Enfermedad Meningocócica en España. Análisis de la temporada 2016-2017

[ES] La enfermedad meningocócica es de declaración obligatoria en España. Los casos se notifican de manera individualizada con periodicidad semanal, incluyendo información epidemiológica y microbiológica a través de la Red Nacional de Vigilancia Epidemiológica (RENAVE). La presentación de esta enfermedad en la población española ha sufrido cambios muy importantes. El uso de la vacuna frente al serogrupo C ha causado un gran descenso de la incidencia por este serogrupo. Además en la última década también han disminuido los casos por serogrupo B. En la temporada 2016-2017 se notificaron 321 casos, de los que se confirmaron 270 y la incidencia fue de 0,58 por 100.000 habitantes. Se presenta el análisis de los resultados generales de la vigilancia epidemiológica de la enfermedad meningocócica para la temporada 2016-2017 en España y su comparación con las previas.[EN] Meningococcal disease is notifiable in Spain. The cases were notified individually on a weekly basis, including epidemiological and microbiological information through the National Network of Epidemiological Surveillance (RENAVE). The incidence of this disease in the Spanish population has undergone very important changes. Vaccination against serogroup C has caused a large decrease in the incidence of this serogroup. In addition, in the last decade cases caused by serogroup B have also decreased. In the 2016-2017 season, 321 cases were notified, of which 270 were confirmed and the incidence was 0.58 per 100,000 inhabitants. We analyzed the results of the epidemiological surveillance of meningococcal disease for the 2016-2017 season in Spain and its comparison with the previous ones.N

Enfermedad meningocócica en España. Análisis de la temporada 2016-2017

[ES] La enfermedad meningocócica es de declaración obligatoria en España. Los casos se notifican de manera individualizada con periodicidad semanal, incluyendo información epidemiológica y microbiológica a través de la Red Nacional de Vigilancia Epidemiológica (RENAVE). La presentación de esta enfermedad en la población española ha sufrido cambios muy importantes. El uso de la vacuna frente al serogrupo C ha causado un gran descenso de la incidencia por este serogrupo. Además en la última década también han disminuido los casos por serogrupo B. En la temporada 2016-2017 se notificaron 321 casos, de los que se confirmaron 270 y la incidencia fue de 0,58 por 100.000 habitantes. Se presenta el análisis de los resultados generales de la vigilancia epidemiológica de la enfermedad meningocócica para la temporada 2016-2017 en España y su comparación con las previas. [EN] Meningococcal disease is notifiable in Spain. The cases were notified individually on a weekly basis, including epidemiological and microbiological information through the National Network of Epidemiological Surveillance (RENAVE). The incidence of this disease in the Spanish population has undergone very important changes. Vaccination against serogroup C has caused a large decrease in the incidence of this serogroup. In addition, in the last decade cases caused by serogroup B have also decreased. In the 2016-2017 season, 321 cases were notified, of which 270 were confirmed and the incidence was 0.58 per 100,000 inhabitants. We analyzed the results of the epidemiological surveillance of meningococcal disease for the 2016-2017 season in Spain and its comparison with the previous ones

Effectiveness of a group educational intervention - prolact - in primary care to promote exclusive breastfeeding: a cluster randomized clinical trial

Background: The rates of exclusive breastfeeding at 6months in Spain are far from recommended by the World Health Organization, which is 50% by 2025. Evidence of the efectiveness of group interventions in late postpartum is limited. The objective of this study was to evaluate the efectiveness of the PROLACT group educational intervention for increasing the proportion of mother-child dyads with exclusive breastfeeding at 6months compared to the usual practice in primary care. Method: Multicentre cluster randomized clinical trial. A total of 434 mother-child dyads who breastfed exclusively in the frst 4weeks of the children’s life and agreed to participate were included. The main outcome was exclusive breast‑feeding at 6months. Secondary variables were type of breastfeeding, reasons for abandonment, degree of adherence and satisfaction with the intervention. To study the efectiveness, the diference in the proportions of dyads with exclusive breastfeeding at 6months was calculated, and the relative risk (RR) and number needed to treat (NNT) were calculated with their 95% CIs. To study the factors associated with the maintenance of exclusive breastfeeding at 6months, a multilevel logistic regression model was ftted. All analyses were performed to intention to treat. Results: The percentage of dyads with exclusive breastfeeding at 6months was 22.4% in the intervention group and 8.8% in the control group. PROLACT intervention obtained an RR =2.53 (95% CI: 1.54–4.15) and an NNT=7 (95%CI: 5–14). The factors associated with exclusive breastfeeding at 6months were the PROLACT intervention, OR=3.51 (95%CI: 1.55–7.93); age>39 years, OR=2.79 (95%CI: 1.02–7.6); previous breastfeeding experience, OR=2.61 (95%CI: 1.29–5.29); income between 500 and 833.33 €, OR=3.52 (95%CI 1.47–8.47).); planning to start work before the infant was 6months old, OR=0.35 (0.19–0.63). Conclusions: The PROLACT intervention in primary care is more efective than the usual practice for maintaining exclusive breastfeeding at 6months, and can therefore be considered evidence-based practice for implementation in standard practice. Trial registration: The trial was registered with ClinicalTrials.gov under code number NCT01869920 (03/06/2013).This study was funded by the Projects PI12/02609 and PI12/02020 as a part of the Plan Nacional de I+D+I (National Plan for R+D+I) and co-funded by the ISCIII Subdirectorate General for Evaluation and the European Regional Development Fund (ERDF). The primary researcher received a grant for publication from the Fundación para la Investigación e Innovacion en Atención Primaria (Foundation for Research and Innovation in Primary Care) in its 2019 call. The funding source had no role in the design of this study and did not have any role in its execution, analyses, interpretation of the data or the decision to submit the results.S

Grupo español de cirugía torácica asistida por videoimagen: método, auditoría y resultados iniciales de una cohorte nacional prospectiva de pacientes tratados con resecciones anatómicas del pulmón

Introduction: our study sought to know the current implementation of video-assisted thoracoscopic surgery (VATS) for anatomical lung resections in Spain. We present our initial results and describe the auditing systems developed by the Spanish VATS Group (GEVATS). Methods: we conducted a prospective multicentre cohort study that included patients receiving anatomical lung resections between 12/20/2016 and 03/20/2018. The main quality controls consisted of determining the recruitment rate of each centre and the accuracy of the perioperative data collected based on six key variables. The implications of a low recruitment rate were analysed for '90-day mortality' and 'Grade IIIb-V complications'. Results: the series was composed of 3533 cases (1917 VATS; 54.3%) across 33 departments. The centres' median recruitment rate was 99% (25-75th:76-100%), with an overall recruitment rate of 83% and a data accuracy of 98%. We were unable to demonstrate a significant association between the recruitment rate and the risk of morbidity/mortality, but a trend was found in the unadjusted analysis for those centres with recruitment rates lower than 80% (centres with 95-100% rates as reference): grade IIIb-V OR=0.61 (p=0.081), 90-day mortality OR=0.46 (p=0.051). Conclusions: more than half of the anatomical lung resections in Spain are performed via VATS. According to our results, the centre's recruitment rate and its potential implications due to selection bias, should deserve further attention by the main voluntary multicentre studies of our speciality. The high representativeness as well as the reliability of the GEVATS data constitute a fundamental point of departure for this nationwide cohort

Male breast cancer in BRCA1 and BRCA2 mutation carriers : pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Background: BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). Methods: We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database. Results: Among BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 x 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 x 10(-12)). Conclusions: On the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.Peer reviewe

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. Methods: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. Results: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. Conclusions: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.Peer reviewe

Aprendizaje colaborativo: Tutorías colaborativas y otras experiencias basadas en la cooperación y el apoyo mutuo entre estudiantes

Memoria del Proyecto de innovación Innova docencia de la convocatoria de 2019-20, consistente en la aplicación de una experiencia de aprendizaje colaborativo a partir de un sistema de tutorías colaborativas en 5 asignaturas de Grado de 4 facultades de la UCM. Asimismo, se realizó otra experiencia de trabajo colaborativo entre estudiantes y profesor en dos asignaturas del Máster Oficial en Comunicación Social de la UCM

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.Peer reviewe

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations