Base de dados : MEDLINE
Pesquisa : C10.597.742 [Categoria DeCS]
Referências encontradas : 44266 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 4427 ir para página                         

  1 / 44266 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29377906
[Au] Autor:Qi J; Kim M; Sanchez R; Ziaee SM; Kohtz JD; Koh S
[Ad] Endereço:Neurobiology Program, Stanley Manne Children's Research Institute, Chicago, IL United States of America.
[Ti] Título:Enhanced susceptibility to stress and seizures in GAD65 deficient mice.
[So] Source:PLoS One;13(1):e0191794, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Reduced gamma-aminobutyric acid (GABA) inhibition has been implicated in both anxiety and epilepsy. GAD65-/- (NOD/LtJ) mice have significantly decreased basal GABA levels in the brain and a lowered threshold for seizure generation. One fifth of GAD65 -/- mice experienced stress-induced seizures upon exposure to an open field at 4 weeks of age. In each successive week until 8 weeks of age, the latency to seizures decreased with prior seizure experience. 100% of GAD65-/- mice exhibited stress-induced seizures by the end of 8 weeks. GAD65-/- mice also exhibited marked impairment in open field exploratory behavior and deficits in spatial learning acquisition on a Barnes maze. Anxiety-like behavior in an open field was observed prior to seizure onset and was predictive of subsequent seizures. Immunohistochemical characterization of interneuron subtypes in GAD65-/- mice showed a selective decrease in GABA and neuropeptide Y (NPY) levels and no change in calbindin (CLB) or calretinin (CLR) immunoreactivity in the hippocampus. Stem cells from the medial ganglionic eminence (MGE) were injected into the hippocampal hilus to restore GABAergic interneurons. One week after transplantation, MGE-transplanted mice demonstrated significant seizure resistance compared to sham surgical controls. The percent area of GFP+ MGE graft in the hippocampus correlated significantly with the increase in seizure latency. Our data indicate that impaired GABAergic neurotransmission can cause anxiety-like behavior and stress-induced seizures that can be rescued by MGE stem cell transplantation.
[Mh] Termos MeSH primário: Glutamato Descarboxilase/genética
Convulsões/genética
Estresse Fisiológico
[Mh] Termos MeSH secundário: Animais
Camundongos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 4.1.1.15 (Glutamate Decarboxylase)
[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:180130
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191794


  2 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28462391
[Au] Autor:Nishimura M; Casanova JR; Swann JW
[Ad] Endereço:The Cain Foundation Laboratories, The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030.
[Ti] Título:The Impact of Electrographic Seizures on Developing Hippocampal Dendrites Is Calcineurin Dependent.
[So] Source:eNeuro;4(2), 2017 Mar-Apr.
[Is] ISSN:2373-2822
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neurobehavioral abnormalities are commonly associated with intractable childhood epilepsy. Studies from numerous labs have demonstrated cognitive and socialization deficits in rats and mice that have experienced early-life seizures. However, the cellular and molecular mechanisms underlying these effects are unknown. Previously, experiments have shown that recurrent seizures in infancy suppress the growth of hippocampal dendrites at the same time they impair learning and memory. Experiments in slice cultures have also demonstrated dendrite growth suppression. Here, we crossed calcineurin B1 (CaNB1) floxed and Thy1GFP-M mice to produce mice that were homozygous for the both the floxed CaNB1 and the Thy1GFP-M transgene. Littermates that were homozygous for wild-type CaNB1 and Thy1GFP-M served as controls. Hippocampal slice cultures from these mice were transfected with an AAV/hSyn-mCherry-Cre virus to eliminate CaNB1 from neurons. Immunohistochemical results showed that CaNB1 was eliminated from at least 90% of the transfected CA1 pyramidal cells. Moreover, the CaN-dependent nuclear translocation of the CREB transcription coactivator, CREB-regulated transcriptional coactivator 1 (CRTC1), was blocked in transfected neurons. Cell attach patch recordings combined with live multiphoton imaging demonstrated that the loss of CaNB1 did not prevent neurons from fully participating in electrographic seizure activity. Finally, dendrite reconstruction showed that the elimination of CaNB1 prevented seizure-induced decreases in both dendrite length and branch number. Results suggest that CaN plays a key role in seizure-induced dendrite growth suppression and may contribute to the neurobehavioral comorbidities of childhood epilepsy.
[Mh] Termos MeSH primário: Calcineurina/metabolismo
Dendritos/metabolismo
Hipocampo/metabolismo
Neurônios/metabolismo
Fosfoproteínas/metabolismo
Convulsões/metabolismo
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Aprendizagem/fisiologia
Memória/fisiologia
Camundongos
Células Piramidais/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cabin1 protein, mouse); 0 (Phosphoproteins); EC 3.1.3.16 (Calcineurin)
[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


  3 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28457510
[Au] Autor:Kanawaku Y; Hirakawa K; Koike K; Kanetake J; Ohno Y
[Ad] Endereço:Department of Legal Medicine, Nippon Medical School, 1-1-5 Sendagi Bunkyo-ku, Tokyo 113-8602, Japan. Electronic address: ykanawaku@nifty.com.
[Ti] Título:Pattern recognition analysis of proton nuclear magnetic resonance spectra of postmortem cerebrospinal fluid from rats with drug-induced seizure or coma.
[So] Source:Leg Med (Tokyo);25:52-58, 2017 Mar.
[Is] ISSN:1873-4162
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Cerebrospinal fluid (CSF) is routinely subjected to gross evaluation in postmortem investigations; however, its use in chemical evaluations has not been fully realized. Analysis of nuclear magnetic resonance (NMR) spectra with pattern recognition methods was applied to CSF samples. Rats were treated with pentylenetetrazol (PTZ) to induce seizure or pentobarbital (PB) to induce coma, and postmortem CSF was collected after CO gas euthanization. Pattern recognition analysis of the NMR data was performed on individual postmortem CSF samples. The aim of this study was to determine if pattern recognition analysis of NMR data could be used to classify the rats according to their drug treatment. The applicability of NMR data with pattern recognition analysis using postmortem CSF was also assessed. Partial Least Squares-Discriminant Analysis (PLS-DA) score plots indicated that the PTZ, PB, and NS (control) groups were clustered and clearly separated. PLS-DA correlation loading plots showed respective spectral and category variances of 41% and 42% for factor 1, and 17% and 27% for factor 2. Thus, factors 1 and 2 together described 58% (41%+17%) and 69% (42%+27%) of the variation, respectively. NMR study of postmortem CSF has the potential to be utilized as both a novel forensic neurochemistry method and in the clinical setting.
[Mh] Termos MeSH primário: Líquido Cefalorraquidiano/efeitos dos fármacos
Coma/induzido quimicamente
Espectroscopia de Ressonância Magnética
Mudanças Depois da Morte
Convulsões/induzido quimicamente
[Mh] Termos MeSH secundário: Animais
Convulsivantes/toxicidade
Análise Discriminante
Hipnóticos e Sedativos/toxicidade
Metabolômica
Pentobarbital/toxicidade
Pentilenotetrazol/toxicidade
Ratos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Convulsants); 0 (Hypnotics and Sedatives); I4744080IR (Pentobarbital); WM5Z385K7T (Pentylenetetrazole)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE


  4 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29231636
[Au] Autor:Henning O; Nakken KO
[Ti] Título:Atferdsstans..
[So] Source:Tidsskr Nor Laegeforen;137(23-24), 2017 12 12.
[Is] ISSN:0807-7096
[Cp] País de publicação:Norway
[La] Idioma:nor
[Mh] Termos MeSH primário: Convulsões/classificação
Terminologia como Assunto
[Mh] Termos MeSH secundário: Epilepsia/classificação
Seres Humanos
Noruega
Traduções
[Pt] Tipo de publicação:LETTER
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.4045/tidsskr.17.0910


  5 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29351559
[Au] Autor:Hameed Z; Saleem S; Mirza J; Mustafa MS; Qamar-Ul-Islam
[Ad] Endereço:Department of Electrical Engineering, Institute of Space Technology, Islamabad, Pakistan.
[Ti] Título:Characterisation of ictal and interictal states of epilepsy: A system dynamic approach of principal dynamic modes analysis.
[So] Source:PLoS One;13(1):e0191392, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Epilepsy is a brain disorder characterised by the recurrent and unpredictable interruptions of normal brain function, called epileptic seizures. The present study attempts to derive new diagnostic indices which may delineate between ictal and interictal states of epilepsy. To achieve this, the nonlinear modeling approach of global principal dynamic modes (PDMs) is adopted to examine the functional connectivity of the temporal and frontal lobes with the occipital brain segment using an ensemble of paediatric EEGs having the presence of epileptic seizure. The distinct spectral characteristics of global PDMs are found to be in line with the neural rhythms of brain dynamics. Moreover, we find that the linear trends of associated nonlinear functions (ANFs) associated with the 2nd and 4th global PDMs (representing delta, theta and alpha bands) of Fp1-F3 may differentiate between ictal and interictal states of epilepsy. These findings suggest that global PDMs and their associated ANFs may offer potential utility as diagnostic neural measures for ictal and interictal states of epilepsy.
[Mh] Termos MeSH primário: Epilepsia/diagnóstico
Epilepsia/fisiopatologia
[Mh] Termos MeSH secundário: Criança
Eletroencefalografia/estatística & dados numéricos
Lobo Frontal/fisiopatologia
Seres Humanos
Modelos Neurológicos
Dinâmica não Linear
Convulsões/diagnóstico
Convulsões/fisiopatologia
Análise de Sistemas
Lobo Temporal/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180120
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191392


  6 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28458027
[Au] Autor:Herta J; Koren J; Fürbass F; Zöchmeister A; Hartmann M; Hosmann A; Baumgartner C; Gruber A
[Ad] Endereço:Department of Neurosurgery, Medical University of Vienna, Vienna, Austria. Electronic address: johannes.herta@meduniwien.ac.at.
[Ti] Título:Applicability of NeuroTrend as a bedside monitor in the neuro ICU.
[So] Source:Clin Neurophysiol;128(6):1000-1007, 2017 06.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To assess whether ICU caregivers can correctly read and interpret continuous EEG (cEEG) data displayed with the computer algorithm NeuroTrend (NT) with the main attention on seizure detection and determination of sedation depth. METHODS: 120 screenshots of NT (480h of cEEG) were rated by 18 briefly trained nurses and biomedical analysts. Multirater agreements (MRA) as well as interrater agreements (IRA) compared to an expert opinion (EXO) were calculated for items such as pattern type, pattern location, interruption of recording, seizure suspicion, consistency of frequency, seizure tendency and level of sedation. RESULTS: MRA as well as IRA were almost perfect (80-100%) for interruption of recording, spike-and-waves, rhythmic delta activity and burst suppression. A substantial agreement (60-80%) was found for electrographic seizure patterns, periodic discharges and seizure suspicion. Except for pattern localization (70.83-92.26%), items requiring a precondition and especially those who needed interpretation like consistency of frequency (47.47-79.15%) or level of sedation (41.10%) showed lower agreements. CONCLUSIONS: The present study demonstrates that NT might be a useful bedside monitor in cases of subclinical seizures. Determination of correct sedation depth by ICU caregivers requires a more detailed training. SIGNIFICANCE: Computer algorithms may reduce the workload of cEEG analysis in ICU patients.
[Mh] Termos MeSH primário: Cuidados Críticos/métodos
Eletroencefalografia/instrumentação
Monitorização Neurofisiológica/instrumentação
Sistemas Automatizados de Assistência Junto ao Leito
Convulsões/diagnóstico
Software
[Mh] Termos MeSH secundário: Adulto
Atitude do Pessoal de Saúde
Eletroencefalografia/métodos
Seres Humanos
Unidades de Terapia Intensiva
Meia-Idade
Monitorização Neurofisiológica/métodos
Enfermeiras Especialistas/psicologia
Enfermeiras Especialistas/normas
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE


  7 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29390256
[Au] Autor:Yu W; Qu W; Wang Z; Xin C; Jing R; Shang Y; Zou H; Wang H; Feng S
[Ad] Endereço:Hematology Department, Yantai Affiliated Hospital, Binzhou Medical University, Yantai.
[Ti] Título:Sjogren's syndrome complicating pancytopenia, cerebral hemorrhage, and damage in nervous system: A case report and literature review.
[So] Source:Medicine (Baltimore);96(50):e8542, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Sjogren's syndrome(SS) is a chronic autoimmune disease, which damages exocrine glands especially salivary and lacrimal glands, with xerostomia and xerophthalmia as common symptoms. PATIENT CONCERNS: We report a case of a 49-year-old woman presented with pancytopenia. Her laboratory examinations lead us diagnose her as Sjogren's syndrome complicating pancytopenia. She had neurological symptoms during her treatment, which represent only 4.5% of Sjogren's syndrome complicating damage in nervous system. DIAGNOSES: Sjogren's syndrome complicating pancytopenia. INTERVENTIONS: Dexamethasone (40mg QD for 4 days) and immunoglobulin (25g QD for 2 days) were administered for intensive treatment followed by oral methylprednisolone 40mg QD as maintenance treatment. Total glucosides of paeony 0.6g TID and danazol 0.2g BID per os were given. We also gave her Piperacillin-tazobactam and moxifloxacin for anti-infection and Fluconazole for anti-fungal therapy, as well as other supportive treatments. OUTCOMES: Follow-up of the patient observed the normalization of peripheral blood cell count, immunity indices and neurological examinations 6 months after discharge. LESSONS: For patients presented with blood system abnormalities unilineage or multiple-lineage cytopenia in particular, history investigations and relevant examinations should be considered to exclude the existence of autoimmune diseases like Sjogren's syndrome.
[Mh] Termos MeSH primário: Hemorragia Cerebral/etiologia
Pancitopenia/etiologia
Síndrome de Sjogren/complicações
[Mh] Termos MeSH secundário: Dexametasona/uso terapêutico
Equimose/etiologia
Feminino
Glucocorticoides/uso terapêutico
Cefaleia/etiologia
Seres Humanos
Imunoglobulinas Intravenosas/uso terapêutico
Metilprednisolona/uso terapêutico
Meia-Idade
Convulsões/etiologia
Síndrome de Sjogren/tratamento farmacológico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Glucocorticoids); 0 (Immunoglobulins, Intravenous); 7S5I7G3JQL (Dexamethasone); X4W7ZR7023 (Methylprednisolone)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008542


  8 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29220646
[Au] Autor:Hu P; Fabyanic E; Kwon DY; Tang S; Zhou Z; Wu H
[Ad] Endereço:Department of Genetics, University of Pennsylvania, Philadelphia PA 19104, USA; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104, USA.
[Ti] Título:Dissecting Cell-Type Composition and Activity-Dependent Transcriptional State in Mammalian Brains by Massively Parallel Single-Nucleus RNA-Seq.
[So] Source:Mol Cell;68(5):1006-1015.e7, 2017 Dec 07.
[Is] ISSN:1097-4164
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Massively parallel single-cell RNA sequencing can precisely resolve cellular diversity in a high-throughput manner at low cost, but unbiased isolation of intact single cells from complex tissues such as adult mammalian brains is challenging. Here, we integrate sucrose-gradient-assisted purification of nuclei with droplet microfluidics to develop a highly scalable single-nucleus RNA-seq approach (sNucDrop-seq), which is free of enzymatic dissociation and nucleus sorting. By profiling ∼18,000 nuclei isolated from cortical tissues of adult mice, we demonstrate that sNucDrop-seq not only accurately reveals neuronal and non-neuronal subtype composition with high sensitivity but also enables in-depth analysis of transient transcriptional states driven by neuronal activity, at single-cell resolution, in vivo.
[Mh] Termos MeSH primário: Núcleo Celular/metabolismo
Córtex Cerebral/metabolismo
Sequenciamento de Nucleotídeos em Larga Escala
Neurônios/metabolismo
RNA/genética
Convulsões/genética
Análise de Sequência de RNA/métodos
Análise de Célula Única/métodos
Transcrição Genética
[Mh] Termos MeSH secundário: Animais
Núcleo Celular/patologia
Centrifugação com Gradiente de Concentração
Córtex Cerebral/patologia
Córtex Cerebral/fisiopatologia
Modelos Animais de Doenças
Células-Tronco Embrionárias Humanas/metabolismo
Seres Humanos
Cinética
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Técnicas Analíticas Microfluídicas
Células NIH 3T3
Inibição Neural
Neurônios/patologia
Pentilenotetrazol
RNA/metabolismo
Convulsões/metabolismo
Convulsões/patologia
Convulsões/fisiopatologia
Transmissão Sináptica
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
63231-63-0 (RNA); WM5Z385K7T (Pentylenetetrazole)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  9 / 44266 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27774838
[Au] Autor:Myles PS; Smith JA; Forbes A; Silbert B; Jayarajah M; Painter T; Cooper DJ; Marasco S; McNeil J; Bussières JS; McGuinness S; Byrne K; Chan MT; Landoni G; Wallace S; ATACAS Investigators of the ANZCA Clinical Trials Network
[Ad] Endereço:From the Alfred Hospital (P.S.M., D.J.C., S. Marasco, S.W.) and Monash University (P.S.M., J.A.S., A.F., D.J.C., S. Marasco, J.M., S.W.), Melbourne, VIC, St. Vincent's Hospital, Fitzroy, VIC (B.S.), and the Royal Adelaide Hospital, Adelaide, SA (T.P.) - all in Australia; South West Cardiac Centre, D
[Ti] Título:Tranexamic Acid in Patients Undergoing Coronary-Artery Surgery.
[So] Source:N Engl J Med;376(2):136-148, 2017 01 12.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Tranexamic acid reduces the risk of bleeding among patients undergoing cardiac surgery, but it is unclear whether this leads to improved outcomes. Furthermore, there are concerns that tranexamic acid may have prothrombotic and proconvulsant effects. METHODS: In a trial with a 2-by-2 factorial design, we randomly assigned patients who were scheduled to undergo coronary-artery surgery and were at risk for perioperative complications to receive aspirin or placebo and tranexamic acid or placebo. The results of the tranexamic acid comparison are reported here. The primary outcome was a composite of death and thrombotic complications (nonfatal myocardial infarction, stroke, pulmonary embolism, renal failure, or bowel infarction) within 30 days after surgery. RESULTS: Of the 4662 patients who were enrolled and provided consent, 4631 underwent surgery and had available outcomes data; 2311 were assigned to the tranexamic acid group and 2320 to the placebo group. A primary outcome event occurred in 386 patients (16.7%) in the tranexamic acid group and in 420 patients (18.1%) in the placebo group (relative risk, 0.92; 95% confidence interval, 0.81 to 1.05; P=0.22). The total number of units of blood products that were transfused during hospitalization was 4331 in the tranexamic acid group and 7994 in the placebo group (P<0.001). Major hemorrhage or cardiac tamponade leading to reoperation occurred in 1.4% of the patients in the tranexamic acid group and in 2.8% of the patients in the placebo group (P=0.001), and seizures occurred in 0.7% and 0.1%, respectively (P=0.002 by Fisher's exact test). CONCLUSIONS: Among patients undergoing coronary-artery surgery, tranexamic acid was associated with a lower risk of bleeding than was placebo, without a higher risk of death or thrombotic complications within 30 days after surgery. Tranexamic acid was associated with a higher risk of postoperative seizures. (Funded by the Australian National Health and Medical Research Council and others; ATACAS Australia New Zealand Clinical Trials Registry number, ACTRN12605000557639 .).
[Mh] Termos MeSH primário: Antifibrinolíticos/uso terapêutico
Ponte de Artéria Coronária
Hemorragia/prevenção & controle
Complicações Intraoperatórias/prevenção & controle
Ácido Tranexâmico/uso terapêutico
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Antifibrinolíticos/efeitos adversos
Aspirina/uso terapêutico
Transfusão de Sangue/estatística & dados numéricos
Doença da Artéria Coronariana/mortalidade
Doença da Artéria Coronariana/cirurgia
Método Duplo-Cego
Feminino
Valvas Cardíacas/cirurgia
Hemorragia/induzido quimicamente
Seres Humanos
Masculino
Meia-Idade
Inibidores da Agregação de Plaquetas/uso terapêutico
Complicações Pós-Operatórias/induzido quimicamente
Reoperação/estatística & dados numéricos
Convulsões/induzido quimicamente
Trombose/induzido quimicamente
Ácido Tranexâmico/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Antifibrinolytic Agents); 0 (Platelet Aggregation Inhibitors); 6T84R30KC1 (Tranexamic Acid); R16CO5Y76E (Aspirin)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMoa1606424


  10 / 44266 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29220673
[Au] Autor:Martin S; Chamberlin A; Shinde DN; Hempel M; Strom TM; Schreiber A; Johannsen J; Ousager LB; Larsen MJ; Hansen LK; Fatemi A; Cohen JS; Lemke J; Sørensen KP; Helbig KL; Lessel D; Abou Jamra R
[Ad] Endereço:Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.
[Ti] Título:De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
[So] Source:Am J Hum Genet;101(6):1013-1020, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward the center of the pore region and most likely lead to disturbance of the gating mechanism. The fourth variant in the SYTANLAAF motif most likely results in reduced permeability. The variant in the extracellular domain potentially interferes with the binding between the monomers. On the basis of clinical information and genetic results, and the fact that other subunits of the AMPA receptor have already been associated with neurodevelopmental disorders, we suggest that pathogenic de novo variants in GRIA4 lead to intellectual disability with or without seizures, gait abnormalities, problems of social behavior, and other variable features.
[Mh] Termos MeSH primário: Transtornos Neurológicos da Marcha/genética
Deficiência Intelectual/genética
Transtornos dos Movimentos/genética
Receptores de AMPA/genética
Convulsões/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Pré-Escolar
Feminino
Seres Humanos
Masculino
Modelos Moleculares
Comportamento Problema
Comportamento Social
Sequenciamento Completo do Exoma
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, AMPA); 0 (glutamate receptor ionotropic, AMPA 4)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE



página 1 de 4427 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