Base de dados : MEDLINE
Pesquisa : A11.284.187.520.300.460 [Categoria DeCS]
Referências encontradas : 588 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 59 ir para página                         

  1 / 588 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:25683183
[Au] Autor:Haidar A; Arekapudi S; DeMattia F; Abu-Isa E; Kraut M
[Ad] Endereço:Department of Internal Medicine, Providence Hospital and Medical Centers, Southfield, MI, USA.
[Ti] Título:High-grade undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: emerging entities of soft tissue tumors with unique histopathologic features--a case report and literature review.
[So] Source:Am J Case Rep;16:87-94, 2015 Feb 16.
[Is] ISSN:1941-5923
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: A subset of undifferentiated small round cell sarcomas (USRCSs) is currently being recognized as emerging entities with unique gene fusions: CIC-DUX4 (the area of focus in this article), BCOR-CCNB3, or CIC-FOXO4 gene fusions. CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors. CIC-DUX4 fusion can either harbor t(4;19)(q35;q13.1) or t(10;19)(q26.3;q13), while t(4;19)(q35;q13.1) is reported more commonly. CASE REPORT: The aim of this study is to share a new case report of a 36-year-old woman who had a rapidly growing mass in her right upper thigh, which was found to be an undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion was confirmed by cytogenetic testing. Combined modality treatment with surgery, radiation, and chemotherapy was used and achieved a good response. A review of the literature of the reported cases with CIC-DUX4 fusions including both t(4;19) and t(10;19) translocations revealed a total of 44 cases reported. Out of these 44 cases, 33 showed t(4;19)(q35;q13.1) translocation compared to 11 cases with t(10;19)(q26.3;q13). CONCLUSIONS: Undifferentiated small round cell sarcomas are aggressive tumors. Their treatment includes surgery, chemotherapy, and radiation. Resistance to chemotherapy is common. Lung and brain are common sites of metastasis, with associated poor prognosis. Generally, median survival is less than 2 years. Newer techniques have been developed recently which helped identify a subset of previously unclassifiable sarcomas, with promising prognostic value.
[Mh] Termos MeSH primário: Proteínas de Fusão Oncogênicas/fisiologia
Sarcoma de Células Pequenas/genética
Sarcoma de Células Pequenas/patologia
Neoplasias de Tecidos Moles/genética
Neoplasias de Tecidos Moles/patologia
Translocação Genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos 19-20
Cromossomos Humanos 4-5
Feminino
Seres Humanos
Coxa da Perna
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CIC-DUX4 fusion protein, human); 0 (Oncogene Proteins, Fusion)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:151028
[Lr] Data última revisão:
151028
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150217
[St] Status:MEDLINE
[do] DOI:10.12659/AJCR.892551


  2 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:25567591
[Au] Autor:Yao K; Duan Z; Hu Z; Bian Y; Qi X
[Ad] Endereço:Department of Pathology, Beijing Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China.
[Ti] Título:[Correlation of chromosome 1p and 19q status and expression of R132H mutant IDH1 protein in oligodendroglial tumors].
[So] Source:Zhonghua Bing Li Xue Za Zhi;43(10):663-7, 2014 Oct.
[Is] ISSN:0529-5807
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To correlate the presence of chromosome 1p/19q deletion with the expression of R132H mutant IDH1 status in oligodendroglial tumors, and to explore molecular markers for predicting chemosensitivity of oligodendroglial tumors. METHODS: The study included 75 oligodendroglial tumors (38 oligodendrogliomas and 37 oligoastrocytomas). Immunohistochemistry was used to detect the expression of R132H mutant IDH1 protein, and fluorescence in situ hybridization (FISH) was employed to detect 1p/19q deletion. RESULTS: Deletion of chromosome 1p and/or 19q was detected in 37 cases (37/75, 49.3%), among which co-deletion of 1p and 19q was seen in 34 cases (closely correlated, P < 0.01). Oligodendrogliomas WHOIIhad a slightly higher deletion rate than oligodendrogliomas WHO III, although without statistical significance. Oligodendrogliomas WHO IIand WHO III had a significantly higher deletion rate of chromosome 1p/19q than oligoastrocytomas WHO II and WHO III (P < 0.05). While combined loss of 1p/19q was always detected in oligodendrogliomas when FISH was positive, isolated 1p or 19q deletion was only found in oligoastrocytomas. The expression of R132H mutant IDH1 was detected in 51 of 75 cases (68.0%), in which oligodendrogliomas had a higher positive rate than oligoastrocytomas. Statistical analysis demonstrated a significant correlation between the expression of R132H mutant IDH1 protein and the presence of combined 1p/19q deletion in oligodendrogliomas (P < 0.05). CONCLUSIONS: A significant correlation was observed between the expression of R132H mutant protein and 1p/19q LOH.Expression of 132H mutant IDH1 protein is the potential biomarker for predicating the presence of 1p/19q deletion in oligodendrogliomas.
[Mh] Termos MeSH primário: Neoplasias Encefálicas/genética
Deleção Cromossômica
Cromossomos Humanos 19-20/genética
Isocitrato Desidrogenase/genética
Proteínas Mutantes/metabolismo
Proteínas de Neoplasias/genética
Oligodendroglioma/genética
[Mh] Termos MeSH secundário: Idoso
Neoplasias Encefálicas/metabolismo
Cromossomos Humanos Par 1
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Isocitrato Desidrogenase/metabolismo
Meia-Idade
Proteínas de Neoplasias/metabolismo
Oligodendroglioma/metabolismo
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mutant Proteins); 0 (Neoplasm Proteins); EC 1.1.1.41 (Isocitrate Dehydrogenase); EC 1.1.1.42. (IDH1 protein, human)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:160818
[Lr] Data última revisão:
160818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150109
[St] Status:MEDLINE


  3 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:23166088
[Au] Autor:Mefford HC; Cook J; Gospe SM
[Ad] Endereço:Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington 98105, USA.
[Ti] Título:Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
[So] Source:Am J Med Genet A;158A(12):3190-5, 2012 Dec.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin. Since the discovery of molecular basis of this disorder, a few patients have been reported with a similar clinical phenotype but without evidence of antiqutin dysfunction. We report on a patient who had carried a clinical diagnosis of PDE for 7 years, but who was than shown to have normal ALDH7A1 sequencing and the absence of biomarkers characteristic of this familial epilepsy. Array comparative genomic hybridization (CGH) demonstrated a 1.5-Mb terminal deletion of the long arm of chromosome 20, which included deletion of the KCNQ2 and CHRNA4 genes, both of which have been associated with specific epilepsy syndromes. We suggest that this boy's neonatal epilepsy and neurodevelopmental disabilities are secondary to this deletion and that his clinical response to pyridoxine was coincidental. This patient's history emphasizes the utility of array CGH in the evaluation of children with epilepsy of unknown etiology.
[Mh] Termos MeSH primário: Cromossomos Humanos 19-20
Epilepsia/genética
Deleção de Sequência
[Mh] Termos MeSH secundário: Aldeído Desidrogenase/genética
Criança
Diagnóstico Diferencial
Epilepsia/diagnóstico
Seres Humanos
Canal de Potássio KCNQ2/genética
Masculino
Mutação
Receptores Nicotínicos/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KCNQ2 Potassium Channel); 0 (KCNQ2 protein, human); 0 (Receptors, Nicotinic); 0 (nicotinic acetylcholine receptor alpha4 subunit); EC 1.2.1.3 (ALDH7A1 protein, human); EC 1.2.1.3 (Aldehyde Dehydrogenase)
[Em] Mês de entrada:1308
[Cu] Atualização por classe:121123
[Lr] Data última revisão:
121123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:121121
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.35633


  4 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:22738216
[Au] Autor:Meletti S; Vignoli A; Benuzzi F; Avanzini P; Ruggieri A; Pugnaghi M; Nichelli P; Canevini MP
[Ad] Endereço:Department of Neuroscience, NOCSAE Hospital, University of Modena e Reggio Emilia, Modena, Italy. stefano.meletti@unimore.it
[Ti] Título:Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy.
[So] Source:Epilepsia;53(8):e156-60, 2012 Aug.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Studies in animal models and patients with epilepsy have suggested that basal ganglia circuits may control epileptic seizures and that striatal dopaminergic transmission may play a role in seizure modulation and interruption. Chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, with prolonged episodes of nonconvulsive status epilepticus suggesting dysfunction in the seizure control system. We present the ictal blood oxygen level-dependent (BOLD) changes in brief seizures recorded by means of electroencephalography-functional magnetic resonance imaging (EEG-fMRI) coregistration in a patient with [r(20)] syndrome. We observed ictal BOLD increments in a cortical-subcortical network involving substantia nigrastriatum and frontal cortex. At present, this is the first functional neuroimaging evidence of the involvement of the nigrostriatal system during ictal EEG discharges in [r(20)] syndrome supporting a role of the basal ganglia circuits in human epileptic seizures.
[Mh] Termos MeSH primário: Cromossomos Humanos 19-20/genética
Epilepsia/genética
Cromossomos em Anel
[Mh] Termos MeSH secundário: Adolescente
Encéfalo/fisiopatologia
Corpo Estriado/fisiopatologia
Eletroencefalografia
Epilepsia/fisiopatologia
Feminino
Neuroimagem Funcional
Seres Humanos
Imagem por Ressonância Magnética
Estado Epiléptico/genética
Estado Epiléptico/fisiopatologia
Substância Negra/fisiopatologia
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1210
[Cu] Atualização por classe:120813
[Lr] Data última revisão:
120813
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120629
[St] Status:MEDLINE
[do] DOI:10.1111/j.1528-1167.2012.03568.x


  5 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:20149069
[Au] Autor:Relf BL; Larkin EK; De Torres C; Baur LA; Christodoulou J; Waters KA
[Ad] Endereço:Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia.
[Ti] Título:Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea.
[So] Source:J Sleep Res;19(2):349-57, 2010 Jun.
[Is] ISSN:1365-2869
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Increasing evidence supports an association between obstructive sleep apnoea (OSA) and metabolic syndrome (MeS) in both children and adults, suggesting a genetic component. However, the genetic relationship between the diseases remains unclear. We performed a bivariate linkage scan on a single Filipino family with a high prevalence of OSA and MeS to explore the genetic pathways underlying these diseases. A large rural family (n = 50, 50% adults) underwent a 10-cM genome-wide scan. Fasting blood was used to measure insulin, triglycerides, total cholesterol and high density lipoprotein (HDL) cholesterol. Attended overnight polysomnography was used to quantify the respiratory disturbance index (RDI), a measure of sleep apnoea. Body mass index z-scores and insulin resistance scores were calculated. Bivariate multipoint linkage analyses were performed on RDI and MeS components. OSA prevalence was 46% (n = 23; nine adults, 14 children) in our participants. MeS phenotype was present in 40% of adults (n = 10) and 48% of children (n = 12). Linkage peaks with a logarithm of odds (LOD) score >3 were demonstrated on chromosome 19q13.4 (LOD = 3.04) for the trait pair RDI and HDL cholesterol. Candidate genes identified in this region include the killer cell immunoglobulin-like receptor genes. These genes are associated with modulating inflammatory responses in reaction to cellular stress and initiation of atherosclerotic plaque formation. We have identified a novel locus for genetic links between RDI and lipid factors associated with MeS in a chromosomal region containing genes associated with inflammatory responses.
[Mh] Termos MeSH primário: HDL-Colesterol/genética
Estudo de Associação Genômica Ampla
Apneia Obstrutiva do Sono/genética
[Mh] Termos MeSH secundário: Adulto
Índice de Massa Corporal
Criança
Colesterol/sangue
HDL-Colesterol/sangue
Cromossomos Humanos 19-20/genética
Família
Feminino
Ligação Genética/genética
Genótipo
Seres Humanos
Insulina/sangue
Escore Lod
Masculino
Fenótipo
Polissonografia
Receptores KIR/genética
Sono/genética
Sono/fisiologia
Apneia Obstrutiva do Sono/sangue
Triglicerídeos/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Cholesterol, HDL); 0 (Insulin); 0 (Receptors, KIR); 0 (Triglycerides); 97C5T2UQ7J (Cholesterol)
[Em] Mês de entrada:1010
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100213
[St] Status:MEDLINE
[do] DOI:10.1111/j.1365-2869.2009.00797.x


  6 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:19863608
[Au] Autor:Qi P; Ruan CP; Wang H; Zhou FG; Zhao YP; Gu X; Gao CF
[Ad] Endereço:Department of Laboratory Medicine, Eastern Hepatobiliary Hospital, Second Military Medical University, Shanghai, China.
[Ti] Título:-509C>T polymorphism in the TGF-ß1 gene promoter is not associated with susceptibility to and progression of colorectal cancer in Chinese.
[So] Source:Colorectal Dis;12(11):1153-8, 2010 Nov.
[Is] ISSN:1463-1318
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: Colorectal cancer is common, accounting for nearly 10% of all cancers. Transforming growth factor-ß1 (TGF-ß1) is a pleiotropic cytokine that has been implicated in the pathogenesis of colorectal neoplasia. The most studied -509C>T polymorphism of TGF-ß1 gene has been associated with various kinds of cancer. This study investigated the association between this genetic variant and the risk and/or progression of colorectal cancer. METHOD: A case-control study was carried out of 150 colorectal cancer cases and 503 healthy controls. DNA was extracted from blood cell nuclear materials, and -509C>T polymorphism in the TGF-ß1 gene promoter was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Colorectal cancer tissues (n = 70) were obtained from the studied cases for measurement of TGF-ß1 mRNA expression levels. We also assessed the plasma TGF-ß1 levels of cases (n = 88) and healthy subjects (n = 120). RESULTS: The TGF-ß1 producer genotype, -509TT, was not associated with an increased risk of colorectal cancer compared with other genotypes. Colorectal cancer patients especially those with a more aggressive disease behaviour were more frequently associated with C allele. CONCLUSION: The results suggest that TGF-ß1 -509C>T polymorphism is not associated with either an increased risk or progression of colorectal cancer.
[Mh] Termos MeSH primário: Cromossomos Humanos 19-20/genética
Neoplasias Colorretais/genética
Polimorfismo de Nucleotídeo Único/genética
Regiões Promotoras Genéticas/genética
Fator de Crescimento Transformador beta1/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático
Estudos de Casos e Controles
China/epidemiologia
Neoplasias Colorretais/epidemiologia
Progressão da Doença
Feminino
Predisposição Genética para Doença
Genótipo
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Transforming Growth Factor beta1)
[Em] Mês de entrada:1101
[Cu] Atualização por classe:101014
[Lr] Data última revisão:
101014
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:091030
[St] Status:MEDLINE
[do] DOI:10.1111/j.1463-1318.2009.02079.x


  7 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:17185788
[Au] Autor:Diamanti-Kandarakis E; Kandarakis H; Legro RS
[Ad] Endereço:Endocrine Section, First Department of Medicine, University of Athens Medical School, Athens, Greece.
[Ti] Título:The role of genes and environment in the etiology of PCOS.
[So] Source:Endocrine;30(1):19-26, 2006 Aug.
[Is] ISSN:1355-008X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Both genes and the environment contribute to PCOS. Obesity, exacerbated by poor dietary choices and physical inactivity, worsens PCOS in susceptible individuals. The role of other environmental modifiers such as infectious agents or toxins are speculative. Phenotype confusion has characterized genetic studies of PCOS. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, the follistatin gene, and a region near the insulin receptor, the evidence supporting linkage is not overwhelming. The strongest case can be made for the region near the insulin receptor gene (but not involving this gene), as it has been identified in two separate studies, and perhaps most importantly has not yet been refuted by larger studies. However, the responsible gene at chromosome 19p13.3 remains to be identified. To date, no gene has been identified that causes or contributes substantially to the development of a PCOS phenotype.
[Mh] Termos MeSH primário: Cromossomos Humanos 19-20/genética
Meio Ambiente
Obesidade/genética
Síndrome do Ovário Policístico/genética
[Mh] Termos MeSH secundário: Enzima de Clivagem da Cadeia Lateral do Colesterol/genética
Enzima de Clivagem da Cadeia Lateral do Colesterol/fisiologia
Família
Feminino
Folistatina/genética
Folistatina/fisiologia
Predisposição Genética para Doença
Seres Humanos
Insulina/genética
Insulina/fisiologia
Obesidade/patologia
Síndrome do Ovário Policístico/patologia
Receptor de Insulina/genética
Receptor de Insulina/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW
[Nm] Nome de substância:
0 (Follistatin); 0 (Insulin); EC 1.14.15.6 (Cholesterol Side-Chain Cleavage Enzyme); EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:0702
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:061223
[St] Status:MEDLINE


  8 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:14663438
[Au] Autor:Rahbar R; Vargas SO; Miyamoto CR; Perez-Atayde AR; French CA; Robson CD; Licameli GR; Fletcher JA; Marcus KC; Grier HE; McGill TJ; Healy GB
[Ad] Endereço:Department of Otolaryngology, Children's Hospital, Boston, MA 02115, USA. reza.rahbar@childrens.edu
[Ti] Título:The role of chromosomal translocation (15;19) in the carcinoma of the upper aerodigestive tract in children.
[So] Source:Otolaryngol Head Neck Surg;129(6):698-704, 2003 Dec.
[Is] ISSN:0194-5998
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To further evaluate the role of chromosomal translocation (15;19) in the presentation of the carcinoma (CA) of the upper aerodigestive tract. STUDY DESIGN AND SETTING: A retrospective study at a tertiary care pediatric medical center. RESULTS: Seven patients with a mean age of 12 years presented with CA of nasopharynx (N = 2), sinonasal region (N = I), parotid gland (N = 2), or larynx (N = 2). Treatments included combinations of surgery (N = 5), chemotherapy (N = 5), and radiation therapy (N = 4). One patient with sinonasal CA and one patient with laryngeal CA had chromosomal translocation (15;19); these patients both died of their disease with a mean survival of 6 months. The 5 patients without translocation (15;19) responded well to treatment and are disease-free with a mean follow-up of 47 months. CONCLUSION: The preliminary results appear to indicate poor prognosis associated with the presentation of chromosomal translocation (15;19) despite aggressive multi-modality treatment. Further investigation is needed to better understand the cause and relationship of the translocation (15;19) and aggressive behavior of these tumors.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
Neoplasias Laríngeas/genética
Neoplasias Nasofaríngeas/genética
Neoplasias dos Seios Paranasais/genética
Neoplasias Parotídeas/genética
Translocação Genética/genética
[Mh] Termos MeSH secundário: Adolescente
Carcinoma de Células Escamosas/diagnóstico
Carcinoma de Células Escamosas/terapia
Criança
Pré-Escolar
Cromossomos Humanos 13-15
Cromossomos Humanos 19-20
Feminino
Seres Humanos
Neoplasias Laríngeas/diagnóstico
Neoplasias Laríngeas/terapia
Masculino
Neoplasias Nasofaríngeas/diagnóstico
Neoplasias Nasofaríngeas/terapia
Neoplasias dos Seios Paranasais/diagnóstico
Neoplasias dos Seios Paranasais/terapia
Neoplasias Parotídeas/diagnóstico
Neoplasias Parotídeas/terapia
Prognóstico
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:0401
[Cu] Atualização por classe:170214
[Lr] Data última revisão:
170214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:031210
[St] Status:MEDLINE


  9 / 588 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:12678157
[Au] Autor:Suwanwela N; Srikiatkhachorn A; Tangwongchai S; Phanthumchina K; Suwanwela N
[Ad] Endereço:Neurological Unit, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
[Ti] Título:Mutation of the Notch 3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family.
[So] Source:J Med Assoc Thai;86(2):178-82, 2003 Feb.
[Is] ISSN:0125-2208
[Cp] País de publicação:Thailand
[La] Idioma:eng
[Ab] Resumo:The authors report the first Thai family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in which the family members had a classical history of progressive vascular dementia. The proband was a 31-year old Thai male who presented with an acute stroke in the subcortical region. His past history revealed mental disturbance, including poor judgement and regressive behavior as well as mood changes for 1 year. He did not have a history of migraine or any other vascular risk factors except for a strong family history of ischemic stroke and progressive dementia. Magnetic resonance imaging demonstrated multiple small infarctions in the subcortical white matter of the bilateral frontal, parietal and occipital lobes with another small lesion in the pons. Genetic study demonstrated a Notch 3 mutation consisting of the substitution of a nucleotide at position 406 in exon 3 leading to the replacement of an Arginine by Cysteine at position 110 in the 2nd EGF motif, which is compatable with CADASIL.
[Mh] Termos MeSH primário: Infarto Cerebral/genética
Cromossomos Humanos 19-20
Demência por Múltiplos Infartos/genética
Predisposição Genética para Doença
Leucoencefalopatia Multifocal Progressiva/genética
Mutação de Sentido Incorreto
Proteínas Proto-Oncogênicas/genética
Receptores de Superfície Celular
[Mh] Termos MeSH secundário: Adulto
Infarto Cerebral/diagnóstico
Demência por Múltiplos Infartos/diagnóstico
Feminino
Ligação Genética
Seres Humanos
Leucoencefalopatia Multifocal Progressiva/diagnóstico
Masculino
Meia-Idade
Linhagem
Prognóstico
Medição de Risco
Tailândia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proto-Oncogene Proteins); 0 (Receptors, Cell Surface)
[Em] Mês de entrada:0304
[Cu] Atualização por classe:101118
[Lr] Data última revisão:
101118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:030408
[St] Status:MEDLINE


  10 / 588 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
[PMID]:12457874
[Au] Autor:Halford S; Inglis S; Gwilliam R; Spencer P; Mohamed M; Ebenezer ND; Hunt DM
[Ti] Título:Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.
[So] Source:Exp Eye Res;75(5):619-23, 2002 Nov.
[Is] ISSN:0014-4835
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Cromossomos Humanos 19-20/genética
Distrofias Hereditárias da Córnea/genética
Diacilglicerol Colinofosfotransferase/genética
[Mh] Termos MeSH secundário: Animais
Mapeamento Cromossômico
Córnea/fisiopatologia
Éxons/genética
Expressão Gênica/genética
Seres Humanos
Hibridização In Situ
Íntrons/genética
Camundongos
Dados de Sequência Molecular
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 2.7.8.2 (Diacylglycerol Cholinephosphotransferase)
[Em] Mês de entrada:0212
[Cu] Atualização por classe:061115
[Lr] Data última revisão:
061115
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:021130
[St] Status:MEDLINE



página 1 de 59 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde