Person: RodrÃguez-Pinilla, Elvira
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First Name
Elvira
Last Name
RodrÃguez-Pinilla
Institution
ISCIII
Centrre
ISCIII::Instituto de Investigación de Enfermedades Raras (IIER)
CNIC Organization
CNIO Organization
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Publication 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) RodrÃguez-Pinilla, Elvira; MejÃas Pavón, C; Fernández MartÃn, P; Acle Jiménez, M; MartÃnez-FrÃas, MarÃa 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 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) RodrÃguez-Pinilla, Elvira; Fernández MartÃn, P; MejÃas Pavón, C; Lucas, V; MartÃnez-FrÃas, MarÃa 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 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) MartÃnez-FrÃas, MarÃa Luisa; Bermejo-Sanchez, Eva; López Grondona, FermÃn; RodrÃguez-Pinilla, Elvira; Mendioroz, J; Cuevas Catalina, MarÃa Lourdes; Barcia, JM; Oliván del Cacho, MJ; Espinosa, MJ; Gómez, F; Aparicio, P; Félix, V; GarcÃa, A; GarcÃa, MJ; Vázquez, MS; Centeno, F; GarcÃa, 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 Aspectos ClÃnico-Epidemiológicos de los recién nacidos con anomalÃas 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, MarÃa Lourdes; López Grondona, FermÃn; RodrÃguez-Pinilla, Elvira; MartÃnez-FrÃas, MarÃa 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 [MartÃnez-FrÃas 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 Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2007. y análisis de los datos sobre técnicas de reproducción asistida(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) RodrÃguez-Pinilla, Elvira; MejÃas-Pavón, C; Fernández-MartÃn, P; GarcÃa BenÃtez, MR; Real Ferrero, MM; MartÃnez-FrÃas, MarÃa LuisaWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2007. The total number of calls received in both services was 4,665 (834 from SITTE and 3,831 from SITE). We also analyze some aspects of assisted reproductive techniques (ART) in the data of pregnant women who contacted the service (SITE) from April 2006 until December 2007. The result showed that 6% of the pregnant women who called conceive by any type of ART.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) MartÃnez-FrÃas, MarÃa Luisa; RodrÃguez-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 Aspectos ClÃnico-Epidemiológicos de los recién nacidos con anomalÃas congénitas(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, MarÃa Lourdes; López Grondona, FermÃn; RodrÃguez-Pinilla, Elvira; MartÃnez-FrÃas, MarÃa LuisaWe have used the data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2002, in order to epidemiologically analyze some clinical aspects of a consecutive series of malformed newborn infants. Among a total of 1,838,654 newborns surveyed, 30,531 (1.66%) presented with congenital anomalies detected at birth. Data were analysed before and after the pass of the law permitting voluntary interruption of gestation (VIG) following the detection of anomalies in the fetus. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, according to our own classification system [MartÃnez-FrÃas et al, 2002: Rev Dismor Epidemiol V(1):2-8]. The 3 forms of clinical presentation are decreasing along the time, as a result of the impact of prenatal detection of anomalies and further VIG in some cases. We also analyzed 17 defects that 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. Most of them show a high clinical heterogeneity, although some (such as gastroschisis, hypospadias, spina bifida, cleft lip, or diaphragmatic hernia) tend to present in their isolated form, while other (such as anophthalmia/microphthalmia) tend to associate to other anomalies. We also performed the etiologic distribution of infants with congenital anomalies in 3 study periods, and showed the number of cases in which the different types of syndromes were identified, as well as the minimal estimate of their frequency at birth and their gene map location, based on the OMIM database. We emphasize the importance of applying all known primary prevention measures, even more during blastogenesis, at the very early stages of pregnancy. On the other hand, we also underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. In this way, the statistical findings also will be clinically relevant. This is also important for the molecular studies that may give clues on the causes of congenital defects, as epidemiology of Human Genome can contribute to this kind of research, opening big opportunities in this field.Publication Fármacos antipsicóticos y embarazo: resumen de la literatura y experiencia en el ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2009-10) MejÃas-Pavón, C; RodrÃguez-Pinilla, Elvira; Fernández-MartÃn, P; Ortega-Mateo, A; Real-Ferrero, M Monserrat; GarcÃa-BenÃtez, M Regla; Grupo Periférico del ECEMC; MartÃnez-FrÃas, MarÃa LuisaThe antipsychotic drugs are medications about which a considerable number of telephone calls are received in our teratology information services (SITTE and SITE). We present a review of the literature about the use of this group of drugs during pregnancy. On the other hand, in order to assess the experience in the CIAC, we have studied the intake of antipsychotics in the ECEMC and the queries made on these medications to both teratology information services. Our results show that the intake of antipsychotics during pregnancy is low. However, the number of queries about this type of drugs is increasing, both in the SITTE and in the SITE, probably because of the concern they generate due to the lack of clear information about their use during pregnancy.Publication Actividad de los servicios de información sobre teratógenos (SITTE y SITE) durante el año 2008.(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2009-10) Fernández-MartÃn, P; RodrÃguez-Pinilla, Elvira; MejÃas-Pavón, C; GarcÃa-BenÃtez, M Regla; Real-Ferrero, M Monserrat; Ortega Mateo, A; MartÃnez-FrÃas, MarÃa LuisaWe summarize the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population), during 2008. The total number of calls received in both services was 4,910 (943 from SITTE and 3,967 from SITE). This number has increased compared to previous year. The main users of the SITTE (gynecologists 54.96%) and the SITE (pregnant women 79.89%), have asked preponderantly about the use of drugs (70.22% of the SITTE and 37.49% of the SITE phone calls), during ongoing pregnancies at the moment they were calling (82.82% in the SITTE and 85.18% in the SITE). Additionally, we analyze the type of consulted factors and some characteristics of the users to orientate our work more effectively to the actual demand.Publication Resultados de la actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2006 y análisis de la edad materna y del número de embarazos planeados(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2007-10) RodrÃguez-Pinilla, Elvira; MejÃas-Pavón, C; Fernández-MartÃn, PWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2006. We also include a comparative analysis on maternal age and number of planned pregnancies between the population of mothers who called to SITE and the mothers of the ECEMC's controls (as a representative group of the general population). The total number of calls received in both services was 4,876 (898 and 3,978 from SITTE and SITE respectively).