Work in inflammatory and degenerative joint diseases

This article focuses on work disability and sick leave and their cost; it also discusses the value of vocational rehabilitation programmes in rheumatic conditions such as rheumatoid arthritis, ankylosing spondylitis, hip and knee osteoarthritis. It acknowledges the importance of work not only for the worker who has one of these diseases but also for the public purse. Much can be done to improve the health of the persons and reduce their disability and its impact in the workplace which will have an important effect on their and their family's quality of life. It is important that neither rehabilitation nor vocational rehabilitation are regarded as bolt-on activities after drug treatment but are seen as an integral part of effective management. Publications dealing with return to work are relatively common in rheumatoid arthritis, less common in ankylosing spondylitis and relatively rare in osteoarthritis. Vocational rehabilitation programmes should aim to facilitate job retention or, failing that, to improve the ability to return to work. The process must be started with in the health arena and it has to be recognised that slow or poor practice in the health service can jeopardise the patient's work potential

Burned-out but proud Portuguese family doctors

Background: Burnout syndrome (BS) is increasing among health professionals, including family doctors (FD). Aim: To characterize the prevalence of BS in a sample of FDs working in the Portuguese National Health System. Design: Cross-sectional survey. Setting: Primary Health Care Centers (HCC) from the 18 continental districts and 2 archipelagos of Portugal. Method: The Portuguese version of the Maslach Burnout Inventory - Human Services Survey (MBI - HSS) was sent to 40 randomly selected health-care centers (HCC) and distributed to the FDs employed. Sociodemographic and work-related data was also collected. Participants were classified as having high, average or low levels of emotional exhaustion (EE), depersonalization (DP) and personal accomplishment (PA) dimensions of burnout. Results: 371 questionnaires were sent, of which 153 (83 women, age range 29-64 years; response rate 41%) returned. One quarter (25.5%) of participants had high EE, 10.1% high DP and 11.4% high PA, but only 2.0% of participants scored high for all three dimensions. Women had significantly higher DP and PA scores than men; increased daily workload also led to increased PA scores. Conversely, no association was found between BS scores and age, marital status, number of years of practice or type of HCC (Family or Personalized). Conclusion: High burnout is relatively common among Portuguese family doctors, yet slightly lower than reported for other European countries. Burnout relief measures should be developed in order to prevent a further increase of BS among Portuguese FDs.

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

OBJECTIVE: To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequencing, and dosage analysis. RESULTS: We evaluated 32 individuals, of whom 6 were clinically diagnosed with DRD, with childhood-onset progressive foot dystonia, later generalizing, followed by parkinsonism in the two older patients. The response to levodopa was very good. Two additional patients had late onset dopa-responsive parkinsonism. Three other subjects had DRD symptoms on historical grounds. We found suggestive linkage to the previously reported DYT14 locus, which excluded GCH1. However, further study with more stringent criteria for disease status attribution showed linkage to a larger region, which included GCH1. No mutation was found in GCH1 by gene sequencing but dosage methods identified a novel heterozygous deletion of exons 3 to 6 of GCH1. The mutation was found in seven subjects. One of the patients with dystonia represented a phenocopy. CONCLUSIONS: This study rules out the previously reported DYT14 locus as a cause of disease, as a novel multiexonic deletion was identified in GCH1. This work highlights the necessity of an accurate clinical diagnosis in linkage studies as well as the need for appropriate allele frequencies, penetrance, and phenocopy estimates. Comprehensive sequencing and dosage analysis of known genes is recommended prior to genome-wide linkage analysis.

Understanding triadic and family group interactions during infancy and toddlerhood.

This paper outlines recent conceptual and methodological developments in the assessment of triadic and family group process during infancy and toddlerhood. Foundations of the emerging family group process are identified, and conditions specific to the assessment of the family during the early phases of family formation are summarized. Both microanalytic and global approaches to evaluating mother-father-child interactions are discussed. We highlight both similarities and differences in the strategies and methods employed by several different investigators who have been studying the group dynamics of families with infant and toddler children, and underscore several important family patterns and emerging themes that appear to be cutting across these different methods and measurement strategies. Preliminary evidence for the validity and clinical significance of family-level assessments is summarized, and directions currently being pursued by researchers engaged in studies of the family triad are outlined. We close by identifying several conceptual and clinical issues that remain to be addressed by subsequent work.

Burnout levels among Portuguese family doctors: a nationwide survey

AIM: To characterise the prevalence of burnout syndrome in a sample of family doctors (FDs) working in the Portuguese National Health System. DESIGN: Cross-sectional survey. SETTING: Primary healthcare centres from the 18 continental districts and two archipelagos of Portugal. METHOD: The Portuguese version of the Maslach Burnout Inventory-Human Services Survey was sent to 40 randomly selected healthcare centres and distributed to the FDs employed. Socio-demographic and work-related data were also collected. Participants were classified as having high, average or low levels of emotional exhaustion (EE), depersonalisation (DP) and personal accomplishment (PA) dimensions of burnout. RESULTS: 371 questionnaires were sent, of which 153 (83 women, age range 29-64 years; response rate 41%) returned. One-quarter (25.3%, 95% CI 18.6% to 33.1%) of FDs scored high for EE, 16.2% (10.7% to 23.2%) for DP and 16.7% (11.1% to 23.6%) for lack of PA. On multivariate analysis, being married, of older age, having many years of practice or working in a personalised healthcare unit tended to be associated with increased burnout components. Men tended to present higher EE and DP but lower lack of PA than women. Finally, the prevalence (95% CI) of burnout ranged between 4.1% (1.5% to 8.6%) and 32.4% (25.0% to 40.6%), depending on the definition used. CONCLUSIONS: High burnout is relatively common among Portuguese FDs. Burnout relief measures should be developed in order to prevent a further increase of burnout syndrome among Portuguese FDs.

Large-scale DNA sequencing in taxonomy and conservation : a case study with the mayfly family Heptageniidae (Ephemeroptera) in the Alps and Madagascar

Les larves aquatiques d'éphémères (Ephemeroptera) colonisent toutes les eaux douces du monde et sont couramment utilisées comme bio-indicateurs de la qualité de l'eau. Le genre Rhithrogena (Heptageniidae) est le deuxième plus diversifié chez les éphémères, et plusieurs espèces européennes ont une distribution restreinte dans des environnements alpins sensibles. Les espèces de Rhithrogena ont été classées en "groupes d'espèces" faciles à identifier. Cependant, malgré leur importance écologique et en terme de conservation, beaucoup d'espèces présentent des différences morphologiques ambiguës, suggérant que lataxonomie actuelle ne refléterait pas correctement leur diversité évolutive. De plus, aucune information sur leurs relations, leur origine, le taux de spéciation ou les mécanismes ayant provoqué leur remarquable diversification dans les Alpes n'est disponible. Nous avons d'abord examiné le statut spécifique d'environ 50% des espèces européennes de Rhithrogena en utilisant un large échantillonnage de populations alpines incluant 22 localités typiques, ainsi qu'une analyse basée sur le modèle général mixte de Yule et de coalescence (GMYC) appliqué à un gène mitochondrial standard (coxl) et à un gène nucléaire développé spécifiquement pour cette étude. Nous avons observé un regroupement significatif des séquences coxl en 31 espèces potentielles, et nos résultats ont fortement suggéré la présence d'espèces cryptiques et de fractionnements taxonomiques excessifs chez les Rhithrogena. Nos analyses phylogénétiques ont démontré la monophylie de quatre des six groupes d'espèces reconnus présents dans notre échantillonnage. La taxonomie ADN développée dans cette étude pose les bases d'une future révision de ce genre important mais cryptique en Europe. Puis nous avons mené une étude phylogénétique multi-gènes entre les espèces européennes de Rhithrogena. Les données provenant de trois gènes nucléaires et de deux gènes mitochondriaux ont été largement concordantes, et les relations entre les espèces bien résolues au sein de la plupart des groupes d'espèces dans une analyse combinant tous les gènes. En l'absence de points de calibration extérieurs tels que des fossiles, nous avons appliqué à nos données mitochondriales une horloge moléculaire standard pour les insectes, suggérant une origine des Rhithrogena alpins à la limite Oligocène / Miocène. Nos résultats ont montré le rôle prépondérant qu'ont joué les glaciations du quaternaire dans leur diversification, favorisant la spéciation d'au moins la moitié des espèces actuelle dans les Alpes. La biodiversité et le taux d'endémisme à Madagascar, notamment au niveau de la faune des eaux douces, sont parmi les plus extraordinaires et les plus menacés au monde. On pense que beaucoup d'espèces d'éphémères sont restreintes à un seul bassin versant (microendémisme) dans les zones forestières, ce qui les rendrait particulièrement sensibles à la réduction et à la dégradation de leur habitat. Mis à part deux espèces décrites, Afronurus matitensis et Compsoneuria josettae, les Heptageniidae sont pratiquement inconnus à Madagascar. Les deux genres ont une distribution discontinue en Afrique, à Madagascar et en Asie du Sud-Est, et leur taxonomie complexe est régulièrement révisée. L'approche standard pour comprendre leur diversité, leur endémisme et leur origine requerrait un échantillonnage étendu sur plusieurs continents et des années de travaux taxonomiques. Pour accélérer le processus, nous avons utilisé des collections de musées ainsi que des individus fraîchement collectés, et appliqué une approche combinant taxonomie ADN et phylogénie. L'analyses GMYC du gène coxl a délimité 14 espèces potentielles à Madagascar, dont 70% vraisemblablement microendémiques. Une analyse phylogénique incluant des espèces africaines et asiatiques portant sur deux gènes mitochondriaux et quatre gènes nucléaires a montré que les Heptageniidae malgaches sont monophylétiques et groupe frère des Compsoneuria africains. L'existence de cette lignée unique, ainsi qu'un taux élevé de microendémisme, mettent en évidence leur importance en terme de conservation. Nos résultats soulignent également le rôle important que peuvent jouer les collections de musées dans les études moléculaires et en conservation. - Aquatic nymphs of mayflies (Ephemeroptera) colonize all types of freshwaters throughout the world and are extensively used as bio-indicators of water quality. Rhithrogena (Heptageniidae) is the second most species-rich genus of mayflies, and several European species have restricted distributions in sensitive Alpine environments and therefore are of conservation interest. The European Rhithrogena species are arranged into "species groups" that are easily identifiable. However, despite their ecological and conservation importance, ambiguous morphological differences among many species suggest that the current taxonomy may not accurately reflect their evolutionary diversity. Moreover, no information about their relationships, origin, timing of speciation and mechanisms promoting their successful diversification in the Alps is available. We first examined the species status of ca. 50% of European Rhithrogena diversity using a widespread sampling scheme of Alpine species that included 22 type localities, general mixed Yule- coalescent (GMYC) model analysis of one standard mitochondrial (coxl) and one newly developed nuclear marker. We observed significant clustering of coxl into 31 GMYC species, and our results strongly suggest the presence of both cryptic diversity and taxonomic oversplitting in Rhithrogena. Phylogenetic analyses recovered four of the six recognized species groups in our samples as monophyletic. The DNA taxonomy developed here lays the groundwork for a future revision of this important but cryptic genus in Europe. Then we conducted a species-level, multiple-gene phylogenetic study of European Rhithrogena. Data from three nuclear and two mitochondrial loci were broadly congruent, and species-level relationships were well resolved within most species groups in a combined analysis. In the absence of external calibration points like fossils, we applied a standard insect molecular clock hypothesis to our mitochondrial data, suggesting an origin of Alpine Rhithrogena in the Oligocene / Miocene boundary. Our results highlighted the preponderant role that quaternary glaciations played in their diversification, promoting speciation of at least half of the current diversity in the Alps. Madagascar's biodiversity and endemism are among the most extraordinary and endangered in the world. This includes the island's freshwater biodiversity, although detailed knowledge of the diversity, endemism, and biogeographic origin of freshwater invertebrates is lacking. Many mayfly species are thought to be restricted to single river basins (microendemic species) in forested areas, making them particularly sensitive to habitat reduction and degradation. The Heptageniidae are practically unknown in Madagascar except for two described species, Afronurus matitensis and Compsoneuria josettae. Both genera have a disjunct distribution in Africa, Madagascar and Southeast Asia, and a complex taxonomic status still in flux. The standard approach to understanding their diversity, endemism, and origin would require extensive field sampling on several continents and years of taxonomic work. Here we circumvent this using museum collections and freshly collected individuals in a combined approach of DNA taxonomy and phylogeny. The cox/-based GMYC analysis revealed 14 putative species on Madagascar, 70% of which potentially microendemics. A phylogenetic analysis that included African and Asian species and data from two mitochondrial and four nuclear loci indicated the Malagasy Heptageniidae are monophyletic and sister to African Compsoneuria. The observed monophyly and high microendemism highlight their conservation importance. Our results also underline the important role that museum collections can play in molecular studies, especially in critically endangered biodiversity hotspots like Madagascar.

Wishes or Constraints? Mothers' Labour Force Participation and its Motivation in Switzerland

The aim of this article is to estimate the impact of various factors related to role conflict theory and preference theory on the reduction of women's labour force participation after their transition to parenthood. Objective and subjective dimensions of women's labour force participation are assessed. The empirical test is based on a survey of couples with children in Switzerland. Results show that compared to structural factors associated with role conflict reduction, preferences have little impact on mothers' labour force participation, but explain a good deal of their frustration if the factual situation does not correspond to their wishes. Structural factors, such as occupation, economic resources, childcare, and an urban environment, support mothers' labour force participation, whereas active networks and a home centred lifestyle preference help them to cope with frustrations.

Extreme self-monitoring, fear of hypoglycemia and obsessive-compulsive disorder in type 1 diabetes mellitus: when less is better

Background: Pre-existing psychological factors can strongly influence coping with type 1 diabetes mellitus and interfere with self-monitoring. Psychiatric disorders seem to be positively associated with poor metabolic control. We present a case of extreme compulsive blood testing due to obsessive fear of hypoglycemia in an adolescent with type 1 diabetes mellitus. Case report: Type 1 diabetes mellitus (anti GAD-antibodies 2624 U/l, norm < 9.5) was diagnosed in a boy aged 14.3 years [170 cm (+ 0.93 SDS), weight 50.5 kg (+ 0.05 SDS)]. Laboratory work-up showed no evidence for other autoimmune disease. Family and past medical history were unremarkable. Growth and developmental milestones were normal. Insulin-analog based basal-bolus regime was initiated, associated to standard diabetic education. Routine psychological evaluation performed at the onset of diabetes revealed intermittent anxiety and obsessivecompulsive traits. Accordingly, a close psychiatric follow-up was initiated for the patient and his family. An adequate metabolic control (HbA1c drop from >14 to 8%) was achieved within 3 months, attributed to residual -cell function. In the following 6 months, HbA1c rose unexpectedly despite seemingly adequate adaptations of insulin doses. Obsessive fear of hypoglycemia leading to a severe compulsive behavior developed progressively with as many as 68 glycemia measurements per day (mean over 1 week). The patient reported that he could not bear leaving home with glycemia < 15 mmol/l, ending up with school eviction and severe intra-familial conflict. Despite intensive psychiatric outpatient support, HbA1c rose rapidly to >14% with glycemia-testing reaching peaks of 120 tests/day. The situation could only be discontinued through psychiatric hospitalization with intensive behavioral training. As a result, adequate metabolic balance was restored (HbA1c value: 7.1 %) with acceptable 10-15 daily glycemia measurements. Discussion: The association of overt psychiatric disorders to type 1 diabetes mellitus is very rare in the pediatric age group. It can lead to a pathological behavior with uncontrolled diabetes. Such exceptional situations require long-term admissions with specialized psychiatric care. Slow acceptation of a "less is better" principle in glycemia testing and amelioration of metabolic control are difficult to achieve.

Gli altri noi : Rom e residenti nella Svizzera italiana : etnografia e mediazione

Cette recherche porte sur les roms (vlach) qui séjournent périodiquement en Suisse italienne, en camping-cars ou en caravanes, pratiquant un semi- nomadisme lié à des motivations principalement économiques, mais également familiales et religieuses. Elle poursuit simultanément deux objectifs. Le premier est lié à un souci de médiation culturelle, qui rejoint les réflexions sur la façon de gérer au mieux les conflits entre les diverses composantes du vivre ensemble. Le second vise à approfondir la connaissance des populations roms concernées (lovara, éurara ou kalderasa, de nationalités italienne, française et espagnole). Les deux objectifs sont évidemment reliés, car comprendre les dynamiques conflictuelles exige la connaissance approfondie des acteurs en interaction. Les relations entre résidents tessinois et roms ont évolué dans le temps, avec des oscillations entre le pôle du refus et celui de l'attraction, entre rejet et reconnaissance, méfiance et confiance. Ces variations historiques renvoient à un fondement commun, à une dynamique des oppositions réciproques. L'analyse anthropologique a fait apparaître le rôle ambivalent du conflit dans la production et la reproduction de la relation d'altérité. L'exclusion des roms fournit à certaines tendances politiques locales l'occasion d'apparaître comme les protecteurs des résidents contre les étrangers ; inversement, l'opposition des roms aux gaiés leur permet de resserrer leur communauté et de prévenir l'assimilation. La médiation culturelle peut espérer gérer cette dynamique relationnelle, certainement pas la faire disparaître. Le modèle intégratif traditionnel de l'État- nation se révèle trop étroit pour accueillir la culture rom. Casser la résistance des roms envers le travail salarié et envers la scolarisation obligatoire, entraver leur semi-nomadisme (qui incite aussi leurs rencontres familiales et religieuses), refuser de reconnaître leur organe de justice interne et leur langue, tout cela ne ferait que concourir à leur disparition culturelle. Les roms sont conscients de ces possibilités, raison pour laquelle ils maintiennent une ambivalence relationnelle avec les ga£és, quitte à apparaître comme des « tsiganes indésirables ». Abstract : This research focuses on the Roma people (Vlach) who periodically stay in Italian Switzerland in caravans or camper vans, practising a semi-nomadic lifestyle - a choice based mainly on economic imperatives but also on familial and religious grounds. This study will address two objectives at the same time. The first involves cultural mediation, and considers the best way to manage the existing conflicts between the cultural components of the social environment. The second aims to increase knowledge of the Roma populations under examination - the Italian, French and Spanish Lovara, Éurara or Kalderasa. The two objectives are clearly linked, as a deeper understanding of the people involved is vital if we are to increase understanding of the dynamics of confrontation. The relationships between the residents of the Ticino area and the Roma people have evolved over time, oscillating in varying degrees between rejection and attraction, confrontation and recognition, suspicion and trust. These variations spring from a common base, a dynamic shaped by mutual opposition. The anthropological analysis highlights the ambivalent role of conflict in the production and reproduction of relations of otherness. Excluding the Roma has given some local politicians the opportunity to position themselves as protectors of residents against foreigners. Inversely, the Roma people's opposition to the Gazé strengthens links within their community and prevents assimilation. Cultural mediation may aspire to manage this relational dynamic, but not abolish it. The traditional integrative model of the nation-state has shown itself to be too restrictive to accommodate the Romani culture. Rejecting the Roma's resistance to salaried work and obligatory schooling, obstructing their semi-nomadic lifestyle (one that also involves family and religious assemblies) and refusing to recognise their traditional courts and mother tongue, all that can only contribute to the dilution of their cultural heritage. The Roma are fully aware of these possibilities, which is why they retain a relational ambivalence in their dealings with the Gazé, at the cost of appearing to be "undesirable gypsies".