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[PMID]:28452458
[Au] Autor:Patel M; Moon HJ; Hong JH; Jeong B
[Ad] Endereço:Department of Chemistry and Nanoscience, Ewha Womans University , 52 Ewhayeodae-gil, Seodaemun-gu, Seoul 03760 Korea.
[Ti] Título:Chiro-Optical Modulation for NURR1 Production from Stem Cells.
[So] Source:ACS Chem Neurosci;8(7):1455-1458, 2017 07 19.
[Is] ISSN:1948-7193
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Nuclear receptor related 1 (NURR1) is an essential protein for maintenance of dopaminergic neurons in adult midbrain of which deficiency leads to Parkinson's disease. To enhance the NURR1 production of neural cells, various approaches are under investigation. Here we report that NURR1 is highly expressed in stem cells by exposure to an L-polarized blue light emitting diode (LED). Compared to stem cells cultured in the absence of a LED, under polarized green and red LEDs, the stem cells exposed to a polarized blue LED significantly enhanced neuronal biomarkers such as neurofilament M (NFM) and neuron specific enolase (NSE) at both mRNA and protein levels. In particular, NURR1 was selectively enhanced by the stem cells exposed to the L-polarized blue LED. Stem cells exposed to the L-polarized blue LED increased mitochondrial ATP and intracellular calcium ions, which support neuronal differentiation of the stem cells. This study suggests that chiro-optical treatments by using polarized light with a specific wavelength can be used for engineering of stem cells with enhanced specific biochemicals, which may open a new method for a specific disease.
[Mh] Termos MeSH primário: Luz
Células Mesenquimais Estromais/metabolismo
Neurogênese
Membro 2 do Grupo A da Subfamília 4 de Receptores Nucleares/biossíntese
[Mh] Termos MeSH secundário: Trifosfato de Adenosina/metabolismo
Cálcio/metabolismo
Técnicas de Cultura de Células/instrumentação
Sobrevivência Celular
Criança
Feminino
Imunofluorescência
Expressão Gênica/efeitos da radiação
Seres Humanos
Células Mesenquimais Estromais/citologia
Células Mesenquimais Estromais/efeitos da radiação
Mitocôndrias/metabolismo
Mitocôndrias/efeitos da radiação
Proteínas de Neurofilamentos/biossíntese
Proteínas de Neurofilamentos/genética
Membro 2 do Grupo A da Subfamília 4 de Receptores Nucleares/genética
Tonsila Palatina
Fosfopiruvato Hidratase/biossíntese
Fosfopiruvato Hidratase/genética
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (NR4A2 protein, human); 0 (Neurofilament Proteins); 0 (Nuclear Receptor Subfamily 4, Group A, Member 2); 0 (RNA, Messenger); 111365-29-8 (neurofilament protein M); 8L70Q75FXE (Adenosine Triphosphate); EC 4.2.1.11 (Phosphopyruvate Hydratase); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180223
[Lr] Data última revisão:
180223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1021/acschemneuro.7b00136


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[PMID]:28679595
[Au] Autor:Sprecher KE; Koscik RL; Carlsson CM; Zetterberg H; Blennow K; Okonkwo OC; Sager MA; Asthana S; Johnson SC; Benca RM; Bendlin BB
[Ad] Endereço:From the Department of Medicine and Neuroscience Training Program (K.E.S.) and Wisconsin Alzheimer's Disease Research Center (C.M.C., O.C.O., M.A.S., S.A., S.C.J., B.B.B.), University of Wisconsin-Madison; Wisconsin Alzheimer's Institute (R.L.K., C.M.C., O.C.O., M.A.S., S.A., S.C.J., B.B.B.); Geriat
[Ti] Título:Poor sleep is associated with CSF biomarkers of amyloid pathology in cognitively normal adults.
[So] Source:Neurology;89(5):445-453, 2017 Aug 01.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the relationship between sleep quality and CSF markers of Alzheimer disease (AD) pathology in late midlife. METHODS: We investigated the relationship between sleep quality and CSF AD biomarkers in a cohort enriched for parental history of sporadic AD, the Wisconsin Registry for Alzheimer's Prevention. A total of 101 participants (mean age 62.9 ± 6.2 years, 65.3% female) completed sleep assessments and CSF collection and were cognitively normal. Sleep quality was measured with the Medical Outcomes Study Sleep Scale. CSF was assayed for biomarkers of amyloid metabolism and plaques (ß-amyloid 42 [Aß42]), tau pathology (phosphorylated tau [p-tau] 181), neuronal/axonal degeneration (total tau [t-tau], neurofilament light [NFL]), neuroinflammation/astroglial activation (monocyte chemoattractant protein-1 [MCP-1], chitinase-3-like protein 1 [YKL-40]), and synaptic dysfunction/degeneration (neurogranin). To adjust for individual differences in total amyloid production, Aß42 was expressed relative to Aß40. To assess cumulative pathology, CSF biomarkers were expressed in ratio to Aß42. Relationships among sleep scores and CSF biomarkers were assessed with multiple regression, controlling for age, sex, time between sleep and CSF measurements, and CSF assay batch. RESULTS: Worse subjective sleep quality, more sleep problems, and daytime somnolence were associated with greater AD pathology, indicated by lower CSF Aß42/Aß40 and higher t-tau/Aß42, p-tau/Aß42, MCP-1/Aß42, and YKL-40/Aß42. There were no significant associations between sleep and NFL or neurogranin. CONCLUSIONS: Self-report of poor sleep was associated with greater AD-related pathology in cognitively healthy adults at risk for AD. Effective strategies exist for improving sleep; therefore sleep health may be a tractable target for early intervention to attenuate AD pathogenesis.
[Mh] Termos MeSH primário: Transtornos do Sono-Vigília/líquido cefalorraquidiano
Sono/fisiologia
[Mh] Termos MeSH secundário: Peptídeos beta-Amiloides/líquido cefalorraquidiano
Biomarcadores/líquido cefalorraquidiano
Quimiocina CCL2/líquido cefalorraquidiano
Proteína 1 Semelhante à Quitinase-3/líquido cefalorraquidiano
Feminino
Seres Humanos
Estudos Longitudinais
Masculino
Entrevista Psiquiátrica Padronizada
Meia-Idade
Proteínas de Neurofilamentos/líquido cefalorraquidiano
Proteínas Nucleares/líquido cefalorraquidiano
Fragmentos de Peptídeos/líquido cefalorraquidiano
Fosforilação
Autorrelato
Transtornos do Sono-Vigília/psicologia
Proteínas tau/líquido cefalorraquidiano
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amyloid beta-Peptides); 0 (Biomarkers); 0 (CCL2 protein, human); 0 (CHI3L1 protein, human); 0 (Chemokine CCL2); 0 (Chitinase-3-Like Protein 1); 0 (MAPT protein, human); 0 (NGDN protein, human); 0 (Neurofilament Proteins); 0 (Nuclear Proteins); 0 (Peptide Fragments); 0 (amyloid beta-protein (1-40)); 0 (amyloid beta-protein (1-42)); 0 (neurofilament protein L); 0 (tau Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004171


  3 / 5003 MEDLINE  
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[PMID]:28654681
[Au] Autor:Zhao J; Brown K; Liem RKH
[Ad] Endereço:Department of Pathology and Cell Biology, Columbia University College of Physicians & Surgeons, New York, New York, United States of America.
[Ti] Título:Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model.
[So] Source:PLoS One;12(6):e0180038, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is the most prevalent inherited peripheral neuropathy and is associated with over 90 causative genes. Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of peripheral axons in spinal cord motor neurons and dorsal root ganglion neurons. We have previously generated and characterized a knock-in mouse model of CMT2E with the N98S mutation in Nefl that presented with multiple inclusions in spinal cord neurons. In this report, we conduct immunofluorescence studies of cultured dorsal root ganglia (DRG) from NeflN98S/+ mice, and show that inclusions found in DRG neurites can occur in embryonic stages. Ultrastructural analyses reveal that the inclusions are disordered neurofilaments packed in high density, segregated from other organelles. Immunochemical studies show decreased NFL protein levels in DRG, cerebellum and spinal cord in NeflN98S/+ mice, and total NFL protein pool is shifted toward the triton-insoluble fraction. Our findings reveal the nature of the inclusions in NeflN98S/+ mice, provide useful information to understand mechanisms of CMT2E disease, and identify DRG from NeflN98S/+ mice as a useful cell line model for therapeutic discoveries.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/patologia
Gânglios Espinais/patologia
Corpos de Inclusão/patologia
Filamentos Intermediários/patologia
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Cerebelo/metabolismo
Cerebelo/patologia
Doença de Charcot-Marie-Tooth/metabolismo
Modelos Animais de Doenças
Gânglios Espinais/metabolismo
Gânglios Espinais/ultraestrutura
Corpos de Inclusão/metabolismo
Corpos de Inclusão/ultraestrutura
Filamentos Intermediários/metabolismo
Filamentos Intermediários/ultraestrutura
Camundongos
Proteínas de Neurofilamentos/metabolismo
Medula Espinal/metabolismo
Medula Espinal/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neurofilament Proteins); 0 (neurofilament protein L)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170628
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180038


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[PMID]:28628244
[Au] Autor:Gendron TF; Daughrity LM; Heckman MG; Diehl NN; Wuu J; Miller TM; Pastor P; Trojanowski JQ; Grossman M; Berry JD; Hu WT; Ratti A; Benatar M; Silani V; Glass JD; Floeter MK; Jeromin A; Boylan KB; Petrucelli L; C9ORF72 Neurofilament Study Group
[Ad] Endereço:Department of Neuroscience, Mayo Clinic, Jacksonville, FL.
[Ti] Título:Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis.
[So] Source:Ann Neurol;82(1):139-146, 2017 Jul.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:As potential treatments for C9ORF72-associated amyotrophic lateral sclerosis (c9ALS) approach clinical trials, the identification of prognostic biomarkers for c9ALS becomes a priority. We show that levels of phosphorylated neurofilament heavy chain (pNFH) in cerebrospinal fluid (CSF) predict disease status and survival in c9ALS patients, and are largely stable over time. Moreover, c9ALS patients exhibit higher pNFH levels, more rapid disease progression, and shorter survival after disease onset than ALS patients without C9ORF72 expansions. These data support the use of CSF pNFH as a prognostic biomarker for clinical trials, which will increase the likelihood of successfully developing a treatment for c9ALS. Ann Neurol 2017;82:139-146.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/genética
Proteínas de Neurofilamentos/líquido cefalorraquidiano
Proteínas/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Esclerose Amiotrófica Lateral/líquido cefalorraquidiano
Biomarcadores/líquido cefalorraquidiano
Proteína C9orf72
Estudos de Casos e Controles
Progressão da Doença
Feminino
Seres Humanos
Masculino
Meia-Idade
Fosforilação
Análise de Sobrevida
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (C9orf72 Protein); 0 (C9orf72 protein, human); 0 (Neurofilament Proteins); 0 (Proteins); 108688-71-7 (neurofilament protein H)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE
[do] DOI:10.1002/ana.24980


  5 / 5003 MEDLINE  
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[PMID]:28601473
[Au] Autor:Byrne LM; Rodrigues FB; Blennow K; Durr A; Leavitt BR; Roos RAC; Scahill RI; Tabrizi SJ; Zetterberg H; Langbehn D; Wild EJ
[Ad] Endereço:UCL Institute of Neurology, London, UK.
[Ti] Título:Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis.
[So] Source:Lancet Neurol;16(8):601-609, 2017 Aug.
[Is] ISSN:1474-4465
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Blood biomarkers of neuronal damage could facilitate clinical management of and therapeutic development for Huntington's disease. We investigated whether neurofilament light protein NfL (also known as NF-L) in blood is a potential prognostic marker of neurodegeneration in patients with Huntington's disease. METHODS: We did a retrospective analysis of healthy controls and carriers of CAG expansion mutations in HTT participating in the 3-year international TRACK-HD study. We studied associations between NfL concentrations in plasma and clinical and MRI neuroimaging findings, namely cognitive function, motor function, and brain volume (global and regional). We used random effects models to analyse cross-sectional associations at each study visit and to assess changes from baseline, with and without adjustment for age and CAG repeat count. In an independent London-based cohort of 37 participants (23 HTT mutation carriers and 14 controls), we further assessed whether concentrations of NfL in plasma correlated with those in CSF. FINDINGS: Baseline and follow-up plasma samples were available from 97 controls and 201 individuals carrying HTT mutations. Mean concentrations of NfL in plasma at baseline were significantly higher in HTT mutation carriers than in controls (3·63 [SD 0·54] log pg/mL vs 2·68 [0·52] log pg/mL, p<0·0001) and the difference increased from one disease stage to the next. At any given timepoint, NfL concentrations in plasma correlated with clinical and MRI findings. In longitudinal analyses, baseline NfL concentration in plasma also correlated significantly with subsequent decline in cognition (symbol-digit modality test r=-0·374, p<0·0001; Stroop word reading r=-0·248, p=0·0033), total functional capacity (r=-0·289, p=0·0264), and brain atrophy (caudate r=0·178, p=0·0087; whole-brain r=0·602, p<0·0001; grey matter r=0·518, p<0·0001; white matter r=0·588, p<0·0001; and ventricular expansion r=-0·589, p<0·0001). All changes except Stroop word reading and total functional capacity remained significant after adjustment for age and CAG repeat count. In 104 individuals with premanifest Huntington's disease, NfL concentration in plasma at baseline was associated with subsequent clinical onset during the 3-year follow-up period (hazard ratio 3·29 per log pg/mL, 95% CI 1·48-7·34, p=0·0036). Concentrations of NfL in CSF and plasma were correlated in mutation carriers (r=0·868, p<0·0001). INTERPRETATION: NfL in plasma shows promise as a potential prognostic blood biomarker of disease onset and progression in Huntington's disease. FUNDING: Medical Research Council, GlaxoSmithKline, CHDI Foundation, Swedish Research Council, European Research Council, Wallenberg Foundation, and Wolfson Foundation.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Disfunção Cognitiva/sangue
Progressão da Doença
Doença de Huntington/sangue
Proteínas de Neurofilamentos/sangue
[Mh] Termos MeSH secundário: Adulto
Idoso
Atrofia/patologia
Biomarcadores/sangue
Disfunção Cognitiva/etiologia
Disfunção Cognitiva/fisiopatologia
Seguimentos
Seres Humanos
Proteína Huntingtina/genética
Doença de Huntington/diagnóstico por imagem
Doença de Huntington/genética
Meia-Idade
Estudos Retrospectivos
Expansão das Repetições de Trinucleotídeos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (HTT protein, human); 0 (Huntingtin Protein); 0 (Neurofilament Proteins); 0 (neurofilament protein L)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170612
[St] Status:MEDLINE


  6 / 5003 MEDLINE  
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[PMID]:28592456
[Au] Autor:Alcolea D; Vilaplana E; Suárez-Calvet M; Illán-Gala I; Blesa R; Clarimón J; Lladó A; Sánchez-Valle R; Molinuevo JL; García-Ribas G; Compta Y; Martí MJ; Piñol-Ripoll G; Amer-Ferrer G; Noguera A; García-Martín A; Fortea J; Lleó A
[Ad] Endereço:From the Department of Neurology (D.A., E.V., M.S.-C., I.I.-G., R.B., J.C., J.F., A. Lleó), Institut d'Investigacions Biomèdiques Sant Pau-Hospital de Sant Pau, Universitat Autònoma de Barcelona; Alzheimer's Disease and Other Cognitive Disorders Unit (A. Lladó, R.S.-V., J.L.M.), Department of Neurol
[Ti] Título:CSF sAPPß, YKL-40, and neurofilament light in frontotemporal lobar degeneration.
[So] Source:Neurology;89(2):178-188, 2017 Jul 11.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To analyze the clinical utility of 3 CSF biomarkers and their structural imaging correlates in a large cohort of patients with different dementia and parkinsonian syndromes within the spectrum of frontotemporal lobar degeneration (FTLD). METHODS: We analyzed 3 CSF biomarkers (YKL-40, soluble ß fragment of amyloid precursor protein [sAPPß], neurofilament light [NfL]) and core Alzheimer disease (AD) biomarkers (ß-amyloid , total tau, phosphorylated tau) in patients with FTLD-related clinical syndromes (n = 159): behavioral variant of frontotemporal dementia (n = 68), nonfluent (n = 23) and semantic (n = 19) variants of primary progressive aphasia, progressive supranuclear palsy (n = 28), and corticobasal syndrome (n = 21). We also included patients with AD (n = 72) and cognitively normal controls (CN; n = 76). We compared cross-sectional biomarker levels between groups, studied their correlation with cortical thickness, and evaluated their potential diagnostic utility. RESULTS: Patients with FTLD-related syndromes had lower levels of sAPPß than CN and patients with AD. The levels of sAPPß showed a strong correlation with cortical structural changes in frontal and cingulate areas. NfL and YKL-40 levels were high in both the FTLD and AD groups compared to controls. In the receiver operating characteristic analysis, the sAPPß/YKL-40 and NfL/sAPPß ratios had areas under the curve of 0.91 and 0.96, respectively, distinguishing patients with FTLD from CN, and of 0.84 and 0.85, distinguishing patients with FTLD from patients with AD. CONCLUSIONS: The combination of sAPPß with YKL-40 and with NfL in CSF could be useful to increase the certainty of the diagnosis of FTLD-related syndromes in clinical practice. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that CSF levels of sAPPß, YKL-40, and NfL are useful to identify patients with FTLD-related syndromes.
[Mh] Termos MeSH primário: Doença de Alzheimer/líquido cefalorraquidiano
Peptídeos beta-Amiloides/líquido cefalorraquidiano
Biomarcadores/líquido cefalorraquidiano
Proteína 1 Semelhante à Quitinase-3/líquido cefalorraquidiano
Degeneração Lobar Frontotemporal/líquido cefalorraquidiano
Proteínas de Neurofilamentos/líquido cefalorraquidiano
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Estudos Transversais
Feminino
Seres Humanos
Masculino
Meia-Idade
Fragmentos de Peptídeos/líquido cefalorraquidiano
Afasia Primária Progressiva não Fluente/líquido cefalorraquidiano
Sensibilidade e Especificidade
Síndrome
Proteínas tau/líquido cefalorraquidiano
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amyloid beta-Peptides); 0 (Biomarkers); 0 (Chitinase-3-Like Protein 1); 0 (Neurofilament Proteins); 0 (Peptide Fragments); 0 (amyloid beta-protein (1-42)); 0 (neurofilament protein L); 0 (tau Proteins)
[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:170609
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004088


  7 / 5003 MEDLINE  
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[PMID]:28584012
[Au] Autor:Maniero C; Garg S; Zhao W; Johnson TI; Zhou J; Gurnell M; Brown MJ
[Ad] Endereço:From the Clinical Pharmacology Unit, Department of Medicine (C.M., S.G., J.Z.) and Medical Research Council Cancer Unit (T.I.J.), University of Cambridge, United Kingdom; Human Research Tissue Bank, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, United Kingdom (W.Z.); M
[Ti] Título:NEFM (Neurofilament Medium) Polypeptide, a Marker for Zona Glomerulosa Cells in Human Adrenal, Inhibits D1R (Dopamine D1 Receptor)-Mediated Secretion of Aldosterone.
[So] Source:Hypertension;70(2):357-364, 2017 Aug.
[Is] ISSN:1524-4563
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Heterogeneity among aldosterone-producing adenomas (APAs) has been highlighted by the discovery of somatic mutations. mutations predominate in large zona fasciculata (ZF)-like APAs; mutations in , , and are more likely to be found in small zona glomerulosa (ZG)-like APAs. Microarray comparison of mutant versus wild-type APAs revealed significant differences in transcriptomes. , encoding a neurofilament subunit which is a D1R (dopamine D1 receptor)-interacting protein, was 4-fold upregulated in ZG-like versus ZF-like APAs and 14-fold more highly expressed in normal ZG versus ZF. Immunohistochemistry confirmed selective expression of NEFM (neurofilament medium) polypeptide in ZG and in ZG-like APAs. Silencing in adrenocortical H295R cells increased basal aldosterone secretion and cell proliferation; silencing also amplified aldosterone stimulation by the D1R agonist, fenoldopam, and inhibition by the D1R antagonist, SCH23390. NEFM coimmunoprecipitated with D1R, and its expression was stimulated by fenoldopam. Immunohistochemistry for D1R was mainly intracellular in ZG-like APAs but membranous in ZF-like APAs. Aldosterone secretion in response to fenoldopam in primary cells from ZF-like APAs was higher than in cells from ZG-like APAs. Transfection of mutant KCNJ5 caused a large reduction in NEFM expression in H295R cells. We conclude that NEFM is a negative regulator of aldosterone production and cell proliferation, in part by facilitating D1R internalization from the plasma membrane. Downregulation of NEFM in ZF-like APAs may contribute to a D1R/D2R imbalance underlying variable pharmacological responses to dopaminergic drugs among patients with APAs. Finally, taken together, our data point to the possibility that ZF-like APAs are in fact ZG in origin.
[Mh] Termos MeSH primário: Adenoma
Neoplasias das Glândulas Suprarrenais
Aldosterona/biossíntese
Hipertensão/metabolismo
Proteínas de Neurofilamentos
Receptores de Dopamina D1
Zona Fasciculada/fisiologia
Zona Glomerulosa/fisiologia
[Mh] Termos MeSH secundário: Adenoma/complicações
Adenoma/genética
Adenoma/patologia
Neoplasias das Glândulas Suprarrenais/complicações
Neoplasias das Glândulas Suprarrenais/genética
Neoplasias das Glândulas Suprarrenais/patologia
Linhagem Celular Tumoral
Proliferação Celular/fisiologia
Agonistas de Dopamina/metabolismo
Agonistas de Dopamina/farmacologia
Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G/genética
Regulação da Expressão Gênica
Seres Humanos
Hiperaldosteronismo/etiologia
Hiperaldosteronismo/metabolismo
Proteínas de Neurofilamentos/genética
Proteínas de Neurofilamentos/metabolismo
Receptores de Dopamina D1/agonistas
Receptores de Dopamina D1/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dopamine Agonists); 0 (G Protein-Coupled Inwardly-Rectifying Potassium Channels); 0 (KCNJ5 protein, human); 0 (Neurofilament Proteins); 0 (Receptors, Dopamine D1); 111365-29-8 (neurofilament protein M); 4964P6T9RB (Aldosterone)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170830
[Lr] Data última revisão:
170830
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE
[do] DOI:10.1161/HYPERTENSIONAHA.117.09231


  8 / 5003 MEDLINE  
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[PMID]:28512753
[Au] Autor:Disanto G; Barro C; Benkert P; Naegelin Y; Schädelin S; Giardiello A; Zecca C; Blennow K; Zetterberg H; Leppert D; Kappos L; Gobbi C; Kuhle J; Swiss Multiple Sclerosis Cohort Study Group
[Ad] Endereço:Neurocenter of Southern Switzerland, Civic Hospital, Lugano, Switzerland.
[Ti] Título:Serum Neurofilament light: A biomarker of neuronal damage in multiple sclerosis.
[So] Source:Ann Neurol;81(6):857-870, 2017 Jun.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Neurofilament light chains (NfL) are unique to neuronal cells, are shed to the cerebrospinal fluid (CSF), and are detectable at low concentrations in peripheral blood. Various diseases causing neuronal damage have resulted in elevated CSF concentrations. We explored the value of an ultrasensitive single-molecule array (Simoa) serum NfL (sNfL) assay in multiple sclerosis (MS). METHODS: sNfL levels were measured in healthy controls (HC, n = 254) and two independent MS cohorts: (1) cross-sectional with paired serum and CSF samples (n = 142), and (2) longitudinal with repeated serum sampling (n = 246, median follow-up = 3.1 years, interquartile range [IQR] = 2.0-4.0). We assessed their relation to concurrent clinical, imaging, and treatment parameters and to future clinical outcomes. RESULTS: sNfL levels were higher in both MS cohorts than in HC (p < 0.001). We found a strong association between CSF NfL and sNfL (ß = 0.589, p < 0.001). Patients with either brain or spinal (43.4pg/ml, IQR = 25.2-65.3) or both brain and spinal gadolinium-enhancing lesions (62.5pg/ml, IQR = 42.7-71.4) had higher sNfL than those without (29.6pg/ml, IQR = 20.9-41.8; ß = 1.461, p = 0.005 and ß = 1.902, p = 0.002, respectively). sNfL was independently associated with Expanded Disability Status Scale (EDSS) assessments (ß = 1.105, p < 0.001) and presence of relapses (ß = 1.430, p < 0.001). sNfL levels were lower under disease-modifying treatment (ß = 0.818, p = 0.003). Patients with sNfL levels above the 80th, 90th, 95th, 97.5th, and 99th HC-based percentiles had higher risk of relapses (97.5th percentile: incidence rate ratio = 1.94, 95% confidence interval [CI] = 1.21-3.10, p = 0.006) and EDSS worsening (97.5th percentile: OR = 2.41, 95% CI = 1.07-5.42, p = 0.034). INTERPRETATION: These results support the value of sNfL as a sensitive and clinically meaningful blood biomarker to monitor tissue damage and the effects of therapies in MS. Ann Neurol 2017;81:857-870.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Esclerose Múltipla/sangue
Esclerose Múltipla/diagnóstico por imagem
Proteínas de Neurofilamentos/sangue
Medula Espinal/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Idoso
Bioensaio
Biomarcadores/sangue
Estudos Transversais
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Esclerose Múltipla/líquido cefalorraquidiano
Esclerose Múltipla/fisiopatologia
Projetos Piloto
Recidiva
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Neurofilament Proteins); 0 (neurofilament protein L)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170518
[St] Status:MEDLINE
[do] DOI:10.1002/ana.24954


  9 / 5003 MEDLINE  
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[PMID]:28501821
[Au] Autor:Horga A; Laurà M; Jaunmuktane Z; Jerath NU; Gonzalez MA; Polke JM; Poh R; Blake JC; Liu YT; Wiethoff S; Bettencourt C; Lunn MP; Manji H; Hanna MG; Houlden H; Brandner S; Züchner S; Shy M; Reilly MM
[Ad] Endereço:MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
[Ti] Título:Genetic and clinical characteristics of -related Charcot-Marie-Tooth disease.
[So] Source:J Neurol Neurosurg Psychiatry;88(7):575-585, 2017 Jul.
[Is] ISSN:1468-330X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene ( ). METHODS: Combined analysis of newly identified patients with -related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the mutations P8R and N98S and the novel variant L311P were identified. Combined data from these cases and 62 kindreds from the literature revealed four common mutations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%) kindreds, respectively. Eight patients had de novo mutations. Loss of large-myelinated fibres was a uniform feature in a total of 21 sural nerve biopsies and 'onion bulb' formations and/or thin myelin sheaths were observed in 14 (67%) of them. The neurophysiological phenotype was broad but most patients with E90K and N98S had upper limb motor conduction velocities <38 m/s. Age of onset was ≤3 years in 25 cases. Pyramidal tract signs were described in 13 patients and 7 patients were initially diagnosed with or tested for inherited ataxia. Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI. CONCLUSIONS: -related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of sequence variants and the differential diagnosis with other forms of CMT.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/genética
Doença de Charcot-Marie-Tooth/patologia
Mutação/genética
Proteínas de Neurofilamentos/genética
[Mh] Termos MeSH secundário: Axônios/patologia
Ataxia Cerebelar/genética
Ataxia Cerebelar/patologia
Genótipo
Seres Humanos
Linhagem
Fenótipo
Nervo Sural/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neurofilament Proteins); 0 (neurofilament protein L)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171114
[Lr] Data última revisão:
171114
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170515
[St] Status:MEDLINE
[do] DOI:10.1136/jnnp-2016-315077


  10 / 5003 MEDLINE  
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[PMID]:28500227
[Au] Autor:Poesen K; De Schaepdryver M; Stubendorff B; Gille B; Muckova P; Wendler S; Prell T; Ringer TM; Rhode H; Stevens O; Claeys KG; Couwelier G; D'Hondt A; Lamaire N; Tilkin P; Van Reijen D; Gourmaud S; Fedtke N; Heiling B; Rumpel M; Rödiger A; Gunkel A; Witte OW; Paquet C; Vandenberghe R; Grosskreutz J; Van Damme P
[Ad] Endereço:From the Laboratory for Molecular Neurobiomarker Research (K.P., M.D.S., B.G.), Laboratory for Cognitive Neurology (R.V.) and Laboratory of Neurobiology (Center for Brain & Disease Research, VIB, Leuven) (P.V.D.), Department of Neurosciences, KU Leuven (University of Leuven); Laboratory Medicine
[Ti] Título:Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.
[So] Source:Neurology;88(24):2302-2309, 2017 Jun 13.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase. METHODS: We measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters. RESULTS: pNfH was most specific for motor neuron disease (specificity 88.2% [confidence interval (CI) 83.0%-92.3%]). pNfH had the best performance to differentially diagnose patients with ALS from DM with a sensitivity of 90.7% (CI 84.9%-94.8%), a specificity of 88.0% (CI 75.7%-95.5%) and a likelihood ratio of 7.6 (CI 3.6-16.0) at a cutoff of 768 pg/mL. CSF pNfH and NfL levels were significantly lower in slow disease progressors, however, with a poor prognostic performance with respect to the disease progression rate. CSF pNfH and NfL levels increased significantly as function of the number of regions with both upper and lower motor involvement. CONCLUSIONS: In particular, CSF pNfH concentrations show an added value as diagnostic biomarkers for ALS, whereas the prognostic value of pNfH and NfL warrants further investigation. Both pNfH and NfL correlated with the extent of motor neuron degeneration. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/líquido cefalorraquidiano
Proteínas de Neurofilamentos/líquido cefalorraquidiano
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Esclerose Amiotrófica Lateral/genética
Biomarcadores/líquido cefalorraquidiano
Criança
Estudos Transversais
Diagnóstico Diferencial
Progressão da Doença
Feminino
Seres Humanos
Estudos Longitudinais
Masculino
Meia-Idade
Fosforilação
Prognóstico
Índice de Gravidade de Doença
Método Simples-Cego
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Biomarkers); 0 (Neurofilament Proteins); 0 (neurofilament protein L); 108688-71-7 (neurofilament protein H)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170514
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004029



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