Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system

Fibromyalgia (FM) is a highly disabling syndrome defined by a low pain threshold and a permanent state of pain. The mechanisms explaining this complex disorder remain unclear, and its genetic factors have not yet been identified. With the aim of elucidating FM genetic susceptibility factors, we selected 313 FM cases having low comorbidities, and we genotyped them on the Illumina 1 million duo array. Genotypic data from 220 control women (Illumina 610k array) was obtained for genome-wide association scan (GWAS) analysis. Copy number variants in FM susceptibility were analyzed by array comparative genomic hybridization (aCGH) experiments on pooled samples using the Agilent 2 × 400K platform. No single nucleotide polymorphism (SNP) reached GWAS association threshold, but 21 of the most associated SNPs were chosen for replication in 952 cases and 644 controls. Four of the SNPs selected for replication showed a nominal association in the joint analysis, and rs11127292 (MYT1L) was found to be associated to FM with low comorbidities (P = 4.28 × 10−5, odds ratio [95% confidence interval] = 0.58 [0.44-0.75]). aCGH detected 5 differentially hybridized regions. They were followed up, and an intronic deletion in NRXN3 was demonstrated to be associated to female cases of FM with low levels of comorbidities (P = .021, odds ratio [95% confidence interval] = 1.46 [1.05-2.04]). Both GWAS and aCGH results point to a role for the central nervous system in FM genetic susceptibility. If the proposed FM candidate genes were further validated in replication studies, this would highlight a neurocognitive involvement in agreement with latest reports

Population and primary health-care team characteristics explain the quality of the service

Objectives To identify the characteristics of the primary health-care (PHC) team's structure and of the assigned population affecting service quality dimensions, and to check whether the PHC team's performance varies when assessing the service quality using crude values or those adjusted by the structural factors that affect it.Research design Cross-sectional descriptive study.Subjects 213 Catalan PHC teams.Measurements Service quality indicators measured in three dimensions: (1) access and physician-patient relationship; (2) team coordination and (3) evidence-based practice. The PHC team structural factors studied are: experience, setting (urban or rural), geographical dispersion, teaching activities and managerial structure. The catchment population characteristics analysed are: age, socio-economic level, mortality, and the proportion of the population that are immigrants.Results Access and physician-patient relationship dimension were not affected by the studied structural factors. Team coordination improved in rural teams and in those providing care for older populations. Evidence-based practice was found to be higher in teaching teams, in more experienced teams and in those attending populations with a lower socio-economic level. Adjusted service quality indicator values substantially modify the PHC team quality ranking carried out on the basis of its crude values, especially in the team coordination and evidence-based practice dimensions.Conclusions A fair evaluation of PHC team performance must be based on its health-care service quality indicators adjusted for setting, age and socio-economic level of the catchment population and for the team's experience and teaching activities.

El producto de la atención primaria definido por profesionales y usuarios Primary health care product defined by health professionals and users

Objetivo: Definir los componentes del producto de la atención primaria de salud (APS) a partir de las opiniones de profesionales y usuarios, para establecer indicadores de evaluación. Métodos: Estudio con metodología cualitativa, con técnicas grupales: grupo nominal (profesionales) y grupos focales (usuarios). Ámbito de realización: APS de Catalunya. Se realizaron 7 grupos: a) médicos de familia y pediatras; b) enfermeras y trabajadoras sociales; c) personal de la unidad de admisión y atención al usuario; d) otros médicos especialistas; e) usuarios, y f) gestores, farmacéuticos y farmacólogos y técnicos de salud. Los participantes respondieron a la pregunta: «Respecto a los servicios que debería ofrecer la APS, ¿cuáles son los aspectos que se deberían valorar?». Se realizó un análisis de contenido. Los datos textuales se descompusieron en unidades, posteriormente agrupadas en categorías, siguiendo el criterio de analogía. Se tuvo en cuenta el contexto de interpretación del equipo investigador. Resultados: Profesionales y usuarios identifican 4 dimensiones del producto de la APS, coincidentes con sus atributos básicos: a) accesibilidad a los servicios; b) coordinación y continuidad del equipo de APS con otros niveles asistenciales; c) relación entre profesionales y usuarios, y d) calidad científico-técnica de los equipos de atención primaria y cartera de servicios. Equidad, satisfacción y eficiencia aparecen en los discursos como ejes transversales de todos los componentes del producto identificados. Conclusión: Hay una gran coincidencia en la definición del producto entre profesionales y usuarios. La relación profesional-paciente aparece como un elemento clave en todos los grupos. Estas 4 dimensiones deberían formar parte de la evaluación de los equipos de APS.Objective: To identify the components of the primary health care (PHC) product defined by health professionals and users in order to establish indicators for evaluation. Methods: Qualitative methodology was used with group techniques: a nominal group (health professionals) and focus groups (users). The study was performed in PHC centers in Catalonia (Spain). There were 7 groups: a) family physicians and pediatricians; b) nurses and social workers; c) staff from admissions units and customer services; d) other medical specialists; e) users; f) managers, pharmacists, pharmacologists, and technicians. Participants responded to the question: «Which features should be evaluated in the services that should be provided by PHC?». A content analysis was performed. Textual data were broken down into units and then grouped into categories, following analogy criteria. The interpretative context of the research team was taken into account. Results: Health professionals and users identified 4 dimensions of the PHC product, coinciding with its basic attributes: a) access to services; b) coordination and continuity of the PHC teams with other levels of healthcare; c) relationship between health professionals and users, and d) scientific-technical quality of the PHC teams and the portfolio of services. Equity, satisfaction and efficiency appeared as keystones in all the components of the product identified. Conclusion: There was broad agreement in the product definition among health professionals and users. The relationship between health professionals and patients was a key element in all groups. The four dimensions should be included in the evaluation of PHC teams