RESUMO
REM sleep behavior disorder (RBD) is known to be observed more frequently in patients with an α-synucleinopathy such as Parkinson's disease (PD) than in the general population. The precise prevalence of RBD in Japanese PD patients is not known. Therefore, we investigated the prevalence and the clinical characteristics of patients with RBD in a large population of Japanese patients with PD. We investigated various clinical features and employed the Japanese version of the RBD screening questionnaire on 469 non-demented Japanese PD patients in this multicenter study. Probable or possible RBD was detected in 146 patients (31.1%) and was significantly associated with longer PD duration, higher Hoehn and Yahr stage, higher Unified Parkinson's Disease Rating Scale part III subscale (7 items), more motor fluctuations, and a higher levodopa-equivalent daily dose (p < 0.01). As to the major autonomic dysfunctions, severe constipation was significantly more frequent in PD patients with RBD than in those without it (p < 0.01). The RBD symptoms of 53 patients (39.0%) preceded the onset of PD motor symptoms. The median interval from the onset of RBD symptoms to PD motor symptoms was 17.5 years, and 3 patients had intervals of over 50 years. This large-scale multicenter study revealed that RBD is a frequent non-motor symptom in Japanese patients with PD, which may precede the onset of motor symptoms. Moreover, RBD that increases with the duration and severity of PD may be associated with autonomic dysfunction.
Assuntos
Povo Asiático/etnologia , Programas de Rastreamento/métodos , Doença de Parkinson/diagnóstico , Doença de Parkinson/etnologia , Transtorno do Comportamento do Sono REM/diagnóstico , Transtorno do Comportamento do Sono REM/etnologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Programas de Rastreamento/normas , Pessoa de Meia-Idade , Inquéritos e Questionários/normasRESUMO
A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was conducted, which revealed abnormal accumulation or intracytoplasmic storage of lipid-rich material in the small blood vessels, kidney, heart, and nervous system. After postmortem pathologic studies, including light-microscopic histochemistry, electron microscopy, and biochemical analysis of the stored lipid contents, a final diagnosis of Fabry disease was made. Histopathologic examination revealed a unique vasculopathy characterized by the presence of abnormal intracytoplasmic lipid inclusions and vascular remodeling. With regard to the clinical presentation of acromegaly, hyperplasia but not adenomatous transformation of the acidophils of the anterior pituitary gland with immunohistochemical detection of growth hormone within the cells was noted. In this case, the complication of acromegaly with hyperplasia of the acidophilic cells of the anterior pituitary gland and the unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems, possibly as a result of microcirculatory failure, are considered to be not incidental findings but to be intimately involved in the pathogenesis of Farby disease.
Assuntos
Acromegalia/complicações , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doenças Vasculares/complicações , Acromegalia/patologia , Adulto , Infarto Cerebral/complicações , Infarto Cerebral/diagnóstico , Transtornos Cognitivos/complicações , Transtornos Cognitivos/diagnóstico , Doença de Fabry/patologia , Humanos , Imuno-Histoquímica , Rim/irrigação sanguínea , Rim/patologia , Lipídeos/análise , Pulmão/patologia , Masculino , Microscopia Eletrônica , Miocárdio/patologia , Insuficiência Renal/complicações , Insuficiência Renal/diagnóstico , Doenças Vasculares/patologiaAssuntos
Encéfalo/patologia , Doenças Desmielinizantes/diagnóstico , Imageamento por Ressonância Magnética , Esclerose Múltipla/diagnóstico , Biópsia , Doenças Desmielinizantes/patologia , Diagnóstico Diferencial , Feminino , Humanos , Linfoma/diagnóstico , Espectroscopia de Ressonância Magnética , Pessoa de Meia-Idade , Esclerose Múltipla/patologiaRESUMO
Pure red cell aplasia (PRCA) is well known to be concomitant with myasthenia gravis (MG), but it is difficult to predict the development of PRCA in patients with MG. Of 135 patients with MG, four (2.9%) had PRCA. All patients developed PRCA after thymectomy during a period when MG was in remission. The frequencies of thymoma, bulbar involvement and high anti-acetylcholine receptor (AChR) antibody levels were significantly higher in four patients with PRCA. Japanese MG patients with these characteristics at presentation were at significant risk for the development of PRCA after thymectomy.
Assuntos
Miastenia Gravis/cirurgia , Complicações Pós-Operatórias/etiologia , Aplasia Pura de Série Vermelha/etiologia , Timectomia , Adulto , Idoso , Autoanticorpos/sangue , Feminino , Humanos , Masculino , Miastenia Gravis/imunologia , Complicações Pós-Operatórias/imunologia , Receptores Colinérgicos/imunologia , Aplasia Pura de Série Vermelha/imunologia , Fatores de Risco , Timoma/imunologia , Timoma/cirurgia , Neoplasias do Timo/imunologia , Neoplasias do Timo/cirurgiaRESUMO
In this study we report an individual of Wilson's disease associated with olfactory paranoid syndrome and idiopathic thrombocytopenic purpura. The initial symptom of this female patient was olfactory paranoia at age 17. Although that psychiatric symptom was well controlled under pharmacological treatment for two years, she developed olfactory paranoia as well as sialorrhea, dysarthria and finger tremor at age 20. A year later rigidity was also present in the extremities. At age 23, idiopathic thrombocytopenic purpura was found based on hematological examinations. Because her extrapyramidal symptoms were progressive, she was referred to our department to evaluate her neurologic condition. She was diagnosed as having Wilson's disease based on (1) the presence of Kayser-Fleischer rings, (2) extrapyramidal signs, and (3) a decreased level of serum copper and ceruloplasmin. T2 and FLAIR images of brain MRI showed hyperintense lesions in the putamen, thalamus and pontine tegmentum. Diffusion-weighted images also showed hyperintense lesions in the thalamus and pontine tegmentum. The biopsy specimen of the liver revealed chronic hepatitis with copper accumulation. Since D-penicillamine treatment was initiated, she has shown no olfactory paranoia and exacerbation of ITP. Her gait disturbance has also improved. Olfactory paranoia and ITP are rare clinical complications of Wilson's disease. Further analysis may warrant consideration of the pathophysiological mechanism of the psychiatric, hematological and neuroradiological condition seen in Wilson's disease.
Assuntos
Degeneração Hepatolenticular/complicações , Odorantes , Transtornos Paranoides/etiologia , Púrpura Trombocitopênica Idiopática/etiologia , Adulto , Feminino , Degeneração Hepatolenticular/psicologia , Humanos , Transtornos Paranoides/tratamento farmacológico , Olfato , SíndromeRESUMO
Recently, the functions of several putative neurotransmitters such as catecholmines, acetylcholine (ACh) and neuropeptides have been elucidated in the cerebrovasculature. The interaction of such neurotransmitters and their receptors, however, has not been sufficiently clarified. The purpose of this study is to explore the relation of recently demonstrated neurokinin-1 (NK-1) receptor-containing cerebrovascular nerve fibers with the cerebrovascular vasodilatory nerves by means of the sequential-staining immunohistochemical method. Numerous sites of NK-1 receptor immunoreactivities were noted along the nerve fibers with vasoactive intestinal polypeptide (VIP) immunoreactivity in the pial arteries in all regions of the brain. They consisted of fine, delicate varicose fibers and thick bundles without varicosities. After sequential staining with VIP, NK-1 receptor immunoreactive material was demonstrated in the VIP-positive nerve fibers. The majority of fibers were positive for VIP alone (75%). The number of fibers positive for both NK-1 receptor and VIP was about one-third the number of fibers for VIP alone (22%). Fibers positive for NK-1 receptor alone comprised a small population (3%). This study demonstrated that NK-1 receptors are localized in axonal membrane of VIP-containing parasympathetic nerves. This suggests that the sensory nerves modulate the functions of parasympathetic nerves in peripheral nervous system, such as those on cerebral vessels.