Participación ciudadana, imprescindible en procesos comunitarios: experiencia en la realización del diagnóstico de salud de Santpedor / Citizen participation, essential in community processes: experience in the Santpedor health diagnosis

Introducción. En este artículo se quiere plasmar la grata experiencia de hacer un diagnóstico de salud en la población de Santpedor. El diagnóstico se llevó a cabo con acción participativa desde el primer momento y durante todo el proceso. Se hizo con un grupo motor, donde solo dos de las 15 personas que lo representan eran agentes sanitarios. Estos agentes legitimaron el proceso comunitario, coordinaron el grupo motor y lo guiaron. Sin embargo, eran una pieza más del puzle comunitario, siendo los otros 13 agentes comunitarios no sanitarios los auténticos protagonistas al posibilitar llegar a la población y completar el puzle comunitario. Objetivo. Realizar el diagnóstico de salud de Santpedor con acción participativa. Métodos. Se utilizó una metodología mixta secuencial y explicativa, con una parte cuantitativa (descriptivo transversal) y una parte cualitativa (acción participativa). En este artículo se explica la metodología que se utilizó para hacer el diagnóstico de salud de Santpedor y se describen las estrategias participativas para llegar a la población y favorecer la pertinencia en el proceso comunitario, así como las técnicas empleadas para la detección de las necesidades y su priorización. Las técnicas cualitativas utilizadas para la detección de los activos fueron el mapping party y la marcha de activos. Las técnicas empleadas para identificar las necesidades fueron la encuesta y las entrevistas grupales (grupos focales, grupo nominal y entrevistas individuales). Resultados. Se identificaron 604 activos de Santpedor. En el análisis cuantitativo se observó que Santpedor presentaba un gran relevo generacional y un tejido económico diversificado. En el análisis cualitativo, se logró una gran cantidad de información con la que, una vez analizada y trabajada con todo el grupo motor, se confeccionó un listado con 17 necesidades que había que cubrir para mejorar la salud de la población. ... (AU)

Introduction. In this paper we seek to capture the pleasant experience in making a health diagnosis in the Santpedor population. The diagnosis was made with participation from the very first moment and during the entire process. It was made with a driving group where only two of the 15 people representing it were health agents. These agents legitimized the community process, coordinated the driving group and guided it. However, they were just one more piece of the community puzzle, the other 13 non-health community agents being the real protagonists to reach the population and complete the community puzzle. Aim. To make a health diagnosis in Santpedor with the population taking part. Methods. A mixed explanatory sequential methodology was used. Comprised of a quantitative part (cross-sectional descriptive) and a qualitative part (participation). This paper explains the methodology used to made this. It reports the participation used to reach the population and favour relevance in the community process; as well as the techniques used to detect needs and their prioritization. The qualitative techniques used to detect assets were: mapping party, asset march. The techniques used to detect needs were by means of a survey ("bustiada") and group interviews (focus groups, nominal group and individual interviews). Results. A total of 604 Santpedor assets were identified. In the quantitative analysis, it was observed that Santpedor had a major generational change and a diversified economic fabric. In the qualitative analysis, a large amount of information was obtained which, once analyzed and worked on with the entire driving group, led to a list of 17 needs to improve the health of the population. These needs were prioritized by means of a simple vote, where a large citizen participation was attained with 754 votes from the citizens. The first need detected was "housing needs", followed by "public transportation needs", and "work needs". ... (AU)

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal proteins. Origin of these variants, including de novo mutation rate and extent of founder versus recurrent variants has implications for variant adjudication and clinical care, yet this has never been systematically investigated. METHODS: We identified arrhythmogenic right ventricular cardiomyopathy probands who met 2010 Task Force Criteria and had undergone genotyping that included sequencing of the desmosomal genes (PKP2, DSP, DSG2, DSC2, and JUP) from 3 arrhythmogenic right ventricular cardiomyopathy registries in America and Europe. We classified the desmosomal variants, defined the contribution of unique versus nonunique (ie, not family-specific) P/LP variants, and identified the frequency and characteristics of de novo variants. Next, we haplotyped nonunique variants to determine how often they likely represent a single mutation event in a common ancestor (implied by shared haplotypes) versus multiple mutation events at the same genetic location. RESULTS: Of 501 arrhythmogenic right ventricular cardiomyopathy probands, 322 (64.3%) carried 327 desmosomal P/LP variants. Most variants (n=247, 75.6%, in 245 patients) were identified in more than one proband and, therefore, considered nonunique. For 212/327 variants (64.8%) genetic cascade screening was performed extensively enough to identify the parental origin of the P/LP variant. Only 3 variants were de novo, 2 of which were whole gene deletions. For 24 nonunique P/LP PKP2 variants, haplotyping was conducted in 183 available families. For all 24 variants, multiple seemingly unrelated families sharing identical haplotypes were identified, suggesting that these variants originate from common founders. CONCLUSIONS: Most desmosomal P/LP variants are inherited, nonunique, and originate from ancient founders. Two of 3 de novo variants were large deletions. These observations inform genetic testing, cascade screening, and variant adjudication.

Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

OBJECTIVES: The purpose of this study was to determine the extent of left ventricular (LV) involvement in individuals predisposed to developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), and to investigate novel morphologic variants of ARVD/C. BACKGROUND: The discovery of desmosomal mutations associated with ARVD/C has led researchers to hypothesize equal right ventricular (RV) and LV affliction in the disease process. METHODS: Thirty-eight (age 30 +/- 17 years; 18 males) family members of 12 desmosomal mutation-carrying ARVD/C probands underwent genotyping and cardiac magnetic resonance imaging (CMR). The CMR investigators were blinded to clinical and genetic data. RESULTS: Twenty-five individuals had mutations in PKP2, DSP, and/or DSG2 genes. RV abnormalities were associated with the presence of mutation(s) and with disease severity determined by criteria (minor = 1; major = 2) points for ARVD/C diagnosis. The only LV abnormality detected, the presence of intramyocardial fat, was present in 4 individuals. Each of these individuals was a mutation carrier, whereas 1 had no previously described ARVD/C-related abnormality. On detailed CMR, a focal "crinkling" of the RV outflow tract and subtricuspid regions ("accordion sign") was observed in 60% of the mutation carriers and none of the noncarriers (p < 0.001). The sign was present in 0%, 37%, 71%, and 75% of individuals who met 1, 2, 3, and 4+ criteria points, respectively (p < 0.01). CONCLUSIONS: Despite a possible LV involvement in ARVD/C, the overall LV structure and function are well preserved. Independent LV involvement is of rare occurrence. The accordion sign is a promising tool for early diagnosis of ARVD/C. Its diagnostic utility should be confirmed in larger cohorts.