Forensic implications of the presence of chimerism after hematopoietic stem cell transplantation

Biological vestiges are used in forensic science to resolve a large number of cases by typing the genetic profile and identifying the individual to whom it belongs. However, chimeric persons that possess cells with two or more different DNA make these types of analyses difficult. This situation can occur naturally, by errors in the fertilization or early embryogenesis, or in an artificial way, for example after hematopoietic stem cell transplantation (HSCT), when host and donor cells coexist in the patient. In this paper, we will specially focus on the latter. The vestiges from transplant patients represent a challenge from a forensic perspective since the interpretation of the genetic fingerprint can be misleading because of the presence of chimerism. Due to the high number of transplant patients (and their increase over the years) and the existence of natural chimeras (probably many of them hidden), it is necessary to consider whether we are facing a possible chimeric person or someone who has been a donor of hematopoietic stem cells in a forensic context. In this review, the presence of donor bone marrow derived cells in some tissues of forensic interest will be discussed. Finally, to emphasize the importance of chimerism after HSCT in forensic genetics, some real-life cases will be examined

The genetic profile of bone marrow transplanted patients in different vestiges of forensic interest

The coexistence of cells with different genetic origins (donor and recipient) in a patient after receiving a hematopoietic stem cell transplantation (HSCT) is called chimerism. The study of chimerism after HSCT allows physicians to know the success or failure of the transplant, to predict the possibility of a relapse and to apply the opportune therapy. Due to the transdifferentiation capacity of hematopoietic stem cells (HSC) in non-hematological tissues, the vestiges from transplanted patients represent a challenge from a forensic perspective, since the interpretation of the genetic fingerprint can be misleading because of the presence of chimerism. The objective of this study is to examine the genetic profile in samples of forensic interest (nail and skin epithelial cells) of bone marrow transplanted patients and discuss the forensic and clinical implications. An observational and descriptive study has been developed in which the genetic profile of nail, epidermal cells and blood samples of patients receiving HSCT has been analyzed by the amplification and sequencing of 38 insertion/deletion polymorphisms (InDels) and 15 short tandem repeat polymorphisms (STRs). In this analysis, the age of patients and donors, the months elapsed from transplantation, the type of conditioning prior to the transplant and whether the patient has suffered graft-versus-host disease (GVHD) have been considered. Finally, the results obtained using the two identification techniques (InDels and STRs) have been compared in blood samples. The results indicate that chimerism can be detected in the DNA extracted from nail and skin epithelial cells of transplanted patients. The percentage of cells with donor DNA in nail and skin increases with time elapsed from the bone marrow transplantation, but the age of the patient or the donor, the type of conditioning and the presence of GVHD do not influence the proportion of chimerism. Finally, it has been found that, in blood samples of transplanted patients, the use of InDels and STRs for the calculation of chimerism can be used to achieve equivalent results.Human beings constantly lose epithelial cells, and these biological traces are frequently studied in the context of criminal investigation. In view of these results, it can be concluded that within a judicial context (e.g. when testifying as an expert witness) it is necessary to consider whether we are facing a possible transplanted patient or a person who has been a bone marrow donor.Máster en Biología Molecular y Biomedicin

Knowledge integration strategies for untargeted metabolomics based on MCR-ALS analysis of CE-MS and LC-MS data

In this work, two knowledge integration strategies based on multivariate curve resolution alternating least squares (MCR-ALS) were used for the simultaneous analysis of data from two metabolomic platforms. The benefits and the suitability of these integration strategies were demonstrated in a comparative study of the metabolite profiles from yeast (Saccharomyces cerevisiae) samples grown in non-fermentable (acetate) and fermentable (glucose) carbon source. Untargeted metabolomics data acquired by capillary electrophoresis-mass spectrometry (CE-MS) and liquid chromatography-mass spectrometry (LC-MS) were jointly analysed. On the one hand, features obtained by independent MCR-ALS analysis of each dataset were joined to obtain a biological interpretation based on the combined metabolic network visualization. On the other hand, taking advantage of the common spectral mode, a low-level data fusion strategy was proposed merging CE-MS and LC-MS data before the MCR-ALS analysis to extract the most relevant features for further biological interpretation. Then, results obtained by the two presented methods were compared. Overall, the study highlights the ability of MCR-ALS to be used in any of both knowledge integration strategies for untargeted metabolomics. Furthermore, enhanced metabolite identification and differential carbon source response detection were achieved when considering a combination of LC-MS and CE-MS based platforms. © 2017 Elsevier B.V.This research has received funding from the European Research Council under the European Union's Seventh Framework Programme (FP/2007-2013)/ERC Grant Agreement n. 320737. Some part of this study was also supported by a grant from the Spanish Ministry of Economy and Competitiveness (CTQ2014-56777-R and CTQ2015-66254). Also, recognition from the Catalan government (grant 2014 SGR 1106) is acknowledged.Peer reviewe

Metabolic disruption of zebrafish (Danio rerio) embryos by bisphenol A. An integrated metabolomic and transcriptomic approach

Although bisphenol A (BPA) is commonly recognized as an endocrine disruptor, the metabolic consequences of its exposure are still poorly understood. In this study, we present a non-targeted LC-MS based metabolomic analysis in combination with a full-genome, high-throughput RNA sequencing (RNA-Seq) to reveal the metabolic effects and the subjacent regulatory pathways of exposing zebrafish embryos to BPA during the first 120 hours post-fertilization. We applied multivariate data analysis methods to extract biochemical information from the LC-MS and RNA-Seq complex datasets and to perform testable predictions of the phenotypic adverse effects. Metabolomic and transcriptomic data revealed a similar subset of altered pathways, despite the large difference in the number of identified biomarkers (around 50 metabolites and more than 1000 genes). These results suggest that even a moderate coverage of zebrafish metabolome may be representative of the global metabolic changes. These multi-omic responses indicate a specific metabolic disruption by BPA affecting different signaling pathways, such as retinoid and prostaglandin metabolism. The combination of transcriptomic and metabolomic data allowed a dynamic interpretation of the results that could not be drawn from either single dataset. These results illustrate the utility of -omic integrative analyses for characterizing the physiological effects of toxicants beyond the mere indication of the affected pathways. © 2017 Elsevier LtdThis work was supported by the European Research Council under the European Union's Seventh Framework Programme (FP/ 2007-2013)/ERC Grant Agreement n. 320737. Some part of this study was also supported by a grant from the Spanish Ministry of Economy and Competitiveness (CTQ2014-56777-R). LNM was supported by a Beatriu de Pinos Postdoctoral Fellow (2013BP-B- 00088) awarded by the Secretary for Universities and Research of the Ministry of Economy and Knowledge of the Government of Catalonia and the Cofund programme of the Marie Curie Actions of the 7th R&D Framework Programme of the European Union.Peer reviewe

Boletín informativo de lenguas

Resumen tomado del artículoEste artículo se centra en una de las propuestas que se planifican y se realizan en el aula con una periodicidad variable. En este caso, una salida al zoo. Su preparación genera en sí misma una secuencia didáctica propia de los pequeños proyectos. Las autoras están participando de un recorrido de formación en el CPR de Villaverde, centrado en los aportes que han dado las investigaciones constructivistas a las estrategias de enseñanza relacionadas con el conocimiento de la lengua escrita. Dada esta realidad, en este espacio, y como parte de su propia formación, el equipo hace mayor hincapié en situaciones donde se expresa el aprendizaje del lenguaje escrito que están siguiendo los alumnos.MadridBiblioteca de Educación del Ministerio de Educación, Cultura y Deporte; Calle San Agustín, 5 - 3 Planta; 28014 Madrid; Tel. +34917748000; [email protected]

Activación de la inteligencia mediante la música y las artes plásticas usando bits

El proyecto consiste en la estimulación temprana del cerebro de los niños de Educación Infantil, con lo que se pretende incidir en la disminución de las dificultades de aprendizaje y en el fracaso escolar. Los objetivos son apoyar el potencial de aprendizaje de los niños y elevar su autoestima; facilitar la construcción del aprendizaje mediante asociación y razonamiento de lo conocido; crear ambientes comunicativos y segurizantes; provocar deseos, emociones e intenciones; inducir inquietudes expresividades y encuentros. La metodología consiste en presentar a los niños bits de inteligencia que se agrupan en series relacionadas y que se cambian cada quince días según los contenidos del curriculo. Por otro lado, se realizan audiciones de música precedidas de informaciones de carácter cultural. El sistema de bits de inteligencia se aplica también al área de Conocimiento del Medio en el tercer ciclo de Primaria. Las actividades consisten, además de las unidades didácticas propias de las distintas áreas de Educación Infantil, y algunas de Primaria, en la construcción de instrumentos sencillos y la utilización artístico-musical de material de desecho. Otras actividades son las audiciones acompañadas de láminas, transparencias, musicogramas y visionado de vídeos y la utilización de material multimedia. La evaluación de la metodología empleada responde a los estímulos del niño, a la guía de la profesora y a una mayor atención, concentración y dirección de la motivación. Es una herramienta eficaz para la adquisición de vocabulario para niños que no leen, desarrolla la creatividad del niño y el aprendizaje de otras materias.Madrid (Comunidad Autónoma). Consejería de EducaciónMadridMadrid (Comunidad Autónoma). Subdirección General de Formación del Profesorado. CRIF Las Acacias; General Ricardos 179 - 28025 Madrid; Tel. + 34915250893ES