Deleción 14q proximal, presentación de dos casos y revisión de la literatura

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCHere 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.N

Johnson-McMillin syndrome (JMS): description of the first patient in Spain.

Dismorfología y Genética ClínicaThe 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 SpainN

Monososomy 1p36: A clinically recognizable syndrome

Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMCPure 1p36 deletion is considered a new delineated syndrome that probably is a contiguous gene syndrome, presenting a pattern of clinical manifestation that may be recognizable. This includes moderate to severe psychomotor retardation, hypotonia, microcephaly, postnatal growth retardation, seizures and craniofacial dysmorphism (deep set eyes, low nasal bridge, large anterior fontanelle, midface hypoplasia) which should lead to perform a chromosomal study particularly focussed on this type of deletion. Terminal region 1p is difficult to visualize and its alterations will only be detected in a High Resolution G-band karyotype, followed by Fluorescence in situ Hybridization techniques (FISH). Here we present a case which was diagnosed as having a 1p36.22 deletion with High Resolution G-band karyotype confirmed by telomeric FISH.N

Security Guidelines for the Development of Accessible Web Applications through the implementation of intelligent systems

Due to the significant increase in threats, attacks and vulnerabilities that affect the Web in recent years has resulted the development and implementation of tools and methods to ensure security measures in the privacy, confidentiality and data integrity of users and businesses. Under certain circumstances, despite the implementation of these tools do not always get the flow of information which is passed in a secure manner. Many of these security tools and methods cannot be accessed by people who have disabilities or assistive technologies which enable people to access the Web efficiently. Among these security tools that are not accessible are the virtual keyboard, the CAPTCHA and other technologies that help to some extent to ensure safety on the Internet and are used in certain measures to combat malicious code and attacks that have been increased in recent times on the Web. Through the implementation of intelligent systems can detect, recover and receive information on the characteristics and properties of the different tools and hardware devices or software with which the user is accessing a web application and through analysis and interpretation of these intelligent systems can infer and automatically adjust the characteristics necessary to have these tools to be accessible by anyone regardless of disability or navigation context. This paper defines a set of guidelines and specific features that should have the security tools and methods to ensure the Web accessibility through the implementation of intelligent systems

Vitamin A and pregnancy: review of the literature and risk assessment

TeratologíaVitamin A plays a key role in many essential biological processes, such as the embryonic development, regulation of proliferation and diferentiation of many cell types. The present article reviews the biochemistry, metabolism and mode of action of retinoides (including vitamin A), as well as their role in the embryo development and their teratogenic effect on animal and human beings.N

Description of a new case of Bohring-Opitz (or Oberklaid-Danks) syndrome

Dismorfología y Genética ClínicaIn 1999, Bohring et al. reported a new syndrome clinically distinguishable from cases with C syndrome or Opitz trigonocephaly. All the patients showed failure to thrive, microcephaly with metopic suture ridging, nevus flammeus over the forehead, thick hair and forehead hirsutism, shallow orbits with prominent eyes, depressed nasal root, anomalous ears, retrognathia, cleft lip and palate, flexion deformities of the upper limbs with radial head dislocation and ulnar deviation of fingers. Patients have severe developmental delay, sucking and swallowing difficulties starting in the prenatal period, as suggested by the usual polyhydramnios. The brain anomalies include hydrocephaly/large ventricles, agenesis/hypoplasia of corpus callosum, Dandy- Walker malformation, myelin abnormalities, and cortical atrophy. Occasional symptoms are a small or closed fontanel at birth, inguinal hernias and cryptorchidism in males, and intestinal malrotation. Most patients die early in childhood because of bradycardia and apnea. Although there is an overlap between C-like syndrome and C syndrome, different manifestations in these patients suggest a different entity. This new syndrome has been called (apart from C-like syndrome) Bohring-Optiz or Oberklaid-Danks syndrome. Recently, it has been associated in some patients to heterozygous de novo nonsense mutations in ASXL1 gene, which is required for maintenance of both activation and silencing of Hox genes, suggesting that the syndrome is genetically heterogeneous. Here we describe the first case of this syndrome identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC) Registry, and possibly in Spain. Therefore, its minimal frequency has been estimated in 1:2,648,286 newborn infants.N

The activity of the Spanish Teratology Information Services (SITTE and SITE) during year 2011

Otros Resultados: Actividad TraslacionalWe 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.N

Resultados de la actividad de los Servicios SITTE y SITE durante el año 2005 y análisis de las llamadas por etnia materna

Resultados de otras actividades del ECEMCWe 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 groupN

Antipsychotics and pregnancy: a review of the literature and experience in the ECEMC

Teratología ClínicaThe 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.N

Analysis of the use of drugs and other demographic data in the immigrant population (period 2000-2004)

TeratologíaObjective: To detect significant variations in variables related to the care of gestation between the immigrant and autochthonous pregnant women in Spain. Material and Methods: Data come from the Spanish Collaborative Study of Congenital Malformations (ECEMC), an ongoing hospitalbased case-control study and surveillance system. Collaborating physicians, identify the cases and control infants, and collect the same information in both groups of children (about 312 data) on reproductive and family history, and prenatal exposures. We have analysed the mothers of the control infants of the ECEMC during the period 2000 to 2004. Results: Of the total of 5,443 control's mothers, 715 were immigrants (13.14%). These immigrant women compared to the Spanish ones, are younger, plan less their pregnancies and realize fewer visits to the gynaecologist during gestation. Regarding to the use of 36 groups of drugs during pregnancy, immigrants consume less vitamins and antianemic preparations (including iron and folic acid) and drugs for thyroid therapy (both thyroid and antithyroid preparations), and more drugs for gynaecological infections and for cardiac therapy. Conclusions: The results strongly suggest that immigrant women have less medical health control during their pregnancies than autochthonous population. Thus, it is necessary to promote campaigns to inform preventive measures to this population.N