77 research outputs found
GRASSP: a spectrograph for the study of transient luminous events
We present the main parameters, design features, and optical characterization of the Granada Sprite Spectrograph and Polarimeter (GRASSP), a ground- based spectrographic system intended for the analysis of the spectroscopic signature of transient luminous events (TLEs) occurring in the mesosphere of the Earth. It has been designed to measure the spectra of the light emitted from TLEs with a mean spectral resolution of 0.235 nm and 0.07 nm/px dispersion in the wavelength range between 700 and 800 nm. (C) 2016 Optical Society of AmericaSpanish Ministry of Science and Innovation, Ministerio de Economia y Competitividad (MINECO) (ESP2013-48032-C5-5-R, ESP2015-69909-C5-2-R, FIS2014-61774-EXP); European Union FEDER Program; Ramon y Cajal Contract (RYC-2011-07801).Peer reviewe
Nanopore Sequencing Enables Comprehensive Transposable Element Epigenomic Profiling
Transposable elements (TEs) drive genome evolution and are a notable source of pathogenesis, including cancer. While CpG methylation regulates TE activity, the locus-specific methylation landscape of mobile human TEs has to date proven largely inaccessible. Here, we apply new computational tools and long-read nanopore sequencing to directly infer CpG methylation of novel and extant TE insertions in hippocampus, heart, and liver, as well as paired tumor and non-tumor liver. As opposed to an indiscriminate stochastic process, we find pronounced demethylation of young long interspersed element 1 (LINE-1) retrotransposons in cancer, often distinct to the adjacent genome and other TEs. SINE-VNTR-Alu\ua0(SVA) retrotransposons, including their internal tandem repeat-associated CpG island, are near-universally methylated. We encounter allele-specific TE methylation and demethylation of aberrantly expressed young LINE-1s in normal tissues. Finally, we recover the complete sequences of tumor-specific LINE-1 insertions and their retrotransposition hallmarks, demonstrating how long-read sequencing can simultaneously survey the epigenome and detect somatic TE mobilization
Heritable L1 retrotransposition in the mouse primordial germline and early embryo
LINE-1 (L1) retrotransposons are a noted source of genetic diversity and disease in mammals. To expand its genomic footprint, L1 must mobilize in cells that will contribute their genetic material to subsequent generations. Heritable L1 insertions may therefore arise in germ cells and in pluripotent embryonic cells, prior to germline specification, yet the frequency and predominant developmental timing of such events remain unclear. Here, we applied mouse retrotransposon capture sequencing (mRC-seq) and whole-genome sequencing (WGS) to pedigrees of C57BL/6J animals, and uncovered an L1 insertion rate of ≥1 event per eight births. We traced heritable L1 insertions to pluripotent embryonic cells and, strikingly, to early primordial germ cells (PGCs). New L1 insertions bore structural hallmarks of target-site primed reverse transcription (TPRT) and mobilized efficiently in a cultured cell retrotransposition assay. Together, our results highlight the rate and evolutionary impact of heritable L1 retrotransposition and reveal retrotransposition-mediated genomic diversification as a fundamental property of pluripotent embryonic cells in vivo
Conservative management of perforated duodenal diverticulum: a case report and review of the literature
Duodenal diverticula are a relatively common condition. They are asymptomatic, unless they become complicated, with perforation being the rarest but most severe complication. Surgical treatment is the most frequently performed approach. We report the case of a patient with a perforated duodenal diverticulum, which was diagnosed early and treated conservatively with antibiotics and percutaneous drainage of secondary retroperitoneal abscesses. We suggest this method could be an acceptable option for the management of similar cases, provided that the patient is in good general condition and without septic signs
LINE-1 Evasion of Epigenetic Repression in Humans
Epigenetic silencing defends against LINE-1 (L1) retrotransposition in mammalian cells. However, the mechanisms that repress young L1 families and how L1 escapes to cause somatic genome mosaicism in the brain remain unclear. Here we report that a conserved Yin Yang 1 (YY1) transcription factor binding site mediates L1 promoter DNA methylation in pluripotent and differentiated cells. By analyzing 24 hippocampal neurons with three distinct single-cell genomic approaches, we characterized and validated a somatic L1 insertion bearing a 3' transduction. The source (donor) L1 for this insertion was slightly 5' truncated, lacked the YY1 binding site, and was highly mobile when tested in\ua0vitro. Locus-specific bisulfite sequencing revealed that the donor L1 and other young L1s with mutated YY1 binding sites were hypomethylated in embryonic stem cells, during neurodifferentiation, and in liver and brain tissue. These results explain how L1 can evade repression and retrotranspose in the human body
Bronchoscopist's perception of the quality of the single-use bronchoscope (Ambu aScope4™) in selected bronchoscopies: a multicenter study in 21 Spanish pulmonology services
Background: The disposable bronchoscope is an excellent alternative to face the problem of SARS-CoV-2 and other
cross infections, but the bronchoscopist’s perception of its quality has not been evaluated.
Methods: To evaluate the quality of the Ambu-aScope4 disposable bronchoscope, we carried out a cross-sectional
study in 21 Spanish pulmonology services. We use a standardized questionnaire completed by the bronchoscopists at
the end of each bronchoscopy. The variables were described with absolute and relative frequencies, measures of cen‑
tral tendency and dispersion depending on their nature. The existence of learning curves was evaluated by CUSUM
analysis.
Results: The most frequent indications in 300 included bronchoscopies was bronchial aspiration in 69.3% and the
median duration of these was 9.1 min. The route of entry was nasal in 47.2% and oral in 34.1%. The average score for
ease of use, image, and aspiration quality was 80/100. All the planned techniques were performed in 94.9% and the
bronchoscopist was satisfed in 96.6% of the bronchoscopies. They highlighted the portability and immediacy of the
aScope4TM to start the procedure in 99.3%, the possibility of taking and storing images in 99.3%. The CUSUM analysis showed average scores>70/100 from the frst procedure and from the 9th procedure more than 80% of the scores
exceeded the 80/100 score
CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative
Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research
Tratamientos Psicológicos Empíricamente Apoyados Para Adultos: Una Revisión Selectiva [Evidence-Based Psychological Treatments for Adults: A Selective Review]
Antecedentes: los tratamientos psicológicos han mostrado su efi cacia,
efectividad y efi ciencia para el abordaje de los trastornos mentales; no
obstante, considerando el conocimiento científi co generado en los últimos
años, no se dispone de trabajos de actualización en español sobre cuáles
son los tratamientos psicológicos con respaldo empírico. El objetivo fue
realizar una revisión selectiva de los principales tratamientos psicológicos
empíricamente apoyados para el abordaje de trastornos mentales en personas
adultas. Método: se recogen niveles de evidencia y grados de recomendación
en función de los criterios propuestos por el Sistema Nacional de Salud
de España (en las Guías de Práctica Clínica) para diferentes trastornos
psicológicos. Resultados: los resultados sugieren que los tratamientos
psicológicos disponen de apoyo empírico para el abordaje de un amplio
elenco de trastornos psicológicos. El grado de apoyo empírico oscila de bajo
a alto en función del trastorno psicológico analizado. La revisión sugiere
que ciertos campos de intervención necesitan una mayor investigación.
Conclusiones: a partir de esta revisión selectiva, los profesionales de la
psicología podrán disponer de información rigurosa y actualizada que les
permita tomar decisiones informadas a la hora de implementar aquellos
procedimientos psicoterapéuticos empíricamente fundamentados en
función de las características de las personas que demandan ayuda.
// Evidence-Based Psychological Treatments for Adults: A Selective Review. Background: Psychological treatments have shown their effi cacy,
effectiveness, and effi ciency in dealing with mental disorders. However,
considering the scientifi c knowledge generated in recent years, in the
Spanish context, there are no updating studies about empirically supported psychological treatments. The main goal was to carry out a selective
review of the main empirically supported psychological treatments for
mental disorders in adults. Method: Levels of evidence and degrees of recommendation were collected based on the criteria proposed by the Spanish National Health System (Clinical Practice Guidelines) for different
psychological disorders. Results: The results indicate that psychological
treatments have empirical support for the approach to a wide range of
psychological disorders. These levels of empirical evidence gathered range from low to high depending on the psychological disorder analysed.
The review indicates the existence of certain fi elds of intervention that
need further investigation. Conclusions: Based on this selective review,
psychology professionals will be able to have rigorous, up-to-date information that allows them to make informed decisions when implementing
empirically based psychotherapeutic procedures based on the characteristics of the people who require help
Effects of hospital facilities on patient outcomes after cancer surgery: an international, prospective, observational study
Background Early death after cancer surgery is higher in low-income and middle-income countries (LMICs) compared with in high-income countries, yet the impact of facility characteristics on early postoperative outcomes is unknown. The aim of this study was to examine the association between hospital infrastructure, resource availability, and processes on early outcomes after cancer surgery worldwide.Methods A multimethods analysis was performed as part of the GlobalSurg 3 study-a multicentre, international, prospective cohort study of patients who had surgery for breast, colorectal, or gastric cancer. The primary outcomes were 30-day mortality and 30-day major complication rates. Potentially beneficial hospital facilities were identified by variable selection to select those associated with 30-day mortality. Adjusted outcomes were determined using generalised estimating equations to account for patient characteristics and country-income group, with population stratification by hospital.Findings Between April 1, 2018, and April 23, 2019, facility-level data were collected for 9685 patients across 238 hospitals in 66 countries (91 hospitals in 20 high-income countries; 57 hospitals in 19 upper-middle-income countries; and 90 hospitals in 27 low-income to lower-middle-income countries). The availability of five hospital facilities was inversely associated with mortality: ultrasound, CT scanner, critical care unit, opioid analgesia, and oncologist. After adjustment for case-mix and country income group, hospitals with three or fewer of these facilities (62 hospitals, 1294 patients) had higher mortality compared with those with four or five (adjusted odds ratio [OR] 3.85 [95% CI 2.58-5.75]; p<0.0001), with excess mortality predominantly explained by a limited capacity to rescue following the development of major complications (63.0% vs 82.7%; OR 0.35 [0.23-0.53]; p<0.0001). Across LMICs, improvements in hospital facilities would prevent one to three deaths for every 100 patients undergoing surgery for cancer.Interpretation Hospitals with higher levels of infrastructure and resources have better outcomes after cancer surgery, independent of country income. Without urgent strengthening of hospital infrastructure and resources, the reductions in cancer-associated mortality associated with improved access will not be realised
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