Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

BACKGROUND: Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this study we estimate the proportion of these individuals within the general population, via the analyses of data from whole-genome sequencing. METHODOLOGY/PRINCIPAL FINDINGS: We screened complete and high-quality genome sequences from 46 control individuals from various world populations for HRD mutations, using bioinformatic tools developed in-house. All mutations detected in silico were validated by Sanger sequencing. We identified clear-cut, null recessive HRD mutations in 10 out of the 46 unaffected individuals analyzed (∼22%). CONCLUSIONS/SIGNIFICANCE: Based on our data, approximately one in 4-5 individuals from the general population may be a carrier of null mutations that are responsible for HRD. This would be the highest mutation carrier frequency so far measured for a class of Mendelian disorders, especially considering that missenses and other forms of pathogenic changes were not included in our assessment. Among other things, our results indicate that the risk for a consanguineous couple of generating a child with a blinding disease is particularly high, compared to other genetic conditions.

Facteurs et stratégies favorisant la préservation de la santé chez les ambulanciers

Cette étude s'est déroulée en Romandie en 2008-2009 et visait à connaître les stratégies de préservation de la santé chez les ambulanciers. Nous avons passé 416 heures à observer des ambulanciers travailler. Les stratégies observées touchent le travail d'équipe, l'organisation, la charge physique, etc. Un questionnaire a été envoyé à tous les ambulanciers en Romandie. Les ambulanciers sont nombreux à avoir des symptômes au dos et à avoir un score élevé pour le GHQ-12 (risque de trouble psychique). Des associations ont été observées entre certains symptômes et la fréquence et le type d'intervention, le ratio efforts-récompenses et certains aspects organisationnels.

Organisation des secours extrahospitaliers lors du sommet 2003 du G8: nouveau concept de poste médical mobile (PMM) [Prehospital medical care organization during the 2003 G8 summit: a new concept of Mobile Medical Squadrons (MMS)].

OBJECTIVE: The occurrence of the 2003 G8 summit in Evian and the threat of major civil riots or even terrorist attacks in the Swiss neighbourhood forced us to imagine a new system of rescue and medical care in case of numerous victims. Previous occurrences of the G8 in Europe or America have demonstrated the need of flexible and mobile structures, able to respond quickly to crowd movements, unlike the usual static structure of rescue systems designed for major accidents. METHODS: We developed a new concept of Mobile Medical Squadrons (MMS) consisting of several vehicles and medical care and rescue human resources. In our concept, each MMS consisted of 3 emergency doctors, 5 paramedics and 9 first-aid workers. They were designed to handle 15 patients, with a large autonomy in terms of rescue, medical care, evacuation and medical authority. The equipment included medical, resuscitation, simple decontamination, evacuation and communication materials. RESULTS: The MMS were dispatched four times during the G8 summit following civil riots. They took care of 12 injured patients. CONCLUSION: The concept of MMS as a reinforcement of the existing rescue and health care resources appears as a new flexible, a modular and useful concept for the medical management of collective prehospital emergency situations. Its use is suggested instead of the traditional static concept of rescue systems designed for major accidents.

Division de l'attention lors d'interventions d'urgence préhospitalière : quelques apports de l'analyse d'activité en situation réelle de travail

Problème : Les ambulanciers effectuent souvent des tâches en contexte de division de l'attention. Cette caractéristique du travail peut contribuer à augmenter les risques d'erreurs ou ralentir le déroulement des interventions. Dans les situations d'urgences préhospitalières, cela peut avoir des conséquences dramatiques pour le patient et pour les intervenants. Méthode : Nous avons analysé l'activité réelle de travail d'ambulanciers en contexte d'intervention d'urgences. Notre démarche a impliqué l'accompagnement d'ambulanciers lors d'interventions réelles qu'il nous a été possible de filmer. Les analyses effectuées par une équipe multidisciplinaire ont de plus été complétées et validées par des séances en auto-confrontation. Résultats : Nos analyses ont permis de constater plusieurs exemples de travail en contexte de division de l'attention. De plus, nous avons aussi été en mesure de documenter certaines stratégies mises en oeuvre par ces professionnels afin de diminuer la charge cognitive attribuable à la division de l'attention. Conclusion : Notre étude pilote a permis de mieux comprendre le travail des ambulanciers. Nous avons constaté que la division de l'attention est fréquente et que les professionnels confrontés à cette exigence développent diverses stratégies pour y faire face. Nous avons aussi montré la faisabilité et la pertinence de l'analyse de l'activité réelle de travail lors d'interventions d'urgences préhospitalières. [Auteurs]

Trouver un sens à son activité professionnelle : un aspect important de la santé au travail pour les ambulanciers

Le thème de la santé mentale des intervenants de l'Aide Médicale Urgente est particulièrement important. Le sens que revêt le travail pour ces professionnels semble central pour comprendre les motivations qui permettent aux personnes de gérer des situations à forte composante relationnelle. Comment faire pour éviter la perte de sens au travail ou la retrouver ? Une étude réalisée de suisse auprès de paramédics apporte quelques pistes de réflexion. Il convient de rappeler que les ambulanciers français ne disposent pas de la même formation que les ambulanciers suisses, paramédics. [Auteurs]

Record keeping by Swiss physiotherapists--a national survey of knowledge regarding legal requirements.

A national survey conducted in Switzerland aimed to evaluate the knowledge of physiotherapists regarding the legal requirements for record keeping and to collect their feedback about record keeping in general. Three physiotherapists from various professional practice groups and a lawyer specialised in health law developed a questionnaire that was sent to the 7,753 members of two existing national associations of physiotherapists. The questionnaire evaluated the participants' knowledge by calculating a score of legal knowledge, which had a maximum of 30 points. We included 825 questionnaires in the analysis. The large majority (83.4%) of participants confessed an ignorance of the legal requirements concerning record keeping prior to the survey. The average score of legal compatibility was 8 points. The younger age of the physiotherapists was a significant predictor of having knowledge of the legal requirements for record keeping (p <0.001). The participants had an appreciation of the value of records, but they did not have the relevant knowledge regarding the legal requirements for keeping records. The participants blamed a lack of time and remuneration for their failure to keep records according to known requirements. All practising allied health professionals should keep up-to-date and accurate records that conform to active legal requirements and existing international guidelines. In addition to the existing legal requirements, the emergence of e-health and the electronic era will trigger major changes in patient record management by physiotherapists.

Literature review on advance care planning of nursing home residents

Aim: Conduct a search and analytic review of literature regarding attributes of Advance Care Planning (ACP) and Advance Directive in order to identify the experiences and the best care strategies for older adults resident in nursing homes or long term institutions. Methodology: An extensive electronic search was undertaken in the following databases: Pubmed (via Ovid search), Cumulative Index of Nursing and Allied Health (CINAHL, via EBHOST), psychINFO and Cochrane. After analyzing and eliminating duplicates and professional's point of view (19), 144 titles were considered relevant: 28 opinion papers, 94 descriptive/qualitative studies or predictive studies, 17 experimental and five systematic reviews. Most of them were produced in North America and only 10 were in French. Results: With regard to European experiences, studies are scarce and further research could benefit from North American evidence. Contrary to Europe, nurses in North America play a major role in the process of care planning. The major findings were related to the poor efficacy of the completion of Advance Directives, even in presence of a substantial variety of implementation strategies. The evidence supports interventions that conceptualize ACP as a process, with an emphasis on the ascertainment of patients' values and beliefs and the necessity to include the family or loved ones from the beginning of the process in order to favor the expression and sharing of one's life perspectives and priorities in care. The most relevant findings were associated with the conceptualization of the ACP as a change in health behaviors which needs an involvement in different stages to overcome a variety of barriers. Conclusion: Rigorous research in ACP for the older adults in Swiss nursing homes that promote respect and dignity in this frail population is needed. How to best achieve patients and families goals should be the focus of nursing intervention and research in this domain.

Predictors of developmental dyslexia in European orthographies with varying complexity.

Background:  The relationship between phoneme awareness, rapid automatized naming (RAN), verbal short-term/working memory (ST/WM) and diagnostic category is investigated in control and dyslexic children, and the extent to which this depends on orthographic complexity. Methods:  General cognitive, phonological and literacy skills were tested in 1,138 control and 1,114 dyslexic children speaking six different languages spanning a large range of orthographic complexity (Finnish, Hungarian, German, Dutch, French, English). Results:  Phoneme deletion and RAN were strong concurrent predictors of developmental dyslexia, while verbal ST/WM and general verbal abilities played a comparatively minor role. In logistic regression models, more participants were classified correctly when orthography was more complex. The impact of phoneme deletion and RAN-digits was stronger in complex than in less complex orthographies. Conclusions:  Findings are largely consistent with the literature on predictors of dyslexia and literacy skills, while uniquely demonstrating how orthographic complexity exacerbates some symptoms of dyslexia.

Multi-level modeling of aspects associated with poor mental health in a sample of prehospital emergency professionals.

BACKGROUND: The goal of this paper is to investigate the respective influence of work characteristics, the effort-reward ratio, and overcommitment on the poor mental health of out-of-hospital care providers. METHODS: 333 out-of-hospital care providers answered a questionnaire that included queries on mental health (GHQ-12), demographics, health-related information and work characteristics, questions from the Effort-Reward Imbalance Questionnaire, and items about overcommitment. A two-level multiple regression was performed between mental health (the dependent variable) and the effort-reward ratio, the overcommitment score, weekly number of interventions, percentage of non-prehospital transport of patients out of total missions, gender, and age. Participants were first-level units, and ambulance services were second-level units. We also shadowed ambulance personnel for a total of 416 hr. RESULTS: With cutoff points of 2/3 and 3/4 positive answers on the GHQ-12, the percentages of potential cases with poor mental health were 20% and 15%, respectively. The effort-reward ratio was associated with poor mental health (P < 0.001), irrespective of age or gender. Overcommitment was associated with poor mental health; this association was stronger in women (β = 0.054) than in men (β = 0.020). The percentage of prehospital missions out of total missions was only associated with poor mental health at the individual level. CONCLUSIONS: Emergency medical services should pay attention to the way employees perceive their efforts and the rewarding aspects of their work: an imbalance of those aspects is associated with poor mental health. Low perceived esteem appeared particularly associated with poor mental health. This suggests that supervisors of emergency medical services should enhance the value of their employees' work. Employees with overcommitment should also receive appropriate consideration. Preventive measures should target individual perceptions of effort and reward in order to improve mental health in prehospital care providers.

Les professions de la santé: guide des formations

[Table des matières] I. Formations de base : Aide-soignant - Ambulancier - Diététicien - Ergothérapeute - Hygiéniste dentaire - Infirmier niveau I; niveau II - Laborantin medical - Pédicure ; podologue - Physiothérapeute - Sage-femme - Technicien en radiologie médicale - Technicien en salle d'opération - Assistant social. II. Formations continues : Ambulancier - Ergothérapeutes - Centre romand d'éducation permanente, Association suisse des infirmières - Laborantin médical - Formation continue en physiothérapie- Technicien en radiologie médicale, Contrôle de qualité en radiodiagnostic - Technicien en radiologie médicale, Formation continue en radioprotection et technique radiologique - Laborantin médical - Programme du service de formation continue du CHUV - Activités de formation continue du centre de formation H+ - Introduction à l'éthique en psychiatrie. III. Formations complémentaires : ESEI - Les activités de formation complémentaire du centre de formation H+ - Infirmier, Formation complémentaire de clinicien niveau I - Infirmier, Formation complémentaire en anesthésie - Infirmier, Formation complémentaire en soins intensifs - Infirmier, Formation complémentaire en salle d'opération - Laborantin médical, Formation supérieure et de cadres - Laborantin médical, Formation complémentaire spécialisée cytotechnicien - Assistant social - Formation de physiothérapeute enseignant. IV. Formations universitaires : Séminaire de gestion hospitalière - Bioéthique - Diplôme en économie et administration de la santé - Management des Institutions de santé - Ingéniérie biomédicale - Certificat en nutrition humaine - Cours postgrade de santé au travail.