Portrait de la planification de l’implantation du cadre de référence des ressources intermédiaires et de type familial au sein du réseau des établissements de santé et services sociaux du Québec

Suivant l’entrée en vigueur de la Loi sur la représentation des ressources (LRR), le nouveau cadre de référence ressources intermédiaires (RI) et de type familial (RTF) élaboré par le ministère de la Santé et des Services sociaux encadre les changements de pratiques professionnelles. Sachant qu’un tel changement peut entraîner certaines résistances et même un échec, une revue des facteurs favorisant une implantation a été développée, l’objectif étant de dresser un portrait de la situation quant à la planification réalisée dans chacun des établissements. Ainsi, un questionnaire a été envoyé à tous les gestionnaires responsables de l’application du nouveau cadre de référence RI-RTF. Les résultats montrent notamment des lacunes quant à la prévision des incitatifs motivationnels, au développement des objectifs et des indicateurs nécessaires pour suivre l’implantation et favoriser la motivation. Il en ressort aussi que le cadre RI-RTF s’intègre bien à la culture et aux valeurs des établissements.

Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

BACKGROUND: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis. MAIN OBSERVATIONS: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband. CONCLUSIONS: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

BACKGROUND: Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the safety, tolerability, pharmacokinetics, and pharmacodynamics of multiple doses of patisiran (ALN-TTR02), a small interfering RNA encapsulated within lipid nanoparticles, in patients with transthyretin-mediated familial amyloid polyneuropathy (FAP).

Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia

Still a big gap exists between clinical and genetic diagnosis of dyslipidemic disorders. Almost the 60% of the patients with a clinical diagnosis of Familial hypercholesterolemia (FH) still lack of a genetic diagnosis. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease. Interesting hits will be subsequently knocked down in vitro in order to evaluate their functional role in the uptake of fluorescently-labeled LDL and free cell cholesterol using automated microscopy.

Familial Hypercholesterolemia in Portugal: analysis of biomarkers

Aims of the study: 1) Cardiovascular risk assessment of a cohort of children with a clinical diagnosis of FH; 2) Identification of biomarkers to distinguish between monogenic and polygenic/environmental dyslipidemia in clinical settings; 3) Clinical criteria improvement to identify FH children.

Functional genomics of Familial Hypercholesterolemia

Main Aim of the study: to identify the cause of the dyslipidaemia in patients with a clinical phenotype of Familial Hypercholesterolaemia (FH).

Functional genomics of Familial Hypercholesterolemia

Main aim of the Portuguese Family Hypercholesterolemia study: to identify the cause of the dyslipidaemia in patients with a clinical phenotype of Familial Hypercholesterolaemia (FH).

L'insaisissable catégorie sociale d'enfants orphelins d'Afrique: de quoi parle-t-on?

There is no definition of orphans that would allow to know without confusion who is an orphan child. This article analyses the challenges and difficulties in defining and targeting the social category of orphans. It is based on a number of works, as well as the field research on the social actor's logics regarding the family support to orphans among the Mossi people in Ouagadougou (Burkina Faso), for my Ph.D. in sociology at Laval University (Canada). In fact, international charity organisations use orphans as a vulnerable and universal category. This has been done through the propagation of information on HIV. From the social sciences perspective, the category of orphans covers a variety of realities, and making the choice to see it otherwise would hide the diversity of those realities.

Order fulfillment in high variety production environments

Providing high levels of product variety and product customization is challenging for many companies. This paper presents a new classification of production and order fulfillment approaches available to manufacturing companies that offer high variety and/or product customization. Six categories of approaches are identified and described. An important emerging approach - open pipeline planning – is highlighted for high variety manufacturing environments. It allows a customer order to be fulfilled from anywhere in the system, enabling greater responsiveness in Build-to-Forecast systems. The links between the open pipeline approach, decoupling concepts and postponement strategies are discussed and the relevance of the approach to the volume automotive sector is highlighted. Results from a simulation study are presented illustrating the potential benefits when products can be reconfigured in an open pipeline system. The application of open pipeline concepts to different manufacturing domains is discussed and the operating characteristics of most relevance are highlighted. In addition to the automotive, sectors such as machinery and instrumentation, computer servers, telecommunications and electronic equipment may benefit from an open pipeline planning approach. When properly designed these systems can significantly enhance order fulfillment performance.

Effects of Organic and Inorganic Fertilizers on the Growth of NH-Ae 47-4 Variety of Okra

The paper evaluates the effects of organic and inorganic fertilizers on the growth of okra (variety NH-Ae 47-4. Organic fertilizers (cow dung and poultry droppings) and inorganic (NPK 15:15:15 and Urea 64:0) fertilizers were used for the experiment. The fertilizers were weighed and applied at 5g, 10g and 15g and were replicated three times and each having a control. Vegetative growth parameters taken include, shoot fresh weight (g), dry weight (g), plant height (cm), leaf number, stem girth (cm), leaf area (cm2). The results obtained from the experiment showed that the effect of the treatments were significantly difference from the control for all the parameters accessed with urea fertilizer having least effect. Plants treated with poultry litters have best performance by recording the highest fresh and dry weight (0.39g) at 4 weeks after planting (WAP); highest stem height 29.33cm for all the concentrations applied. Similarly, it has highest leaf area and stem girth (64.67cm2and 2.23cm respectively) at 8WAP.

Deviant behavior variety scale: Development and validation with a sample of portuguese adolescents

This study presents the development and analysis of the psychometric properties of the Deviant Behavior Variety Scale (DBVS). Participants were 861 Portuguese adolescents (54 % female), aged between 12 and 19 years old. Two alternative models were tested using Confirmatory Factor Analysis. Although both models showed good fit indexes, the two-factor model didn’t presented discriminant validity. Further results provided evidence for the factorial and the convergent validity of the single-factor structure of the DVBS, which has also shown good internal consistency. Criterion validity was evaluated through the association with related variables, such as age and school failure, as well as the scale’s ability to capture group differences, namely between genders and school retentions, and finally by comparing a sub-group of convicted adolescents with a group of non-convicted ones regarding their engagement in delinquent activities. Overall, the scale presented good psychometric properties, with results supporting that the DBVS is a valid and reliable self-reported measure to evaluate adolescents’ involvement in deviance.

Der Personenname „Mozaraber“ im Toledo des 12./13. Jahrhunderts. Prosopographische Bemerkungen zu den Trägern eines rätselhaften Namens

En este artículo utilizamos un método prosopográfico para explorar el entorno socioeconómico de las personas que eligieron el término ‘mozárabe’ como nombre personal en el Toledo altomedieval. Consciente de las particularidades de la variedad árabe andalusí, este análisis incluye asimismo grafías de fonación similar que se desvían de la forma estándar musta‘rib. En tres casos el material fuentístico permite la reconstrucción de una parte considerable de los antecedentes familiares y económicos.

Use of alternative wood chips from new botanical species. Their impact on phenolic composition and sensory properties of a white wine from Encruzado grape variety

Mestrado Vinifera Euromaster - Instituto Superior de Agronomia - UL

Prevalence of Mental Health Problems in Children and Its Associated Socio-Familial Factors in Urban Population of Semnan, Iran (2012)

Background: The World Health Organization (WHO) defines mental health as “a state of well-being in which every individual realizes own potential, can cope with the normal pressures of life, is able to work effectively, and can make a contribution to community”. Objectives: Mental Health Problems (MHP) is a great concern for all societies in terms of its burden and impact. This survey screened MHP and its impact in an Iranian urban population aged 6 - 12 years old, and explored its associated socio-familial factors. Patients and Methods: The survey was conducted in the elementary schools of Semnan, using random cluster sampling. Collection and analysis of data was performed using the parent version of the “Strengths and Difficulties Questionnaire (SDQ)” and survey commands of Stata-nine, taking into account cluster effect and population weights. Associations were assessed by fitting simple and multiple logistic regression models. P < 0.05 was considered significant. Results: With regard to the SDQ total score, 19.3% (95% CI: 8.6, 30.1) scored above the normal threshold (9.6% abnormal, 9.7% borderline). The frequency of problems ranged between 16.1% (peer problems) and 8.4% (emotional symptoms), and in all subscales boys were affected more than girls. The impact score was abnormal in 68.4% of all children, and was greater in girls than in boys. “A previously diagnosed mental health disorder” (OR = 11.11, 95% CI: 5.55, 25.00), “male gender” (OR = 1.43, 95% CI: 1.10, 1.87 and “less time spent with the child by father” (OR = 1.61, 95% CI: 1.20, 2.17) were significantly associated with an abnormal SDQ. Conclusions: The high rate of MHP in 6 - 12 year-old children and the lack of any significant correlation with their age, underpins the importance of early screening for MHP in schools, with particular focus on high risk groups.