The effects of certain verbal stimuli upon the autonomic equilibrium of hearing handicapped, emotionally handicapped, and non-handicapped adolescents

Thesis (Ed.D.)--Boston Universit

Genetics and genomic medicine in Argentina

A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.Fil: Vishnopolska, Sebastián Alexis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales; ArgentinaFil: Turjanski, Adrian. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales; ArgentinaFil: Herrera Piñero, Mariana. Banco Nacional de Datos Genéticos; ArgentinaFil: Groisman, Boris. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; ArgentinaFil: Liascovich, Rosa. Red Nacional de Anomalías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Marti, Marcelo Adrian. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales; Argentin

Stable White Coatings

In a previous research program for the Jet Propulsion- Laboratory, extensive studies led to the development and specifications of three zinc oxide-pigmented thermal-control coatings. The principal objectives of this program are: improvement of the three paints (as engineering materials), determination of the validity of our accelerated space-simulation testing, and continuation of the zinc oxide photolysis studies begun in the preceding program. Specific tasks that are discussed include: improvement of potassium silicate coatings as engineering materials and elucidation of their storage and handling problems; improvement of methyl silicone coatings as engineering materials; studies of zinc oxide photolysis to establish reasons for the observed stability of zinc oxide; and determination of space-simulation parameters such as long-term stability (to 8000 ESH), effect of coating surface temperature on the rate of degradation, and validity of accelerated testing (by reciprocity and wavelength dependency studies)

Governing the compact city: The role and effectiveness of strata management

This research charts the key issues facing the governance and management of strata buildings and is the first major study of the strata sector undertaken in Australia.• An estimated three million people live in strata titled homes in Australia. The state of New South Wales (NSW) has the largest number of strata titled properties of all states and territories in the country and approximately 1.2 million people live in strata titled homes in the state. In the Sydney metropolitan area, almost a quarter of the population live in strata titled homes. This means that for the first time in Australia’s history large numbers of property owners find themselves in a legally binding relationship with their neighbours for the communal upkeep and maintenance of their property. The governance structures that mediate this community-based property ownership represent a new form of civic relationship. With the development of increasing numbers of strata schemes, owners corporations, through their executive committees and the managing agents and other property professionals who support the sector, have become increasingly important in ensuring the maintenance and upkeep of significant parts of our cities. In effect, owners corporations act as a fourth tier of government that is democratically elected, with lawmaking, taxation and enforcement powers. But despite the growing prevalence of strata title in our lives, relatively little is known about how well the strata system works in practice to meet the needs of those people who own and live in strata properties. The Governing the Compact City project1 provides the first comprehensive assessment of how the strata title system is operating in regard to governance and management from the point of view of those who own, live in, and manage strata homes. While it is focused on NSW, the report’s findings have implications for the entire Australian strata market which is based on essentially the same governance and management arrangements. The research project The project had three major aims: 1.    To explore the role, capacity and effectiveness of owners corporations as agencies of property governance and management in contemporary urban Australia. 2.    To explore the capacity and effectiveness of strata managing agents as mediators of outcomes for residents and owners in the sector, and their role and function within the overall structure of management and governance. 3.    To assess how well residential strata works from strata owners’ points of view. The research project focused on residential strata properties with three or more lots in NSW. The research was undertaken between 2009 and 2012 and included surveys and interviews with strata owners, executive committee members and strata managing agents in NSW, as well as analysis of the NSW strata database and NSW strata schemes management legislation and interviews with peak body representatives around Australia. In total, the research consulted 1,550 individuals including 1,020 strata owners, 413 executive committee members, 106 strata managing agents and 11 peak body representatives. Downloads: FINAL REPORT EXECUTIVE SUMMAR

Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers: A EUROmediCAT Study

Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. We linked data from primary care and prescription databases to five European Surveillance of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases, and agreement of exposure. Of the 52,619 cases registered in the CA databases, 26,552 could be linked. The linkage rate varied between registries over time and by type of birth. The first trimester exposure rates and the agreements between the databases varied for the different medicine groups. Information on anti-epileptic drugs and insulins and analogue medicine use recorded by CA registries was of good quality. For selective serotonin reuptake inhibitors, anti-asthmatics, antibacterials for systemic use, and gonadotropins and other ovulation stimulants, the recorded information was less complete. Linkage of primary care or prescription databases to CA registries improved the quality of information on maternal use of medicines in pregnancy, especially for medicine groups that are less fully registered in CA registries

Under-reporting of major birth defects in Northwest Russia: a registry-based study

Source at https://doi.org/10.1080/22423982.2017.1366785 .The objective was to assess the prevalence of selected major birth defects, based on data from two medical registries in Murmansk County, and compare the observed rates with those available for Norway and Arkhangelsk County, Northwest Russia. It included all newborns (≥22 completed weeks of gestation) registered in the Murmansk County Birth Registry (MCBR) and born between 1 January 2006 and 31 December 2009 (n=35,417). The infants were followed-up post-partum for 2 years through direct linkage to the Murmansk Regional Congenital Defects Registry (MRCDR). Birth defects identified and confirmed in both registries constituted the “cases” and corresponded to one or more of the 21 birth defect types reportable to health authorities in Moscow. The overall prevalence of major birth defects recorded in the MRCDR was 50/10,000 before linkage and 77/10,000 after linkage with the MCBR. Routine under-reporting to the MRCDR of 40% cases was evident. This study demonstrates that birth registry data improved case ascertainment and official prevalence assessments and reduced the potential of under-reporting by physicians. The direct linkage of the two registries revealed that hypospadias cases were the most prevalent among the major birth defects in Murmansk County. Abbreviations: ICD-10, International Classification of Diseases, 10th revision; MCBR, Murmansk County Birth Registry; MRCDR, Murmansk Regional Congenital Defects Registry; MGC, Murmansk Genetics Cente

A survey of the follow-up studies carried out by recognized educational clinics in the United States.

Thesis (Ed.M.)--Boston Universit

Security assessment of open source third-parties applications

Free and Open Source Software (FOSS) components are ubiquitous in both proprietary and open source applications. In this dissertation we discuss challenges that large software vendors face when they must integrate and maintain FOSS components into their software supply chain. Each time a vulnerability is disclosed in a FOSS component, a software vendor must decide whether to update the component, patch the application itself, or just do nothing as the vulnerability is not applicable to the deployed version that may be old enough to be not vulnerable. This is particularly challenging for enterprise software vendors that consume thousands of FOSS components, and offer more than a decade of support and security fixes for applications that include these components. First, we design a framework for performing security vulnerability experimentations. In particular, for testing known exploits for publicly disclosed vulnerabilities against different versions and software configurations. Second, we provide an automatic screening test for quickly identifying the versions of FOSS components likely affected by newly disclosed vulnerabilities: a novel method that scans across the entire repository of a FOSS component in a matter of minutes. We show that our screening test scales to large open source projects. Finally, for facilitating the global security maintenance of a large portfolio of FOSS components, we discuss various characteristics of FOSS components and their potential impact on the security maintenance effort, and empirically identify the key drivers

Genetic contribution to the aggregation of schizophrenia and bipolar disorder in multiplex consanguineous Pakistani pedigrees

La schizophrénie (SCZ) et le trouble bipolaire (TB) sont des troubles mentaux graves qui présentent tous deux des symptômes affectifs et psychotiques. La SCZ est un trouble psychotique primaire caractérisé par des symptômes d’idées délirantes et d’hallucinations. Le TB est principalement un trouble de l'humeur primaire défini des périodes de manie et de dépression. En 2010, ces troubles contribuaient respectivement à 7,4% et 7,0% de la charge mondiale de morbidité. La prévalence élevée (~ 0,4% pour la SCZ et ~ 2,4% pour le TB) et la forte héritabilité estimée (~ 80%) suggèrent toutes deux une forte influence génétique. Les données disponibles démontrent qu'il existe des chevauchements génétiques entre les deux conditions, mais également des composantes génétiques spécifiques à chaque maladie. Au cours de la dernière décennie, des études d’association pan-génomiques ont identifié des centaines de loci génétiques associés à ces maladies. De plus, d’autres méthodes ont permis de mettre en relief la contribution d’autres types de variations génétiques comme les rares variations du nombre de copies (CNV), de rares polymorphismes de nucléotide simple (SNV) et des mutations de novo (MDN). Bien que notre connaissance de l'architecture génétique de ces conditions est en progression, une grande partie de l'héritabilité demeure toujours non résolue et inexpliquée. Une longue histoire de faible mélange génétique combiné à la pratique répandue de mariages consanguins (50% des unions sont consanguines) rend les familles pakistanaises prometteuses pour des études génétiques médicales basées sur la population. Des études épidémiologiques ont démontré que la consanguinité est associée à un risque accru de nombreux traits. L’étude de familles a largement été appliquée dans la cartographie génétique des caractères mendéliens et complexes. Cependant, peu d’études ont eu recours à de grandes familles consanguines multiplexes pour étudier en profondeur le rôle de la consanguinité dans les troubles neuropsychiatriques tels que la SCZ et le TB. Les CNVs ont été impliquées dans la SCZ et le TB depuis la découverte des délétions 22q11.2. Malgré que ces derniers soient rares dans la population, ils contribuent de manière significative au risque. Des études d'association de CNV ont révélé un enrichissement de délétions et de duplications rares et un taux plus élevé de CNV de novo dans les cas relatifs aux témoins. De plus, le séquençage du génome de familles SCZ a révélé une charge accrue de rares CNVs exonics chez les sujets SCZ ainsi que de l'hétérogénéité génétique. L'utilisation de grandes familles de multiplexes pourrait être statistiquement puissante pour étudier le rôle des CNVs co-ségrégant avec la maladie et éventuellement pathogènes. Afin de mieux comprendre l'hétérogénéité génétique et résoudre l’héritabilité manquante de ces deux troubles mentaux, nous avons utilisé du génotypage et du séquençage de l'exome afin d’examiner le profil génétique de grandes généalogies consanguines multiplexes d’origine Parkistanaise. Chacune de ces familles comportait plus de dix membres affectés par la SCZ ou le TB. Dans cette thèse, nous caractérisons la population d’origine, ce qui comprend le mélange génétique et la consanguinité récente de notre cohorte. Nous avons testé si le niveau de consanguinité était associé au phénotype binaire et à ses dimensions sous-phénotypiques. Nous avons également inclus un grand ensemble de données de populations contrôles externes et appariées afin de calculer et comparer le coefficient de consanguinité. Notre approche, qui comprenait une analyse de liaison, une cartographie de l’auto-zygosité, la détection de cycles homozygotie et une analyse de ségrégation de variantes homozygotes délétères rares, nous a conduit à rejeter l’hypothèse d’un modèle de transmission récessif sur ces familles (malgré leur forte consanguinité). Par la suite, nous avons examiné si des CNVs co-ségrégaient avec le phénotype dans certaines familles. Cette étude comportait plusieurs étapes: 1 - une comparaison systématique entre différents algorithmes de détection de CNVs. 2 - une validation croisée de vrais CNVs ou de faux positifs par des approches in silico ou expérimentales, 3 - le développement d’un logiciel de ségrégation et d'annotation. Cette étude met de l’avant à la fois les avancées méthodologiques et les limites de l’exploration des CNVs. Au final, aucun des CNVs identifiés ne semblent contribuer à la variance génétique de la SCZ et du TB des familles examinées dans cette étude. Les résultats présentés dans cette thèse étayent une hypothèse alternative qui impliquerait des interactions polygéniques entre à la fois des variants rares et des variants communs.Schizophrenia (SCZ) and bipolar disorder (BP) are two major psychiatric disorders. SCZ is a primary psychotic disorder that typically involves symptoms of delusions and hallucinations, by comparison BP is a mood disorder engaging mania and depression but it can also involve psychosis. A 2010 estimation of these disorders highlighted that they respectively contributed to ~7.4% and ~7.0% of the global burden of disease. The high prevalence (~0.4% for SCZ and ~2.4% for BP) and estimated heritability (~80%) suggest a strong genetic influence. Evidence shows that there are some genetic overlaps between the two conditions but also disorder-independent genetic components. Over the past decade, genome-wide association studies (GWAS) identified hundreds of SCZ and BP loci, and other approaches identified various forms of potential genetic risk factors, for instance rare copy number variants (CNVs), rare single nucleotide variants (SNVs) and de novo mutations (DNMs). While our knowledge of the genetic architecture of these conditions grow, a large of portion of the genetic heritability of each disorder still remains unexplained. The combination of a long history of genetic admixture, and the tradition of consanguineous marriages (50% of unions are consanguineous), makes Pakistani families promising for population based medical genetics studies. Consanguinity has previously been associated with an increased risk of numerous traits in epidemiological studies. Family-based designs have been widely applied in the genetic mapping of Mendelian and complex traits. However, few studies have used large multiplex consanguineous families to thoroughly investigate the role of consanguinity in neuropsychiatric disorders such as SCZ and BP. CNVs have been implicated in SCZ and BP since the discovery of 22q11.2 deletions, however, most of them are rare in the population but contribute significantly to the risk. Association studies of CNVs found enrichment of rare deletions and duplications, and a higher rate of de novo CNVs in cases relative to controls. Whole-genome sequencing of multiplex SCZ families reported increased burden of rare, exonic CNV in SCZ probands and genetic heterogeneity. Using large multiplex families could be statistically powerful to investigate the role of segregating, and possibly pathogenic, CNVs. In order to better understand the genetic heterogeneity and look for missing heritability of these two common disorders in Pakistani families, we used SNP genotyping and whole-exome sequencing to examine the genetic profile of ten large multiplex consanguineous pedigrees; each of these families involved more than ten members affected by SCZ or BP. In this thesis, we characterized the population background which includes admixture and recent inbreeding of our cohort. We tested if the inbreeding level was associated with the binary phenotype and its subphenotype dimensions. We also included large external dataset of matched population control individuals to compute and compare the inbreeding coefficient. Our approach, which included linkage analysis, autozygosity mapping, runs of homozygosity (ROH) and rare deleterious homozygous variants segregation analysis, led us to reject the hypothesis of a recessive inheritance model across these families (despite of their high inbreeding). We subsequently looked if any CNV segregated across some of the families. This examination involved multiple steps: 1 - a systematic comparison of a range of CNV detection algorithms currently available through different platforms, 2 - a cross validation of true and false positive CNV calls through the use of in silico or experimental approaches, 3 - the development of our own segregation and annotation software. This effort both emphasized the methodological advances and limitations of CNV studies. In the end, none of the potentially pathogenic CNV identified appeared to account for the genetic variance of SCZ and BP observed in the families examined here. The results presented in this thesis provide support for an alternate hypothesis that would involve a polygenic pattern where both rare variants and common variants would be at play

Due Process Versus Data Processing: An Analysis of Computerized Criminal History Information Systems

This article, based on a comprehensive empirical study of New York\u27s computerized criminal history information system and on national surveys of similar systems, concludes that current regulations governing the dispersion of criminal history information are grossly inadequate. Although information drawn from computerized criminal history files is often inaccurate, incomplete, ambiguous or inappropriate, criminal justice officials and judges routinely use such information in making decisions affecting defendants\u27 liberty. This practice is unconstitutional, and the article suggests ways to regulate criminal history information systems that would protect a defendant\u27s right not to be deprived of liberty without due process of law