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1.
Nat Commun ; 11(1): 3923, 2020 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-32782264

RESUMO

Machine learning promises to revolutionize clinical decision making and diagnosis. In medical diagnosis a doctor aims to explain a patient's symptoms by determining the diseases causing them. However, existing machine learning approaches to diagnosis are purely associative, identifying diseases that are strongly correlated with a patients symptoms. We show that this inability to disentangle correlation from causation can result in sub-optimal or dangerous diagnoses. To overcome this, we reformulate diagnosis as a counterfactual inference task and derive counterfactual diagnostic algorithms. We compare our counterfactual algorithms to the standard associative algorithm and 44 doctors using a test set of clinical vignettes. While the associative algorithm achieves an accuracy placing in the top 48% of doctors in our cohort, our counterfactual algorithm places in the top 25% of doctors, achieving expert clinical accuracy. Our results show that causal reasoning is a vital missing ingredient for applying machine learning to medical diagnosis.


Assuntos
Confiabilidade dos Dados , Diagnóstico , Aprendizado de Máquina , Algoritmos , Teorema de Bayes , Coleta de Dados , Tomada de Decisões , Diagnóstico por Computador , Doença , Humanos , Modelos Estatísticos
2.
BMC Bioinformatics ; 21(1): 339, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32736513

RESUMO

BACKGROUND: It has been widely accepted that long non-coding RNAs (lncRNAs) play important roles in the development and progression of human diseases. Many association prediction models have been proposed for predicting lncRNA functions and identifying potential lncRNA-disease associations. Nevertheless, among them, little effort has been attempted to measure lncRNA functional similarity, which is an essential part of association prediction models. RESULTS: In this study, we presented an lncRNA functional similarity calculation model, IDSSIM for short, based on an improved disease semantic similarity method, highlight of which is the introduction of information content contribution factor into the semantic value calculation to take into account both the hierarchical structures of disease directed acyclic graphs and the disease specificities. IDSSIM and three state-of-the-art models, i.e., LNCSIM1, LNCSIM2, and ILNCSIM, were evaluated by applying their disease semantic similarity matrices and the lncRNA functional similarity matrices, as well as corresponding matrices of human lncRNA-disease associations coming from either lncRNADisease database or MNDR database, into an association prediction method WKNKN for lncRNA-disease association prediction. In addition, case studies of breast cancer and adenocarcinoma were also performed to validate the effectiveness of IDSSIM. CONCLUSIONS: Results demonstrated that in terms of ROC curves and AUC values, IDSSIM is superior to compared models, and can improve accuracy of disease semantic similarity effectively, leading to increase the association prediction ability of the IDSSIM-WKNKN model; in terms of case studies, most of potential disease-associated lncRNAs predicted by IDSSIM can be confirmed by databases and literatures, implying that IDSSIM can serve as a promising tool for predicting lncRNA functions, identifying potential lncRNA-disease associations, and pre-screening candidate lncRNAs to perform biological experiments. The IDSSIM code, all experimental data and prediction results are available online at https://github.com/CDMB-lab/IDSSIM .


Assuntos
Algoritmos , Biologia Computacional/métodos , Doença/genética , Modelos Genéticos , RNA Longo não Codificante/genética , Semântica , Adenocarcinoma/genética , Área Sob a Curva , Neoplasias da Mama/genética , Bases de Dados Genéticas , Feminino , Humanos , Curva ROC
3.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(7): 1165-1170, 2020 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-32741189

RESUMO

In recent years, the research of spatiotemporal clustering of disease is attracting more and more attention, which plays an important role in understanding the temporal and spatial distribution characteristics of diseases, and can provide references for the etiology exploration and prevention and control of diseases. In order to better understand the research methods of spatiotemporal clustering of diseases and its application progress, this paper summarizes the statistical methods commonly used in relevant researches at demestic and abroad from three aspects of temporal clustering, spatial clustering and spatiotemporal clustering of diseases.


Assuntos
Pesquisa Biomédica/tendências , Doença , Análise por Conglomerados , Humanos , Análise Espaço-Temporal
4.
Cuad. Hosp. Clín ; 61(1): [12], jul. 2020. ilus.
Artigo em Espanhol | LILACS, LIBOCS | ID: biblio-1118976

RESUMO

PROPÓSITO: este artículo se realizó para contribuir con la difusión del conocimiento sobre el COVID-19 en la lengua hispana. HALLAZGOS: el SARS-CoV-2 fue descubierto en diciembre del 2019 y se difundió mundialmente desde entonces; el 11 de marzo de 2020 la OMS declaró globalmente estado de pandemia. Mientras fue incrementando la gravedad y frecuencia del COVID-19 en el mundo, la comunidad científica trabajó arduamente produciendo evidencia capaz de dilucidar los detalles de esta patología. Esta serie de artículos pretende agregar información lo más actualizada posible, interpretándola y adaptándola a la realidad boliviana. SUMARIO: la elaboración de este artículo está basado en información conocida sobre la historia de la aparición de esta nueva enfermedad e información vigente y actualizada sobre las características fisiopatológicas descritas en la literatura mundial


Assuntos
Doença , Infecções por Coronavirus , História , Patologia , Informação , Literatura
5.
Clin Ter ; 171(4): e340-e345, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32614369

RESUMO

BACKGROUND AND AIMS: Elderly may suffer from different pathologies during their detention in jail because of their age. Conditions in jails were tough and adapting to that life could be problematic for the elder population. This article aimed to analyse the pathologies and health conditions in a sample of elder inmates from Italy. METHODS: The sample was composed by 94 elderly inmates. The research is multicentric. We selected jails from the cities of Bari, Taranto, Foggia, Lecce, Brescia, Bergamo, Cremona and Mantua. The study was conducted by interviewing the prisoners over 60 years of age, in the period between September and December 2017. RESULTS: 64% of the sample was in a "Not Optimal" health status. Most of pathologies were Cardiac pathologies (23.4%), Diabetes (12.8 %) and Surgery (9.6%). Statistically significant differences were found for heart disease (p=0.02) and Neoplasia (p=0.025) in the prison of Bari compared to all the other prisons. Statistically significant differences were found for Hypertension in Foggia and Taranto prisons compared to all the other (p=0.023). Furthermore, 18.1% of inmates ended up having an addiction. CONCLUSIONS: Our analysis showed that in our sample physical problems were more frequent than psychological one. In fact, in spite of in the literature there was a high prevalence of mental health problems among elderly inmates, we did not find this result. However, stress conditions may increase the risk of pathologies: for example, being in jail and adapt to new hard environment may increase the risk of getting sick. Heart disease pathologies and diabetes were very common in our sample as confirmed by the literature.


Assuntos
Envelhecimento , Nível de Saúde , Prisioneiros , Idoso , Estudos Transversais , Doença , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estresse Psicológico
6.
Rev. Hosp. Ital. B. Aires (2004) ; 40(2): 76-78, jun. 2020.
Artigo em Espanhol | LILACS | ID: biblio-1102743

RESUMO

Se refiere aquí una experiencia vivida en la convalecencia de una enfermedad por un cirujano cardíaco en un hospital con clientela cerrada, en una época en que no existían otros servicios en la ciudad y habiendo sido él mismo el "fundador" del Servicio, debiendo practicar cirugía de revascularización coronaria. La enfermedad, definitivamente, constituye una nueva dimensión de la sensibilidad, a veces carente de razonamiento según Broeckman, o al decir de Lolas Strepke "falla la teorización del rol de estar enfermo", y eso es lo que introduce a los médicos en el laberinto. Nos preguntamos finalmente: ¿Quién se ocupa del "cuidado del médico", o sea, del "cuidado del cuidador"? Se concluye que, por lo general, el médico, estando enfermo, no tiene imagen real de su propia enfermedad. Falta analizar los aspectos narcisistas psicológicos de los cirujanos. (AU)


What is reported here is an experience lived in the convalescence of a disease by a cardiac surgeon within a hospital of closed clientele, at a time when there were no other services in the city and having been himself the "founder" of that same service, having to practice coronary revascularization. Illness definitely constitutes a new dimension of sensitivity, sometimes lacking in reasoning according to Broeckman, or as Lolas Strepke says "the theorization on the role of being sick fails", and that is what makes physicians end up in a labyrinth. So finally, we ask ourselves, who deals with the "care of the doctor" or the "care of the caregiver"? It is concluded that generally the doctor, being sick, has no realistic image of his own illness. We lack an analysis of the psychological narcissistic aspects of surgeons. (AU)


Assuntos
Humanos , Masculino , Feminino , Temas Bioéticos , Cirurgiões/psicologia , Doença/psicologia , Cuidadores/psicologia , Erros Médicos/ética , Cirurgiões/ética , Presenteísmo/ética , Narcisismo
7.
RECIIS (Online) ; 14(2): 502-514, abr.-jun. 2020.
Artigo em Português | LILACS | ID: biblio-1102936

RESUMO

Este artigo volta-se para os processos simbólicos que, frente à iminência do adoecimento e da morte, fazem emergir no imaginário poderosas narrativas que se dinamizam em mitos. Elege, para isso, as imagens simbólicas sobre a lepra que circundam o mito do Papa-Figo ­ criatura fantástica, ele é representado por ricos e poderosos que, contaminados, fariam de tudo para recuperar sua saúde; inclusive consumir vísceras de crianças sequestradas. Em um percurso sincrônico e diacrônico, relacionamos relatos históricos e folclóricos com narrativas contemporâneas: vídeos de exploração à casa da 'viúva Papa-Figo'. Nesta leitura simbólica, exploramos a recorrência dos símbolos de sangue, fígado, poço, poder, dinheiro e de um Outro misterioso, mostrando que o medo da doença e suas consequências físicas e sociais nos movimentam arquetipicamente, despertando relações ancestrais que nos conectam com o plano da experiência humana.


This article is focused on the symbolic processes that, in the face of the imminence of illness and death, make powerful narratives emerge in the imaginary, which are symbolized by myths. For this purpose, we center on the symbolic images on leprosy that surround the Brazilian myth of the Papa-Figo - a fantastic creature represented by the rich and powerful people which were contaminated and would do anything to recover from the illness and back to their health; including consuming the entrails of kidnapped children. In a synchronic and diachronic journey, we related historical and folkloric reports to contemporary narratives: urban exploration videos exploring the abandoned house of the 'Papa-Figo widow'. In this symbolic reading, we explore the recurrence of symbols linked to blood, liver, well, power, money and the mysterious Other, showing that the fear of disease and its physical and social consequences move us archetypically, awakening ancestral relationships that connect us to the experience human level.


Este artículo se centra en los procesos simbólicos que, en vista de la inminencia de la enfermedad y de la muerte, hacen que surjan narrativas poderosas en el imaginario simbolizadas en mitos. Para este propósito, elegimos las imágenes simbólicas sobre la lepra que rodean el mito brasileño llamado Papa-Figo, una criatura fantástica representada por personas ricas y poderosas que, contaminadas con la enfermedad, harían cualquier cosa para recuperar su salud; incluyendo el consumo de las entrañas de niños secuestrados. En un camino sincrónico y diacrónico, relacionamos los relatos históricos y folclóricos con narrativas contemporáneas: vídeos de exploración urbana a la casa de la 'viuda Papa-Figo'. En esta lectura simbólica exploramos la recurrencia de símbolos vinculados a la sangre, al hígado, al pozo, al poder, al dinero y al Otro misterioso, mostrando que el miedo a la enfermedad y sus consecuencias físicas y sociales nos mueven arquetípicamente, despertando relaciones ancestrales por las cuales nos conectamos con el plano de la experiencia humana.


Assuntos
Humanos , Religião e Medicina , Sangue , Pandemias , Criaturas Lendárias , Hanseníase , Doença , Narração , Mídia Audiovisual , Mídias Sociais , Fígado
8.
Soins ; 65(843-844): 37-39, 2020.
Artigo em Francês | MEDLINE | ID: mdl-32563506

RESUMO

When the body fails a person's foundations are damaged. The wait for a diagnosis, the physical pain, the chronic disease weaken the patient who may be overwhelmed by fears and anxiety. For patients from another country, this distressing experience adds to their vulnerability inherent to the separation from the home country the effects of which are intensified when illness strikes.


Assuntos
Doença/psicologia , Migrantes/psicologia , Ansiedade , Características Culturais , Medo , Humanos , Angústia Psicológica
9.
Stud Health Technol Inform ; 270: 267-271, 2020 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-32570388

RESUMO

Information relevant to pharmacogenomics studies is available in several open databases, which makes it difficult to synthetize the available data. Within the PractikPharma project, several databases were integrated to PGxLOD, a resource dedicated to the generation and verification of pharmacogenomic influence on drug responses. The Comparative Toxicogenomic Database (CTD) describes the toxic effects of many chemicals on living species based on the literature. Since drugs are peculiar chemicals and side effects are peculiar toxic effects, we aimed at extracting information from CTD that matches drug side effects in the human specie.


Assuntos
Doença/etiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Substâncias Perigosas/toxicidade , Farmacogenética , Toxicogenética , Bases de Dados Factuais , Doença/genética , Humanos , Pesquisa , Integração de Sistemas
10.
Chiropr Man Therap ; 28(1): 24, 2020 05 11.
Artigo em Inglês | MEDLINE | ID: covidwho-232473

RESUMO

BACKGROUND: Internet analytics are increasingly being integrated into public health regulation. One specific application is to monitor compliance of website and social media activity with respect to jurisdictional regulations. These data may then identify breaches of compliance and inform disciplinary actions. Our study aimed to evaluate the novel use of internet analytics by a Canadian chiropractic regulator to determine their registrants compliance with three regulations related to specific health conditions, pregnancy conditions and most recently, claims of improved immunity during the COVID-19 crisis. METHODS: A customized internet search tool (Market Review Tool, MRT) was used by the College of Chiropractors of British Columbia (CCBC), Canada to audit registrants websites and social media activity. The audits extracted words whose use within specific contexts is not permitted under CCBC guidelines. The MRT was first used in October of 2018 to identify words related to specific health conditions. The MRT was again used in December 2019 for words related to pregnancy and most recently in March 2020 for words related to COVID-19. In these three MRT applications, potential cases of word misuse were evaluated by the regulator who then notified the practitioner to comply with existing regulations by a specific date. The MRT was then used on that date to determine compliance. Those found to be non-compliant were referred to the regulator's inquiry committee. We mapped this process and reported the outcomes with permission of the regulator. RESULTS: In September 2018, 250 inappropriate mentions of specific health conditions were detected from approximately 1250 registrants with 2 failing to comply. The second scan for pregnancy related terms of approximately1350 practitioners revealed 83 inappropriate mentions. Following notification, all 83 cases were compliant within the specified timeframe. Regarding COVID-19 related words, 97 inappropriate mentions of the word "immune" were detected from 1350 registrants with 7 cases of non-compliance. CONCLUSION: Internet analytics are an effective way for regulators to monitor internet activity to protect the public from misleading statements. The processes described were effective at bringing about rapid practitioner compliance. Given the increasing volume of internet activity by healthcare professionals, internet analytics are an important addition for health care regulators to protect the public they serve.


Assuntos
Quiroprática/legislação & jurisprudência , Comunicação , Internet , Saúde Pública/legislação & jurisprudência , Canadá/epidemiologia , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/imunologia , Doença , Feminino , Humanos , Pandemias , Pneumonia Viral/epidemiologia , Pneumonia Viral/imunologia , Gravidez
11.
PLoS One ; 15(5): e0233438, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32459809

RESUMO

Researchers and clinicians face a significant challenge in keeping up-to-date with the rapid rate of new associations between genetic mutations and diseases. To remedy this problem, this research mined the ClinicalTrials.gov corpus to extract relevant biological insights, produce unique reports to summarize findings, and make the meta-data available via APIs. An automated text-analysis pipeline performed the following features: parsing the ClinicalTrials.gov files, extracting and analyzing mutations from the corpus, mapping clinical trials to Human Phenotype Ontology (HPO), and finding associations between clinical trials and HPO nodes. Unique reports were created for each mutation (SNPs and protein mutations) mentioned in the corpus, as well as for each clinical trial that references a mutation. These reports, which have been run over multiple time points, along with APIs to access meta-data, are freely available at http://snpminertrials.com. Additionally, HPO was used to normalize disease terms and associate clinical trials with relevant genes. The creation of the pipeline and reports, the association of clinical trials with HPO terms, and the insights, public repository, and APIs produced are all novel in this work. The freely-available resources present relevant biological information and novel insights between biomedical entities in a robust and accessible manner, mitigating the challenge of being informed about new associations between mutations, genes, and diseases.


Assuntos
Ensaios Clínicos como Assunto , Mineração de Dados/métodos , Mutação , Ontologias Biológicas , Doença/genética , Humanos , Internet , Fenótipo , Terminologia como Assunto
12.
PLoS Comput Biol ; 16(5): e1007775, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32413045

RESUMO

The human genome harbors a variety of genetic variations. Single-nucleotide changes that alter amino acids in protein-coding regions are one of the major causes of human phenotypic variation and diseases. These single-amino acid variations (SAVs) are routinely found in whole genome and exome sequencing. Evaluating the functional impact of such genomic alterations is crucial for diagnosis of genetic disorders. We developed DeepSAV, a deep-learning convolutional neural network to differentiate disease-causing and benign SAVs based on a variety of protein sequence, structural and functional properties. Our method outperforms most stand-alone programs, and the version incorporating population and gene-level information (DeepSAV+PG) has similar predictive power as some of the best available. We transformed DeepSAV scores of rare SAVs in the human population into a quantity termed "mutation severity measure" for each human protein-coding gene. It reflects a gene's tolerance to deleterious missense mutations and serves as a useful tool to study gene-disease associations. Genes implicated in cancer, autism, and viral interaction are found by this measure as intolerant to mutations, while genes associated with a number of other diseases are scored as tolerant. Among known disease-associated genes, those that are mutation-intolerant are likely to function in development and signal transduction pathways, while those that are mutation-tolerant tend to encode metabolic and mitochondrial proteins.


Assuntos
Doença/genética , Previsões/métodos , Genoma Humano/genética , Alelos , Sequência de Aminoácidos/genética , Biologia Computacional/métodos , Aprendizado Profundo , Redes Reguladoras de Genes/genética , Humanos , Mutação/genética , Mutação de Sentido Incorreto/genética , Rede Nervosa , Fases de Leitura Aberta/genética , Análise de Sequência/métodos , Sequenciamento Completo do Exoma/métodos
13.
Nat Commun ; 11(1): 2073, 2020 04 29.
Artigo em Inglês | MEDLINE | ID: mdl-32350270

RESUMO

Functional variomics provides the foundation for personalized medicine by linking genetic variation to disease expression, outcome and treatment, yet its utility is dependent on appropriate assays to evaluate mutation impact on protein function. To fully assess the effects of 106 missense and nonsense variants of PTEN associated with autism spectrum disorder, somatic cancer and PTEN hamartoma syndrome (PHTS), we take a deep phenotypic profiling approach using 18 assays in 5 model systems spanning diverse cellular environments ranging from molecular function to neuronal morphogenesis and behavior. Variants inducing instability occur across the protein, resulting in partial-to-complete loss-of-function (LoF), which is well correlated across models. However, assays are selectively sensitive to variants located in substrate binding and catalytic domains, which exhibit complete LoF or dominant negativity independent of effects on stability. Our results indicate that full characterization of variant impact requires assays sensitive to instability and a range of protein functions.


Assuntos
Doença/genética , Modelos Genéticos , Mutação de Sentido Incorreto/genética , PTEN Fosfo-Hidrolase/genética , Animais , Comportamento Animal , Caenorhabditis elegans/fisiologia , Células Cultivadas , Dendritos/fisiologia , Drosophila/genética , Drosophila/crescimento & desenvolvimento , Ensaios Enzimáticos , Células HEK293 , Humanos , Neoplasias/genética , Sistema Nervoso/crescimento & desenvolvimento , Fosforilação , Estabilidade Proteica , Proteínas Proto-Oncogênicas c-akt/metabolismo , Células Piramidais/metabolismo , Ratos Sprague-Dawley , Saccharomyces cerevisiae/metabolismo
15.
BMC Bioinformatics ; 21(1): 176, 2020 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-32366225

RESUMO

BACKGROUND: As regulators of gene expression, microRNAs (miRNAs) are increasingly recognized as critical biomarkers of human diseases. Till now, a series of computational methods have been proposed to predict new miRNA-disease associations based on similarity measurements. Different categories of features in miRNAs are applied in these methods for miRNA-miRNA similarity calculation. Benchmarking tests on these miRNA similarity measures are warranted to assess their effectiveness and robustness. RESULTS: In this study, 5 categories of features, i.e. miRNA sequences, miRNA expression profiles in cell-lines, miRNA expression profiles in tissues, gene ontology (GO) annotations of miRNA target genes and Medical Subject Heading (MeSH) terms of miRNA-associated diseases, are collected and similarity values between miRNAs are quantified based on these feature spaces, respectively. We systematically compare the 5 similarities from multi-statistical views. Furthermore, we adopt a rule-based inference method to test their performance on miRNA-disease association predictions with the similarity measurements. Comprehensive comparison is made based on leave-one-out cross-validations and a case study. Experimental results demonstrate that the similarity measurement using MeSH terms performs best among the 5 measurements. It should be noted that the other 4 measurements can also achieve reliable prediction performance. The best-performed similarity measurement is used for new miRNA-disease association predictions and the inferred results are released for further biomedical screening. CONCLUSIONS: Our study suggests that all the 5 features, even though some are restricted by data availability, are useful information for inferring novel miRNA-disease associations. However, biased prediction results might be produced in GO- and MeSH-based similarity measurements due to incomplete feature spaces. Similarity fusion may help produce more reliable prediction results. We expect that future studies will provide more detailed information into the 5 feature spaces and widen our understanding about disease pathogenesis.


Assuntos
Doença/genética , MicroRNAs/genética , Algoritmos , Biomarcadores/análise , Biologia Computacional/métodos , Ontologia Genética , Humanos , MicroRNAs/metabolismo , Prognóstico
16.
Chiropr Man Therap ; 28(1): 24, 2020 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-32393394

RESUMO

BACKGROUND: Internet analytics are increasingly being integrated into public health regulation. One specific application is to monitor compliance of website and social media activity with respect to jurisdictional regulations. These data may then identify breaches of compliance and inform disciplinary actions. Our study aimed to evaluate the novel use of internet analytics by a Canadian chiropractic regulator to determine their registrants compliance with three regulations related to specific health conditions, pregnancy conditions and most recently, claims of improved immunity during the COVID-19 crisis. METHODS: A customized internet search tool (Market Review Tool, MRT) was used by the College of Chiropractors of British Columbia (CCBC), Canada to audit registrants websites and social media activity. The audits extracted words whose use within specific contexts is not permitted under CCBC guidelines. The MRT was first used in October of 2018 to identify words related to specific health conditions. The MRT was again used in December 2019 for words related to pregnancy and most recently in March 2020 for words related to COVID-19. In these three MRT applications, potential cases of word misuse were evaluated by the regulator who then notified the practitioner to comply with existing regulations by a specific date. The MRT was then used on that date to determine compliance. Those found to be non-compliant were referred to the regulator's inquiry committee. We mapped this process and reported the outcomes with permission of the regulator. RESULTS: In September 2018, 250 inappropriate mentions of specific health conditions were detected from approximately 1250 registrants with 2 failing to comply. The second scan for pregnancy related terms of approximately1350 practitioners revealed 83 inappropriate mentions. Following notification, all 83 cases were compliant within the specified timeframe. Regarding COVID-19 related words, 97 inappropriate mentions of the word "immune" were detected from 1350 registrants with 7 cases of non-compliance. CONCLUSION: Internet analytics are an effective way for regulators to monitor internet activity to protect the public from misleading statements. The processes described were effective at bringing about rapid practitioner compliance. Given the increasing volume of internet activity by healthcare professionals, internet analytics are an important addition for health care regulators to protect the public they serve.


Assuntos
Quiroprática/legislação & jurisprudência , Comunicação , Internet , Saúde Pública/legislação & jurisprudência , Canadá/epidemiologia , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/imunologia , Doença , Feminino , Humanos , Pandemias , Pneumonia Viral/epidemiologia , Pneumonia Viral/imunologia , Gravidez
17.
BMC Bioinformatics ; 21(1): 180, 2020 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-32393162

RESUMO

BACKGROUND: In recent years, increasing evidences have indicated that long non-coding RNAs (lncRNAs) are deeply involved in a wide range of human biological pathways. The mutations and disorders of lncRNAs are closely associated with many human diseases. Therefore, it is of great importance to predict potential associations between lncRNAs and complex diseases for the diagnosis and cure of complex diseases. However, the functional mechanisms of the majority of lncRNAs are still remain unclear. As a result, it remains a great challenge to predict potential associations between lncRNAs and diseases. RESULTS: Here, we proposed a new method to predict potential lncRNA-disease associations. First, we constructed a bipartite network based on known associations between diseases and lncRNAs/protein coding genes. Then the cluster association scores were calculated to evaluate the strength of the inner relationships between disease clusters and gene clusters. Finally, the gene-disease association scores are defined based on disease-gene cluster association scores and used to measure the strength for potential gene-disease associations. CONCLUSIONS: Leave-One Out Cross Validation (LOOCV) and 5-fold cross validation tests were implemented to evaluate the performance of our method. As a result, our method achieved reliable performance in the LOOCV (AUCs of 0.8169 and 0.8410 based on Yang's dataset and Lnc2cancer 2.0 database, respectively), and 5-fold cross validation (AUCs of 0.7573 and 0.8198 based on Yang's dataset and Lnc2cancer 2.0 database, respectively), which were significantly higher than the other three comparative methods. Furthermore, our method is simple and efficient. Only the known gene-disease associations are exploited in a graph manner and further new gene-disease associations can be easily incorporated in our model. The results for melanoma and ovarian cancer have been verified by other researches. The case studies indicated that our method can provide informative clues for further investigation.


Assuntos
Biologia Computacional/métodos , Doença/genética , Predisposição Genética para Doença , RNA Longo não Codificante/genética , Algoritmos , Área Sob a Curva , Análise por Conglomerados , Humanos , Neoplasias/genética
18.
Adv Exp Med Biol ; 1253: 3-55, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32445090

RESUMO

Epigenetic mechanisms, which include DNA methylation, histone modification, and microRNA (miRNA), can produce heritable phenotypic changes without a change in DNA sequence. Disruption of gene expression patterns which are governed by epigenetics can result in autoimmune diseases, cancers, and various other maladies. Mechanisms of epigenetics include DNA methylation (and demethylation), histone modifications, and non-coding RNAs such as microRNAs. Compared to numerous studies that have focused on the field of genetics, research on epigenetics is fairly recent. In contrast to genetic changes, which are difficult to reverse, epigenetic aberrations can be pharmaceutically reversible. The emerging tools of epigenetics can be used as preventive, diagnostic, and therapeutic markers. With the development of drugs that target the specific epigenetic mechanisms involved in the regulation of gene expression, development and utilization of epigenetic tools are an appropriate and effective approach that can be clinically applied to the treatment of various diseases.


Assuntos
Doença/genética , Epigênese Genética , Saúde , Animais , Metilação de DNA , Epigenômica , Código das Histonas , Humanos , MicroRNAs
19.
Adv Exp Med Biol ; 1253: 57-94, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32445091

RESUMO

The study of epigenetics has its roots in the study of organism change over time and response to environmental change, although over the past several decades the definition has been formalized to include heritable alterations in gene expression that are not a result of alterations in underlying DNA sequence. In this chapter, we discuss first the history and milestones in the 100+ years of epigenetic study, including early discoveries of DNA methylation, histone posttranslational modification, and noncoding RNA. We then discuss how epigenetics has changed the way that we think of both health and disease, offering as examples studies examining the epigenetic contributions to aging, including the recent development of an epigenetic "clock", and explore how antiaging therapies may work through epigenetic modifications. We then discuss a nonpathogenic role for epigenetics in the clinic: epigenetic biomarkers. We conclude by offering two examples of modern state-of-the-art integrated multi-omics studies of epigenetics in disease pathogenesis, one which sought to capture shared mechanisms among multiple diseases, and another which used epigenetic big data to better understand the pathogenesis of a single tissue from one disease.


Assuntos
Doença/genética , Epigênese Genética , Epigenômica , Animais , Metilação de DNA , Código das Histonas , Humanos , RNA não Traduzido
20.
Adv Exp Med Biol ; 1239: 245-316, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32451863

RESUMO

Myosins constitute a superfamily of actin-based molecular motor proteins that mediates a variety of cellular activities including muscle contraction, cell migration, intracellular transport, the formation of membrane projections, cell adhesion, and cell signaling. The 12 myosin classes that are expressed in humans share sequence similarities especially in the N-terminal motor domain; however, their enzymatic activities, regulation, ability to dimerize, binding partners, and cellular functions differ. It is becoming increasingly apparent that defects in myosins are associated with diseases including cardiomyopathies, colitis, glomerulosclerosis, neurological defects, cancer, blindness, and deafness. Here, we review the current state of knowledge regarding myosins and disease.


Assuntos
Doença , Miosinas , Transporte Biológico , Adesão Celular , Movimento Celular , Humanos , Transdução de Sinais
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