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Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, we systematically knocked down the expression of 285 lncRNAs in human dermal fibroblasts and quantified cellular growth, morphological changes, and transcriptomic responses using Capped Analysis of Gene Expression (CAGE). Antisense oligonucleotides targeting the same lncRNAs exhibited global concordance, and the molecular phenotype, measured by CAGE, recapitulated the observed cellular phenotypes while providing additional insights on the affected genes and pathways. Here, we disseminate the largest-to-date lncRNA knockdown data set with molecular phenotyping (over 1000 CAGE deep-sequencing libraries) for further exploration and highlight functional roles for ZNF213-AS1 and lnc-KHDC3L-2.
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ARN Largo no Codificante/fisiología , Procesos de Crecimiento Celular/genética , Movimiento Celular/genética , Fibroblastos/citología , Fibroblastos/metabolismo , Humanos , Canales de Potasio KCNQ/metabolismo , Anotación de Secuencia Molecular , Oligonucleótidos Antisentido , ARN Largo no Codificante/antagonistas & inhibidores , ARN Largo no Codificante/metabolismo , ARN Interferente PequeñoRESUMEN
Fish vary in their ability to biosynthesise long-chain polyunsaturated fatty acids (LC-PUFA) depending upon the complement and function of key enzymes commonly known as fatty acyl desaturases and elongases. It has been reported in Solea senegalensis the existence of a Δ4 desaturase, enabling the biosynthesis of docosahexaenoic acid (DHA) from eicosapentaenoic acid (EPA), which can be modulated by the diet. The present study aims to evaluate the combined effects of the partial replacement of fish oil (FO) with vegetable oils and reduced environmental salinity in the fatty acid composition of relevant body compartments (muscle, hepatocytes and enterocytes), the enzymatic activity over α-linolenic acid (ALA) to form n-3 LC-PUFA through the incubation of isolated hepatocytes and enterocytes with [1-14C] 18:3 n-3, and the regulation of the S. senegalensis fads2 and elovl5 in the liver and intestine. The presence of radiolabelled products, including 18:4n-3, 20:4n-3 and EPA, provided compelling evidence that a complete pathway enabling the biosynthesis of EPA from ALA, establishing S. senegalensis, has at least one Fads2 with ∆6 activity. Dietary composition prevailed over salinity in regulating the expression of fads2, while salinity did so over dietary composition for elovl5. FO replacement enhanced the proportion of DHA in S. senegalensis muscle and the combination with 20 ppt salinity increased the amount of n-3 LC-PUFA in hepatocytes.
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Grasas de la Dieta/metabolismo , Ecosistema , Ácidos Grasos Omega-3/biosíntesis , Aceites de Pescado/metabolismo , Peces Planos/metabolismo , Aceites de Plantas/metabolismo , Alimentación Animal , Animales , Acuicultura , Grasas de la Dieta/administración & dosificación , Enterocitos/metabolismo , Ácido Graso Desaturasas/genética , Ácido Graso Desaturasas/metabolismo , Elongasas de Ácidos Grasos/genética , Elongasas de Ácidos Grasos/metabolismo , Aceites de Pescado/administración & dosificación , Hepatocitos/metabolismo , Músculos/metabolismo , Aceites de Plantas/administración & dosificación , Salinidad , Factores de Tiempo , Agua/químicaAsunto(s)
Antineoplásicos/uso terapéutico , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Ováricas/tratamiento farmacológico , Ftalazinas/uso terapéutico , Piperazinas/uso terapéutico , Antineoplásicos/farmacología , Proteína BRCA1 , Neoplasias Encefálicas/secundario , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/complicaciones , Ftalazinas/farmacología , Piperazinas/farmacologíaRESUMEN
This study conducts a comprehensive analysis on the usage of the blockchain technology in clinical trials, based on a curated corpus of 107 scientific articles from the year 2016 through the first quarter of 2024. Utilizing a methodological framework that integrates bibliometric analysis, network analysis, thematic mapping, and latent Dirichlet allocation, the study explores the terrain and prospective developments within this usage based on data analytics. Through a meticulous examination of the analyzed articles, the present study identifies seven key thematic areas, highlighting the diverse applications and interdisciplinary nature of blockchain in clinical trials. Our findings reveal blockchain capability to enhance data management, participant consent processes, as well as overall trial transparency, efficiency, and security. Additionally, the investigation discloses the emerging synergy between blockchain and advanced technologies, such as artificial intelligence and federated learning, proposing innovative directions for improving clinical research methodologies. Our study underscores the collaborative efforts in dealing with the complexities of integrating blockchain into the areas of clinical trials and healthcare, delineating the transformative potential of blockchain technology in revolutionizing these areas by addressing challenges and promoting practices of efficient, secure, and transparent research. The delineated themes and networks of collaboration provide a blueprint for future inquiry, showing the importance of empirical research to narrow the gap between theoretical promise and practical implementation.
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Lymphoplasmacytic lymphoma (LPL) is an uncommon condition, accounting for only 2% of all non-Hodgkin's lymphoma cases. Individuals with LPL face the risk of vascular blockage when associated with type I cryoglobulinemia, leading to related symptoms. Until now, no instances of LPL with dry gangrene have been documented. However, we present a rare case involving LPL accompanied by dry gangrene in both the right upper extremity (RUE) and left lower extremity (LLE). The patient was effectively managed using a combination of chemotherapy, steroids, plasmapheresis, and salvage surgery.
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This data article describes the dataset of the project "edDIT: Technological corporations, digital educational platforms and guarantee of children's rights with a gender approach". This study has analysed the impact of the use of corporate digital platforms in public schools in Catalonia. A series of data were collected through an online survey, with a total sample of 2347 parents/caregivers. The description of the data contained in this article is divided into two main parts. The first one is a descriptive analysis of all the items included in the survey and has been carried out using tables and figures. The second one refers to the construction of scales. Three scales were constructed and included in the data set: 'Opinions about Educational Digital Platforms', 'Concerns about the use of the data generated on the utilisation of the digital platform' and 'Parental Engagement'. The scales were created using Confirmatory Factor Analysis (CFA) and Multigroup Confirmatory Analysis (MG-CFA). This dataset will be relevant for researchers in different fields, in particular for those interested in digital inclusion public policies and educational policies.
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The long-chain (≥C20) polyunsaturated fatty acid biosynthesis capacity of fish varies among species, with trophic level hypothesised as a major factor. The biosynthesis capacity is largely dependent upon the presence of functionally diversified fatty acyl desaturase 2 (Fads2) enzymes, since many teleosts have lost the gene encoding a Δ5 desaturase (Fads1). The present study aimed to characterise Fads2 from four teleosts occupying different trophic levels, namely Sarpa salpa, Chelon labrosus, Pegusa lascaris and Atherina presbyter, which were selected based on available data on functions of Fads2 from closely related species. Therefore, we had insight into the variability of Fads2 within the same phylogenetic group. Our results showed that Fads2 from S. salpa and C. labrosus were both Δ6 desaturases with further Δ8 activity while P. lascaris and A. presbyter Fads2 showed Δ4 activity. Fads2 activities of herbivorous S. salpa are consistent with those reported for carnivorous Sparidae species. The results suggested that trophic level might not directly drive diversification of teleost Fads2 as initially hypothesised, and other factors such as the species' phylogeny appeared to be more influential. In agreement, Fads2 activities from P. lascaris and A. presbyter were similar to their corresponding phylogenetic counterparts Solea senegalensis and Chirostoma estor.
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Ácido Graso Desaturasas/metabolismo , Ácidos Grasos Insaturados/biosíntesis , Proteínas de Peces/metabolismo , Peces/fisiología , Secuencia de Aminoácidos/genética , Animales , Carnivoría/fisiología , Pruebas de Enzimas , Ácido Graso Desaturasas/química , Ácido Graso Desaturasas/genética , Ácidos Grasos Insaturados/química , Proteínas de Peces/química , Proteínas de Peces/genética , Herbivoria/fisiología , Filogenia , Alineación de Secuencia , Especificidad de la Especie , Especificidad por Sustrato/fisiologíaRESUMEN
The interest in understanding the capacity of aquatic invertebrates to biosynthesise omega-3 (ω3) long-chain (≥C20) polyunsaturated fatty acids (LC-PUFA) has increased in recent years. Using the common octopus Octopus vulgaris as a model species, we previously characterised a ∆5 desaturase and two elongases (i.e. Elovl2/5 and Elovl4) involved in the biosynthesis of LC-PUFA in molluscs. The aim of this study was to characterise both molecularly and functionally, two methyl-end (or ωx) desaturases that have been long regarded to be absent in most animals. O. vulgaris possess two ωx desaturase genes encoding enzymes with ∆12 and ω3 regioselectivities enabling the de novo biosynthesis of the C18 PUFA 18:2ω6 (LA, linoleic acid) and 18:3ω3 (ALA, α-linolenic acid), generally regarded as dietary essential for animals. The O. vulgaris ∆12 desaturase ("ωx2") mediates the conversion of 18:1ω9 (oleic acid) into LA, and subsequently, the ω3 desaturase ("ωx1") catalyses the ∆15 desaturation from LA to ALA. Additionally, the O. vulgaris ω3 desaturase has ∆17 capacity towards a variety of C20 ω6 PUFA that are converted to their ω3 PUFA products. Particularly relevant was the affinity of the ω3 desaturase towards 20:4ω6 (ARA, arachidonic acid) to produce 20:5ω3 (EPA, eicosapentaenoic acid), as supported by yeast heterologous expression, and enzymatic activity exhibited in vivo when paralarvae were incubated in the presence of [1-14C]20:4ω6. These results confirmed that several routes enabling EPA biosynthesis are operative in O. vulgaris whereas ARA and docosahexaenoic acid (DHA, 22:6ω3) should be considered essential fatty acids since endogenous production appears to be limited.
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Ácido Graso Desaturasas/metabolismo , Ácidos Grasos Insaturados/biosíntesis , Octopodiformes/metabolismo , Animales , Ácido Araquidónico/biosíntesis , Ácido Araquidónico/metabolismo , Ácidos Docosahexaenoicos/biosíntesis , Ácidos Docosahexaenoicos/metabolismo , Ácido Eicosapentaenoico/biosíntesis , Ácido Graso Desaturasas/genética , Ácido Linoleico/biosíntesis , Octopodiformes/enzimología , Ácido alfa-Linolénico/biosíntesisRESUMEN
The culture of the common octopus (Octopus vulgaris) is promising since the species has a relatively short lifecycle, rapid growth, and high food conversion ratios. However, recent attempts at successful paralarvae culture have failed due to slow growth and high mortality rates. Establishing an optimal nutritional regime for the paralarvae seems to be the impeding step in successful culture methods. Gaining a thorough knowledge of food regulation and assimilation is essential for paralarvae survival and longevity under culture conditions. The aim of this study, then, was to elucidate the characteristic metabolic organization of octopus paralarvae throughout an ontogenic period of 12 days post-hatching, as well as assess the effect of diet enrichment with live prey containing abundant marine phospholipids. Our results showed that throughout the ontogenic period studied, an increase in anaerobic metabolism took place largely due to an increased dependence of paralarvae on exogenous food. Our studies showed that this activity was supported by octopine dehydrogenase activity, with a less significant contribution of lactate dehydrogenase activity. Regarding aerobic metabolism, the use of amino acids was maintained for the duration of the experiment. Our studies also showed a significant increase in the rate of oxidation of fatty acids from 6 days after-hatching. A low, although sustained, capacity for de novo synthesis of glucose from amino acids and glycerol was also observed. Regardless of the composition of the food, glycerol kinase activity significantly increased a few days prior to a massive mortality event. This could be related to a metabolic imbalance in the redox state responsible for the high mortality. Thus, glycerol kinase might be used as an effective nutritional and welfare biomarker. The studies in this report also revealed the important finding that feeding larvae with phospholipid-enriched Artemia improved animal viability and welfare, significantly increasing the rate of survival and growth of paralarvae.
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Left ventricular pseudoaneurysms have become a rare complication of acute myocardial infarction, occurring in approximately 2% of cases and even less frequently when primary percutaneous intervention can be performed. Regardless of treatment strategy, left ventricle pseudoaneurysms are associated with a high mortality rate. We report on the extremely rare occurrence of a patient surviving two episodes of free wall rupture associated with extensive chest wall destruction and secondary traumatic rib fractures. The key to success in this case is related to both the cardiac and chest wall repair.
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Aneurisma Falso/cirugía , Aneurisma Cardíaco/complicaciones , Aneurisma Cardíaco/cirugía , Pared Torácica/cirugía , Aneurisma Falso/complicaciones , Aneurisma Falso/diagnóstico por imagen , Ecocardiografía , Aneurisma Cardíaco/diagnóstico por imagen , Rotura Cardíaca Posinfarto/complicaciones , Ventrículos Cardíacos , Humanos , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos XRESUMEN
Immunoglobulin G4 (IgG4-RD) -related disease is a regional or systemic fibroinflammatory disease of unknown etiology. It has a characteristic histopathological appearance of dense lymphoplasmacytic infiltrates with abundant IgG4 positive plasma cells, storiform fibrosis and obliterative phlebitis with the appearance of inflammatory swelling or swollen lesions. This entity frequently affects the pancreas, salivary glands, and lymph nodes, but it can compromise almost any structure in the human anatomy. This new disease entity includes a wide variety of diseases such as Mikulicz disease, autoimmune pancreatitis, Riedel's thyroiditis, interstitial nephritis, and retroperitoneal fibrosis. Glucocorticoid therapy can resolve clinical and pathologic abnormalities and impaired organ function. IgG4-RD was internationally recognized in 2011, and new evidence has accumulated on its pathogenesis, clinical characteristics, and treatment. However, much is still unknown about the behavior of IgG4 in vivo, the participation of this molecule in disease, and whether its role in IgG4-related disease is primary or secondary. The text below is based on a brief review of the most recent literature on this entity in relation to a clinical case.