Base de dados : MEDLINE
Pesquisa : C05.651.534.500.500 [Categoria DeCS]
Referências encontradas : 4355 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 436 ir para página                         

  1 / 4355 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29369170
[Au] Autor:Park JS; Park D
[Ad] Endereço:Department of Neurology, Kyungpook National University, School of Medicine.
[Ti] Título:Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report.
[So] Source:Medicine (Baltimore);97(4):e9379, 2018 Jan.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Although several studies have described the involvement pattern of myotonic dystrophy type 1 (DM1) using muscle MRI, most of these studies have limitations as cross-sectional studies. To the best of our knowledge, there have been no reports of longitudinal studies describing muscle involvement patterns in patients with DM1 via serial MRI. PATIENT CONCERNS: Progressive weakness of both lower extremities. DIAGNOSIS: Two patients with DM1. INTERVENTION: The serial muscle MRI performed in the 2 patients with DM1. OUTCOMES: The serial muscle MRI showed early involvement of proximal (tensor fascia latae) and truncal muscles (spine extensor muscles), and these longitudinal imaging may be helpful to reveal the pattern of muscle involvement in patients with DM1. LESSONS: Since most previous studies on muscle involvement patterns in DM1 patients were cross-sectional studies, this case series of studying muscle involvement patterns through serial MRI in patients with DM1 may have significant clinical significance.
[Mh] Termos MeSH primário: Imagem por Ressonância Magnética/métodos
Distrofia Miotônica/diagnóstico por imagem
[Mh] Termos MeSH secundário: Feminino
Seguimentos
Seres Humanos
Estudos Longitudinais
Extremidade Inferior/diagnóstico por imagem
Meia-Idade
Músculo Esquelético/diagnóstico por imagem
Distrofia Miotônica/complicações
Paresia/diagnóstico por imagem
Paresia/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009379


  2 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28449271
[Au] Autor:Jacobs D; Willekens D; de Die-Smulders C; Frijns JP; Steyaert J
[Ad] Endereço:Centre for Human Genetics, University of Leuven, Leuven, Belgium.
[Ti] Título:Delusional and psychotic disorders in juvenile myotonic dystrophy type-1.
[So] Source:Am J Med Genet B Neuropsychiatr Genet;174(4):359-366, 2017 Jun.
[Is] ISSN:1552-485X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We investigated the clinically derived hypothesis of a relatively high incidence of delusional and psychotic disorders in adolescents with juvenile Myotonic Dystrophy type-1 (DM1). Twenty-seven subjects of age 16-25 with juvenile DM1 and their parents were invited to have a clinical psychiatric interview, and to complete an ASEBA behavior checklist (YSR, ASR, CBCL, and ABCL). We diagnosed a Delusional Disorder in 19% of our patients and a Psychotic Disorder not otherwise specified in another 19%. These two groups of patients had a significantly worse level of clinically defined general functioning. It is clinically relevant to investigate in patients with juvenile DM the symptom of delusions and the presence of a delusional and psychotic disorder, and to consider the presence of juvenile DM in youngsters presenting with such a thought disorder. These disorders compromise the general functioning of the subjects and are often to some extent treatable. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Delusões/etiologia
Distrofia Miotônica/complicações
Transtornos Psicóticos/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Delusões/diagnóstico
Delusões/psicologia
Feminino
Seguimentos
Seres Humanos
Masculino
Distrofia Miotônica/psicologia
Prognóstico
Escalas de Graduação Psiquiátrica
Transtornos Psicóticos/diagnóstico
Transtornos Psicóticos/psicologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170428
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.b.32524


  3 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28958668
[Au] Autor:Russo V; Rago A; Papa AA; Nigro G
[Ad] Endereço:University of Campania "Luigi Vanvitelli" - Monaldi Hospital, Naples, Italy. Electronic address: v.p.russo@libero.it.
[Ti] Título:Which is the true epidemiology of left ventricular dysfunction in patients with myotonic dystrophy type 1?
[So] Source:J Chin Med Assoc;80(11):740-741, 2017 11.
[Is] ISSN:1728-7731
[Cp] País de publicação:China (Republic : 1949- )
[La] Idioma:eng
[Mh] Termos MeSH primário: Distrofia Miotônica
Disfunção Ventricular Esquerda
[Mh] Termos MeSH secundário: Ecocardiografia
Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170930
[St] Status:MEDLINE


  4 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28915272
[Au] Autor:Renna LV; Bosè F; Iachettini S; Fossati B; Saraceno L; Milani V; Colombo R; Meola G; Cardani R
[Ad] Endereço:Laboratory of Muscle Histopathology and Molecular Biology, IRCCS-Policlinico San Donato, San Donato Milanese, Milan, Italy.
[Ti] Título:Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle.
[So] Source:PLoS One;12(9):e0184987, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant multisystemic disorders caused by expansion of microsatellite repeats. In both forms, the mutant transcripts accumulate in nuclear foci altering the function of alternative splicing regulators which are necessary for the physiological mRNA processing. Missplicing of insulin receptor (IR) gene (INSR) has been associated with insulin resistance, however, it cannot be excluded that post-receptor signalling abnormalities could also contribute to this feature in DM. We have analysed the insulin pathway in skeletal muscle biopsies and in myotube cultures from DM patients to assess whether downstream metabolism might be dysregulated and to better characterize the mechanism inducing insulin resistance. DM skeletal muscle exhibits alterations of basal phosphorylation levels of Akt/PKB, p70S6K, GSK3ß and ERK1/2, suggesting that these changes might be accompanied by a lack of further insulin stimulation. Alterations of insulin pathway have been confirmed on control and DM myotubes expressing fetal INSR isoform (INSR-A). The results indicate that insulin action appears to be lower in DM than in control myotubes in terms of protein activation and glucose uptake. Our data indicate that post-receptor signalling abnormalities might contribute to DM insulin resistance regardless the alteration of INSR splicing.
[Mh] Termos MeSH primário: Processamento Alternativo
Antígenos CD
Regulação da Expressão Gênica
Resistência à Insulina/genética
Distrofia Miotônica
Receptor de Insulina
Transdução de Sinais
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Antígenos CD/biossíntese
Antígenos CD/genética
Feminino
Seres Humanos
Masculino
Meia-Idade
Proteínas Musculares/genética
Proteínas Musculares/metabolismo
Distrofia Miotônica/genética
Distrofia Miotônica/metabolismo
Receptor de Insulina/biossíntese
Receptor de Insulina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); 0 (Muscle Proteins); EC 2.7.10.1 (INSR protein, human); EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170916
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0184987


  5 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28910618
[Au] Autor:Zu T; Cleary JD; Liu Y; Bañez-Coronel M; Bubenik JL; Ayhan F; Ashizawa T; Xia G; Clark HB; Yachnis AT; Swanson MS; Ranum LPW
[Ad] Endereço:Center for NeuroGenetics, University of Florida, Gainesville, FL 32610, USA; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA.
[Ti] Título:RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.
[So] Source:Neuron;95(6):1292-1305.e5, 2017 Sep 13.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Several microsatellite-expansion diseases are characterized by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonic dystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTGâ‹…CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and poly-(QAGR) RAN proteins, respectively. In DM2 autopsy brains, LPAC is found in neurons, astrocytes, and glia in gray matter, and antisense QAGR proteins accumulate within white matter. LPAC and QAGR proteins are toxic to cells independent of RNA gain of function. RNA foci and nuclear sequestration of CCUG transcripts by MBNL1 is inversely correlated with LPAC expression. These data suggest a model that involves nuclear retention of expansion RNAs by RNA-binding proteins (RBPs) and an acute phase in which expansion RNAs exceed RBP sequestration capacity, are exported to the cytoplasm, and undergo RAN translation. VIDEO ABSTRACT.
[Mh] Termos MeSH primário: Distrofia Miotônica/metabolismo
Biossíntese de Proteínas
Proteínas de Ligação a RNA/metabolismo
Proteína ran de Ligação ao GTP/biossíntese
[Mh] Termos MeSH secundário: Encéfalo/metabolismo
Sobrevivência Celular
Células Cultivadas
Regulação da Expressão Gênica
Seres Humanos
Mutação
RNA/metabolismo
Proteínas de Ligação a RNA/genética
Proteína ran de Ligação ao GTP/toxicidade
[Pt] Tipo de publicação:JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Nm] Nome de substância:
0 (CNBP protein, human); 0 (MBNL1 protein, human); 0 (RNA-Binding Proteins); 63231-63-0 (RNA); EC 3.6.5.2 (ran GTP-Binding Protein)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE


  6 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28886202
[Au] Autor:Mootha VV; Hansen B; Rong Z; Mammen PP; Zhou Z; Xing C; Gong X
[Ad] Endereço:Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, United States.
[Ti] Título:Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
[So] Source:Invest Ophthalmol Vis Sci;58(11):4579-4585, 2017 Sep 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK. In this study, we examine for RNA-MBNL1 foci in endothelial cells of FECD subjects with DM1, test the hypothesis that DM1 patients are at risk for FECD, and determine prevalence of TCF4 and DMPK expansions in a FECD cohort. Methods: Using FISH, we examined for nuclear RNA-MBNL1 foci in endothelial cells from FECD subjects with DM1. We examined 13 consecutive unrelated DM1 patients for FECD using slit-lamp and specular microscopy. We genotyped TCF4 and DMPK repeat polymorphisms in a FECD cohort of 317 probands using short-tandem repeat and triplet repeat-primed PCR assays. Results: We detected abundant nuclear RNA foci colocalizing with MBNL1 in endothelial cells of FECD subjects with DM1. Six of thirteen DM1 patients (46%) had slit-lamp and specular microscopic findings of FECD, compared to 4% disease prevalence (P = 5.5 × 10-6). As expected, 222 out of 317 (70%) FECD probands harbored TCF4 expansion, while one subject harbored DMPK expansion without prior diagnosis of DM1. Conclusions: Our work suggests that DM1 patients are at risk for FECD. DMPK mutations contribute to the genetic burden of FECD but are uncommon. We establish a connection between two repeat expansion disorders converging upon RNA-MBNL1 foci and FECD.
[Mh] Termos MeSH primário: Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética
Distrofia Endotelial de Fuchs/genética
Distrofia Miotônica/genética
Miotonina Proteína Quinase/genética
RNA Nuclear
Proteínas de Ligação a RNA/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Epitélio Posterior/metabolismo
Epitélio Posterior/patologia
Feminino
Distrofia Endotelial de Fuchs/patologia
Técnicas de Genotipagem
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Meia-Idade
Distrofia Miotônica/patologia
Reação em Cadeia da Polimerase
Processamento de RNA
Lâmpada de Fenda
Fator de Transcrição 4
Expansão das Repetições de Trinucleotídeos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors); 0 (DMPK protein, human); 0 (MBNL1 protein, human); 0 (RNA, Nuclear); 0 (RNA-Binding Proteins); 0 (TCF4 protein, human); 0 (Transcription Factor 4); 0 (Transcription Factors); EC 2.7.11.1 (Myotonin-Protein Kinase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170909
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-22350


  7 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28855409
[Au] Autor:Hilbert JE; Barohn RJ; Clemens PR; Luebbe EA; Martens WB; McDermott MP; Parkhill AL; Tawil R; Thornton CA; Moxley RT; National Registry Scientific Advisory Committee/Investigators
[Ad] Endereço:From the Departments of Neurology (J.E.H., E.A.L., W.B.M., M.P.M., R.T., C.A.T., R.T.M.) and Biostatistics and Computational Biology (M.P.M.), University of Rochester Medical Center, NY; Department of Neurology (R.J.B.), University of Kansas Medical Center, Kansas City; Department of Neurology (P.R.
[Ti] Título:High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.
[So] Source:Neurology;89(13):1348-1354, 2017 Sep 26.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2). METHODS: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 years. RESULTS: At baseline, the majority of patients reported trouble swallowing in DM1 (55%; n = 499 of 913) and constipation in DM2 (53%; n = 96 of 180). Cholecystectomy occurred in 16.5% of patients with DM1 and 12.8% of patients with DM2, on average before 45 years of age. The use of medications indicated for gastroesophageal reflux disease was reported by 22.5% of DM1 and 18.9% of patients with DM2. Greater risk of a GI manifestation was associated with higher body mass index and longer disease duration in DM1 and female sex in DM2. At the 5-year follow-up, the most common new manifestations were trouble swallowing in patients with DM1 and constipation in patients with DM2. CONCLUSIONS: GI manifestations were common in both DM1 and DM2, with a relatively high frequency of gallbladder removal in DM1 and DM2 occurring at a younger age compared to normative data in the literature. Studies are needed to determine the pathomechanism of how sex, weight gain, and duration of disease contribute to GI manifestations and how these manifestations affect quality of life and clinical care for patients with DM1 and DM2.
[Mh] Termos MeSH primário: Gastroenteropatias/epidemiologia
Distrofia Miotônica/epidemiologia
[Mh] Termos MeSH secundário: Fatores Etários
Colecistectomia/estatística & dados numéricos
Progressão da Doença
Feminino
Seguimentos
Gastroenteropatias/complicações
Gastroenteropatias/tratamento farmacológico
Gastroenteropatias/fisiopatologia
Seres Humanos
Masculino
Meia-Idade
Distrofia Miotônica/complicações
Distrofia Miotônica/tratamento farmacológico
Distrofia Miotônica/fisiopatologia
Sistema de Registros
Fatores de Risco
Fatores Sexuais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171029
[Lr] Data última revisão:
171029
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004420


  8 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28838934
[Au] Autor:Feingold B; Mahle WT; Auerbach S; Clemens P; Domenighetti AA; Jefferies JL; Judge DP; Lal AK; Markham LW; Parks WJ; Tsuda T; Wang PJ; Yoo SJ; American Heart Association Pediatric Heart Failure Committee of the Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; Council on Cardiovascular Radiology and Intervention; Council on Functional Genomics and Translational Biology; and Stroke Council
[Ti] Título:Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association.
[So] Source:Circulation;136(13):e200-e231, 2017 Sep 26.
[Is] ISSN:1524-4539
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes.
[Mh] Termos MeSH primário: Cardiomiopatias/diagnóstico
Doenças Musculares/diagnóstico
Doenças Neuromusculares/diagnóstico
[Mh] Termos MeSH secundário: American Heart Association
Síndrome de Barth/diagnóstico
Síndrome de Barth/genética
Síndrome de Barth/metabolismo
Síndrome de Barth/patologia
Cardiomiopatias/complicações
Cardiomiopatias/patologia
Ataxia de Friedreich/diagnóstico
Ataxia de Friedreich/metabolismo
Ataxia de Friedreich/patologia
Seres Humanos
Doenças Musculares/metabolismo
Doenças Musculares/patologia
Distrofia Muscular do Cíngulo dos Membros/diagnóstico
Distrofia Muscular do Cíngulo dos Membros/metabolismo
Distrofia Muscular do Cíngulo dos Membros/patologia
Distrofia Muscular de Duchenne/diagnóstico
Distrofia Muscular de Duchenne/metabolismo
Distrofia Muscular de Duchenne/patologia
Distrofia Muscular de Emery-Dreifuss/diagnóstico
Distrofia Muscular de Emery-Dreifuss/metabolismo
Distrofia Muscular de Emery-Dreifuss/patologia
Miopatias Congênitas Estruturais/diagnóstico
Miopatias Congênitas Estruturais/genética
Miopatias Congênitas Estruturais/metabolismo
Miopatias Congênitas Estruturais/patologia
Distrofia Miotônica/diagnóstico
Distrofia Miotônica/metabolismo
Distrofia Miotônica/patologia
Doenças Neuromusculares/complicações
Doenças Neuromusculares/patologia
Fatores de Risco
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; PRACTICE GUIDELINE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170826
[St] Status:MEDLINE
[do] DOI:10.1161/CIR.0000000000000526


  9 / 4355 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28768849
[Au] Autor:Okkersen K; Monckton DG; Le N; Tuladhar AM; Raaphorst J; van Engelen BGM
[Ad] Endereço:From the Department of Neurology (K.O., N.L., A.M.T., J.R., B.G.M.v.E.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; and Institute of Molecular, Cell and Systems Biology (D.G.M.), College of Medical, Veterinary and Life Sciences
[Ti] Título:Brain imaging in myotonic dystrophy type 1: A systematic review.
[So] Source:Neurology;89(9):960-969, 2017 Aug 29.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). METHODS: We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible. RESULTS: In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64-77), compared with 6% (95% CI 3-12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce. CONCLUSIONS: DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Distrofia Miotônica/diagnóstico por imagem
[Mh] Termos MeSH secundário: Encéfalo/fisiopatologia
Seres Humanos
Distrofia Miotônica/fisiopatologia
Neuroimagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004300


  10 / 4355 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28717044
[Au] Autor:Jagannathan S; Bradley RK
[Ad] Endereço:Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
[Ti] Título:Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum.
[So] Source:Genes Dev;31(11):1067-1068, 2017 Jun 01.
[Is] ISSN:1549-5477
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Thomas and colleagues (pp. 1122-1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.
[Mh] Termos MeSH primário: Distrofia Miotônica
RNA
[Mh] Termos MeSH secundário: Processamento Alternativo
Animais
Processamento de RNA
Proteínas de Ligação a RNA/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA-Binding Proteins); 63231-63-0 (RNA)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170719
[St] Status:MEDLINE
[do] DOI:10.1101/gad.302893.117



página 1 de 436 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde