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[PMID]:28747166
[Au] Autor:Chan MMY; Barnicoat A; Mumtaz F; Aitchison M; Side L; Brittain H; Bates AWH; Gale DP
[Ad] Endereço:Centre for Nephrology, University College London, Royal Free Hospital, London, UK.
[Ti] Título:Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
[So] Source:BMC Med Genet;18(1):79, 2017 07 26.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). CASE PRESENTATION: Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. CONCLUSION: While the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/genética
Fumarato Hidratase/deficiência
Fumarato Hidratase/genética
Neoplasias Renais/genética
Erros Inatos do Metabolismo/genética
Hipotonia Muscular/genética
Transtornos Psicomotores/genética
[Mh] Termos MeSH secundário: Carcinoma de Células Renais/diagnóstico
Carcinoma de Células Renais/patologia
Detecção Precoce de Câncer
Feminino
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Lactente
Neoplasias Renais/complicações
Neoplasias Renais/diagnóstico
Neoplasias Renais/patologia
Erros Inatos do Metabolismo/complicações
Erros Inatos do Metabolismo/diagnóstico
Erros Inatos do Metabolismo/patologia
Hipotonia Muscular/complicações
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/patologia
Transtornos Psicomotores/complicações
Transtornos Psicomotores/diagnóstico
Transtornos Psicomotores/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171231
[Lr] Data última revisão:
171231
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0436-1


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[PMID]:28745663
[Au] Autor:Mironov MB; Bobylova MY; Nekrasova IV; Krasilschikova TM; Gunchenko MM; Sarzhina MN; Petrukhin AS; Burd SG; Batisheva TT
[Ad] Endereço:Training Institute of the Federal Medical and Biological Agency, Moscow, Russia; Center for pediatric psychoneurology, Moscow, Russia.
[Ti] Título:[Differential diagnosis of paroxysms of tonic muscle tension in children of early age with delay of psychomotor development and abnormal neurologic status].
[Ti] Título:Differentsial'naia diagnostika paroksizmov tonicheskogo napriazheniia myshts épilepticheskoi i neépilepticheskoi prirody u detei rannego vozrasta s zaderzhkoi psikhomotornogo razvitiia i ochagovymi nevrologicheskimi simptomami..
[So] Source:Zh Nevrol Psikhiatr Im S S Korsakova;117(6):4-9, 2017.
[Is] ISSN:1997-7298
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:AIM: To study neurologic status, results of video-EEG monitoring and magnetic resonance imaging in children under 3 years old with paroxysms of tonic muscle tension. MATERIAL AND METHODS: One hundred and forty-six infants and young children with motor disturbances and different variants of clinically similar epileptic seizures, hyperkinesis and stereotypes were examined. RESULTS AND CONCLUSION: Cerebral palsy (91%), genetic and chromosomal abnormalities (6%), brain malformations (2%) were identified. Neurological status was characterized by pseudobulbar syndrome (100% of cases), hemiparesis (1%), tetraparesis (81%), diffuse muscular hypotonia (18%), intellectual and speech development delay (76%), autistic behavior (16%). During the prolong video-EEG monitoring, paroxysmal tonic muscle tensions were recorded in all patients: epileptic seizures were observed in 113 patients (77.40%), non-epileptic paroxysms in 51 (34.93%). The combination of epileptic and non-epileptic paroxysms was observed in 18 patients (12.33%). In 4 patients (2.75%), it was not possible to determine the genesis of paroxysms even during the prolong video-EEG-monitoring because of myographic artefacts. Five clinical and electroencephalographic combinations of dystonic attacks, epileptic seizures and epileptiform activity were identified. These data allow improving the diagnosis of epilepsy and avoiding unnecessary treatment with antiepileptic drugs. Our study has shown a high diagnostic value of video-EEG monitoring with the inclusion of sleep in patients with paroxysmal conditions in infancy and early childhood.
[Mh] Termos MeSH primário: Tono Muscular
Transtornos Psicomotores/diagnóstico
Convulsões/diagnóstico
[Mh] Termos MeSH secundário: Anticonvulsivantes/uso terapêutico
Paralisia Cerebral/diagnóstico
Paralisia Cerebral/fisiopatologia
Pré-Escolar
Diagnóstico Diferencial
Eletroencefalografia
Feminino
Seres Humanos
Hipercinese/diagnóstico
Hipercinese/fisiopatologia
Lactente
Masculino
Transtornos Psicomotores/fisiopatologia
Convulsões/tratamento farmacológico
Convulsões/fisiopatologia
Sono
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.17116/jnevro2017117614-9


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[PMID]:29070031
[Au] Autor:Wessel K; Suleiman J; Khalaf TE; Kishore S; Rolfs A; El-Hattab AW
[Ad] Endereço:Centogene AG, Schillingallee, Rostock, Germany.
[Ti] Título:17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
[So] Source:BMC Med Genet;18(1):119, 2017 Oct 25.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23.2q23.3 located distal to the TBX2 and TBX4 region. CASE PRESENTATION: We report a 7.5-year-old boy with speech and language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, and behavior disturbances (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements). Chromosomal microarray revealed a 2-Mb duplication of chromosome 17q23.2q23.3. Both parents did not have the duplication indicating that this duplication is de novo in the child. CONCLUSIONS: The duplicated region encompasses 16 genes. It is possible that increased dosage of one or more genes in this region is responsible for the observed phenotype. The TANC2 gene is one of the genes in the duplicated region.It encodes a member of the TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing) family which includes TANC1 and TANC2. These proteins are highly expressed in brain and play major roles in synapsis regulation. Hence, it is suggestive that TANC2 is the likely candidate gene responsible for the observed phenotype as an increased TANC2 dosage can potentially alter synapsis, resulting in neuronal dysfunction and the neurobehavioral phenotype observed in this child with 17q23.2q23.3 duplication.
[Mh] Termos MeSH primário: Ataxia/genética
Duplicação Cromossômica
Cromossomos Humanos Par 17/química
Deficiências do Desenvolvimento/genética
Transtornos de Aprendizagem/genética
Transtornos Psicomotores/genética
Distúrbios da Fala/genética
[Mh] Termos MeSH secundário: Ataxia/diagnóstico
Ataxia/fisiopatologia
Criança
Deficiências do Desenvolvimento/diagnóstico
Deficiências do Desenvolvimento/fisiopatologia
Eletroencefalografia
Dosagem de Genes
Expressão Gênica
Seres Humanos
Transtornos de Aprendizagem/diagnóstico
Transtornos de Aprendizagem/fisiopatologia
Masculino
Fenótipo
Proteínas/genética
Transtornos Psicomotores/diagnóstico
Transtornos Psicomotores/fisiopatologia
Convulsões/diagnóstico
Convulsões/genética
Convulsões/fisiopatologia
Comportamento Autodestrutivo/diagnóstico
Comportamento Autodestrutivo/genética
Comportamento Autodestrutivo/fisiopatologia
Distúrbios da Fala/diagnóstico
Distúrbios da Fala/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 0 (TANC2 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171027
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0479-3


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[PMID]:29021353
[Au] Autor:Uc EY; Rizzo M; O'Shea AMJ; Anderson SW; Dawson JD
[Ad] Endereço:From the Departments of Neurology (E.Y.U., M.R., S.W.A.) and Biostatistics (A.M.J.O., J.D.D.), University of Iowa; Neurology Service (E.Y.U.) and Comprehensive Access and Delivery Research & Evaluation (A.M.J.O.), Veterans Affairs Medical Center, Iowa City, IA; and Department of Neurology (M.R.)
[Ti] Título:Longitudinal decline of driving safety in Parkinson disease.
[So] Source:Neurology;89(19):1951-1958, 2017 Nov 07.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To longitudinally assess and predict on-road driving safety in Parkinson disease (PD). METHODS: Drivers with PD (n = 67) and healthy controls (n = 110) drove a standardized route in an instrumented vehicle and were invited to return 2 years later. A professional driving expert reviewed drive data and videos to score safety errors. RESULTS: At baseline, drivers with PD performed worse on visual, cognitive, and motor tests, and committed more road safety errors compared to controls (median PD 38.0 vs controls 30.5; < 0.001). A smaller proportion of drivers with PD returned for repeat testing (42.8% vs 62.7%; < 0.01). At baseline, returnees with PD made fewer errors than nonreturnees with PD (median 34.5 vs 40.0; < 0.05) and performed similar to control returnees (median 33). Baseline global cognitive performance of returnees with PD was better than that of nonreturnees with PD, but worse than for control returnees ( < 0.05). After 2 years, returnees with PD showed greater cognitive decline and larger increase in error counts than control returnees (median increase PD 13.5 vs controls 3.0; < 0.001). Driving error count increase in the returnees with PD was predicted by greater error count and worse visual acuity at baseline, and by greater interval worsening of global cognition, Unified Parkinson's Disease Rating Scale activities of daily living score, executive functions, visual processing speed, and attention. CONCLUSIONS: Despite drop out of the more impaired drivers within the PD cohort, returning drivers with PD, who drove like controls without PD at baseline, showed many more driving safety errors than controls after 2 years. Driving decline in PD was predicted by baseline driving performance and deterioration of cognitive, visual, and functional abnormalities on follow-up.
[Mh] Termos MeSH primário: Acidentes de Trânsito/estatística & dados numéricos
Transtorno do Deficit de Atenção com Hiperatividade/etiologia
Condução de Veículo
Doença de Parkinson/complicações
Transtornos Psicomotores/etiologia
[Mh] Termos MeSH secundário: Atividades Cotidianas
Idoso
Transtornos Cognitivos/etiologia
Depressão/etiologia
Feminino
Seres Humanos
Vida Independente
Estudos Longitudinais
Masculino
Meia-Idade
Testes Neuropsicológicos
Doença de Parkinson/psicologia
Escalas de Graduação Psiquiátrica
Índice de Gravidade de Doença
Percepção Visual/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171115
[Lr] Data última revisão:
171115
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171013
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004629


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[PMID]:28982485
[Au] Autor:Frith E; Addoh O; Mann JR; Windham BG; Loprinzi PD
[Ad] Endereço:Physical Activity Epidemiology Laboratory, Exercise Psychology Laboratory, Department of Health, Exercise Science and Recreation Management, The University of Mississippi, University, Jackson.
[Ti] Título:Individual and Combined Associations of Cognitive and Mobility Limitations on Mortality Risk in Older Adults.
[So] Source:Mayo Clin Proc;92(10):1494-1501, 2017 Oct.
[Is] ISSN:1942-5546
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the potential independent and combined associations of cognitive and mobility limitations on risk of all-cause mortality in a representative sample of the US older adult population who, at baseline, were free of cardiovascular and cerebrovascular disease. PATIENTS AND METHODS: Data from the 1999 to 2002 National Health and Nutrition Examination Survey were used to identify 1852 adults (age, 60-85 years) with and without mobility and/or cognitive limitations. Hazard ratios (HRs) for mortality risk were calculated for 4 mutually exclusive groups: no limitation (group 1 as reference), mobility limitation only (group 2), cognitive limitation only (group 3), both cognitive and mobility limitations (group 4). RESULTS: Compared with group 1, the adjusted HRs (95% CI) for groups 2, 3, and 4 were 1.72 (1.24-2.38), 2.00 (1.37-2.91), and 2.18 (1.57-3.02), respectively. The mortality risk when comparing group 4 (HR, 2.18) with group 3 (HR, 2.00), however, was not statistically significant (P=.65). Similarly, the mortality risk when comparing group 4 (HR, 2.18) with group 2 (HR, 1.72) was not statistically significant (P=.16). CONCLUSION: Although the highest mortality risk occurred in those with both limitations (group 4), this point estimate was not statistically significantly different when compared with those with cognitive or mobility limitations alone.
[Mh] Termos MeSH primário: Envelhecimento
Mortalidade
Transtornos Psicomotores
Desempenho Psicomotor/fisiologia
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Envelhecimento/fisiologia
Envelhecimento/psicologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Inquéritos Nutricionais
Transtornos Psicomotores/diagnóstico
Transtornos Psicomotores/mortalidade
Transtornos Psicomotores/fisiopatologia
Transtornos Psicomotores/psicologia
Medição de Risco
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171007
[St] Status:MEDLINE


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[PMID]:28931644
[Au] Autor:Hamilton EMC; Bertini E; Kalaydjieva L; Morar B; Dojcáková D; Liu J; Vanderver A; Curiel J; Persoon CM; Diodato D; Pinelli L; van der Meij NL; Plecko B; Blaser S; Wolf NI; Waisfisz Q; Abbink TEM; van der Knaap MS; Recessive H-ABC Research Group
[Ad] Endereço:From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU Univer
[Ti] Título: founder mutation in the Roma population causes recessive variant of H-ABC.
[So] Source:Neurology;89(17):1821-1828, 2017 Oct 24.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression. RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy. The majority of patients had a known Roma ethnic background. Single nucleotide polymorphism array analysis in 5 patients identified one large overlapping homozygous region on chromosome 13. WES in 2 patients revealed a homozygous deletion in the promoter region of . Sanger sequencing confirmed homozygosity for this variant in all 16 patients. All patients shared a common haplotype, indicative of a founder effect. Screening of 1,000 controls from different European Roma panels demonstrated an overall carrier rate of the mutation of 3%-25%. Transfection assays showed that the deletion significantly reduced expression in specific CNS cell lines. CONCLUSIONS: encodes ubiquitin-fold modifier 1 (UFM1), a member of the ubiquitin-like family involved in posttranslational modification of proteins. Its exact biological role is unclear. This study associates a gene defect with a disease and sheds new light on possible UFM1 functional networks.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Acídicos/deficiência
Antiporters/deficiência
Gânglios da Base/patologia
Cerebelo/patologia
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética
Doenças Mitocondriais/genética
Polimorfismo de Nucleotídeo Único/genética
Proteínas/genética
Transtornos Psicomotores/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sistemas de Transporte de Aminoácidos Acídicos/genética
Antiporters/genética
Atrofia/etiologia
Gânglios da Base/diagnóstico por imagem
Linhagem Celular Tumoral/patologia
Cerebelo/diagnóstico por imagem
Criança
Pré-Escolar
Análise Mutacional de DNA
Saúde da Família
Feminino
Células HeLa
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/complicações
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico por imagem
Seres Humanos
Processamento de Imagem Assistida por Computador
Itália
Imagem por Ressonância Magnética
Masculino
Doenças Mitocondriais/complicações
Doenças Mitocondriais/diagnóstico por imagem
Transtornos Psicomotores/complicações
Transtornos Psicomotores/diagnóstico por imagem
Transfecção
Tubulina (Proteína)/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Acidic); 0 (Antiporters); 0 (Proteins); 0 (TUBB4A protein, human); 0 (Tubulin); 0 (UFM1 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171105
[Lr] Data última revisão:
171105
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170922
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004578


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[PMID]:28858620
[Au] Autor:Kim J; Kim Y; Nakajima R; Shin A; Jeong M; Park AH; Jeong Y; Jo S; Yang S; Park H; Cho SH; Cho KH; Shim I; Chung JH; Paik SB; Augustine GJ; Kim D
[Ad] Endereço:Department of Biological Sciences, KAIST, Daejeon 34141, Republic of Korea; Center for Neuroscience, KIST, Seoul 02792, Republic of Korea.
[Ti] Título:Inhibitory Basal Ganglia Inputs Induce Excitatory Motor Signals in the Thalamus.
[So] Source:Neuron;95(5):1181-1196.e8, 2017 Aug 30.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Basal ganglia (BG) circuits orchestrate complex motor behaviors predominantly via inhibitory synaptic outputs. Although these inhibitory BG outputs are known to reduce the excitability of postsynaptic target neurons, precisely how this change impairs motor performance remains poorly understood. Here, we show that optogenetic photostimulation of inhibitory BG inputs from the globus pallidus induces a surge of action potentials in the ventrolateral thalamic (VL) neurons and muscle contractions during the post-inhibitory period. Reduction of the neuronal population with this post-inhibitory rebound firing by knockout of T-type Ca channels or photoinhibition abolishes multiple motor responses induced by the inhibitory BG input. In a low dopamine state, the number of VL neurons showing post-inhibitory firing increases, while reducing the number of active VL neurons via photoinhibition of BG input, effectively prevents Parkinson disease (PD)-like motor symptoms. Thus, BG inhibitory input generates excitatory motor signals in the thalamus and, in excess, promotes PD-like motor abnormalities. VIDEO ABSTRACT.
[Mh] Termos MeSH primário: Globo Pálido/fisiologia
Neurônios Motores/fisiologia
Inibição Neural/fisiologia
Tálamo/fisiologia
[Mh] Termos MeSH secundário: Potenciais de Ação/fisiologia
Oxirredutases do Álcool/genética
Animais
Canais de Cálcio Tipo T/genética
Canais de Cálcio Tipo T/fisiologia
Dopamina/metabolismo
Distonia/dietoterapia
Distonia/tratamento farmacológico
Distonia/fisiopatologia
Feminino
Globo Pálido/citologia
Globo Pálido/metabolismo
Levodopa/uso terapêutico
Masculino
Erros Inatos do Metabolismo/dietoterapia
Erros Inatos do Metabolismo/tratamento farmacológico
Erros Inatos do Metabolismo/fisiopatologia
Camundongos
Camundongos Knockout
Contração Muscular/fisiologia
Vias Neurais/fisiologia
Neurônios/fisiologia
Transtornos Psicomotores/dietoterapia
Transtornos Psicomotores/tratamento farmacológico
Transtornos Psicomotores/fisiopatologia
Tálamo/citologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Nm] Nome de substância:
0 (Calcium Channels, T-Type); 46627O600J (Levodopa); EC 1.1.- (Alcohol Oxidoreductases); EC 1.1.1.153 (sepiapterin reductase); VTD58H1Z2X (Dopamine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE


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[PMID]:28575651
[Au] Autor:Chelban V; Patel N; Vandrovcova J; Zanetti MN; Lynch DS; Ryten M; Botía JA; Bello O; Tribollet E; Efthymiou S; Davagnanam I; Bashiri FA; Wood NW; Rothman JE; Alkuraya FS; Houlden H; SYNAPSE Study Group
[Ad] Endereço:Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Toma Ciorba 1, 2052 Chisinau, Republic of Moldova. Electronic address: v.chelban@ucl.ac.uk.
[Ti] Título:Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
[So] Source:Am J Hum Genet;100(6):969-977, 2017 Jun 01.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autosomal dominant or autosomal recessive. Hypomyelinating features on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and severe and life limiting in children. We report seven individuals with an early-onset spastic-ataxia phenotype. The individuals come from three families of different ethnic backgrounds. Affected members of two families had childhood onset disease with very slow progression. They are still alive in their 30s and 40s and show predominant ataxia and cerebellar atrophy features on imaging. Affected members of the third family had a similar but earlier-onset presentation associated with brain hypomyelination. Using a combination of homozygozity mapping and exome sequencing, we mapped this phenotype to deleterious nonsense or homeobox domain missense mutations in NKX6-2. NKX6-2 encodes a transcriptional repressor with early high general and late focused CNS expression. Deficiency of its mouse ortholog results in widespread hypomyelination in the brain and optic nerve, as well as in poor motor coordination in a pattern consistent with the observed human phenotype. In-silico analysis of human brain expression and network data provides evidence that NKX6-2 is involved in oligodendrocyte maturation and might act within the same pathways of genes already associated with central hypomyelination. Our results support a non-redundant developmental role of NKX6-2 in humans and imply that NKX6-2 mutations should be considered in the differential diagnosis of spastic ataxia and hypomyelination.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Acídicos/deficiência
Antiporters/deficiência
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/complicações
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética
Proteínas de Homeodomínio/genética
Deficiência Intelectual/complicações
Deficiência Intelectual/genética
Doenças Mitocondriais/complicações
Doenças Mitocondriais/genética
Espasticidade Muscular/complicações
Espasticidade Muscular/genética
Mutação/genética
Atrofia Óptica/complicações
Atrofia Óptica/genética
Transtornos Psicomotores/complicações
Transtornos Psicomotores/genética
Ataxias Espinocerebelares/complicações
Ataxias Espinocerebelares/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Aminoácidos
Sistemas de Transporte de Aminoácidos Acídicos/genética
Antiporters/genética
Encéfalo/embriologia
Encéfalo/metabolismo
Criança
Feminino
Redes Reguladoras de Genes
Proteínas de Homeodomínio/química
Seres Humanos
Lactente
Masculino
Linhagem
Fenótipo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Acidic); 0 (Antiporters); 0 (Homeodomain Proteins); 0 (NKX6-2 protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170603
[St] Status:MEDLINE


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[PMID]:28521790
[Au] Autor:Pajunen T; Vuori E; Vincenzi FF; Lillsunde P; Smith G; Lunetta P
[Ad] Endereço:Department of Biomedicine, Pathology and Forensic Medicine, University of Turku, Turku, Finland. t09tpaju@utu.fi.
[Ti] Título:Unintentional drowning: Role of medicinal drugs and alcohol.
[So] Source:BMC Public Health;17(1):388, 2017 May 19.
[Is] ISSN:1471-2458
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Alcohol is a well-known risk factor in unintentional drownings. Whereas psychotropic drugs, like alcohol, may cause psychomotor impairment and affect cognition, no detailed studies have focused on their association with drowning. Finland provides extensive post-mortem toxicological data for studies on drowning because of its high medico-legal autopsy rates. METHODS: Drowning cases, 2000 through 2009, for which post-mortem toxicological analysis was performed, came from the database of the Toxicological Laboratory, Department of Forensic Medicine, University of Helsinki, using the ICD-10 nature-of-injury code T75.1. The data were narrowed to unintentional drowning, using the ICD-10 external-injury codes V90, V92, and W65-74. Each drowning case had its blood alcohol concentration (BAC) and concentrations of other drugs recorded. Evaluation of the contribution of psychotropic drugs to drowning was based on their blood concentration by means of a 6-grade scale. RESULTS: Among victims ≥15 years old, unintentional drownings numbered 1697, of which, 303 (17.9%) were boating-related and 1394 (82.1%) non-boating-related. Among these, 65.0% of boating-related and 61.8% of non-boating-related victims were alcohol-positive (=BAC ≥ 50 mg/dL). The male-to-female ratio in alcohol-positive drownings was 7.3. At least one psychotropic drug appeared in 453 (26.7%) drowning cases, with some victims' bodies showing up to 7 different drugs. Overall 70 different psychotropic drugs were detectable, with 134 (7.9%) cases both alcohol-negative and psychotropic-drug-positive, of these, 59 (3.5%) were graded 4 to 6, indicating a possible to very probable contribution to drowning. Our findings suggest that psychotropic drugs may play a significant role in drowning, in up to 14.5% of cases, independently or in association with alcohol. CONCLUSIONS: Psychotropic drugs alone or in association with alcohol may be an overlooked risk factor in drowning, due to their effects on psychomotor function and cognition. Future studies should also address other mechanisms-for instance drug-induced long-QT syndrome-by which drugs may contribute to drowning.
[Mh] Termos MeSH primário: Consumo de Bebidas Alcoólicas/efeitos adversos
Afogamento/etiologia
Etanol/sangue
Transtornos Psicomotores/etiologia
Desempenho Psicomotor/efeitos dos fármacos
Psicotrópicos/efeitos adversos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Idoso
Idoso de 80 Anos ou mais
Autopsia
Feminino
Finlândia
Medicina Legal
Seres Humanos
Masculino
Meia-Idade
Fatores de Risco
Fatores Sexuais
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Psychotropic Drugs); 3K9958V90M (Ethanol)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE
[do] DOI:10.1186/s12889-017-4306-8


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[PMID]:28429368
[Au] Autor:Juaristi I; García-Martín ML; Rodrigues TB; Satrústegui J; Llorente-Folch I; Pardo B
[Ad] Endereço:Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, Madrid, Spain.
[Ti] Título:ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.
[So] Source:J Neurochem;142(1):132-139, 2017 Jul.
[Is] ISSN:1471-4159
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:ARALAR/AGC1 (aspartate-glutamate mitochondrial carrier 1) is an important component of the NADH malate-aspartate shuttle (MAS). AGC1-deficiency is a rare disease causing global cerebral hypomyelination, developmental arrest, hypotonia, and epilepsy (OMIM ID #612949); the aralar-KO mouse recapitulates the major findings in humans. This study was aimed at understanding the impact of ARALAR-deficiency in brain lactate levels as a biomarker. We report that lactate was equally abundant in wild-type and aralar-KO mouse brain in vivo at postnatal day 17. We find that lactate production upon mitochondrial blockade depends on up-regulation of lactate formation in astrocytes rather than in neurons. However, ARALAR-deficiency decreased cell respiration in neurons, not astrocytes, which maintained unchanged respiration and lactate production. As the primary site of ARALAR-deficiency is neuronal, this explains the lack of accumulation of brain lactate in ARALAR-deficiency in humans and mice. On the other hand, we find that the cytosolic and mitochondrial components of the glycerol phosphate shuttle are present in astrocytes with similar activities. This suggests that glycerol phosphate shuttle is the main NADH shuttle in astrocytes and explains the absence of effects of ARALAR-deficiency in these cells.
[Mh] Termos MeSH primário: Agrecanas/genética
Agrecanas/metabolismo
Sistemas de Transporte de Aminoácidos Acídicos/deficiência
Antiporters/deficiência
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética
Ácido Láctico/metabolismo
Mitocôndrias/genética
Mitocôndrias/metabolismo
Doenças Mitocondriais/genética
Doenças do Sistema Nervoso/genética
Doenças do Sistema Nervoso/metabolismo
Neurônios/metabolismo
Transtornos Psicomotores/genética
[Mh] Termos MeSH secundário: Sistemas de Transporte de Aminoácidos Acídicos/genética
Animais
Antiporters/genética
Astrócitos/metabolismo
Química Encefálica/genética
Glucose/metabolismo
Glucosefosfato Desidrogenase/genética
Glucosefosfato Desidrogenase/metabolismo
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Consumo de Oxigênio/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Agc1 protein, mouse); 0 (Aggrecans); 0 (Amino Acid Transport Systems, Acidic); 0 (Antiporters); 33X04XA5AT (Lactic Acid); EC 1.1.1.49 (Glucosephosphate Dehydrogenase); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170814
[Lr] Data última revisão:
170814
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170422
[St] Status:MEDLINE
[do] DOI:10.1111/jnc.14047



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