Estrategia de captación para vacunación en una zona de transformacion social / Recruitment strategy for vaccination in a social transformation area

En zona de transformación social del sur de España, se realiza una estrategia de captación para vacunación COVID-19 de personas que cumplen con los requisitos establecidos. Se realiza captación en zona de 360 personas de etnia gitana, mediante un equipo de asistencia social apoyado por Protección Civil. Se reparten mascarillas como reclamo para entablar contacto y dar información del proceso de vacunación. Posteriormente, se procede a la vacunación. Se consiguió vacunar al 40% de la población. Un 14% correspondían a aquellos con enfermedad reciente o vacunados; el resto eran menores. Se recogió, el argumento que tenían para rechazar vacunarse. La organización, y buena integración de los servicios sociales en programas de Salud Pública, ha tenido un importante papel en la creación y aceptación de programas específicos con, resultados evaluables. Tanto la estrategia de captación como la respuesta obtenida se consideraron buenas. Encontramos necesarias este tipo de intervenciones en determinados colectivos.(AU)

In an area of social transformation in southern Spain, a recruitment strategy for COVID-19 vaccination of people who meet the established requirements. A social assistance team, supported by Civil Protection, is recruiting 360 gypsy people in the area. Masks are distributed as a lure to establish contact and provide information on the vaccination process. Subsequently, vaccination is carried out. We managed to vaccinate 40% of the population. Some 14% corresponded to those with recent disease or vaccinated; the rest were minors. The argument they had for refusing to be vaccinated was collected. The organization and good integration of social services in Public Health programs has played an important role in the creation and acceptance of specific programs with evaluable results. Both the recruitment strategy and the response obtained were considered good. We found this type of intervention necessary in certain groups.(AU)

Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.

INTRODUCTION AND OBJECTIVES: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course. METHODS: Observational study of Romani patients with familial PVOD included in the Spanish Registry of Pulmonary Arterial Hypertension. Genetic screening of EIF2AK4 was performed in index cases and relatives between November 2011 and July 2016 and histological pulmonary examination was carried out in patients who received a lung transplant or died. The patients were divided into 2 groups depending on their tolerance to PVD, with comparison of baseline characteristics and survival free of death or lung transplant. RESULTS: Eighteen Romani patients were included: 9 index cases and 9 relatives. The biallelic founder mutation in EIF2AK4 was found in all affected cases and 2 unaffected relatives. Family screening showed 34.2% of healthy heterozygotes, high consanguinity, young age at childbirth, and frequent multiparity. Prognosis was bleak, with significant differences depending on tolerance to PVD. CONCLUSIONS: We describe 2 phenotypes of hereditary PVOD depending on tolerance to PVD, with prognostic impact and familial distribution. Consanguinity may have a negative impact on the transmission of PVOD, with familial genetic screening showing high effectiveness.

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.

BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are homozygous for an SLC12A3 intron 9 frameshifting mutation (c.1180+1G>T). Some forms of Bartter's syndrome result from mutations in the CLNCKB gene and clinically overlap with GS. OBJECTIVES: To characterize a second SLC12A3 mutation in Roma patients negative for the intron 9 variant. METHODS: SLC12A3 and CLNCKB genes were analyzed by next-generation sequencing in two Spanish and Greek gypsy patients who were negative for the intron 9 splicing mutation. Sanger sequencing was performed to confirm the putative mutations in patients and family members. RESULTS: We identified a missense variant (p.Val647Met, c.1939G>A) in both cases, and both were homozygous for Met. This mutation was also found in three additional patients; two homozygous and one heterozygous compound with the intron 9 splicing mutation. This new SLC12A3 mutation seems to be characteristic of gipsy GS patients and was linked to the same haplotype in all cases, supporting a founder origin. All the patients showed biochemical features characteristic of GS. CONCLUSION: We report a second founder mutation among GS patients of Roma ethnic background. The direct screening of this mutation would facilitate the characterization of patients who are negative for the more common intron 9 +1G>T mutation.