A genomewide screen for autism susceptibility loci

We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

Exclusion of angiotensinogen gene in molecular basis of human hypertension: Sibpair linkage and association analyses in Australian anglo-caucasians

Linkage with essential hypertension has been claimed for a microsatellite marker near the angiotensinogen gene (AGT; chromosome 1q42), as has association for the AGT variants M235T, G(-6)A and A(-20)C. To more rigorously evaluate AGT as a candidate gene for hypertension we performed sibpair analysis with multiple microsatellite markers surrounding this locus and using more sophisticated analysis programs. We also performed an association study of the AGT variants in unrelated subjects with a strong family history (two affected parents). For the linkage study, single and multiplex polymerase chain reaction (PCRs) and automated genescan analysis were conducted on DNA from 175 Australian Anglo-Celtic Caucasian hypertensives for the following markers: D1S2880-(2.1 cM)-D1S213-(2.8 cM)-D1S251-(6.5 cM)-AGT-(2.0 cM) -D1S235. Statistical evaluation of genotype data by nonparametric methods resulted in the following scores: Single-point analysis - SPLINK, P > 0.18; APM method, P > 0.25; ASPEX, MLOD < 0.28; SIB-PAIR, P > 0. 24; Multipoint analysis - MAPMAKER/SIBS, MLOD < 0.24; GENEHUNTER, P > 0.35. Exclusion scores of Lod -4.1 to -5.1 were obtained for these markers using MAPMAKER/SIBS for a lambda(s) of 1.6. The association study of G(-6)A, A(-20)C and M235T variants in 111 hypertensives with strong family history and 190 normotensives with no family history showed significant linkage disequilibrium between particular haplotypes, but we could find no association with hypertension. The present study therefore excludes AGT in the etiology of hypertension, at least in the population of Australian Anglo-Celtic Caucasians studied.

Schoolman family papers, undated, 1889-1994

The Schoolman Papers reflect Dr. Albert P. and Mrs. Bertha Schoolmans' staunch dedication to Jewish education, Jewish causes, and Israel. Bertha Schoolman, a lifelong member of Hadassah, assisted thousands of Israeli youth as chairman of the Youth Aliyah Committee. Her diaries, photos, scrapbooks, and correspondence record her numerous visits to Israel on which she helped set up schools, met with Israeli dignitaries, and participated in Zionist Conferences and events. The collection includes a 1936 letter from Hadassah founder, Henrietta Szold, praising Mrs. Schoolman's work as well as a letter from the father of Anne Frank, thanking Mrs. Schoolman for naming a Youth Aliyah center the "Anne Frank Haven" after his later daughter.

EU Multi-level Governance in the Making - The Community Initiative LEADER+ in Finland and Germany

In order to fully understand the process of European integration it is of paramount importance to consider developments at the sub-national and local level. EU integration scholars shifted their attention to the local level only at the beginning of the 1990s with the concept of multi-level governance (MLG). While MLG is the first concept to scrutinise the position of local levels of public administration and other actors within the EU polity, I perceive it as too optimistic in the degree of influence it ascribes to local levels. Thus, learning from and combining MLG with other concepts, such as structural constructivism, helps to reveal some of the hidden aspects of EU integration and paint a more realistic picture of multi-level interaction. This thesis also answers the call for more case studies in order to conceptualise MLG further. After a critical study of theories and concepts of European integration, above all, MLG, I will analyse sub-national and local government in Finland and Germany. I show how the sub-national level and local governments are embedded in the EU s multi-level structure of governance and how, through EU integration, those levels have been empowered but also how their scope of action has partially decreased. After theoretical and institutional contextualisation, I present the results of my empirical study of the EU s Community Initiative LEADER+. LEADER stands for Liaison Entre Actions de Développement de l'Économie Rurale , and aims at improving the economic conditions in Europe s rural areas. I was interested in how different actors construct and shape EU financed rural development, especially in how local actors organised in so-called local action groups (LAGs) cooperate with other administrative units within the LEADER+ administrative chain. I also examined intra-institutional relations within those groups, in order to find out who are the most influential and powerful actors within them. Empirical data on the Finnish and German LAGs was first gathered through a survey, which was then supplemented and completed by interviewing LAG members, LAG-managers, several civil servants from Finnish and German decision-making and managing authorities and a civil servant from the EU Commission. My main argument is that in both Germany and Finland, the Community Initiative LEADER+ offered a space for multi-level interaction and local-level involvement, a space that on the one hand consists of highly motivated people actively contributing to the improvement of the quality of life and economy in Europe s countryside but which is dependent and also restricted by national administrative practices, implementation approaches and cultures on the other. In Finland, the principle of tri-partition (kolmikantaperiaatte) in organising the executive committees of LAGs is very noticeable. In comparison to Germany, for instance, the representation of public administration in those committees is much more limited due to this principle. Furthermore, the mobilisation of local residents and the bringing together of actors from the local area with different social and institutional backgrounds to become an active part of LEADER+ was more successful in Finland than in Germany. Tri-partition as applied in Finland should serve as a model for similar policies in other EU member states. EU integration changed the formal and informal inter-institutional relations linking the different levels of government. The third sector including non-governmental institutions and interest groups gained access to policy-making processes and increasingly interact with government institutions at all levels of public administration. These developments do not necessarily result in the empowering of the local level.

Timing of puberty : Genetic regulation

In the general population, the timing of puberty is normally distributed. This variation is determined by genetic and environmental factors, but the exact mechanisms underlying these influences remain elusive. The purpose of this study was to gain insight into genetic regulation of pubertal timing. Contributions of genetic versus environmental factors to the normal variation of pubertal timing were explored in twins. Familial occurrence and inheritance patterns of constitutional delay of growth and puberty, CDGP (a variant of normal pubertal timing), were studied in pedigrees of patients with this condition. To ultimately detect genes involved in the regulation of pubertal timing, genetic loci conferring susceptibility to CDGP were mapped by linkage analysis in the same family cohort. To subdivide the overall phenotypic variance of pubertal timing into genetic and environmental components, genetic modeling based on monozygous twins sharing 100% and dizygous twins sharing 50% of their genes was used in 2309 girls and 1828 boys from the FinnTwin 12-17 study. The timing of puberty was estimated from height growth, i.e. change in the relative height between the age when pubertal growth velocity peaks in the general population and adulthood. This reflects the percentage of adult height achieved at the average peak height velocity age, and thus, pubertal timing. Boys and girls diagnosed with CDGP were gathered through medical records from six pediatric clinics in Finland. First-degree relatives of the probands were invited to participate by letter; altogether, 286 families were recruited. When possible, families were extended to include also second-, third-, or fourth-degree relatives. The timing of puberty in all family members was primarily assessed from longitudinal growth data. Delayed puberty was defined by onset of pubertal growth spurt or peak height velocity taking place 1.5 (relaxed criterion) or 2 SD (strict criterion) beyond the mean. If growth data were unavailable, pubertal timing was based on interviews. In this case, CDGP criteria were set as having undergone pubertal development more than 2 (strict criterion) or 1.5 years (relaxed criterion) later than their peers, or menarche after 15 (strict criterion) or 14 years (relaxed criterion). Familial occurrence of strict CDGP was explored in families of 124 patients (95 males and 29 females) from two clinics in Southern Finland. In linkage analysis, we used relaxed CDGP criteria; 52 families with solely growth data-based CDGP diagnoses were selected from all clinics. Based on twin data, genetic factors explain 86% and 82% of the variance of pubertal timing in girls and boys, respectively. In families, 80% of male and 76% of female probands had affected first-degree relatives, in whom CDGP was 15 times more common than the expected (2.5%). In 74% (17 of 23) of the extended families with only one affected parent, familial patterns were consistent with autosomal dominant inheritance. By using 383 multiallelic markers and subsequently fine-mapping with 25 additional markers, significant linkage for CDGP was detected to the pericentromeric region of chromosome 2, to 2p13-2q13 (multipoint HLOD 4.44, α 0.41). The findings of the large twin study imply that the vast majority of the normal variation of pubertal timing is attributed to genetic effects. Moreover, the high frequency of dominant inheritance patterns and the large number of affected relatives of CDGP patients suggest that genetic factors also markedly contribute to constitutional delay of puberty. Detection of the locus 2p13-2q13 in the pericentromeric region of chromosome 2 associating with CDGP is one step towards unraveling the genes that determine pubertal timing.

Ordered Ports – a Language Concept for High-level Distributed Programming

A new language concept for high-level distributed programming is proposed. Programs are organised as a collection of concurrently executing processes. Some of these processes, referred to as liaison processes, have a monitor-like structure and contain ports which may be invoked by other processes for the purposes of synchronisation and communication. Synchronisation is achieved by conditional activation of ports and also through port control constructs which may directly specify the execution ordering of ports. These constructs implement a path-expression-like mechanism for synchronisation and are also equipped with options to provide conditional, non-deterministic and priority ordering of ports. The usefulness and expressive power of the proposed concepts are illustrated through solutions of several representative programming problems. Some implementation issues are also considered.

Multi-point sensing system for plantar pressure measurement

In this paper, the development of a novel multipoint pressure sensor system suitable for the measurement of human foot pressure distribution has been presented. It essentially consists of a matrix of cantilever sensing elements supported by beams. Foil type strain gauges have been employed for the conversion of foot pressure in to proportional electrical response. Information on the signal conditioning circuitry used is given. Also, the results obtained on the performance of the system are included.

A Scalable Architecture for VoIP Conferencing

Real-Time services are traditionally supported on circuit switched network. However, there is a need to port these services on packet switched network. Architecture for audio conferencing application over the Internet in the light of ITU-T H.323 recommendations is considered. In a conference, considering packets only from a set of selected clients can reduce speech quality degradation because mixing packets from all clients can lead to lack of speech clarity. A distributed algorithm and architecture for selecting clients for mixing is suggested here based on a new quantifier of the voice activity called “Loudness Number” (LN). The proposed system distributes the computation load and reduces the load on client terminals. The highlights of this architecture are scalability, bandwidth saving and speech quality enhancement. Client selection for playing out tries to mimic a physical conference where the most vocal participants attract more attention. The contributions of the paper are expected to aid H.323 recommendations implementations for Multipoint Processors (MP). A working prototype based on the proposed architecture is already functional.

Spectral Clustering with Jensen-type kernels and their multi-point extensions

Motivated by multi-distribution divergences, which originate in information theory, we propose a notion of `multipoint' kernels, and study their applications. We study a class of kernels based on Jensen type divergences and show that these can be extended to measure similarity among multiple points. We study tensor flattening methods and develop a multi-point (kernel) spectral clustering (MSC) method. We further emphasize on a special case of the proposed kernels, which is a multi-point extension of the linear (dot-product) kernel and show the existence of cubic time tensor flattening algorithm in this case. Finally, we illustrate the usefulness of our contributions using standard data sets and image segmentation tasks.

A hybrid finite element formulation for flexible multibody dynamics

This work deals with the transient analysis of flexible multibody systems within a hybrid finite element framework. Hybrid finite elements are based on a two-field variational formulation in which the displacements and stresses are interpolated separately yielding very good coarse mesh accuracy. Most of the literature on flexible multibody systems uses beam-theory-based formulations. In contrast, the use of hybrid finite elements uses continuum-based elements, thus avoiding the problems associated with rotational degrees of freedom. In particular, any given three-dimensional constitutive relations can be directly used within the framework of this formulation. Since the coarse mesh accuracy as compared to a conventional displacement-based formulation is very high, the scheme is cost effective as well. A general formulation is developed for the constrained motion of a given point on a line manifold, using a total Lagrangian method. The multipoint constraint equations are implemented using Lagrange multipliers. Various kinds of joints such as cylindrical, prismatic, and screw joints are implemented within this general framework. Hinge joints such as spherical, universal, and revolute joints are obtained simply by using shared nodes between the bodies. In addition to joints, the formulation and implementation details for a DC motor actuator and for prescribed relative rotation are also presented. Several example problems illustrate the efficacy of the developed formulation.

Two-Point Closure Strategy in the Mapping Closure Approximation Approach

A two-point closure strategy in mapping closure approximation (MCA) approach is developed for the evolution of the probability density function (PDF) of a scalar advected by stochastic velocity fields. The MCA approach is based on multipoint statistics. We formulate a MCA modeled system using the one-point PDFs and two-point correlations. The MCA models can describe both the evolution of the PDF shape and the rate at which the PDF evolves.

A comprehensive method for the elastic calculation of the two-point wheel-rail contact

This work shows the method developed to solve the wheel-rail contact problem via a look-up table with a three-dimensional elastic model. This method enables introduction of the two contact point effect on vehicle movement using three-dimensional analysis of surfaces including the influence of the angle of attack. This work presents several dynamic simulations and studies the impact that the introduction of the two contact points on three dimensions has on wear indexes and derailment risk against traditional bidimensional analysis. Furthermore, it studies advantages and disadvantages of using a look-up table against an on-line resolution of the problem.

Fishery management plans and the development of artisanal fisheries in Nigeria: a review

Management of natural resources all over the world is of paramount importance to their sustainability in developing countries like Nigeria, there is less emphasis on proper management especially of fishery and other aquatic resources due to lack of sensitization and enlightenment of the rural dwellers who are closer to such natural resources. The main thrust of this review is to examine the management plans for Nigerian freshwater bodies (rivers and lakes) and the impact of such plans on the artisanal fisheries development in Nigeria. From the on-shelf information gathered there is scarcity of information on the management of Nigerian freshwater body's information available indicates that there is the traditional fisheries management and the government legal approach in form of fisheries Laws and Regulations. However, these management techniques are poorly carried out since there is a poor follow-up. Appreciable impact of fisheries management introduced on Kanji Lake by the Nigerian-German Kanji Lake Fisheries Promotion Project (NGKLFPP) between 1993 and 2001 proves worthwhile as this introduced some management measures such as implementation of fisheries Laws and Regulations, the ban of obnoxious fishing methods, introduction of fishing license, constitution of a management unit and appointment of liaison fishermen. Within the operative years of the project a lot of success was achieved and it is recommended that the approach in Kainji should be replicated in other freshwater bodies in Nigeria to alleviate poverty in the rural poor fishing communities

A narrativa na e sobre a clínica na atenção primária: uma reflexão sobre o modo pensar e agir dirigido ao diálogo, à integralidade e ao cuidado em saúde

A incorporação do sujeito que adoece e suas expectativas de cuidado é um apelo que acompanha as propostas de mudança da prática clínica no campo da APS. Esta perspectiva implica em um novo modo de ver o processo de adoecimento que procura romper com o reducionismo biomédico onde a clínica e sua ação são, praticamente, independentes do discurso do paciente. Este trabalho usou a narrativa, aplicada como uma ferramenta conceitual e prática na clínica na APS, para investigar as possibilidades de ampliar o universo discursivo e interpretativo, isto é, a competência narrativa do médico, para além de um modelo biomédico restritivo. Foi realizada uma busca, não sistemática, na literatura médica e de ciências sociais procurando identificar os aspectos conceituais, significados e perspectivas que podem ser assumidos para substantivar a narrativa como um conceito/idéia e suas possíveis interfaces e aplicações na clínica. Esta apropriação da narrativa instrumentalizou a observação participante nos módulos do Programa Médico de Família de Niterói, assim como a realização e análise dos resultados de entrevistas semi-estruturadas com seus médicos. Observou-se que a formação da identidade e da legitimidade profissionais do médico de família é dirigida, principalmente, pelo arranjo organizacional promovido pelo modelo de atenção e não pelo desenvolvimento de um saber que o diferencie e qualifique. Identificou-se que as capacidades dialógicas desenvolvidas nas experiências com a clínica na APS eram compreendidas e assumidas pelos médicos como habilidades pessoais e/ou como aspectos morais. Percebeu-se que este modo de pensar dá margem a uma tensão, externada por um discurso ambíguo e fragmentado, entre a proximidade, o vínculo e o diálogo com o paciente e a estruturação do saber e da prática clínica. A limitação dos médicos em incorporar novos saberes a partir de suas vivências, associada à forma como a racionalidade biomédica dirige a clínica, se constituem como obstáculos epistemológicos e práticos para a ampliação da competência narrativa e interpretativa médica. Estas são condições que dificultam o desenvolvimento de um estilo de pensamento médico que reflita, desenvolva e integre o saber prático e os saberes não biomédicos como algo legítimo, sistematizável, avaliável e reprodutível no âmbito da clínica.

Figurações da intelectualidade no Brasil: a crônica de Lima Barreto

Lima Barreto aborda o intelectual do seu tempo a partir do seu ideal de arte social, e dentro deste ideal de arte o intelectual é aquele que mantém articulação com o saber, e faz disto um benefício para a coletividade (OAKLEY, 2011). Portanto, este trabalho aborda as figurações da intelectualidade no Brasil utilizando a idealização de arte e intelectual de Lima Barreto em nossas análises sobre a figura do intelectual. Inevitavelmente ao tratar da temática do intelectual não poderíamos deixar de abordar a própria figura de Lima Barreto como intelectual em seu tempo. Assim sendo, busca-se compreender Lima Barreto como intelectual preterido por seus contemporâneos, bem como não engajado em lutas de classes sociais, distante de qualquer categoria de intelectual orgânico de Gramsci. Com isto infere-se que Lima Barreto não fazia parte da elite intelectual da Belle Époque, e nem era porta-voz do subúrbio. Ele foi um escritor e intelectual militante somente de uma causa: a arte como ferramenta para comunhão entre os homens. Escolhemos o gênero crônica por ela ser algo diário, escrita de observador e gênero onde Lima pode explorar a sua escrita irônica e sarcástica sobre diversos temas, em especial o intelectual (SÁ, 2005). Portanto, as crônicas de Lima Barreto podem nos oferecer uma melhor representação dessas figurações do intelectual, seja na política, imprensa ou literatura. Lima Barreto vai construir seu ideal de arte e intelectual dentro da sociedade Belle Époque, sociedade essa que abrigava um trabalho de elaboração da literatura em que a forma era mais importante do que o conteúdo e fomentava a política de modernização do país numa clara imitação dos modos e costumes europeus em nossa literatura. Ao contrário disto, Lima Barreto defendia que o importante, para o intelectual, era o trato com o conteúdo, ser contemporâneo, uma relação verdadeira com a inteligência e que sua escrita estivesse a serviço do bem comum. Evidente que a literatura idealizada por Lima Barreto era utópica, mas militante, e é por isso que ele, Lima Barreto, é um intelectual de resistência