Desigualdades en salud materno-infantil: impacto de una intervención

ResumenSe evalúa en términos del impacto poblacional una intervención sociosanitaria materno-infantil en un área urbana de Barcelona (el distrito de Ciutat Vella) de renta familiar baja. La intervención se basó en facilitar el acceso a los servicios sociales y sanitarios a embarazadas y recién nacidos. Eldiseño del estudio es cuasiexperimental con un grupo de control no equivalente y medidas múltiples en el tiempo. Se comparan las tasas de mortalidad infantil y perinatal acumuladas del distrito de Ciutat Vella con las del resto de la ciudad antes (1983-86) y después de la intervención (1987-89, 1990-92).Los resultados muestran que las diferencias iniciales existentes entre las tasas de mortalidad de las dos poblaciones desaparecen después del desarrollo del programa. La mortalidad infantil en Ciutat Vella pasó de 17,7/1.000 nacimientos en 1983-86 a 13,1/1.000 nacimientos en 1987-89 y a a 13,4/1.000 nacimientos en 1990-92, mientras que en el resto de la ciudad las tasas pasan de 9,5 a 8, 8 y 7,7/1.000 nacimientos, respectivamente.Se concluye que los programas sociosanitarios integrados en zonas urbanas pequeñas de baja renta familiar pueden contribuir a la reducción de las desigualdades en salud materno-infantil.SummaryWe present the evaluation of the population impact of a social and health maternal and child intervention, implemented in a low income urban area (Ciutat Vella) in Barcelona, Spain. Intervention was based on increasing access to health and social services for pregnant women and for the children. A quasiexperimental design with a nonequivalent control group and multiple measurements was used. We compared infant and perinatal cumulative mortality rates between Ciutat Vella District and the rest of the city, before (1983-86) and after the intervention (1987-89, 1990-92).Results showed that the significant differences found previously to the program betwen the mortality rates disappeared with the development of the program. Infant mortality in Ciutat Vella was 17.7/.000 births in 1983-86, and became 13.1/1.000 births in 1987-89, and 13,4 in 1990-92; in the rest of the city, infant mortality was 9.5/1.000 births in 1983-86, and became 8.8/ and 7.7/1000 births respectively.A comprehensive social and health care program implemented in small low income areas may contribute to reduce inequalities in maternal and child health

Avaluació dels resultats de la concentració de la cirurgia oncològica digestiva d’alta especialització a Catalunya: actualització 2014-2015

Cirurgia oncològica; Avaluació; IndicadorsCirugía oncológica; Evaluación; IndicadoresOncological surgery; Evaluation; IndicatorsEl presente trabajo corresponde a la segunda evaluación de los resultados de la cirugía oncológica digestiva de alta especialización con intención curativa de cirugía de esófago, de páncreas y de hígado (que incluye metástasis hepáticas desde la primera evaluación, actualmente ampliado a vías biliares y tumor hepático primario) para los años 2014 y 2015. A diferencia de la primera evaluación basada en el uso de la auditoría clínica "externa", la metodología aplicada en esta segunda evaluación incorpora información directa de los propios profesionales. En ambos casos ha habido feedback, y validación de los resultados finales por su parte.El present treball correspon a la segona avaluació dels resultats de la cirurgia oncològica digestiva d’alta especialització amb intenció curativa de cirurgia d’esòfag, de pàncrees i de fetge (que inclou metàstasis hepàtiques des de la primera avaluació, actualment ampliat a vies biliars i tumor hepàtic primari) per als anys 2014 i 2015. A diferència de la primera avaluació basada en l’ús de l’auditoria clínica “externa”, la metodologia aplicada en aquesta segona avaluació incorpora informació directa dels propis professionals. En ambdós casos hi ha hagut feedback, i validació dels resultats finals per part seva.The present work corresponds to the second evaluation of the results of the digestive oncology surgery of high specialization with a curative intention of surgery of the esophagus, pancreas and liver (which includes hepatic metastases from the first evaluation, currently extended to bile ducts and primary hepatic tumor) for the years 2014 and 2015. Unlike the first evaluation based on the use of the "external" clinical audit, the methodology applied in this second evaluation incorporates direct information from the professionals themselves. In both cases there has been feedback, and validation of the final results on his part

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

INTRODUCTION: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. METHODS: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. RESULTS: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. DISCUSSION: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks : The GR@ACE project

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease