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Bermejo-Sanchez, Eva

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Eva

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Bermejo-Sanchez

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ISCIII

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ISCIII::Instituto de Investigación de Enfermedades Raras (IIER)

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Vigilancia epidemiológica de anomalías congénitas en España: Análisis de los datos del ECEMC en el período 1980-2006
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2007-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Martínez-Frías, María Luisa; Grupo Periférico del ECEMC
This chapter summarizes the main results of the current epidemiological surveillance of congenital anomalies performed in the Spanish Collaborative Study of Congenital Malformations (ECEMC). This is a research programme developed as a hospital-based case-control study and surveillance system, aimed at investigating the characteristics and causes of congenital defects. It started in 1976, with a common methodology for all the participants in the programme. According to the most recent data, it covers 22.96% of births in Spain. It has been found that the general tendency of the neonatal frequency of congenital defects in Spain is decreasing since the passing, in 1985, of the law allowing voluntary termination of pregnancy (TOP) after the detection of fetal anomalies. The frequency has fallen from the base frequency registered in 1980-1985 (2.22%) up to 1.16% in the year 2006. This general tendency has also been proven for most of the defects under systematic surveillance in the ECEMC. The most noticeable decrease has been observed for the global frequency of Down syndrome, and this decrease is even more pronounced for the oldest maternal ages, as a result of the impact of TOPs. In the analyses by Autonomous Regions (look at the map in Figure 1 to see their location), there was only a statistically significant increase of the global frequency, in Extremadura, that can be attributable to the improvements in the neonatal and obstetrical care in this region, not being necessary to move deliveries at risk to other Autonomous Regions. Regarding the frequency of specific defects, there have been increases in the frequency of esophageal atresia/stenosis in Castilla-La Mancha, anal-rectal atresia/stenosis in Tenerife (Islas Canarias), gastroschisis also in Tenerife, and hypospadias in Castilla y León. For the first two defects, after excluding cases with syndromes with multiple congenital anomalies, they lost statistical significance. For gastroschisis in Tenerife, there were some risk factors among the cases (young maternal age, change in paternity of the different infants of the mother) that could account for the cluster, although it will be closely followed up. For hypospadias, there has not been found any common denominator in the cases that could be considered as the cause of the cluster in Castilla y León, that will also be closely monitored. In conclusion, the ECEMC system of epidemiological surveillance has demonstrated being effective in determining the birth frequency of congenital defects in Spain, its secular trend and geographical distribution, as well as for detecting several increases in the frequency of some congenital defects, leading to a close monitoring of the clusters, which is important for determining their causes and for the prevention of congenital defects, apart from their usefulness in the planning of health and social resources.
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 ECEMC
In 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.
Situación actual en España sobre el diagnóstico etiológico en fetos procedentes de abortos por defectos congénitos. Directrices para un protocolo mínimo
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2009-10) Bermejo-Sanchez, Eva; Martínez-Frías, María Luisa
Since the passing of the Spanish law permitting termination of pregnancy (ToP) after the detection of foetal anomalies, in July 1985, the ECEMC has undertaken the commitment to register the maximum information regarding the cases of ToP due to congenital anomalies. This interest is not only prompted by the need of a proper surveillance of these pathologies, what is important for public health purposes, but also for getting an etiologic diagnosis for each case; although this is only possible by retrieving minimum clinical and non-clinical information, depending on each case. This is important, because not achieving an etiologic diagnosis implies not being able to provide the family with information regarding recurrence risk, the risk for possible carriers among their healthy children, and for future pregnancies, planning prenatal diagnosis, and pre-implantation diagnosis or assisted reproduction for certain pathologies. At present, in Spain, there is no official protocol for the study of foetuses from ToP with congenital anomalies, what precludes from getting prevention in all their different levels, starting by the possibility of having a correct diagnosis. To cover that need, and based on the experience of the ECEMC, we highlight a small protocol with the minimal data to be collected to increase the possibilities to reach to a proper diagnosis, and, therefore, provide the parents with complete information. From the point of view of the health practice, this is the correct way, not only for getting the diagnosis, but because this is the only way to also help to diminish the awful situation of couples undergoing ToP due to foetal malformations.
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, F
Under 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.
Otros aspectos de vigilancia epidemiológica del ECEMC: Evolución temporal y por Comunidades Autónomas, de los nacimientos de la población inmigrante
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2011-12) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva
It is well known that immigration has increased along the time in Spain, especially in the most recent years. We have analyzed data from ECEMC in order to quantify this phenomenon in the sample of 35,441 controls (newborn infants without congenital defects) registered by ECEMC in the period 1980-2009, since the group of immigrants usually has a set of characteristics which increase their offspring’s risk for being born with congenital anomalies. ECEMC gathers information on the birth place and ethnic group of parents and grandparents of both controls and cases registered with congenital anomalies. Most of immigrant parents (62.82%) come from non-european countries. Globally, the Autonomous Regions with the higher percentages of immigrant parents were the Balearic Islands (18%), Community of Madrid (15.84%), Comunidad Valenciana (15.16%) and Catalonia (13.08%). In the year 2009, however, the higher percentages were registered in Catalonia, followed by Community of Madrid, Balearic Islands and Comunidad Valenciana. There has been a statistically significant increase of births from immigrants along the time, from 1.89% of total control births in 1980-1985, up to 23.92% in the year 2009. This increase has been more pronounced for the group of immigrants from non-european countries. Since 1996, the proportion of births from non-European countries is higher than the counterpart of infants being born to European immigrants in Spain. Data from the different Autonomous regions mostly reflect this general tendency. In the groups of immigrants, the most frequent ethnic group was that of whites (96.84% among immigrants coming from European countries, and 41.73% among those coming from non-european countries). There is almost total concordance of data from ECEMC with the official data registered by INE (Spanish National Institute for Statististics). Knowing the magnitude of the different groups of immigrants in Spain is very important in order to properly design the different plans for prevention of congenital anomalies, according to the special risks of each population group
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 Luisa
As 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.
Frecuencia de anomalías congénitas en España: Vigilancia epidemiológica en el ECEMC en el período 1980-2007
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Grupo Periférico del ECEMC; Martínez-Frías, María Luisa
The ECEMC (Spanish Collaborative Study of Congenital Malformations) is a research programme, based on a hospital-based, case-control registry of newborn infants in Spain. It was created in 1976 by María Luisa Martínez-Frías and since then it has surveyed a total population of more than 2.5 million births, and studied more than 38,000 infants with congenital anomalies. The coverage of the registry is 21.18% of total births in Spain. The global frequency of infants with congenital defects in Spain has significantly decreased along the time since the passing of the law (year 1985) permitting termination of pregnancy (ToP) after the diagnosis of fetal defects. Thus, the birth frequency has dropped off from 2.22% in the basal period, to 1.43% in 1986-2006, and 1.17% in 2007. This decrease has also been statistically significant in most of the Spanish Autonomic Regions (see Fig. 1), and in many participating hospitals, and affects most of the defects that are routinely under surveillance. These decreases are considered mainly attributable to the impact of ToP. The only Autonomic Region in which an increase of the frequency was observed, was Extremadura, in which the health care has improved considerably in obstetrics and neonatology, allowing the attention of more complicated pregnancies and infants with serious congenital defects, which in the past were transferred to other regions. With respect to the study of a group of 33 defects, which were selected due to their relatively high base frequency or to the morbidity/mortality that they bear, only the heart/vessels defects and unilateral renal agenesis have increased with time. This must be the result of enhancing possibilities for their diagnosis. From the temporal-spatial analyses, there have been increases in the frequency of anophthalmia/microphthalmia in Baleares, diaphragmatic hernia in Tenerife (Islas Canarias), and omphalocele also in Tenerife. The first one was caused by the birth of just one case in 2007, and no causal agent could be specifically linked to the Balearic Islands. Regarding diaphragmatic hernia in Tenerife, after excluding one case with Brachmann-de Lange syndrome, the increase lost its statistical significance, and apparently there was not any common denominator among the other cases registered. With respect to the increase of omphalocele in Tenerife, this was due to the birth of 2 cases in 2007, without any known common characteristic from which a causal relationship could be inferred. Given that there were 2 defects the frequency of which has increased in Tenerife, it could be thought that they could be somehow related. However, omphalocele and diagphragmatic hernia are etiologically and pathogenetically different, so these findings must rather be independent. As in previous years, the ECEMC system of epidemiological surveillance has demonstrated being the only system in Spain to determine the birth frequency of congenital defects in this country, its evolution along the time, and their comparative geographical as well as temporal-spatial distribution. This is the base for causal studies, for planning of healthcare and social resources, and for designing preventive campaigns.
Defectos congénitos oculares: algunos aspectos clínicos y epidemiológicos
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2002-10) Bermejo-Sanchez, Eva; Martínez-Frías, María Luisa
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 epicanthal folds), a total of 1,257 had ocular defects, for a birth prevalence of 7,5 per 10,000 liveborn infants. This figure is similar to that observed by other authors. Microphthalmia is the most frequent ocular defect identified in the ECEMC data base (1,56 per 10,000). The frequency distribution of the ocular anomalies has been quite stable along time. Regarding the distribution by clinical presentation of ocular defects, the most frequent group is that of infants with multiple congenital anomalies (51,63%), followed by those with syndromes (33,97%). In relation to the etiological distribution of the ocular defects, we observed that these defects can be caused by environmental agents (3,74%), or genetic disorders. These last ones can be of monogenic origin (15,83%) of any type of inheritance, or caused by different types of chromosomal anomalies. Taking into account all these observations, some guidances could be delineated with respect to infants with congenital ocular defects. A careful examination searching for other associated anomalies must be performed, particularly of the central nervous system (CNS). On the other hand, after excluding the possibility that the defects could have been caused by an nvironmental factor, a chromosomal study with high resolution (850 bands) techniques has to be done, as well as FISH techniques if indicated, together with a complete family history. All these data together with the early detection of the ocular and other anomalies, are important for treatment and prognosis of the affected patients and to give counselling to the family. Moreover, in infants with CNS anomalies, an ophthalmologic examination should be mandatory and vice versa. Based in the results of our population, we consider extremely important to inform the population about the harmful effects of alcohol drinking during pregnancy, vaccinations and other preventive measures with respect to some infections during gestation.
Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2011-12) Martínez-Frías, María Luisa; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMC; Bermejo-Sanchez, Eva
It is presented here the analysis of the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2010. Among a total of 2,648,286 newborns surveyed, 39,434 (1.49%) had congenital defects detected during the first 3 days of life. This group of infants with congenital anomalies was distributed according to the clinical presentation of their defects as isolated (73.94%), multiply malformed (13.53%), and syndromes (12.53%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.47% of genetic cause, 20.28% multifactorial, 1.35% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.90%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected foetuses. The different types of syndromes identified and their minimal frequency values are also presented, separated by type of cause (Tables 4-10). Finally, the proportion of cases with birth defects by ethnic groups, first including (Graph 8) and then excluding (Graph 9) two groups of whites, the autochthones and the immigrant whites group. Due to the small samples in most non-white groups, the differences are not statistically significant, except for a significant higher frequency among Gypsies than in the white groups (both native and foreigner), the black group, and the one of Other (including mix groups).
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 L
The 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.