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[PMID]:27771785
[Au] Autor:Ke Y; Ng T; Yeo HL; Shwe M; Gan YX; Chan A
[Ad] Endereço:Department of Pharmacy, National University of Singapore, Blk S4A level 3, 18 Science Drive 4, Singapore, 117543, Singapore.
[Ti] Título:Psychometric properties and measurement equivalence of the English and Chinese versions of the Beck Anxiety Inventory in patients with breast cancer.
[So] Source:Support Care Cancer;25(2):633-643, 2017 02.
[Is] ISSN:1433-7339
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: There is a lack of psychometric data for both the English and Chinese versions of Beck Anxiety Inventory (BAI) to support its usage among breast cancer patients. This study examined the psychometric properties and measurement equivalence of the English and Chinese versions of BAI among breast cancer patients in Singapore. METHODS: Patients were recruited from two major cancer centers in Singapore. The criterion and construct validity of BAI was assessed by its correlation strength with (1) the emotional functioning subdomain of EORTC QLQ-C30 and (2) constructs related to anxiety, namely fatigue, dyspnea, and quality of life. The known-group validity was assessed according to the patients' breast cancer stage, religious beliefs, and emotional functioning levels. The internal consistency of the BAI domains was evaluated using Cronbach's alpha coefficient. Regression analysis was performed to compare the BAI total and domain scores between the two language versions. RESULTS: Data from 244 patients (144 English-speaking and 100 Chinese-speaking) were analyzed. For both language versions, the BAI total scores correlated moderately with the EORTC QLQ-C30 emotional functioning subdomain (r = -0.655 and -0.601). Correlations with fatigue, quality of life, and dyspnea were moderate (|r| = 0.456-0.606). Patients with poorer emotional functioning reported higher anxiety levels, establishing known-group validity. All BAI domains demonstrated satisfactory internal consistencies (α = 0.74-0.87), except for the panic domain (α = 0.57-0.61). Possible measurement equivalence between the language versions was established. CONCLUSION: Both English and Chinese versions of BAI are valid, reliable, and possibly equivalent for future use.
[Mh] Termos MeSH primário: Ansiedade/psicologia
Grupo com Ancestrais do Continente Asiático/psicologia
Neoplasias da Mama/psicologia
Psicometria/métodos
Qualidade de Vida/psicologia
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Linguagem
Meia-Idade
Estudos Prospectivos
Reprodutibilidade dos Testes
Inquéritos e Questionários
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180310
[Lr] Data última revisão:
180310
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.1007/s00520-016-3452-3


  2 / 51219 MEDLINE  
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[PMID]:29505523
[Au] Autor:Kang X; Zeng Y; Liang J; Li J; Ren D; Chai L; Sun Z; Yu S; Wu X; Han W; Wang W
[Ad] Endereço:Department of Dermatology.
[Ti] Título:Aberrations and clinical significance of BRAF in malignant melanoma: A series of 60 cases in Chinese Uyghur.
[So] Source:Medicine (Baltimore);97(1):e9509, 2018 Jan.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Malignant melanoma (MM) is a highly malignant melanocytic tumor, it occurs mostly in the skin, the mucous membrane close to the skin, but also in the tunicae rhagoides and the pia mater. The Uyghur is the largest ethnic group living in the Xinjiang Uyghur Autonomous Region of China, accounting for 46% of the total population of 20 million. Large-scale studies on MMs in Asian countries are limited. This study aimed to investigate BRAF mRNA expression and mutations in Chinese Uyghur patients with MMs and to identify the clinical features associated with these parameters.Formalin-fixed, paraffin wax-embedded tumor sections from 60 MMs were analyzed for BRAF expression using reverse transcription polymerase chain reaction (RT-PCR). Exons 11 and 15 of BRAF were analyzed for the presence of mutations using PCR and DNA sequencing. Sixty MMs were followed by mobile phone for survival analysis.BRAF mRNA expression was higher in MMs than in pigmented moles and normal skin tissues. Fourteen of 60 MMs had BRAF mutations. The frequency of BRAF mutations was significantly higher in patients younger than 60 years (10/28, 4/32, P = .02). A significant difference was observed in the frequency of BRAF mutations among specimens of mucosal, acral, chronic sun-induced damage (CSD), and non-CSD MMs (2/10, 3/19, 8/25, 1/6, P = .002). No significant association was found among BRAF mutations, sex, ulceration, or lymph node metastasis. MMs lymph node metastasis (hazard ratio 2.54 [95% confidence interval 1.062 - 6.066], P = .01) affected survival.This study indicated that BRAF mutations and expression might serve as independent adverse prognostic factors in melanoma.
[Mh] Termos MeSH primário: Melanoma/genética
Proteínas Proto-Oncogênicas B-raf/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Idoso
Grupo com Ancestrais do Continente Asiático/genética
China/epidemiologia
Feminino
Seres Humanos
Masculino
Melanoma/metabolismo
Melanoma/mortalidade
Meia-Idade
Mutação
Proteínas Proto-Oncogênicas B-raf/metabolismo
Neoplasias Cutâneas/metabolismo
Neoplasias Cutâneas/mortalidade
Análise de Sobrevida
[Pt] Tipo de publicação:JOURNAL ARTICLE
[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:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180306
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009509


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[PMID]:29505510
[Au] Autor:Chen XR; Dong JN; Zhang F; Yao TL
[Ad] Endereço:Department of Ultrasound, The Second Affiliated Hospital of Mudanjiang Medical University.
[Ti] Título:Efficacy and safety of image-guidance radiotherapy by helical tomotherapy in patients with lung cancer.
[So] Source:Medicine (Baltimore);97(1):e9243, 2018 Jan.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This study aimed to explore the efficacy and toxicity of image-guided stereotactic body radiotherapy (IGSBR) by helical tomotherapy in patients with lung cancer among Chinese Han population.A total of 21 patients with stage I lung cancer were included. They received a total of 60 Gy factions IGSBR. The outcomes included complete response (CR), partial response (PR), stable disease (SD), progress disease (PD), overall response rate (ORR), and overall survival (OS). In addition, toxicities were also recorded in this study.Three-year CR, PR, SD, PD, ORR, and OS were 47.6%, 38.1%, 9.5%, 4.8%, 85.7%, and 48.0 months, respectively. Additionally, mild toxicities were found in this study.This study demonstrated that IGSBR is efficacious for patients with stage I lung cancer with mild toxicities among Chinese Han population.
[Mh] Termos MeSH primário: Carcinoma/radioterapia
Neoplasias Pulmonares/radioterapia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Grupo com Ancestrais do Continente Asiático
Carcinoma Pulmonar de Células não Pequenas/radioterapia
Feminino
Seres Humanos
Masculino
Meia-Idade
Radioterapia Guiada por Imagem
Radioterapia de Intensidade Modulada
Estudos Retrospectivos
[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:AIM; IM
[Da] Data de entrada para processamento:180306
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009243


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[PMID]:29410289
[Au] Autor:Xu Y; Ren J; Ye H
[Ad] Endereço:Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Beijing Institute for Brain Disorders, Center of Schizophrenia, Capital Medical University, Beijing 100069, China. Electronic address: xuyl@ccmu.edu.cn.
[Ti] Título:Association between variations in the disrupted in schizophrenia 1 gene and schizophrenia: A meta-analysis.
[So] Source:Gene;651:94-99, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Schizophrenia is a severe psychiatric disorder. Genetic and functional studies have strongly implicated the disrupted in schizophrenia 1 gene (DISC1) as a candidate susceptibility gene for schizophrenia. Moreover, recent association studies have indicated that several DISC1 single nucleotide polymorphisms (SNPs) are associated with schizophrenia. However, the association is hardly replicate in different ethnic group. Here, we performed a meta-analysis of the association between DISC1 SNPs and schizophrenia in which the samples were divided into subgroups according to ethnicity. Both rs3738401 and rs821616 showed not significantly association with schizophrenia in the Caucasian, Asian, Japanese or Han Chinese populations.
[Mh] Termos MeSH primário: Proteínas do Tecido Nervoso/genética
Polimorfismo de Nucleotídeo Único
Esquizofrenia/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Grupo com Ancestrais do Continente Europeu/genética
Estudos de Associação Genética
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (DISC1 protein, human); 0 (Nerve Tissue Proteins)
[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:180208
[St] Status:MEDLINE


  5 / 51219 MEDLINE  
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[PMID]:29408620
[Au] Autor:Qiu S; Li Y; Li Y; Zhong W; Shi M; Zhao Q; Zhang K; Wang Y; Lu M; Zhu X; Jiang H; Yu Y; Cheng Y; Liu Y
[Ad] Endereço:Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, Jilin, China.
[Ti] Título:Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder.
[So] Source:Gene;651:100-105, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD. We investigated the association between polymorphisms in SHANK3 and ASD in the Northeast Han Chinese population. A total of 470 subjects (229 cases and 241 controls) were enrolled in our case-control study. Five single nucleotide polymorphisms (SNPs) (rs756638, rs4824116, rs76268556, rs9616915, and rs75767639) in SHANK3 were selected and genotyped. Our study did not identify a significant association of SHANK3 SNPs with ASD in the Northeast Han Chinese population. Future studies need to test more SHANK3 SNPs in large sample to demonstrate the association between SNPs in SHANK3 and ASD.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Transtorno do Espectro Autista/genética
Proteínas do Tecido Nervoso/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Pré-Escolar
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nerve Tissue Proteins); 0 (SHANK3 protein, human)
[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:180207
[St] Status:MEDLINE


  6 / 51219 MEDLINE  
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[PMID]:29408531
[Au] Autor:Zhang D; Yang M; Zhou D; Li Z; Cai L; Bao Y; Li H; Shan Z; Liu J; Lv D; Liu Y; Xu C; Ling J; Xu Y; Zhang S; Huang Q; Shi Y; Zhu Y; Lai M
[Ad] Endereço:Department of Pathology, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310058, PR China; Key Laboratory of Disease Proteomics of Zhejiang Province, Hangzhou, Zhejiang 310058, PR China.
[Ti] Título:The polymorphism rs671 at ALDH2 associated with serum uric acid levels in Chinese Han males: A genome-wide association study.
[So] Source:Gene;651:62-69, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Serum uric acid (SUA) levels are highly heritable and an increased SUA level is one of important risk factors for gout, diabetes, metabolic syndrome, and cardiovascular diseases. The genetic variants underlying SUA remains largely unexplored. The aim was to explore new genetic variants underlying SUA in Chinese Han. We performed a genome-wide association study of SUA levels in Han Chinese. The discovery set contained 1634 samples and subsequent replication was comprised of 1649 females and 1169 males. 2620 subjects were recruited in the detailed analysis of rs671, alcohol drinking and SUA. We found a genome-wide significant association between SUA level and the SNP rs671 at ALDH2 (P = 1.2 × 10 ) in the merged data. In addition, we also replicated the signal from rs3733590 at SLC2A9 (P = 1.0 × 10 ). In males, about 0.21% to 1.95% of the total variance for SUA can be explained by rs671 using linear regression models in four independent cohorts. Of those, 56.75% to 93.51% might be explained by altering alcohol consumption due to rs671. No statistical association of rs671 and SUA was observed in females (P = 0.409). Furthermore, we observed a causal relationship between alcohol consumption and SUA in males using rs671 as an instrumental variable (P = 5.1 × 10 ). We replicated the previous findings in SLC2A9. Our evidence supported that rs671 was associated with SUA by affecting alcohol consumption in males. This finding strongly suggests a role for alcohol consumption in the development of hyperuricaemia and uric acid related traits.
[Mh] Termos MeSH primário: Aldeído-Desidrogenase Mitocondrial/genética
Grupo com Ancestrais do Continente Asiático/genética
Mutação de Sentido Incorreto
Ácido Úrico/sangue
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos de Coortes
Feminino
Estudo de Associação Genômica Ampla
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Fatores Sexuais
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
268B43MJ25 (Uric Acid); EC 1.2.1.3 (ALDH2 protein, human); EC 1.2.1.3 (Aldehyde Dehydrogenase, Mitochondrial)
[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:180207
[St] Status:MEDLINE


  7 / 51219 MEDLINE  
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[PMID]:29391274
[Au] Autor:Chen YL; Li TJ; Hao Y; Wu BG; Li H; Geng N; Sun ZQ; Zheng LQ; Sun YX
[Ad] Endereço:Department of Cardiology, The First Hospital of China Medical University, Shenyang, Liaoning, PR China.
[Ti] Título:Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study.
[So] Source:Gene;651:79-85, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Corins are membrane-bound protease that regulates blood pressure by activating the natriuretic peptides. These pro-atrial natriuretic peptide convertases are essential for sodium homeostasis and normal blood pressure. CORIN variants have been identified in humans and other animals, but no studies of CORIN polymorphisms have been conducted in northeastern China. This study aims to investigate the association of 2 single nucleotide polymorphisms (SNPs) in CORIN (rs2271037 and rs3749585) with hypertension, as well as their potential interactions with some risk factors of hypertension in a Han population of northeastern China. A case-control study, including 402 patients with hypertension and 406 participants with normal blood pressure, was conducted in Liaoning province. SNP genotyping was carried out by high resolution melting (HRM) after polymerase chain reaction amplifications. Since rs3749585 is located in 3' untranslated region (UTR) of CORIN, in silico analysis was used to predict target micro RNAs on TargetScan, miRanda, and DIANA-microT. As a result, mutant T allele in rs2271037 (odds ratio [OR], 1.693; 95% confidence [CI], 1.528-1.877; p < 0.001) and C allele in rs3749585 (OR, 1.114; 95% CI 1.011-1.227; p = 0.029) increased the risk of hypertension, comparing with wild G allele and T allele, respectively. Patients with genotype TT (OR, 10.209; 95% CI, 6.414-16.250; p < 0.001) and GT (OR, 1.730; 95% CI, 1.226-2.443; p = 0.002) have higher risk of hypertension than those with genotype GG. SNP rs2271037 was significantly associated with susceptibility to hypertension in all genetic models (dominant model: OR, 2.879; 95% CI, 2.080-3.986; p < 0.001; recessive model: OR, 7.159; 95% CI, 4.779-10.724; p < 0.001; additive model: OR, 1.535; 95% CI, 1.163-2.027; p = 0.002). SNP rs3749585 was significantly correlated with hypertension susceptibility only in dominant model (OR, 1.533; 95% CI, 1.073-2.189; p = 0.019), but not in recessive model (OR, 1.220; 95% CI, 0.906-1.644; p = 0.191) or additive model (OR, 0.915; 95% CI, 0.694-1.205; p = 0.527). After adjusting for age, gender, body mass index (BMI), smoking, low-density lipoprotein cholesterol, and serum sodium level in logistic models, the same statistical results were obtained. Interaction study showed the association between CORIN polymorphisms and hypertension could be changed by overweight (BMI ≥ 25 kg/m ). In silico analyses implicated hsa-miR-495 as a target miRNA that potentially interacts with the 3' UTR of CORIN. In conclusion, polymorphisms of rs2271037 and rs3749585 in CORIN were significantly associated with hypertension in a Han population of northeastern China. The mutant-type T allele of rs2271037 and C allele of rs3749585 might increase the susceptibility to hypertension in this population.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Hipertensão/genética
Polimorfismo de Nucleotídeo Único
Serina Endopeptidases/genética
[Mh] Termos MeSH secundário: Alelos
Estudos de Casos e Controles
Feminino
Interação Gene-Ambiente
Estudos de Associação Genética
Predisposição Genética para Doença
Genótipo
Seres Humanos
Masculino
MicroRNAs/metabolismo
Meia-Idade
RNA Mensageiro/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs); 0 (RNA, Messenger); EC 3.4.21.- (CORIN protein, human); EC 3.4.21.- (Serine Endopeptidases)
[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:180203
[St] Status:MEDLINE


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[PMID]:29374520
[Au] Autor:Chen J; Jiang Y; Zhou J; Liu S; Qin N; Du J; Jin G; Hu Z; Ma H; Shen H; Dai J
[Ad] Endereço:Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, China; Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Medicine, Nanjing Medical University, Nanjing, China.
[Ti] Título:Evaluation of CpG-SNPs in miRNA promoters and risk of breast cancer.
[So] Source:Gene;651:1-8, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:CpG-SNPs in gene promoter regions are proposed to be associated with multiple diseases. To date, few studies have focused on the associations between CpG-SNPs in miRNA promoters and the risk of breast cancer. In this study, 138 miRNAs differentially expressed between breast cancer and non-cancer tissues (fold change >2, P < 0.05) were identified using The Cancer Genome Atlas (TCGA) Research database. In total, 13 SNPs were selected in the promoters of the miRNAs and were evaluated in a case-control study of Chinese women including 1486 cases and 1519 controls. After multivariate logistic regression analysis, we found that three CpG-SNPs: rs1190983, rs155247, and rs62382272, were significantly associated with breast-cancer susceptibility in the population (Additive model: rs1190983: adjusted OR = 0.88, 95% CI: 0.79-0.99, P = 0.034; rs155247: adjusted OR = 0.83, 95% CI: 0.74-0.93, P = 0.002; rs62382272: adjusted OR = 1.24, 95% CI: 1.04-1.47, P = 0.016). eQTL analysis showed that these three SNPs were correlated with the expression of the related miRNAs in TCGA breast cancer tissues (P = 0.006,0.009,0.001 for rs1190983, rs155247, and rs62382272). Furthermore, rs1190983 was found to be associated with CpG site (cg20488673) methylation (meQTL) (P = 0.004), which was in turn correlated with miR-342 expression (P = 0.016). These findings indicated that the three CpG-SNPs in the promoters of miRNAs were likely to possess important biological functions to breast cancer in the Han Chinese population.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Ilhas de CpG
MicroRNAs/genética
Polimorfismo de Nucleotídeo Único
Regiões Promotoras Genéticas
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Estudos de Casos e Controles
Feminino
Predisposição Genética para Doença
Seres Humanos
Meia-Idade
Locos de Características Quantitativas
Medição de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs)
[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:180129
[St] Status:MEDLINE


  9 / 51219 MEDLINE  
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[PMID]:29330562
[Au] Autor:Zhao L; Zhu H; Han B; Wang L; Sun Y; Lu X; Huang C; Tan B; Chen C; Qin L
[Ad] Endereço:Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
[Ti] Título:Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy.
[So] Source:Ann Hematol;97(4):685-695, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Studies have suggested that IL-23/STAT3 and IL-12/STAT4 signaling pathways associate with aplastic anemia (AA) occurrence. Polymorphisms in pathway-related genes may contribute to AA risk. In the current study, we investigated the association between polymorphisms in genes of IL23R, STAT3, IL12B, and STAT4 and occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. In the current 164 AA cases and 211 controls study, we found T allele and TT genotype of rs7574865 were more frequent in the cases than that in the controls. In the additive model, individual carrying rs7574865 T allele demonstrated a 37% (OR (95% CI) = 1.37 (1.02-1.85), Pper = 0.036) increased AA risk. In the recessive model, carrier with rs7574865 TT genotype showed a 2.08-fold increased AA risk (OR (95% CI) = 2.08 (1.14-3.70), Pper = 0.017). Additionally, we showed that G allele and GG genotype of rs11209032 were more frequent in the 88 non-severe AA cases than that in the 76 severe AA ones. Our study also found G allele and GG genotype of rs11209032, and GG-genotype of rs744166 associated with the immunosuppressive therapy outcome in AA patients. Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
[Mh] Termos MeSH primário: Anemia Aplástica/genética
Anemia Aplástica/terapia
Imunossupressão
Polimorfismo de Nucleotídeo Único
Receptores de Interleucina/genética
Fator de Transcrição STAT3/genética
Fator de Transcrição STAT4/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anemia Aplástica/imunologia
Anemia Aplástica/fisiopatologia
Grupo com Ancestrais do Continente Asiático
Estudos de Casos e Controles
China
Feminino
Seguimentos
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Subunidade p40 da Interleucina-12/genética
Masculino
Meia-Idade
Estudos Retrospectivos
Índice de Gravidade de Doença
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (IL12B protein, human); 0 (IL23R protein, human); 0 (Interleukin-12 Subunit p40); 0 (Receptors, Interleukin); 0 (STAT3 Transcription Factor); 0 (STAT3 protein, human); 0 (STAT4 Transcription Factor); 0 (STAT4 protein, human)
[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:180114
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-018-3227-7


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[PMID]:29214790
[Au] Autor:Lee CJ; Oum CY; Lee Y; Park S; Kang SM; Choi D; Jang Y; Lee JH; Lee SH
[Ad] Endereço:Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
[Ti] Título:Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.
[So] Source:Yonsei Med J;59(1):148-153, 2018 Jan.
[Is] ISSN:1976-2437
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from 13545 Korean subjects. Five candidate genes, LPL, APOC2, GPIHBP1, APOA5, and LMF1, were sequenced by targeted next-generation sequencing. Predictions of functional effects were performed and matched against public databases of variants. Ten rare variants of three genes were found in nine (34.6%) patients (three in LPL, four in APOA5, and three in LMF1). Five were novel and all variants were suspected of being disease-causing. Nine were heterozygous, and one (3.8%) had a homozygous rare variant of LPL. Six common variants of four genes were observed in 25 (96.2%) patients (one in LPL, one in GPIHBP1, two in APOA5, and two in LMF1). The c.G41T variant of GPIHBP1 and c.G533T variant of APOA5 were most frequent and found in 15 (57.7%) and 14 (53.8%) patients, respectively. Rare homozygous variants of the genes were very uncommon, while diverse rare heterozygous variants were commonly identified. Taken together, most study subjects may be manifesting the combined effects of rare heterozygous variants and common variants.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Variação Genética
Lipólise/genética
Triglicerídeos/sangue
[Mh] Termos MeSH secundário: Apolipoproteína A-V
Feminino
Estudos de Associação Genética
Heterozigoto
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoprotein A-V); 0 (Triglycerides)
[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:171208
[St] Status:MEDLINE
[do] DOI:10.3349/ymj.2018.59.1.148



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