Noncompaction in Healthy Subjects, Dilated and Hypertrophic Cardiomyopathy, and Neuromuscular Disorders Is the Same Entity

With interest we read the article by Khosroshahi et al. about a novel method for quantification of left ventricular hypertrabeculation/noncompaction (LVHT) using two-dimensional echocardiography in children (1). We appreciate their efforts to contribute to an improvement and unification of echocardiographic diagnostic criteria for LVHT, which is urgently needed. Concerning their proposed method, we have the following questions and concerns:

Atopic Manifestations: Dermatitis, Allergic Rhinitis and Asthma in Patients With Hypogammaglobulinemia

Background: Most of the hypogammaglobulinemic patients have a clinical history in favor of allergic respiratory disease. Nevertheless, in these patients the importance and prevalence of atopic disorders have not been completely explained. Objectives: This study was aimed to evaluate atopic manifestations (dermatitis, allergic rhinitis and asthma) and pulmonary function in patients with hypogammaglobulinemia. Patients and Methods: We used the international study of asthma and allergies in childhood (ISAAC) questionnaire in forty-five patients diagnosed with hypogammaglobulinemia and spirometry was done in 41 patients older than 5 years. Results: Spirometry results were normal in 21 (51%), and showed obstructive in 15 (37%) and restrictive pattern in 5 (12%) of the 41 patients who were evaluated. By the end of the study, asthma was diagnosed in nine (20%) patients and other atopies (rhinitis and dermatitis) identified in 10 (22%), and four (9%), respectively. Conclusions: Atopic conditions should be investigated in the hypogammaglobulinemic patients and the prevalence in these patients may be higher than in normal population. Also, it is recommended to perform a pulmonary function test as a routine procedure in patients with hypogammaglobulinemia and atopy should be assessed in these patients.

Programme d'intervention visant la diminution des manifestations d'opposition et de provocation chez les enfants de 3 ans par l'apprentissage des habiletés sociales et d'autocontrôle, en intégrant un volet soutien à l'éducatrice au programme Brindami

Rapport d'analyse d'intervention présenté à la Faculté des arts et sciences en vue de l'obtention du grade de Maîtrise ès sciences (M. Sc.) en psychoéducation.

Efeitos do suster-relaxar na cinemática tridimensional, função neuromuscular e sintomatologia álgica de um atleta de crossfit com dor lombar

Projeto de Graduação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Licenciado em Fisioterapia

Programme d'intervention visant la diminution des manifestations d'opposition et de provocation chez les enfants de 3 ans par l'apprentissage des habiletés sociales et d'autocontrôle, en intégrant un volet soutien à l'éducatrice au programme Brindami

Rapport d'analyse d'intervention présenté à la Faculté des arts et sciences en vue de l'obtention du grade de Maîtrise ès sciences (M. Sc.) en psychoéducation.

Investigating the Roles and Requirements, Manifestations and Management of Metadata in the Creation of Reliable and Preservation of Authentic Electronic Entities Created by Dynamic, Interactive and Experiential Systems: Report on the Work and Findings of the Interpares 2 Description Cross Domain Group

Metadata that is associated with either an information system or an information object for purposes of description, administration, legal requirements, technical functionality, use and usage, and preservation, plays a critical role in ensuring the creation, management, preservation and use and re-use of trustworthymaterials, including records. Recordkeeping1 metadata, of which one key type is archival description, plays a particularly important role in documenting the reliability and authenticity of records and recordkeeping systemsas well as the various contexts (legal-administrative, provenancial, procedural, documentary, and technical) within which records are created and kept as they move across space and time. In the digital environment, metadata is also the means by which it is possible to identify how record components – those constituent aspects of a digital record that may be managed, stored and used separately by the creator or the preserver – can be reassembled to generate an authentic copy of a record or reformulated per a user’s request as a customized output package.Issues relating to the creation, capture, management and preservation of adequate metadata are, therefore, integral to any research study addressing the reliability and authenticity of digital entities, regardless of the community, sector or institution within which they are being created. The InterPARES 2 Description Cross-Domain Group (DCD) examined the conceptualization, definitions, roles, and current functionality of metadata and archival description in terms of requirements generated by InterPARES 12. Because of the needs to communicate the work of InterPARES in a meaningful way across not only other disciplines, but also different archival traditions; to interface with, evaluate and inform existing standards, practices and other research projects; and to ensure interoperability across the three focus areas of InterPARES2, the Description Cross-Domain also addressed its research goals with reference to wider thinking about and developments in recordkeeping and metadata. InterPARES2 addressed not only records, however, but a range of digital information objects (referred to as “entities” by InterPARES 2, but not to be confused with the term “entities” as used in metadata and database applications) that are the products and by-products of government, scientific and artistic activities that are carried out using dynamic, interactive or experiential digital systems. The nature of these entities was determined through a diplomatic analysis undertaken as part of extensive case studies of digital systems that were conducted by the InterPARES 2 Focus Groups. This diplomatic analysis established whether the entities identified during the case studies were records, non-records that nevertheless raised important concerns relating to reliability and authenticity, or “potential records.” To be determined to be records, the entities had to meet the criteria outlined by archival theory – they had to have a fixed documentary format and stable content. It was not sufficient that they be considered to be or treated as records by the creator. “Potential records” is a new construct that indicates that a digital system has the potential to create records upon demand, but does not actually fix and set aside records in the normal course of business. The work of the Description Cross-Domain Group, therefore, addresses the metadata needs for all three categories of entities.Finally, since “metadata” as a term is used today so ubiquitously and in so many different ways by different communities, that it is in peril of losing any specificity, part of the work of the DCD sought to name and type categories of metadata. It also addressed incentives for creators to generate appropriate metadata, as well as issues associated with the retention, maintenance and eventual disposition of the metadata that aggregates around digital entities over time.

Les manifestations d’autodétermination par les élèves ayant participé à la TÉVA sur les plans scolaire, professionnel et personnel

Cet essai s’intéresse à l’autonomie des jeunes adultes ayant un handicap moteur, physique, sensoriel ou intellectuel et qui ont participé à la démarche de la transition de l’école à la vie active (TÉVA). L’objectif de l’essai est de répertorier les manifestations d’autodétermination dans leur vie professionnelle, scolaire et personnelle. Le contenu des 23 entrevues conduites auprès d’élèves ayant participé à la TÉVA ou de leurs proches dans le cadre d’une étude de Bourdon et Lessard (2015) portant sur la modélisation de la démarche TÉVA en Estrie a été analysé afin d’en extraire les manifestations d’autodétermination. L’analyse thématique des entrevues a permis d’identifier des manifestations d’autodétermination issues d’une régulation externe, d’une régulation introjectée et d’une régulation identifiée. Les résultats obtenus révèlent que les jeunes adultes ayant participé à la TÉVA semblent avoir une bonne connaissance d’eux-mêmes, de leurs intérêts scolaires et professionnels. En contrepartie, le sentiment de compétence, la fierté personnelle et la connaissance des actions à poser pour atteindre leurs objectifs semblent se présenter moins fréquemment en termes de manifestation d’autodétermination chez les jeunes adultes de l’échantillon. Dans peu de cas, les élèves ont rapporté avoir entamé de leur propre chef des démarches pour obtenir un milieu de stage pour lequel ils entretenaient de l’intérêt. L'analyse des entrevues a également révélé que la conseillère ou le conseiller d'orientation ne semble pas être une professionnelle ou un professionnel particulièrement sollicité pour soutenir les élèves en difficulté dans l'élaboration d'un projet professionnel. Bien que l’implication de la famille et du milieu scolaire des jeunes à propos de la transition à la vie adulte et de l’élaboration de projets soit sans aucun doute essentielle, les compétences du conseiller d’orientation en matière d’accompagnement des élèves dans l’élaboration et la mise en œuvre d’un projet scolaire ou professionnel pourraient être également mises à profit pour mieux préparer et accompagner les jeunes adultes dans leur transition. Ainsi, les données analysées dans le cadre de cet essai indiquent qu’il y a une place à prendre pour les conseillers d’orientation dans le soutien des élèves vivant avec un handicap.

Registro de pacientes con distrofinopatías en Colombia

INTRODUCCIÓN. La distrofia muscular de Duchenne es una enfermedad neuromuscular con una herencia recesiva ligada al X que afecta a 1 de cada 3500 niños nacidos vivos. Se produce por mutaciones en el gen DMD que codifica para la distrofina. Se caracteriza por manifestaciones clínicas variables típicas de una distrofia muscular proximal progresiva. OBJETIVO. Realizar el primer registro en Colombia de los pacientes identificados con distrofinopatías, teniendo en cuenta características clínicas y paraclínicas, así como las mutaciones causales de esta patología. METODOLOGÍA Es un estudio descriptivo, transversal, de la revisión de historias clínicas de los pacientes con diagnóstico de DMD atendidos en la consulta de Genética de la Universidad del Rosario durante los años 2006 a 2015. RESULTADOS Se identificaron 99 pacientes, de los cuales 56 (56,56%) corresponden al fenotipo Duchenne y 12 (12,12%) al Becker. No fue posible clasificar a 31 pacientes (31,3%) por falta de datos clínicos. La edad de inicio de los síntomas fue en promedio de 4,41 años. Las mutaciones más frecuentes fueron las deleciones (69%), seguidas por las mutaciones puntuales(14%), las duplicaciones (11%) y por otras mutaciones (4%). CONCLUSIONES Este registro de distrofinopatías es el primero reportado en Colombia y el punto de partida para conocer la incidencia de la enfermedad, caracterización clínica y molecular de los pacientes, garantizando así el acceso oportuno a los nuevos tratamientos de medicina de precisión que permitan mejorar la calidad de vida de los pacientes y sus familias.

Manifestations of Stigma and Prejudice Informed by Treated Lepers

Introduction: The segregation of people affected by leprosy in lepercolonies as well as presenting itself ineffective, caused irreversible and irreparable consequences in the lives of individuals who came to carry the marks of stigma and prejudice surrounding the disease. Objective: To identify traits related to the stigma and prejudice in the content of lepers' 12 speeches, separated compulsorily in Saint Francis of Assisi Colony in the city of Natal, located in the state of Rio Grande do Norte. Method: Descriptive study focusing on the oral history of life. The narratives were collected in April 2010 through a recorded interview and analyzed by means of the technique of Thematic Content Analyses. Results: The stigma and the prejudice crystallized in our culture had caused and still cause huge suffering and pain in the participants, who grew up and several aged in biological terms, living with a stigmatizing disease and its complications, sometimes disabling ones. In social and psychological terms, they were discriminated, rejected and even expelled from the familiar conviviality and the original social nucleus. Conclusion: In this manner, one notices the need of these people recover their attachments, values and self-esteem, share feelings and build relationships so as to be integrated in the real world.

Necessary skills and practices required for effective participation in high bandwidth design team activities

Technology is continually changing, and evolving, throughout the entire construction industry; and particularly in the design process. One of the principal manifestations of this is a move away from team working in a shared work space to team working in a virtual space, using increasingly sophisticated electronic media. Due to the significant operating differences when working in shared and virtual spaces adjustments to generic skills utilised by members is a necessity when moving between the two conditions. This paper reports an aspect of a CRC-CI research project based on research of ‘generic skills’ used by individuals and teams when engaging with high bandwidth information and communication technologies (ICT). It aligns with the project’s other two aspects of collaboration in virtual environments: ‘processes’ and ‘models’. The entire project focuses on the early stages of a project (i.e. design) in which models for the project are being developed and revised. The paper summarises the first stage of the research project which reviews literature to identify factors of virtual teaming which may affect team member skills. It concludes that design team participants require ‘appropriate skills’ to function efficiently and effectively, and that the introduction of high band-width technologies reinforces the need for skills mapping and measurement.

Generative Music editorial

An issue on generative music in Contemporary Music Review allows space to explore many of these controversies, and to explore the rich algorithmic scene in contemporary practice, as well as the diverse origins and manifestations of such a culture. A roster of interesting exponents from both academic and arts practice backgrounds are involved, matching the broad spectrum of current work. Contributed articles range from generative algorithms in live systems, from live coding to interactive music systems to computer games, through algorithmic modelling of longer-term form, evolutionary algorithms, to interfaces between modalities and mediums, in algorithmic choreography. A retrospective on the intensive experimentation into algorithmic music and sound synthesis at the Institute of Sonology in the 1960s and 70s creates a complementary strand, as well as an open paper on the issues raised by open source, as opposed to proprietary, software and operating systems, with consequences in the creation and archiving of algorithmic work.