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1.
J Hum Genet ; 59(3): 163-72, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24451228

RESUMO

Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and pyramidal weakness of lower limbs. Because >30 causative genes have been identified, screening of multiple genes is required for establishing molecular diagnosis of individual patients with HSP. To elucidate molecular epidemiology of HSP in the Japanese population, we have conducted mutational analyses of 16 causative genes of HSP (L1CAM, PLP1, ATL1, SPAST, CYP7B1, NIPA1, SPG7, KIAA0196, KIF5A, HSPD1, BSCL2, SPG11, SPG20, SPG21, REEP1 and ZFYVE27) using resequencing microarrays, array-based comparative genomic hybridization and Sanger sequencing. The mutational analysis of 129 Japanese patients revealed 49 mutations in 46 patients, 32 of which were novel. Molecular diagnosis was accomplished for 67.3% (33/49) of autosomal dominant HSP patients. Even among sporadic HSP patients, mutations were identified in 11.1% (7/63) of them. The present study elucidated the molecular epidemiology of HSP in the Japanese population and further broadened the mutational and clinical spectra of HSP.


Assuntos
Povo Asiático/genética , Mutação/genética , Paraplegia Espástica Hereditária/epidemiologia , Paraplegia Espástica Hereditária/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Análise Mutacional de DNA , Demografia , Família , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Dados de Sequência Molecular , Análise de Sequência com Séries de Oligonucleotídeos , Deleção de Sequência/genética , Adulto Jovem
2.
Stroke ; 44(7): 1891-6, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23743976

RESUMO

BACKGROUND AND PURPOSE: Intracranial hemorrhage rates are higher in Asians than non-Asians, especially in patients receiving warfarin. This randomized evaluation of long-term anticoagulation therapy subgroup analysis assessed dabigatran etexilate (DE) and warfarin effects on stroke and bleeding rates in patients from Asian and non-Asian countries. METHODS: There were 2782 patients (15%) from 10 Asian countries and 15 331 patients from 34 non-Asian countries. A Cox regression model, with terms for treatment, region, and their interaction was used. RESULTS: Rates of stroke or systemic embolism in Asians were 3.06% per year on warfarin, 2.50% per year on DE 110 mg BID (DE 110), and 1.39% per year on DE 150 mg BID (DE 150); in non-Asians, the rates were 1.48%, 1.37%, and 1.06% per year with no significant treatment-by-region interactions. Hemorrhagic stroke on warfarin occurred more often in Asians than non-Asians (hazard ratio [HR], 2.4; 95% confidence interval [CI], 1.3-4.7; P=0.007), with significant reductions for DE compared with warfarin in both Asian (DE 110 versus warfarin HR, 0.15; 95% CI, 0.03-0.66 and DE 150 versus warfarin HR, 0.22; 95% CI, 0.06-0.77) and non-Asian (DE 110 versus warfarin HR, 0.37; 95% CI, 0.19-0.72 and DE 150 versus warfarin HR, 0.28; 95% CI, 0.13-0.58) patients. Major bleeding rates in Asians were significantly lower on DE (both doses) than warfarin (warfarin 3.82% per year, DE 110 2.22% per year, and DE 150 2.17% per year). CONCLUSIONS: Hemorrhagic stroke rates were higher on warfarin in Asians versus non-Asians, despite similar blood pressure, younger age, and lower international normalized ratio values. Hemorrhagic strokes were significantly reduced by DE in both Asians and non-Asians. DE benefits were consistent across Asian and non-Asian subgroups. CLINICAL TRIAL REGISTRATION URL: http://www.clinicaltrials.gov. Unique identifier: NCT00262600.


Assuntos
Anticoagulantes/efeitos adversos , Fibrilação Atrial/tratamento farmacológico , Benzimidazóis/efeitos adversos , Hemorragias Intracranianas/etiologia , Piridinas/efeitos adversos , Acidente Vascular Cerebral/etiologia , Varfarina/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Anticoagulantes/administração & dosagem , Antitrombinas/administração & dosagem , Antitrombinas/efeitos adversos , Ásia/epidemiologia , Ásia/etnologia , Povo Asiático/etnologia , Benzimidazóis/administração & dosagem , Isquemia Encefálica/epidemiologia , Isquemia Encefálica/etiologia , Dabigatrana , Feminino , Humanos , Hemorragias Intracranianas/epidemiologia , Masculino , Pessoa de Meia-Idade , Piridinas/administração & dosagem , Acidente Vascular Cerebral/epidemiologia , Varfarina/administração & dosagem
3.
Nat Genet ; 36(3): 225-7, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-14770181

RESUMO

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.


Assuntos
Ataxia Cerebelar/genética , Proteínas Fúngicas/genética , Transtornos da Motilidade Ocular/genética , RNA Helicases/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 9 , DNA Helicases , Humanos , Enzimas Multifuncionais , Mutação , Proteínas de Saccharomyces cerevisiae/genética , alfa-Fetoproteínas/metabolismo
4.
PLoS One ; 18(4): e0284098, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37023115

RESUMO

PURPOSE: To compare the efficacy and invasiveness of manual gonioscopy and automated 360-degree gonioscopy. METHOD: Manual and automated gonioscopy were performed on 70 patients with glaucoma. Manual gonioscopy was performed by a glaucoma specialist and an ophthalmology resident, and automated gonioscopy (GS-1) was performed by orthoptists. We compared the examination time for acquiring gonioscopic images (GS-1: 16 directions; manual gonioscopy: 8 directions). Furthermore, we compared the pain and discomfort scores during the examination using the Individualized Numeric Rating Scale. Among the images acquired by automated gonioscopy, we also evaluated the percentages of acquired images that could be used to determine the angle opening condition. RESULTS: The examination time was not significantly different between manual (80.2±28.7) and automated gonioscopy (94.7±82.8) (p = 0.105). The pain score of automated gonioscopy (0.22±0.59) was significantly lower than that of manual gonioscopy (0.55±1.11) (p = 0.025). The discomfort score was not significantly different between manual (1.34±1.90) and automated gonioscopy (1.06±1.50) (p = 0.165). Automated gonioscopy successfully acquired clear gonioscopic images in 93.4% of the total images. CONCLUSION: Automated gonioscopy is comparable in examination time and invasiveness to manual gonioscopy and may be useful for 360-degree iridocorneal angle evaluation.


Assuntos
Glaucoma de Ângulo Fechado , Glaucoma , Humanos , Gonioscopia , Glaucoma/diagnóstico , Câmara Anterior , Dor , Especialização , Glaucoma de Ângulo Fechado/diagnóstico
5.
J Stroke Cerebrovasc Dis ; 21(2): 143-5, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20851625

RESUMO

Here we report a female patient with elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). At age 71, she developed gait disturbance, followed by memory disturbance 1 year later. She had been treated for hypertension and diabetes mellitus for 19 years. There apparently was low penetrance of disease. Magnetic resonance imaging (MRI) findings showed typical features of CADASIL, and the R607C mutation was detected in exon 11 in NOTCH3. This case strongly indicates that CADASIL should be considered when typical findings are observed on MRI even in cases of elderly onset with multiple cerebrovascular risk factors.


Assuntos
Encéfalo/patologia , CADASIL/diagnóstico , Idoso , CADASIL/complicações , CADASIL/genética , CADASIL/patologia , Análise Mutacional de DNA , Éxons , Feminino , Transtornos Neurológicos da Marcha/etiologia , Humanos , Imageamento por Ressonância Magnética , Transtornos da Memória/etiologia , Mutação , Receptor Notch3 , Receptores Notch/genética , Fatores de Risco
6.
J Neurosci ; 30(14): 4857-67, 2010 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-20371805

RESUMO

Mutations in SPTBN2, the gene encoding beta-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor coordination. How these mutations give rise to progressive ataxia and what the precise role beta-III spectrin plays in normal cerebellar physiology are unknown. We developed a mouse lacking full-length beta-III spectrin and found that homozygous mice reproduced features of SCA5 including gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning). In vivo analysis reveals an age-related reduction in simple spike firing rate in surviving beta-III(-/-) Purkinje cells, whereas in vitro studies show these neurons to have reduced spontaneous firing, smaller sodium currents, and dysregulation of glutamatergic neurotransmission. Our data suggest an early loss of EAAT4- (protein interactor of beta-III spectrin) and a subsequent loss of GLAST-mediated uptake may play a role in neuronal pathology. These findings implicate a loss of beta-III spectrin function in SCA5 pathogenesis and indicate that there are at least two physiological effects of beta-III spectrin loss that underpin a progressive loss of inhibitory cerebellar output, namely an intrinsic Purkinje cell membrane defect due to reduced sodium currents and alterations in glutamate signaling.


Assuntos
Atividade Motora/genética , Células de Purkinje/metabolismo , Células de Purkinje/patologia , Espectrina/deficiência , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/patologia , Potenciais de Ação/genética , Animais , Atrofia/genética , Cerebelo/patologia , Marcha/genética , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Camundongos Transgênicos , Espectrina/genética , Ataxias Espinocerebelares/metabolismo , Ataxias Espinocerebelares/fisiopatologia , Tremor/genética
7.
J Neurosci Res ; 89(4): 576-84, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21312224

RESUMO

TgTauP301L mice that overexpress the mutant human tauP301L present in FTDP-17 reproduce neurofibrillary tangles (NFTs), neuronal cell losses, memory disturbance, and substantial phenotypic variation. To demonstrate factors responsible for NFT formation and neuronal cell losses, sets of TgTauP301L for comparison with or without NFTs and neuronal cell losses were studied with oligonucleotide microarrays. Gene expressions were altered in biological pathways, including oxidative stress, apoptosis, mitochondrial fatty acid betaoxidation, inflammatory response pathway, and complement and coagulation cascade pathways. Among 24 altered genes, increased levels of apolipoprotein D (ApoD) and neuronal PAS domain protein 4 (Npas4) and decreased levels of doublecortin (DCX) and potassium channel, voltage-gated, shaker-related subfamily, ß member 1 (Kcnab1) were found in the TgTauP301L with NFTs and neuronal cell losses, Alzheimer's brains, and tauopathy brains. Thus, many biological pathways and novel molecules are associated with NFT formation and neuronal cell losses in tauopathy brains.


Assuntos
Perfilação da Expressão Gênica , Emaranhados Neurofibrilares/metabolismo , Neurônios/metabolismo , Tauopatias/metabolismo , Idoso , Idoso de 80 Anos ou mais , Animais , Western Blotting , Proteína Duplacortina , Expressão Gênica , Humanos , Camundongos , Camundongos Transgênicos , Emaranhados Neurofibrilares/genética , Emaranhados Neurofibrilares/patologia , Neurônios/patologia , Análise de Sequência com Séries de Oligonucleotídeos , Tauopatias/genética , Tauopatias/patologia
9.
J Neurosci Res ; 88(16): 3547-54, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20936700

RESUMO

In Alzheimer's disease, Aß deposits are considered the initial cardinal events that induce tauopathy secondarily. However, the relationship between Aß amyloidosis and tauopathy has not been determined in detail. We produced double transgenic mice, 2×TgTau(+/-) APP(+/-) , by mating Tg2576 mice that exhibit Aß amyloidosis and TgTauP301L mice that show tauopathy, and statistically analyzed the effect of Aß accumulation on tauopathy. There was no significant difference in theprogression of Aß accumulation among 2×TgTau(+/-) APP(+/-) and 1×TgTau(-/-) APP(+/-) , and tau accumulation among 2×TgTau(+/-) APP(+/-) and 1×Tg Tau(+/-) APP(-/-) . The appearance rates of phosphorylated tau developing in neurons and processes were significantly accelerated in 2×TgTau(+/-) APP(+/-) mice compared with those in 1×TgTau(+/-) APP(-/-) mice at 23 months of age. Accumulation of phosphorylated and confomationally altered tau and GSK3ß in neuronal processes was accelerated in the white matter in 2×TgTau(+/-) APP(+/-) . The level of phosphorylated tau in the sarkosyl-insoluble fraction was increased in 2×TgTau(+/-) APP(+/-) brains compared with that in 1×TgTau(+/-) APP(-/-) brains. Thus, Aß amyloid partially enhances tauopathy through accumulation of insoluble, phosphorylated, and conformationally changed tau in neuronal cytoplasm and processes in the late stage.


Assuntos
Neuropatias Amiloides/metabolismo , Peptídeos beta-Amiloides/metabolismo , Emaranhados Neurofibrilares/metabolismo , Tauopatias/metabolismo , Proteínas tau/metabolismo , Fatores Etários , Neuropatias Amiloides/complicações , Neuropatias Amiloides/patologia , Precursor de Proteína beta-Amiloide/genética , Precursor de Proteína beta-Amiloide/metabolismo , Animais , Encefalopatias/complicações , Encefalopatias/metabolismo , Encefalopatias/patologia , Modelos Animais de Doenças , Estudos Longitudinais , Camundongos , Camundongos Transgênicos , Emaranhados Neurofibrilares/genética , Emaranhados Neurofibrilares/patologia , Neurônios/metabolismo , Neurônios/patologia , Tauopatias/complicações , Tauopatias/patologia , Proteínas tau/genética
10.
J Dermatol ; 46(8): 686-694, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31237727

RESUMO

Risankizumab, a humanized immunoglobulin G1 monoclonal antibody, selectively inhibits interleukin-23, a key cytokine in the pathogenesis of psoriasis, by binding to its p19 subunit. In SustaIMM (ClinicalTrials.gov/NCT03000075), a phase 2/3, double-blinded, placebo-controlled study, Japanese patients with moderate to severe plaque psoriasis (n = 171) were stratified by bodyweight and concomitant psoriatic arthritis and randomized 2:2:1:1 to 75 mg risankizumab, 150 mg risankizumab, placebo with cross-over to 75 mg risankizumab and placebo with cross-over to 150 mg risankizumab. Dosing was at weeks 0, 4, 16, 28 and 40, with placebo cross-over to risankizumab at week 16. The primary end-point was 90% or more improvement from baseline in Psoriasis Area and Severity Index (PASI-90) at week 16 for risankizumab versus placebo. Missing data were imputed as non-response. All primary and psoriasis-related secondary end-points were met for both risankizumab doses (P < 0.001). At week 16, PASI-90 responses were significantly higher in patients receiving 75 mg (76%) or 150 mg (75%) risankizumab versus placebo (2%). Corresponding response rates were 86%, 93% and 10% for static Physician Global Assessment (sPGA) score of clear/almost clear; 90%, 95% and 9% for PASI-75; and 22%, 33% and 0% for PASI-100, with significantly higher responses for both risankizumab doses versus placebo. Through week 52, PASI and sPGA responses increased or were maintained and treatment-emergent adverse events were comparable across treatment groups. Both doses of risankizumab were superior to placebo in treating patients with moderate to severe plaque psoriasis. The safety profile was consistent with previous risankizumab trials, with no new or unexpected safety findings.


Assuntos
Anticorpos Monoclonais/administração & dosagem , Psoríase/tratamento farmacológico , Adulto , Idoso , Anticorpos Monoclonais/efeitos adversos , Estudos Cross-Over , Relação Dose-Resposta a Droga , Método Duplo-Cego , Esquema de Medicação , Feminino , Humanos , Subunidade p19 da Interleucina-23/antagonistas & inibidores , Subunidade p19 da Interleucina-23/imunologia , Japão , Masculino , Pessoa de Meia-Idade , Placebos/administração & dosagem , Placebos/efeitos adversos , Psoríase/diagnóstico , Psoríase/imunologia , Índice de Gravidade de Doença , Resultado do Tratamento
11.
Alzheimers Dement (N Y) ; 5: 398-408, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31517028

RESUMO

INTRODUCTION: Symptomatic anti-Alzheimer's disease (AD) drugs have been commonly used for the treatment of AD. Knowing the natural courses of patients with AD on placebo is highly relevant for clinicians to understand their efficacy and for investigators to design clinical studies. METHODS: The data on rating scales for dementia such as Alzheimer's Disease Assessment Scale-cognitive subscale (ADAS-cog) and Severe Impairment Battery were extracted from eight previous Japanese Phase II and III studies. Natural courses of Japanese AD patients in placebo groups were evaluated and statistically analyzed in a pooled and retrospective fashion. RESULTS: Decreases in ADAS-cog and Severe Impairment Battery was larger at week 22 or 24 than at week 12. Scores of ADAS-cog appeared to deteriorate faster in moderate AD than in mild AD. DISCUSSION: The present data will provide clinicians following up patients with AD with helpful information on how to manage AD patients and investigators with instruction for clinical study design.

12.
Arch Neurol ; 64(10): 1502-8, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17923634

RESUMO

BACKGROUND: Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution. OBJECTIVES: To trace back in history the main mutational events in Machado-Joseph disease, we aimed to assess ancestral haplotypes and population backgrounds, to date the mutations, and to trace the routes and time of introduction of the founder haplotypes in different populations. DESIGN, SETTING, AND PARTICIPANTS: We studied 264 families with Machado-Joseph disease from 20 different populations. Six intragenic single-nucleotide polymorphisms were used to determine ancestral mutational events; 4 flanking short tandem repeats were used to construct extended haplotypes and measure accumulation of genetic diversity over time within each lineage. RESULTS: The worldwide-spread lineage, TTACAC, had its highest diversity in the Japanese population, where we identified the ancestral short tandem repeat-based haplotype. Accumulated variability suggested a postneolithic mutation, about 5774 +/- 1116 years old, with more recent introductions in North America, Germany, France, Portugal, and Brazil. As to the second mutational event, in the GTGGCA lineage, only 7 families (of 71 families) did not have Portuguese ancestry, although gene diversity was again smaller in Portuguese families (0.44) than in non-Portuguese families (0.93). CONCLUSIONS: The worldwide-spread mutation may have first occurred in Asia and later been diffused throughout Europe, with a founder effect accounting for its high prevalence in Portugal; the other Machado-Joseph disease lineage is more recent, about 1416 +/- 434 years old, and its dispersion may be explained mainly by recent Portuguese emigration.


Assuntos
Doença de Machado-Joseph/epidemiologia , Doença de Machado-Joseph/genética , Mutação/fisiologia , Ásia/epidemiologia , Emigração e Imigração , Europa (Continente)/epidemiologia , Efeito Fundador , Haplótipos , Humanos , Japão/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , População , Portugal/epidemiologia , Sequências de Repetição em Tandem/genética
13.
J Neurol Sci ; 252(1): 4-8, 2007 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-17097682

RESUMO

Familial amyloid polyneuropathy (FAP: type IV), known as familial amyloidosis of the Finnish type (FAF), is very rare and reported only in a few countries. The gelsolin mutation G654A is most frequent causative gene in FAF family. The clinical phenotype of FAF possesses several neurological characteristics with multiple cranial nerve signs, in addition to a peculiar exanthema of "lichen amyloidosus" and pendulous skin "cutis laxa", and the carpal tunnel syndrome. We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue. The patients in our family presented with skin changes as "lichen amyloidosus" and "cutis laxa". In this FAF family, lichen amyloidosus appeared under sunlight and high temperatures in the summer season every year. Two patients in our family presented with common clinical features of FAF, except for the above laboratory results. Including previous cases and our family, this clinical phenotype is similar to the gelsolin gene mutation (G654A) in FAF family members.


Assuntos
Neuropatias Amiloides Familiares/genética , Saúde da Família , Gelsolina/genética , Neuropatias Amiloides Familiares/metabolismo , Neuropatias Amiloides Familiares/patologia , Neuropatias Amiloides Familiares/fisiopatologia , Análise Mutacional de DNA/métodos , Feminino , Humanos , Imuno-Histoquímica , Japão , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Mutação/genética , Condução Nervosa/fisiologia , Pele/metabolismo , Pele/patologia
14.
Brain Res ; 1073-1074: 20-4, 2006 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-16443201

RESUMO

Bunina bodies, small eosinophilic intraneuronal inclusions, stain positive for cystatin C and are the only specific pathological hallmark of amyotrophic lateral sclerosis (ALS). We screened the cystatin C gene (CST3) for mutations in 57 sporadic ALS patients and 12 familial ALS cases that did not possess a SOD1 mutation. We detected the known polymorphism in exon 1, a G/A transition at +73, in both familial and sporadic ALS patients. However, the allelic and genotypic frequencies of the +73 G/A polymorphism did not differ between ALS patients and control samples. No other mutation was detected in the ALS patients. The results reported here indicate that there may not be a direct genetic link between cystatin C and ALS, and it may be that deficits occur in proteins that interact with cystatin C.


Assuntos
Esclerose Lateral Amiotrófica/genética , Cistatinas/genética , Saúde da Família , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Cistatina C , Análise Mutacional de DNA/métodos , Feminino , Genótipo , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Mutação , Polimorfismo Genético , Superóxido Dismutase/genética , Superóxido Dismutase-1
16.
Neurobiol Aging ; 23(3): 363-70, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11959397

RESUMO

A large scale multicenter study of cerebrospinal fluid (CSF) tau levels was conducted to determine the cut-off value, sensitivity and specificity for clinical usage as a biomarker of Alzheimer's disease (AD). Its use for early and differential diagnosis and the factors that increase CSF tau levels were also examined. CSF samples from a total of 1,031 subjects including 366 patients with AD, 168 patients with non-Alzheimer type dementia (NA), 316 patients with non-dementia neurological diseases (ND) and 181 normal controls (NC) were measured using ELISA for tau. The cut-off value of tau, 375 pg/ml, showed 59.1% sensitivity and 89.5% specificity for diagnosis of AD compared with the other groups. The tau levels were increased from the early to late stages of AD. Elevation of CSF tau in the non-tauopathy and tauopathy dementia groups, chronic and acute damage to the cerebrum, and meningeal disturbance were other factors that required attention for clinical practice. Measurement of CSF tau was useful as a biomarker for early and differential diagnosis of AD.


Assuntos
Demência/líquido cefalorraquidiano , Proteínas tau/líquido cefalorraquidiano , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/líquido cefalorraquidiano , Envelhecimento/metabolismo , Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/epidemiologia , Análise de Variância , Biomarcadores/líquido cefalorraquidiano , Criança , Demência/epidemiologia , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade
17.
J Glaucoma ; 23(3): 174-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23708423

RESUMO

PURPOSE: The purpose of the study was to evaluate the safety and efficacy of goniosynechialysis (GSL) using an ophthalmic endoscope (OE) and cataract surgery for primary angle-closure glaucoma. DESIGN: The study design includes a retrospective case series. PARTICIPANTS: The medical records of 34 eyes with primary angle-closure glaucoma and cataract were reviewed. METHOD: The method used in the study was GSL using an OE following a cataract surgery. MAIN OUTCOME MEASURES: The main outcome measures were intraocular pressure (IOP), best corrected visual acuity, corneal endothelial cell densities, and perioperative complications. RESULTS: The mean postoperative IOP decreased from 37.7±21.2 to 12.2±2.9 mm Hg. IOP was maintained below 21 mm Hg in all cases without glaucoma medication. No significant intraoperative and postoperative complications occurred. There was no statistically significant difference between the preoperative and postoperative corneal endothelial cell densities. CONCLUSIONS: GSL using OE is an effective and safe surgical procedure.


Assuntos
Córnea/cirurgia , Endoscopia , Glaucoma de Ângulo Fechado/cirurgia , Facoemulsificação , Aderências Teciduais/cirurgia , Malha Trabecular/cirurgia , Idoso , Idoso de 80 Anos ou mais , Humor Aquoso/fisiologia , Feminino , Gonioscopia , Humanos , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tonometria Ocular , Resultado do Tratamento , Acuidade Visual/fisiologia
19.
J Glaucoma ; 22(3): 205-8, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23429629

RESUMO

PURPOSE: To evaluate the outcomes of Trabectome, a surgical device that ablates an arc of trabecular meshwork, in Japanese glaucoma patients. PATIENTS AND METHODS: Trabectome surgeries were performed on 80 eyes of 69 adult Japanese patients (age range, 14 to 89 y; 50 male and 30 female patients) with or without previous surgery or laser treatment. Goldmann applanation intraocular pressure (IOP), adjunctive medications, corneal endothelial cell density, and best corrected visual acuity were measured before and after surgery. Intraoperative and postoperative adverse events were also tabulated. RESULTS: Mean preoperative IOP of 26.6 ± 8.1 mm Hg (range, 16 to 50 mm Hg) decreased to a mean postoperative IOP of 17.4±3.4 mm Hg (range, 9 to 24 mm Hg) (28.7% reduction) by 6 months after surgery (N=53). Adjunctive medication decreased from 4.0 ± 1.4 to 2.3 ± 1.2 at 6 months after surgery. Intraoperative blood reflux occurred in 100% of cases. No vision-threatening complications such as choroidal effusion, choroidal hemorrhage, or infection occurred. Thirteen cases (16.3%) received surgical reintervention and 1 case received cataract extraction during follow-up. No significant endothelial cell density change was recognized. CONCLUSION: Trabectome is an effective and safe alternative to traditional glaucoma surgeries with the expectation of approximately a 30% decrease in IOP through 6 months postoperatively.


Assuntos
Glaucoma de Ângulo Aberto/cirurgia , Malha Trabecular/cirurgia , Trabeculectomia/instrumentação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anti-Hipertensivos/administração & dosagem , Contagem de Células , Perda de Células Endoteliais da Córnea/diagnóstico , Feminino , Humanos , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Acuidade Visual/fisiologia , Adulto Jovem
20.
Intern Med ; 49(22): 2409-14, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21088341

RESUMO

OBJECTIVE: The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. This is the first report on the prevalence of ADCA subtypes in Aomori, Japan. METHODS AND PATIENTS: Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. For only the SCA2 patients (n = 8), the magnetic resonance imaging (MRI) data were analyzed in detail. RESULTS: Spinocerebellar ataxia (SCA) type 6 was often observed (77.7% of cases), with SCA2 (10.6% of cases) being the next most common form. In contrast, only one of the eighty patients had SCA1. Among the 15 sporadic SCA patients, genetic mutations for SCA2, SCA6, SCA17, and SCA31 were identified, indicating that ADCAs should be considered in sporadic cases of ataxia. Furthermore, in SCA2 cases, brainstem atrophy, pontine midline linear hyperintensity, and atrophy of the frontal lobes were frequently observed using MRI. CONCLUSION: The present data indicate that the prevalence of ADCA in Aomori differs from other prefectures in the Tohoku District. MRI findings are very similar between SCA2 and multiple system atrophy (MSA), and thus care must be taken to prevent the misdiagnosis of sporadic SCA2 as MSA.


Assuntos
Ataxia Cerebelar/epidemiologia , Idoso , Ataxia Cerebelar/genética , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência
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