289 research outputs found
Hemangioma intramuscular: A propósito de un caso
Se presenta el caso de un tumor de partes blandas localizado en la unión de tercio proximal y medio de pierna derecha, en el espesor del músculo peroneo lateral largo. Los estudios preoperatorios consideraron como primera posibilidad un hemangioma que fue confirmado posteriormente en la anatomía patológica y tratado mediante resección completa. Se hace a su vez un recuerdo bibliográfico de este tipo de tumores.A soft-tissue located in the confluence of the proximal and middle third of the right leg, depth in the peroneus lateralis longus muscle is presented. Preoperative showed an intramuscular haemangioma and postoperative histological diagnosis was confirmed and complete excision was the treatment applied. The literature related to the condition is also reviewed
SETDB1 prevents TET2-dependent activation of IAP retroelements in naïve embryonic stem cells
Background Endogenous retroviruses (ERVs), which are responsible for 10% of spontaneous mouse mutations, are kept under control via several epigenetic mechanisms. The H3K9 histone methyltransferase SETDB1 is essential for ERV repression in embryonic stem cells (ESCs), with DNA methylation also playing an important role. It has been suggested that SETDB1 protects ERVs from TET-dependent DNA demethylation, but the relevance of this mechanism for ERV expression remains unclear. Moreover, previous studies have been performed in primed ESCs, which are not epigenetically or transcriptionally representative of preimplantation embryos. Results We use naïve ESCs to investigate the role of SETDB1 in ERV regulation and its relationship with TET-mediated DNA demethylation. Naïve ESCs show an increased dependency on SETDB1 for ERV silencing when compared to primed ESCs, including at the highly mutagenic intracisternal A particles (IAPs). We find that in the absence of SETDB1, TET2 activates IAP elements in a catalytic-dependent manner. Surprisingly, TET2 does not drive changes in DNA methylation levels at IAPs, suggesting that it regulates these retrotransposons indirectly. Instead, SETDB1 depletion leads to a TET2-dependent loss of H4R3me2s, which is indispensable for IAP silencing during epigenetic reprogramming. Conclusions Our results demonstrate a novel and unexpected role for SETDB1 in protecting IAPs from TET2-dependent histone arginine demethylation
O Mapa Geográfico de América Meridional, de Juan de la Cruz Cano y Olmedilla
This essay examines the history of the construction of the Mapa Geográfico de América Meridional (Map of South America) by Juan de la Cruz Cano y Olmedilla, how its various editions were engraved, as well as its circulation and reception during the second half of the 18th century in the light of the ongoing dispute between Portugal and Spain over the boundaries of Brazil
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotropinomas, however, remains unknown.
Objective: To perform a comprehensive screening for DICER1 variants in a large cohort of CD patients, and to analyze their possible contribution to the phenotype.
Design, setting, patients, and interventions: We included 192CD cases: ten young-onset (age <30 years at diagnosis) patients were studied using a next generation sequencing panel, and 182 patients (170 pediatric and 12 adults) were screened via whole-exome sequencing. In seven cases, tumor samples were analyzed by Sanger sequencing.
Results: Rare germline DICER1 variants were found in seven pediatric patients with no other known disease-associated germline defects or somatic DICER1 second hits. By immunohistochemistry, DICER1 showed nuclear localization in 5/6 patients. Variant transmission from one of the parents was confirmed in 5/7 cases. One patient had a multinodular goiter; another had a family history of melanoma; no other patients had a history of neoplasms.
Conclusions: Our findings suggest that DICER1 gene variants may contribute to the pathogenesis of non-syndromic corticotropinomas. Clarifying whether DICER1 loss-of-function is disease-causative or a mere disease-modifier in this setting, requires further studies.This work was supported by the Intramural Research Programs of Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and National Institute for Neurological Diseases and Stroke, National Institutes of Health, a grant from the Basque Department of Education (IT795-13), a grant from the Basque Department of Health (GV2018111082), the Merck Serono Research award from Fundacion Salud 2000 (15-EP-004) and the Jose Igea 2018 grant, sponsored by Pfizer, from Fundacion Sociedad Espanola de Endocrinologia Pediatrica (SEEP)
How nanotechnology-enabled concepts could contribute to the prevention, diagnosis and therapy of bacterial infections
This viewpoint summarizes a selection of nanotechnology-based key concepts relevant to critical care medicine. It focuses on novel approaches for a trigger-dependent release of antimicrobial substances from degradable nano-sized carriers, the ultra-sensitive detection of analytes in body fluid samples by plasmonic and fluorescent nanoparticles, and the rapid removal of pathogens from whole blood using magnetic nanoparticles. The concepts presented here could significantly contribute to the prevention, diagnosis and therapy of bacterial infections in future and it is now our turn to bring them from the bench to the bedside
Genome-wide DNA methylation map of human neutrophils reveals widespread inter-individual epigenetic variation
The extent of variation in DNA methylation patterns in healthy individuals is not yet well documented. Identification of inter-individual epigenetic variation is important for understanding phenotypic variation and disease susceptibility. Using neutrophils from a cohort of healthy individuals, we generated base-resolution DNA methylation maps to document inter-individual epigenetic variation. We identified 12851 autosomal inter-individual variably methylated fragments (iVMFs). Gene promoters were the least variable, whereas gene body and upstream regions showed higher variation in DNA methylation. The iVMFs were relatively enriched in repetitive elements compared to non-iVMFs, and were associated with genome regulation and chromatin function elements. Further, variably methylated genes were disproportionately associated with regulation of transcription, responsive function and signal transduction pathways. Transcriptome analysis indicates that iVMF methylation at differentially expressed exons has a positive correlation and local effect on the inclusion of that exon in the mRNA transcript
Unemployment benefits : discursive convergence, distant realities
Production of INCASI Project H2020-MSCA-RISE-2015 GA 691004Unemployment protection systems have certain characteristics in common in Argentina, Uruguay, Spain and Italy: they are compulsory and contributory-proportional, although in Uruguay, it also has a capitalisation supplement. Despite the similarities, they work differently because the context of informal employment chiefly, and unemployment, low salaries and precariousness differ greatly. Consequently, the unemployment protection coverage rate varies. Theories of the Active Welfare State, the Investor State and the reforms of unemployment protection systems have led to a certain modernising language being adopted in these countries: activation, employability, conditionality, lifelong learning, flexibility, which are, among others, words shared with Europe. However, the meanings of these words differ according to the institutional context of each country. In Latin America the welfare state is low institutionalised even almost non-existent, while in Europe it is a diverse institution. Despite this, the four countries share an upward trend in benefit policies, in accordance with the increase in poverty risk
Beyond the mean gender wage gap : decomposition of differences in wage distributions using quantile regression
Using linked employer-employee data, this study measures and decomposes the differences in the earnings distribution between male and female employees in Germany. I extend the traditional decomposition to disentangle the effect of human capital characteristics and the effect of firm characteristics in explaining the gender wage gap. Furthermore, I implement the decomposition across the whole wage distribution with the method proposed by Machado and Mata (2005). Thereby, I take into account the dependence between the human capital endowment of individuals and workplace characteristics. The selection of women into less successful and productive firms explains a sizeable part of the gap. This selection is more pronounced in the lower part of the wage distribution than in the upper tail. In addition, women also benefit from the success of firms by rent-sharing to a lesser extent than their male colleagues. This is the source of the largest part of the pay gap. Gender differences in human capital endowment as well s differences in returns to human capital are less responsible for the wage differential
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