Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2
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Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2Publication La investigación en anomalías congénitas y el Sistema Nacional de Salud(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Arenas-Barbero, JoaquinPublication Síndrome de Johnson-McMillin: Descripción del primer paciente de España(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Martínez-Frías, María Luisa; Arteaga, RM; Martinez-Fernandez, Maria Luisa; Bermejo-Sanchez, EvaThe JMS (OMIM: 147770) is a rare autosomal dominant neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. Morover, some additional features have been described so far (congenital heart defect, cleft palate, mild facial asymmetry, tendency to caries, and mental retardation). Herein we report on a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delay. Interestingly, she also has features that have not been reported yet, such as preauricular pits and tags, broad depressions at the external lateral areas close to the eyes, and an abnormal left lower Eyelid. This phenotype supports the involvement of the ectoderm and neuroectoderm of the first two branchial arches in the embryologic basis of this condition. Indeed, alopecia, dental anomalies, defects of the choanae, part of the palatal valves, hypothalamic axis and hypogonadotropic hypogonadism, of epidermic origin, are derived from the ectoderm. Other defects as craniofacial alterations, including inner ear, preauricular tags, ear pits, and even microtia, and facial palsy, are derived from the neural crest, as also are the cardiac malformations. As far as we have known, the patient described here, represents the first case published from SpainPublication 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), 2012-12) Martínez-Frías, María Luisa; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMC; Bermejo-Sanchez, EvaThis chapter is aimed at epidemiologically analyze the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) during the period 1980-2011. A total of 2,735,086 newborns were surveyed, and 1.47% of them (40,329) had congenital defects detected during the first 3 days of life. This global frequency has significantly diminished along the time, mainly as a consequence of terminations of pregnancy (ToP) after the detection of fetal anomalies. This decrease is very marked for blastogenetic defects. The distribution of cases by clinical presentation of their defects revealed that 73.91% had isolated defects, 13.58% were multiply malformed, and 12.51% had different syndromes. The decreasing trend along the time affects all forms of clinical presentation. The etiologic distribution of infants with congenital defects is also presented: 20.46% had a genetic cause, 1.37% was due to environmental causes, 20.19% were multifactorial, and 57.98% were of unknown cause. The different syndromes identified are listed in Tables 5-11, separated by type of cause, and the minimal estimate of their frequency is also included. A special attention was paid to the distribution of the different types of syndromes (regarding their etiology), by ethnic groups in Spain.Publication Un nuevo paciente con deleción 10p y revisión de la literatura. Estudio de la correlación genotipo-fenotipo(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) MacDonald, Alexandra; Martinez-Fernandez, Maria Luisa; Aceña, María Isabel; Serrano Madrid, ML; Romero-Gil, R; Bermejo-Sanchez, Eva; Martínez-Frías, María LuisaSince the first report by Elliott et al., in 1970, of a patient with partial deletion of the short arm of chromosome 10 (10p), at least 67 further cases have been reported, of which 44 were pure de novo deletions. Two syndromes have been associated with deletions of 10p: DiGeorge 2 syndrome (DGS2) and HDR (Hypothyroidism, sensorineural Deafness and Renal disease). DGS2 (so-named due to its similitude to DiGeorge syndrome) is characterised by congenital heart defects, dysmorphism, hypoplastic thymus with T-cell deficiency, and hypoparathyroidism with hypocalcemia. In 1984, Herve et al. published the first case that associated a deletion of 10p with a clinical picture of DiGeorge, and a critical region, of approximately 1 Mb, in 10p13-p14 was delineated in 1998 by Schuffenhauer et al. On the other hand, HDR syndrome was first described in 1977 by Barakat et al., and in 1997 the syndrome was associated with a deletion of 10p. The observation that such deletions in patients with HDR were outside the DGS2 critical region led to the discovery of a causal gene, GATA3 located in 10p14, which has an important role in embryonic development of the kidney, parathyroids and auditory system. Here we present a patient with a 10p deletion that includes both the DGS2 critical region and GATA3 gene. The propositus’ clinical picture includes facial dysmorphism, unilateral ptosis, unilateral renal agenesis and hypoacusia. We carried out a revision of the literature, as well as a comparative analysis of the clinical characteristics and the cytoband affected, with the aim of correlating the main manifestations with the region of 10p deleted. The results have shown an overlap of clinical features as well as a great variability of manifestations among patients with different 10p deletions. No correlation could be established between the deleted genes and clinical manifestations, thus suggesting the involvement of more complex molecular mechanisms.Publication Informe de vigilancia epidemiológica de anomalías congénitas en España sobre los datos registrados por el ECEMC en el período 1980-2011(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMC; Martínez-Frías, María LuisaCongenital anomalies are a leading cause of perinatal mortality (according to EUROCAT’s data, it reaches a prevalence of 9.4 per 10,000 births). Moreover, the most recent Global Burden of Disease Project estimated that congenital anomalies in 2010 accounted for 732,000 Disability Adjusted Life Years Lost (DALYs) in Western Europe, 274,000 in Central Europe and 898,000 in Eastern Europe. Thus, like other Rare Diseases, congenital anomalies are individually rare but collectively a significant public health issue. This report performed by ECEMC (the Spanish Collaborative Study of Congenital Malformations) is the annual update of the congenital anomalies surveillance report, after having analysed data gathered by this research programme between 1980 and 2011, although ECEMC was created in 1976. It is hospital-based and has a case-control design. The report is based on data from 2,735,086 births surveyed, among which a total of 40,329 presented with congenital anomalies detected during the first 3 days of life. Present coverage of the program is 17.95% of total births in Spain. The time distribution, geographical distribution and spacialtemporal distribution of the frequency of congenital anomalies in Spain were studied. The global frequency of infants with congenital defects has significantly decreased along the time, from the basal frequency registered in 1980-1985 (2.22%) to 1.03% in 2011 (Tables 1 and 3), mainly as a consequence of the impact of terminations of pregnancy after the detection of foetal anomalies (ETOPFA), which has been legal in Spain since the end of 1985. This tendency has also been statistically significant in 14 out of 17 Autonomous Regions and in many participating hospitals (Table 3). Only in Extremadura (see Fig. 1) a significant increase was detected, although the frequency registered in 2011 was not significantly different from ECEMC’s global frequency in the same year. After applying the protocol specifically designed at ECEMC for the study of clusters of birth defects, it was concluded that this increase was probably due to both methodological issues during the first years (with some under-registration of birth defects) and the high quality scrutiny and reporting of newborn infants with congenital anomalies, especially in the province of Cáceres). After correcting the frequency in the different hospitals and Autonomic regions by including ETOPFA cases and referrals to tertiary care hospitals, little changes were observed, mainly due to the difficulties to report ETOPFA cases. The time distribution of the frequency of 33 selected birth defects (Table 4) revealed a statistically significant decrease for most of them, although significant increases were also detected for heart/great vessels defects and unilateral renal agenesis, that were interpreted as a result of the availability of better diagnostic procedures. Also, for the annual distribution of 16 selected birth defects (Graphs-1), significant decreases were observed for all global frequencies except for anotia/microtia and gastroschisis. Regarding the temporal-spatial analyses of the frequency of 18 selected defects (Tables 5-10), the global decreases were also evident in many Autonomous Regions. Only an increase was detected for anencephaly in Aragón, where no clue on a local cause for the increase was observed, and where only one case was registered in 2011. Geographical heterogeneity could be detected in 2011 for several defects and was attributable to the birth of a higher than expected number of cases of anencephaly in Aragón, of cleft lip in Galicia, oesophageal atresia/stenosis in the Canary Islands, and hypospadias in Cantabria. All these clusters were analysed and again no local cause was identified and it was concluded that possibly they are stochastic events, although they will be maintained under close scrutiny until the next surveillance report. Since immigration in Spain has been very remarkable in the last years, the ethnic origin of cases and foreign extraction of their parents were analysed. A statistically significant increase along the time in the percentage of foreign parents was detected (Graph 4), and this was more marked among cases than among controls. Also an increase in all ethnic groups except the oriental one was observed (Graph 5). A higher risk for congenital anomalies was observed for all the groups except the Indian group, with respect to the native white group (Graph 6). Some final comments are included regarding the importance of congenital anomalies registries as infrastructure for the research on their causes and prevention, as well as on the exceptional characteristics of ECEMC’s registry and network (including its international activities for birth defects surveillance), and the need for more campaigns for their primary prevention and more research on their causes. In this sense, a reference is made on Kirby and Browne’s 26 consideration of birth defects surveillance as “an essential public health function for primary prevention and health promotion”.Publication Prescription of drugs during pregnancy: Which are the “teratogens” that should always be avoided?(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Martínez-Frías, María LuisaPublication The use of prescription drugs during pregnancy: What are the “teratogens” that should always be avoided?(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Martínez-Frías, María LuisaPublication Actividad de los Servicios de Información Telefónica sobre Teratógenos (SITTE y SITE) durante el año 2011(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Fernández-Martín, P; García-Benítez, Mª Regla; Real-Ferrero, M Monserrat; Martínez-Frías, María LuisaWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during year 2011. The total number of calls received in both services was 5,340 (829 from SITTE and 4,511 from SITE). We also analyzed calls asking for maternal diseases because some of them, like diabetes and hypertension, can be of risk for the correct prenatal development, either by themselves or by the treatment. Like all these previous years, drugs have been the main issue of concern in consulting (68.67% SITTE; 40.84% SITE), particulary about psychoanaleptics (12.71% SITTE; 12.55% SITE) and psycholeptics (12.37% SITTE; 12.90% SITE). Sometimes this concern is the reason for many chronic treatments to be withdrawn when knowing about the pregnancy, without taking into account the risk this may bring to the mother´s illness.Publication Resúmenes de los Pósteres presentados en la XXXV Reunión Anual del ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Instituto de Salud Carlos III