Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 74
Filtrar
1.
J Dermatol ; 50(4): 541-545, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36597170

RESUMO

We present a mild case of Cockayne syndrome that was referred to us with an extreme sunburn at the age of 3. In early teens, although her cutaneous symptoms alleviated without any medications, she developed tremor and dysarthria. Neurological examination and brain imaging suggested demyelination disorders. The patient's cells indicated a reduced recovery of RNA synthesis, which was partially restored by the introduction of CSB (Cockayne Syndrome B)-cDNA. In addition, her cells indicated a substantially reduced level of CSB protein. Despite the insidious progression of neurological symptoms, she gave birth to a child. Such mild cases of Cockayne syndrome may be misdiagnosed.


Assuntos
Síndrome de Cockayne , Reparo do DNA , Humanos , Feminino , Criança , Adolescente , Síndrome de Cockayne/complicações , Síndrome de Cockayne/diagnóstico , Síndrome de Cockayne/genética
2.
Muscle Nerve ; 62(4): 534-540, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32696477

RESUMO

BACKGROUND: In this study, we aimed to investigate the progression of peripheral nervous system involvement in xeroderma pigmentosum group A (XP-A). METHODS: We performed nerve conduction studies in 17 genetically confirmed XP-A patients and conducted follow-ups. Of these patients we also analyzed gray matter volume (GMV) using brain MRI and assessed the severity score of clinical and skin manifestation. RESULTS: We found significant reduction in the motor and sensory nerve action potential amplitude and mild reduction in conduction velocity. These findings were predominant in sensory nerves and the lower limbs, were observed since early childhood, and gradually deteriorated with age. CONCLUSIONS: The electrophysiological characteristics of XP-A patients are consistent with length-dependent axonal polyneuropathy and there is progressive deterioration from early childhood.


Assuntos
Encéfalo/fisiopatologia , Condução Nervosa/fisiologia , Xeroderma Pigmentoso/fisiopatologia , Adolescente , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Progressão da Doença , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de Doença , Xeroderma Pigmentoso/diagnóstico por imagem , Adulto Jovem
3.
Mult Scler Relat Disord ; 35: 272-275, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31442905

RESUMO

OBJECTIVES: Cognitive impairment is a common symptom affecting daily activities of the patients with multiple sclerosis (MS). Various cognitive evaluation tests are available, yet most of them are complex and time-consuming to perform in outpatient clinics. In this study, we aimed to validate a Japanese version of the Guy's Neurological Disability Scale (GNDS) as a user-friendly tool to evaluate comprehensive disabilities in MS including cognitive function. METHODS: Questions of the GNDS were translated into Japanese and named GNDS-J. Forty-four patients were examined by the Expanded Disability Status Scale (EDSS), the Paced Auditory Serial Addition Test (PASAT), the Symbol Digit Modalities Test (SDMT), the vitality scale, and the GNDS-J in the same time at remission state. RESULTS: The GNDS-J scores correlated with the EDSS scores(r = 0.61), and inversely correlated with the PASAT2/1(r=-0.56/-0.49) scores and the SDMT scores (r=-0.68), whereas the GNDS-J did not show any correlation with the vitality scale. Furthermore, eleven patients were evaluated over 5 years for changes in these scores. Eight out of 11 patients had exacerbated GNDS, and all of these patients experienced clinical relapse during this period. CONCLUSION: The GNDS-J is a valid tool to perform in outpatient clinics, which could provide a comprehensive scale for evaluating symptoms of MS, thus the disease activity by repeated measure.


Assuntos
Cognição/fisiologia , Disfunção Cognitiva/diagnóstico , Esclerose Múltipla/complicações , Adulto , Disfunção Cognitiva/etiologia , Avaliação da Deficiência , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Testes Neuropsicológicos , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
5.
J Neurol ; 265(12): 2861-2874, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30269300

RESUMO

OBJECTIVE: To examine the efficacy and safety of the therapeutic regimen using oral and intravenous L-arginine for pediatric and adult patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). METHODS: In the presence and absence of an ictus of stroke-like episodes within 6 h prior to efficacy assessment, we correspondingly conducted the systematic administration of oral and intravenous L-arginine to 15 and 10 patients with MELAS in two, 2-year, prospective, multicenter clinical trials at 10 medical institutions in Japan. Subsequently, patients were followed up for 7 years. The primary endpoint in the clinical trial of oral L-arginine was the MELAS scale, while that for intravenous L-arginine was the improvement rates of headache and nausea/vomiting at 2 h after completion of the initial intravenous administration. The relationships between the ictuses of stroke-like episodes and plasma arginine concentrations were examined. RESULTS: Oral L-arginine extended the interictal phase (p = 0.0625) and decreased the incidence and severity of ictuses. Intravenous L-arginine improved the rates of four major symptoms-headache, nausea/vomiting, impaired consciousness, and visual disturbance. The maximal plasma arginine concentration was 167 µmol/L when an ictus developed. Neither death nor bedriddenness occurred during the 2-year clinical trials, and the latter did not develop during the 7-year follow-up despite the progressively neurodegenerative and eventually life-threatening nature of MELAS. No treatment-related adverse events occurred, and the formulations of L-arginine were well tolerated. CONCLUSIONS: The systematic administration of oral and intravenous L-arginine may be therapeutically beneficial and clinically useful for patients with MELAS.


Assuntos
Arginina/administração & dosagem , Fármacos do Sistema Nervoso Central/administração & dosagem , Síndrome MELAS/tratamento farmacológico , Administração Intravenosa , Administração Oral , Adolescente , Adulto , Arginina/efeitos adversos , Arginina/sangue , Fármacos do Sistema Nervoso Central/efeitos adversos , Fármacos do Sistema Nervoso Central/sangue , Feminino , Seguimentos , Humanos , Síndrome MELAS/sangue , Masculino , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
6.
J Neurol ; 265(3): 552-561, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29356968

RESUMO

There is no reliable objective indicator for upper motor neuron dysfunction in amyotrophic lateral sclerosis (ALS). To determine the clinical significance and potential utility of magnetic resonance (MR) signals, we investigated the relationship between clinical symptoms and susceptibility changes in the motor cortex measured using susceptibility-weighted MR imaging taken by readily available 3-T MRI in clinical practice. Twenty-four ALS patients and 14 control subjects underwent 3-T MR T1-weighted imaging and susceptibility-weighted MR imaging with the principles of echo-shifting with a train of observations (PRESTO) sequence. We analysed relationships between relative susceptibility changes in the motor cortex assessed using voxel-based analysis (VBA) and clinical scores, including upper motor neuron score, ALS functional rating scale revised score, and Medical Research Council sum score on physical examination. Patients with ALS exhibited significantly lower signal intensity in the precentral gyrus on susceptibility-weighted MR imaging compared with controls. Clinical scores were significantly correlated with susceptibility changes. Importantly, the extent of the susceptibility changes in the bilateral precentral gyri was significantly correlated with upper motor neuron scores. The results of our pilot study using VBA indicated that low signal intensity in motor cortex on susceptibility-weighted MR imaging may correspond to clinical symptoms, particularly upper motor neuron dysfunction. Susceptibility-weighted MR imaging may be a useful diagnostic tool as an objective indicator of upper motor neuron dysfunction.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Córtex Motor/diagnóstico por imagem , Idoso , Área Sob a Curva , Feminino , Seguimentos , Lateralidade Funcional , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Exame Físico , Projetos Piloto , Curva ROC , Índice de Gravidade de Doença
7.
eNeurologicalSci ; 6: 74-79, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29260014

RESUMO

OBJECTIVE: Here we investigate the process of neurodegeneration in amyotrophic lateral sclerosis (ALS). The relationship between the cortical field spreading of glucose metabolic decreases in the primary motor cortex (PMC) and the progression of corresponding extremity dysfunction was evaluated using [18F] fluoro-deoxyglucose (FDG)-positron emission tomography (PET). METHODS: Patients with ALS underwent [18F] FDG-PET and the resulting datasets were individually contrasted against healthy controls using the NEUROSTAT software. The extent ratio was defined as the proportion of pixels with a significant Z-score decrease within regions of the primary motor cortex (precentral gyrus or paracentral lobule) opposite to the impaired upper extremities (UEs) or lower extremities (LEs), respectively. Clinical symptoms in all extremities were assessed using an upper motor neuron (UMN) score and the MRC (Medical Research Council) sum score upon physical examination. Cross-sectional correlations were analysed between clinical symptoms, the duration of these symptoms, and the extent ratio. RESULTS: Nineteen regions of the primary motor cortex corresponding to symptomatic limb in 10 participants were evaluated. In the corresponding region of the primary motor cortex, the extent ratio increased (same meaning as hypometabolic area spread) in association with symptom duration (rs = 0.5, p = 0.03). Neither UMN nor lower motor neuron (LMN) scores were correlated with symptom duration. Three out of 19 impaired regions did not show upper motor neuron (UMN) signs upon physical examination. The extent ratio and UMN score-controlled symptom duration were partially correlated (rs = 0.5, p = 0.05). CONCLUSIONS: In patients with ALS, glucose metabolism decreased in the impaired side of the primary motor cortex depending on the clinical symptom progression in the corresponding extremities, regardless of the presence of clinical UMN signs. A decrement in glucose metabolism on FDG-PET corresponding to symptoms in the primary motor cortex might be an indicator of the time-dependent course of ALS neurodegeneration.

8.
J Neurol Sci ; 381: 103-106, 2017 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-28991657

RESUMO

INTRODUCTION: Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation, IVS3-1G>C in XPA, suffer from severe manifestations including progressive brain atrophy since childhood. In this study, we used magnetic resonance imaging (MRI) and applied volumetric analysis to elucidate the start and the progression of the brain atrophy in these patients. MATERIAL AND METHODS: Twelve Japanese patients with XP-A carrying the founder mutation and seven controls were included. MRI was performed for each patient once or more. Three-dimensional T1 weighted images were segmented to gray matter, white matter, and cerebrospinal fluid, and each volume was calculated. RESULTS: Conventional MRI demonstrated progressive whole brain atrophy in patients with XP-A. Moreover, volumetric analysis showed that reductions of total gray matter volumes (GMV) and total brain volumes (TBV) started at the age of five. The slope of reduction was similar in all cases. The GMV and TBV values in controls were higher than those in XP-A cases after the age of five. CONCLUSIONS: This is the first quantitative report presenting with the progression of brain atrophy in patients with XP-A. It is revealed that the brain atrophy started from early childhood in Japanese patients with XP-A carrying the homozygous founder mutation.


Assuntos
Encéfalo/diagnóstico por imagem , Mutação , Proteína de Xeroderma Pigmentoso Grupo A/genética , Xeroderma Pigmentoso/diagnóstico por imagem , Xeroderma Pigmentoso/genética , Adolescente , Atrofia , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Criança , Pré-Escolar , Progressão da Doença , Feminino , Substância Cinzenta/diagnóstico por imagem , Substância Cinzenta/crescimento & desenvolvimento , Substância Cinzenta/patologia , Humanos , Lactente , Japão , Imageamento por Ressonância Magnética , Masculino , Tamanho do Órgão , Fenótipo , Xeroderma Pigmentoso/patologia , Adulto Jovem
9.
Eur Neurol ; 78(5-6): 290-295, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29049993

RESUMO

Recent studies have revealed the clinical, histological, and pathophysiological characteristics in a group of inflammatory myopathies with selected autoantibodies. We retrospectively compared the clinical manifestations and histological features between 8 anti-mitochondrial (anti-M2) antibody-positive and 33 antibody-negative patients. Patients with anti-M2 antibodies have been previously reported to have delayed diagnostic confirmation and frequent cardiopulmonary complications in comparison to those without the antibodies. In our study, clinical characteristics in patients with the antibodies were as follows: lesser degree of limb muscle weakness and atrophy as well as lymphocytic infiltration in muscle biopsy specimens, and frequent paravertebral muscle atrophy. Anti-M2 antibody appeared to be a biomarker related to not only cardiopulmonary complications, but also characteristic -distributions of affected muscles.


Assuntos
Autoanticorpos/imunologia , Proteínas Mitocondriais/imunologia , Músculo Esquelético/patologia , Miosite/imunologia , Miosite/patologia , Adulto , Atrofia/patologia , Biomarcadores/análise , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/imunologia , Estudos Retrospectivos
10.
Neurol Clin Neurosci ; 5(4): 131-133, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28932395

RESUMO

A 40-year-old Japanese woman presented with slowly progressing parkinsonism in adulthood. She had a history of epilepsy with intellectual disability in childhood. In a head magnetic resonance scan, T2-weighted imaging showed low signal intensity areas in the globus pallidus and the substantia nigra; T1-weighted imaging showed a halo in the nigra. Because the patient's symptoms and history were similar to those of patients with neurodegeneration with brain iron accumulation, we ran an exome analysis to investigate neurodegeneration with brain iron accumulation-associated genes. We identified a c.700 C>T (p.Arg 234*) mutation in exon 9 of the WDR45 gene, which had not been reported in Japanese patients with beta-propeller protein-associated neurodegeneration (a neurodegeneration with brain iron accumulation subtype). Sanger sequencing confirmed a heterozygous mutation in this patient that was absent in both her parents, so it was judged to be a de novo nonsense mutation.

11.
Intern Med ; 56(20): 2719-2725, 2017 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-28924104

RESUMO

Objective Post-stroke cognitive impairment often afflicts stroke survivors and is a major obstacle both for cognitive and physical rehabilitation. Stroke risk scores ["Congestive heart failure, Hypertension, Age ≥75 years, Diabetes mellitus, Stroke" (CHADS2) and "CHADS2 + creatinine clearance <60 mL/min" (R2CHADS2)] are used to assess the future risk of cardioembolic stroke in patients with atrial fibrillation (AF). However, congestive heart failure, hypertension, aging, diabetes mellitus, stroke, and renal dysfunction are also risk factors for cognitive impairment. Methods Sixty-two patients with nonvalvular AF-induced cardioembolic stroke underwent cognitive testing, including the Japanese version of the Montreal Cognitive Assessment (MoCA-J), Mini-Mental State Examination (MMSE), and Apathy Scale. The correlations between the MoCA-J/MMSE/Apathy Scale scores and stroke risk scores were examined. Results The average CHADS2 and R2CHADS2 scores were 4.1±1.0 and 5.6±1.6, respectively. The average MoCA-J, MMSE, and Apathy Scale scores were 17.4±6.2, 22.0±5.3, and 20.0±8.9, respectively. The CHADS2 and R2CHADS2 scores were negatively correlated with the MoCA-J/MMSE and positively correlated with the Apathy Scale. The R2CHADS2 score was more sensitive to poststroke cognitive impairment than the CHADS2 score. This correlation was stronger for MoCA-J than for MMSE, as the MMSE scores were skewed toward the higher end of the range. The results for individual MoCA-J and MMSE subtests indicated that the visuoexecutive, calculation, abstraction, and remote recall functions were significantly decreased after cardioembolic stroke. Conclusion These results suggest that the R2CHADS2 and CHADS2 scores are useful for predicting post-stroke cognitive impairment.


Assuntos
Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Acidente Vascular Cerebral/complicações , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Fibrilação Atrial/complicações , Creatinina/sangue , Diabetes Mellitus/epidemiologia , Feminino , Insuficiência Cardíaca/epidemiologia , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Reprodutibilidade dos Testes , Fatores de Risco
12.
J Dermatol ; 44(10): 1087-1096, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28771907

RESUMO

Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease". For this reason, in March 2007, the Japanese Ministry of Health, Labor and Welfare added XP to the neurocutaneous syndromes that are subject to government research initiatives for overcoming intractable diseases. XP is one of the extremely serious photosensitive disorders in which patients easily develop multiple skin cancers if they are not completely protected from ultraviolet radiation. XP patients thus need to be strictly shielded from sunlight throughout their lives, and they often experience idiopathic neurodegenerative complications that markedly reduce the quality of life for both the patients and their families. Hospitals in Japan often see cases of XP as severely photosensitive in children, and as advanced pigmentary disorders of the sun-exposed area with multiple skin cancers in adults (aged in their 20-40s), making XP an important disease to differentiate in everyday clinical practice. It was thus decided that there was a strong need for clinical practice guidelines dedicated to XP. This process led to the creation of new clinical practice guidelines for XP.


Assuntos
Reparo do DNA/efeitos da radiação , Dermatologia/normas , Síndromes Neurocutâneas/prevenção & controle , Neoplasias Cutâneas/prevenção & controle , Pele/efeitos da radiação , Xeroderma Pigmentoso/diagnóstico , Adulto , Criança , Diagnóstico Diferencial , Testes Genéticos , Humanos , Japão , Síndromes Neurocutâneas/etiologia , Assistência ao Paciente/métodos , Prognóstico , Qualidade de Vida , Índice de Gravidade de Doença , Neoplasias Cutâneas/etiologia , Sociedades Médicas/normas , Luz Solar/efeitos adversos , Raios Ultravioleta/efeitos adversos , Xeroderma Pigmentoso/complicações , Xeroderma Pigmentoso/genética , Xeroderma Pigmentoso/terapia
13.
J Neurol Sci ; 377: 1-5, 2017 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-28477674

RESUMO

Spontaneous anterior interosseous nerve (AIN) palsy develops following the resolution of nerve pain, which may be considered as distal neuralgic amyotrophy. NA is assumed to have a complex etiology, but an autoimmune mechanism is likely involved. However, precise assessment of the lesion is challenging. We examined five consecutive patients with suspected spontaneous AIN palsy using ultrasonography. On electromyography, all patients exhibited denervation potentials in the muscles, not only in the AIN territory, but also in the proximal median nerve territory (e.g., the flexor carpi radialis or pronator teres). Ultrasonography of the median nerve demonstrated neural swelling at the proximal side of the medial epicondyle in four patients and an hourglass-like constriction of the nerve fascicle in three patients. Four patients were diagnosed with distal neuralgic amyotrophy; of these, three received intravenous immunoglobulin administration, but only limited beneficial effect was achieved in one patient with early stage disease. One patient showed significant median nerve hypertrophy on ultrasonography and was diagnosed with neurolymphomatosis following the detection of malignant lymphoma during a systemic survey. Our experience demonstrates that ultrasonography for proximal median neuropathy presenting as AIN palsy may be useful for the accurate lesion assessment.


Assuntos
Neurite do Plexo Braquial/diagnóstico por imagem , Neuropatia Mediana/diagnóstico por imagem , Ultrassonografia/métodos , Adulto , Neurite do Plexo Braquial/etiologia , Eletromiografia , Feminino , Humanos , Masculino , Neuropatia Mediana/complicações , Pessoa de Meia-Idade , Neuralgia/etiologia , Tomografia por Emissão de Pósitrons , Estudos Retrospectivos
15.
Intern Med ; 55(21): 3181-3184, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27803416

RESUMO

We herein present two cases of acute disseminated encephalomyelitis (ADEM) following vaccination against human papilloma virus (HPV). Case 1 experienced diplopia and developed an unstable gait 14 days after a second vaccination of Cervarix. Brain magnetic resonance imaging (MRI) showed an isolated small, demyelinating lesion in the pontine tegmentum. Case 2 experienced a fever and limb dysesthesia 16 days after a second vaccination of Gardasil. Brain MRI revealed hyperintense lesion in the pons with slight edema on a T2-weighted image. Both cases resolved completely. It is important to accumulate further data on confirmed cases of ADEM temporally associated with HPV vaccination.


Assuntos
Encefalomielite Aguda Disseminada/diagnóstico , Papillomaviridae/imunologia , Vacinas contra Papillomavirus/efeitos adversos , Adolescente , Diagnóstico Diferencial , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Encefalomielite Aguda Disseminada/etiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Vacinação/efeitos adversos
16.
Exp Dermatol ; 25 Suppl 3: 28-33, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27539899

RESUMO

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease. Patients with XP have severe hypersensitivity to sunlight, resulting in skin cancers, and some patients have neurological symptoms. In Japan, XP complementation group A (XP-A) is the most common form, and it is associated with severe neurological symptoms. We performed a nationwide survey on XP to determine the present status of XP in Japan. The distribution of complementation groups in Japan was considerably different from that in other countries, but there was a higher frequency in group A and the variant type, which is similar to previous reports in Japan. Basal cell carcinoma was the most frequent skin cancer that patients with XP developed, followed by squamous cell carcinoma and malignant melanoma. The frequency of these skin cancers in patients with XP-A has decreased, and these skin cancers have been occurring in much older people than those previously observed. Diagnosing XP in patients at younger ages seems to encourage patients and their parents to use sun protection, which helps prevent skin cancer. We also created a tentative scale for classifying the severity of XP, and we evaluated the neurological symptoms of XP-A using this severity scale. Our classification correlated well with patients' age, suggesting that it may be useful and feasible in clinical practice to assess the progression of symptoms of each patient with XP and evaluate the effects of treatment in the future.


Assuntos
Xeroderma Pigmentoso/classificação , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Avaliação da Deficiência , Feminino , Humanos , Incidência , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Neoplasias Cutâneas/classificação , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/genética , Inquéritos e Questionários , Xeroderma Pigmentoso/epidemiologia , Xeroderma Pigmentoso/genética , Proteína de Xeroderma Pigmentoso Grupo A/genética , Adulto Jovem
17.
J Stroke Cerebrovasc Dis ; 25(9): e131-3, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27444523

RESUMO

Straight sinus thrombosis (SST) is a rare type of cerebral venous sinus thromboses and is extremely difficult to diagnose, especially at its acute stage. The diagnosis is often delayed in many cases of SST that leads to treatment delay and a poor prognosis. We report the case of a 67-year-old patient who had multiple deep white matter (DWM) hyperintense signals on diffusion-weighted imaging (DWI) immediately after the onset of SST. This DWM hyperintense signal on DWI was the only abnormality at the acute stage, the underlying cause of which was congestive cerebral ischemia. Taken together, DWM hyperintense signals on DWI could be a useful diagnostic imaging marker for the early detection of SST.


Assuntos
Imagem de Difusão por Ressonância Magnética , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/etiologia , Trombose dos Seios Intracranianos/complicações , Trombose dos Seios Intracranianos/diagnóstico por imagem , Idoso , Humanos , Masculino
18.
Am J Alzheimers Dis Other Demen ; 31(5): 437-42, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27284205

RESUMO

We investigated vascular functioning in patients with a clinical and radiological diagnosis of either Alzheimer's disease (AD) or vascular dementia (VaD) and examined a possible relationship between vascular function and cognitive status. Twenty-seven patients with AD, 23 patients with VaD, and 26 healthy control patients underwent measurements of flow-mediated dilation (FMD), ankle-brachial index (ABI), cardioankle vascular index (CAVI), and intima-media thickness (IMT). The FMD was significantly lower in patients with AD or VaD compared to controls. There were no significant differences in ABI, CAVI, or IMT among the 3 groups. A significant correlation was found between Mini-Mental State Examination (MMSE) scores and FMD. Furthermore, a multiple regression analysis revealed that FMD was significantly predicted by MMSE scores. These results suggest that endothelial involvement plays a role in AD pathogenesis, and FMD may be more sensitive than other surrogate methods (ABI, CAVI, and IMT) for detecting early-stage atherosclerosis and/or cognitive decline.


Assuntos
Doença de Alzheimer/complicações , Demência Vascular/complicações , Idoso , Índice Tornozelo-Braço , Espessura Intima-Media Carotídea , Feminino , Humanos , Masculino , Entrevista Psiquiátrica Padronizada/estatística & dados numéricos
19.
Photodermatol Photoimmunol Photomed ; 32(4): 174-80, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26993158

RESUMO

BACKGROUND: Most patients with xeroderma pigmentosum complementation group D (XP-D) from Western countries suffer from neurological symptoms, whereas Japanese patients display only skin manifestations without neurological symptoms. We have previously suggested that these differences in clinical manifestations in XP-D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of S541R is highest in Japan. METHODS: We diagnosed a child with mild case of XP-D by the evaluation of DNA repair activity and whole-genome sequencing, and followed her ten years. RESULTS: Skin cancer, mental retardation, and neurological symptoms were not observed. Her minimal erythema dose was 41 mJ/cm(2) , which was slightly lower than that of healthy Japanese volunteers. The patient's cells showed sixfold hypersensitivity to UV in comparison with normal cells. Post-UV unscheduled DNA synthesis was 20.4%, and post-UV recovery of RNA synthesis was 58% of non-irradiated samples, which was lower than that of normal fibroblasts. Genome sequence analysis indicated that the patient harbored a compound heterozygous mutation of c.1621A>C and c.591_594del, resulting in p.S541R and p.Y197* in ERCC2: then, patient was diagnosed with XP-D. Y197* has not been described before. CONCLUSION: Her mild skin manifestations might be attributed to the mutational site on her genome and daily strict sun protection. c.1621A>C might be a founder mutation of ERCC2 among Japanese XP-D patients, as it was identified most frequently in Japanese XP-D patients and it has not been found elsewhere outside Japan.


Assuntos
Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala , Mutação , Proteína Grupo D do Xeroderma Pigmentoso/genética , Xeroderma Pigmentoso , Criança , Feminino , Seguimentos , Humanos , Japão , Xeroderma Pigmentoso/diagnóstico , Xeroderma Pigmentoso/genética , Xeroderma Pigmentoso/patologia , Xeroderma Pigmentoso/fisiopatologia
20.
Muscle Nerve ; 53(4): 522-7, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26357011

RESUMO

INTRODUCTION: Noninvasive evaluation of respiratory function in patients with various neuromuscular disorders is important for predicting life expectancy. METHODS: We performed B-mode ultrasonography (USG) and nerve conduction studies in 37 patients (16 had amyotrophic lateral sclerosis; 11, myopathy; and 10, neuropathy) and 10 controls. USG of the diaphragm was performed in the supine position using a linear probe over the intercostal space at the anterior axillary line. Diaphragm muscle thickness was measured at end-expiration. The amplitude of diaphragm compound muscle action potentials (CMAP) was obtained by phrenic nerve stimulation with a surface electrode. Respiratory function was measured with standard pulmonary function tests including forced vital capacity (FVC). RESULTS: Diaphragm thickness was significantly correlated with FVC (r = 0.74) and CMAP amplitude (r = 0.53). CONCLUSIONS: Diaphragm USG is useful for objective evaluation of pulmonary function in neuromuscular disorders without requiring undue patient effort or cooperation.


Assuntos
Potenciais de Ação/fisiologia , Diafragma/diagnóstico por imagem , Diafragma/fisiologia , Condução Nervosa/fisiologia , Capacidade Vital/fisiologia , Adulto , Idoso , Diafragma/inervação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neuromusculares/diagnóstico por imagem , Doenças Neuromusculares/fisiopatologia , Nervo Frênico/diagnóstico por imagem , Nervo Frênico/fisiologia , Estudos Prospectivos , Ultrassonografia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...