Le conseil génétique: aspects théoriques et pratique en prénatal [Genetic counselling: theoretical aspects and prenatal practice]

Le conseil génétique doit fournir aux individus une information médicale précise et un soutien psychologique. L'importance des principes d'autonomie et de confidentialité, dogmes du conseil génétique, est renforcée par la nouvelle loi suisse (LAGH). Dans certains pays, une grande partie du conseil génétique est assurée par des conseillers en génétique non médecins ayant une formation postgraduée spécifique. Le conseil génétique joue un rôle grandissant dans différents domaines de la médecine. En particulier, il est indispensable dans le contexte du prénatal où les couples reçoivent des informations complexes et doivent bénéficier d’un soutien pour prendre une décision. Genetic counselling provides families with accurate medical information and psychological support. Respect and concern for the emotional well-being should be taken into account while discussing genetics aspects and recurrence risks. The importance of autonomy and confidentiality, central to genetic counselling, is reinforced by the new Swiss law (LAGH). In many countries, most of the genetic counselling is provided by genetic counsellors who have a specialised post-graduate training. Genetic counselling plays an increasing role in different medical specialities. In particular, it is essential in the context of prenatal and pre-conceptual care, where couples are confronted to complex information and should have access to appropriate support during the decision-making process

Methadone maintenance treatment (MMT) in general practice or in specialized centers: profile of patients in the Swiss Canton of Vaud.

We studied profile of patients (n=1782) treated in specialized centers and general practice (GP) enrolled in methadone maintenance treatment (MMT) programs during 2001 in the Swiss Canton of Vaud. We found that GPs treated the majority of patients (76%). Specialized centers treated a higher proportion of patients with uncontrolled intravenous use of cocaine and heroin, and prescribed neuroleptics as concomitant medication three times more frequently than GPs. Patients treated in specialized centers were more likely to undergo screening for HIV, HBV, HCV, and receive complete HBV immunization. In conclusion, specialized centers are more likely to treat severely addicted patients and patients with a poor global assessment (physical, psychiatric, and social).

Swiss clinical practice guidelines on field cancerization of the skin.

Actinic keratosis (AK) affects millions of people worldwide, and its prevalence continues to increase. AK lesions are caused by chronic ultraviolet radiation exposure, and the presence of two or more AK lesions along with photodamage should raise the consideration of a diagnosis of field cancerization. Effective treatment of individual lesions as well as field cancerization is essential for good long-term outcomes. The Swiss Registry of Actinic Keratosis Treatment (REAKT) Working Group has developed clinical practice guidelines for the treatment of field cancerization in patients who present with AK. These guidelines are intended to serve as a resource for physicians as to the most appropriate treatment and management of AK and field cancerization based on current evidence and the combined practical experience of the authors. Treatment of AK and field cancerization should be driven by consideration of relevant patient, disease, and treatment factors, and appropriate treatment decisions will differ from patient to patient. Prevention measures and screening recommendations are discussed, and special considerations related to management of immunocompromised patients are provided.

The gap between scientific evidence and clinical practice : 5-aminosalicylates are frequently used for the treatment of Crohn's disease

BACKGROUND: There is uncertain evidence of effectiveness of 5-aminosalicylates (5-ASA) to induce and maintain response and remission of active Crohn's disease (CD), and weak evidence to support their use in post-operative CD. AIM: To assess the frequency and determinants of 5-ASA use in CD patients and to evaluate the physicians' perception of clinical response and side effects to 5-ASA. METHODS: Data from the Swiss Inflammatory Bowel Disease Cohort, which collects data since 2006 on a large sample of IBD patients, were analysed. Information from questionnaires regarding utilisation of treatments and perception of response to 5-ASA were evaluated. Logistic regression modelling was performed to identify factors associated with 5-ASA use. RESULTS: Of 1420 CD patients, 835 (59%) were ever treated with 5-ASA from diagnosis to latest follow-up. Disease duration >10 years and colonic location were both significantly associated with 5-ASA use. 5-ASA treatment was judged to be successful in 46% (378/825) of treatment episodes (physician global assessment). Side effects prompting stop of therapy were found in 12% (98/825) episodes in which 5-ASA had been stopped. CONCLUSIONS: 5-Aminosalicylates were frequently prescribed in patients with Crohn's disease in the Swiss IBD cohort. This observation stands in contrast to the scientific evidence demonstrating a very limited role of 5-ASA compounds in the treatment of Crohn's disease.

Cardiac CT: practical approach to integrate appropriate indications in daily practice.

Recent advances in CT technologies had significantly improved the clinical utility of cardiac CT. Major efforts have been made to optimize the image quality, standardize protocols and limit the radiation exposure. Rapid progress in post-processing tools dedicated not only to the coronary artery assessment but also to the cardiac cavities, valves and veins extended applications of cardiac CT. This potential might be however used optimally considering the current appropriate indications for use as well as the current technical imitations. Coronary artery disease and related ischemic cardiomyopathy remain the major applications of cardiac CT and at the same time the most complex one. Integration of a specific knowledge is mandatory for optimal use in this area for asymptomatic as for symptomatic patients, with a specific regards to patient with acute chest pain. This review aimed to propose a practical approach to implement appropriate indications in our routine practice. Emerging indications and future direction are also discussed. Adequate preparation of the patient, training of physicians, and the multidisciplinary interaction between actors are the key of successful implementation of cardiac CT in daily practice.

Radiosensibilité individuelle : les tests vont changer nos pratiques [Intrinsic radiosensitivity: predictive assays that will change the daily practice].

The impact of curative radiotherapy depends mainly on the total dose delivered homogenously in the targeted volume. Nevertheless, the dose delivered to the surrounding healthy tissues may reduce the therapeutic ratio of many radiation treatments. In a same population treated in one center with the same technique, it appears that individual radiosensitivity clearly exists, namely in terms of late side effects that are in principle non-reversible. This review details the different radiobiological approaches that have been developed to better understand the mechanisms of radiation-induced late effects. We also present the possibilities of clinical use of predictive assays in the close future.

Plaisir et souffrance au travail : une lecture psychodynamique au sein d'un office régional de placement suisse

En Suisse, comme dans la plupart des pays industrialisés, le stress au travail et l'épuisement qui en découle sont devenus, au cours des dernières décennies, une réalité qui ne cesse de s'accentuer. Différentes disciplines scientifiques ont tenté de rendre compte, depuis le milieu du siècle dernier, des difficultés rencontrées par les individus dans le cadre de leur travail, avec une prédominance marquée pour des analyses de type causaliste. Dans le cadre de cette étude doctorale, nous nous sommes penché sur le cas d'un office régional de placement, mais avec une perspective sensiblement différente. La grille de lecture psychodynamique utilisée permet en effet de donner accès au sens des situations de travail et d'ouvrir sur une compréhension originale des mécanismes à l'origine des problèmes de santé mentale au travail. Cette approche permet ainsi de comprendre les rapports complexes que les individus entretiennent avec leur travail tel que structuré et organisé, et d'analyser leur expérience en termes de plaisir, de souffrance, de défenses face à la souffrance et de répercussions sur la santé. Dans ce but, nous avons utilisé une méthodologie basée sur des entrevues collectives, afin de stimuler l'expression libre des travailleurs. L'enquête s'est déroulée en deux temps : une première série d'entretiens de groupe a permis la récolte des données empiriques, puis une seconde série, appelée entretiens de restitution, a donné la possibilité aux participants de réagir sur l'interprétation de leur parole faite par le chercheur, et de valider l'analyse. Nos résultats mettent alors en évidence que le travail, tel qu'organisé au sein de cette institution de service public, apparaît considérablement pathogène, mais heureusement compensé par le pouvoir structurant de la relation d'aide aux assurés. Ils montrent également que l'expérience subjective de travail des participants a pour principales sources de souffrance la perception désagréable d'un manque de reconnaissance, d'autonomie et de pouvoir sur leurs actes. - In Switzerland and in other industrialized countries, work-related stress and resulting burn-out has become an ever increasing problem in recent decades. Many researchers Jrom many different fields have made efforts to understand the difficulties employees encounter at work since the middle of the last century. Most of this research is based on a cause and effect analysis approach. For this doctoral research project, we have analyzed cases handled by an unemployment office in Switzerland. We have taken a novel approach by using a number of psychodynamic criteria which permitted us to interpret situations at work and to open up a new way of understanding the mechanisms at work which lead to mental health problems. This approach allows us to understand account the complex relationship people have towards structured and organized work as well as to take into account and to analyze their experience in terms of pleasure, suffering, defense mechanisms against suffering and the consequences on their mental health. In order to achieve this goal we performed collective interviews in order to encourage workers to express themselves freely. The interviews were divided into two series. The first series of group interviews allowed us to collect empirical statistics and the second series gave the workers an opportunity to react to the researchers ' analysis of their answers and to validate the researchers ' interpretation of their answers. Our results show that work has considerable negative effects on mental health. Fortunately, these negative effects are counterbalanced by the psychological support system offered by the unemployment office. Our project also shows that the subjective negative experiences of workers are caused by their perceptions of being under-appreciated, lack of autonomy and having no power over their acts.

U.S. National Parks and "The Tragedy of the Commons" : A contribution to the characterization of U.S. mountain guides' professional practice

This paper aims at presenting the stakes related to the access to protected land in the United States and to its conservation, through the analysis of the professional practice of U.S. mountain guides. From a methodological standpoint, this research is based both on a theoretical analysis grounded in the field of environmental economics and on an empirical study. The authors' starting point is Garrett Hardin's paper, "The Tragedy of the Commons" (Science, 1968), even if it introduces some confusion on the notion of common goods. So as to avoid this confusion, the authors use two theoretical tools pertaining to a typology of common goods and the different property rights that can be applied in National Parks. Finally, they apply this framework to the observations made on the field in Colorado in July 2009.

Electronic monitoring of compliance to lipid-lowering therapy in clinical practice

Nonadherence to treatment is a common problem in the clinical management of hypercholesterolemic patients. This study was carried out with the aim of monitoring the daily compliance to a 6-month course of lipid-lowering therapy, using a microelectronic device, the Medication Event Monitoring System (MEMS), versus pill count. Forty men with primary hypercholesterolemia were prescribed fluvastatin 1 x 40 mg daily, provided in a MEMS package to record the date and time of each opening of the pillbox. Thirty-nine of 40 patients (98%) completed the study. Total cholesterol and LDL cholesterol levels decreased significantly (18% and 25%, p < 0.001) during the 6-month therapy period. A high mean rate of compliance was achieved by MEMS using the following three indexes--compliance to total prescribed dose (88.8% +/- 13.5%), compliance to prescribed days (82.4% +/- 19.5%), and compliance to prescribed time of day (81.86% +/- 19.5%)--and by pill count (93.4% +/- 9.5%). In addition, the MEMS provided some patterns of nonadherence to medication, undetectable by pill count alone, such as a drug holiday in 38% of cases, a drug omission for more than 7 consecutive days in 9% of cases, and, conversely, use of more than the one prescribed daily dose in 47% of cases. A significant correlation between the rate of compliance and the decrease in LDL cholesterol was observed only when the compliance was assessed by MEMS. The results indicate that MEMS is a useful tool for monitoring compliance in clinical practice and may possibly increase adherence to long-term lipid-lowering therapy.

Adaptations des recommandations pour la pratique clinique: l'exemple du Programme cantonal Diabète de Vaud [Adaptation of clinical practice guidelines--the example of cantonal Diabetes Program].

With the growing number of scientific publications, practitioners can use scientific knowledge synthesis, including Clinical Practice Guidelines (CPG). The practical use of a CPG implies considering the context, that is the local healthcare system and the patient. Thus, the CPG can never replace the expertise of the practitioner! Diabetes is a wide public health issue and the canton of Vaud established the cantonal Diabetes Program (cDP), to optimize the care of diabetic patients. The cDP has many projects including the adaptation of reliable CPG to local needs. We present the pros and cons of the CPG in the cDP and the methods to adapt it to the regional healthcare context, and also at an individual level.