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1.
Behav Sci (Basel) ; 14(4)2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38667106

RESUMO

Research on the influence of chronotype and time of day (TOD) on cognitive performance, especially in children, is limited. We explored potential interactive effects, hypothesizing that performance differs when comparing preferred vs. non-preferred TOD. In total, 76 morning-type (MT = 37) or evening-type (ET = 39) children from the third and fourth grades (48.7% girls; M age = 8.05; SD age = 0.51), identified through the Children Chronotype Questionnaire, completed two 30-min neuropsychological assessment sessions via videoconference on the first (9:00) or last hour (16:00) of the school day. The protocol included neuropsychological tests targeting memory, language, and attention/executive domains. The results revealed an interactive effect of medium size between chronotype and TOD on a Rapid Alternating Stimulus (Naming) Task. MT and ET performed faster in asynchrony conditions (morning for ET; afternoon for MT). Additionally, ET outperformed MT in a Backward Digit Span Task, irrespective of TOD. TOD also influenced performance on an Alternating Verbal Fluency Task, with both MT and ET children performing better in the morning. These results underscore the importance of chronotype and TOD in children's cognitive performance, particularly in working memory and verbal fluency. Children assessed during non-preferred TOD exhibited better performance on some cognitive tasks, challenging the assumption that optimal times always yield superior results.

2.
Front Artif Intell ; 7: 1281110, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38650963

RESUMO

Introduction: Video service providers are moving from focusing on Quality of Service (QoS) to Quality of Experience (QoE) in their video networks since the users' demand for high-quality video content is continually growing. By focusing on QoE, video service providers can provide their subscribers with a more personalized and engaging experience, which can help increase viewer satisfaction and retention. This focus shift requires not only a more sophisticated approach to network management and new tools and technologies to measure and optimize QoE in their networks but also a novel approach to video delivery operations. Methods: This paper describes the components, interactions, and relationships of an algorithm factory for video delivery operation that assures high QoE for video streaming services. The paper also showcases the results of gradually implementing an algorithm factory in the video industry. Using a dataset from 2016 to 2022, we present the case of a European PayTV service provider that achieved improved performance measured by both objective and subjective metrics. Results: The use of an algorithm factory significantly improved the PayTV service provider's performance. The study found a fivefold increase in the speed of critical incident resolution and a 59% reduction in the number of critical incidents, all while expanding the customer base and maintaining the same level of labor resources. The case also demonstrates a strong positive relation between the productivity measures of the PayTV operator and their survey-based quality ratings. These results underscore the importance of flawless QoS and operational excellence in delivering QoE to meet the evolving demands of viewers. Discussion: The paper adds to the existing literature on relationships between operational efficiency, innovation, and subjective quality. The paper further offers empirical evidence from the PayTV industry. The insights provided are expected to benefit both traditional and over-the-top (OTT) video service providers in their quest to stay ahead in the rapidly evolving video industry. It may also translate to other service providers in similar industries committed to supporting high-quality service delivery.

3.
J Sleep Res ; : e14206, 2024 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-38581186

RESUMO

Insomnia disorder is characterized by disruption in sleep continuity and an overall dissatisfaction with sleep. A relevant feature of insomnia is sleep effort, which refers to both cognitive and behavioural conscious attempts to initiate sleep. The Glasgow Sleep Effort Scale is a self-report tool developed to assess this construct. The objective of the current scoping review was to map how sleep effort has been discussed in the literature and operationalized through its respective measure. Medline/PubMed, Scopus, Web of Science and PsycInfo databases were used to search for potential studies. The search query used in databases was the specific name of the self-reported tool itself (Glasgow Sleep Effort Scale) and "sleep effort" term. This scoping review followed JBI guidelines. To be included, records pertaining to any type of study that mentioned the Glasgow Sleep Effort Scale were considered. No language constraint was used. At the end, 166 initial records were retrieved. From those, 46 records met eligibility criteria and were analysed. Among the main findings, it was observed that the Glasgow Sleep Effort Scale has been increasingly used in recent years, with a notable observed upward trend, especially in the last 2 years. In addition to the original measure, only three published adapted versions of the instrument were identified. This suggests that there is limited research on adapting the scale for different populations or contexts. Sleep effort has been increasingly studied in the last few years. Nonetheless, more research on the Glasgow Sleep Effort Scale tool is recommended, including cross-cultural adaptations.

4.
Gigascience ; 132024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38442146

RESUMO

Urbanization brings forth social challenges in emerging countries such as Brazil, encompassing food scarcity, health deterioration, air pollution, and biodiversity loss. Despite this, urban areas like the city of São Paulo still boast ample green spaces, offering opportunities for nature appreciation and conservation, enhancing city resilience and livability. Citizen science is a collaborative endeavor between professional scientists and nonprofessional scientists in scientific research that may help to understand the dynamics of urban ecosystems. We believe citizen science has the potential to promote human and nature connection in urban areas and provide useful data on urban biodiversity.


Assuntos
Ciência do Cidadão , Humanos , Brasil , Ecossistema , Biodiversidade
5.
GigaByte ; 2024: gigabyte107, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38434929

RESUMO

This paper presents two key data sets derived from the Pomar Urbano project. The first data set is a comprehensive catalog of edible fruit-bearing plant species, native or introduced to Brazil. The second data set, sourced from the iNaturalist platform, tracks the distribution and monitoring of these plants within urban landscapes across Brazil. The study includes data from the capitals of all 27 federative units of Brazil, focusing on the ten cities that contributed the most observations as of August 2023. The research emphasizes the significance of citizen science in urban biodiversity monitoring and its potential to contribute to various fields, including food and nutrition, creative industry, study of plant phenology, and machine learning applications. We expect the data sets presented in this paper to serve as resources for further studies in urban foraging, food security, cultural ecosystem services, and environmental sustainability.

6.
Acta Med Port ; 37(2): 90-99, 2024 Feb 01.
Artigo em Português | MEDLINE | ID: mdl-37579749

RESUMO

INTRODUCTION: The increase in life expectancy brought a higher prevalence of chronic diseases, with an emphasis on those who reached advanced stages and required palliative care. We aimed to characterize patients diagnosed with advanced neoplasms and/or dementia accompanied in primary health care and to test the sensitivity of two tools for identifying patients with palliative needs. METHODS: We recruited three voluntary family physicians who provided data relative to 623 patients with active codification for neoplasm and/or dementia on the MIM@UF platform. We defined 'patient with palliative needs' as any patient with this codification in advanced stadium and made their clinical and sociodemographic characterization. Assuming the existence of advanced-stage disease as the gold standard, we calculated and compared the sensitivities of each of the tools under study: the surprise question, the question 'do you think this patient has palliative needs?' and an instrument that corresponded to identification by at least one of the questions. RESULTS: Among the analyzed data, there were 559 (89.7%) active codifications of neoplasm and 64 (10.3%) of dementia; the prevalence of advanced neoplasm and dementia was 1.0% in the studied sample. The subgroup of patients with advanced dementia showed female sex predominance, an older age, and less access to health care. In both subgroups there was a scarcity of data related to education and income, and we observed polypharmacotherapy and multimorbidity. The sensitivity of the surprise question was 33.3% for neoplasia and 69.3% for dementia; of the new tool 50.0% for neoplasia and 92.3% for dementia; and, when used together, 55.6% for neoplasia and 92.3% for dementia. CONCLUSION: Our results help characterize two subpopulations of patients in need of palliative care and advance with a possible tool for their identification, to be confirmed in a representative sample.


Introdução: O aumento da esperança de vida trouxe maior prevalência de doenças crónicas, merecendo destaque as que atingem estádios avançados e que requerem cuidados paliativos. Pretendeu-se caracterizar os doentes com diagnóstico de neoplasia e/ou demência em estádio avançado, acompanhados em cuidados de saúde primários, e testar a sensibilidade de duas ferramentas para identificação de doentes com necessidades paliativas. Métodos: Recrutámos três médicos de família voluntários que forneceram dados relativos a 623 doentes com codificação ativa de neoplasia e/ou demência na plataforma MIM@UF. Definimos como 'doente com necessidades paliativas' todo o doente com doença em estádio avançado, e fizemos a sua caracterização clínica e sociodemográfica. Assumindo como gold standard a existência de doença em estádio avançado, calculámos e comparámos as sensibilidades de cada uma das ferramentas em estudo: a questão surpresa, a questão 'acha que este doente tem necessidades paliativas?' e um instrumento que correspondesse a identificação por pelo menos uma das questões. Resultados: De entre os dados analisados, existiram 559 (89,7%) codificações ativas de neoplasia e 64 (10,3%) de demência; a prevalência de neoplasia e demência avançadas foi de 1,0% na amostra estudada. O subgrupo de doentes com demência avançada mostrou predomínio do sexo feminino, idade superior e menor acesso a cuidados de saúde. Em ambos os subgrupos houve escassez de dados relativos à escolaridade e rendimento e observámos polifarmacoterapia e multimorbilidade. A sensibilidade da questão surpresa foi de 33,3% para neoplasia e 69,3% para demência; da nova ferramenta de 50,0% para neoplasia e 92,3% para demência; e, quando usadas em conjunto, de 55,6% para neoplasia e 92,3% para demência. Conclusão: Estes resultados ajudam a caracterizar duas subpopulações de doentes com necessidade de cuidados paliativos e avançam com uma possível ferramenta para sua identificação, a confirmar a sua utilidade numa amostra representativa.


Assuntos
Demência , Neoplasias , Humanos , Feminino , Cuidados Paliativos , Neoplasias/terapia , Instalações de Saúde , Demência/terapia , Atenção Primária à Saúde
7.
Phys Rev Lett ; 131(9): 097101, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37721846

RESUMO

By controlling the variance of the radiation pressure exerted on an optically trapped microsphere in real time, we engineer temperature protocols that shortcut thermal relaxation when transferring the microsphere from one thermal equilibrium state to another. We identify the entropic footprint of such accelerated transfers and derive optimal temperature protocols that either minimize the production of entropy for a given transfer duration or accelerate the transfer for a given entropic cost as much as possible. Optimizing the trade-off yields time-entropy bounds that put speed limits on thermalization schemes. We further show how optimization expands the possibilities for accelerating Brownian thermalization down to its fundamental limits. Our approach paves the way for the design of optimized, finite-time thermodynamics for Brownian engines. It also offers a platform for investigating fundamental connections between information geometry and finite-time processes.

8.
Phys Rev E ; 107(5-2): 056602, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37329057

RESUMO

We stress that the limitations on one of the results of our paper [R. Goerlich et al., Phys. Rev. E 106, 054617 (2022)2470-004510.1103/PhysRevE.106.054617], which are mentioned in the preceding Comment [A. Bérut, preceding Comment, Phys. Rev. E 107, 056601 (2023)10.1103/PhysRevE.107.056601], were actually already acknowledged and discussed in the original publication. Although the observed relationship between the released heat and the spectral entropy of the correlated noise is not universal (but limited to one-parameter Lorentzian spectra), the existence of such a clear relationship is a solid experimental finding. It not only gives a convincing explanation for the surprising thermodynamics observed in the transitions between nonequilibrium steady states, but also provides new tools for the analysis of nontrivial baths. In addition, by using different measures of the correlated noise information content, it may be possible to generalize these results to non-Lorentzian spectra.


Assuntos
Temperatura Alta , Termodinâmica , Entropia
10.
Zygote ; 31(3): 253-265, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36938666

RESUMO

Here we report a quantitative analysis of human metaphase II (MII) oocytes from a 22-year-old oocyte donor, retrieved after ovarian-controlled hyperstimulation. Five surplus donor oocytes were processed for transmission electron microscopy (TEM), and a stereological analysis was used to quantify the distribution of organelles, using the point-counting technique with an adequate stereological grid. Comparisons between means of the relative volumes (Vv) occupied by organelles in the three oocyte regions, cortex (C), subcortex (SC) and inner cytoplasm (IC), followed the Kruskal-Wallis test and Mann-Whitney U-test with Bonferroni correction. Life cell imaging and TEM analysis confirmed donor oocyte nuclear maturity. Results showed that the most abundant organelles were smooth endoplasmic reticulum (SER) elements (26.8%) and mitochondria (5.49%). Significant differences between oocyte regions were found for lysosomes (P = 0.003), cortical vesicles (P = 0.002) and large SER vesicles (P = 0.009). These results were quantitatively compared with previous results using prophase I (GV) and metaphase I (MI) immature oocytes. In donor MII oocytes there was a normal presence of cortical vesicles, SER tubules, SER small, medium and large vesicles, lysosomes and mitochondria. However, donor MII oocytes displayed signs of cytoplasmic immaturity, namely the presence of dictyosomes, present in GV oocytes and rare in MI oocytes, of SER very large vesicles, characteristic of GV oocytes, and the rarity of SER tubular aggregates. Results therefore indicate that the criterion of nuclear maturity used for donor oocyte selection does not always correspond to cytoplasmic maturity, which can partially explain implantation failures with the use of donor oocytes.


Assuntos
Mitocôndrias , Oócitos , Humanos , Adulto Jovem , Adulto , Oócitos/metabolismo , Citoplasma , Oogênese , Núcleo Celular
11.
Gynecol Oncol Rep ; 46: 101146, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36845023

RESUMO

•Standardization technique producing a systematized surgery.•Assessment and dissection of the pericardium to achieve complete cytoreduction.•Multiples structure resection should not discourage a complete resection.

12.
Chemosphere ; 319: 138030, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36736479

RESUMO

The physicochemical and biological parameters of aquatic ecosystems are directly affected by mining activities, increasing the ecotoxicological risk related to exposure to contaminants and pollutants. In this study, a native and adapted floating aquatic macrophyte was used in a gold mining area as a model organism to assess the environmental risk and its potential application in bioremediation of heavy metals. The physicochemical parameters of water and sediments were evaluated, as well as the phytoremediation parameters (bioconcentration and translocation factors) of Hydrocotyle ranunculoides L. The results showed a significant bioconcentration of Cr, Pb, Cu, and Zn in the roots of the macrophyte (high BCF: As > Cu > Zn > Pb > Cr), confirming its suitability for use in rhizofiltration. Regarding arsenic bioconcentration, H. ranunculoides demonstrated a high BCF and TF > 1, indicating its phytoextraction potential, an essential requirement for plants to be used in bioremediation programs.


Assuntos
Arsênio , Metais Pesados , Poluentes do Solo , Arsênio/análise , Biodegradação Ambiental , Ouro , Ecossistema , Chumbo , Poluentes do Solo/análise , Metais Pesados/análise , Mineração , Medição de Risco
13.
SN Comput Sci ; 4(1): 14, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36274815

RESUMO

Scientific advances, especially in the healthcare domain, can be accelerated by making data available for analysis. However, in traditional data analysis systems, data need to be moved to a central processing unit that performs analyses, which may be undesirable, e.g. due to privacy regulations in case these data contain personal information. This paper discusses the Personal Health Train (PHT) approach in which data processing is brought to the (personal health) data rather than the other way around, allowing (private) data accessed to be controlled, and to observe ethical and legal concerns. This paper introduces the PHT architecture and discusses the data staging solution that allows processing to be delegated to components spawned in a private cloud environment in case the (health) organisation hosting the data has limited resources to execute the required processing. This paper shows the feasibility and suitability of the solution with a relatively simple, yet representative, case study of data analysis of Covid-19 infections, which is performed by components that are created on demand and run in the Amazon Web Services platform. This paper also shows that the performance of our solution is acceptable, and that our solution is scalable. This paper demonstrates that the PHT approach enables data analysis with controlled access, preserving privacy and complying with regulations such as GDPR, while the solution is deployed in a private cloud environment.

14.
Innov Clin Neurosci ; 20(10-12): 35-39, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38193103

RESUMO

Objective: The advent of next-generation sequencing (NGS) enabled the detection of low-level brain somatic variants in postsurgical tissue of focal cortical dysplasia (FCD). The genetic background of FCD Type I remains elusive, while the mammalian target of rapamycin (mTOR) pathway seems to have a relevant role in the pathogenesis of FCD Type II. Our goal was to uncover information on the molecular basis of FCD, performing whole genome sequencing (WGS) in postsurgical tissue to detect candidate brain-specific somatic variants, and evaluate their clinical significance. Design: WGS was performed using paired peripheral venous blood and postsurgical pathological brain deoxyribonucleic acid (DNA) samples. Libraries were prepared using the Roche KAPA HyperPrep polymerase chain reaction (PCR) free library preparation kit. Paired-end 150bp reads were generated on the Illumina NovaSeq platform. The FASTQ files were processed using the nf-core sarek pipeline (version 3.0) to call somatic variants, which were then annotated with ANNOVAR. A screening strategy was applied to obtain relevant variants. Results: Two female patients with drug-resistant epilepsy due to FCD who underwent surgical treatment were included. Regarding neuropathological diagnosis, one patient had FCD Type Ia and the other had FCD Type IIa. Five somatic nonsynonymous single nucleotide variants (SNVs) were detected using WGS, three in FCD Ia tissue (WDR24 p.Trp259Gly; MICAL1 p.Lys1036Arg; and KATNB1 p.Leu566Ile) and two in FCD IIa tissue (MATN4 p.Phe91Val and ANKRD6 p.His386Gln). All variants were predicted to be potentially pathogenic by at least two different tools. However, they were classified as variants of uncertain significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) criteria. Conclusion: Brain-specific somatic missense variants were identified by NGS in new candidate genes (WDR24, MICAL1, KATNB1, MATN4, and ANKRD6) using postsurgical FCD tissue, which may contribute to further understanding of the genetic background of FCD. All the reported genes were previously related to epilepsy and/or malformations of central nervous system (CNS) and cortical development. However, the pathogenicity assessment of these variants and, consequently, their impact on clinical practice still poses an important challenge.

15.
Phys Rev E ; 106(5-1): 054617, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36559455

RESUMO

We propose to use a correlated noise bath to drive an optically trapped Brownian particle that mimics active biological matter. Due to the flexibility and precision of our setup, we are able to control the different parameters that drive the stochastic motion of the particle with unprecedented accuracy, thus reaching strongly correlated regimes that are not easily accessible with real active matter. In particular, by using the correlation time (i.e., the "color") of the noise as a control parameter, we can trigger transitions between two nonequilibrium steady states with no expended work, but only a calorific cost. Remarkably, the measured heat production is directly proportional to the spectral entropy of the correlated noise, in a fashion that is reminiscent of Landauer's principle. Our procedure can be viewed as a method for harvesting information from the active fluctuations.

16.
Neuropathology ; 42(6): 467-482, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35844095

RESUMO

Low-grade neuroepithelial tumors (LNETs) represent an important group of central nervous system neoplasms, some of which may be associated to epilepsy. The concept of long-term epilepsy-associated tumors (LEATs) includes a heterogenous group of low-grade, cortically based tumors, associated to drug-resistant epilepsy, often requiring surgical treatment. LEATs entities can sometimes be poorly discriminated by histological features, precluding a confident classification in the absence of additional diagnostic tools. This study aimed to provide an updated review on the genomic findings and DNA methylation profiling advances in LNETs, including histological entities of LEATs. A comprehensive search strategy was conducted on PubMed, Embase, and Web of Science Core Collection. High-quality peer-reviewed original manuscripts and review articles with full-text in English, published between 2003 and 2022, were included. Results were screened based on titles and abstracts to determine suitability for inclusion, and when addressed the topic of the review was screened by full-text reading. Data extraction was performed through a qualitative content analysis approach. Most LNETs appear to be driven mainly by a single genomic abnormality and respective affected signaling pathway, including BRAF p.V600E mutations in ganglioglioma, FGFR1 abnormalities in dysembryoplastic neuroepithelial tumor, MYB alterations in angiocentric glioma, BRAF fusions in pilocytic astrocytoma, PRKCA fusions in papillary glioneuronal tumor, between others. However, these molecular alterations are not exclusive, with some overlap amongst different tumor histologies. Also, clustering analysis of DNA methylation profiles allowed the identification of biologically similar molecular groups that sometimes transcend conventional histopathological classification. The exciting developments on the molecular basis of these tumors reinforce the importance of an integrative histopathological and (epi)genetic classification, which can be translated into precision medicine approaches.


Assuntos
Neoplasias Encefálicas , Epilepsia , Ganglioglioma , Glioma , Neoplasias Neuroepiteliomatosas , Criança , Humanos , Metilação de DNA , Neoplasias Neuroepiteliomatosas/patologia , Ganglioglioma/patologia , Glioma/genética , Neoplasias Encefálicas/patologia , Epilepsia/genética , Epilepsia/patologia
17.
Cytogenet Genome Res ; 162(1-2): 28-33, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35477180

RESUMO

A palette of copy number changes in long-term epilepsy-associated tumors (LEATs) have been reported, but the data are heterogeneous. To better understand the molecular basis underlying the development of LEATs, we performed array-comparative genomic hybridization analysis to investigate chromosomal imbalances across the entire genome in 8 cases of LEATs. A high number of aberrations were found in 4 patients, among which deletions predominated. Both whole-chromosome and regional abnormalities were observed, including monosomy 19, deletion of 1p, deletions of 4p, 12p, and 22q, and gain of 20p. The common altered regions are located mainly on chromosomes 19 and 4p, identifying genes potentially involved in biological processes and cellular mechanisms related to tumorigenesis. Our study highlights new genomic alterations and reinforces others previously reported, offering new molecular insights that may help in diagnosis and therapeutic decision-making.


Assuntos
Epilepsia , Neoplasias , Aberrações Cromossômicas , Hibridização Genômica Comparativa , Epilepsia/genética , Genômica , Humanos , Monossomia , Hibridização de Ácido Nucleico
18.
Environ Sci Pollut Res Int ; 29(26): 40204-40212, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35119632

RESUMO

Stressing agents can cause morphophysiological and behavioural changes in several animals, including birds, which are good study models for environmental biomonitoring. The heterophil/lymphocyte ratio (H/L) is an efficient indicator of chronic stresses in birds. In this study, we aimed to compare the H/L ratio of birds between the areas with different levels of urbanisation, anthropogenic noise and carbon monoxide (CO) emission rates. A total of 1288 birds were captured in six Cerrado forest fragments between 2013 and 2019, from which we took blood samples to produce blood smears. In each of these fragments, the noise level was measured with a sound pressure level metre. The CO rates were obtained from the National Institute for Space Research database (INPE-Brazil). There was a higher H/L ratio in individuals captured in urban areas or close to urbanisation with high anthropogenic noise levels and high CO rates, and a lower H/L ratio in individuals from preserved areas, far from urban environments with low noise levels and low CO rates. Six species (Antilophia galeata, Leoptopogon amaurocephalus, Cnemotriccus fuscatus, Lathrotriccus euleri, Turdus leucomelas and Eucometis penicillata) showed a significant difference between the areas and followed the pattern shown by the individuals. The present study showed that birds living in the urban and peri-urban sites have higher values of H/L ratio than birds from rural sites. These results suggest that the H/L ratio can be used as an environmental biomonitoring tool and an efficient parameter to assess chronic stress in birds in degraded environments.


Assuntos
Passeriformes , Aves Canoras , Animais , Brasil , Poluição Ambiental , Linfócitos , Urbanização
19.
J Clin Pathol ; 75(6): 422-425, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33653728

RESUMO

Multiple myeloma (MM) genomic complexity reflects in the variable patients' clinical presentation. Genome-wide studies seem to be a reasonable alternative to identify critical genomic lesions. In the current study, we have performed the genomic characterisation of a Portuguese cohort of patients with MM by array comparative genomic hybridisation. Overall, the most frequently detected alterations were 13q deletions, gains of 1q, 19p, 15q, 5p and 7p and trisomy 9. Even though some identified genomic alterations were previously associated with a prognostic value, other abnormalities remain with unknown, but putative significance for patients' clinical practice. These genomic alterations should be further assessed as possible biomarkers.


Assuntos
Mieloma Múltiplo , Aberrações Cromossômicas , Deleção Cromossômica , Genômica , Humanos , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/genética , Portugal , Trissomia
20.
RECIIS (Online) ; 15(3): 722-735, jul.-set. 2021. ilus, tab
Artigo em Inglês | LILACS | ID: biblio-1342698

RESUMO

The FAIR principles have become a data management instrument for the academic and scientific community, since they provide a set of guiding principles to bring findability, accessibility, interoperability and reusability to data and metadata stewardship. Since their official publication in 2016 by Scientific Data ­ Nature, these principles have received worldwide recognition and have been quickly endorsed and adopted as a cornerstone of data stewardship and research policy. However, when put into practice, they occasionally result in organisational, legal and technological challenges that can lead to doubts and uncertainty as to whether the effort of implementing them is worthwhile. Soon after their publication, the European Commission and other funding agencies started to require that project proposals include a Data Management Plan (DMP) based on the FAIR principles. This paper reports on the adherence of DMPs to the FAIR principles, critically evaluating ten European DMP templates. We observed that the current FAIRness of most of these DMPs is only partly satisfactory, in that they address data best practices, findability, accessibility and sometimes preservation, but pay much less attention to metadata and interoperability.


Os princípios FAIR tornaram-se um instrumento de gestão de dados para a comunidade acadêmica e científica, uma vez que fornecem um conjunto de princípios orientadores que facilitam a localização, acessibilidade, interoperabilidade e reutilização de dados e metadados. Desde sua publicação oficial em 2016 pela Scientific Data - Nature, esses princípios receberam reconhecimento mundial e foram rapidamente endossados e adotados como pilares da gestão de dados e das políticas de pesquisa. No entanto, quando postos em prática, apresentam ocasionalmente desafios organizacionais, jurídicos e tecnológicos que podem levar a dúvidas e incertezas quanto ao esforço em implementá-los. Logo após sua publicação, a Comissão Europeia e outras agências de financiamento começaram a exigir nas suas propostas de projetos um Plano de Gestão de Dados (PGD) com base nos princípios da FAIR. Este artigo relata a aderência dos PGDs aos princípios FAIR, avaliando criticamente dez modelos europeus de PGD. Observamos que o nível de FAIRness da maioria dos PGDs analisados ainda é parcialmente satisfatório, uma vez que abordam as melhores práticas de dados, localização, acessibilidade e, às vezes, preservação, mas dão pouca atenção aos metadados e a interoperabilidade.


Los principios FAIR se han convertido en una herramienta de gestión de datos para la comunidad académica y científica, ya que proporcionan un conjunto de principios rectores que facilitan la localización, accesibilidad, interoperabilidad y reutilización de la gestión de datos y metadatos. Desde su publicación oficial en 2016 por Scientific Data - Nature, estos principios han recibido reconocimiento mundial y fueron rápidamente respaldados y adoptados como pilares de la política de investigación y gestión de datos. Sin embargo, cuando se ponen en práctica, ocasionalmente presentan desafíos organizativos, legales y tecnológicos que pueden generar dudas e incertidumbres sobre el esfuerzo para implementarlos. Poco después de su publicación, la Comisión Europea y otras agencias de financiación comenzaron a exigir en sus propuestas de proyectos un Plan de Gestión de Datos (PGD) basado en los principios de FAIR. Este artículo informa sobre la adherencia de los PGD a los principios FAIR, evaluando críticamente diez modelos europeos de PGD. Observamos que el nivel de FAIRness de la mayoría de los PGD analizados sigue siendo parcialmente insatisfactorio, ya que abordan las mejores prácticas de datos, ubicación, accesibilidad y, a veces, preservación, pero prestan poca atención a los metadatos y la interoperabilidad.


Assuntos
Humanos , Metadados , Comunicação Acadêmica , Interoperabilidade da Informação em Saúde , Gerenciamento de Dados , Comentário , Política de Pesquisa em Saúde , Domínios Científicos , Análise de Dados
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