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

Surveillance of congenital anomalies in Spain during the last 24 years

Resultados de Vigilancia Epidemiológica de los defectos congénitos sobre los datos del ECEMCAs a part of the usual surveillance of congenital anomalies performed in the ECEMC (Spanish Collaborative Study of Congenital Anomalies) database, we have analysed the information gathered in the period 1980-2003, during which a total of 1,941,742 newborn infants were surveyed. The ECEMC registry covered 26.48% of total births occurred in Spain in 2002. We have studied the global prevalence of infants with congenital anomalies in 3 different periods: a) before the passing of the law permitting voluntary interruption of gestation -VIG- following prenatal detection of anomalies (1980-85); b) after such passing (1986-2002); and c) year 2003. The baseline frequency of congenital anomalies corresponds to the period 1980-1985. Comparisons with this baseline mainly indicate the impact of VIG on the birth prevalence for defects which are prenatally detectable. The global prevalence continues diminishing over the years, and the significant decrease can also be observed in 13 out of 17 Spanish Autonomic Regions. All these decreases are mostly attributable to the impact of VIG. When studying the time distribution of the frequency of some selected anomalies, as well as their geographical distribution, we have observed that VIG plays an important role. However, it is difficult to get information on VIGs. The problem is that if it is not registered on a routine basis and with complete data on exposures and other variables, it will be impossible to perform analytic studies on the causes of birth defects . A question that has recently raised is the increasing number of immigrants in Spain. We have analysed the distribution of the control group of the ECEMC by country from which the parents come from. On the other hand, we have also analysed the evolution along the time of the proportion of different ethnic groups in the control group. Finally, in spite of the decreasing frequency of congenital anomalies, it should be considered that such decrease is mainly due to the impact of VIG, so we underline the need of investigating in order to reach primary prevention of birth defects, and applying the known preventive measures, getting infants being born healthy.N

Surveillance of congenital anomalies in Spain in the last 23 years (period 1980-2002)

Resultados de Vigilancia Epidemiológica de los defectos congénitos sobre los datos del ECEMCWe have analysed data from the ECEMC database, gathered in the period 1980-2002, during which a total of 1,838,654 newborn infants were surveyed. The ECEMC programme covered 25.6% of total births occurred in Spain in 2001. We have calculated the global frequency of infants with congenital anomalies in different periods of time (before or after the passing of the law permitting voluntary interruption of gestation -VIG- following prenatal detection of anomalies). This allows to figure out the baseline frequency of congenital anomalies (corresponding to the period 1980-1985), and to assess the impact of VIG on the birth prevalence by comparing the baseline frequency of congenital anomalies with the frequency registered after 1985. The global frequency is decreasing over the years, and in 11 out of 17 Spanish Autonomic Regions we have also observed significant decreases of the frequency along the time. All those decreases are attributable to VIG. We have also studied the time distribution of the frequency of some selected anomalies, as well as their geographical distribution, and both are highly influenced by VIG. Nevertheless, the information on VIG is rather scarce. We consider that if it is not registered on a routine basis, it will be impossible to perform analytic studies on the causes of birth defects and to evaluate any preventive measure. Another question that will have to be approached in years to come is the distribution of birth defects depending on the country the parents come from, as immigration from other countries is increasing in Spain. Finally, we consider that even though the birth prevalence of these pathologies is decreasing as a consequence of the prenatal diagnosis and the possibility of voluntarily interrupting the gestation, it is necessary to search for primary prevention measures in order to get infants being born healthy.N

Integration of the clinical aspects into the epidemiological analysis of the newborn infants with congenital defects registered through the ECEMC: 30 years getting ready for the future

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCAn epidemiological 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 2005, has been performed. It is remarkable that the ECEMC programme is defined, as stated in its Operating Manual, as a clinical and epidemiological research program on congenital defects, based on an ongoing case-control, hospital-based registry of newborn infants in Spain. The analyzed material corresponds to 2,152,479 total newborns surveyed, of which 34,066 (1.58%) had congenital defects detected during the first 3 days of life. All these infants with congenital anomalies were analyzed by applying the classification system developed in the ECEMC [Martínez-Frías et al., 1991: Am J Med Genet 41:192-195; Martínez-Frías and Urioste, 1994: Am J Med Genet 49:36-44; Martínez-Frías et al., 2000: Am J Med Genet 90:246-249], based on the most modern concepts in Dysmorphology [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. Infants registered were distributed according to their clinical presentation as isolated, multiply malformed, and syndromes, and other subgroups into these 3 groups. The time distribution of the 3 main groups of clinical presentation was studied and all of them have decreased along the years, probably as a consequence of the impact of interruption of pregnancy of some affected fetuses. Apart from the study for all infants with congenital defects, the clinical presentation of a group of 17 defects (selected according to: their relatively high frequency at birth, or the high morbidity/mortality that they bear, and their monitoring in other countries) was also analysed. There was a considerable clinical heterogeneity in most of them, although some (gastroschisis, hypospadias, or anencephaly) tend to present as isolated anomalies, and other (anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis) appear more frequently associated to other defects. The etiologic distribution of infants with congenital anomalies in the ECEMC resulted similar to that shown by other authors, and the lists of syndromes, classified by their etiology, is also provided, detailing their gene map locations if known (OMIM database accessed in June 2006), and their minimum birth prevalence in Spain (according the ECEMC database). To conclude, a commentary is made on the possibility of including not only clinical and genetic information, but also molecular data in the registries coding systems, in order to integrate all the available biological knowledge in the epidemiological approach to identify the causes of congenital defects, to be prevented.N

Clinical and genetic aspects of the hamartoneoplastic syndromes that can be diagnosed during the three first days of life.

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCThe hamartoneoplastic syndromes are an heterogeneous group of diseases characterized by their risk to develop malignant tumors among other clinical features that vary from one syndrome to another. Most of these pathologies also share endocrinological abnormalities and sometimes, genetic characteristics, including the autosomal dominant mode of inheritance. Therefore, pediatricians must be aware of their main characteristics in order to prevent as soon as possible further complications and to provide the appropiate genetic counseling to the affected patients and their families. In this chapter, we have classified these pathologies in seven different groups according to the more frequently affected tissue by the development of hamartomas. For each of these groups we reviewed the hamartoneoplastic syndromes that have some manifestations at birth. Finally, some practical guidelines are provided for their clinical, genetic diagnosis, and management.N

Epidemiological surveillance of congenital anomalies in Spain: Analysis of the data from the ECEMC’s Registry in the period 1980-2008

Aspectos EpidemiológicosThe Spanish Collaborative Study of Congenital Malformations (ECEMC) is a programme for research on congenital anomalies. It was created in 1976 by Prof. Martínez-Frías, as a hospital-based, case-control registry of newborn infants in Spain. Since its foundation, it has surveyed a total population of more than 2.6 million births, and studied more than 39,900 consecutive infants with congenital anomalies. According to the most recent data, the coverage of the registry reaches 21.55% of total births in Spain. The global frequency of infants with congenital defects has significantly decreased along the time, from 2.22% in the base period (1980-1985), to 1.03% in 2008. This significant decrease is mainly attributable to the impact of prenatal diagnosis and further interruption of some affected pregnancies, which is legal in Spain since 1985. Such a decrease has been observed in most of the Spanish Autonomic Regions (see Fig. 1) and participating hospitals, being statistically significant in many of them. The only Autonomic Region in which an increase was detected is Extremadura, where the base frequency was quite low due to a small coverage of births, in a period during which the most complicated pregnancies, and infants with serious birth defects, had to be referred to other regions (a situation that has changed since the basal period). From the periodic analysis of the frequency of a group of 33 defects selected due to their relatively high base frequency or morbidity/ mortality that they bear, only the heart/great vessels defects, and unilateral renal agenesis, have increased along the time, possibly as a result of increasing facilities for their diagnosis. The temporal-spatial analyses mostly detected decreases in the frequency of many of the defects studied in several Spanish Autonomic Regions. However, there were also some increases. Specifically, in the frequency of anophthalmia/microphthalmia in the Región de Murcia, cleft palate in Aragón, oesophageal atresia/stenosis in Galicia, and anal-rectal atresia/stenosis in Canarias. Regarding anophthalmia/ microphthalmia in the Región de Murcia, after excluding one case with a chromosomal abnormality and another one with familial Waardenburg syndrome, the increase lost its statistical significance, and apparently there was not any common denominator among the other cases registered, apart from the area of birth. With respect to the increase of oesophageal atresia/stenosis in Galicia, this was due to the birth of 4 cases in 2008, without any known common characteristic from which a causal relationship could be inferred. This defect will be subject to a special surveillance during the next months. Concerning the increase of cleft palate in Aragón, there was not any sign of a common cause restricted to this geographical area either. The last increase was based on the birth of 3 clinically different cases with anal atresia in Canarias, and no causal agent could be specifically linked to this area. From this report, it is clear the crucial role of the ECEMC system in the epidemiological surveillance of congenital anomalies in Spain, given its long experience since 1976, its huge database, the network of hospitals established, and the close and dynamic collaboration between its participants. This has enabled not only to calculate the birth frequency of congenital defects in Spain on a consecutive series on non-selected newborn infants, in a live and active system, but also to study their evolution along the time, and their geographical distribution, as well as their clinical diagnosis.N

Annual Report of epidemiological surveillance of congenital anomalies in Spain: Data of the period 1980-2010

Aspectos EpidemiológicosThe Spanish Collaborative Study of Congenital Malformations (ECEMC) annually undertakes the preparation and updating of the report of epidemiological surveillance of congenital anomalies in Spain. ECEMC is a research programme for congenital anomalies, based on an ongoing registry of births in Spain, which is hospital-based and has a case-control design. It has surveyed about 2.8 million births (Table 1), and gathered data on 41,800 consecutive infants with congenital anomalies and a similar number of healthy controls. Present coverage of the registry is 19.8% of total births in Spain (Table 2). The basal frequency of infants with congenital defects in our country is 2.22% (registered in 1980-1985), and it fell up to 1.07% in 2010, mainly as a result of the impact of elective termination of pregnancy after the detection of foetal anomalies (ETOPFA). ETOPFA has been legal in Spain since the end of the year 1985. Such a statistically significant decrease of the global frequency can be observed (Table 3) in many of the participating hospitals and most Spanish Autonomic Regions (see Fig. 1). Some increases in six hospitals were studied in detail. The only Autonomic Region in which an increase was detected is Extremadura, but this finding is probably due to methodological reasons in the first years, and referrals of high-risk pregnancies to other regions in those years, with considerable further changes that allow a better detection and reporting of cases in this region. The corrected global frequency by hospital and Autonomic Region, taking ETOPFA into account, was also analysed. The evolution of the frequency of a selected group of 33 defects with a relatively high base frequency and/or bearing a high morbidity/mortality was studied (Table 4). Most of them diminished along the time, the only increases being observed for heart/great vessels defects and unilateral renal agenesis, possibly as a result of better diagnostic procedures. Down syndrome is the defect for which a more marked decrease was measured (Graphs-1)A group of 18 defects were selected for the temporal-spatial analyses of the frequency, and also many statistically significant decreases were observed in most Spanish Autonomic Regions (Tables 5-10). The only increase was detected for anencephaly in the Balearic Islands, based on two births, and no clue on a local cause was obtained. Geographical heterogeneity could be detected in 2010 for anencephaly, spina bifida, anal/rectal atresia/stenosis, and hypospadias. For anencephaly, heterogeneity was attributable to the previously mentioned relatively high frequency registered in the Balearic Islands. For spina bifida, it was due to a high frequency observed in La Rioja, but based on the birth of just one case. For anal/rectal atresia/stenosis it was due to the high frequency registered in the quite distant regions of the Balearic Islands and La Rioja, and no common factor was identified as a possible cause. In all these cases it is noticeable that in regions where a small number of births is surveyed, the birth of just one case can bring the frequency to unusually high levels, and this can generate some geographical heterogeneity. For hypospadias, it was due to the low frequency observed in 2010 in the Comunidad Valenciana, and the relatively high frequency registered in Andalucia; all cases were balanic and isolated, and the higher frequency was observed in three hospitals in the provinces of Córdoba, Jaén and Malaga. All these findings will be subject to close scrutiny until the next surveillance report. Due to the importance of immigration in Spain in the last years, the ethnic origin of cases and foreign extraction of their parents were also analysed. The percentage of foreign parents has significantly increased with time, and was higher among the cases than among the controls (Graph 4). All ethnic groups had a higher risk for congenital anomalies than the native white group (Graph 6) and, except the oriental group, have increased with time (Graph 5). A reflection is included as a final comment, regarding the need of research on causes of birth defects, as expressed by Olshan et al. [Am J Med Genet A. 2011;155:1794–1797]: ‘For future generations, it is essential that we identify causes so that effective public health and clinical prevention programs can be established’. ECEMC, and other programmes worldwide, collaborate with that aim. For that purpose, ECEMC has a considerable background and experience of more than 35 years, as well as enough flexibility to adapt itself to new challenges, working for the prevention of birth defects.N

Clinical-epidemiological analysis of the newborn infants with congenital defects registered by ECEMC: Distribution by etiology and ethnic groups.

Dismorfología y Genética ClínicaIt 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).N

Report of congenital anomalies surveillance in Spain, on the data registered by ECEMC during the period 1980-2011

Aspectos EpidemiológicosCongenital 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”.N

Clinical-epidemiological analysis of the newborn infants with congenital defects registered by ECEMC: Distribution by etiology and ethnic groups

Dismorfología y Genética ClínicaThis 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.N