Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.

Liquid biopsy, a minimally invasive approach for detecting tumor biomarkers in blood, has emerged as a leading-edge technique in cancer precision medicine. New evidence has shown that liquid biopsies can incidentally detect pathogenic germline variants (PGVs) associated with cancer predisposition, including in patients with a cancer for which genetic testing is not recommended. The ability to detect these incidental PGV in cancer patients through liquid biopsy raises important questions regarding the management of this information and its clinical implications. This incidental identification of PGVs raises concerns about cancer predisposition and the potential impact on patient management, not only in terms of providing access to treatment based on the tumor molecular profiling, but also the management of revealing genetic predisposition in patients and families. Understanding how to interpret this information is essential to ensure proper decision-making and to optimize cancer treatment and prevention strategies. In this review we provide a comprehensive summary of current evidence of incidental PGVs in cancer predisposition genes identified by liquid biopsy in patients with cancer. We critically review the methodological considerations of liquid biopsy as a tool for germline diagnosis, clinical utility and potential implications for cancer prevention, treatment, and research.

Lipidomic Analysis Reveals Differences in Bacteroides Species Driven Largely by Plasmalogens, Glycerophosphoinositols and Certain Sphingolipids.

There has been increasing interest in bacterial lipids in recent years due, in part, to their emerging role as molecular signalling molecules. Bacteroides thetaiotaomicron is an important member of the mammalian gut microbiota that has been shown to produce sphingolipids (SP) that pass through the gut epithelial barrier to impact host SP metabolism and signal into host inflammation pathways. B. thetaiotaomicron also produces a novel family of N-acyl amines (called glycine lipids) that are potent ligands of host Toll-like receptor 2 (TLR2). Here, we specifically examine the lipid signatures of four species of gut-associated Bacteroides. In total we identify 170 different lipids, and we report that the range and diversity of Bacteroides lipids is species specific. Multivariate analysis reveals that the differences in the lipid signatures are largely driven by the presence and absence of plasmalogens, glycerophosphoinositols and certain SP. Moreover, we show that, in B. thetaiotaomicron, mutations altering either SP or glycine lipid biosynthesis result in significant changes in the levels of other lipids, suggesting the existence of a compensatory mechanisms required to maintain the functionality of the bacterial membrane.

Infección congénita por CMV en recién nacidos hijos de madre con infección por VIH / Congenital cytomegalovirus infection in newborns born to HIV-infected mothers

Introducción: La infección congénita por CMV (CMVc) es más frecuente en hijos expuestos al. VIH durante la gestación, con tasas reportadas en la era pre-TAR del 2 al 7%. El control de la carga viral de VIH y la recuperación inmunológica asociada al tratamiento antirretroviral (TAR) podrían ser factores que influyan en su transmisión. El objetivo de este trabajo fue describir la epidemiología de la infección CMVc en recién nacidos expuestos al VIH en el Hospital Universitario 12 de Octubre, entre los años 2000-2017. Material y métodos: Estudio observacional y retrospectivo. Se recogieron variables epidemiológicas y clínicas a través de la historia clínica de los sujetos incluidos. Se realizó análisis estadístico con el programa informático SPSS 24.0. Resultados: Se incluyeron 288 pares de madres/hijos. Observamos una tasa de CMVc del 2,1% (IC 95% 0,7-4,9). Conclusiones: La tasa de CMVc fue menor a la comunicada en la era pre-TAR, aunque aún parece superior a la observada en niños no expuestos al VIH.(AU)

Introduction: Congenital citomegalovirus (CMVc) infection is more common in children exposed to HIV during pregnancy, with reported rates in pre-ART era from 2 to 7%. The use of combined antiretroviral treatment (ARTc) could be a determining factor in reducing this risk of CMV transmission. The aim of this study was to describe the epidemiology of CMVc infection in newborns of HIV-infected mothers at Hospital Universitario 12 de Octubre, Madrid, Spain, from 2000 to 2017. Material and methods: An observational and retrospective study was carried out. Epidemiological and clinical variables were collected. Statistical analysis was performed with the SPSS 24.0 computer program. Results: 288 mother–infant pairs were included in the study. We observed a CMVc rate of 2.1% (95% CI 0.9–4.9). Conclusions: The rate of CMVc in HIV-exposed children observed was lower than that reported in pre-ARTc era but seems higher than those described in general population.(AU)

Congenital cytomegalovirus infection in newborns born to HIV-infected mothers.

INTRODUCTION: Congenital citomegalovirus (CMVc) infection is more common in children exposed to HIV during pregnancy, with reported rates in pre-ART era from 2 to 7%. The use of combined antiretroviral treatment (ARTc) could be a determining factor in reducing this risk of CMV transmission. The aim of this study was to describe the epidemiology of CMVc infection in newborns of HIV-infected mothers at Hospital Universitario 12 de Octubre, Madrid, Spain, from 2000 to 2017. MATERIAL AND METHODS: An observational and retrospective study was carried out. Epidemiological and clinical variables were collected. Statistical analysis was performed with the SPSS 24.0 computer program. RESULTS: 288 mother-infant pairs were included in the study. We observed a CMVc rate of 2.1% (95% CI 0.9-4.9). CONCLUSIONS: The rate of CMVc in HIV-exposed children observed was lower than that reported in pre-ARTc era but seems higher than those described in general population.

Diagnostic incidence of the presence of positive HBsAg: epidemiologic, clinical, and virological characteristics.

OBJECTIVE: To analyze the epidemiological, clinical, and virological characteristics of patients newly diagnosed with active hepatitis B virus (HBV) infection based on the presence of positive hepatitis B surface antigen (HBsAg) in the digestive diseases department of a district hospital. PATIENTS AND METHODS: We performed a 3-year prospective study in patients newly diagnosed with HBV infection. We analyzed epidemiological, clinical, and virological characteristics, complete HBV markers, quantification of HBV DNA, and infection by hepatitis delta virus. We performed genotyping and resistance testing in patients with a high viral load. Results were obtained for patientswho required liver biopsy. RESULTS: We diagnosed 213 patients (18.8/10,000 inhabitants/year). Men accounted for 61%, and 59% were aged 20 to 40 years. Immigrants accounted for 53% of the population: 46% were from Rumania and 37% from Sub-Saharan African countries. At diagnosis, 2.3% had acute hepatitis (all with jaundice) and 3.3% had cirrhosis with portal hypertension. With the exception of cases of acute hepatitis, positive HBeAg was observed in 9%. Serum transaminase levels were normal in 62.2% of patients, HBV DNA was > 2,000 IU/mL in 33.8%, and delta virus was present in 3.3%. Genotyping and resistance testing were performed in 70 patients: the most common genotype was D, followed by A. Resistance was detected at baseline in only 2 cases: to adefovir in one case and to entecavir in another. Among the 36 biopsies performed, 32.4% showed inflammatory activity > or = 2, and 23.5% had fibrosis > or = 2 according to the METAVIR scoring system. According to clinical practice, specific treatment for HBV infection was necessary (any reason) in 17.4% of those diagnosed (3 patients per 100,000 inhabitants/year). CONCLUSIONS: Despite prevention and vaccination, HBV infection is a health problem that most commonly affects the immigrant population and men. Serum transaminase levels are normal in 62.2% of patients. The most frequent genotype is D, followed by A, and baseline resistance is scarce.

Incidencia diagnóstica de AgHBs positivo. Características epidemiológicas, clínicas y virológicas / Diagnostic incidence of the presence of positive HBsAg: epidemiologic, clinical, and virological characteristics

Objetivo: analizar las características epidemiológicas, clínicas y virológicas de los pacientes que han sido nuevos diagnósticos de infección activa por VHB, por la presencia de AgHBs positivo, en el servicio de Aparato Digestivo de un hospital de área. Pacientes y métodos: se trata de un estudio prospectivo realizado durante 3 años, en pacientes de nuevo diagnóstico de infección por VHB, donde se han analizado las características epidemiológicas, clínicas, marcadores completos de VHB, cuantificación de DNAVHB e infección por virus Delta. En los pacientes con alta carga viral se han estudiado genotipos y resistencias. En los pacientes con indicación de biopsias hepáticas sus resultados. Resultados: se han diagnosticado 213 pacientes, 18,8/10.000 habitantes y año. El 61% son varones, el 59% con edad comprendida entre 20 y 40 años. El 53% corresponde a población inmigrante, 46% procedentes de Rumanía y 37% de países subsaharianos. En el momento del diagnóstico, el 2,3% tenían una hepatitis aguda, todos los casos con ictericia, y el 3,3% una cirrosis hepática con hipertensión portal. El AgHBe positivo, descontando los cuadros de hepatitis aguda, estaba presente en el 9%. Las transaminasas eran normales en el 62,2%, el DNA-VHB en el 33,8% es superior a 2.000 UI/ml y la asociación del virus Delta está presente en el 3,3%. En 70 pacientes se analiza el genotipo y resistencias, siendo el más frecuente el D, seguido del A; solo se han detectado dos resistencias basales, una a adefovir y otro a entecavir. En las 36 biopsias hepáticas realizadas, el 32,4% tenían una actividad inflamatoria mayor o igual a 2, y el 23,5% una fibrosis igual o superior a 2, valorada según la clasificación de METAVIR. El 17,4% de los diagnosticados ha precisado tratamiento específico para el VHB según práctica clínica por algún motivo, lo que ha supuesto iniciar tratamiento a unos 3 pacientes por cada 100.000 habitantes y año. Conclusión: a pesar de la prevención y vacunación, la infección por VHB es un problema de salud, afecta de forma más frecuente a población inmigrante, varones y cursa en el 62,2% con transaminasas normales. El genotipo más frecuente es el D seguido del A y las resistencias basales son escasas(AU)

Objective: to analyze the epidemiological, clinical, and virological characteristics of patients newly diagnosed with active hepatitis B virus (HBV) infection based on the presence of positive hepati - tis B surface antigen (HBsAg) in the digestive diseases department of a district hospital. Patients and methods: we performed a 3-year prospective study in patients newly diagnosed with HBV infection. We analyzed epidemiological, clinical, and virological characteristics, complete HBV markers, quantification of HBV DNA, and infection by hepatitis delta virus. We performed genotyping and resistance testing in patients with a high viral load. Results were obtained for patients who required liver biopsy. Results: we diagnosed 213 patients (18.8/10,000 inhabitants/ year). Men accounted for 61%, and 59% were aged 20 to 40 years. Immigrants accounted for 53% of the population: 46% were from Rumania and 37% from Sub-Saharan African countries. At diagnosis, 2.3% had acute hepatitis (all with jaundice) and 3.3% had cirrhosis with portal hypertension. With the exception of cases of acute hepatitis, positive HBeAg was observed in 9%. Serum transaminase levels were normal in 62.2% of patients, HBV DNA was > 2,000 IU/mL in 33.8%, and delta virus was present in 3.3%. Genotyping and resistance testing were performed in 70 patients: the most common genotype was D, followed by A. Resistance was detected at baseline in only 2 cases: to adefovir in one case and to entecavir in another. Among the 36 biopsies performed, 32.4% showed inflammatory activity >= 2, and 23.5% had fibrosis >= 2 according to the METAVIR scoring system. According to clinical practice, specific treatment for HBV infection was necessary (any reason) in 17.4% of those diagnosed (3 patients per 100,000 inhabitants/year). Conclusions: despite prevention and vaccination, HBV infection is a health problem that most commonly affects the immigrant population and men. Serum transaminase levels are normal in 62.2% of patients. The most frequent genotype is D, followed by A, and baseline resistance is scarce(AU)

El modelo SciELO y su contribución a la difusión de las revistas de ciencias de la salud españolas / The SciELO model and its contribution to the dissemination of Spanish scientific health care journals

Se describe el modelo de publicación electrónica SciELO (Scientific Electronic Library Online), la metodología desarrollada y los criterios de calidad exigidos para la selección de las revistas, así como su origen, evolución y aplicación en diferentes países de Europa, América Latina y el Caribe. Se incluyen también las principales características que ofrece la navegación en la colección de revistas de SciELO España. Se concluye afirmando que dicho modelo contribuye al desarrollo de la investigación, aumentando la difusión de la producción científica, evaluando sus resultados y mejorando la calidad de las publicaciones. (AU)