235 research outputs found
Estudio de la Estenosis Aórtica Valvular desde un punto de vista proteómico
Comunicaciones a congreso
Identification of protein expressed by aortic stenosis valves in the search for novel biomarkers
Comunicaciones a congreso
Aproximación a la patogenia de la aterosclerosis.Análisis del secretoma de arterias humanas sanas y con distintos grados de afección
Comunicaciones a congreso
Linfadenitis tuberculosa en niños: Revisión sistemática de reportes de caso
Objective: To conduct a systematic review of tuberculous lymphadenitis cases in children published until April 2022. Material and methods: Case reports of tuberculous lymphadenitis by M. tuberculosis in children were searched in Scopus, PubMed, Science Direct, Web of Science, LILACs, Ovid MEDLINE, EBSCO, and BMC Case Reports databases. Results: Forty-one reports were selected and a total of 46 patients were included. The majority were males (52,2%) of 8,5 (5-12) years old. The time of disease was 2 (1-5) months. The most frequent clinical manifestations were palpable lymphadenopathy (60,9%), fever (52,2%) and cough (26,1%). Weight loss (17,4%), scrofula (15,2%), respiratory distress (13%), hyporexia (13%), localized pain (13%), skin rash (13%), night sweats (4.3%), abdominal pain (4.3%) and jaundice (2,2%) were also founded. Cervical nodes were most frequently involved (71,4%). Only 17,4% were associated with lung involvement. PPD was positive in 77.1%, bacilloscopy in 17.2%, histopathology in 94,1% and culture in 58,8%. Conclusions: Tuberculous lymphadenitis in children was more frequent in boys, between 5 and 12 years, immunized by BCG and without known contact with tuberculosis. The principal symptoms were palpable lymphadenopathy, fever and cough. However, atypical symptoms were respiratory difficulty, localized pain, skin rash, abdominal pain, and jaundice. Cervical nodes were the most affected. The test with greatest sensitivity was the histopathological study which detected 94,1% of cases.Objetivo: Realizar una revisión sistemática de casos de linfadenitis tuberculosa en niños publicados en la literatura hasta abril de 2022. Material y Métodos: Se buscó reportes de casos de linfadenitis tuberculosa por M. tuberculosis en niños, en las bases de datos de Scopus, PubMed, Science Direct, Web of Science, LILACs, Ovid MEDLINE, EBSCO y BMJ Case Reports. Resultados: Se seleccionó 41 reportes, que informaron 46 pacientes. La mayoría fueron varones (52,2%), de 8,5 (5-12) años, con tiempo de enfermedad de 2 (1-5) meses. Las manifestaciones clínicas más frecuentes fueron linfadenopatía palpable (60,9%), fiebre (52,2%) y tos (26,1%). También se encontró pérdida de peso (17,4%), escrófula (15,2%), dificultad respiratoria (13%), hiporexia (13%), dolor localizado (13%), exantema cutáneo (13%), sudoración nocturna (4,3%), dolor abdominal (4,3%) e ictericia (2,2%). Los ganglios cervicales fueron los más comprometidos (71,4%). Solo 17,4% tuvo compromiso pulmonar asociado. El PPD fue positivo en 77,1%, la baciloscopia en 17,2%, la histopatología en 94,1% y el cultivo en 58,8%. Conclusiones: La linfadenitis tuberculosa en niños fue más frecuente en varones, entre 5 y 12 años, inmunizados por BCG y sin contacto conocido de tuberculosis. Los síntomas más frecuentes fueron linfadenopatía palpable, fiebre y tos. Además, se presentaron cuadros atípicos con dificultad respiratoria, dolor localizado, exantema cutáneo, dolor abdominal e ictericia. Los ganglios cervicales fueron los más afectados. El estudio histopatológico fue la prueba con mayor sensibilidad diagnóstica detectando el 94,1% de casos
Genotyping squamous cell lung carcinoma in Colombia (Geno1.1-CLICaP)
Background: Lung cancer is a public health problem, and squamous cell carcinoma (SCC) is the second most prevalent subtype of this neoplasm. Compared to other subtypes, including adenocarcinoma, SCC is less well understood in terms of molecular pathogenesis, limiting therapeutic options among targeted agents approved for other disease subgroups. In this study, we sought to characterize the SCC genomic profile using a validated Next Generation Sequencing (NGS) platform.
Methods: The comprehensive NGS assay (TruSight Tumor 170) was used in order to target the full coding regions of 170 cancer-related genes on SCC samples. PD-L1 expression in tumor cells (TCs) was assessed using clone 22C3 (Dako). Clinical outcomes were correlated with molecular profile, including progression free survival (PFS), overall response rate (ORR), and overall survival (OS).
Results: A total of 26 samples were included, median age was 67 years (r, 33–83) and 53.8% were men. Tobacco consumption was identified in all subjects (mean 34-year package). For first-line treatment 80.8% of patients received cisplatin or carboplatin plus gemcitabine. In terms of molecular profile, we identified a high prevalence of inactivating mutations in TP53 (61.5%), PIK3CA (34.6%), MLL2 (34.6%), KEAP1 (38.4%), and NOTCH1 (26.9%). PD-L1 expression ranged from negative, 1, 2–49, and ≥50% in 23.1, 38.5, 26.9, and 11.5%, respectively. Interestingly, the genetic alterations did not have an effect in PFS, OS or ORR in this study. However, PDL1 expression was higher among those who had mutations in TP53 (p = 0.037) and greater expression of PDL1 was related to PIK3CA alterations (p = 0.05).
Conclusions: The genomic profile of SCC encompasses important genes including TP53, PIK3CA and KEAP1. TP53 mutations could be associated with PDL1 expression, generating hypothesis regarding specific treatment options
Twitter as a Tool for Teaching and Communicating Microbiology: The #microMOOCSEM Initiative
Online social networks are increasingly used by the population on a daily basis. They are considered a powerful tool for science communication and their potential as educational tools is emerging. However, their usefulness in academic practice is still a matter of debate. Here, we present the results of our pioneering experience teaching a full Basic Microbiology course via Twitter (#microMOOCSEM), consisting of 28 lessons of 40-45 minutes duration each, at a tweet per minute rate during 10 weeks. Lessons were prepared by 30 different lecturers, covering most basic areas in Microbiology and some monographic topics of general interest (malaria, HIV, tuberculosis, etc.). Data analysis on the impact and acceptance of the course were largely affirmative, promoting a 330% enhancement in the followers and a >350-fold increase of the number of visits per month to the Twitter account of the host institution, the Spanish Society for Microbiology. Almost one third of the course followers were located overseas. Our study indicates that Massive Online Open Courses (MOOC) via Twitter are highly dynamic, interactive, and accessible to great audiences, providing a valuable tool for social learning and communicating science. This strategy attracts the interest of students towards particular topics in the field, efficiently complementing customary academic activities, especially in multidisciplinary areas like Microbiology.Versión del edito
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality
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
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