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  1 / 1358 MEDLINE  
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[PMID]:29465562
[Au] Autor:Wang C; Li J
[Ad] Endereço:Department of Neurology & Acupuncture and Moxibustion Centre, Beijing Hospital of Traditional Chinese Medicine Affiliated to Capital Medical University, Beijing.
[Ti] Título:Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.
[So] Source:Medicine (Baltimore);97(8):e9801, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms. PATIENT CONCERNS: A 21-year old Asian male patient demonstrated subacute leukodystrophy and visual-spatial disorders of late onset in adulthood. DIAGNOSES: Phenylketonuria combined with homocysteinmia, who presented with heterozygous mutations in gene encoding PAH p.G247R (c.739G>C) and p.Y204C (c.611A>G), along with homozygous mutation of gene encoding MTHFR c.677C>T. INTERVENTIONS: The patient was treated with cobalamine (500 µg/day), vitamin B6 (30 mg/day), folate (5 mg/day) and encouraged to follow a protein-restricted diet. OUTCOMES: Visual disorientation and cognitive function showed improvement. Head MR showed similar resolution with the original lesion. Serum homocysteine and folate analysis were normal with decreased phenylalanine level. LESSONS: This case suggests that neurological involvement of progressive nervous system dysfunction could be caused by more than one kind of inherited metabolic disturbances, and each one can induce or deteriorate the manifestations of another metabolic disorders.
[Mh] Termos MeSH primário: Hiper-Homocisteinemia/diagnóstico
Leucoencefalopatias/etiologia
Fenilcetonúrias/diagnóstico
Transtornos da Visão/etiologia
[Mh] Termos MeSH secundário: Ácido Fólico/uso terapêutico
Seres Humanos
Hiper-Homocisteinemia/tratamento farmacológico
Hiper-Homocisteinemia/genética
Masculino
Mutação
Fenilcetonúrias/tratamento farmacológico
Fenilcetonúrias/genética
Vitamina B 12/uso terapêutico
Vitamina B 6/uso terapêutico
Complexo Vitamínico B/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
12001-76-2 (Vitamin B Complex); 8059-24-3 (Vitamin B 6); 935E97BOY8 (Folic Acid); P6YC3EG204 (Vitamin B 12)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180222
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009801


  2 / 1358 MEDLINE  
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[PMID]:28469098
[Au] Autor:Fang XJ; Yu M; Wu Y; Zhang ZH; Wang WW; Wang ZX; Yuan Y
[Ad] Endereço:Department of Neurology, Peking University First Hospital, Beijing 100034, China.
[Ti] Título:Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
[So] Source:Chin Med J (Engl);130(9):1042-1048, 2017 May 05.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography (EDI-OCT) to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging (MRI) findings. METHODS: Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First Hospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microbleeds were evaluated. All patients and controls underwent EDI-OCT to measure subfoveal choroidal thickness (SFCT), inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner (AVRin) and outer diameters (AVRout). The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman's correlation was used to investigate the correlation between retinal vessel changes and MRI lesions. RESULTS: In CADASIL patients, mean SFCT (268.37 ± 46.50 µm) and mean arterial inner diameter (93.46 ± 9.70 µm) were significantly lower than that in controls (P < 0.001,P = 0.048, respectively). Mean arterial outer diameter (131.74 ± 10.87 µm), venous inner (128.99 ± 13.62 µm) and outer diameter (164.82 ± 14.77 µm), and mean arterial (19.13 ± 1.85 µm) and venous (17.91 ± 2.76 µm) wall thickness were significantly higher than that in controls (P = 0.023,P = 0.004,P < 0.001,P < 0.001, respectively). Arterial inner diameter (rs= -0.39, P= 0.044), AVRin (rs= -0.65,P < 0.001), and AVRout (rs= -0.56, P= 0.002) showed a negative correlation with the number of small infarcts. Venous inner diameter (rs = 0.46, P= 0.016) showed a positive correlation with the number of small infarcts. Venous inner diameter (rs = 0.59, P= 0.002), outer diameter (rs = 0.47, P= 0.017), showed a positive correlation with the number of cerebral microbleeds (CMBs). AVRin (rs= -0.52, P= 0.007) and AVRout (rs= -0.40, P= 0.048) showed a negative correlation with the number of CMBs. CONCLUSIONS: Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might be a useful evaluation tool for CADASIL patients.
[Mh] Termos MeSH primário: Leucoencefalopatias/patologia
Imagem por Ressonância Magnética/métodos
Tomografia de Coerência Óptica/métodos
[Mh] Termos MeSH secundário: Adulto
Encéfalo/metabolismo
CADASIL
Infarto Cerebral/patologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Mutação
Receptor Notch3/genética
Vasos Retinianos/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptor, Notch3)
[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:170505
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.204935


  3 / 1358 MEDLINE  
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[PMID]:29053821
[Au] Autor:Shamseldin HE; Alasmari A; Salih MA; Samman MM; Mian SA; Alshidi T; Ibrahim N; Hashem M; Faqeih E; Al-Mohanna F; Alkuraya FS
[Ad] Endereço:Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[Ti] Título:A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.
[So] Source:Brain;140(11):2806-2813, 2017 Nov 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mitochondrial calcium homeostasis is a tightly controlled process that is required for a variety of cellular functions. The mitochondrial calcium uniporter complex plays a critical role in this process. MICU2 is a major component of the mitochondrial calcium uniporter complex and its deficiency has been shown to impair mitochondrial calcium [Ca2+]m homeostasis although the exact mechanism remains unclear. We used exome sequencing, positional mapping, and functional characterization of MICU2 deficiency to investigate the role of MICU2 in calcium homeostasis. Using combined autozygome/exome analysis, a homozygous truncating mutation in MICU2 was found to fully segregate with a neurodevelopmental disorder in the form of severe cognitive impairment, spasticity, and white matter involvement in a multiplex consanguineous family. Patient-derived MICU2-deficient cells displayed impaired [Ca2+]m homeostasis, with associated increase in mitochondrial sensitivity to oxidative stress, and abnormal regulation of inner mitochondrial membrane potential. This is the first demonstration of MICU2 deficiency in humans, which we suggest causes a distinct neurodevelopmental phenotype secondary to impaired mitochondrial calcium uniporter-mediated regulation of intracellular calcium homeostasis.
[Mh] Termos MeSH primário: Canais de Cálcio/genética
Cálcio/metabolismo
Disfunção Cognitiva/genética
Leucoencefalopatias/genética
Mitocôndrias/metabolismo
Espasticidade Muscular/genética
Transtornos do Neurodesenvolvimento/genética
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Canais de Cálcio/metabolismo
Estudos de Casos e Controles
Células Cultivadas
Criança
Disfunção Cognitiva/diagnóstico por imagem
Disfunção Cognitiva/metabolismo
Feminino
Fibroblastos/metabolismo
Homeostase
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Leucoencefalopatias/metabolismo
Imagem por Ressonância Magnética
Masculino
Potencial da Membrana Mitocondrial
Espasticidade Muscular/metabolismo
Mutação
Transtornos do Neurodesenvolvimento/diagnóstico por imagem
Transtornos do Neurodesenvolvimento/metabolismo
Estresse Oxidativo
Linhagem
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Irmãos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Calcium Channels); 0 (MICU2 protein, human); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx237


  4 / 1358 MEDLINE  
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[PMID]:29044417
[Au] Autor:Kim M; Lee H; Cho HJ; Young Chun S; Shin JH; Kim EJ; Woo Ahn J; Huh GY; Baek SY; Lee JH
[Ad] Endereço:Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea; Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan, South Korea; School of Electrical and Compute
[Ti] Título:Pathologic Correlation of Paramagnetic White Matter Lesions in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
[So] Source:J Neuropathol Exp Neurol;76(11):924-928, 2017 Nov 01.
[Is] ISSN:1554-6578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:It has been proposed that susceptibility-weighted imaging is a sensitive magnetic resonance imaging (MRI) technique for identifying white matter (WM) pathologic changes involving demyelination and iron accumulation. We identified the tree silhouette-like configuration with a paramagnetic phase shift in the frontal subcortical WM lesions of 4 patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia who underwent 3T MRI. According to our postmortem 7T MRI and histologic correlation study to investigate the origin of the susceptibility-related phase contrast, changes in the subcortical WM architecture and central WM loss with the relative preservation of iron-rich U-fibers may contribute to the paramagnetic susceptibility.
[Mh] Termos MeSH primário: Axônios/patologia
Leucoencefalopatias/patologia
Neuroglia/patologia
Pigmentação
Esferoides Celulares/patologia
Substância Branca/patologia
[Mh] Termos MeSH secundário: Espectroscopia de Ressonância de Spin Eletrônica/métodos
Feminino
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Imagem por Ressonância Magnética/métodos
Masculino
Meia-Idade
Substância Branca/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171019
[St] Status:MEDLINE
[do] DOI:10.1093/jnen/nlx086


  5 / 1358 MEDLINE  
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[PMID]:28969374
[Au] Autor:Dorboz I; Aiello C; Simons C; Stone RT; Niceta M; Elmaleh M; Abuawad M; Doummar D; Bruselles A; Wolf NI; Travaglini L; Boespflug-Tanguy O; Tartaglia M; Vanderver A; Rodriguez D; Bertini E
[Ad] Endereço:INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France, Paris 06, Paris, France.
[Ti] Título:Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
[So] Source:Brain;140(10):2550-2556, 2017 Oct 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a transcription factor regulating multiple developmental processes with a main role in oligodendrocyte differentiation and regulation of myelin-specific gene expression, as the cause underlying a previously unrecognized severe variant of hypomyelinating leukodystrophy. Five affected subjects (three unrelated families) were documented to share biallelic inactivating mutations affecting the NKX6-2 homeobox domain. A trio-based whole exome sequencing analysis in the first family detected a homozygous frameshift change [c.606delinsTA; p.(Lys202Asnfs*?)]. In the second family, homozygosity mapping coupled to whole exome sequencing identified a homozygous nucleotide substitution (c.565G>T) introducing a premature stop codon (p.Glu189*). In the third family, whole exome sequencing established compound heterozygosity for a non-conservative missense change affecting a key residue participating in DNA binding (c.599G>A; p.Arg200Gln) and a nonsense substitution (c.589C>T; p.Gln197*), in both affected siblings. The clinical presentation was homogeneous, with four subjects having severe motor delays, nystagmus and absent head control, and one individual showing gross motor delay at the age of 6 months. All exhibited neuroimaging that was consistent with hypomyelination. These findings define a novel, severe form of leukodystrophy caused by impaired NKX6-2 function.
[Mh] Termos MeSH primário: Genes Homeobox/genética
Proteínas de Homeodomínio/genética
Leucoencefalopatias/genética
Mutação/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Consanguinidade
Análise Mutacional de DNA
Potenciais Evocados Auditivos do Tronco Encefálico
Saúde da Família
Feminino
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Leucoencefalopatias/patologia
Leucoencefalopatias/fisiopatologia
Imagem por Ressonância Magnética
Masculino
Modelos Moleculares
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (NKX6-2 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171004
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx207


  6 / 1358 MEDLINE  
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[PMID]:28963120
[Au] Autor:Duncombe J; Kitamura A; Hase Y; Ihara M; Kalaria RN; Horsburgh K
[Ad] Endereço:Centre for Neuroregeneration, University of Edinburgh, Edinburgh, U.K.
[Ti] Título:Chronic cerebral hypoperfusion: a key mechanism leading to vascular cognitive impairment and dementia. Closing the translational gap between rodent models and human vascular cognitive impairment and dementia.
[So] Source:Clin Sci (Lond);131(19):2451-2468, 2017 Oct 01.
[Is] ISSN:1470-8736
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Increasing evidence suggests that vascular risk factors contribute to neurodegeneration, cognitive impairment and dementia. While there is considerable overlap between features of vascular cognitive impairment and dementia (VCID) and Alzheimer's disease (AD), it appears that cerebral hypoperfusion is the common underlying pathophysiological mechanism which is a major contributor to cognitive decline and degenerative processes leading to dementia. Sustained cerebral hypoperfusion is suggested to be the cause of white matter attenuation, a key feature common to both AD and dementia associated with cerebral small vessel disease (SVD). White matter changes increase the risk for stroke, dementia and disability. A major gap has been the lack of mechanistic insights into the evolution and progress of VCID. However, this gap is closing with the recent refinement of rodent models which replicate chronic cerebral hypoperfusion. In this review, we discuss the relevance and advantages of these models in elucidating the pathogenesis of VCID and explore the interplay between hypoperfusion and the deposition of amyloid ß (Aß) protein, as it relates to AD. We use examples of our recent investigations to illustrate the utility of the model in preclinical testing of candidate drugs and lifestyle factors. We propose that the use of such models is necessary for tackling the urgently needed translational gap from preclinical models to clinical treatments.
[Mh] Termos MeSH primário: Comportamento Animal
Circulação Cerebrovascular
Transtornos Cerebrovasculares/complicações
Transtornos Cognitivos/etiologia
Cognição
Demência Vascular/etiologia
Pesquisa Médica Translacional/métodos
[Mh] Termos MeSH secundário: Peptídeos beta-Amiloides
Animais
Comportamento Animal/efeitos dos fármacos
Encéfalo/metabolismo
Encéfalo/patologia
Encéfalo/fisiopatologia
Transtornos Cerebrovasculares/tratamento farmacológico
Transtornos Cerebrovasculares/fisiopatologia
Transtornos Cerebrovasculares/psicologia
Doença Crônica
Cognição/efeitos dos fármacos
Transtornos Cognitivos/tratamento farmacológico
Transtornos Cognitivos/fisiopatologia
Transtornos Cognitivos/psicologia
Demência Vascular/tratamento farmacológico
Demência Vascular/fisiopatologia
Demência Vascular/psicologia
Modelos Animais de Doenças
Progressão da Doença
Seres Humanos
Leucoencefalopatias/etiologia
Leucoencefalopatias/fisiopatologia
Leucoencefalopatias/psicologia
Placa Amiloide
Fatores de Risco
Especificidade da Espécie
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Amyloid beta-Peptides)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171001
[St] Status:MEDLINE
[do] DOI:10.1042/CS20160727


  7 / 1358 MEDLINE  
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[PMID]:28878046
[Au] Autor:van Leijsen EMC; van Uden IWM; Ghafoorian M; Bergkamp MI; Lohner V; Kooijmans ECM; van der Holst HM; Tuladhar AM; Norris DG; van Dijk EJ; Rutten-Jacobs LCA; Platel B; Klijn CJM; de Leeuw FE
[Ad] Endereço:From the Donders Institute for Brain, Cognition and Behaviour, Centre for Cognitive Neuroscience, Department of Neurology (E.M.C.v.L., I.W.M.v.U., M.I.B., V.L., E.C.M.K., H.M.v.d.H., A.M.T., E.J.v.D., C.J.M.K., F.-E.d.L.), and Diagnostic Image Analysis Group, Department of Radiology and Nuclear Medi
[Ti] Título:Nonlinear temporal dynamics of cerebral small vessel disease: The RUN DMC study.
[So] Source:Neurology;89(15):1569-1577, 2017 Oct 10.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate the temporal dynamics of cerebral small vessel disease (SVD) by 3 consecutive assessments over a period of 9 years, distinguishing progression from regression. METHODS: Changes in SVD markers of 276 participants of the Radboud University Nijmegen Diffusion Tensor and Magnetic Resonance Imaging Cohort (RUN DMC) cohort were assessed at 3 time points over 9 years. We assessed white matter hyperintensities (WMH) volume by semiautomatic segmentation and rated lacunes and microbleeds manually. We categorized baseline WMH severity as mild, moderate, or severe according to the modified Fazekas scale. We performed mixed-effects regression analysis including a quadratic term for increasing age. RESULTS: Mean WMH progression over 9 years was 4.7 mL (0.54 mL/y; interquartile range 0.95-5.5 mL), 20.3% of patients had incident lacunes (2.3%/y), and 18.9% had incident microbleeds (2.2%/y). WMH volume declined in 9.4% of the participants during the first follow-up interval, but only for 1 participant (0.4%) throughout the whole follow-up. Lacunes disappeared in 3.6% and microbleeds in 5.7% of the participants. WMH progression accelerated over time: including a quadratic term for increasing age during follow-up significantly improved the model ( < 0.001). SVD progression was predominantly seen in participants with moderate to severe WMH at baseline compared to those with mild WMH (odds ratio [OR] 35.5, 95% confidence interval [CI] 15.8-80.0, < 0.001 for WMH progression; OR 5.7, 95% CI 2.8-11.2, < 0.001 for incident lacunes; and OR 2.9, 95% CI 1.4-5.9, = 0.003 for incident microbleeds). CONCLUSIONS: SVD progression is nonlinear, accelerating over time, and a highly dynamic process, with progression interrupted by reduction in some, in a population that on average shows progression.
[Mh] Termos MeSH primário: Doenças de Pequenos Vasos Cerebrais
Leucoencefalopatias
Dinâmica não Linear
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Doenças de Pequenos Vasos Cerebrais/complicações
Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem
Doenças de Pequenos Vasos Cerebrais/epidemiologia
Estudos de Coortes
Progressão da Doença
Feminino
Seres Humanos
Processamento de Imagem Assistida por Computador
Leucoencefalopatias/diagnóstico por imagem
Leucoencefalopatias/epidemiologia
Leucoencefalopatias/etiologia
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Fatores de Risco
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170908
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004490


  8 / 1358 MEDLINE  
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[PMID]:28855495
[Au] Autor:Okamoto M; Takeshita J; Takahashi K; Tanaka A; Yoshida K; Kuriyama M
[Ad] Endereço:Department of Neurology, Brain Attack Center Ota Memorial Hospital.
[Ti] Título:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case presented brain calcification and corpus callosum atrophy from over 10 years before the onset of dementia.
[So] Source:Rinsho Shinkeigaku;57(9):521-526, 2017 09 30.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:A 44-year-old man made many mistakes at work over a year. Eleven years prior, he had had medical examination with headache. He presented with symptoms consistent with frontal lobe dysfunction including cognitive decline, and bilateral pyramidal signs. Brain MRI showed cerebral atrophy, localized atrophy of corpus callosum, asymmetrical white matter lesions and multiple cystic lesions. CT images showed bilateral calcifications in the parietal subcortical white matter. Reconstructed sagittal CT images showed bilateral calcifications in the frontal white matter adjacent to the anterior horns of the lateral ventricles, which had a symmetrical "stepping stone appearance" in the frontal pericallosal regions. The brain MRI and CT images performed 11 years prior already showed evidence of similar findings including corpus callosum atrophy, multiple cystic lesions, and calcifications in the parietal subcortical white matter. Similar cystic lesions and calcifications were also observed in the frontal white matter adjacent to the anterior horns of the lateral ventricles However, the changes in the brain associated with atrophy and white matter lesions at this stage were mild. Genetic analysis revealed a novel mutation, p.R782C, in the exon 18 of the colony stimulating factor 1 receptor (CSF1R) gene. The CSF1R gene encodes the colony stimulating factor 1 receptor protein. This mutation was not observed in the patient's parents. Therefore, this mutation is considered to be a de novo mutation. He was diagnosed as having adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
[Mh] Termos MeSH primário: Axônios/patologia
Encefalopatias/patologia
Encéfalo/patologia
Calcinose/patologia
Corpo Caloso/patologia
Leucoencefalopatias/patologia
Neuroglia/patologia
Esferoides Celulares/patologia
[Mh] Termos MeSH secundário: Adulto
Atrofia
Encéfalo/diagnóstico por imagem
Encefalopatias/diagnóstico por imagem
Calcinose/diagnóstico por imagem
Corpo Caloso/diagnóstico por imagem
Diagnóstico Diferencial
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Imagem por Ressonância Magnética
Masculino
Pigmentação
Fatores de Tempo
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[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:170901
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001072


  9 / 1358 MEDLINE  
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[PMID]:28816158
[Au] Autor:Yamamoto M; Serizawa T; Higuchi Y; Sato Y; Kawagishi J; Yamanaka K; Shuto T; Akabane A; Jokura H; Yomo S; Nagano O; Aoyama H
[Ad] Endereço:Katsuta Hospital Mito GammaHouse, Hitachinaka, Japan. Electronic address: BCD06275@nifty.com.
[Ti] Título:A Multi-institutional Prospective Observational Study of Stereotactic Radiosurgery for Patients With Multiple Brain Metastases (JLGK0901 Study Update): Irradiation-related Complications and Long-term Maintenance of Mini-Mental State Examination Scores.
[So] Source:Int J Radiat Oncol Biol Phys;99(1):31-40, 2017 Sep 01.
[Is] ISSN:1879-355X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: The JLGK0901 study showed the noninferiority of stereotactic radiosurgery (SRS) alone as initial treatment of 5 to 10 brain metastases (BMs) compared with 2 to 4 BMs in terms of overall survival and most secondary endpoints (Lancet Oncol 2014;15:387-95). However, observation periods were not long enough to allow confirmation of the long-term safety of SRS alone in patients with 5 to 10 BMs. METHODS AND MATERIALS: This was a prospective observational study of Gamma Knife SRS-treated patients with 1 to 10 newly diagnosed BMs enrolled at 23 facilities between March 1, 2009, and February 15, 2012. RESULTS: The 1194 eligible patients were categorized into the following groups: group A, 1 tumor (n=455); group B, 2 to 4 tumors (n=531); and group C, 5 to 10 tumors (n=208). Cumulative rates of Mini-Mental State Examination (MMSE) score maintenance (MMSE score decrease <3 from baseline) determined with a competing risk analysis of groups A, B, and C were 93%, 91%, and 92%, respectively, at the 12th month after SRS; 91%, 89%, and 91%, respectively, at the 24th month; 89%, 88%, and 89%, respectively, at the 36th month; and 87%, 86%, and 89%, respectively, at the 48th month (hazard ratio [HR] of group A vs group B, 0.719; 95% confidence interval [CI], 0.437-1.172; P=.18; HR of group B vs group C, 1.280; 95% CI, 0.696-2.508; P=.43). During observations ranging from 0.3 to 67.5 months (median, 12.0 months; interquartile range, 5.8-26.5 months), as of December 2014, 145 patients (12.1%) had SRS-induced complications. Cumulative complication incidences by competing risk analysis for groups A, B, and C were 7%, 8%, and 6%, respectively, at the 12th month after SRS; 10%, 11%, and 11%, respectively, at the 24th month; 11%, 11%, and 12%, respectively, at the 36th month; and 12%, 12%, and 13%, respectively, at the 48th month (HR of group A vs group B, 0.850; 95% CI, 0.592-1.220; P=.38; HR of group B vs group C, 1.052; 95% CI, 0.666-1.662, P=.83). Leukoencephalopathy occurred in 12 of the 1074 patients (1.1%) with follow-up magnetic resonance imaging and was detected after salvage whole-brain radiation therapy in 11 of these 12 patients. In these 11 patients, leukoencephalopathy was detected by magnetic resonance imaging 5.2 to 21.2 months (median, 11.0 months; interquartile range, 7.0-14.4 months) after whole-brain radiation therapy. CONCLUSIONS: Neither MMSE score maintenance nor post-SRS complication incidence differed among groups A, B, and C. This longer-term follow-up study further supports the already-reported noninferiority hypothesis of SRS alone for patients with 5 to 10 BMs versus 2 to 4 BMs.
[Mh] Termos MeSH primário: Neoplasias Encefálicas/radioterapia
Neoplasias Encefálicas/secundário
Entrevista Psiquiátrica Padronizada
Radiocirurgia/efeitos adversos
[Mh] Termos MeSH secundário: Idoso
Análise de Variância
Neoplasias Encefálicas/patologia
Neoplasias Encefálicas/psicologia
Feminino
Seguimentos
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Imagem por Ressonância Magnética
Masculino
Entrevista Psiquiátrica Padronizada/estatística & dados numéricos
Meia-Idade
Modelos de Riscos Proporcionais
Estudos Prospectivos
Terapia de Salvação/métodos
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; OBSERVATIONAL STUDY
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE


  10 / 1358 MEDLINE  
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[PMID]:28765289
[Au] Autor:Rutten-Jacobs LCA; Markus HS; UK Young Lacunar Stroke DNA Study
[Ad] Endereço:From the Department of Clinical Neurosciences, Stroke Research Group, University of Cambridge, United Kingdom. lr406@medschl.cam.ac.uk.
[Ti] Título:Vascular Risk Factor Profiles Differ Between Magnetic Resonance Imaging-Defined Subtypes of Younger-Onset Lacunar Stroke.
[So] Source:Stroke;48(9):2405-2411, 2017 Sep.
[Is] ISSN:1524-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Differing associations of vascular risk factors with lacunar infarct have been reported, which is likely because of diagnostic differences and possible heterogeneity in the pathogenesis underlying lacunar infarction. In a large magnetic resonance imaging-verified cohort of lacunar infarct patients, we investigated the risk factor profile of lacunar infarction and magnetic resonance imaging characteristics. METHODS: One thousand twenty-three patients with lacunar infarction (mean age, 56.7; SD, 8.5) were recruited from 72 stroke centers throughout the United Kingdom as part of the UK Young Lacunar Stroke DNA Study. Risk factor profiles were compared with 1961 stroke-free population controls with similar age. Furthermore, we tested risk factor profiles of lacunar stroke patients for association with the presence of multiple lacunar infarcts, white matter hyperintensities (WMH), and location of the acute lacunar infarct. RESULTS: Hypertension (odds ratio [OR], 2.21; 95% confidence interval [CI], 1.85-2.64), diabetes mellitus (OR, 2.10; 95% CI, 1.61-2.73), hyperlipidemia (OR, 1.74; 95% CI, 1.46-2.07), and smoking (OR, 1.65; 95% CI, 1.39-1.96) were independently associated in lacunar infarct patients compared with healthy controls. Patients with multiple lacunar infarcts were more likely to be men (OR, 2.53; 95% CI, 1.81-3.53) and have hypertension (OR, 1.54; 95% CI, 1.12-2.04) compared with patients with a single lacunar infarct, independent of other vascular risk factors. The presence of moderate-to-severe WMH versus no or mild WMH was independently associated with increased age (OR, 1.54; 95% CI, 1.12-2.04), hypertension (OR, 2.06; 95% CI, 1.44-2.95), and impaired renal function (OR, 0.90; 95% CI, 0.82-0.98). CONCLUSIONS: In this magnetic resonance imaging-verified lacunar stroke population, we identified a distinct risk factor profile in the group as a whole. However, there were differing risk factor profiles according to the presence of multiple lacunar infarcts and confluent WMH. The association of hypertension, smoking, and renal impairment with the presence of multiple lacunar infarcts and confluent WMH might reflect a diffuse small vessel arteriopathy.
[Mh] Termos MeSH primário: Diabetes Mellitus/epidemiologia
Hiperlipidemias/epidemiologia
Hipertensão/epidemiologia
Leucoencefalopatias/epidemiologia
Insuficiência Renal Crônica/epidemiologia
Fumar/epidemiologia
Acidente Vascular Cerebral Lacunar/epidemiologia
[Mh] Termos MeSH secundário: Idade de Início
Idoso
Feminino
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Razão de Chances
Fatores de Risco
Índice de Gravidade de Doença
Fatores Sexuais
Acidente Vascular Cerebral Lacunar/diagnóstico por imagem
Reino Unido/epidemiologia
Substância Branca/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.1161/STROKEAHA.117.017813



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