Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

Immobilized Kidney 28-kDa Endostatin- Related (KES28kDa) Fragment Promotes Endothelial Cell Survival

Background/Objective: Renal ischemia-hypoxia is a leading cause of acute kidney injury (AKI). Ischemia causes extracellular matrix breakdown of the tubular basement membrane. Endostatin (ES) is the C-terminal fragment of collagen XVIII generated by proteolytic cleavage. Recent studies have demonstrated that ES expression is upregulated in ischemic kidneys. The present study aimed to characterize ES from ischemic kidneys. Methods: Ischemic renal failure was induced via 45 min of occlusion of the left renal artery and vein. After the ischemic period, blood was collected. Kidneys were harvested and used for immunohistochemical testing and protein extraction. Three-step purification was used. Soluble and immobilized purified ES were tested in cell viability and adhesion assays. Results: The soluble KES28kDa inhibited endothelial cell proliferation: 25 versus 12.5 mu g (p < 0.05); 12.5 versus 3.15 mu g (p < 0.05). Immobilization of KES28kDa supports endothelial cell survival over the control p = 0.021). Human umbilical vein endothelial cells plated on immobilized KES28kDa showed an increase in membrane ruffles and stress fibers. Conclusion: These data demonstrate the local synthesis of a 28-kDa ES-related fragment following AKI and suggest its role in endothelium survival. Copyright (C) 2010 S. Karger AG, Basel

Total absolute horospherical curvature of submanifolds in hyperbolic space

We study the horospherical geometry of submanifolds in hyperbolic space. The main result is a formula for the total absolute horospherical curvature of M, which implies, for the horospherical geometry, the analogues of classical inequalities of the Euclidean Geometry. We prove the horospherical Chern-Lashof inequality for surfaces in 3-space and the horospherical Fenchel and Fary-Milnor`s theorems.

TAUT REPRESENTATIONS OF COMPACT SIMPLE LIE GROUPS

The concept of taut submanifold of Euclidean space is due to Carter and West, and can be traced back to the work of Chern and Lashof on immersions with minimal total absolute curvature and the subsequent reformulation of that work by Kuiper in terms of critical point theory. In this paper, we classify the reducible representations of compact simple Lie groups, all of whose orbits are tautly embedded in Euclidean space, with respect to Z(2)-coefficients.

A new tick Kunitz type inhibitor, Amblyomin-X, induces tumor cell death by modulating genes related to the cell cycle and targeting the ubiquitin-proteasome system

The aim of this study was to evaluate the anti-tumor activity of Amblyomin-X, a serine protease Kunitz-type inhibitor. Amblyomin-X induced tumor mass regression and decreased number of metastatic events in a B16F10 murine melanoma model. Alterations on expression of several genes related to cell cycle were observed when two tumor cell lines were treated with Amblyomin-X. PSMB2, which encodes a proteasome subunit, was differentially expressed, in agreement to inhibition of proteasomal activity in both cell lines. In conclusion, our results indicate that Amblyomin-X selectively acts on tumor cells by inducing apoptotic cell death, possibly by targeting the ubiquitin-proteasome system. (C) 2010 Elsevier Ltd. All rights reserved.

A Harmonized Vocabulary For Water Quality

Interoperability of water quality data depends on the use of common models, schemas and vocabularies. However, terms are usually collected during different activities and projects in isolation of one another, resulting in vocabularies that have the same scope being represented with different terms, using different formats and formalisms, and published in various access methods. Significantly, most water quality vocabularies conflate multiple concepts in a single term, e.g. quantity kind, units of measure, substance or taxon, medium and procedure. This bundles information associated with separate elements from the OGC Observations and Measurements (O&M) model into a single slot. We have developed a water quality vocabulary, formalized using RDF, and published as Linked Data. The terms were extracted from existing water quality vocabularies. The observable property model is inspired by O&M but aligned with existing ontologies. The core is an OWL ontology that extends the QUDT ontology for Unit and QuantityKind definitions. We add classes to generalize the QuantityKind model, and properties for explicit description of the conflated concepts. The key elements are defined to be sub-classes or sub-properties of SKOS elements, which enables a SKOS view to be published through standard vocabulary APIs, alongside the full view. QUDT terms are re-used where possible, supplemented with additional Unit and QuantityKind entries required for water quality. Along with items from separate vocabularies developed for objects, media, and procedures, these are linked into definitions in the actual observable property vocabulary. Definitions of objects related to chemical substances are linked to items from the Chemical Entities of Biological Interest (ChEBI) ontology. Mappings to other vocabularies, such as DBPedia, are in separately maintained files. By formalizing the model for observable properties, and clearly labelling the separate concerns, water quality observations from different sources may be more easily merged and also transformed to O&M for cross-domain applications.

Harmonization Of Vocabularies For Water Data

Observational data encodes values of properties associated with a feature of interest, estimated by a specified procedure. For water the properties are physical parameters like level, volume, flow and pressure, and concentrations and counts of chemicals, substances and organisms. Water property vocabularies have been assembled at project, agency and jurisdictional level. Organizations such as EPA, USGS, CEH, GA and BoM maintain vocabularies for internal use, and may make them available externally as text files. BODC and MMI have harvested many water vocabularies alongside others of interest in their domain, formalized the content using SKOS, and published them through web interfaces. Scope is highly variable both within and between vocabularies. Individual items may conflate multiple concerns (e.g. property, instrument, statistical procedure, units). There is significant duplication between vocabularies. Semantic web technologies provide the opportunity both to publish vocabularies more effectively, and achieve harmonization to support greater interoperability between datasets. - Models for vocabulary items (property, substance/taxon, process, unit-of-measure, etc) may be formalized OWL ontologies, supporting semantic relations between items in related vocabularies; - By specializing the ontology elements from SKOS concepts and properties, diverse vocabularies may be published through a common interface; - Properties from standard vocabularies (e.g. OWL, SKOS, PROV-O and VAEM) support mappings between vocabularies having a similar scope - Existing items from various sources may be assembled into new virtual vocabularies However, there are a number of challenges: - use of standard properties such as sameAs/exactMatch/equivalentClass require reasoning support; - items have been conceptualised as both classes and individuals, complicating the mapping mechanics; - re-use of items across vocabularies may conflict with expectations concerning URI patterns; - versioning complicates cross-references and re-use. This presentation will discuss ways to harness semantic web technologies to publish harmonized vocabularies, and will summarise how many of the challenges may be addressed.

O controle gerencial em redes de negócios: um estudo de caso no segmento de livrarias

Tese apresentada ao Programa de Pós-graduação em Administração - Doutorado, da Universidade Municipal de São Caetano do Sul.

O gestor e a justiça organizacional

Os estudos sobre justiça organizacional são escassos no Brasil e estão circunscritos ao meio acadêmico; não há livros publicados em português e, nem mesmo sob a perspectiva gerencial, o tema é debatido. No entanto, países como os Estados Unidos possuem uma história de pesquisa de mais de 40 anos sobre o assunto que evidenciam resultados efetivos quando a percepção de justiça organizacional por parte dos funcionários aumenta: aumento no comprometimento, tempo de permanência na empresa, satisfação dos clientes e, finalmente, lucratividade da organização. Este estudo exploratório teve como objetivo pesquisar a literatura recente sobre o tema e analisar as relações existentes entre a percepção de justiça dos gestores e seus subordinados e suas conseqüências no exercício profissional dentro das organizações. Uma pesquisa de campo foi feita na Volkswagen do Brasil Ltda. - Indústria de Veículos Automotores com o objetivo de estudar a percepção de justiça de um grupo de funcionários e analisá-las à luz dos modelos teóricos apresentados. A pesquisa adota como objetivo amplo a possibilidade de despertar a atenção dos gestores corporativos para esta questão e o iniciar da construção de um ferramental prático para que estes possam atuar de forma consciente e efetiva em relação à justiça dentro de seu grupo de trabalho. A primeira parte do trabalho traz uma revisão da literatura sobre justiça organizacional: as teorias clássicas e as mais recentes que, como poderá ser visto, abrangem também elementos clássicos, desenvolvendo, porém, novas perspectivas de leitura do fenômeno. À administração de conflitos, intrinsecamente relacionada à questão da justiça nas organizações, foi dedicado uma seção. Após a apresentação do corpo teórico, a importância do tema para os gestores e organizações é ilustrada através dos relatos dos estudos realizados por Simons e Roberson (2003) e Masterson (2001). Ao final, é apresentado o trabalho de campo, apontadas as conclusões e enunciadas sugestões para futuros estudos sobre o tema nas organizações brasileiras.

A dupla poética do silêncio: uma análise de Fogo morto e Cartilha do silêncio.

This research presents a reading of the poetics of silence in the profile and actions of characters in Fogo morto, by Paraiba s novelist José Lins do Rego and Cartilha do silêncio, by Sergipe s writer José Francisco Costa Dantas. As a starting point, we intend to demonstrate, through analysis, how the traditional issue of patriarchy, installed in rural areas of Northeast Brazil, live their momentum of rise and decline in different social spaces within narratives. This article shows how man lives tensions caused by the socio-political changes that will gradually be deployed in their environment due to the process of transition from traditional to modern life. From this perspective, this reading encourages a critical reflection on the social space of the mills and farms at the time of their rise and decay, as well as the various gender relationships between the feminine and the masculine world. The analysis indicates that all the changes both in family and social space unfold a world of silent variants and this paper takes as its theoretical basis the concept of silence built from the reflections of Eni Puccinelli Orlandi (2002), Barros Lourival Holland (1990 ), Luiz Costa Lima (1974) and Marisa Simons (1999).

Towards a worldsheet derivation of the Maldacena conjecture

A U(2,2 vertical bar 4)-invariant A-model constructed from fermionic superfields has recently been proposed as a sigma model for the superstring on AdS(5) X S(5). After explaining the relation of this A-model with the pure spinor formalism, the A-model action is expressed as a gauged linear sigma model. In the zero radius limit, the Coulomb branch of this sigma model is interpreted as D-brane holes which are related to gauge-invariant N = 4 d=4 super-Yang-Mills operators. As in the worldsheet derivation of open-closed duality for Chem-Simons theory, this construction may lead to a worldsheet derivation of the Maldacena conjecture. Intriguing connections to the twistorial formulation of N = 4 Yang-Mills are also noted. (Republished with permission of JHEP from JHEP 0803:031, 2008.)

Myofascial Pain Syndrome as a Contributing Factor in Patients with Chronic Headaches

Objectives: The purpose of this study was to evaluate the prevalence of active and latent trigger points [TrPs], as well as analyze the prevalence of different types of headaches in chronic headache patients. The active and latent TrPs in muscles of orofacial and cervical regions were also evaluated. Methods: There were 290 subjects who participated in this study. Trigger points were identified according to Simons et al.'s diagnostic criteria. Trigger points were considered active if subjects recognized the evoked referred pain as their familiar headache. If the evoked referred pain was not recognized as the familiar headache, the TrPs were considered latent. Differential diagnosis for headache was performed on the basis of International Headache Society criteria. Results: Trigger points could be diagnosed in 77 percent of patients and, in 89 percent of these, active TrPs were found. Muscle tenderness could be observed in 22 percent of patients, and only 1 percent patients were muscle-pain-free. The headache diagnosis showed that 26 percent had tension-type headache, 13 percent had migraine, and 61 percent had combined episodes of tension-type headache and migraine. The highest number of TrPs were found in temporalis [N = 159], masseter [N = 126], and occiptofrontalis [N = 113] muscles. Active TrPs were more frequent in temporalis and occiptofrontalis muscles. Conclusions: Subjects with chronic headaches had a higher prevalence of TrPs, and headache complaints could be reproduced during stimulation of active TrPs that were localized more frequently in temporalis and occiptofrontalis muscles. The presence of TrPs may be a contributing factor in the initiation and/or perpetuation of chronic headaches.

Un sistema para procesar proyecciones de población PRODEM

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