Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2010 - Serie V Nº 9http://hdl.handle.net/20.500.12105/57152024-03-28T20:02:54Z2024-03-28T20:02:54ZBoletín del ECEMC: Revista de Dismorfología y Epidemiología 2010; Serie V Nº 9Instituto de Salud Carlos IIIhttp://hdl.handle.net/20.500.12105/140782024-02-23T14:49:37Z2010-12-01T00:00:00ZSumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2010; Serie V Nº 9
2010-12-01T00:00:00ZBoletín del ECEMC: Revista de Dismorfología y Epidemiología - 2010 - Serie V Nº 9Instituto de Salud Carlos IIIhttp://hdl.handle.net/20.500.12105/140772024-02-23T14:49:37Z2010-12-01T00:00:00ZNúmero completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2010 - Serie V Nº 9
2010-12-01T00:00:00ZLa delineación clínica de los síndromes malformativos: Evolución histórica y perspectivas futurasCarey, John Chttp://hdl.handle.net/20.500.12105/140762024-02-23T14:49:36Z2010-12-01T00:00:00Z2010-12-01T00:00:00ZThe Clinical Delineation of Malformation Syndromes: Historical Prospective and Future DirectionCarey, John Chttp://hdl.handle.net/20.500.12105/140752024-02-23T14:49:37Z2010-12-01T00:00:00Z2010-12-01T00:00:00ZSíndrome de Coffin-Lowry: Presentación de un caso y Guías Diagnóstico-evolutivas y AnticipatoriasSanchis, AMartínez Castellano, FAleu, MPí, GBallester, Ehttp://hdl.handle.net/20.500.12105/140742024-02-23T14:49:37Z2010-12-01T00:00:00ZCoffi n-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor delay and growth retardation, large soft hands with distally tapering fi ngers, and other skeletal anomalies. Characteristic features change and become more marked with age but are already apparent by the second year of life. About 20% of patients have paroxysmal drop attacks in response to unexpected noises or tactile stimuli. Sensorineural deafness has been reported, rarely with late onset. Female heterozygotes commonly express the condition to a less severe degree, but psychotic behaviour may also be an occasional manifestation. CLS is caused by mutations in RSK2 gene, located at Xp22.2, which encodes a growth factor-regulated serine-threonine protein kinase in the RASMAPK signalling pathway. Mutations are extremely heterogeneous, and a high rate of new mutations and germinal mosaicism are also reported. Gene expression and protein synthesis, mediated by the transcription factor CREB, play an important role in memory and learning. RSK2 actives CREB by phosphorylation and is also required for osteoblasts differentiation and function, mediated by phosphorylation ATF4. This suggests that loss of RSK2 function may contribute to the cognitive defi cits and skeletal anomalies in CLS patients. A 10-year-old patient with typical phenotype is described here. He and his mother have a new mutation (c.407C>T) not previously described. We review clinical, etiologic, diagnostic and molecular aspects of CLS.
2010-12-01T00:00:00ZSíndrome de Desorganización: Características y descripción del primer caso registrado en el ECEMC.González de Dios, jBermejo-Sanchez, EvaMestre, JRuipérez. CMoya, MCuevas Catalina, María LourdesMartínez-Frías, María Luisahttp://hdl.handle.net/20.500.12105/140732024-02-23T14:49:37Z2010-12-01T00:00:00ZThe mouse mutant disorganization (Ds) is an autosomal dominant gene which is lethal in homozygosis, with complete penetrance in heterozygosis. Its expression exhibits an exceptional variety of unusual developmental anomalies in structures derived from various germ layers. Several patients with similar diverse and intriguing anomalies have been reported, raising the possibility of the existence of a human homologue of Disorganization syndrome (DS). In some cases, children with amniotic bands sequence could have a mouse mutant disorganization. Because of this, many children with amniotic bands sequence (ABS) and with abdominal wall defects and other malformations, have been included in cases of DS, concluding that human homologue for DS may be the cause of at least some examples of ABS. Amniotic bands can destroy any structure because they interrupt the blood circulation, leading to encephalocele (actually pseudo-encephalocele), duplication, “cleft lip” and amputations of parts, that stick to other body sites. Before the diagnosis, a detailed analysis should be made to identify primary and secondary malformations. In 1995, the GATA4 gene was mapped at chromosomes 14 and 8 in mice and humans, respectively. GATA4 protein is implicated in the organogenesis processes, particularly in the endoderm and mesoderm formation and their derivatives. The knock-out mice to produce the GATA4 protein are lethal. We describe a female newborn at term presenting with imperforate anus, recto-vestibular fi stula, lipomeningocele and lumbosacral skin appendage with three rudimentary fi ngers. The similarity between the proband´s anomalies, those in previously reported cases and those found in mice support the possibility that this is the fi rst case of Disorganization syndrome in ECEMC. Therefore, its frequency in our registry is less than 1:2,600,000 newborns.
2010-12-01T00:00:00ZFosa nasal supernumeraria, una extraña malformación congénita. Primer caso registrado por el ECEMCCid-Galache, PGómez-Vida, JMOlivares-Sánchez, LPérez-Iañez, RCasas-Gómez, JBroncano-Lupiáñez, SRodríguez-Leal, Ahttp://hdl.handle.net/20.500.12105/140722024-02-23T14:49:36Z2010-12-01T00:00:00ZSupernumerary or accessory nostrils are a very rare type of congenital nasal anomaly, with only a few cases reported in the literature. They can be associated with other malformations such as cleft palate and they can be unilateral or bilateral, with most cases reported being unilateral. The accessory nostril may or may not communicate with the ipsilateral nasal cavity, probably depending on the degree of embryological progression of the anomaly. A case of double supernumerary nostril with no nasal cavity communication and with an otherwise normally developed nose is presented. The surgical treatment is described and the different speculative theories related to the embryogenesis of supernumerary nostrils are also reviewed.
2010-12-01T00:00:00ZAnálisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicosMartínez-Frías, María LuisaBermejo-Sanchez, EvaCuevas Catalina, María LourdesGrupo Periférico del ECEMChttp://hdl.handle.net/20.500.12105/140712024-02-23T14:49:36Z2010-12-01T00:00:00ZHere it is presented the analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2009. Among a total of 2,561,162 newborns surveyed, 38,503 (1.50%) had congenital defects detected during the fi rst 3 days of life. This group of malformed infants was distributed according to their clinical presentation as isolated (73.98%), multiply malformed (13.51%), and syndromes (12.52%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.46% of genetic cause, 20.40% multifactorial, 1.33% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.81%. 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 identifi ed and their minimal frequency values are also presented, separated by type of cause. Finally, the distribution of cases with birth defects by ethnic groups is also analysed, as well as the proportion of autosomal dominant and recessive syndromes, and also those due to both numerical and structural chromosomal alterations in all the ethnic groups. Due to the small samples in most groups, the differences are not statistically signifi cant, except for autosomal recessive syndromes that are signifi cantly more frequent in Gypsies than in the white groups (both native and foreigner), the black group, and the one of Other (including mix groups).
2010-12-01T00:00:00Z¿Qué hay en el ADN no codifi cante?Gómez-Skarmeta, José Luishttp://hdl.handle.net/20.500.12105/140702024-02-23T14:49:36Z2010-12-01T00:00:00ZMore than 95% of our DNA is non-coding. This does not mean that 98% of the genome has no role at all, on the contrary. But, what is it there for? Part of this DNA contains cis-regulatory sequences that control when, where and how much a gene is transcribed. Cis-regulatory sequences can activate (enhancers) or suppress (silencers) transcription. These enhancers or silencers can be very far from the promoter they act on, or even in introns of adjacent genes. Some of them can control several neighboring genes at the same time. These sequences are therefore called Locus Control Regions. In addition, certain cis-regulatory sequences can also prevent the action of enhancers or silencers on promoters when they lie in between. These types of sequences are called insulators, and play essential roles in generating different regulatory landscapes for neighboring genes. Despite their essential function in gene regulation, and in contrast to coding sequences, their language is mostly unknown. This prevents their identifi cation in the genome just based on their DNA sequences. Therefore, the goal for the next decade is to unravel this language and identify all cis-regulatory elements in the human genome and their implication in human diseases associated with mutations in non-coding DNA.
2010-12-01T00:00:00Z¿Qué son los Microarrays? Aplicación al diagnóstico de anomalías congénitas.Sánchez-Izquierdo, MDMartinez-Fernandez, Maria LuisaMartínez-Frías, María Luisahttp://hdl.handle.net/20.500.12105/140692024-02-23T14:49:36Z2010-12-01T00:00:00ZArrays are made up of small fragments of DNA from known locations within each chromosome, and labelled probes that bind covalently to a silica or glass surface in a specifi c position (hence the name in silico). Both the sequence and genomic position of each probe are recorded in a database associated with a computer analysis program. These sensors detect changes in gene sequence, particularly in the number of copies, but also in the methylation status or heterozygosity. There are many different types of arrays available and it is possible to differentiate between them in terms of density, distance and the number of probes that they contain, as well as their distribution throughout the genome. In this paper we review the different types of arrays and the current situation in diagnosing patients with birth defects.
2010-12-01T00:00:00ZAnálisis clínico-epidemiológico de las niñas recién nacidas con síndrome de Turner y de aquellas con tres cromosomas XAceña, Mª IsabelMacDonald, AlexandraMartinez-Fernandez, Maria LuisaBermejo-Sanchez, EvaMartínez-Frías, María Luisahttp://hdl.handle.net/20.500.12105/140682024-02-23T14:49:37Z2010-12-01T00:00:00ZAs far as we know, this article represents the fi rst epidemiological analysis of two series of consecutive newborn infants who presented with monosomy X or three X chromosomes, using data from ECEMC’s case-control study. For this analysis, four groups of newborn girls were used: infants with 45,X, those with 47,XXX, all other newborn females with congenital defects, and the group of female controls. Two types of comparative analyses between those groups were performed: the fi rst includes the study of anthropometric variables at birth, and of the maternal and paternal ages; the second approach analyzes the relative frequency of each congenital defect in the two groups of girls with 45,X, and 47,XXX. To do this, we divided the frequency of each defect observed in newborn females with 45,X and 47,XXX, by the corresponding frequency observed in the group formed by the females with other birth defects. The value of this quotient for each anomaly, offers the times each defect is more (or less) frequent among the girls with each chromosomal alteration than in the group of newborn girls with other defects. Results from the fi rst group of analyses: These showed signifi cant differences for: a lower birth weight in 45,X infants (Table 2), who only differ in the gestational age (Table 4) from the group of control females, having an OFC lower than that of the two reference groups (Table 4). However, regarding the newborn length (Table 5) of both 45,X and 47,XXX infants, it was lower than among the two reference groups. Finally, regarding the analyses of the parental ages (Tables 6,7), the differences are established in relation with a statistically significant higher maternal age in infants having three X chromosomes than the other three groups. Moreover, the analyses of the mean parental ages differences (Table 8), suggest that the extra X chromosome in infants with 47,XXX, is of maternal origin. Results from the second group of analyses: The clinical analyses showed that newborns with 45,X have many more congenital defects than the group presenting with three X chromosomes. In addition, this approach depicts those defects that are signifi cantly more frequent (expressed as the number of times they are more frequent) in each of the two series of infant girls with 47,XXX and 45,X (Tables 9 and 10, respectively) than in the group constituted by the rest of newborn girls (within the same period of time and hospitals). Moreover, it is also shown that other birth defects have the same frequency in the three groups of girls with congenital anomalies, which suggests that they may not be related with the chromosomal abnormality, but attributable to the population risk. Conclusions: With consecutive series of newborn infants with congenital defects, we can structure series of cases with the same type of cause. This is highly valuable since this allows us to defi ne both the spectrum of birth defects for each cause and the type of defects that are specifi cally associated with the cause. This information is of enormous importance either for prenatal diagnosis, or for a correct diagnosis and prognosis, including the anticipatory guidance.
2010-12-01T00:00:00ZInforme de Vigilancia Epidemiológica de anomalías congénitas en España: Datos registrados por el ECEMC en el período 1980-2009Bermejo-Sanchez, EvaCuevas Catalina, María LourdesMartínez-Frías, María LuisaGrupo Periférico del ECEMChttp://hdl.handle.net/20.500.12105/140672024-02-23T14:49:37Z2010-12-01T00:00:00ZThis report is delivered annually by ECEMC (Spanish Collaborative Study of Congenital Malformations), a research programme on congenital anomalies, based on data from its ongoing, hospital-based, case-control registry of newborn infants in Spain. It has surveyed more than 2.7 million births, and studied and gathered data on more than 40,800 consecutive infants with congenital anomalies and a similar number of healthy controls. Present coverage of the registry surpasses 20.4% of total births in Spain. The global frequency of infants with congenital defects has signifi cantly decreased along the time, from 2.22% in the base period (1980-1985), to 0.98% in 2009, mainly as a consequence of the impact of elective termination of pregnancy (eTOP) after the diagnosis of foetal anomalies in a proportion of affected pregnancies. eTOP is legal in Spain since 1985. The global decrease reaches statistically signifi cant levels in many of the participating hospitals and most Spanish Autonomic Regions (see Fig. 1). Extremadura is the only Autonomic Region in which an increase was detected, probably due to methodological issues in the base period and the referral of complicated pregnancies due to congenital defects to other regions, both causing a low frequency; since then, the obstetrical and neonatological assistance have considerably improved, leading to a higher detection of cases born at this region. A group of 33 defects were selected due to their relatively high base frequency and/or the morbidity/mortality associated to them, and the evolution of their frequency along the time was studied. Most of them decreased, and the only increases were observed for heart/great vessels defects and unilateral renal agenesis, possibly due to improving resources for their detection, whether pre or Postnatal. Temporal-spatial analyses of the frequency were performed for a group of 18 defects and many statistically signifi cant decreases were observed in most Spanish Autonomic Regions. There were also some increases: for anotia/microtia, diaphragmatic hernia and gastroschisis in the Balearic Islands. Regarding anotia/microtia, the increase was attributable to the birth of 3 cases in year 2009, without any apparent common denominator among the cases registered, apart from the area of birth, from which a causal relationship could be inferred; nevertheless, the frequency in 2009 does not differ from the global for all the other regions in the same year. The increases for diaphragmatic hernia and gastroschisis were due to the birth of one case presenting with both defects in a multiple congenital anomaly pattern. Some geographical heterogeneity could be detected in 2009 for Down’s syndrome and hypospadias. For Down’s syndrome, the heterogeneity was attributable to the relatively high frequency registered in the Región de Murcia; however,most of the cases were born to mothers aged 35 years or older. Regarding hypospadias, the heterogeneity was due to the relatively high frequency observed in Castilla y León and Principado de Asturias; in both autonomic regions the cases presented the defect isolated, and apparently did not share any other characteristic that could provide clues on some causal agent specifi cally linked to these areas. The ethnic origin of cases and foreign extraction of their parents were also analysed. All the ethnic groups had a risk for congenital anomalies that was higher than for the native white group. The group of foreign parents has increased along the time, and it is more frequent among cases than among controls (thus, a higher risk for congenital defects could be inferred for the group of foreigners). In conclusion, ECEMC has demonstrated to be an effective programme to perform the epidemiological surveillance of congenital anomalies in Spain since its creation in 1976. It has achieved a valuable system “with comprehensive collection that can be used to monitor trends, identify clusters that may require investigation, evaluate the effectiveness of screening and interventions for treatment and prevention, and allow research into the prevention of congenital anomalies”, as recently proposed by Bower et al. [MJA 2010;192(6):300-301]
2010-12-01T00:00:00ZConsumo de Cafeína en el Embarazo en Nuestro Medio y Riesgo para el Desarrollo Embrionario/FetalRodríguez-Pinilla, ElviraReal-Ferrero, Mª MontserratMejías, ConsueloGarcía-Benítez, Mª ReglaFernández, PalomaGrupo Periférico del ECEMCMartínez-Frías, María Luisahttp://hdl.handle.net/20.500.12105/140662024-02-23T14:49:36Z2010-12-01T00:00:00ZCaffeine is the most used psychoactive substance in the world. The objectives of this work are to study the consumption of caffeine during gestation in our country and its impact on weight, height and head circumference of newborns and analyze the risk for congenital malformations in the exposed newborns during the fi rst trimester of pregnancy. We used the data of the ECEMC (Spanish Collaborative Study of Congenital Malformations) from 1987 to 2008. In our country 56.18% of pregnant women consume beverages containing caffeine. During the analyzed period, coffee consumption decreased, while caffeinated soft drink and tea consumption increased. We observed no consistent association between caffeine intake and foetal growth, once we stratifi ed by smoking, except a very small, but signifi cant, decreasing on height. In the case-control study, we selected 15 entities of congenital defects to be analyzed. We did not observe any signifi cant teratogenic effect. In conclusion, in spite of the lack of correlation between caffeine and congenital malformations found in our study, due to the other pharmacological effects of caffeine (increased heart rate, insomnia, and so on) coupled with the uncertainty of the effects in high doses, we must emphasize that our recommendation is that women restrict as much as possible the intake of caffeine, or keep it below 200 mg / day (this is around two normal cup of coffee) during the time women attempt to become pregnant and during pregnancy.
2010-12-01T00:00:00ZActividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2009. Análisis de la utilización del SITTE por los distintos especialistas médicosMejías-Pavón, CRodríguez-Pinilla, ElviraFernández-Martín, PReal-Ferrero, MMGarcía-Benítez, MRMartínez-Frías, María Luisahttp://hdl.handle.net/20.500.12105/140652024-02-23T14:49:37Z2010-12-01T00:00:00ZDuring 2009, SITTE (aimed at the health professionals) received 889 calls and SITE (intended for the general population) received 4,008. Inquires about medication are the most frequent reasons for consulting both these services. What stands out is the high number of inquiries for psychoanaleptic and psycholeptic drugs, which constitute 25% of all medication queries in SITTE and 22% in SITE. Here we present the yearly trends for the calls made by different medical specialists. Gynecologists are the specialists that have the most contact with SITTE, but calls from primary care physicians and psychiatrists are gradually increasing.
2010-12-01T00:00:00ZResúmenes de los Posters presentados en la XXXIII Reunión Anual del ECEMCInstituto de Salud Carlos IIIhttp://hdl.handle.net/20.500.12105/140642024-02-23T14:49:37Z2010-12-01T00:00:00Z2010-12-01T00:00:00Z