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1.
Mol Ecol ; 31(3): 736-751, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34192383

RESUMO

Transmissible cancers are parasitic malignant cell lineages that have acquired the ability to infect new hosts from the same species, or sometimes related species. First described in dogs and Tasmanian devils, transmissible cancers were later discovered in some marine bivalves affected by a leukaemia-like disease. In Mytilus mussels, two lineages of bivalve transmissible neoplasia (BTN) have been described to date (MtrBTN1 and MtrBTN2), both of which emerged in a Mytilus trossulus founder individual. Here, we performed extensive screening of genetic chimerism, a hallmark of transmissible cancer, by genotyping 106 single nucleotide polymorphisms of 5,907 European Mytilus mussels. Genetic analysis allowed us to simultaneously obtain the genotype of hosts - Mytilus edulis, M. galloprovincialis or hybrids - and the genotype of tumours of heavily infected individuals. In addition, a subset of 222 individuals were systematically genotyped and analysed by histology to screen for possible nontransmissible cancers. We detected MtrBTN2 at low prevalence in M. edulis, and also in M. galloprovincialis and hybrids although at a much lower prevalence. No MtrBTN1 or new BTN were found, but eight individuals with nontransmissible neoplasia were observed at a single polluted site on the same sampling date. We observed a diversity of MtrBTN2 genotypes that appeared more introgressed or more ancestral than MtrBTN1 and reference healthy M. trossulus individuals. The observed polymorphism is probably due to somatic null alleles caused by structural variations or point mutations in primer-binding sites leading to enhanced detection of the host alleles. Despite low prevalence, two sublineages divergent by 10% fixed somatic null alleles and one nonsynonymous mtCOI (mitochondrial cytochrome oxidase I) substitution are cospreading in the same geographical area, suggesting a complex diversification of MtrBTN2 since its emergence and host species shift.


Assuntos
Mytilus edulis , Mytilus , Neoplasias , Animais , Cães , Europa (Continente) , Mytilus/genética , Mytilus edulis/genética , Prevalência
2.
J Biomed Inform ; 130: 104074, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35470079

RESUMO

Polypharmacy, the consuming of more than five drugs, is a public health problem. It can lead to many interactions and adverse drug reactions and is very expensive. Therapeutic guidelines for managing polypharmacy in the elderly have been issued, but are highly complex, limiting their use. Decision-support systems have therefore been developed to automate the execution of these guidelines, or to provide information about drugs adapted to the context of polypharmacy. These systems differ widely in terms of their technical design, knowledge sources and evaluation methods. We present here a scoping review of electronic systems for supporting the management, by healthcare providers, of polypharmacy in elderly patients. Most existing reviews have focused mainly on evaluation results, whereas the present review also describes the technical design of these systems and the methodologies for developing and evaluating them. A systematic bibliographic search identified 19 systems differing considerably in terms of their technical design (rule-based systems, documentary approach, mixed); outputs (textual report, alerts and/or visual approaches); and evaluations (impact on clinical practices, impact on patient outcomes, efficiency and/or user satisfaction). The evaluations performed are minimal (among all the systems identified, only one system has been evaluated according to all the criteria mentioned above) and no machine learning systems and/or conflict management systems were retrieved. This review highlights the need to develop new methodologies, combining various approaches for decision support system in polypharmacy.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Polimedicação , Idoso , Humanos
3.
BMC Genomics ; 22(1): 609, 2021 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-34372770

RESUMO

BACKGROUND: In the animal kingdom, mollusca is an important phylum of the Lophotrochozoa. However, few studies have investigated the molecular cascade of sex determination/early gonadal differentiation within this phylum. The oyster Crassostrea gigas is a sequential irregular hermaphrodite mollusc of economic, physiological and phylogenetic importance. Although some studies identified genes of its sex-determining/-differentiating pathway, this particular topic remains to be further deepened, in particular with regard to the expression patterns. Indeed, these patterns need to cover the entire period of sex lability and have to be associated to future sex phenotypes, usually impossible to establish in this sequential hermaphrodite. This is why we performed a gonadal RNA-Seq analysis of diploid male and female oysters that have not changed sex for 4 years, sampled during the entire time-window of sex determination/early sex differentiation (stages 0 and 3 of the gametogenetic cycle). This individual long-term monitoring gave us the opportunity to explain the molecular expression patterns in the light of the most statistically likely future sex of each oyster. RESULTS: The differential gene expression analysis of gonadal transcriptomes revealed that 9723 genes were differentially expressed between gametogenetic stages, and 141 between sexes (98 and 43 genes highly expressed in females and males, respectively). Eighty-four genes were both stage- and sex-specific, 57 of them being highly expressed at the time of sex determination/early sex differentiation. These 4 novel genes including Trophoblast glycoprotein-like, Protein PML-like, Protein singed-like and PREDICTED: paramyosin, while being supported by RT-qPCR, displayed sexually dimorphic gene expression patterns. CONCLUSIONS: This gonadal transcriptome analysis, the first one associated with sex phenotypes in C. gigas, revealed 57 genes highly expressed in stage 0 or 3 of gametogenesis and which could be linked to the future sex of the individuals. While further study will be needed to suggest a role for these factors, some could certainly be original potential actors involved in sex determination/early sex differentiation, like paramyosin and could be used to predict the future sex of oysters.


Assuntos
Crassostrea , Animais , Crassostrea/genética , Feminino , Perfilação da Expressão Gênica , Gônadas , Humanos , Masculino , Fenótipo , Filogenia , Diferenciação Sexual/genética , Transcriptoma
4.
J Biomed Inform ; 104: 103407, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32156641

RESUMO

The aim of eXplainable Artificial Intelligence (XAI) is to design intelligent systems that can explain their predictions or recommendations to humans. Such systems are particularly desirable for therapeutic decision support, because physicians need to understand rcommendations to have confidence in their application and to adapt them if required, e.g. in case of patient contraindication. We propose here an explainable and visual approach for decision support in antibiotic treatment, based on an ontology. There were three steps to our method. We first generated a tabular dataset from the ontology, containing features defined on various domains and n-ary features. A preference model was then learned from patient profiles, antibiotic features and expert recommendations found in clinical practice guidelines. This model made the implicit rationale of the expert explicit, including the way in which missing data was treated. We then visualized the preference model and its application to all antibiotics available on the market for a given clinical situation, using rainbow boxes, a recently developed technique for set visualization. The resulting preference model had an error rate of 3.5% on the learning data, and 5.2% on test data (10-fold validation). These findings suggest that our system can help physicians to prescribe antibiotics correctly, even for clinical situations not present in the guidelines (e.g. due to allergies or contraindications for the recommended treatment).


Assuntos
Inteligência Artificial , Sistemas de Apoio a Decisões Clínicas , Antibacterianos/uso terapêutico , Humanos , Aprendizagem
5.
BMC Med Inform Decis Mak ; 20(1): 261, 2020 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-33036603

RESUMO

BACKGROUND: Medical terminologies are commonly used in medicine. For instance, to answer a pharmacovigilance question, pharmacovigilance specialists (PVS) search in a pharmacovigilance database for reports in relation to a given drug. To do that, they first need to identify all MedDRA terms that might have been used to code an adverse reaction in the database, but terms may be numerous and difficult to select as they may belong to different parts of the hierarchy. In previous studies, three tools have been developed to help PVS identify and group all relevant MedDRA terms using three different approaches: forms, structured query-builder, and icons. Yet, a poor usability of the tools may increase PVS' workload and reduce their performance. This study aims to evaluate, compare and improve the three tools during two rounds of formative usability evaluation. METHODS: First, a cognitive walkthrough was performed. Based on the design recommendations obtained from this evaluation, designers made modifications to their tools to improve usability. Once this re-engineering phase completed, six PVS took part in a usability test: difficulties, errors and verbalizations during their interaction with the three tools were collected. Their satisfaction was measured through the System Usability Scale. The design recommendations issued from the tests were used to adapt the tools. RESULTS: All tools had usability problems related to the lack of guidance in the graphical user interface (e.g., unintuitive labels). In two tools, the use of the SNOMED CT to find MedDRA terms hampered their use because French PVS were not used to it. For the most obvious and common terms, the icons-based interface would appear to be more useful. For the less frequently used MedDRA terms or those distributed in different parts of the hierarchy, the structured query-builder would be preferable thanks to its great power and flexibility. The form-based tool seems to be a compromise. CONCLUSION: These evaluations made it possible to identify the strengths of each tool but also their weaknesses to address them before further evaluation. Next step is to assess the acceptability of tools and the expressiveness of their results to help identify and group MedDRA terms.


Assuntos
Sistemas de Notificação de Reações Adversas a Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Farmacovigilância , Systematized Nomenclature of Medicine , Humanos , Especialização
6.
Glob Chang Biol ; 23(7): 2831-2847, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-27885754

RESUMO

How temperate forests will respond to climate change is uncertain; projections range from severe decline to increased growth. We conducted field tests of sessile oak (Quercus petraea), a widespread keystone European forest tree species, including more than 150 000 trees sourced from 116 geographically diverse populations. The tests were planted on 23 field sites in six European countries, in order to expose them to a wide range of climates, including sites reflecting future warmer and drier climates. By assessing tree height and survival, our objectives were twofold: (i) to identify the source of differential population responses to climate (genetic differentiation due to past divergent climatic selection vs. plastic responses to ongoing climate change) and (ii) to explore which climatic variables (temperature or precipitation) trigger the population responses. Tree growth and survival were modeled for contemporary climate and then projected using data from four regional climate models for years 2071-2100, using two greenhouse gas concentration trajectory scenarios each. Overall, results indicated a moderate response of tree height and survival to climate variation, with changes in dryness (either annual or during the growing season) explaining the major part of the response. While, on average, populations exhibited local adaptation, there was significant clinal population differentiation for height growth with winter temperature at the site of origin. The most moderate climate model (HIRHAM5-EC; rcp4.5) predicted minor decreases in height and survival, while the most extreme model (CCLM4-GEM2-ES; rcp8.5) predicted large decreases in survival and growth for southern and southeastern edge populations (Hungary and Turkey). Other nonmarginal populations with continental climates were predicted to be severely and negatively affected (Bercé, France), while populations at the contemporary northern limit (colder and humid maritime regions; Denmark and Norway) will probably not show large changes in growth and survival in response to climate change.


Assuntos
Mudança Climática , Quercus/crescimento & desenvolvimento , Clima , Dinamarca , Europa (Continente) , França , Noruega
7.
Genet Sel Evol ; 49(1): 23, 2017 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-28201985

RESUMO

BACKGROUND: In France, two main diseases threaten Pacific oyster production. Since 2008, Crassostrea gigas spat have suffered massive losses due to the ostreid herpesvirus OsHV-1, and since 2012, significant mortalities in commercial-size adults have been related to infection by the bacterium Vibrio aestuarianus. The genetic basis for resistance to V. aestuarianus and OsHV-1 and the nature of the genetic correlation between these two traits were investigated by using 20 half-sib sire families, each containing two full-sib families. For each disease, controlled infectious challenges were conducted using naïve oysters that were 3 to 26 months old. In addition, siblings were tested under field, pond and raceway conditions to determine whether laboratory trials reflected mortality events that occur in the oyster industry. RESULTS: First, we estimated the genetic basis of resistance to V. aestuarianus in C. gigas. Susceptibility to the infection was low for oysters in spat stage but increased with later life stages. Second, we confirmed a strong genetic basis of resistance to OsHV-1 infection at early stages and demonstrated that it was also strong at later stages. Most families had increased resistance to OsHV-1 infection from the spat to adult stages, while others consistently showed low or high mortality rates related to OsHV-1 infection, regardless of the life stage. Our third main finding was the absence of genetic correlations between resistance to OsHV-1 infection and resistance to V. aestuarianus infection. CONCLUSIONS: Selective breeding to enhance resistance to OsHV-1 infection could be achieved through selective breeding at early stages and would not affect resistance to V. aestuarianus infection. However, our results suggest that the potential to select for improved resistance to V. aestuarianus is lower. Selection for dual resistance to OsHV-1 and V. aestuarianus infection in C. gigas might reduce the impact of these two major diseases by selecting families that have the highest breeding values for resistance to both diseases.


Assuntos
Crassostrea/genética , Resistência à Doença/genética , Vibrio/patogenicidade , Animais , Crassostrea/crescimento & desenvolvimento , Crassostrea/imunologia , Crassostrea/microbiologia
8.
J Biomed Inform ; 71: 58-69, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28549568

RESUMO

OBJECTIVE: When a new drug is marketed, physicians must decide whether they will consider it for their future practice. However, information about new drugs can be biased or hard to find. In this work, our objective was to study whether visual analytics could be used for comparing drug properties such as contraindications and adverse effects, and whether this visual comparison can help physicians to forge their own well-founded opinions about a new drug. MATERIALS AND METHODS: First, an ontology for comparative drug information was designed, based on the expectations expressed during focus groups comprised of physicians. Second, a prototype of a visual drug comparator website was developed. It implements several visualization methods: rainbow boxes (a new technique for overlapping set visualization), dynamic tables, bar charts and icons. Third, the website was evaluated by 22 GPs for four new drugs. We recorded the general satisfaction, the physician's decision whether to consider the new drug for future prescription, both before and after consulting the website, and their arguments to justify their choice. RESULTS: The prototype website permits the visual comparison of up to 10 drugs, including efficacy, contraindications, interactions, adverse effects, prices, dosage regimens,…All physicians found that the website allowed them to forge a well-founded opinion on the four new drugs. The physicians changed their decision about using a new drug in their future practice in 29 cases (out of 88) after consulting the website. DISCUSSION AND CONCLUSION: Visual analytics is a promising approach for presenting drug information and for comparing drugs. The visual comparison of drug properties allows physicians to forge their opinions on drugs. Since drug properties are available in reference texts, reviewed by public health agencies, it could contribute to the independent of drug information.


Assuntos
Contraindicações de Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Médicos , Estatística como Assunto , Gráficos por Computador , Humanos
9.
BMC Genomics ; 15: 171, 2014 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-24581176

RESUMO

BACKGROUND: The accessibility of high-throughput genotyping technologies has contributed greatly to the development of genomic resources in non-model organisms. High-density genotyping arrays have only recently been developed for some economically important species such as conifers. The potential for using genomic technologies in association mapping and breeding depends largely on the genome wide patterns of diversity and linkage disequilibrium in current breeding populations. This study aims to deepen our knowledge regarding these issues in maritime pine, the first species used for reforestation in south western Europe. RESULTS: Using a new map merging algorithm, we first established a 1,712 cM composite linkage map (comprising 1,838 SNP markers in 12 linkage groups) by bringing together three already available genetic maps. Using rigorous statistical testing based on kernel density estimation and resampling we identified cold and hot spots of recombination. In parallel, 186 unrelated trees of a mass-selected population were genotyped using a 12k-SNP array. A total of 2,600 informative SNPs allowed to describe historical recombination, genetic diversity and genetic structure of this recently domesticated breeding pool that forms the basis of much of the current and future breeding of this species. We observe very low levels of population genetic structure and find no evidence that artificial selection has caused a reduction in genetic diversity. By combining these two pieces of information, we provided the map position of 1,671 SNPs corresponding to 1,192 different loci. This made it possible to analyze the spatial pattern of genetic diversity (He) and long distance linkage disequilibrium (LD) along the chromosomes. We found no particular pattern in the empirical variogram of He across the 12 linkage groups and, as expected for an outcrossing species with large effective population size, we observed an almost complete lack of long distance LD. CONCLUSIONS: These results are a stepping stone for the development of strategies for studies in population genomics, association mapping and genomic prediction in this economical and ecologically important forest tree species.


Assuntos
Variação Genética , Genoma de Planta , Desequilíbrio de Ligação , Pinus/genética , Algoritmos , Mapeamento Cromossômico , Frequência do Gene , Ligação Genética , Genótipo , Técnicas de Genotipagem , Polimorfismo de Nucleotídeo Único
10.
New Phytol ; 201(3): 874-886, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24180459

RESUMO

Resistance to cavitation is a major determinant of plant survival under severe drought and can be used to quantify species adaptive potential. Interspecific variation in this key trait is well defined in woody species, but intraspecific variation (level and structure) resulting from standing genetic variation and phenotypic plasticity has never been determined. Combining for the first time in situ characterization of natural populations and two reciprocal common gardens in dry and wet sites, we estimated variance components (phenotypic, genetic, environmental, and genetic × environmental) of cavitation resistance based on 513 genotypes of a Mediterranean pine, Pinus pinaster. Despite the selected populations being climatically contrasted, phenotypic plasticity in resistance to cavitation remained low and was essentially attributed to family level. Between-population variation in cavitation resistance for both phenotypic and genetic variation was limited. These results strongly suggest that cavitation resistance is buffered against genetic and to a lesser extent environmental variation (canalization) in maritime pine. Consequently, in a drier world, the increasing drought tolerance of Pinus species might be severely constrained by the low level of cavitation resistance variation, resulting in a large-scale loss of productivity.


Assuntos
Variação Genética , Pinus/genética , Pinus/fisiologia , Xilema/fisiologia , Clima , Padrões de Herança/genética , Região do Mediterrâneo , Fenótipo , Análise de Componente Principal , Característica Quantitativa Herdável , Solo
11.
BMC Med Inform Decis Mak ; 14: 17, 2014 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-24618037

RESUMO

BACKGROUND: Visualization of Concepts in Medicine (VCM) is a compositional iconic language that aims to ease information retrieval in Electronic Health Records (EHR), clinical guidelines or other medical documents. Using VCM language in medical applications requires alignment with medical reference terminologies. Alignment from Medical Subject Headings (MeSH) thesaurus and International Classification of Diseases - tenth revision (ICD10) to VCM are presented here. This study aim was to evaluate alignment quality between VCM and other terminologies using different measures of inter-alignment agreement before integration in EHR. METHODS: For medical literature retrieval purposes and EHR browsing, the MeSH thesaurus and the ICD10, both organized hierarchically, were aligned to VCM language. Some MeSH to VCM alignments were performed automatically but others were performed manually and validated. ICD10 to VCM alignment was entirely manually performed. Inter-alignment agreement was assessed on ICD10 codes and MeSH descriptors, sharing the same Concept Unique Identifiers in the Unified Medical Language System (UMLS). Three metrics were used to compare two VCM icons: binary comparison, crude Dice Similarity Coefficient (DSCcrude), and semantic Dice Similarity Coefficient (DSCsemantic), based on Lin similarity. An analysis of discrepancies was performed. RESULTS: MeSH to VCM alignment resulted in 10,783 relations: 1,830 of which were manually performed and 8,953 were automatically inherited. ICD10 to VCM alignment led to 19,852 relations. UMLS gathered 1,887 alignments between ICD10 and MeSH. Only 1,606 of them were used for this study. Inter-alignment agreement using only validated MeSH to VCM alignment was 74.2% [70.5-78.0]CI95%, DSCcrude was 0.93 [0.91-0.94]CI95%, and DSCsemantic was 0.96 [0.95-0.96]CI95%. Discrepancy analysis revealed that even if two thirds of errors came from the reviewers, UMLS was nevertheless responsible for one third. CONCLUSIONS: This study has shown strong overall inter-alignment agreement between MeSH to VCM and ICD10 to VCM manual alignments. VCM icons have now been integrated into a guideline search engine (http://www.cismef.org) and a health terminologies portal (http://www.hetop.eu).


Assuntos
Armazenamento e Recuperação da Informação/normas , Terminologia como Assunto , Vocabulário Controlado , Registros Eletrônicos de Saúde/normas , Humanos , Classificação Internacional de Doenças/estatística & dados numéricos , Medical Subject Headings/estatística & dados numéricos , Unified Medical Language System/normas
12.
BMC Med Inform Decis Mak ; 14: 77, 2014 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-25158762

RESUMO

BACKGROUND: Clinical practice guidelines are useful for physicians, and guidelines are available on the Internet from various websites such as Vidal Recos. However, these guidelines are long and difficult to read, especially during consultation. Similar difficulties have been encountered with drug summaries of product characteristics. In a previous work, we have proposed an iconic language (called VCM, for Visualization of Concepts in Medicine) for representing patient conditions, treatments and laboratory tests, and we have used these icons to design a user interface that graphically indexes summaries of product characteristics. In the current study, our objective was to design and evaluate an iconic user interface for the consultation of clinical practice guidelines by physicians. METHODS: Focus groups of physicians were set up to identify the difficulties encountered when reading guidelines. Icons were integrated into Vidal Recos, taking human factors into account. The resulting interface includes a graphical summary and an iconic indexation of the guideline. The new interface was evaluated. We compared the response times and the number of errors recorded when physicians answered questions about two clinical scenarios using the interactive iconic interface or a textual interface. Users' perceived usability was evaluated with the System Usability Scale. RESULTS: The main difficulties encountered by physicians when reading guidelines were obtaining an overview and finding recommendations for patients corresponding to "particular cases". We designed a graphical interface for guideline consultation, using icons to identify particular cases and providing a graphical summary of the icons organized by anatomy and etiology. The evaluation showed that physicians gave clinical responses more rapidly with the iconic interface than the textual interface (25.2 seconds versus 45.6, p < 0.05). The physicians appreciated the new interface, and the System Usability Scale score value was 75 (between good and excellent). CONCLUSION: An interactive iconic interface can provide physicians with an overview of clinical practice guidelines, and can decrease the time required to access the content of such guidelines.


Assuntos
Gráficos por Computador , Aplicações da Informática Médica , Guias de Prática Clínica como Assunto , Interface Usuário-Computador , Humanos
13.
BMC Biol ; 11: 50, 2013 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-23597128

RESUMO

BACKGROUND: The availability of a large expressed sequence tags (EST) resource and recent advances in high-throughput genotyping technology have made it possible to develop highly multiplexed SNP arrays for multi-objective genetic applications, including the construction of meiotic maps. Such approaches are particularly useful in species with a large genome size, precluding the use of whole-genome shotgun assembly with current technologies. RESULTS: In this study, a 12 k-SNP genotyping array was developed for maritime pine from an extensive EST resource assembled into a unigene set. The offspring of three-generation outbred and inbred mapping pedigrees were then genotyped. The inbred pedigree consisted of a classical F2 population resulting from the selfing of a single inter-provenance (Landes x Corsica) hybrid tree, whereas the outbred pedigree (G2) resulted from a controlled cross of two intra-provenance (Landes x Landes) hybrid trees. This resulted in the generation of three linkage maps based on SNP markers: one from the parental genotype of the F2 population (1,131 markers in 1,708 centimorgan (cM)), and one for each parent of the G2 population (1,015 and 1,110 markers in 1,447 and 1,425 cM for the female and male parents, respectively). A comparison of segregation patterns in the progeny obtained from the two types of mating (inbreeding and outbreeding) led to the identification of a chromosomal region carrying an embryo viability locus with a semi-lethal allele. Following selfing and segregation, zygote mortality resulted in a deficit of Corsican homozygous genotypes in the F2 population. This dataset was also used to study the extent and distribution of meiotic recombination along the length of the chromosomes and the effect of sex and/or genetic background on recombination. The genetic background of trees in which meiotic recombination occurred was found to have a significant effect on the frequency of recombination. Furthermore, only a small proportion of the recombination hot- and cold-spots were common to all three genotypes, suggesting that the spatial pattern of recombination was genetically variable. CONCLUSION: This study led to the development of classical genomic tools for this ecologically and economically important species. It also identified a chromosomal region bearing a semi-lethal recessive allele and demonstrated the genetic variability of recombination rate over the genome.


Assuntos
Mapeamento Cromossômico , Genoma de Planta/genética , Endogamia , Meiose/genética , Pinus/genética , Recombinação Genética/genética , Alelos , Segregação de Cromossomos/genética , Cromossomos de Plantas/genética , Cruzamentos Genéticos , Genes de Plantas/genética , Ligação Genética , Loci Gênicos/genética , Marcadores Genéticos , Técnicas de Genotipagem , Polimorfismo de Nucleotídeo Único/genética , Reprodutibilidade dos Testes
14.
J Biomed Inform ; 46(1): 56-67, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22975315

RESUMO

To help clinicians read medical texts such as clinical practice guidelines or drug monographs, we proposed an iconic language called VCM. This language can use icons to represent the main medical concepts, including diseases, symptoms, treatments and follow-up procedures, by combining various pictograms, shapes and colors. However, the semantics of this language have not been formalized, and users may create inconsistent icons, e.g. by combining the "tumor" shape and the "sleeping" pictograms into a "tumor of sleeping" icon. This work aims to represent the VCM language using DLs and OWL for evaluating its semantics by reasoners, and in particular for determining inconsistent icons. We designed an ontology for formalized the semantics of VCM icons using the Protégé editor and scripts for translating the VCM lexicon in OWL. We evaluated the ability of the ontology to determine icon consistency for a set of 100 random icons. The evaluation showed good results for determining icon consistency, with a high sensitivity. The ontology may also be useful for the design of mapping between VCM and other medical terminologies, for generating textual labels for icons, and for developing user interfaces for creating VCM icons.


Assuntos
Semântica , Vocabulário Controlado
15.
Stud Health Technol Inform ; 186: 200-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23542998

RESUMO

Laboratory medicine is responsible for an important part of hospital expenditure. Providing appropriate decision support to laboratory test requesters at the point of care is one of the main incentives for implementing laboratory guidelines, which can improve medical care. Laboratory guidelines developed by local experts in the Parisian region and two national guidelines for dyslipidemia were analyzed to extract test ordering recommendations. Clinical conditions which can be a trigger to order or not to order laboratory tests were extracted and mapped with ICD10 and SNOMED CT: 43.1% of clinical conditions were matched by ICD10 whereas SNOMED CT covered 80.1% of these conditions. For the non-mapped conditions, the main problem was found to be the ambiguity of the terms used in the guidelines. Ordinal characteristics of some clinical conditions and using terms more specific than SNOMED CT were other causes of mapping failure. Applying consistent and explicit concepts in the development of guidelines would lead to better implementation. By resolving the guideline ambiguity, SNOMED CT is a good choice and covers almost all of the clinical conditions in laboratory guidelines which are needed to implement in a Clinical Decision Support System.


Assuntos
Sistemas de Apoio a Decisões Clínicas/normas , Fidelidade a Diretrizes/normas , Classificação Internacional de Doenças/normas , Laboratórios Hospitalares/normas , Guias de Prática Clínica como Assunto , Systematized Nomenclature of Medicine , Internacionalidade
16.
Stud Health Technol Inform ; 302: 726-730, 2023 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-37203478

RESUMO

Taking several medications at the same time is an increasingly common phenomenon in our society. The combination of drugs is certainly not without risk of potentially dangerous interactions. Taking into account all possible interactions is a very complex task as it is not yet known what all possible interactions between drugs and their types are. Machine learning based models have been developed to help with this task. However, the output of these models is not structured enough to be integrated in a clinical reasoning process on interactions. In this work, we propose a clinically relevant and technically feasible model and strategy for drug interactions.


Assuntos
Aprendizado de Máquina , Interações Medicamentosas
17.
Mol Ecol ; 21(23): 5646-55, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23110372

RESUMO

A key aim of evolutionary biology - inferring the action of natural selection on wild species - can be achieved by comparing neutral genetic differentiation between populations (F(ST)) with quantitative genetic variation (Q(ST)). Each of the three possible outcomes of comparisons of Q(ST) and F(ST) (Q(ST) > F(ST), Q(ST) = F(ST), Q(ST) < F(ST)) is associated with an inference (diversifying selection, genetic drift, uniform selection, respectively). However, published empirical and theoretical studies have focused on the Q(ST) > F(ST) outcome. We believe that this reflects the absence of a straightforward biological interpretation of the Q(ST) < F(ST) pattern. We here report recent evidence of this neglected evolutionary pattern, provide guidelines to its interpretation as either a canalization phenomenon or a consequence of uniform selection and discuss the significant importance this issue will have for the area of evolutionary biology.


Assuntos
Evolução Biológica , Modelos Genéticos , Seleção Genética , Animais , Drosophila/genética , Deriva Genética , Variação Genética , Genética Populacional
18.
Stud Health Technol Inform ; 180: 93-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22874159

RESUMO

Increasing physician adherence to the clinical practice guidelines (CPG) for infections should improve antibiotic prescription practices. The aim of this study was to present the decision elements of these CPG in an original interface to be implemented in the website "Antibiocarte". We manually analyzed all CPG available for ambulatory treatment of infections. We extracted all terms related to the antibiotic therapy decisions and grouped them into decision or action variables. We then modeled the antibiotic therapy decision process and designed an interface according to ergonomic principles. The interface consists of five fixed parts: a decision table, two information zones, a zone with the reasons for hospitalization, and a zone with situations not concerned by the CPG. All CPG could be implemented according to this model. The usability of the new interface was evaluated by ten general practitioners using the System Usability Scale (SUS) and found to be satisfactory and appropriate for clinical use.


Assuntos
Antibacterianos/uso terapêutico , Bases de Dados Factuais , Infecções/tratamento farmacológico , Internet , Guias de Prática Clínica como Assunto , Atenção Primária à Saúde/métodos , Interface Usuário-Computador , França , Humanos , Médicos de Atenção Primária
19.
Stud Health Technol Inform ; 294: 460-464, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-35612122

RESUMO

Potentially inappropriate medications (PIMs) have adverse health consequences, particularly in elderly patients. Various explicit criteria have been developed to detect PIMs. However, it is difficult to apply these criteria without the help of an electronic decision support tool. Programming these tools can be very complex. Indeed, for computer scientists it is difficult to understand medical issues and for clinicians it is difficult to program in a computer programming language. In this work we present Speak-PIM, a framework for formalizing the PIM's rules. Speak-PIM is based on a very simple semantics which is suitable for the declaration of PIMs without embarking on all the complexity of description logic or computer languages. It aims to offer an efficient collaboration between the computer scientists and clinicians.


Assuntos
Prescrição Inadequada , Lista de Medicamentos Potencialmente Inapropriados , Idoso , Humanos , Prescrição Inadequada/prevenção & controle
20.
Stud Health Technol Inform ; 290: 645-649, 2022 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-35673096

RESUMO

The aim of this paper is to propose a qualitative method for learning a model that represents the closest possible experts reasoning and strategies to provide recommendations of antibiotics. The learned model contains an integrity constraint and a preference formula. The former indicates the features that an antibiotic should have to be recommended. The later indicates the rank of recommendation of an antibiotic.


Assuntos
Aprendizagem , Resolução de Problemas , Antibacterianos/uso terapêutico
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