Cartographie génétique d’une forme familiale autosomale dominante d’anévrysmes du septum inter-ventriculaire et de communications inter-ventriculaires au chromosome 10p15

Les malformations cardiaques congénitales (CHM) représentent 28 % de toutes les malformations congénitales majeures et touchent 8 pour 1000 naissances à terme. Elles sont la cause de mortalité et de morbidité non infectieuse la plus fréquente chez les enfants de moins d’une année de vie. Les communications interventriculaires (VSD) forment le sous-type de CHM le plus fréquent et l’aggrégation familiale est extrêmement rare. Le but de cette étude était d’identifier les facteurs génétiques et les régions chromosomiques contribuant aux VSD. Une grande famille ségréguant diverses formes de pathologies septales, incluant des VSD, des anévrysmes du septum interventriculaire (VSA) et des communications interauriculaires (ASD), a été examinées et caractérisées cliniquement et génétiquement. Dix-huit membres de la famille, sur trois générations, ont pu être étudiés. (10 affectés : 4 VSD, 3 VSA, 2 ASD et une tétralogie de Fallot). L’analyse de liaison multipoint paramétrique démontre un logarithme des probabilités maximal (LOD) de 3.29 liant significativement le chromosome 10p15.3-10p15.2 aux traits observés dans cette famille. Le pointage LOD oriente vers une région pauvre en gènes qui a déjà été associée aux malformations du septum interventriculaire, mais qui est distincte de la région du syndrome de DiGeorge de type 2 sur le chromosome 10p. De plus, plusieurs scénarios d’analyse de liaison suggèrent que la tétralogie de Fallot est une phénocopie et qu’elle est donc génétiquement différente des autres pathologies du septum observées dans cette famille. En bref, cette étude associe une forme rare de VSD/VSA au chromosome 10p15 et permet d’étendre le spectre de l’hétérogénéité des pathologies septales. Mots-clés : Malformations cardiaques congénitales, malformations du septum, tétralogie de Fallot, analyse de liaison, chromosome 10p15, génétique moléculaire

Caractérisation génétique d'un effet fondateur du sud-ouest du Québec : une nouvelle forme de dystrophie musculaire des ceintures

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Caractérisation génétique d'un effet fondateur du sud-ouest du Québec : une nouvelle forme de dystrophie musculaire des ceintures

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

GLBTI police liaison services : a critical analysis of existing literature

GLBTI (gay, lesbian, bisexual, transgender, intersex) police liaison programs have been an important part of policing these communities for a number of decades now. In fact, this model appears to dominate approaches as the preferred way to manage relationships between GLBTI communities and police. Interestingly, while this model dominates, research on the effectiveness of this model, and the services that align with it, is limited. To date, only few studies have asked critical questions about the effectiveness of GLBTI police liaison services. For instance, we know that over 70% of GLBTI communities are aware of police liaison services, but only 4% of those victimised access them (Berman & Robinson, 2010). This paper critically examines existing literature about GLBTI police liaison services to demonstrate key themes and omissions. It argues that police liaison services as a preferred model has been taken for granted as the correct way of engaging with GLBTI communities in ways that may exclude other forms of engagement, and suggests that further research into these liaison programs is necessary if the relationships between GLBTI communities and the police are to be strengthened.

Offending behaviour and mental illness : characteristics of a mental health court liaison service

This paper begins with a brief review of recent literature about relationships between offending behaviour and mental illness, classifying studies by the settings within which they occurred. The establishment and role of a mental health court liaison (MHCL) service is then described, together with findings from a 3-year service audit, including an examination of relationships between clients’ characteristics and offence profiles, and comparisons with regional offence data. During the audit period, 971 clients (767 males, 204 females) were referred to the service, comprising 1139 service episodes, 35.5% of which involved a comorbid substance use diagnosis. The pattern of offences for MHCL clients was reasonably similar to the regional offence data, except that among MHCL clients there were proportionately more offences against justice procedures (e.g., breaches of apprehended violence orders [AVOs]) and fewer driving offences and “other offences”. Additionally, male MHCL clients had proportionately more malicious damage and robbery offences and lower rates of offensive behaviour and drug offences. A range of service and research issues is also discussed. Overall, the new service appears to have forged more effective links between the mental health and criminal justice systems.

Extended liaison as an interface between product and process model in assembly

This paper describes the use of liaison to better integrate product model and assembly process model so as to enable sharing of design and assembly process information in a common integrated form and reason about them. Liaison can be viewed as a set, usually a pair, of features in proximity with which process information can be associated. A liaison is defined as a set of geometric entities on the parts being assembled and relations between these geometric entities. Liaisons have been defined for riveting, welding, bolt fastening, screw fastening, adhesive bonding (gluing) and blind fastening processes. The liaison captures process specific information through attributes associated with it. The attributes are associated with process details at varying levels of abstraction. A data structure for liaison has been developed to cluster the attributes of the liaison based on the level of abstraction. As information about the liaisons is not explicitly available in either the part model or the assembly model, algorithms have been developed for extracting liaisons from the assembly model. The use of liaison is proposed to enable both the construction of process model as the product model is fleshed out, as well as maintaining integrity of both product and process models as the inevitable changes happen to both design and the manufacturing environment during the product lifecycle. Results from aerospace and automotive domains have been provided to illustrate and validate the use of liaisons. (C) 2014 Elsevier Ltd. All rights reserved.

Graded IR Filters: Distinguishing Between Single and Multipoint NO2 center dot center dot center dot I Halogen Bonded Supramolecular Synthons (P, Q, and R Synthons)

The NO2 center dot center dot center dot I supramolecular synthon is a halogen bonded recognition pattern that is present in the crystal structures of many compounds that contain these functional groups. These synthons have been previously distinguished as P, Q, and R types using topological and geometrical criteria. A five step IR spectroscopic sequence is proposed here to distinguish between these synthon types in solid samples. Sets of known compounds that contain the P, Q, and R synthons are first taken to develop IR spectroscopic identifiers for them. The identifiers are then used to create graded IR filters that sieve the synthons. These filters contain signatures of the individual NO2 center dot center dot center dot I synthons and may be applied to distinguish between P, Q, and R synthon varieties. They are also useful to identify synthons that are of a borderline character, synthons in disordered structures wherein the crystal structure in itself is not sufficient to distinguish synthon types, and in the identification of the NO2 center dot center dot center dot I synthons in compounds with unknown crystal structures. This study establishes clear differences for the three different geometries P, Q, and Rand in the chemical differences in the intermolecular interactions contained in the synthons. Our IR method can be conveniently employed when single crystals are not readily available also in high throughput analysis. It is possible that such identification may also be adopted as an input for crystal structure prediction analysis of compounds with unknown crystal structures.

The use of a biased heuristic by a genetic algorithm applied to the design of multipoint connections in a local access network

This paper presents a genetic algorithm for finding a constrained minimum spanning tree. The problem is of relevance in the design of minimum cost communication networks, where there is a need to connect all the terminals at a user site to a terminal concentrator in a multipoint (tree) configuration, while ensuring that link capacity constraints are not violated. The approach used maintains a distinction between genotype and phenotype, which produces superior results to those found using a direct representation in a previous study.

Evaluation of a hospital-based community liaison pharmacy service in Northern Ireland

Objective: To evaluate the impact of a hospital based community liaison pharmacy service on a range of outcomes in patients aged more than 55 years and taking more than 3 prescribed drugs, who had been admitted to the medical unit of a district general hospital in Northern Ireland.

Analgesics:a comparison of therapeutic knowledge and inter-professional liaison between general practitioners and community pharmacists

The aim of this study was to ascertain general practitioners' (GPs') and pharmacists' knowledge of analgesics, to establish professional opinion on their use, and to assess the extent of pharmacist input into the prescribing of analgesics. Pharmacists displayed a better knowledge of analgesics than their colleagues in general practice, but had little input into the prescribing decisions made by GPs. Pharmacists' knowledge is not being put to best use in contributing to the preparation of practice formularies, and links between these two health professional groups need to be developed further.

Effectiveness of Criminal Justice Liaison and Diversion Services for Offenders With Mental Disorders: A Review

Objective: The authors evaluated and synthesised the best-available evidence relating to the effectiveness of CJLD service models with respect to changes in mental health status and/or criminal recidivism.Methods: Research examining the effectiveness of CJLD services when compared to traditional Criminal Justice System (CJS) responses was reviewed and systematically appraised according to Campbell/Cochrane guidelines. Key outcomes included a reduction in offending and post-intervention changes in mental health. Results: Comprehensive searches of published and unpublished literature identified 6571 studies which varied considerably in terms of their methodological approach and overall quality. Ten studies met the inclusion criteria. The synthesised findings indicated that, when compared to traditional CJS outcomes, CJLD services appeared to be effective in terms of identifying MDOs and impacting positively on criminal justice and mental health outcomes.Conclusions: Although the evidence may be deemed to be moderate in terms of methodological rigour, overall, the findings suggest that CJLD services can be beneficial. The effectiveness of services depends upon the model of service delivery, the availability of community services and the engagement of MDOs.The successful implementation of CJLD services requires a clearer recognition of the importance of system of care principles.