Base de dados : MEDLINE
Pesquisa : C10.500.507 [Categoria DeCS]
Referências encontradas : 1073 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 108 ir para página                         

  1 / 1073 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29220674
[Au] Autor:Cuvertino S; Stuart HM; Chandler KE; Roberts NA; Armstrong R; Bernardini L; Bhaskar S; Callewaert B; Clayton-Smith J; Davalillo CH; Deshpande C; Devriendt K; Digilio MC; Dixit A; Edwards M; Friedman JM; Gonzalez-Meneses A; Joss S; Kerr B; Lampe AK; Langlois S; Lennon R; Loget P; Ma DYT; McGowan R; Des Medt M; O'Sullivan J; Odent S; Parker MJ; Pebrel-Richard C; Petit F; Stark Z; Stockler-Ipsiroglu S; Tinschert S; Vasudevan P; Villa O; White SM; Zahir FR; Woolf AS; Banka S; DDD Study
[Ad] Endereço:Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK.
[Ti] Título:ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
[So] Source:Am J Hum Genet;101(6):1021-1033, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ACTB encodes ß-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, ß-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic ß-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, ß-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Actinas/genética
Deficiências do Desenvolvimento/genética
Haploinsuficiência/genética
[Mh] Termos MeSH secundário: Actinas/biossíntese
Adolescente
Adulto
Idoso
Animais
Ciclo Celular/genética
Proliferação Celular/genética
Criança
Pré-Escolar
Códon sem Sentido/genética
Coloboma/genética
Facies
Feminino
Mutação da Fase de Leitura/genética
Deleção de Genes
Seres Humanos
Lactente
Recém-Nascido
Deficiência Intelectual/genética
Masculino
Malformações do Desenvolvimento Cortical/genética
Camundongos
Interferência de RNA
RNA Interferente Pequeno/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ACTC1 protein, human); 0 (Actins); 0 (Codon, Nonsense); 0 (RNA, Small Interfering)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  2 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28742248
[Au] Autor:Horn D; Siebert E; Seidel U; Rost I; Mayer K; Abou Jamra R; Mitter D; Kornak U
[Ad] Endereço:Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.
[Ti] Título:Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
[So] Source:Am J Med Genet A;173(9):2534-2538, 2017 Sep.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage. Cerebral MRI showed a peculiar pattern of profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C
[Mh] Termos MeSH primário: Colágeno Tipo III/genética
Deficiências do Desenvolvimento/genética
Síndrome de Ehlers-Danlos/genética
Malformações do Desenvolvimento Cortical/genética
[Mh] Termos MeSH secundário: Encéfalo/anormalidades
Encéfalo/diagnóstico por imagem
Encéfalo/fisiopatologia
Pré-Escolar
Códon sem Sentido
Tecido Conjuntivo/diagnóstico por imagem
Tecido Conjuntivo/fisiopatologia
Deficiências do Desenvolvimento/diagnóstico por imagem
Deficiências do Desenvolvimento/fisiopatologia
Síndrome de Ehlers-Danlos/diagnóstico por imagem
Síndrome de Ehlers-Danlos/fisiopatologia
Feminino
Heterozigoto
Seres Humanos
Masculino
Malformações do Desenvolvimento Cortical/diagnóstico por imagem
Malformações do Desenvolvimento Cortical/fisiopatologia
Mutação de Sentido Incorreto
Linhagem
Fenótipo
Receptores Acoplados a Proteínas-G/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (COL3A1 protein, human); 0 (Codon, Nonsense); 0 (Collagen Type III); 0 (GPR56 protein, human); 0 (Receptors, G-Protein-Coupled)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171130
[Lr] Data última revisão:
171130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38345


  3 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29069555
[Au] Autor:Blumcke I; Spreafico R; Haaker G; Coras R; Kobow K; Bien CG; Pfäfflin M; Elger C; Widman G; Schramm J; Becker A; Braun KP; Leijten F; Baayen JC; Aronica E; Chassoux F; Hamer H; Stefan H; Rössler K; Thom M; Walker MC; Sisodiya SM; Duncan JS; McEvoy AW; Pieper T; Holthausen H; Kudernatsch M; Meencke HJ; Kahane P; Schulze-Bonhage A; Zentner J; Heiland DH; Urbach H; Steinhoff BJ; Bast T; Tassi L; Lo Russo G; Özkara C; Oz B; Krsek P; Vogelgesang S; Runge U; Lerche H; Weber Y; Honavar M; Pimentel J; Arzimanoglou A; Ulate-Campos A; Noachtar S; Hartl E; EEBB Consortium
[Ad] Endereço:From the Departments of Neuropathology (I.B., G.H., R.C., K.K.) and Neurosurgery (K.R.) and the Epilepsy Center (H. Hamer, H.S.), University Hospital Erlangen, Erlangen, the Epilepsy Center Bethel, Krankenhaus Mara, Bielefeld (C.G.B., M.P.), the Departments of Epileptology (C.E., G.W.) and Neuropath
[Ti] Título:Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.
[So] Source:N Engl J Med;377(17):1648-1656, 2017 10 26.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. METHODS: We report the diagnoses made on the basis of resected brain specimens from 9523 patients who underwent epilepsy surgery for drug-resistant seizures in 36 centers from 12 European countries over 25 years. Histopathological diagnoses were determined through examination of the specimens in local hospitals (41%) or at the German Neuropathology Reference Center for Epilepsy Surgery (59%). RESULTS: The onset of seizures occurred before 18 years of age in 75.9% of patients overall, and 72.5% of the patients underwent surgery as adults. The mean duration of epilepsy before surgical resection was 20.1 years among adults and 5.3 years among children. The temporal lobe was involved in 71.9% of operations. There were 36 histopathological diagnoses in seven major disease categories. The most common categories were hippocampal sclerosis, found in 36.4% of the patients (88.7% of cases were in adults), tumors (mainly ganglioglioma) in 23.6%, and malformations of cortical development in 19.8% (focal cortical dysplasia was the most common type, 52.7% of cases of which were in children). No histopathological diagnosis could be established for 7.7% of the patients. CONCLUSIONS: In patients with drug-resistant focal epilepsy requiring surgery, hippocampal sclerosis was the most common histopathological diagnosis among adults, and focal cortical dysplasia was the most common diagnosis among children. Tumors were the second most common lesion in both groups. (Funded by the European Union and others.).
[Mh] Termos MeSH primário: Neoplasias Encefálicas/patologia
Encéfalo/patologia
Epilepsia/patologia
Hipocampo/patologia
Malformações do Desenvolvimento Cortical/patologia
[Mh] Termos MeSH secundário: Adulto
Fatores Etários
Idade de Início
Neoplasias Encefálicas/complicações
Criança
Bases de Dados como Assunto
Epilepsia/etiologia
Epilepsia/cirurgia
Europa (Continente)
Feminino
Seres Humanos
Masculino
Malformações do Desenvolvimento Cortical/complicações
Lobo Temporal/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171026
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMoa1703784


  4 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28833053
[Au] Autor:Wang DD; Piao YS; Blumcke I; Coras R; Zhou WJ; Gui QP; Liu CC; Hu JX; Cao LZ; Zhang GJ; Lu DH
[Ad] Endereço:Department of Pathology, Xuanwu Hospital, Capital Medical University, Beijing, China.
[Ti] Título:A distinct clinicopathological variant of focal cortical dysplasia IIId characterized by loss of layer 4 in the occipital lobe in 12 children with remote hypoxic-ischemic injury.
[So] Source:Epilepsia;58(10):1697-1705, 2017 Oct.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: In 2011, the International League Against Epilepsy (ILAE) proposed a consensus classification system of focal cortical dysplasia (FCD) to distinguish clinicopathological subtypes, for example, "isolated" FCD type Ia-c and IIa-b, versus "associated" FCD type IIIa-d. The histopathological differentiation of FCD type I and III variants remains, however, a challenging issue in everyday practice. We present a unique histopathological pattern in patients with difficult-to-diagnose FCD, which highlights this dilemma, but also helps to refine the current ILAE classification scheme of FCD. METHODS: We present a retrospective series of 11 male and one female patient with early onset pharmacoresistant epilepsy of the posterior quadrant (mean age at seizure onset = 4.6 years). All surgical specimens were reviewed. Clinical histories were retrieved and extracted from archival patient files. RESULTS: Microscopic inspection revealed abnormalities in cortical architecture with complete loss of layer 4 in all surgical samples of the occipital lobe, as confirmed by semiquantitative measurements (p < 0.01). Clinical history reported early transient hypoxic condition in nine patients (75%). Magnetic resonance imaging (MRI) revealed abnormal signals in the occipital lobe in all patients, and signal changes suggestive of subcortical encephalomalacia were found in seven patients. Surgical treatment achieved favorable seizure control (Engel class I and II) in seven patients with an available follow-up period of 6.1 years. SIGNIFICANCE: Prominent disorganization of cortical layering and lack of any other microscopically visible principle lesion in the surgical specimen would result in this neuropathological pattern hitherto being classified as FCD ILAE type Ib. However, perinatal hypoxia with distinctive MRI changes suggested primarily a hypoxemic lesion and acquired pathomechanism of neuronal cell loss in the occipital lobe of our patient series. We propose, therefore, classifying this distinctive clinicopathological pattern as a separate variant of FCD ILAE type IIId.
[Mh] Termos MeSH primário: Epilepsia/patologia
Malformações do Desenvolvimento Cortical/patologia
Lobo Occipital/patologia
[Mh] Termos MeSH secundário: Adolescente
Criança
Epilepsia/classificação
Epilepsia/diagnóstico por imagem
Epilepsia/cirurgia
Feminino
Seres Humanos
Hipóxia-Isquemia Encefálica
Imagem por Ressonância Magnética
Masculino
Malformações do Desenvolvimento Cortical/classificação
Malformações do Desenvolvimento Cortical/diagnóstico por imagem
Malformações do Desenvolvimento Cortical/cirurgia
Lobo Occipital/cirurgia
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170824
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13855


  5 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28833036
[Au] Autor:Nemes AD; O'Dwyer R; Najm IM; Ying Z; Gonzalez-Martinez J; Alexopoulos AV
[Ad] Endereço:Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, U.S.A.
[Ti] Título:Treatment with lacosamide impedes generalized seizures in a rodent model of cortical dysplasia.
[So] Source:Epilepsia;58(10):1755-1761, 2017 Oct.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Epilepsy is a common neurologic disorder resulting in spontaneous, recurrent seizures. About 30-40% of patients are not responsive to pharmacologic therapies. This may be due to the differences between individual patients such as etiology, underlying pathophysiology, and seizure focus, and it highlights the importance of new drug discovery and testing in this field. Our goal was to determine the efficacy of lacosamide (LCM), a drug approved for the treatment of focal seizures, in a model of generalized epilepsy with cortical dysplasia (CD). We sought to compare LCM to levetiracetam (LEV), a drug that is currently used for the treatment of both partial and generalized epilepsy and to test its proficiency. METHODS: Pregnant rats were irradiated to produce pups with malformed cortices in a model of CD, which will be referred to as the "first hit." Adult animals, developed normally (NL) and irradiated (XRT), were surgically implanted with electroencephalography (EEG) electrodes. Baseline EEG was recorded on all rats prior to pretreatments with either LCM, LEV, or placebo (PBO). After 30 min, all rats were injected with a subconvulsive dose of pentylenetetrazole (PTZ), a γ-aminobutyric acid receptor A (GABA ) antagonist used to provoke generalized seizures as a "second hit." RESULTS: LCM and LEV were both effective against seizures induced by PTZ. XRT rats had a higher seizure incidence with longer and more severe seizures than NL rats. Seizure duration was decreased with both LCM and LEV in all animals. In XRT rats, there was a significant reduction in acute seizure incidence and severity with both LCM and LEV after PTZ injection. SIGNIFICANCE: Our results suggest that LCM could be used as a potential treatment option for generalized epilepsy with CD as the underlying pathology.
[Mh] Termos MeSH primário: Acetamidas/farmacologia
Anticonvulsivantes/farmacologia
Malformações do Desenvolvimento Cortical/fisiopatologia
Convulsões/fisiopatologia
[Mh] Termos MeSH secundário: Animais
Eletroencefalografia
Feminino
Antagonistas GABAérgicos/toxicidade
Malformações do Desenvolvimento Cortical/etiologia
Pentilenotetrazol/toxicidade
Piracetam/análogos & derivados
Piracetam/farmacologia
Gravidez
Efeitos Tardios da Exposição Pré-Natal
Exposição à Radiação/efeitos adversos
Ratos
Ratos Sprague-Dawley
Convulsões/induzido quimicamente
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Acetamides); 0 (Anticonvulsants); 0 (GABA Antagonists); 230447L0GL (etiracetam); 563KS2PQY5 (lacosamide); WM5Z385K7T (Pentylenetetrazole); ZH516LNZ10 (Piracetam)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170824
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13856


  6 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28601171
[Au] Autor:Yang E; Chu WCW; Lee EY
[Ad] Endereço:Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address: Edward.Yang@childrens.harvard.edu.
[Ti] Título:A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know.
[So] Source:Radiol Clin North Am;55(4):609-627, 2017 Jul.
[Is] ISSN:1557-8275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation. The importance of identifying abnormalities in the corpus callosum and basal ganglia is also discussed, both for detection and characterization of cerebral malformations.
[Mh] Termos MeSH primário: Diagnóstico por Imagem/métodos
Malformações do Desenvolvimento Cortical/diagnóstico por imagem
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170612
[St] Status:MEDLINE


  7 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28566546
[Au] Autor:Tobochnik S; Fahlstrom R; Shain C; Winawer MR; EPGP Investigators
[Ad] Endereço:From the Department of Neurology and G.H. Sergievsky Center (S.T., M.R.W.), Columbia University, New York, NY; Department of Neurology (R.F.), University of California, San Francisco; and Department of Neurology (C.S.), Boston Children's Hospital, MA.
[Ti] Título:Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
[So] Source:Neurology;89(1):22-28, 2017 Jul 04.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To improve phenotype definition in genetic studies of epilepsy, we assessed the familial aggregation of focal seizure types and of specific seizure symptoms within the focal epilepsies in families from the Epilepsy Phenome/Genome Project. METHODS: We studied 302 individuals with nonacquired focal epilepsy from 149 families. Familial aggregation was assessed by logistic regression analysis of relatives' traits (dependent variable) by probands' traits (independent variable), estimating the odds ratio for each symptom in a relative given presence vs absence of the symptom in the proband. RESULTS: In families containing multiple individuals with nonacquired focal epilepsy, we found significant evidence for familial aggregation of ictal motor, autonomic, psychic, and aphasic symptoms. Within these categories, ictal whole body posturing, diaphoresis, dyspnea, fear/anxiety, and déjà vu/jamais vu showed significant familial aggregation. Focal seizure type aggregated as well, including complex partial, simple partial, and secondarily generalized tonic-clonic seizures. CONCLUSION: Our results provide insight into genotype-phenotype correlation in the nonacquired focal epilepsies and a framework for identifying subgroups of patients likely to share susceptibility genes.
[Mh] Termos MeSH primário: Epilepsias Parciais
Síndrome de Lennox Gastaut
Malformações do Desenvolvimento Cortical
Núcleo Familiar
Espasmos Infantis
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Epilepsias Parciais/epidemiologia
Epilepsias Parciais/genética
Epilepsias Parciais/fisiopatologia
Feminino
Genótipo
Seres Humanos
Lactente
Síndrome de Lennox Gastaut/epidemiologia
Síndrome de Lennox Gastaut/genética
Síndrome de Lennox Gastaut/fisiopatologia
Masculino
Malformações do Desenvolvimento Cortical/epidemiologia
Malformações do Desenvolvimento Cortical/genética
Malformações do Desenvolvimento Cortical/fisiopatologia
Meia-Idade
Linhagem
Fenótipo
Espasmos Infantis/epidemiologia
Espasmos Infantis/genética
Espasmos Infantis/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170602
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004052


  8 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28543030
[Au] Autor:Bartolomei F; Lagarde S; Wendling F; McGonigal A; Jirsa V; Guye M; Bénar C
[Ad] Endereço:Institut de Neurosciences des Systèmes, Aix Marseille University, Marseille, France.
[Ti] Título:Defining epileptogenic networks: Contribution of SEEG and signal analysis.
[So] Source:Epilepsia;58(7):1131-1147, 2017 Jul.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Epileptogenic networks are defined by the brain regions involved in the production and propagation of epileptic activities. In this review we describe the historical, methodologic, and conceptual bases of this model in the analysis of electrophysiologic intracerebral recordings. In the context of epilepsy surgery, the determination of cerebral regions producing seizures (i.e., the "epileptogenic zone") is a crucial objective. In contrast with a traditional focal vision of focal drug-resistant epilepsies, the concept of epileptogenic networks has been progressively introduced as a model better able to describe the complexity of seizure dynamics and realistically describe the distribution of epileptogenic anomalies in the brain. The concept of epileptogenic networks is historically linked to the development of the stereoelectroencephalography (SEEG) method and subsequent introduction of means of quantifying the recorded signals. Seizures, and preictal and interictal discharges produce clear patterns on SEEG. These patterns can be analyzed utilizing signal analysis methods that quantify high-frequency oscillations or changes in functional connectivity. Dramatic changes in SEEG brain connectivity can be described during seizure genesis and propagation within cortical and subcortical regions, associated with the production of different patterns of seizure semiology. The interictal state is characterized by networks generating abnormal activities (interictal spikes) and also by modified functional properties. The introduction of novel approaches to large-scale modeling of these networks offers new methods in the goal of better predicting the effects of epilepsy surgery. The epileptogenic network concept is a key factor in identifying the anatomic distribution of the epileptogenic process, which is particularly important in the context of epilepsy surgery.
[Mh] Termos MeSH primário: Encéfalo/fisiopatologia
Eletroencefalografia/métodos
Epilepsia/fisiopatologia
Rede Nervosa/fisiopatologia
Processamento de Sinais Assistido por Computador
[Mh] Termos MeSH secundário: Algoritmos
Mapeamento Encefálico/métodos
Córtex Cerebral/fisiopatologia
Córtex Cerebral/cirurgia
Eletrocorticografia/métodos
Eletrodos Implantados
Epilepsias Parciais/fisiopatologia
Epilepsias Parciais/cirurgia
Epilepsia/cirurgia
Potenciais Evocados/fisiologia
Seres Humanos
Malformações do Desenvolvimento Cortical/fisiopatologia
Malformações do Desenvolvimento Cortical/cirurgia
Modelos Teóricos
Rede Nervosa/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13791


  9 / 1073 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28498956
[Au] Autor:Goldstein IS; Erickson DJ; Sleeper LA; Haynes RL; Kinney HC
[Ad] Endereço:From the Department of Pathology, Boston Children's Hospital and Harvard Medical School (ISG, DJE, RLH, HCK); and Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA (LAS).
[Ti] Título:The Lateral Temporal Lobe in Early Human Life.
[So] Source:J Neuropathol Exp Neurol;76(6):424-438, 2017 Jun 01.
[Is] ISSN:1554-6578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Abnormalities of lateral temporal lobe development are associated with a spectrum of genetic and environmental pathologic processes, but more normative data are needed for a better understanding of gyrification in this brain region. Here, we begin to establish guidelines for the analysis of the lateral temporal lobe in humans in early life. We present quantitative methods for measuring gyrification at autopsy using photographs of the gross brain and simple computer-based quantitative tools in a cohort of 28 brains ranging in age from 27 to 70 postconceptional weeks (end of infancy). We provide normative ranges for different indices of gyrification and identify a constellation of qualitative features that should also be considered in these analyses. The ratio of the temporal area to the whole brain area increased dramatically in the second half of gestation, but then decelerated after birth before increasing linearly around 50 postconceptional weeks. Tertiary gyrification continued beyond birth in a linear process through infancy with considerable variation in patterns. Analysis of 2 brains with gyral disorders of the lateral temporal lobe demonstrated proof-of-principle that the proposed methods are of diagnostic value. These guidelines are proposed for assessments of temporal lobe pathology in pediatric brains in early life.
[Mh] Termos MeSH primário: Lobo Temporal/anatomia & histologia
Lobo Temporal/crescimento & desenvolvimento
[Mh] Termos MeSH secundário: Autopsia
Encéfalo/anormalidades
Encéfalo/anatomia & histologia
Encéfalo/crescimento & desenvolvimento
Bases de Dados Factuais
Feminino
Seres Humanos
Processamento de Imagem Assistida por Computador
Lactente
Recém-Nascido
Imagem por Ressonância Magnética
Masculino
Malformações do Desenvolvimento Cortical/patologia
Gravidez
Valores de Referência
Lobo Temporal/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1093/jnen/nlx026


  10 / 1073 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28424266
[Au] Autor:Kishore A; Hall RA
[Ad] Endereço:From the Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia 30322.
[Ti] Título:Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling.
[So] Source:J Biol Chem;292(23):9711-9720, 2017 Jun 09.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations to the adhesion G protein-coupled receptor ADGRG1 (G1; also known as GPR56) underlie the neurological disorder bilateral frontoparietal polymicrogyria. Disease-associated mutations in G1 studied to date are believed to induce complete loss of receptor function through disruption of either receptor trafficking or signaling activity. Given that N-terminal truncation of G1 and other adhesion G protein-coupled receptors has been shown to significantly increase the receptors' constitutive signaling, we examined two different bilateral frontoparietal polymicrogyria-inducing extracellular loop mutations (R565W and L640R) in the context of both full-length and N-terminally truncated (ΔNT) G1. Interestingly, we found that these mutations reduced surface expression of full-length G1 but not G1-ΔNT in HEK-293 cells. Moreover, the mutations ablated receptor-mediated activation of serum response factor luciferase, a classic measure of Gα -mediated signaling, but had no effect on G1-mediated signaling to nuclear factor of activated T cells (NFAT) luciferase. Given these differential signaling results, we sought to further elucidate the pathway by which G1 can activate NFAT luciferase. We found no evidence that ΔNT activation of NFAT is dependent on Gα -mediated or ß-arrestin-mediated signaling but rather involves liberation of Gßγ subunits and activation of calcium channels. These findings reveal that disease-associated mutations to the extracellular loops of G1 differentially alter receptor trafficking, depending on the presence of the N terminus, and differentially alter signaling to distinct downstream pathways.
[Mh] Termos MeSH primário: Malformações do Desenvolvimento Cortical/metabolismo
Mutação de Sentido Incorreto
Receptores Acoplados a Proteínas-G/metabolismo
Transdução de Sinais
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Linhagem Celular
Subunidades alfa G12-G13 de Proteínas de Ligação ao GTP/genética
Subunidades alfa G12-G13 de Proteínas de Ligação ao GTP/metabolismo
Subunidades beta da Proteína de Ligação ao GTP/genética
Subunidades beta da Proteína de Ligação ao GTP/metabolismo
Subunidades gama da Proteína de Ligação ao GTP/genética
Subunidades gama da Proteína de Ligação ao GTP/metabolismo
Seres Humanos
Malformações do Desenvolvimento Cortical/genética
Malformações do Desenvolvimento Cortical/patologia
Estrutura Secundária de Proteína
Transporte Proteico/genética
Receptores Acoplados a Proteínas-G/genética
beta-Arrestina 1/genética
beta-Arrestina 1/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ARRB1 protein, human); 0 (GPR56 protein, human); 0 (GTP-Binding Protein beta Subunits); 0 (GTP-Binding Protein gamma Subunits); 0 (Receptors, G-Protein-Coupled); 0 (beta-Arrestin 1); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, G12-G13)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.780551



página 1 de 108 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