El tatuaje endoscópico en las neoplasias colorrectales intervenidas vía laparoscópica: una propuesta de marcaje selectivo

RESUMEN Introducción y objetivo: el tatuaje endoscópico preoperatorio es un procedimiento eficaz que permite la localización intraoperatoria de neoplasias de pequeño tamaño. Sin embargo, actualmente no existen unos criterios definidos sobre las indicaciones del tatuaje endoscópico de estas neoplasias en el momento del diagnóstico. El objetivo es establecer unos criterios endoscópicos para seleccionar los pacientes que precisarán un tatuaje. Material y métodos: estudio ambispectivo de pacientes intervenidos de neoplasia colorrectal por laparoscopia en los que se realizó tatuaje endoscópico en el periodo (2007-2013 y 2016-2017). De acuerdo con la descripción endoscópica de las neoplasias se clasificaron en: lesiones polipoideas, neoplasias que ocupan < 50% o ≥ 50% de la luz intestinal y neoplasias estenosantes. Resultados: se realizó tatuaje de la lesión en 120 pacientes y en 114 (95%) se identificó el mismo durante la cirugía. La mayor parte de las neoplasias descritas como polipoideas y neoplasias que ocupaban < 50% de la luz intestinal no se visualizaban en la cirugía y por tanto precisaban el tatuaje (33 de 42 y 18 de 26 respectivamente, p = 0.0001, 2). En cambio, aquellas lesiones estenosantes o bien neoplasias que ocupaban ≥ 50% de la luz intestinal se identificaban mayoritariamente en la cirugía (15 de 15 y 36 de 37 respectivamente, p = 0.0001, 2) sin necesidad de tatuaje. En conjunto la identificación de las neoplasias según los criterios establecidos fue del 98%. Conclusiones: estos resultados sugieren que es posible establecer unos criterios endoscópicos que permitan realizar un tatuaje selectivo durante la endoscopia diagnóstica manteniendo el éxito del mismo

Dairy product consumption and metabolic diseases in the [email protected] study

To date it is not clear what the role of dairy products is in metabolic diseases like diabetes, obesity, and hypertension. Therefore, the aim of this study is to test the association between dairy product consumption and those pathologies. A cross-sectional study was conducted with 5081 adults included in the [email protected] study, from 100 health centers around Spain. Food frequency questionnaires were carried out concerning consumption habits, which included dairy product consumption. Logistic regression models were used for the association analyses between the variables controlling confounding variables. Women had a higher consumption of milk, cheese, or yogurt than men (p < 0.0001), but men consumed more sugar dairy products (p < 0.001). People who live in the North of Spain consume more dairy products than those who live in the East. Dairy product consumption was inversely associated with the presence of hypertension regardless of age, sex, geographical region, and body mass index (BMI) (Odds Ratio (OR) 0.743; p = 0.022). The presence of obesity was inversely associated with dairy consumption regardless of age, sex, and geographical region (OR 0.61; p < 0.001). Milk consumption was not associated with diabetes. Our results show that consuming dairy products is associated with a better metabolic profile in the Spanish population

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

WOS: 000481590200024PubMed ID: 31427717Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER) [PI15/01159]; Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); Catalan Association for Rett Syndrome; Fondobiorett; Mi Princesa RettWe thank all patients and their families who contributed to this study. The work was supported by grants from the Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER, PI15/01159); Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); the Catalan Association for Rett Syndrome; Fondobiorett and Mi Princesa Rett

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele