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Pesquisa : F03.625.164.113.500 [Categoria DeCS]
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  1 / 18156 MEDLINE  
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[PMID]:28468253
[Au] Autor:De Jaco A; Mango D; De Angelis F; Favaloro FL; Andolina D; Nisticò R; Fiori E; Colamartino M; Pascucci T
[Ad] Endereço:Department of Biology and Biotechnologies "Charles Darwin", Sapienza University of Rome, 00185 Rome, Italy. antonella.dejaco@uniroma1.it.
[Ti] Título:Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism.
[So] Source:Int J Mol Sci;18(5), 2017 04 29.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia and variable neurological and cognitive impairments. Among the potential pathophysiological mechanisms implicated in autism spectrum disorders is the excitation/inhibition (E/I) imbalance which might result from alterations in excitatory/inhibitory synapse development, synaptic transmission and plasticity, downstream signalling pathways, and intrinsic neuronal excitability. Here, we investigated functional and molecular alterations in the prefrontal cortex (pFC) of BTBR-Pah (ENU2) mice, the animal model of PKU. Our data show higher frequency of inhibitory transmissions and significant reduced frequency of excitatory transmissions in the PKU-affected mice in comparison to wild type. Moreover, in the pFC of ENU2 mice, we reported higher levels of the post-synaptic cell-adhesion proteins neuroligin1 and 2. Altogether, our data point toward an imbalance in the E/I neurotransmission favouring inhibition in the pFC of ENU2 mice, along with alterations of the molecular components involved in the organization of cortical synapse. In addition to being the first evidence of E/I imbalance within cortical areas of a mouse model of PKU, our study provides further evidence of E/I imbalance in animal models of pathology associated with autism spectrum disorders.
[Mh] Termos MeSH primário: Transtorno Autístico/fisiopatologia
Fenilcetonúrias/fisiopatologia
Córtex Pré-Frontal/fisiopatologia
[Mh] Termos MeSH secundário: Animais
Transtorno Autístico/complicações
Modelos Animais de Doenças
Masculino
Camundongos
Plasticidade Neuronal
Fenilcetonúrias/complicações
Sinapses/patologia
Transmissão Sináptica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE


  2 / 18156 MEDLINE  
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[PMID]:27774713
[Au] Autor:Martinez-Murcia FJ; Lai MC; Górriz JM; Ramírez J; Young AM; Deoni SC; Ecker C; Lombardo MV; Baron-Cohen S; Murphy DG; Bullmore ET; Suckling J; MRC AIMS Consortium,
[Ad] Endereço:Department of Signal Theory Networking and Communications, C/Periodista Daniel Saucedo Aranda S/N, E-18071, University of Granada, Granada, Spain.
[Ti] Título:On the brain structure heterogeneity of autism: Parsing out acquisition site effects with significance-weighted principal component analysis.
[So] Source:Hum Brain Mapp;38(3):1208-1223, 2017 03.
[Is] ISSN:1097-0193
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neuroimaging studies have reported structural and physiological differences that could help understand the causes and development of Autism Spectrum Disorder (ASD). Many of them rely on multisite designs, with the recruitment of larger samples increasing statistical power. However, recent large-scale studies have put some findings into question, considering the results to be strongly dependent on the database used, and demonstrating the substantial heterogeneity within this clinically defined category. One major source of variance may be the acquisition of the data in multiple centres. In this work we analysed the differences found in the multisite, multi-modal neuroimaging database from the UK Medical Research Council Autism Imaging Multicentre Study (MRC AIMS) in terms of both diagnosis and acquisition sites. Since the dissimilarities between sites were higher than between diagnostic groups, we developed a technique called Significance Weighted Principal Component Analysis (SWPCA) to reduce the undesired intensity variance due to acquisition site and to increase the statistical power in detecting group differences. After eliminating site-related variance, statistically significant group differences were found, including Broca's area and the temporo-parietal junction. However, discriminative power was not sufficient to classify diagnostic groups, yielding accuracies results close to random. Our work supports recent claims that ASD is a highly heterogeneous condition that is difficult to globally characterize by neuroimaging, and therefore different (and more homogenous) subgroups should be defined to obtain a deeper understanding of ASD. Hum Brain Mapp 38:1208-1223, 2017. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Transtorno Autístico/patologia
Mapeamento Encefálico
Encéfalo/patologia
Análise de Componente Principal
[Mh] Termos MeSH secundário: Adolescente
Adulto
Transtorno Autístico/diagnóstico por imagem
Transtorno Autístico/genética
Encéfalo/diagnóstico por imagem
Feminino
Seres Humanos
Processamento de Imagem Assistida por Computador
Imagem por Ressonância Magnética
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180217
[Lr] Data última revisão:
180217
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161101
[St] Status:MEDLINE
[do] DOI:10.1002/hbm.23449


  3 / 18156 MEDLINE  
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[PMID]:28470827
[Au] Autor:Nuntamool N; Ngamsamut N; Vanwong N; Puangpetch A; Chamnanphon M; Hongkaew Y; Limsila P; Suthisisang C; Wilffert B; Sukasem C
[Ad] Endereço:Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
[Ti] Título:Pharmacogenomics and Efficacy of Risperidone Long-Term Treatment in Thai Autistic Children and Adolescents.
[So] Source:Basic Clin Pharmacol Toxicol;121(4):316-324, 2017 Oct.
[Is] ISSN:1742-7843
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The purpose of this study was to evaluate the association of pharmacogenomic factors and clinical outcome in autistic children and adolescents who were treated with risperidone for long periods. Eighty-two autistic subjects diagnosed with DSM-IV and who were treated with risperidone for more than 1 year were recruited. Pharmacogenomics and clinical outcome (CGI-I, aggressive, overactivity and repetitive score) were evaluated. Almost all patients showed stable symptoms on aggressive behaviour (89.02%), overactivity (71.95%), repetitive (70.89%) behaviour and all clinical symptoms (81.71%). Only 4.48% of patients showed minimally worse CGI-I score. Patients in the non-stable symptom group had DRD2 Taq1A non-wild-type (TT and CT) frequencies higher than the clinically stable group (p = 0.04), whereas other gene polymorphisms showed no significant association. Haplotype ACCTCAT (rs6311, rs1045642, rs1128503, rs1800497, rs4436578, rs1799978, rs6280) showed a significant association with non-stable clinical outcome (χ  = 6.642, p = 0.010). Risperidone levels showed no association with any clinical outcome. On the other hand, risperidone dose, 9-OH risperidone levels and prolactin levels were significantly higher in the non-stable compared to the stable symptom group (p = 0.013, p = 0.044, p = 0.030). Increased appetite was the most common adverse drug reaction and associated with higher body-weight, whereas it was not significantly associated with genetic variations and non-genetic information. In conclusion, risperidone showed efficacy to control autism, especially aggressive symptoms in long-term treatment. However, Taq1A T - carrier of dopamine 2 receptor gene - is associated with non-stable response in risperidone-treated patients. This study supports pharmacogenomics testing for personalized therapy with risperidone in autistic children and adolescents.
[Mh] Termos MeSH primário: Comportamento do Adolescente/efeitos dos fármacos
Transtorno Autístico/tratamento farmacológico
Comportamento Infantil/efeitos dos fármacos
Antagonistas de Dopamina/administração & dosagem
Receptores de Dopamina D2/efeitos dos fármacos
Receptores de Dopamina D2/genética
Risperidona/administração & dosagem
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Agressão/efeitos dos fármacos
Transtorno Autístico/diagnóstico
Transtorno Autístico/genética
Transtorno Autístico/psicologia
Distribuição de Qui-Quadrado
Criança
Estudos Transversais
Manual Diagnóstico e Estatístico de Transtornos Mentais
Antagonistas de Dopamina/efeitos adversos
Esquema de Medicação
Feminino
Frequência do Gene
Haplótipos
Heterozigoto
Homozigoto
Seres Humanos
Masculino
Farmacogenética
Variantes Farmacogenômicos
Estudos Prospectivos
Receptores de Dopamina D2/metabolismo
Fatores de Risco
Risperidona/efeitos adversos
Tailândia
Fatores de Tempo
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DRD2 protein, human); 0 (Dopamine Antagonists); 0 (Receptors, Dopamine D2); L6UH7ZF8HC (Risperidone)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180130
[Lr] Data última revisão:
180130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1111/bcpt.12803


  4 / 18156 MEDLINE  
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[PMID]:27779093
[Au] Autor:Harrington AJ; Raissi A; Rajkovich K; Berto S; Kumar J; Molinaro G; Raduazzo J; Guo Y; Loerwald K; Konopka G; Huber KM; Cowan CW
[Ad] Endereço:Department of Neurosciences, Medical University of South Carolina, Charleston, United States.
[Ti] Título:MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.
[So] Source:Elife;5, 2016 10 25.
[Is] ISSN:2050-084X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Numerous genetic variants associated with are linked to autism, intellectual disability (ID) and schizophrenia (SCZ) - a heterogeneous collection of neurodevelopmental disorders with unclear pathophysiology. MEF2C is highly expressed in developing cortical excitatory neurons, but its role in their development remains unclear. We show here that conditional embryonic deletion of in cortical and hippocampal excitatory neurons (Emx1-lineage) produces a dramatic reduction in cortical network activity in vivo, due in part to a dramatic increase in inhibitory and a decrease in excitatory synaptic transmission. In addition, we find that MEF2C regulates E/I synapse density predominantly as a cell-autonomous, transcriptional repressor. Analysis of differential gene expression in mutant cortex identified a significant overlap with numerous synapse- and autism-linked genes, and the mutant mice displayed numerous behaviors reminiscent of autism, ID and SCZ, suggesting that perturbing MEF2C function in neocortex can produce autistic- and ID-like behaviors in mice.
[Mh] Termos MeSH primário: Comportamento Animal
Transtornos do Neurodesenvolvimento/fisiopatologia
Sinapses/fisiologia
[Mh] Termos MeSH secundário: Animais
Transtorno Autístico/fisiopatologia
Córtex Cerebral/embriologia
Técnicas de Silenciamento de Genes
Hipocampo/embriologia
Deficiência Intelectual/fisiopatologia
Fatores de Transcrição MEF2/metabolismo
Camundongos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (MEF2 Transcription Factors); 0 (Mef2c protein, mouse)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171224
[Lr] Data última revisão:
171224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161104
[St] Status:MEDLINE


  5 / 18156 MEDLINE  
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[PMID]:28464876
[Au] Autor:Lan A; Kalimian M; Amram B; Kofman O
[Ad] Endereço:Department of Psychology, Ben-Gurion University of the Negev, P.O.B. 653, Beer-Sheva, 84105, Israel.
[Ti] Título:Prenatal chlorpyrifos leads to autism-like deficits in C57Bl6/J mice.
[So] Source:Environ Health;16(1):43, 2017 05 02.
[Is] ISSN:1476-069X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Children are at daily risk for exposure to organophosphate insecticides, of which the most common is chlorpyrifos (CPF). Exposure of pregnant women to CPF was linked to decreased birth weight, abnormal reflexes, reduction in IQ, as well as increased maternal reports of signs of pervasive developmental disorder. The aim of current study was to examine the long term effects of prenatal exposure to CPF in C57BL/6 J (B6) mice with specific focus on social and repetitive behavior. METHODS: B6 female mice were treated with vehicle, 2.5 mg/kg CPF or 5 mg/kg of CPF on gestational days 12-15 by oral gavage. On postnatal days (PND's) 6-12 early development and neuromotor ability were assessed by measuring 3 neonatal reflexes in the offspring. In adulthood, PND 90, social behavior was investigated using the social preference, social novelty and social conditioned place preference tasks. Object recognition and restricted interest, measured by the repetitive novel object contact task (RNOC), were also assessed on PN D 90. In order to rule out the possibility that CPF administration induced alterations in maternal care, the dams' behavior was evaluated via the maternal retrieval task. RESULTS: CPF treatment resulted in delayed development of neonatal reflexes on PND's 6-12. On PND 90, mice treated prenatally with the 5.0 mg/kg dose exhibited reduced preference towards an unfamiliar conspecific in the social preference test and reduced social conditioned place preference. In the RNOC task, mice exposed prenatally to 2.5 mg/kg dose of CPF showed enhanced restricted interest. CPF administration did not impair dams' behavior and did not cause memory or recognition deficit as was observed in the object recognition task. CONCLUSIONS: Our data indicate that gestational exposure to CPF has long-term deleterious effects on social behavior and limits exploration of novel objects.
[Mh] Termos MeSH primário: Transtorno Autístico/etiologia
Clorpirifos/toxicidade
Inseticidas/toxicidade
Efeitos Tardios da Exposição Pré-Natal
[Mh] Termos MeSH secundário: Animais
Comportamento Animal/efeitos dos fármacos
Condicionamento (Psicologia)/efeitos dos fármacos
Feminino
Masculino
Comportamento Materno/efeitos dos fármacos
Camundongos
Camundongos Endogâmicos C57BL
Gravidez
Reflexo/efeitos dos fármacos
Comportamento Social
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Insecticides); JCS58I644W (Chlorpyrifos)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171220
[Lr] Data última revisão:
171220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s12940-017-0251-3


  6 / 18156 MEDLINE  
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[PMID]:28450595
[Au] Autor:Wadman M
[Ti] Título:Vaccines on trial.
[So] Source:Science;356(6336):370-373, 2017 Apr 28.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Vacinação/legislação & jurisprudência
Vacinas/efeitos adversos
[Mh] Termos MeSH secundário: Transtorno Autístico/etiologia
Seres Humanos
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Vaccines)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171219
[Lr] Data última revisão:
171219
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1126/science.356.6336.370


  7 / 18156 MEDLINE  
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[PMID]:28450594
[Au] Autor:Wessel L
[Ti] Título:Vaccine myths.
[So] Source:Science;356(6336):368-372, 2017 Apr 28.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Transtorno Autístico/etiologia
Vacinação/efeitos adversos
Vacinas/efeitos adversos
[Mh] Termos MeSH secundário: Seres Humanos
Mercúrio/toxicidade
Neurotoxinas/toxicidade
Conservantes Farmacêuticos/efeitos adversos
Conservantes Farmacêuticos/análise
Timerosal/efeitos adversos
Timerosal/análise
Vacinação/psicologia
Vacinas/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neurotoxins); 0 (Preservatives, Pharmaceutical); 0 (Vaccines); 2225PI3MOV (Thimerosal); FXS1BY2PGL (Mercury)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171219
[Lr] Data última revisão:
171219
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1126/science.356.6336.368


  8 / 18156 MEDLINE  
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[PMID]:28450593
[Au] Autor:Kupferschmidt K
[Ti] Título:The science of persuasion.
[So] Source:Science;356(6336):366-369, 2017 Apr 28.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Movimento contra Vacinação/psicologia
Sarampo/prevenção & controle
Pais/educação
Recusa de Vacinação/psicologia
[Mh] Termos MeSH secundário: Transtorno Autístico/etiologia
Criança
Pré-Escolar
Seres Humanos
Pais/psicologia
Comunicação Persuasiva
Vacinação/psicologia
Vacinas/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Vaccines)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171219
[Lr] Data última revisão:
171219
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1126/science.356.6336.366


  9 / 18156 MEDLINE  
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[PMID]:29173719
[Au] Autor:Potvin MC; Prelock PA; Savard L
[Ad] Endereço:Philadelphia University, 4201 Henry Avenue, Philadelphia, PA 19144-5497, USA.
[Ti] Título:Supporting Children with Autism and Their Families: A Culturally Responsive Family-Driven Interprofessional Process.
[So] Source:Pediatr Clin North Am;65(1):47-57, 2018 Feb.
[Is] ISSN:1557-8240
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This article describes the Coaching in Context (CinC) process, a family-driven, culturally responsive structure that facilitates family identification and achievement of goals. CinC focuses on modification of the demands of an activity with guidance from a health care professional who coaches the family to increase their participation in everyday activities. An interprofessional team is key in this process. Working as a team and communicating effectively across professions supports the health professional who serves as the coach. Effective interprofessional team collaboration is possible; health professions share values for the delivery of the highest quality of care.
[Mh] Termos MeSH primário: Transtorno Autístico/terapia
Assistência à Saúde Culturalmente Competente/métodos
Relações Interprofissionais
Planejamento de Assistência ao Paciente
Equipe de Assistência ao Paciente
Relações Profissional-Família
[Mh] Termos MeSH secundário: Criança
Assistência à Saúde Culturalmente Competente/organização & administração
Metas
Seres Humanos
Pais
Planejamento de Assistência ao Paciente/organização & administração
Equipe de Assistência ao Paciente/organização & administração
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171129
[Lr] Data última revisão:
171129
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE


  10 / 18156 MEDLINE  
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[PMID]:29036188
[Au] Autor:Pisula E; Porebowicz-Dörsmann A
[Ad] Endereço:Faculty of Psychology, University of Warsaw, Warsaw, Poland.
[Ti] Título:Family functioning, parenting stress and quality of life in mothers and fathers of Polish children with high functioning autism or Asperger syndrome.
[So] Source:PLoS One;12(10):e0186536, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The aim of the study was to investigate the perception of the family functioning in parents of children with autism spectrum disorders (ASD) with normal-range intelligence and the relationships between family functioning, parenting stress and quality of life. Dyads of parents of children with ASD without intellectual disability and parents of typically developing children (controls) completed a set of self-report questionnaires. Parents of children with ASD reported lower functioning of the family as a whole and their own functioning as family members; they exhibited higher levels of parenting stress and lower quality of life. Mothers of children with ASD experienced more stress in personal domain than fathers. Relationships between family functioning, parenting stress and quality of life have been established. There were also moderate to strong correlations in mother-father dyads between their assessments of family functioning, parenting stress and QoL in social relationships and environmental domains.
[Mh] Termos MeSH primário: Síndrome de Asperger/psicologia
Transtorno Autístico/psicologia
Pai/psicologia
Mães/psicologia
Qualidade de Vida
Estresse Psicológico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Estudos de Casos e Controles
Criança
Feminino
Seres Humanos
Masculino
Polônia
Análise de Regressão
Autorrelato
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171017
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0186536



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