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1.
Genetics ; 226(2)2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38051996

RESUMO

Fluctuations in the strength and direction of natural selection through time are a ubiquitous feature of life on Earth. One evolutionary outcome of such fluctuations is adaptive tracking, wherein populations rapidly adapt from standing genetic variation. In certain circumstances, adaptive tracking can lead to the long-term maintenance of functional polymorphism despite allele frequency change due to selection. Although adaptive tracking is likely a common process, we still have a limited understanding of aspects of its genetic architecture and its strength relative to other evolutionary forces such as drift. Drosophila melanogaster living in temperate regions evolve to track seasonal fluctuations and are an excellent system to tackle these gaps in knowledge. By sequencing orchard populations collected across multiple years, we characterized the genomic signal of seasonal demography and identified that the cosmopolitan inversion In(2L)t facilitates seasonal adaptive tracking and shows molecular footprints of selection. A meta-analysis of phenotypic studies shows that seasonal loci within In(2L)t are associated with behavior, life history, physiology, and morphological traits. We identify candidate loci and experimentally link them to phenotype. Our work contributes to our general understanding of fluctuating selection and highlights the evolutionary outcome and dynamics of contemporary selection on inversions.


Assuntos
Drosophila melanogaster , Drosophila , Animais , Drosophila/genética , Drosophila melanogaster/genética , Estações do Ano , Polimorfismo Genético , Frequência do Gene , Seleção Genética , Inversão Cromossômica
2.
Health Informatics J ; 27(2): 14604582211021459, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34142613

RESUMO

BACKGROUND: The increase of healthcare digitalization comes along with potential information security risks. Thus, the EU H2020 KONFIDO project aimed to provide a toolkit supporting secure cross-border health data exchange. METHODS: KONFIDO focused on the so-called "User Goals", while also identifying barriers and facilitators regarding eHealth acceptance. Key user scenarios were elaborated both in terms of threat analysis and legal challenges. Moreover, KONFIDO developed a toolkit aiming to enhance the security of OpenNCP, the reference implementation framework. RESULTS: The main project outcomes are highlighted and the "Lessons Learned," the technical challenges and the EU context are detailed. CONCLUSIONS: The main "Lessons Learned" are summarized and a set of recommendations is provided, presenting the position of the KONFIDO consortium toward a robust EU-wide health data exchange infrastructure. To this end, the lack of infrastructure and technical capacity is highlighted, legal and policy challenges are identified and the need to focus on usability and semantic interoperability is emphasized. Regarding technical issues, an emphasis on transparent and standards-based development processes is recommended, especially for landmark software projects. Finally, promoting mentality change and knowledge dissemination is also identified as key step toward the development of secure cross-border health data exchange services.


Assuntos
Telemedicina , Atenção à Saúde , Humanos
3.
J Ultrasound ; 18(4): 349-60, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26550062

RESUMO

INTRODUCTION: Seroma is one of the most common complications after laparoscopic ventral hernia repair (LVHR), even if the incidence brought in literature is varying because definition and criterions of evaluation employed in the different studies are not always the same. This study proposes a classification for seroma after LVHR based on ultrasound findings, useful for an assessment of this complication. MATERIALS AND METHODS: On 93 patients submitted to LVHR an ultrasound of the abdominal wall after 3, 7, 15, 21 and 28 days and subsequently at a distance of 3 and 6 months was performed postoperatively. At each control site, sonomorphology characteristics and size of seroma (if present) were noted. RESULTS: At the end of the study using ultrasound findings obtained, a classification scheme for seroma articulated into three groups based on the parameters detected (site, sonomorphology character and volume) was developed, each of which is subdivided into five different classes to which a precise score is assigned. From the sum of the scores assigned, a value (between 3 and 15) that represents a prognostic index (PI) is obtained. A low PI is typical of small asymptomatic seroma that resolves spontaneously in a short time and without the need for invasive therapies; a high PI is typical of more or less symptomatic voluminous seroma that tends to persist for long periods and which often requires an interventional therapeutic approach. CONCLUSIONS: This proposed classification helps to perform a precise nosological assessment of seroma after LVHR, allowing the surgeon to predict the clinical and temporal evolution of this complication and to plan appropriate therapy from time to time. Furthermore this classification can represent a tool to assess the uniqueness of seroma formation in relation to surgical technique used, to the type of material employed and to the method of mesh fixing.

4.
Nanoscale ; 6(2): 706-10, 2014 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-24284778

RESUMO

The fabrication of future nanoscale semiconductor devices calls for precise placement of dopant atoms into their crystal lattice. Monolayer doping combined with a conventional spike annealing method provides a bottom-up approach potentially viable for large scale production. While the diffusion of the dopant was demonstrated at the start of the method, more sophisticated techniques are required in order to understand the diffusion, at the near surface, of P and contaminants such as C and O carried by the precursor, not readily accessible to direct time-of-flight secondary ion mass spectrometry measurements. By employing atom probe tomography, we report on the behavior of dopant and contaminants introduced by the molecular monolayer doping method into the first nanometers. The unwanted diffusion of C and O-related molecules is revealed and it is shown that for C and O it is limited to the first monolayers, where Si-C bonding formation is also observed, irrespective of the spike annealing temperature. From the perspective of large scale employment, our results suggest the benefits of adding a further process to the monolayer doping combined with spike annealing method, which consists of removing a sacrificial Si layer to eliminate contaminants.

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