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[PMID]:29362359
[Au] Autor:Naumann M; Pal A; Goswami A; Lojewski X; Japtok J; Vehlow A; Naujock M; Günther R; Jin M; Stanslowsky N; Reinhardt P; Sterneckert J; Frickenhaus M; Pan-Montojo F; Storkebaum E; Poser I; Freischmidt A; Weishaupt JH; Holzmann K; Troost D; Ludolph AC; Boeckers TM; Liebau S; Petri S; Cordes N; Hyman AA; Wegner F; Grill SW; Weis J; Storch A; Hermann A
[Ad] Endereço:Department of Neurology, Technische Universität Dresden, 01307, Dresden, Germany.
[Ti] Título:Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
[So] Source:Nat Commun;9(1):335, 2018 01 23.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. Proper shuttling between the nucleus and cytoplasm is essential for physiological cell function. However, the initial event in the pathophysiology of FUS-ALS remains enigmatic. Using human induced pluripotent stem cell (hiPSCs)-derived motor neurons (MNs), we show that impairment of poly(ADP-ribose) polymerase (PARP)-dependent DNA damage response (DDR) signaling due to mutations in the FUS nuclear localization sequence (NLS) induces additional cytoplasmic FUS mislocalization which in turn results in neurodegeneration and FUS aggregate formation. Our work suggests that a key pathophysiologic event in ALS is upstream of aggregate formation. Targeting DDR signaling could lead to novel therapeutic routes for ameliorating ALS.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/metabolismo
Dano ao DNA
Neurônios Motores/metabolismo
Mutação
Agregação Patológica de Proteínas/metabolismo
Proteína FUS de Ligação a RNA/metabolismo
[Mh] Termos MeSH secundário: Transporte Ativo do Núcleo Celular/genética
Idoso
Idoso de 80 Anos ou mais
Esclerose Amiotrófica Lateral/genética
Esclerose Amiotrófica Lateral/patologia
Diferenciação Celular
Núcleo Celular/metabolismo
Citoplasma/metabolismo
Feminino
Expressão Gênica
Seres Humanos
Células-Tronco Pluripotentes Induzidas/metabolismo
Células-Tronco Pluripotentes Induzidas/patologia
Masculino
Meia-Idade
Neurônios Motores/patologia
Sinais de Localização Nuclear/genética
Sinais de Localização Nuclear/metabolismo
Poli(ADP-Ribose) Polimerase-1/genética
Poli(ADP-Ribose) Polimerase-1/metabolismo
Agregação Patológica de Proteínas/genética
Agregação Patológica de Proteínas/patologia
Proteína FUS de Ligação a RNA/genética
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Nuclear Localization Signals); 0 (RNA-Binding Protein FUS); EC 2.4.2.30 (PARP1 protein, human); EC 2.4.2.30 (Poly (ADP-Ribose) Polymerase-1)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02299-1


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[PMID]:28463112
[Au] Autor:Edens BM; Yan J; Miller N; Deng HX; Siddique T; Ma YC
[Ad] Endereço:Department of Pediatrics, Northwestern University Feinberg School of Medicine, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, United States.
[Ti] Título:A novel ALS-associated variant in regulates motor axon morphogenesis.
[So] Source:Elife;6, 2017 05 02.
[Is] ISSN:2050-084X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The etiological underpinnings of amyotrophic lateral sclerosis (ALS) are complex and incompletely understood, although contributions to pathogenesis by regulators of proteolytic pathways have become increasingly apparent. Here, we present a novel variant in that is associated with ALS and show that its expression compromises motor axon morphogenesis in mouse motor neurons and in zebrafish. We further demonstrate that the ALS-associated variant impairs proteasomal function, and identify the Wnt signaling pathway effector beta-catenin as a substrate. Inhibition of beta-catenin function rescues the variant-induced motor axon phenotypes. These findings provide a strong link between the regulation of axonal morphogenesis and a new ALS-associated gene variant mediated by protein degradation pathways.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/genética
Esclerose Amiotrófica Lateral/patologia
Proteínas de Transporte/genética
Morfogênese
Neurônios Motores/citologia
Proteínas Nucleares/genética
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Camundongos
Complexo de Endopeptidases do Proteassoma/metabolismo
Proteólise
Peixe-Zebra
beta Catenina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (Nuclear Proteins); 0 (UBQLN4 protein, human); 0 (beta Catenin); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


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[PMID]:28461135
[Au] Autor:Jacobsen AB; Bostock H; Fuglsang-Frederiksen A; Duez L; Beniczky S; Møller AT; Blicher JU; Tankisi H
[Ad] Endereço:Department of Clinical Neurophysiology, Aarhus University Hospital, Aarhus, Denmark.
[Ti] Título:Reproducibility, and sensitivity to motor unit loss in amyotrophic lateral sclerosis, of a novel MUNE method: MScanFit MUNE.
[So] Source:Clin Neurophysiol;128(7):1380-1388, 2017 07.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To examine inter- and intra-rater reproducibility and sensitivity to motor unit loss of a novel motor unit number estimation (MUNE) method, MScanFit MUNE (MScan), compared to two traditional MUNE methods; Multiple point stimulation MUNE (MPS) and Motor Unit Number Index (MUNIX). METHODS: Twenty-two ALS patients and 20 sex- and age-matched healthy controls were included. MPS, MUNIX, and MScan were performed twice each by two blinded physicians. Reproducibility of MUNE values was assessed by coefficient of variation (CV) and intra class correlation coefficient (ICC). Ability to detect motor unit loss was assessed by ROC curves and area under the curve (AUC). The times taken for each of the methods were recorded. RESULTS: MScan was more reproducible than MPS and MUNIX both between and within operators. The mean CV for MScan (12.3%) was significantly lower than for MPS (24.7%) or MUNIX (21.5%). All methods had ICC>0.94. MScan and Munix were significantly quicker to perform than MPS (6.3mvs. 13.2m). MScan (AUC=0.930) and MPS (AUC=0.899) were significantly better at discriminating between patients and healthy controls than MUNIX (AUC=0.831). CONCLUSIONS: MScan was more consistent than MPS or MUNIX and better at distinguishing ALS patients from healthy subjects. SIGNIFICANCE: MScan may improve detection and assessment of motor unit loss.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/diagnóstico
Esclerose Amiotrófica Lateral/fisiopatologia
Eletromiografia/normas
Neurônios Motores/fisiologia
Recrutamento Neurofisiológico/fisiologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Eletromiografia/métodos
Feminino
Seres Humanos
Masculino
Meia-Idade
Reprodutibilidade dos Testes
Método Simples-Cego
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


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[PMID]:29353725
[Au] Autor:Haider A; Spinelli F; Herde AM; Mu B; Keller C; Margelisch M; Weber M; Schibli R; Mu L; Ametamey SM
[Ad] Endereço:Institute of Pharmaceutical Sciences, ETH Zürich, 8093 Zürich, Switzerland.
[Ti] Título:Evaluation of 4-oxo-quinoline-based CB2 PET radioligands in R6/2 chorea huntington mouse model and human ALS spinal cord tissue.
[So] Source:Eur J Med Chem;145:746-759, 2018 Feb 10.
[Is] ISSN:1768-3254
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:The cannabinoid receptor 2 (CB2) has been implicated in a series of neurodegenerative disorders and has emerged as an interesting biological target for therapeutic as well as diagnostic purposes. In the present work, we describe an improved radiosynthetic approach to obtain the previously reported CB2-specific PET radioligand [ F]RS-126 in higher radiochemical yields and molar activities. Additionally, the study revealed that prolongation of the [ F]RS-126 fluoroalkyl side chain ultimately leads to an improved stability towards mouse liver enzymes but is accompanied by a reduction in selectivity over the cannabinoid receptor 1 (CB1). Huntington-related phenotypic changes as well as striatal D2R downregulation were confirmed for the transgenic R6/2 mouse model. CB2 upregulation in R6/2 Chorea Huntington mice was observed in hippocampus, cortex, striatum and cerebellum by qPCR, however, these results could not be confirmed at the protein level by PET imaging. Furthermore, we evaluated the utility of the newly developed [ C]RS-028, a potent [ F]RS-126 derivative with increased polarity and high selectivity over CB1 in post-mortem human ALS spinal cord and control tissue. Applying in vitro autoradiography, the translational relevance of CB2 imaging was demonstrated by the specific binding of [ C]RS-028 to post-mortem human ALS spinal cord tissue.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/diagnóstico por imagem
Doença de Huntington/diagnóstico por imagem
Quinolinas/química
Compostos Radiofarmacêuticos/química
Receptor CB2 de Canabinoide/metabolismo
Medula Espinal/diagnóstico por imagem
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Relação Dose-Resposta a Droga
Radioisótopos de Flúor
Seres Humanos
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Estrutura Molecular
Tomografia por Emissão de Pósitrons
Quinolinas/síntese química
Compostos Radiofarmacêuticos/síntese química
Ratos
Ratos Wistar
Relação Estrutura-Atividade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fluorine Radioisotopes); 0 (Quinolines); 0 (Radiopharmaceuticals); 0 (Receptor, Cannabinoid, CB2); E66400VT9R (quinoline)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180123
[St] Status:MEDLINE


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[PMID]:29365034
[Au] Autor:Kuehn BM
[Ti] Título:Simple Models and Ice Bucket Challenge Fuel Progress in ALS Treatment.
[So] Source:JAMA;319(6):535-537, 2018 Feb 13.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/tratamento farmacológico
Antipsicóticos/uso terapêutico
Obtenção de Fundos/métodos
Pimozida/uso terapêutico
Apoio à Pesquisa como Assunto
Mídias Sociais
[Mh] Termos MeSH secundário: Animais
Caenorhabditis elegans/fisiologia
Ensaios Clínicos Fase II como Assunto/economia
Modelos Animais de Doenças
Seres Humanos
Junção Neuromuscular/efeitos dos fármacos
[Pt] Tipo de publicação:NEWS
[Nm] Nome de substância:
0 (Antipsychotic Agents); 1HIZ4DL86F (Pimozide)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.20704


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[PMID]:29269692
[Au] Autor:Ishikawa T; Nakamura K; Shimasaki R; Goto K; Umehara F
[Ad] Endereço:Department of Neurology, Nishibeppu National Hospital.
[Ti] Título:[A case of mitochondrial disease with multiple mitochondrial DNA deletions suspected amyotrophic lateral sclerosis-frontotemporal dementia].
[So] Source:Rinsho Shinkeigaku;58(1):15-20, 2018 Jan 26.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:A 76-year-old woman showed a dramatic lowering of her tone of voice in October 2014, followed by muscle weakness of the left arm. The previous attending physician noticed remarkable left dominant frontotemporal lobe atrophy on cranial MRI. Her dysarthria, dysphagia and the muscle weakness of her extremities worsened, and a muscle biopsy revealed mitochondrial abnormality. The mitochondrial DNA from her muscle showed multiple deletions; the previous physician therefore diagnosed the patient with mitochondrial disease. The patient resembled amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD). No other cases of ALS-FTD with mitochondrial disease have been reported in Japan. We therefore consider the present case to be valuable.
[Mh] Termos MeSH primário: DNA Mitocondrial/genética
Deleção de Genes
Doenças Mitocondriais/diagnóstico
Doenças Mitocondriais/genética
[Mh] Termos MeSH secundário: Idoso
Esclerose Amiotrófica Lateral
Arginina/administração & dosagem
Diagnóstico Diferencial
Evolução Fatal
Feminino
Demência Frontotemporal
Seres Humanos
Mitocôndrias Musculares/patologia
Doenças Mitocondriais/tratamento farmacológico
Doenças Mitocondriais/patologia
Músculo Esquelético/ultraestrutura
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 94ZLA3W45F (Arginine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171223
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001071


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[PMID]:29470458
[Au] Autor:Mehta P; Kaye W; Raymond J; Wu R; Larson T; Punjani R; Heller D; Cohen J; Peters T; Muravov O; Horton K
[Ad] Endereço:Division of Toxicology and Human Health Sciences, Agency for Toxic Substances and Disease Registry, CDC.
[Ti] Título:Prevalence of Amyotrophic Lateral Sclerosis - United States, 2014.
[So] Source:MMWR Morb Mortal Wkly Rep;67(7):216-218, 2018 Feb 23.
[Is] ISSN:1545-861X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease; the majority of ALS patients die within 2-5 years of receiving a diagnosis (1). Familial ALS, a hereditary form of the disease, accounts for 5%-10% of cases, whereas the remaining sporadic cases have no clearly defined etiology (1). ALS affects persons of all races and ethnicities; however, whites, males, non-Hispanics, persons aged >60 years, and those with a family history of ALS are more likely to develop the disease (1-3). No cure for ALS has yet been identified, and the lack of proven and effective therapeutic interventions is an ongoing challenge. Current treatments available do not cure ALS but have been shown to slow disease progression. Until recently, only one drug (riluzole) was approved to treat ALS; however, in 2017, the Food and Drug Administration approved a second drug, edaravone (4).
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Masculino
Meia-Idade
Prevalência
Sistema de Registros
Estados Unidos/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180223
[St] Status:MEDLINE
[do] DOI:10.15585/mmwr.mm6707a3


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[PMID]:29293261
[Au] Autor:Gibbons C; Pagnini F; Friede T; Young CA
[Ad] Endereço:The Primary Care Unit, University of Cambridge, Forvie Site, Robinson Way, Cambridge, Cambridgeshire, UK, CB2 0SR.
[Ti] Título:Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease.
[So] Source:Cochrane Database Syst Rev;1:CD011005, 2018 Jan 02.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is terminal, progressive neurological condition for which there are no curative treatments. Among people with ALS/MND, fatigue is a common and debilitating symptom, which is characterised by reversible motor weakness and whole-body tiredness that is only partially relieved by rest. The effectiveness of pharmacological or non-pharmacological treatments for fatigue in ALS/MND is not yet established. OBJECTIVES: To assess the effects of pharmacological and non-pharmacological interventions for fatigue in ALS/MND. SEARCH METHODS: We searched the following databases on 5 September 2017: Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE, Embase, PsycINFO, CINAHL Plus, and ERIC. We also searched two clinical trials registries. SELECTION CRITERIA: We selected randomised and quasi-randomised controlled trials of any intervention which sought to reduce fatigue for people with ALS/MND. We included studies if reduction in fatigue was a primary or secondary outcome of the trial. DATA COLLECTION AND ANALYSIS: We used the standard methodological procedures expected by Cochrane. MAIN RESULTS: We included one pharmacological (modafinil) study and three non-pharmacological studies (resistance exercise, respiratory exercise, and repetitive transcranial magnetic stimulation (rTMS)), involving a total of 86 participants with ALS/MND. None of the included studies were free from risk of bias. Since there was only one trial for each intervention, no meta-analysis was possible. All studies assessed fatigue using the Fatigue Severity Scale (FSS; scale from 9 to 63, higher scores indicate more fatigue). Information for assessing bias was often lacking in study reports, making the risk of bias unclear across several domains in all trials. Blinding of participants was not possible in exercise trials, but the outcome assessment was blinded.We found very low-quality evidence suggesting possible improvements in fatigue for modafinil treatment versus placebo (MD -11.00, 95% CI -23.08 to 1.08), respiratory exercise versus a sham intervention (MD -9.65, 95% CI -22.04 to 2.73), and rTMS versus sham rTMS (data not provided), which warrant further investigation to clarify the efficacy of these treatments for fatigue in ALS/MND. We found no clear improvements in fatigue for resistance exercise versus usual care (MD 0.20, 95% CI -10.98 to 11.38; very low-quality evidence).Three participants in the modafinil group dropped out of the modafinil study, two citing issues with headache and one with chest tightness; other adverse effects were anxiety, nausea, dizziness, and sialorrhoea (probably ALS-related). The trials reported no adverse effects of exercise or rTMS.We cannot be certain about the effects of any of the interventions studied because of imprecision (small numbers of participants, wide CI), and possible study limitations. AUTHORS' CONCLUSIONS: It is impossible to draw firm conclusions about the effectiveness of interventions to improve fatigue for people with ALS/MND as there are few randomised studies, and the quality of available evidence is very low.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/complicações
Compostos Benzidrílicos/uso terapêutico
Exercícios Respiratórios/métodos
Fadiga/terapia
Treinamento de Resistência/métodos
Estimulação Magnética Transcraniana/métodos
[Mh] Termos MeSH secundário: Fadiga/etiologia
Seres Humanos
Ensaios Clínicos Controlados Aleatórios como Assunto
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Benzhydryl Compounds); R3UK8X3U3D (modafinil)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180103
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD011005.pub2


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[PMID]:29220677
[Au] Autor:Lu Q; Li B; Ou D; Erlendsdottir M; Powles RL; Jiang T; Hu Y; Chang D; Jin C; Dai W; He Q; Liu Z; Mukherjee S; Crane PK; Zhao H
[Ad] Endereço:Department of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
[Ti] Título:A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics.
[So] Source:Am J Hum Genet;101(6):939-964, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Despite the success of large-scale genome-wide association studies (GWASs) on complex traits, our understanding of their genetic architecture is far from complete. Jointly modeling multiple traits' genetic profiles has provided insights into the shared genetic basis of many complex traits. However, large-scale inference sets a high bar for both statistical power and biological interpretability. Here we introduce a principled framework to estimate annotation-stratified genetic covariance between traits using GWAS summary statistics. Through theoretical and numerical analyses, we demonstrate that our method provides accurate covariance estimates, thereby enabling researchers to dissect both the shared and distinct genetic architecture across traits to better understand their etiologies. Among 50 complex traits with publicly accessible GWAS summary statistics (N ≈ 4.5 million), we identified more than 170 pairs with statistically significant genetic covariance. In particular, we found strong genetic covariance between late-onset Alzheimer disease (LOAD) and amyotrophic lateral sclerosis (ALS), two major neurodegenerative diseases, in single-nucleotide polymorphisms (SNPs) with high minor allele frequencies and in SNPs located in the predicted functional genome. Joint analysis of LOAD, ALS, and other traits highlights LOAD's correlation with cognitive traits and hints at an autoimmune component for ALS.
[Mh] Termos MeSH primário: Doença de Alzheimer/genética
Esclerose Amiotrófica Lateral/genética
Análise de Variância
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla/métodos
[Mh] Termos MeSH secundário: Seres Humanos
Desequilíbrio de Ligação/genética
Anotação de Sequência Molecular
Polimorfismo de Nucleotídeo Único/genética
Locos de Características Quantitativas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:28470818
[Au] Autor:Spataro R; Volanti P; Lo Coco D; La Bella V
[Ad] Endereço:Department of Experimental BioMedicine and Clinical Neurosciences, ALS Clinical Research Center, University of Palermo, Palermo, Italy.
[Ti] Título:Marital status is a prognostic factor in amyotrophic lateral sclerosis.
[So] Source:Acta Neurol Scand;136(6):624-630, 2017 Dec.
[Is] ISSN:1600-0404
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVES: Several variables have been linked to a shorter survival in patients with amyotrophic lateral sclerosis (ALS), for example, female sex, older age, site of disease onset, rapid disease progression, and a relatively short diagnostic delay. With regard to marital status, previous studies suggested that living with a partner might be associated to a longer survival and a higher likelihood to proceed to tracheostomy. Therefore, to further strengthen this hypothesis, we investigated the role of marital status as a prognostic variable in a cohort of ALS patients. METHODS: We performed a retrospective analysis on 501 consecutive ALS patients for which a complete disease's natural history and clinical/demographic data were available. At diagnosis, 409 patients (81.6%) were married or lived with a stable partner, whereas 92 patients (18.4%) were single/widowed/divorced. RESULTS: In our ALS cohort, being married was associated with a median longer survival (married, 35 months [24-50] vs unmarried, 27 months [18-42]; P<.004). Moreover, married and unmarried patients were significantly different in many clinical and demographic variables, including age at disease onset, gender, body mass index, and number of children. Cox regression analysis showed that age at onset, diagnostic delay, and marital status were independent predictors of survival. In unmarried patients, female sex was also significantly associated with shorter survival. CONCLUSIONS: Marital status is a prognostic factor in ALS, and it significantly affects survival.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/mortalidade
Estado Civil
[Mh] Termos MeSH secundário: Idoso
Esclerose Amiotrófica Lateral/diagnóstico
Feminino
Seres Humanos
Masculino
Meia-Idade
Prognóstico
Análise de Regressão
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1111/ane.12771



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