferenciation (altered intermediate filaments/keratins). This category includes the following subgroups: a) Harlequin fetus; b) bullous erythroderma ichthyosiformis congenital; c) Ichthyosis bullosa of Siemens; d) Ichthyosis hystrix of Curth-Macklin; and e) Ichthyosis vulgaris. 2) Those that are caused by a deficient formation of the cornified envelope (transglutaminase 1 enzyme deficiency). In this category we include two main subgrups: a) Lamellar ichthyosis AR, which includes i) ichthyosis lamellar (IL1, IL2, IL3, IL4, and IL5), and ii) ichthyosiform erythroderma congenital nonbullous, and b) Nonlamellar ichthyosis and nonerythrodermic congenital ichthyosis AR. 3) Those caused by an abnormal steroid sulfatase (X-linked Ichtyosis). In spite of having only data at birth and the lack of molecular analysis, we attempted to classify the ECEMC cases according to this classification using available clinical data. We also calculated the frequency of this disease identified at birth, and provide some guidance for the clinical diagnosis, the management of the affected newborn, and the information that should be offered to the parents.Publication Síndromes muy poco frecuentes(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Mendioroz, J; Bermejo-Sanchez, Eva; López Grondona, Fermín; Felix Rodríguez, V; Valdivia, L; Rosa, A; Blanco, M; Sanchis, A; Centeno, F; Espinosa Pérez, MJ; Ayala, A; Pérez, JL.; Mousallem, D; Burón Martínez, E; Vázquez García, MS; Rodríguez-Pinilla, Elvira; Martínez-Frías, María LuisaIn an attempt to facilitate the knowledge of the malformation syndromes that have very few frequencies to pediatricians and first health care physicians, particularly to those of rural areas, we have selected six new syndromes. As in previous years, the syndromes are selected from the ECEMC database registry. In this Boletín we include the following syndromes: Townes-Bröcks, MMT, Smith-Lemli-Opitz, Coffin-Siris, Espleno-gonadal fusion, and Silver-Russell syndromes. For each syndrome, we described the most important clinical characteristics, and the present knowledge of their causal factors.Publication Deleción 14q proximal, presentación de dos casos y revisión de la literatura(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) López Grondona, Fermín; Rodriguez, Laura; Mansilla, E; Martinez-Fernandez, Maria Luisa; Martínez-Frías, María LuisaHere we present two unrelated cases that came to our service for families that are looking for information on the diagnostic on malformation syndromes and infants with congenital defects. Both cases show as common signs psychomotor delay, microcephaly, corpus callosum agenesis and inespecific facial phenotype. We perform a high resolution G-bands karyotypes, and both of them showed a "de novo" deletion in the proximal region of a chromosome 14, with different break points but with a common region deleted. The karyotype of the first case was 46,XY, del(14)(q12;q21.1), and the karyotype of the second case 46,XX del(14)(q11.2;q13.1). We discussed the possible candidates genes that could be related with the phenotype and review the different reported cases.Publication Aspectos Clínico-Epidemiológicos de los recién nacidos con anomalías congénitas registrados en el ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María Lourdes; López Grondona, Fermín; Rodríguez-Pinilla, Elvira; Martínez-Frías, María LuisaData gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2003 have been analyzed to study some clinical aspects of congenital anomalies through an epidemiological point of view. Data of the ECEMC correspond to a consecutive series of newborn infants with congenital anomalies detected during the first 3 days of life. A total of 1,941,742 newborns were surveyed, and 31,646 (1.63%) of them presented with congenital anomalies. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, and some other subgroups were also established, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8], based on the most modern dysmorphologic concepts. The 3 forms of clinical presentation are significantly decreasing along the time, mostly as a result of the impact of prenatal detection of anomalies and further interruption of some affected pregnancies. We also studied the distribution by clinical presentation of 17 selected defects. Those defects were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries and it would permit comparisons if necessary. A high clinical heterogeneity is common, as most of them appear in any clinical presentation. Some, such as gastroschisis, hypospadias, anencephaly, spina bifida, cleft lip, or diaphragmatic hernia, tend to present more frequently in their isolated form, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, are usually associated to other anomalies. We performed the etiologic distribution of infants with congenital anomalies, and showed the different types of syndromes identified in the ECEMC and their gene map location, based on the OMIM database, also estimating their minimal prevalence at birth, based on our data. We underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. For these purposes, it is crucial a fluent contact between clinicians and epidemiologists, to enhance possibilities of statistical findings being also clinically relevant. At present, this is even more important to conduct molecular studies on specific groups of patients for investigating the causes of congenital defects.Publication Problemática del diagnóstico de los niños malformados cuyas madres son diabéticas(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Martínez-Frías, María Luisa; Rodríguez-Pinilla, Elvira; Bermejo-Sanchez, Eva; Grupo Periférico del ECEMCTaking into consideration that teratogenic agents do not alter the 100% of exposed pregnancies, we posit that each malformed infant born from a diabetic mother should no be automatically consider as having a diabetic embryofetopathy without a deep evaluation of other potential causal agents. The diagnosis of malformed infants whose mothers were diabetic is not always easy. For instance, if the child only have a cardiac defect, this may be due to maternal diabetes, but also to a big amount of other agents either genetics or environmental. In order to facilitate the diagnosis of infants born of diabetic mothers, we calculated and analyzed the concepts of frequency and specificity. To do this, we used the 33,076 malformed infants of the ECEMC (Spanish Collaborative Study of Congenital Malformations) database. Once we excluded 4,069 cases who had well known syndromes, 759 cases because their mothers had gestational diabetic, and 1,006 with not specification of the diabetic status of their mothers, we get 27,242 malformed infants for the present study. This group was divided in three study groups: the first one was made up with the 38 infants diagnoses as having a diabetic embryofetopathy. The second group included 64 malformed infants whose mothers were diabetics but they were not considered as having a diabetic embryofetopathy. Finally, the third group included the rest of 27,140 malformed infants whose mother had not diabetes mellitus or gestational diabetes. For the study we selected the defects and group of defects included in Table 1. We calculated the relative frequency (FR), by dividing the percentage of each of the studied congenital malformations in the two groups of infants whose mothers were diabetic, by the percentage of the same malformation in the group of infants born of non diabetic mothers. Obviously, all the studied defects, but hypospadias, nevus/angiomas, and digestive atresias (which were included as controls, since they are not considered part of the diabetic embryofetopathy), have to be significantly more frequent in the first group, because the infants were diagnosed based in the presence of these defects in their patterns. But this group permit to understand the concepts of frequency and specificity. In fact, Table 1 shows that while the most frequent defect in this consecutive series of infant born with diabetic embryofetopathy, correspond to vertebral anomalies (44.74%), followed by cardiovascular defects (39.47%), the most specific is sacral agenesis/hypoplasia, because it frequency in this group is 131.56 times higher than in the group of infants of non diabetic mothers. In this table, it is also shows that in the group of malformed infants whose mothers were diabetics, some of them may have diabetic embriofetopathy, but were not diagnoses because the lack of some type of information (such as karyotypes, family history, prenatal exposure to others potential related factors, among others). We discussed the importance of performing the diagnosis of malformed infants born to diabetic mothers taking into consideration that among this group of mothers, we can also observed malformed infants with different type of yndromes that in many cases are clinically indistinguishable from the diabetic embryofetopathy (i.e. Jarcho-Levin or Casamassima syndromes, chromosomal abnormalities...), or with isolated malformations (i.e. cardiovascular), that may, or may not, be related with the maternal diabetes. All these consideration are important, not only because the recurrence risk could be much higher than that of the maternal diabetes, but also because the secular increasing trend in diabetic mothers due to the life style.Publication Intoxicación crónica por monóxido de carbono durante el embarazo: Presentación de un caso(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Fernández-Martín, P; Rodríguez-Pinilla, Elvira; Rato Barrio, B; Dequino, G; Mejías Pavón, C; Martínez-Frías, María LuisaHere we present a case of chronic carbon monoxide (CO) poisoning during pregnancy. The pregnant women suffered from headache, vomiting, dizziness…since the very beginning, which were considered symptoms of her pregnancy. The sudden death of a couple of birds 24 hours after they were located in her kitchen, put the physician on the scent, and when the appropriate analyses were made the CO chronic intoxication was confirmed. We would like to call the attention that the symptoms of the carbon monoxide poisoning during pregnancy could be easily confused with the typical gestation symptoms. Thus, a deep analysis of the maternal characteristics and circumstances should be always done to disregard all the potential risk factors, even for those symptoms that could be attributed to the pregnancy, because the risk for the embryo and fetus could be highly different.Publication Vigilancia Epidemiológica de Anomalías Congénitas en España, en los últimos 24 años(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Martínez-Frías, María LuisaAs a part of the usual surveillance of congenital anomalies performed in the ECEMC (Spanish Collaborative Study of Congenital Anomalies) database, we have analysed the information gathered in the period 1980-2003, during which a total of 1,941,742 newborn infants were surveyed. The ECEMC registry covered 26.48% of total births occurred in Spain in 2002. We have studied the global prevalence of infants with congenital anomalies in 3 different periods: a) before the passing of the law permitting voluntary interruption of gestation -VIG- following prenatal detection of anomalies (1980-85); b) after such passing (1986-2002); and c) year 2003. The baseline frequency of congenital anomalies corresponds to the period 1980-1985. Comparisons with this baseline mainly indicate the impact of VIG on the birth prevalence for defects which are prenatally detectable. The global prevalence continues diminishing over the years, and the significant decrease can also be observed in 13 out of 17 Spanish Autonomic Regions. All these decreases are mostly attributable to the impact of VIG. When studying the time distribution of the frequency of some selected anomalies, as well as their geographical distribution, we have observed that VIG plays an important role. However, it is difficult to get information on VIGs. The problem is that if it is not registered on a routine basis and with complete data on exposures and other variables, it will be impossible to perform analytic studies on the causes of birth defects . A question that has recently raised is the increasing number of immigrants in Spain. We have analysed the distribution of the control group of the ECEMC by country from which the parents come from. On the other hand, we have also analysed the evolution along the time of the proportion of different ethnic groups in the control group. Finally, in spite of the decreasing frequency of congenital anomalies, it should be considered that such decrease is mainly due to the impact of VIG, so we underline the need of investigating in order to reach primary prevention of birth defects, and applying the known preventive measures, getting infants being born healthy.Publication Servicio de Información Telefónica sobre Teratógenos Español (SITTE) y Servicio de Información Telefónica para la Embarazada (SITE): Resultados del año 2003(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004) Dequino, GV; Rodríguez-Pinilla, Elvira; Rato Barrio, B; Mejías Pavón, C; Fernández Martín, P; Martínez-Frías, María Luisa; Regional Government of Andalusia (España); Gobierno del Principado de Asturias (España); Gobierno de Cantabria (España); Regional Government of Castile-La Mancha (España); Junta de Castilla y León (España); Generalitat Valenciana (España); Government of Extremadura (España); Xunta de Galicia (España); Comunidad Autónoma de La Rioja (España); Comunidad de Madrid (España); Gobierno de la Región de Murcia (España); Comunidad Foral de Navarra (España); Instituto de Salud Carlos III; Fundación 1000 sobre Defectos Congénitos; Ministerio de Sanidad, Servicios Sociales e Igualdad (España)Here is presented a summary of inquiries made to our teratology information services, SITTE (for health professionals) and SITE (for the general population), during the year 2003. A total of 4,607 calls to the SITE and 1,257 to the SITTE were received during this year. As in previous years, most of these questions were about risk of pharmacological treatment on embrionary/fetal development. We show the evolution of calls along the time, by type of question, by Spanish regions and within the last five years, regarding the ethnicity of women who called to our TIS, considering the increase in the number of immigrants residents in Spain. Finally, we make a brief analysis to the evolution of number calls to de SITTE according to the medical specialityPublication Posters presentados en la XXVII reunión del ECEMC, celebrada en Zamora durante los días 24-25 de septiembre de 2004(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004-10) Instituto de Salud Carlos IIIPublication Atención en consulta de casos no pertenecientes al ECEMC (casos externos)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2004) Instituto de Salud Carlos III