Person:
Martínez-Frías, María Luisa

First Name

María Luisa

Last Name

Martínez-Frías

Institution

ISCIII

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

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Now showing 1 - 10 of 87

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 Luisa
Here 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.
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.
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 Luisa
Monosomy 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.
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.
Reflexiones sobre las Bases Físico-Matemáticas de los Sistemas Biológicos y del Genoma
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2007-10) Martínez-Frías, María Luisa
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
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 Luisa
We 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).
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.