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  1 / 206517 MEDLINE  
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[PMID]:29430912
[Au] Autor:Marasanov AV; Valtseva EA
[Ti] Título:[Scientific potential of phenomics - functional direction of genetics].
[So] Source:Gig Sanit;95(9):805-10, 2016.
[Is] ISSN:0016-9900
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:In this paper on the based on the integration of known theories, doctrines and concepts - principles of consistency and self-regulation of physiological functions (Pavlov I.P., 1950), the theory offunctional systems (Anokhin P.K., 1973), the theory of adaptive reactions (Selye H., 1960 ; Garkavi LKh et al, 1979), the doctrine of the dominant (Ukhtomsky A.A., 1966), doctrine on health (Baevsky R.M.), doctrine on the body type of the human by Merlin VS. conception on the "the interrelationship between the function and genetic apparatus" by Meyerson F.Z., Pshennikova M.G., Platonov V.N., and others, there is proposed to select phenomics - functional division of genetics considering the poolability of specific mechanisms of the body in an integral system of the adaptive act in favor of the development of a personalized approach to the diagnosis and prevention of non-communicable diseases, increasing life expectancy of working age into the particular scientific direction. The task of phenomics is the establishment of the phenotypic characteristics of the person, norms of the response of systems of his body, determination of the deviation of the level of the functioning of the each system from the norm of its response and the elaboration of the tactics for the correction of the functional state of the organism (the optimization of its life activity), with taking into account the directedness of the interaction of body systems. The description of the shaping of the mechanism of stereotyped response of the organism generated an important contribution to the development of phenomics. Stereotyped response being initiated by the non-specific response of the body is aimed at the shaping of the activity of its systems after a fashion of norms of the activity, promotes the recovery of the specificity of the body, plays an important role in the establishment of cause-effect relations of the disease.
[Mh] Termos MeSH primário: Adaptação Biológica/genética
Exposição Ambiental
Estresse Fisiológico/genética
[Mh] Termos MeSH secundário: Exposição Ambiental/efeitos adversos
Exposição Ambiental/prevenção & controle
Saúde Ambiental/tendências
Genética Humana/métodos
Genética Humana/tendências
Seres Humanos
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180213
[St] Status:MEDLINE


  2 / 206517 MEDLINE  
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[PMID]:29421442
[Au] Autor:Wu S; Mao L; Li Y; Yin Y; Yuan W; Chen Y; Ren W; Lu X; Li Y; Chen L; Chen B; Xu W; Tian T; Lu Y; Jiang L; Zhuang X; Chu M; Wu J
[Ad] Endereço:Jiangsu Provincial Key Laboratory of Geriatrics, Department of Geriatrics, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.
[Ti] Título:RAGE may act as a tumour suppressor to regulate lung cancer development.
[So] Source:Gene;651:86-93, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Although the correlation of the RAGE rs2070600 polymorphism and cancer risk has been confirmed, detailed studies with functional and experimental evaluations are lacking. In this study, we first aimed to examine whether this polymorphism is associated with cancer risk based on the latest published data, and consistent with previous meta-analyses, a significant association between the rs2070600 polymorphism and cancer risk was observed (A versus G: OR = 1.25; 95% CI = 1.12-1.40). In additional stratified analyses based on cancer type, rs2070600 was significantly associated with an increased risk of lung cancer (A versus G: OR = 1.20; 95% CI = 1.09-1.33). Moreover, TCGA database showed that the expression level of RAGE was significantly lower in lung cancer tumour tissues than in adjacent non-tumour tissues, which was validated in the GEO database. Additionally, eQTL analysis indicated that the rs2070600 polymorphism may modify the expression level of RAGE in lung squamous cell carcinoma tissues (P = 0.09). Finally, we performed functional experiments in lung cancer cells and preliminarily demonstrated that RAGE may act as a tumour suppressor in lung cancer development. These findings provide evidence that the variant A allele of rs2070600 may decrease the expression of the tumour suppressor gene RAGE, thereby increasing lung cancer risk.
[Mh] Termos MeSH primário: Genes Supressores de Tumor
Neoplasias Pulmonares/genética
Polimorfismo de Nucleotídeo Único
Receptor para Produtos Finais de Glicação Avançada/genética
[Mh] Termos MeSH secundário: Linhagem Celular
Linhagem Celular Tumoral
Expressão Gênica
Predisposição Genética para Doença
Seres Humanos
Neoplasias Pulmonares/patologia
Fenótipo
Locos de Características Quantitativas
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (Receptor for Advanced Glycation End Products)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180209
[St] Status:MEDLINE


  3 / 206517 MEDLINE  
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[PMID]:29329325
[Au] Autor:Dell'Isola A; Steultjens M
[Ad] Endereço:Institute of Applied Health Research/ School of Health and Life Sciences, Glasgow Caledonian University, Glasgow, Scotland.
[Ti] Título:Classification of patients with knee osteoarthritis in clinical phenotypes: Data from the osteoarthritis initiative.
[So] Source:PLoS One;13(1):e0191045, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: The existence of phenotypes has been hypothesized to explain the large heterogeneity characterizing the knee osteoarthritis. In a previous systematic review of the literature, six main phenotypes were identified: Minimal Joint Disease (MJD), Malaligned Biomechanical (MB), Chronic Pain (CP), Inflammatory (I), Metabolic Syndrome (MS) and Bone and Cartilage Metabolism (BCM). The purpose of this study was to classify a sample of individuals with knee osteoarthritis (KOA) into pre-defined groups characterized by specific variables that can be linked to different disease mechanisms, and compare these phenotypes for demographic and health outcomes. METHODS: 599 patients were selected from the OAI database FNIH at 24 months' time to conduct the study. For each phenotype, cut offs of key variables were identified matching the results from previous studies in the field and the data available for the sample. The selection process consisted of 3 steps. At the end of each step, the subjects classified were excluded from the further classification stages. Patients meeting the criteria for more than one phenotype were classified separately into a 'complex KOA' group. RESULTS: Phenotype allocation (including complex KOA) was successful for 84% of cases with an overlap of 20%. Disease duration was shorter in the MJD while the CP phenotype included a larger number of Women (81%). A significant effect of phenotypes on WOMAC pain (F = 16.736 p <0.001) and WOMAC physical function (F = 14.676, p < 0.001) was identified after controlling for disease duration. CONCLUSION: This study signifies the feasibility of a classification of KOA subjects in distinct phenotypes based on subgroup-specific characteristics.
[Mh] Termos MeSH primário: Osteoartrite do Joelho/classificação
Fenótipo
[Mh] Termos MeSH secundário: Idoso
Feminino
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180113
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191045


  4 / 206517 MEDLINE  
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[PMID]:29287889
[Au] Autor:Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
[Ad] Endereço:Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy.
[Ti] Título:A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
[So] Source:Int J Pediatr Otorhinolaryngol;104:88-93, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.
[Mh] Termos MeSH primário: Surdez/genética
Perda Auditiva Neurossensorial/genética
Fator de Transcrição PAX3/genética
Transativadores/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Adulto
Audiometria
Criança
Família
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Mutação
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EYA4 protein, human); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (Trans-Activators)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


  5 / 206517 MEDLINE  
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[PMID]:29237449
[Au] Autor:Singh A; Roy S
[Ad] Endereço:Genetics and Molecular Biology Division, CSIR-National Botanical Research Institute, Lucknow, Uttar Pradesh, 226001, India.
[Ti] Título:High altitude population of Arabidopsis thaliana is more plastic and adaptive under common garden than controlled condition.
[So] Source:BMC Ecol;17(1):39, 2017 Dec 13.
[Is] ISSN:1472-6785
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Population differentiation and their adaptation to a particular environment depend on their ability to respond to a new environment. This, in turn is governed to an extent, by the degree of phenotypic plasticity exhibited by the populations. The populations of same species inhabiting different climatic conditions may differ in their phenotypic plasticity. Himalayan populations of Arabidopsis thaliana originating from a steep altitude are exposed to different climatic conditions ranging from sub-tropical to temperate. Thus they might have experienced different selection pressures during evolution and may respond differently under common environmental condition. RESULTS: Phenotypic plasticity and differentiation of natural populations of A. thaliana grown under common garden and controlled conditions were determined. A total of seventeen morphological traits, their plasticity, association between traits and environment were performed using 45 accessions from three populations. Plants from different altitudes differed in phenotypes, their selection and fitness under two conditions. Under both the conditions lower altitude population was characterized by higher leaf count and larger silique than higher and middle altitude population. Flowering time of high altitude population increased while that of low and medium altitude decreased under controlled condition compared to open field. An increase in seed weight and germination was observed for all the population under open field than controlled. Rosette area was under divergent selection in both the condition. The heritability of lower altitude population was the highest under both the conditions, where as it was the least for higher altitude population further indicating that the high altitude populations are more responsive towards phenotypic changes under new environmental conditions. Ninety-nine percent of variability in traits and their plasticity co-varied with the altitude of their origin. The population of high altitude was more plastic and differentiated as compared to the lower altitude one. CONCLUSIONS: Arabidopsis thaliana population native to different altitudes of the west Himalaya responds differently when grown under common environments. The success of high altitude population is more in common garden than the controlled conditions. The significant variability in phenotype and its association with altitude of origin predicts for non-random genetic differentiation among the populations.
[Mh] Termos MeSH primário: Aclimatação
Altitude
Arabidopsis/fisiologia
Meio Ambiente
Fenótipo
[Mh] Termos MeSH secundário: Arabidopsis/genética
Arabidopsis/crescimento & desenvolvimento
Índia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE
[do] DOI:10.1186/s12898-017-0149-5


  6 / 206517 MEDLINE  
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[PMID]:29233135
[Au] Autor:Helsen K; Acharya KP; Brunet J; Cousins SAO; Decocq G; Hermy M; Kolb A; Lemke IH; Lenoir J; Plue J; Verheyen K; De Frenne P; Graae BJ
[Ad] Endereço:Department of Biology, Norwegian University of Science and Technology, Høgskoleringen 5, 7034, Trondheim, Norway. kenny.helsen@ntnu.no.
[Ti] Título:Biotic and abiotic drivers of intraspecific trait variation within plant populations of three herbaceous plant species along a latitudinal gradient.
[So] Source:BMC Ecol;17(1):38, 2017 Dec 12.
[Is] ISSN:1472-6785
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The importance of intraspecific trait variation (ITV) is increasingly acknowledged among plant ecologists. However, our understanding of what drives ITV between individual plants (ITV ) at the population level is still limited. Contrasting theoretical hypotheses state that ITV can be either suppressed (stress-reduced plasticity hypothesis) or enhanced (stress-induced variability hypothesis) under high abiotic stress. Similarly, other hypotheses predict either suppressed (niche packing hypothesis) or enhanced ITV (individual variation hypothesis) under high niche packing in species rich communities. In this study we assess the relative effects of both abiotic and biotic niche effects on ITV of four functional traits (leaf area, specific leaf area, plant height and seed mass), for three herbaceous plant species across a 2300 km long gradient in Europe. The study species were the slow colonizing Anemone nemorosa, a species with intermediate colonization rates, Milium effusum, and the fast colonizing, non-native Impatiens glandulifera. RESULTS: Climatic stress consistently increased ITV across species and traits. Soil nutrient stress, on the other hand, reduced ITV for A. nemorosa and I. glandulifera, but had a reversed effect for M. effusum. We furthermore observed a reversed effect of high niche packing on ITV for the fast colonizing non-native I. glandulifera (increased ITV ), as compared to the slow colonizing native A. nemorosa and M. effusum (reduced ITV ). Additionally, ITV in the fast colonizing species tended to be highest for the vegetative traits plant height and leaf area, but lowest for the measured generative trait seed mass. CONCLUSIONS: This study shows that stress can both reduce and increase ITV , seemingly supporting both the stress-reduced plasticity and stress-induced variability hypotheses. Similarly, niche packing effects on ITV supported both the niche packing hypothesis and the individual variation hypothesis. These results clearly illustrates the importance of simultaneously evaluating both abiotic and biotic factors on ITV . This study adds to the growing realization that within-population trait variation should not be ignored and can provide valuable ecological insights.
[Mh] Termos MeSH primário: Anemone/fisiologia
Impatiens/fisiologia
Fenótipo
Dispersão Vegetal
Poaceae/fisiologia
[Mh] Termos MeSH secundário: Anemone/genética
Anemone/crescimento & desenvolvimento
Meio Ambiente
Europa (Continente)
Impatiens/genética
Impatiens/crescimento & desenvolvimento
Espécies Introduzidas
Poaceae/genética
Poaceae/crescimento & desenvolvimento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE
[do] DOI:10.1186/s12898-017-0151-y


  7 / 206517 MEDLINE  
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[PMID]:28450389
[Au] Autor:Triantafyllou E; Pop OT; Possamai LA; Wilhelm A; Liaskou E; Singanayagam A; Bernsmeier C; Khamri W; Petts G; Dargue R; Davies SP; Tickle J; Yuksel M; Patel VC; Abeles RD; Stamataki Z; Curbishley SM; Ma Y; Wilson ID; Coen M; Woollard KJ; Quaglia A; Wendon J; Thursz MR; Adams DH; Weston CJ; Antoniades CG
[Ad] Endereço:Institute of Liver Studies, King's College Hospital, King's College London, London, UK.
[Ti] Título:MerTK expressing hepatic macrophages promote the resolution of inflammation in acute liver failure.
[So] Source:Gut;67(2):333-347, 2018 02.
[Is] ISSN:1468-3288
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Acute liver failure (ALF) is characterised by overwhelming hepatocyte death and liver inflammation with massive infiltration of myeloid cells in necrotic areas. The mechanisms underlying resolution of acute hepatic inflammation are largely unknown. Here, we aimed to investigate the impact of Mer tyrosine kinase (MerTK) during ALF and also examine how the microenvironmental mediator, secretory leucocyte protease inhibitor (SLPI), governs this response. DESIGN: Flow cytometry, immunohistochemistry, confocal imaging and gene expression analyses determined the phenotype, functional/transcriptomic profile and tissue topography of MerTK+ monocytes/macrophages in ALF, healthy and disease controls. The temporal evolution of macrophage MerTK expression and its impact on resolution was examined in APAP-induced acute liver injury using wild-type (WT) and Mer-deficient (Mer ) mice. SLPI effects on hepatic myeloid cells were determined in vitro and in vivo using APAP-treated WT mice. RESULTS: We demonstrate a significant expansion of resolution-like MerTK+HLA-DR cells in circulatory and tissue compartments of patients with ALF. Compared with WT mice which show an increase of MerTK+MHCII macrophages during the resolution phase in ALF, APAP-treated Mer mice exhibit persistent liver injury and inflammation, characterised by a decreased proportion of resident Kupffer cells and increased number of neutrophils. Both in vitro and in APAP-treated mice, SLPI reprogrammes myeloid cells towards resolution responses through induction of a MerTK+HLA-DR phenotype which promotes neutrophil apoptosis and their subsequent clearance. CONCLUSIONS: We identify a hepatoprotective, MerTK+, macrophage phenotype that evolves during the resolution phase following ALF and represents a novel immunotherapeutic target to promote resolution responses following acute liver injury.
[Mh] Termos MeSH primário: Falência Hepática Aguda/imunologia
Falência Hepática Aguda/metabolismo
Macrófagos/metabolismo
Inibidor Secretado de Peptidases Leucocitárias/farmacologia
c-Mer Tirosina Quinase/metabolismo
[Mh] Termos MeSH secundário: Acetaminofen
Adulto
Idoso
Animais
Estudos de Casos e Controles
Feminino
Expressão Gênica
Genes MHC Classe II
Antígenos HLA-DR/metabolismo
Seres Humanos
Macrófagos do Fígado/imunologia
Macrófagos do Fígado/metabolismo
Falência Hepática Aguda/induzido quimicamente
Falência Hepática Aguda/patologia
Macrófagos/imunologia
Masculino
Camundongos
Meia-Idade
Monócitos/imunologia
Monócitos/metabolismo
Neutrófilos/fisiologia
Fenótipo
Inibidor Secretado de Peptidases Leucocitárias/metabolismo
Inibidor Secretado de Peptidases Leucocitárias/uso terapêutico
Transcriptoma
c-Mer Tirosina Quinase/deficiência
c-Mer Tirosina Quinase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (HLA-DR Antigens); 0 (Secretory Leukocyte Peptidase Inhibitor); 362O9ITL9D (Acetaminophen); EC 2.7.10.1 (MERTK protein, human); EC 2.7.10.1 (Mertk protein, mouse); EC 2.7.10.1 (c-Mer Tyrosine Kinase)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1136/gutjnl-2016-313615


  8 / 206517 MEDLINE  
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[PMID]:29268280
[Au] Autor:Ribeiro L; Pappuru R; Lobo C; Alves D; Cunha-Vaz J
[Ad] Endereço:AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal.
[Ti] Título:Different Phenotypes of Mild Nonproliferative Diabetic Retinopathy with Different Risks for Development of Macular Edema (C-TRACER Study).
[So] Source:Ophthalmic Res;59(2):59-67, 2018.
[Is] ISSN:1423-0259
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To evaluate diabetic retinopathy (DR) progression in patients with diabetes mellitus type 2 in 2 populations of different ethnicity. METHODS: A prospective observational study was designed to follow eyes/patients with mild nonproliferative DR, for 2 years or until the development of central-involved macular edema (CIME), in 2 centers from different regions of the world. A total of 205 eyes/patients fulfilled the inclusion/exclusion criteria and were included in this study. Ophthalmological examinations, fundus photography with RetmarkerDR analysis, and optical coherence tomography were performed at baseline and at 6, 12 and 24 months. RESULTS: Of the 158 eyes/patients that completed this study, 24 eyes developed CIME and 134 eyes were present at the last study visit. Eighty-eight eyes (56.4%) were classified as phenotype A, 49 (31.4%) as phenotype B, and 19 (12.2%) as phenotype C. Phenotype A is associated with a very low risk for development of CIME in comparison with phenotypes B and C. The OR for development of CIME was 19.0 for phenotype B and 25.1 for phenotype C. CONCLUSION: Eyes in the initial stages of DR show different phenotypes with different risks of progression to ME. The phenotypes associated with increased risks of progression show different distributions in patients of different ethnicities.
[Mh] Termos MeSH primário: Retinopatia Diabética/patologia
Edema Macular/patologia
[Mh] Termos MeSH secundário: Idoso
Retinopatia Diabética/complicações
Progressão da Doença
Feminino
Seres Humanos
Edema Macular/etiologia
Masculino
Meia-Idade
Fenótipo
Estudos Prospectivos
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171222
[St] Status:MEDLINE
[do] DOI:10.1159/000484666


  9 / 206517 MEDLINE  
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[PMID]:28470797
[Au] Autor:O'Kane GM; Ryan É; McVeigh TP; Creavin B; Hyland JM; O'Donoghue DP; Keegan D; Geraghty R; Flannery D; Nolan C; Donovan E; Mehigan BJ; McCormick P; Muldoon C; Farrell M; Shields C; Mulligan N; Kennedy MJ; Green AJ; Winter DC; MacMathuna P; Sheahan K; Gallagher DJ
[Ad] Endereço:St. James's Hospital, Dublin 8, Ireland.
[Ti] Título:Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers.
[So] Source:Cancer Med;6(6):1465-1472, 2017 Jun.
[Is] ISSN:2045-7634
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Reflex immunohistochemistry (rIHC) for mismatch repair (MMR) protein expression can be used as a screening tool to detect Lynch Syndrome (LS). Increasingly the mismatch repair-deficient (dMMR) phenotype has therapeutic implications. We investigated the pattern and consequence of testing for dMMR in three Irish Cancer Centres (CCs). CRC databases were analyzed from January 2005-December 2013. CC1 performs IHC upon physician request, CC2 implemented rIHC in November 2008, and CC3 has been performing rIHC since 2004. The number of eligible patients referred to clinical genetic services (CGS), and the number of LS patients per center was determined. 3906 patients were included over a 9-year period. dMMR CRCs were found in 32/153 (21%) of patients at CC1 and 55/536 (10%) at CC2, accounting for 3% and 5% of the CRC population, respectively. At CC3, 182/1737 patients (10%) had dMMR CRCs (P < 0.001). Additional testing for the BRAF V600E mutation, was performed in 49 patients at CC3 prior to CGS referral, of which 29 were positive and considered sporadic CRC. Referrals to CGS were made in 66%, 33%, and 30% of eligible patients at CC1, CC2, and CC3, respectively. LS accounted for CRC in eight patients (0.8%) at CC1, eight patients (0.7%) at CC2, and 20 patients (1.2%) at CC3. Cascade testing of patients with dMMR CRC was not completed in 56%. Universal screening increases the detection of dMMR tumors and LS kindreds. Successful implementation of this approach requires adequate resources for appropriate downstream management of these patients.
[Mh] Termos MeSH primário: Neoplasias Colorretais/genética
Reparo de Erro de Pareamento de DNA
[Mh] Termos MeSH secundário: Centros Médicos Acadêmicos
Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Seres Humanos
Imuno-Histoquímica
Meia-Idade
Mutação
Fenótipo
Proteínas Proto-Oncogênicas B-raf/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
EC 2.7.11.1 (BRAF protein, human); EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1002/cam4.1025


  10 / 206517 MEDLINE  
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[PMID]:28463420
[Au] Autor:Chang YC; Cole TB; Costa LG
[Ad] Endereço:Department of Environmental and Occupational Health Sciences, University of Washington, Seattle, Washington.
[Ti] Título:Behavioral Phenotyping for Autism Spectrum Disorders in Mice.
[So] Source:Curr Protoc Toxicol;72:11.22.1-11.22.21, 2017 May 02.
[Is] ISSN:1934-9262
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autism spectrum disorder (ASD) represents a heterogeneous group of disorders characterized by alterations in three behavioral symptom domains: Social interactions, verbal and nonverbal communication, and repetitive behaviors. Increasing prevalence of ASD in recent years suggests that exposure to environmental toxicants may be critical in modulating etiology of this disease. As clinical diagnosis of autism still relies on behavioral evaluation, it is important to be able to assess similar behavioral traits in animal models, to provide biological plausibility of associations between environmental exposures and ASD. Rodents naturally exhibit a large number of behaviors that can be linked to similar behaviors in human. In this unit, behavioral tests are described that are relevant to the domains affected in ASD. For the repetitive domain, the T-maze spontaneous alternation test and marble burying test are described. For the communication domain, neonatal ultrasonic vocalization and olfactory habituation test toward social and non-social odor are described. Finally, for the sociability domain, the three-chambered social preference test and the reciprocal interaction test are presented. © 2017 by John Wiley & Sons, Inc.
[Mh] Termos MeSH primário: Transtorno do Espectro Autista/psicologia
Comportamento Animal
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Modelos Animais de Doenças
Habituação Psicofisiológica
Camundongos
Transtorno Obsessivo-Compulsivo/psicologia
Odorantes
Fenótipo
Olfato
Comportamento Social
Urina/química
Vocalização Animal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE
[do] DOI:10.1002/cptx.19



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