Impacto de una intervención informativa sobre el programa de cribado de cáncer colorrectal en profesionales de atención primaria

Objetivo: Evaluar el impacto de una intervención informativa a profesionales de atención pri-maria sobre sus conocimientos de cribado de cáncer colorrectal, recomendaciones de vigilanciaposterior y estrategias de derivación. Método diseÑo: Ensayo clínico controlado y aleatorizado por conglomerados. Emplazamiento:centros de atención primaria de L'Hospitalet de Llobregat (Barcelona). Participantes: médi-cos y enfermeras de atención primaria. Intervención: sesión informativa y envío de píldorasinformativas en 6 de 12 centros (seleccionados aleatoriamente) sobre el programa de cribadocáncer colorrectal. Mediciones principales: cuestionario ad hoc que recoge las característicasde los profesionales, los centros y 2 variables contextuales; implicación de los profesionalesen el programa de cribado; conocimientos sobre el cáncer colorrectal, los factores de riesgo,los procedimientos de cribado, las recomendaciones de seguimiento posterior a la exploracióndiagnóstica y las estrategias de derivación. Resultados: La media de la puntuación total en el primer cuestionario fue 8,07(1,38) sobre 11 yla del segundo 8,31(1,39). No se encontraron diferencias estadísticamente significativas entreel grupo intervención y control, sin embargo, en 9 preguntas se aumentó el porcentaje de res-puestas correctas en el grupo intervención, mayoritariamente relacionadas con el seguimientoposterior a la exploración diagnóstica. Conclusiones: La intervención mejora el porcentaje de respuestas correctas, sobre todo enaquellas en las que se obtuvo peor puntuación en el primer cuestionario. Este estudio muestraque los profesionales están familiarizados con el cribado de cáncer colorrectal, pero es impor-tante tener una comunicación frecuente con ellos para mantener actualizada la informaciónrelacionada con el cribado y fomentar su implicación con el mismo

Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain

This is an open access article distributed under the Creative Commons Attribution License.-- et al.Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of < 59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling. © 2014 María-Isabel Tejada et al.Thanks are due to the agreements between GIRMOGEN and the Real Patronato sobre Discapacidad of the Spain’s Ministry for Health, Social Services and Equality (Spain) to carry out this study.Peer Reviewe

Colonoscopy quality assessment in a mass population screening programme based on faecal occult blood test

Background and aim: the success of colorectal cancer (CRC) screening programmes largely depends on the quality of the events, processes and outcomes and therefore, quality assurance of endoscopy is an essential component. The quality indicators for colonoscopy in a screening programme setting are different from those performed in symptomatic people. The objective of this study was to report the main quality indicators of colonoscopies performed after a positive faecal occult blood test (FOBT) in a CRC screening programme in Catalonia. Methods: the period of study includes three rounds of the CRC screening programme from June 2006 to July 2013. Two types of FOBT were used: a qualitative biochemical guaiac-based test (gFOBT) and a quantitative immunochemical test (FIT). Quality indicators analysed in this study were compared to recommended colonoscopy standards from the published guidelines. Results: during the study period, 1,806 colonoscopies were performed in 1,691 individuals with a positive FOBT. All indicators were within the standard except waiting time to colonoscopy. Caecal intubation rate was 95.6 % and adequate bowel cleansing 93.6 %. Adenoma detection rate was better using FIT than gFOBT, 30.7 and 3.8 per 1,000 screenees, respectively. Cancer detection rate was also greater using FIT. Nearly 62 % of cancers were diagnosed at an early stage. The overall complication rate was 10.7 . Conclusion: although the majority of results reached the recommended standards, some areas have been identified for quality enhancement. Continuous monitoring of quality indicators is essential for improving the current effectiveness of CRC screening programmes

Cánceres de intervalo y sensibilidad de los programas poblacionales de cribado de cáncer colorrectal

Objetivo: Describir los cánceres de intervalo y la sensibilidad de los programas de cribado de cáncer colorrectal. Métodos: Revisión sistemática de la literatura con búsqueda en MEDLINE. La estrategia de búsqueda combina los términos 'cáncer de intervalo', 'falso negativo', 'cribado', 'cribado poblacional', 'detección precoz de cáncer' y 'cáncer colorrectal'. Los criterios de inclusión fueron programas poblacionales de cribado de cáncer colorrectal, artículos originales en inglés o español, y fechas de publicación comprendidas entre enero de 1999 y febrero de 2015. Se realizó una síntesis narrativa de los artículos incluidos, detallando las características de los programas de cribado y de los cánceres de intervalo, y la sensibilidad del cribado utilizando como indicador el número de cánceres detectados mediante el cribado dividido por el total de tumores diagnosticados en la población cribada (método tradicional) o la incidencia proporcional, calculada como la incidencia de cánceres de intervalo en relación con la incidencia esperada en ausencia de cribado. Resultados: Se incluyeron 13 artículos. La sensibilidad de los programas de cribado osciló entre el 42,2% y el 65,3% en los programas que utilizan el test del guayaco, y entre el 59,1% y el 87,0% con el test inmunológico. Se ha encontrado una mayor proporción de mujeres a las que se diagnosticó un cáncer de intervalo, y que estas lesiones estaban mayoritariamente localizadas en el colon proximal. Conclusión: Existe una gran variabilidad en la proporción de cánceres de intervalo en los programas poblacionales de cáncer colorrectal. Para garantizar la comparabilidad entre programas, es necesario un consenso en la definición operacional de cánceres de intervalo y en los métodos utilizados para su identificación y cuantificación

Interval cancers in a population-based screening program for colorectal cancer in Catalonia, Spain

Objective. To analyze interval cancers among participants in a screening program for colorectal cancer (CRC) during four screening rounds. Methods. The study population consisted of participants of a fecal occult blood test-based screening program from February 2000 to September 2010, with a 30-month follow-up (n = 30,480). We used hospital administration data to identify CRC. An interval cancer was defined as an invasive cancer diagnosed within 30 months of a negative screening result and before the next recommended examination. Gender, age, stage, and site distribution of interval cancers were compared with those in the screen-detected group. Results. Within the study period, 97 tumors were screen-detected and 74 tumors were diagnosed after a negative screening. In addition, 17 CRC (18.3%) were found after an inconclusive result and 2 cases were diagnosed within the surveillance interval (2.1%). There was an increase of interval cancers over the four rounds (from 32.4% to 46.0%). When compared with screen-detected cancers, interval cancers were found predominantly in the rectum (OR: 3.66; 95% CI: 1.51-8.88) and at more advanced stages (P = 0.025). Conclusion. There are large numbers of cancer that are not detected through fecal occult blood test-based screening. The low sensitivity should be emphasized to ensure that individuals with symptoms are not falsely reassured

Pharmacogenetic Modulation of STEP improves motor and cognitive function in a mouse model of Huntington's disease.

Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by an expansion of a CAG repeat in the huntingtin (htt) gene, which results in an aberrant form of the protein (mhtt). This leads to motor and cognitive deficits associated with corticostriatal and hippocampal alterations. The levels of STriatal-Enriched protein tyrosine Phosphatase (STEP), a neural-specific tyrosine phosphatase that opposes the development of synaptic strengthening, are decreased in the striatum of HD patients and also in R6/1 mice, thereby contributing to the resistance to excitotoxicity described in this HD mouse model. Here, we aimed to analyze whether STEP inactivation plays a role in the pathophysiology of HD by investigating its effect on motor and cognitive impairment in the R6/1 mouse model of HD. We found that genetic deletion of STEP delayed the onset of motor dysfunction and prevented the appearance of cognitive deficits in R6/1 mice. This phenotype was accompanied by an increase in pERK1/2 levels, a delay in the decrease of striatal DARPP-32 levels and a reduction in the size of mhtt aggregates, both in the striatum and CA1 hippocampal region. We also found that acute pharmacological inhibition of STEP with TC-2153 improved cognitive function in R6/1 mice. In conclusion, our results show that deletion of STEP has a beneficial effect on motor coordination and cognition in a mouse model of HD suggesting that STEP inhibition could be a good therapeutic strategy in HD patients

Positive impact of a faecal-based screening programme on colorectal cancer mortality risk

Introduction The effectiveness of colorectal cancer (CRC) screening programs is directly related to participation and the number of interval CRCs. The objective was to analyse specific-mortality in a cohort of individuals invited to a CRC screening program according to type of CRC diagnosis (screen-detected cancers, interval cancers, and cancers among the non-uptake group). Material and methods Retrospective cohort that included invitees aged 50-69 years of a CRC screening program (target population of 85,000 people) in Catalonia (Spain) from 2000-2015 with mortality follow-up until 2020. A screen-detected CRC was a cancer diagnosed after a positive faecal occult blood test (guaiac or immunochemical); an interval cancer was a cancer diagnosed after a negative test result and before the next invitation to the program (<= 24 months); a non-uptake cancer was a cancer in subjects who declined screening. Results A total of 624 people were diagnosed with CRC (n = 265 screen-detected, n = 103 interval cancers, n = 256 non-uptake). In the multivariate analysis, we observed a 74% increase in mortality rate in the group with interval CRC compared to screen-detected CRC adjusted for age, sex, location and stage (HR: 1.74%, 95% CI:1.08-2.82, P = 0.02). These differences were found even when we restricted for advanced-cancers participants. In the stratified analysis for type of faecal occult blood test, a lower mortality rate was only observed among FIT screen-detected CRCs. Conclusion CRC screening with the FIT was associated with a significant reduction in CRC mortality

Colorectal cancer screening programme in Spain: results of key performance indicators after five rounds (2000-2012)

A l'article en PDF consta com a vol. 5Effective quality assurance is essential in any screening programme. This article provides a unique insight into key quality indicators of five rounds of the first population-based colorectal cancer screening programme implemented in Spain (2000-2012), providing the results according to the type of screening (prevalent or first screen and incident or subsequent screen) and test (guaiac or immunochemical). The total crude participation rate increased from 17.2% (11,011) in the first round to 35.9% (22,988) in the last one. Rescreening rate was very high (88.6% in the fifth round). Positivity rate was superior with the faecal immunochemical test (6.2%) than with the guaiac-based test (0.7%) (p< 0.0001) and detection rates were also better with the immunochemical test. The most significant rise in detection rate was observed for high risk adenoma in men (45.5 per 1,000 screened). Most cancers were diagnosed at an early stage (61.4%) and there was a statistically significant difference between those detected in first or subsequent screening (52.6% and 70.0% respectively; p= 0.024). The availability of these results substantially improves data comparisons and the exchange of experience between screening programmes

Evaluación de dos estrategias de cribado de cáncer colorrectal: Test inmunológico versus test bioquímico. Cataluña, 2008-2010

Fundamento: El objetivo del estudio fue evaluar el cambio de estrategia de cribado (test inmunológico cuantitativo) en un programa poblacional de detección precoz de cáncer colorrectal (CCR) en Cataluña. Métodos: La cuarta ronda del programa de cribado de CCR en Hospitalet de Llobregat se implementó en 2008-2010. Se ofreció un test bioquímico a 50.227 individuos y uno inmunológico cuantitativo a 12.707 individuos. Se analizaron diferencias en las dos estrategias de cribado respecto a variables de aceptabilidad (entre participación, abandonos y adherencia a la colonoscopia), de precisión diagnóstica (valor predictivo positivo y tasas de detección), de resultados (tamaño y localización de lesiones, estadio de los cánceres detectados) y de recursos (número necesario de colonoscopias e intervalo de tiempo entre el resultado positivo del test y la colonoscopia). Resultados: La participación en el cribado fue superior entre los individuos que utilizaron el test inmunológico (OR: 1,35; IC95%:1,27-1,42). Las tasas de detección fueron superiores para el test inmunológico destacando la de adenomas de alto riesgo (26,7 vs 3,0 ). El valor predictivo positivo para adenomas de alto riesgo fue del 45,0% y del 46,9% en el inmunológico y el guayaco, respectivamente. El número de colonoscopias necesarias para detectar un cáncer fue de casi el doble que en el guayaco (13,6 vs 7,4). Conclusiones: El test inmunológico es una buena estrategia de cribado especialmente sensible para la detección de adenomas de alto riesgo. Sin embargo, requiere realizar un gran número de colonoscopias y por ello se debe disponer de los recursos y medios necesarios