Identification of chromosomal rearrangements in colorectal cancer

Curs 2014-2015Cancer research is continuously shedding light into these worldwide leading diseases. It is mandatory to have higher knowledge in cancer biology to consequently find out new candidate biomarkers and therapeutics. Among all of them, Colorectal cancer is the most commonly seen of human malignant cancers and has the third highest mortality rate[1]. Since the release of the first human genome sequence in 2004, new techniques have revolutionised the study of genetics and its possible applications. A broad type of studies has been carried out; being Single Nucleotide Polymorphisms and Copy Number Variants the most intensively studied analysis. However, other kinds of mutations involving larger parts of the genome, the so-called structural variants, have been substantially less analyzed due to technical limitations. High-throughput sequencing methods seem to have lowered these restrictions. In this study, gene fusions have been searched in whole exome sequencing samples taking 42 paired normal and cancer tissues. Beginning with short-read files obtained with the mentioned method, they have been aligned against a reference genome to later be analyzed with Breakdancer, a structural variant calling algorithm. After some filtering criteria performed in order to remove a high proportion of false positives, a highly probable list of 22 balanced structural variants (translocations and/or inversions) has been manually studied to get a final result of 20 chromosomal rearrangements, 8 of which are considered gene fusions. In addition, it has been found that one recurrent translocation seen in recent studies is indeed a false positive. Further studies taking into account these results may contribute to the findings of new biomarkers for certain subtypes of colorectal cancer.Director/a: Victor Moreno, co-director: Mireia Olivell

Phages in the human body

Bacteriophages, viruses that infect bacteria, have re-emerged as powerful regulators of bacterial populations in natural ecosystems. Phages invade the human body, just as they do other natural environments, to such an extent that they are the most numerous group in the human virome. This was only revealed in recent metagenomic studies, despite the fact that the presence of phages in the human body was reported decades ago. The influence of the presence of phages in humans has yet to be evaluated; but as in marine environments, a clear role in the regulation of bacterial populations could be envisaged, that might have an impact on human health. Moreover, phages are excellent vehicles of genetic transfer, and they contribute to the evolution of bacterial cells in the human body by spreading and acquiring DNA horizontally. The abundance of phages in the human body does not pass unnoticed and the immune system reacts to them, although it is not clear to what extent. Finally, the presence of phages in human samples, which most of the time is not considered, can influence and bias microbiological and molecular results; and, in view of the evidences, some studies suggest that more attention needs to be paid to their interference

La covid-19. El comportament epidèmic a Espanya

En el número 63-64 de la revista L'Espill trobaràs un dossier monogràfic sobre "Feminisme avui i demà", amb contribucions de Capitolina Diaz, Ingrid Lafita i Teresa Turiera-Puigbò Bergadà. A més, articles de Ferran Martínez Navarro, Josep Lluís Barona, Victor Maceda, Carles Cabrera, David Murillo i Manuel Alcaraz, així com documents de Gayatri Chakravorty Spivak i una conversa amb Burham Sömnez

Bacteriophages in clinical samples can interfere with microbiological diagnostic tools

Bacteriophages are viruses that infect bacteria, and they are found everywhere their bacterial hosts are present, including the human body. To explore the presence of phages in clinical samples, we assessed 65 clinical samples (blood, ascitic fluid, urine, cerebrospinal fluid, and serum). Infectious tailed phages were detected in >45% of ascitic fluid and urine samples. Three examples of phage interference with bacterial isolation were observed. Phages prevented the confluent bacterial growth required for an antibiogram assay when the inoculum was taken from an agar plate containing lysis plaques, but not when taken from a single colony in a phage-free area. In addition, bacteria were isolated directly from ascitic fluid, but not after liquid enrichment culture of the same samples, since phage propagation lysed the bacteria. Lastly, Gram-negative bacilli observed in a urine sample did not grow on agar plates due to the high densities of infectious phages in the sampl

Concatenación temporal de modelos espaciales y su aplicación al estudio de la meningitis en España

La cartografía de enfermedades infecciosas en periodos sucesivos plantea la necesidad de su extensión al caso dinámico. En este trabajo proponemos la concatenación temporal de modelos auto-regresivos espaciales para abordar el análisis de mortalidad por meningitis en España en el período 1950-1990 con datos agregados a nivel provincial. Para la estimación v selección del modelo usamos técnicas basadas en la función de verosimilitud

El uso de los medios audiovisuales en la adolescencia y su relación con el bienestar subjetivo : análisis cualitativo desde la perspectiva intergeneracional y de género1

El presente artículo expone los resultados de una investigación cualitativa que explora, desde la perspectiva intergeneracional y de género, de qué forma el uso de los medios audiovisuales influye en el bienestar subjetivo en la adolescencia. Se han realizado tres entrevistas grupales semi-estructuradas con chicas adolescentes (de 12 a 18 años) y dos con madres de chicos y chicas de estas edades. Los resultados avalan una vez más que las relaciones interpersonales son uno de los factores que en mayor medida contribuye en el bienestar de los y las adolescentes. Las chicas manifiestan que el uso de las tecnologías audiovisuales contribuye a su bienestar subjetivo porque les posibilita mantener las relaciones interpersonales con sus iguales. Las madres, en cambio, ponen en duda que un uso excesivo de las tecnologías pueda contribuir al bienestar subjetivo. Por otra parte, chicas y madres coinciden en comentar que el uso de las tecnologías dificulta las relaciones de los adolescentes con sus progenitores.This paper presents the results of a qualitative research that explores, from an intergenerational and gender perspective, how the use of audiovisual media influences to personal well-being in adolescence. Three, semi-structured group interviews were used with adolescent girls (aged 12 to 18 years), and two with mothers of boys and girls of those ages. The results show that interpersonal relationships are one of the factors that greatly contribute to the adolescents' wellbeing. Girls said that the use of technology generates personal well-being because it allows them to maintain interpersonal relationships with their peers. The mothers, however, question whether overuse of technology can contribute to their personal well-being. On the other hand, girls and mothers agree to comment that the use of technology hinders the relationships that adolescents have with their parents

María Isabel Porras Gallo, María José Báguena Cervellera, Mariano Ayarzagúena Sanz y Noelia María Martín Espinosa, coords. La erradicación y el control de las enfermedades infecciosas. Madrid : Libros de la Catarata; 2018, 272 p. ISBN: 978-84-9097-201-4

Obra ressenyada: María Isabel PORRAS GALLO, María José BÁGUENA CERVELLERA, Mariano AYARZAGÚENA SANZ y Noelia María MARTÍN ESPINOSA (coords.), La erradicación y el control de las enfermedades infecciosas. Madrid : Libros de la Catarata, 2018

MorbiNet study. Hypothyroidism comorbidity networks in the adult general population

Purpose: Multimorbidity impacts quality of life. We constructed hypothyroidism comorbidity networks to identify positive and negative associations with other prevalent diseases. Methods: We analyzed data of 285,342 patients with hypothyroidism from 3,135,948 adults with multimorbidity in a population-based study in Catalonia, Spain, (period: 2006-2017). We constructed hypothyroidism comorbidity networks using logistic regression models, adjusted by age and sex, and for men and women separately. We considered relevant associations those with odds ratios (OR) >1.2 or <0.8 and p-value <1e-5 to identify coexistence greater (or smaller) than the expected by the prevalence of diseases. Multivariate models considering comorbidities were used to further adjust OR values. Results: The conditions associated included larynx cancer (adjusted OR: 2.48); congenital anomalies (2.26); thyroid cancer (2.13); hyperthyroidism (1.66), vitamin B12/folate deficiency anemia (1.57), and goiter (1.56). The network restricted to men had more connections (mental, cardiovascular, and neurological) and stronger associations with thyroid cancer (7.26 vs 2.55), congenital anomalies (5.11 vs 2.13), hyperthyroidism (4.46 vs 1.69), larynx cancer (3.55 vs 1.67), and goiter (3.94 vs 1.64). After adjustment for comorbidities, OR values were more similar in men and women. The strongest negative associations after adjusting for comorbidities were with HIV/AIDS (OR:0.71), and tobacco abuse (0.77). Conclusions: Networks show direct and indirect hypothyroidism multimorbidity associations. The strongest connections were thyroid and larynx cancer, congenital anomalies, hyperthyroidism, anemia, and goiter. Negative associations included HIV infection-AIDS and tobacco abuse. The network restricted to men had more and stronger associations, but not after adjusting for comorbidities suggesting important indirect interactions

Comparative analysis of thermoplastic masks versus vacuum cushions in stereotactic body radiotherapy

Background: To compare thermoplastic masks (TMP) and vacuum cushion system (VCS) to assess differences in interfraction set up accuracy in patients treated with stereotactic radiotherapy (SBRT) for oligometastatic lung cancer. Secondarily, to survey radiotherapy technologists to assess their satisfaction with the two systems. Methods: Retrospective study of patients treated with lung SBRT between 2008 to 2012 at our institution. Immobilization was performed for 73 treatment sessions (VCS = 40; TMP = 33). A total of 246 cone-beams were analysed. Patients considered ineligible for surgery with a life expectancy ≥6 months and performance status > 1 were included. Target lesion location was verified by cone beam computed tomography (CBCT) prior to each session, with displacements assessed by CBCT simulation prior to each treatment session. Couch shifts were registered prospectively in vertical, longitudinal, and latero-lateral directions to obtain Kernel coordinates (3D representation). Technologists were surveyed to assess their satisfaction with indexing, positioning, and learning curve of the two systems. Setup displacements were obtained in all patients for each treatment plan and for each session. To assess differences between the immobilization systems, a t-test (Welch) was performed. Results: Mean displacements for the TMP and VC systems, respectively, were as follows: session one, 0.64 cm vs 1.05 cm (p = 0.0002); session two, 0.49 cm vs 1.02 cm (p < 0.0001), and session three, 0.56 vs 0.97 cm (p = 0.0011). TMP resulted in significantly smaller shifts vs. VCS in all three treatment sessions. Technologists rated the learning curve, set up, and positioning more highly for TMP versus VCS. Conclusions: Due to the high doses and steep gradients in lung SBRT, accurate and reproducible inter-fraction set up is essential. We found that thermoplastic masks offers better reproducibility with significantly less interfractional set up displacement than vacuum cushions. Moreover, radiotherapy technologists rated the TMP system higher. Taken together, these two findings suggest that TMP may be preferable to VCS. However, more research is needed to determine both inter- and intrafraction error to identify the optimal immobilisation system for use in lung SBRT