Diversity of ARSACS mutations in French-Canadians.

BACKGROUND: The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two known SACS mutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype variability. METHODS: Search for SACS mutations by combining various methods on 20 cases with a classical French-Canadian ARSACS phenotype without two mutations and a group of 104 sporadic or recessive spastic ataxia cases of unknown cause. Western blot on lymphoblast protein from cases with different genotypes was probed to establish if they still expressed sacsin. RESULTS: A total of 12 mutations, including 7 novels, were uncovered in Quebec ARSACS cases. The screening of 104 spastic ataxia cases of unknown cause for 98 SACS mutations did not uncover carriers of two mutations. Compounds heterozygotes for one missense SACS mutation were found to minimally express sacsin. CONCLUSIONS: The large number of SACS mutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population. Most mutations lead to loss of function, though phenotypic variability in other populations may reflect partial loss of function with preservation of some sacsin expression. Our results also highlight the challenge of SACS mutation screening and the necessity to develop new generation sequencing methods to ensure low cost complete gene sequencing.

Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.

Mutations in senataxin have been described recently in 24 cases of French-Canadian descent with ataxia-oculomotor apraxia 2. This recessive ataxia is associated with an elevation in alpha-fetoprotein as in ataxia-telangiectasia. Because ataxia-telangiectasia cells are highly radiosensitive, we used a colony survival assay to measure the radiosensitivity of lymphoblastoid cell lines derived from five French-Canadian patients with ataxia-oculomotor apraxia 2. Two were homozygous for the common French-Canadian L1976R SETX missense mutation; the three others were compound heterozygotes for the common mutation and three different missense mutations. Overall, lymphoblastoid cell lines derived from these cases did not show significant variation from a normal response to 1 Gray of ionizing radiation but the two patients who were homozygous for the common L1976R mutation fell in the intermediate or non-diagnostic range.

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

Congenital muscular dystrophies (CMDS) are a heterogeneous group of disorders. A growing number of CMDS have been found to be associated with joint hyperlaxity. We recruited 14 French-Canadian cases belonging to 11 families affected by a novel autosomal recessive congenital muscular dystrophy with hyperlaxity (CMDH). All cases come from the southwestern part of Quebec, suggesting a new French-Canadian founder effect. All patients present muscle weakness, proximal contractures coexisting with distal joint hyperlaxity. Pathological and genetic studies have excluded that mutations in the three genes coding for collagen VI subunits are responsible for this disease. A genome-wide scan established linkage of two CMDH families to a region on chromosome 3p23-21. Further linkage analysis confirmed that all families are linked to the same region (log of the odds score of 5.3). Haplotype analysis defines a 1.6-cM candidate interval and suggests that two common mutations may account for 78% of carrier chromosomes. This study describes and maps a new form of recessive CMD with joint hyperlaxity distinct from Ullrich and Bethlem myopathies with a founder effect in the French-Canadian population.

[Obstacles to university studies: the point of view of Quebec nurses]. / Obstacles à la poursuite des études au niveau universitaire: perception des infirmières du Québec.

This research project aimed at identifying obstacles that prevent nurses from taking university courses. Through a random stratified sampling method, we selected 2,063 persons among the 22,494 French speaking nurses of Quebec who worked as nurses and did not take any courses beyond their professional training at the CEGEP level or at the hospital. A 50 statement questionnaire was mailed out and 1,197 questionnaires were returned and reviewed. The ten most important statements were considered under three main themes: lack of time, lack of interest and strenuous working conditions. Statements relating to lack of time and working conditions were dependent upon (X2, p less than .05) the nurses' situation, i.e. employment status, marital status, number of children and age. Theoretical and practical advice are given to interested nurses.

[The development of a research program based on a conceptual model for the discipline of nursing]. / Développement d'un programme de recherche basé sur une conception de la discipline infirmière.

The purpose of this article was to illustrate the development of a team's research program based on a conceptual model for the nursing discipline: Roy's Adaptation Model. The ongoing research program includes studies of psychosocial factors, theoretically known for their potential for explaining health. Four groups of people are the focus of these studies: aged spouses in the community, family caregivers of ill elderly people, family caregivers of mentally ill people, and nurses as professional caregivers for elderly people in institutions. The studies are articulated using the three-level structure proposed by Fawcett & Downs (1986) and Fawcett (1991): conceptual-theoretical-empirical. This research program aims to renew understanding of the person's adaptation processes to various environmental stimuli, adaptive responses that influence health, and nursing interventions that promote health (i.e., biopsychosocial integrity). In order to specify the research variables and relations to be studied between these variables in the first phase of the program, each research project is also guided by a middle-range theory compatible with Roy's Adaptation Model. Elaborated within related disciplines, these theories are variations of the Stress and Coping theory of Lazarus & Folkman (1984). The results of these studies will be compared and articulated in a model that integrates the patterns of relations between the variables. The resulting empirical model together with Roy's conceptual model will be used to guide the development of nursing interventions intended to promote adaptive responses and biopsychosocial integrity. The second phase of the research program includes the implementation and evaluation of nursing strategies that promote adaptation among the four groups of people. This research program is a nursing contribution to certain social issues recognized as priorities by the governments of Canada and Québec. This article is an illustration of one of the various ways of developing nursing knowledge.

Psychosocial determinants of burnout in geriatric nursing.

The purpose of this study was to identify determinants of burnout using an adapted version of Kobasa's theoretical framework, considering work stressors, work support, coping strategies and hardiness. Data were collected through a questionnaire mailed to 1990 randomly selected geriatric nurses. A participation rate of 77.6% was achieved. T-test, variance analysis and multiple regression analysis were conducted. Hierarchical multiple regression analysis indicated that 49% of the variance was explained by the study variables. Hardiness and work stressors were the most important predictors of burnout. The findings are discussed in relation to Kobasa's framework, focusing on resources that reduce negative effects of geriatric work stressors. Implications for nursing practice, management, education and research are proposed.

Empirical testing of a longitudinal model derived from the Roy adaptation model.

This article presents the steps and results of the empirical testing of a theoretical longitudinal model, derived from Roy's nursing conceptual model, of the psychosocial determinants of adaptation in different target groups. The model was elaborated and empirically verified based on the integrated results of four longitudinal studies involving groups vulnerable to mental health problems. By means of structural equation analyses, the cross-sectional model was verified at two points in time. The results showed that the model was relatively stable over time. The model was also tested using longitudinal data. Results showed little consistency in the patterns of relationships across studies. The significant links that emerged from the analyses shed some light on the complexity of the process of adaptation to different types of stressors. They underscore the importance for nursing practice to develop interventions aimed at certain variables: perceived stress, conflicts in the exchange of support, and passive and avoidance coping strategies. The results also highlight the importance of the relationship between perceived stress, passive/avoidance coping strategies and psychological distress.

Empirical verification of a theoretical model derived from the Roy adaptation model: findings from five studies.

This article presents a theoretical model derived from the Roy adaptation model and the findings of an empirical verification of this model from five studies. Four groups of subjects were included in the studies: informal caregivers of demented relatives at home, informal caregivers of psychiatrically ill relatives at home, professional caregivers of elderly institutionalized patients, and aged spouses in the community. In at least three studies, a number of theoretical propositions derived from the Roy adaptation model were supported using LISREL VIII, thus adding credence to some tenets of Roy's model. Particularly, the focal stimulus of perceived stress, the contextual stimulus of conflicts in the exchange of social support, and one component of the coping mechanisms (the passive/avoidance coping strategies) were positively linked directly or indirectly with psychological distress, which is an indicator of adaptation in the self-concept mode. Given their importance, these elements should be considered in the development of a middle-range theory of psychological adaptation derived from the Roy adaptation model.

[Professional self concept]. / Le concept de soi professionnel.

With health care restructuring, nurses must constantly adapt to a changing work environment. Over time, these profound and sustained changes create a prolonged state of stress that can be detrimental to their health. Nurses who view themselves positively on a professional level seem to be better able to adapt to many changing work requirements. This professional self-concept seems to influence not only the nurse's capacity to adapt to these many work requirements, but also influences his or her health in the workplace. In this article, the authors undertake a critical analysis of the literature that enables them to highlight the main attributes of nurses' professional self-concept.

[Resources for preventing professional burnout]. / Ressources pour contrer l'épuisement professionnel.

Burnout in the nursing profession has been reported in the literature for the past decade. Yet few studies have identified the causative factors or the recommended resources for prevention and treatment. An exhaustive literature review by the authors produced over 300 articles--40 of which were selected and systematically analyzed. It became apparent that the contributing factors to nursing burnout include stressors relating to the nurse's role, tasks and interpersonal conflicts, and in particular, the lack of management and peer support. The nurse's susceptibility to burnout varied considerably and was dependent upon individual character traits such as hardiness. Hardy individuals demonstrated an ability to deal with life through qualities such as their ability to manage change; their sense of commitment, and their sense of control over their lives. According to the literature, these individuals are less susceptible to burnout manifestations. The article also identifies potential resources available to nurses and positive factors that could improve their adaptation to stressful situations or environments. In light of dwindling financial resources and increased nursing responsibilities, the authors advise steering nurses in a direction that will unite them with their peers, management, and their profession.

[Systems for the delivery of health care]. / Les systèmes de prestation des soins.

Re-examining the role of the nurse, the authors remind us of the importance of understanding how our system of health care has evolved, as well as what it holds for the future. Presenting an historical overview of the past 50 years, they discuss concepts related to moving the profession forward and suggest the decade ahead offers key opportunities.

[Health professionals in part-time employment: the challenge of balancing work and family]. / Professionnelles de la santé en précarité d'emploi: le défi de la conciliation travail-famille.

Looking at the case of occasional part-time nurses, this study highlights the difficulties in balancing work and family that are inherent in nonstandard jobs. Eight focus groups were held, involving 48 nurses in 4 regions of Quebec. Analysis of the data collected reveals that nurses "on call" are particularly affected by overwork and experience great difficulty in balancing their work and family obligations. The participants proposed a variety of solutions, such as establishing day care centres adapted to the needs of nurses on call and instituting a timetable grid for occasional part-time nurses so that they can plan their work hours.

[Validation of a model of psychosocial determinants of occupational health of geriatric nurses]. / Validation d'un modèle de déterminants psychosociaux de la santé au travail de l'infirmière en gériatrie.

The purpose of this study was to verify a model of relationships between psychosocial factors and health for 8066 francophone nurses working in geriatric care in Québec. A random sample of 1990 subjects was drawn and a participation rate of 77.9% and 55% was obtained for the two-time study taken twelve months apart. Based on the theory of Maddi and Kobasa (1984), the model was reproduced for the two-time periods with the aid of structural equations. The analyses showed that three variables exert a direct influence on psychological distress: professional burnout, occupational stressors and hardiness. Also, variables have a direct effect on burnout: listed in order of importance, these are hardiness, occupational stressors, work support, active strategies of coping and employment status. In dealing with the work stressors, the nurses who are hardy make use of active strategies of coping and look for support form their colleagues. The results of the study help to better understand the psychological and social resources that best favor adaptation of working women in highly demanding work environments. The fallout of the study converges towards the quality of life of helping professionals and towards the cost and quality of health and social services.

[Hardiness, coping and quality of life of nurses working in intensive care units]. / Hardiesse, stratégie de coping et qualité de vie au travail d'infirmières de réanimation.

The goals of the study are two-folds: on the one hand, to examine the relations between hardiness, coping strategies and quality of life at work of french nurses working in the intensive care units; on the other hand, to examine the mediating effect of coping strategies between hardiness and quality of life at work. Data was collected using a self-administered questionnaire, anonymously filled by 137 nurses which represented 60% participation from the initial sample population. Maddi & Kobasa's theory (1984) of Hardiness is the foundation for the present study and Baron & Kenny's statistical model (1986) was used to determine the mediating effect of the coping strategies. Regression analysis demonstrated that positive reevaluation/problem solving strategies had a mediating effect between a sense of commitment, a sense of mastery and quality of life at work. These results prompted various propositions in order to improve nurses quality of life at work.

Adaptation: a concept analysis.

The concept of adaptation is historically evident in nursing practice. Florence Nightingale showed how the environment required adaptation to meet the needs of the patient. Following her lead, several nurse theorists developed models with examples of the concept of adaptation: the nurse either adapts to the patient's needs, works to help the patient adapt to the environment, or adapts the environment to the needs of the patient. Sr. Callista Roy's Adaptation Model of Nursing is one such nursing model. Although this model has been applied in many clinical and administrative areas, the use of the concept in a school setting with special-need's student requires additional definition and clarification. The goal of this concept analysis paper is to clarify and explore the definition of adaptation in the school setting with application to an Individualized Healthcare Plan (IHP).

[Work environment at a university hospital: perception of nurses]. / El ambiente del entorno de trabajo en un hospital universitario: percepción de las enfermeras.

Knowledge of the work climate is important in all organizations since the this climate can either contribute to or limit the development and sense of fulfillment of those working within the workplace. The aim of this study was to describe the nurses' perception of the working environment in a university hospital. Two-hundred and thirteen nurses completed a self-administered questionnaire which included the Work Environment Scale (WES) translated to Spanish. The nurses perceived that involvement and cohesion among colleagues was high. The support of the supervisor as well as the autonomy given to nurses in their work was considered moderate. The nurses also highlighted organizational aspects, i.e. planning and efficiency at work and the clarity of what was expected of them in their daily activities. The perception of the work environment differed among the various nursing units. In general, nurses with the fewest years of professional experience perceived the work environment more positively. This study has enabled the determination of a work environment profile of a group of nurses in a university hospital. Moreover, guidance is offered to nurse managers of the nursing units on the positive aspects of the work environment which should be reinforced and on the negative aspects which should be modified in order to create an optimal work environment.