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1.
Crit Rev Oncol Hematol ; 165: 103430, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34339834

ABSTRACT

Diffuse large B-cell lymphoma (DLBCL), the most common type of Non-Hodgkin lymphoma (NHL), is a highly heterogeneous and aggressive disease. Regardless of this heterogeneity, all patients receive the same first-line therapy, which fails in 30-40 % of patients, who are either refractory or relapse after remission. With the aim of stratifying patients to improve treatment outcome, different clinical and genetic biomarkers have been studied. The present systematic review aimed to identify somatic mutations that could serve as prognosis biomarkers or as therapeutic target mutations in DLBCL. Regarding their role as prognostic markers, mutations in CD58 and TP53 seem the most promising predictors of poor outcome although the combination of different alterations and other prognostic factors could be a more powerful strategy. On the other hand, different approaches regarding targeted therapy have been proposed. Therefore, mutational analysis could help guide treatment choice in DLBCL yet further studies and clinical trials are needed.


Subject(s)
Lymphoma, Large B-Cell, Diffuse , Neoplasm Recurrence, Local , DNA Mutational Analysis , Humans , Lymphoma, Large B-Cell, Diffuse/diagnosis , Lymphoma, Large B-Cell, Diffuse/drug therapy , Lymphoma, Large B-Cell, Diffuse/genetics , Mutation , Prognosis
2.
Mol Neurobiol ; 58(1): 55-64, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32892277

ABSTRACT

Late-onset Alzheimer's disease (LOAD) is a neurodegenerative disorder of growing relevance in an aging society for which predictive biomarkers are needed. Many genes involved in LOAD are tightly controlled by microRNAs (miRNAs), which can be modulated by single-nucleotide polymorphisms (SNPs). Our aim was to determine the association between SNPs in miRNAs and LOAD. We selected all SNPs in pre-miRNAs with a minor allele frequency (MAF) > 1% and genotyped them in a cohort of 229 individuals diagnosed with LOAD and 237 unrelated healthy controls. In silico analyses were performed to predict the effect of SNPs on miRNA stability and detect downstream pathways. Four SNPs were associated with LOAD risk with a p value < 0.01 (rs74704964 in hsa-miR-518d, rs71363366 in hsa-miR-1283-2, rs11983381 in hsa-miR-4653, and rs10934682 in hsa-miR-544b). In silico analyses support a possible functional effect of those SNPs in miRNA levels and in the regulation of pathways of relevance for the development of LOAD. Although the results are promising, additional studies are needed to validate the association between SNPs in miRNAs and the risk of developing LOAD. Graphical abstract.


Subject(s)
Alzheimer Disease/genetics , Computer Simulation , Genetic Predisposition to Disease , Genome-Wide Association Study , MicroRNAs/genetics , Polymorphism, Single Nucleotide/genetics , Aged , Base Sequence , Female , Genotype , Humans , Male , MicroRNAs/chemistry , MicroRNAs/metabolism , Nucleic Acid Conformation , Risk Factors , Thermodynamics
3.
Mol Neurobiol ; 56(12): 8376-8391, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31240600

ABSTRACT

Late-onset Alzheimer's disease (LOAD) is a high-occurrence neurological disorder but the difficulty in identifying precise and early biomarkers has complicated the understanding of the disease and the development of new treatments. In this sense, important knowledge is emerging regarding novel molecular and biological candidates with diagnostic potential, including microRNAs (miRNAs), which have a key role in gene repression. The aim of this systematic review was to define the role of miRNAs' expression as biomarkers for LOAD both in brain tissues, which could help understand the biology of the disease, and circulating tissues, which could serve as non-invasive markers of the pathology. A systematic search was performed in Web of Science and PubMed using the keywords ((Alzheimer or Alzheimer's) and (microRNA or microRNAs or miRNA or miRNAs or miR)) until August 2018 to retrieve all articles that presented independent original data evaluating the impact of miRNA expression on the development of LOAD in human population. A total of 90 studies investigating the role of miRNAs' expression in the development of LOAD were identified. While other widely studied miRNAs such as hsa-miR-146a presented contradictory results among studies, deregulation in brain tissue of seven miRNAs, hsa-miR-16-5p, hsa-miR-34a-5p, hsa-miR-107, hsa-miR-125-5p, hsa-miR-132-3p, hsa-miR-181-3p, and hsa-miR-212-3p, was consistently identified in LOAD patients. Their role in the disease could be mediated through the regulation of key pathways, such as axon guidance, longevity, insulin, and MAPK signaling pathway. However, regarding their role as non-invasive biomarkers of LOAD in fluids, although the limited results available are promising, further studies are required.


Subject(s)
Alzheimer Disease/genetics , Gene Expression Regulation , MicroRNAs/genetics , Biomarkers/metabolism , Brain/pathology , Circulating MicroRNA/genetics , Circulating MicroRNA/metabolism , Humans , MicroRNAs/metabolism
4.
Univ. psychol ; 14(1): 189-204, ene.-mar. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-765716

ABSTRACT

Este estudio valida, a nivel confirmatorio, la escala de comportamiento ecológico que mide la realización de acciones que procuran proteger y/o conservar el medio ambiente y las escalas de las variables utilizadas en la literatura para explicar dicho comportamiento: el conocimiento medioambiental, las creencias asociadas a la preocupación ambiental, los valores y las intenciones de comportamiento ecológico. Sobre una muestra de 497 individuos en España, seleccionada por muestreo no probabilístico por cuotas, se analizan las propiedades psicométricas de las escalas mediante análisis factorial exploratorio y confirmatorio. Los resultados muestran el carácter multidimensional de las escalas de conocimiento (conocimiento básico [CB] y conocimiento experto [CEX]) y comportamiento ecológico (gestión ecológica de basuras [GEB] e implicación medioambiental [IM]) y unidimensional del resto de medidas. La validación a nivel confirmatorio de las escalas para las variables seleccionadas proporciona una importante contribución para futuros trabajos de investigación.


This study validates using confirmatory factor analysis the scale of ecological behavior, which measures the implementation of actions that intend to protect and/or preserve the environment, and the scales of variables used in literature in order to explain that behavior: environmental knowledge, beliefs associated with environmental awareness, values and ecological behavior intention. Using a sample of 497 individuals in Spain selected by non-probability quota sampling, the psychometric properties of the scales were analyzed by exploratory and confirmatory factor analysis. The results show the multidimensional nature of knowledge (basic knowledge -CB and expert knowledge -CEX) and environmental behavior (waste management -GEB and environmental implication -IM) scales and the one-dimensional nature of the rest of measures. The validation, using confirmatory factor analysis of the selected variables, provides an important contribution to future research.


Subject(s)
Ecology , Environment
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