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Biomedical subjects

M Uchino

Publications and source records attributed to M Uchino.

At least 73 records · Page 4Linked to original sources
PubMed2000

[CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan].

To clarify the characteristics of CADASIL in Japan, we performed clinical and genetic investigations for six patients from 5 Japanese families diagnosed as CADASIL. We identified that the onset of focal neurologic deficits ranged from 38 to 63 years old (mean 49 +/- 9.4 yrs) and the occurrence rates of main neurologic symptoms and signs were 1/6 for migraine, 3/6 for recurrent stroke episodes, 6/6 for dementia, and 4/6 for pseudobulbar palsy. The marked narrowing of retinal arteries were observed in 3/6. The notch 3 mutations were all found in exon 4. Although other several families shared similar phenotype of CADASIL, there were no deposition of granular osmiophilic materials within the basal lamina of smooth muscle cells in the arterioles of biopsied muscle and no mutations in the cording regions of notch 3 gene. We investigated prospectively the incidence of CADASIL and CADASIL-like disease in Kumamoto district from 1999 to 2000. One thousand and thirty four patients with stroke were hospitalized in 6 hospitals which have stroke care unit. Among them, 7 patients fulfilled the criteria that were less than 60 years old, lacunar strokes and/or TIA, presence of a family history, and no risk factors such as hypertension, diabetes mellitus, and hyperlipidemia. One of seven patients was diagnosed as CADASIL by DNA analysis. It was suspected the incidences of CADASIL and CADASIL-like disease were not so rare in Japan.

Cerebral Infarction↗
PubMed1999

Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients.

Since 1990, liver transplantation for familial amyloidotic polyneuropathy (FAP) has been carried out world-wide, and the outcome of the procedure seems to be promising. FAP is inherited systemic disease caused by mutated transthyretin. The most common cause is the valine to methionine substitution at position 30 (Met30). We have developed a scoring system for FAP Met30 that takes into account a variety of clinical symptoms of the disease. Six patients with FAP Met30 underwent extensive examinations according to our scoring system before and after transplantation. All patients survived the procedure and are alive after transplantation. Improvements of sensory and autonomic disturbances were observed during the initial 12 months after the procedure only, thereafter the patients' status remained unchanged. Following transplantation, no improvement of motor function and visceral organ damage were observed, but the modified body mass index improved in four of six patients after the operation. These results suggest that liver transplantation of FAP patients stops the progress of the disease, and that minor improvements are noted in several patients after the procedure. However, transplantation should be performed early after the onset of the disease in order to preserve the patients' functional status.

Adult↗
PubMed1999

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24.

OBJECTIVE: To identify the genetic locus for the familial adult myoclonic epilepsy (FAME) gene. BACKGROUND: Idiopathic generalized epilepsy (IGE) represents a collection of disorders in which affected individuals present with recurring seizures that have diffuse onset on EEG. These individuals have no known structural cerebral lesions or other identifiable etiology. IGE accounts for approximately 40% of all epilepsies. FAME is a type of IGE characterized by autosomal dominant inheritance, adult onset, varying degrees of myoclonus in the limbs, rare tonic-clonic seizures, and a benign course. METHODS: We investigated four previously reported Japanese kindreds and performed a genome-wide screen with genetic linkage analysis. RESULTS: Clinical characterization and sampling of 30 individuals in four families revealed that 21 had the FAME phenotype. We defined a 4.6-cM region on chromosome 8q24 (maximum lod score of 4.86 at theta = 0) that contains the FAME gene. CONCLUSIONS: The identification and characterization of the FAME gene allows us to better understand the molecular basis of FAME. Such knowledge may provide clues to understanding the molecular basis of the clinically similar, and more common, juvenile myoclonic epilepsies, and other generalized seizure disorders that have thus far eluded genetic approaches.

Adult↗
PubMed1999

Encephalopathy caused by visceral larva migrans due to Ascaris suum.

We described a patient with encephalopathy associated with visceral larva migrans (VLM) caused by Ascaris suum. He suffered from drowsiness, quadriparesis, eosinophilia and elevated serum IgE levels. Brain magnetic resonance (MR) imaging revealed multiple cerebral cortical and white matter lesions. Serological tests indicated recent infection with A. suum. Pulse steroid therapy relieved the patient's central nervous system symptoms and marked improvement of lesions on brain MR images. We concluded that the encephalopathy in this patient was probably caused by VLM due to Ascaris suum.

Adult↗
PubMed1999

Atypical phenotype of charcot-marie-tooth disease type 1A.

Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lower extremities and mild weakness in the feet and left hand. Her 61-year-old sister had experienced several episodes of acute paralysis, and neurological examination showed moderate, sensory-dominant polyneuropathy. A reduction of myelinated fibers with many onion-bulb formations were observed in the sural nerve of the proband, and electrophysiological studies showed reduced motor nerve conduction velocities in both sisters. To diagnose CMT1A, we developed a CMT1A duplication test based on detection of CMT1A-specific junction fragments using the long polymerase chain reaction (PCR) method. A 3.3-kb CMT1A-specific junction fragment was detected in both patients, and their neuropathy may therefore have been associated with CMT1A duplication.

Charcot-Marie-Tooth Disease↗
PubMed1999

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.

We investigated the skeletal muscle voltage-gated chloride channel gene (CLCN1) in two unrelated Japanese patients with Becker's myotonia congenita. The non-myotonic parents of each patient were consanguineous. The proband of each family shares generalized myotonia, transient weakness after rest, and leg muscle hypertrophy. However, the disease severity related to the degree of myotonia differed, even in view of the response to long train nerve stimulation tests. CLCN1 gene analysis revealed a novel Ala659Val missense mutation identified to be homozygous in the more severe patient, while a novel Gln445Stop nonsense mutation was present in the other patient. Both mutations were absent in 90 Japanese normal controls. This is the first report of Japanese cases of Becker's myotonia congenita with CLCN1 gene mutations.

Adult↗
PubMed1999

Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met)--comparison of Swedish and Japanese patients.

The aim of the present study was to compare the clinical symptoms of Swedish and Japanese patients with familial amyloidotic polyneuropathy (ATTR Val30Met), especially gastrointestinal disturbances, and to correlate the findings with survival. Seventy-three Swedish and 47 Japanese patients were available for the study. Thirty-two Swedish and 7 Japanese patients had undergone liver transplantation. The mean age at onset was 50 for Swedish and 35 for Japanese patients (P < 0.001; non-transplanted patients). Fifty-five percent of Japanese patients had gastrointestinal disturbances from onset, compared to 22% of Swedish patients (P < 0.05; whole population). The Swedish patients average survival after the onset was significantly longer than Japanese patients (P < 0.05; non-transplanted patients). An early onset of gastrointestinal symptoms was correlated to a decreased survival for Swedish, but not for Japanese patients. Age at onset was not correlated to survival neither for Swedish nor for Japanese patients. We conclude that the clinical expressions of familial amyloidotic polyneuropathy ATTR Val30Met are different in Swedish and Japanese patients. The survival after the onset was shorter for Japanese patients, who also had an earlier onset of gastrointestinal disturbances, especially diarrhea than Swedish patients.

Adolescent↗
PubMed1999

[Unilateral visual field defect due to optic nerve compression by sclerotic internal carotid artery: a case report].

A case of unilateral visual field defect due to optic nerve compression by a sclerotic internal carotid artery was reported. A 71-year-old woman was admitted to our department because of constricted visual field of the right eye. MRI showed elevation of the right optic nerve compressed by an internal carotid artery. The right carotid angiography revealed elevation and distortion of the C1-2 portion. Frontal craniotomy was carried out and the optic nerve was visualized on this side. The right optic nerve was found to have been compressed by the sclerotic internal carotid artery. The optic canal was then unroofed. The post-operative course was uneventful. The visual field was improved. When last seen 6 months after surgery, her visual field remained in the improved condition. Nasal field abnormalities are most frequently encountered in retinal and anterior optic nerve pathology. Our success in improving the visual field disturbance may be accounted for by the fact that the preoperative period was short and the operation was performed before atrophy of ocular fundi occurred. Nasal field loss caused by intracranial lesions of the optic pathway is rare. It is probably impossible to determine degree of the symptomatology caused by direct-pressure compression as opposed to that caused by ischemia secondary to occlusion of small arterial supply branches. Vascular compressive neuropathy of optic nerve should not be diagnosed simply by the radiological finding of the optic nerve dislocation. However, optic nerve compression by surrounding arteries should be remembered as one of the possible causes of visual field defect which needs to be treated surgically.

Aged↗
PubMed1999

[Extraneural metastasis of pineal germinoma through a ventriculoperitoneal shunt, following histological change].

Primary germinoma of the central nervous system carries a good prognosis because of their radiosensitivity. Recurrence is rare and extraneural metastases are even more unusual. We report a unique case of a primary intracranial germinoma exhibiting complete response to radiotherapy, but recurring as an intra-abdominal yolk sac tumor. The presence of a VP shunt is thought to have facilitated metastatic spread of the intracranial neoplasm. An 21-year-old (corrected) male was admitted with headache and consciousness disturbance. Computed tomography (CT) revealed an enhanced tumor of the pineal region and hydrocephalus. A ventriculo-peritoneal shunt was emplaced immediately. No serum tumor markers such as alpha-fetoprotein or human chorionic gonadotropin were detectable. A test dose of radiotherapy (whole brain 20Gy) was given. The tumor size was remarkably decreased. Clinical diagnosis was germinoma. Additional whole brain radiation (total 45Gy) and whole spine radiation (20Gy) were given. The tumor and the hydrocephalus regressed completely and the patient returned to school. Three years later, he experienced a feeling of abdominal fullness. CT and echotomography of the abdomen showed a large peritoneal and intra-hepatic tumor. But MRI revealed no recurrent tumor of the pineal lesion or of the other areas in the central nervous system. Radiological and clinical findings showed no tumors in the testis, the retroperitoneal cavity, or the thymus. Laboratory investigation demonstrated elevated serum AFP (26,550 ng/ml). AFP level regressed after combined chemotherapy. However, the patient died due to pneumonia and multiple organ failure. Only needle necropsy was performed. The microscopic appearance of the peritoneal tumor was confirmed to be an endodermal sinus tumor. It was suspected to be a metastasis of the pineal tumor through the V-P shunt system.

Adult↗
PubMed1999

[The significance of duplex ultrasonography examination in the acute cardioembolic stroke patients--with special attention to evaluation of internal carotid arteries].

The aim of this study is to clarify whether it is possible to diagnose occlusions of internal carotid arteries in the acute cardioembolic stroke patients by observing internal carotid arteries with duplex ultrasonography. Twenty-two consecutive patients underwent both duplex ultrasonography examination and cerebral angiography within 24 hours from the onset. Two cases who had no flow velocity and 8 cases who had systolic flow velocity but no anterograde diastolic flow velocity were all diagnosed as having internal carotid occlusions by cerebral angiography. Eleven of 22 cases who had anterograde diastolic flow velocity were diagnosed as having occlusions at distal side of M 1 portion or no occluded lesions. Besides, among 11 cases who were diagnosed as having occlusions of internal carotid arteries by cerebral angiography, five had end diastolic ratios (ED ratio) of common carotid arteries that were less than 4.0s. It is useful to evaluate the existence of anterograde diastolic flow velocity by duplex ultrasonography for the diagnosis of internal carotid occlusions in the acute cardioembolic stroke patients.

Acute Disease↗
PubMed1999

[Two cases of brain infarction associated with dissection of the thoracic aorta].

Case 1: a 57-year-old woman, who suddenly developed disturbance of consciousness, left spatial neglect, and left hemiparesis, was admitted to our hospital on the day 1. Brain CT scan on the day 2 revealed broad edematous infarction in her middle cerebral artery territory. The dissection of the thoracic aorta was observed with transesophageal echocardiography and brain embolism due to mural thrombus of the dissecting thoracic aorta was suspected. Case 2: a 67-year-old woman, who developed disturbance of consciousness, left spatial neglect, and left hemiparesis, was admitted to our hospital on the day 15. Brain CT scan on the day 15 showed non-edematous infarction in her middle cerebral artery territory. Contrast thoracic CT scan on the day 31 revealed the dissection of the thoracic aorta. No clinical exacerbation was observed, but brain CT scan on the day 94 showed broad infarction in her middle and anterior cerebral artery territories. It is considered that pseudolumen of the dissected thoracic aorta caused occlusion of her right internal carotid artery. Transesophageal echocardiography, or contrast thoracic CT scan should be considered for detection of the dissection of the thoracic aorta in the cases of cryptogenic stroke.

Aged↗
PubMed1999

[A case of acute disseminated encephalomyelitis accompanying Mycoplasma pneumoniae infection].

We report a 30-year-old man with acute disseminated encephalomyelitis (ADEM) accompanying Mycoplasma pneumoniae (M. pneumoniae) infection. He was admitted to our hospital because of headache, disturbed behavior, and unconsciousness following an upper respiratory tract infection on December 19, 1996. On admission, he was febrile (37.3 degrees C) and showed hypersomnia and neck stiffness. There were scattered rhonchi in both lungs. Cerebrospinal fluid (CSF) contained 19 white cells; the protein was 20 mg/dl and glucose 71 mg/dl (blood glucose 170 mg/dl); no organisms were seen or cultured. Cranial MRI showed multiple T 2-weighted hyperintense in the periventricular region of the cerebral white matter. M. pneumoniae antibody titer in serum was remarkably elevated. ADEM related to M. pneumoniae was suspected. Although intravenous methylprednisolone, piperacillin and clindamycin were administered, there was no subsequent improvement in the symptoms. Further MRI scan revealed extension of the inflammatory lesion. He had both pneumonia and he required mechanical ventilation. Since the end of the critical period, he has been in an akinetic mutism. We conclude that M. pneumoniae has to be considered as a possible cause of ADEM with severe respiratory symptoms.

Adult↗
PubMed1999

[Cerebral infarction associated with mobile thoracic ascending aortic thrombus in a patient with essential thrombocythemia].

A 77-year-old man with essential thrombocythemia had embolic stroke associated with mobile thoracic ascending aortic thrombus despite of receiving antiplatelet drug. He had history of toe ulcer and ileus within previous 2 years. He was diagnosed as essential thrombocythemia and received antiplatelet drug. He had consciousness disturbance and admitted to our hospital. Cerebral angiography disclosed emboli in the right middle cerebral artery (M2). Transesophageal echocardiography showed evidence of a mobile thrombus attached to the wall of the ascending aorta at the first day. The thrombus was no longer present after treatment with heparin followed by no recurrent embolic event. We prescribed hydroxyurea for essential thrombocythemia for chronic phase treatment. We consider that with essential thrombocythemia the thrombus of the ascending aorta caused the cerebral infarction. And we succeeded of the treatment of the embolic stroke and prevalence of the emboli with essential thrombocythemia.

Aged↗
PubMed1999

[Neovascular glaucoma following cataract surgery--a case report].

A 75-year-old man suffered from right neovascular glaucoma following ipsilateral cataract surgery. Cerebral angiogram showed occlusion of the right internal carotid artery and the steal phenomenon of right ophthalmic artery. Chronic ocular ischemia caused by carotid occlusion and ophthalmic artery steal phenomenon is one of the decisive risk factors for secondary glaucoma after cataract surgery.

Aged↗
PubMed1999

[A case of brain infarction of lateral geniculate body showing strange formed scotomas].

A 58-year-old woman suddenly noticed that soccer players disappeared and emerged in right inferior portion of her vision while she was watching soccer game on TV. She was admitted in our hospital on the day 9. Goldman perimeter revealed strange formed hemianopic soctomas which located at right side of her both visual fields. Brain MRI scan showed a tiny infarction in left lateral geniculate body. No abnormalities were found on cerebral angiography and 24 hours holter ECG study. Transesophageal echocardiography and transcranial Doppler study showed the presence of intracardiac right-to-left shunting via atrial septum defect. Paradoxical embolism was considered and oral anticoagulation therapy was started. Her visual defect disappeared by the day 79. Strange formed homonymous hemianopic scotomas were attributable to highly localized small lesion in left anterior choroidal artery territory of lateral geniculate body.

Cerebral Infarction↗
PubMed1998

Post-translational modification of transthyretin in plasma.

To determine the behavior of transthyretin (TTR) in blood circulation, TTR purified from normal subjects' plasma was injected to rats, and blood and urine were collected time dependently. Although TTR in plasma was proven to be a predominantly cysteine (Cys) conjugated form by electrospray ionization mass spectrometry (ESI-MS) analysis, it was gradually converted into free, 32 Da (dihydroxylation), 80 Da (phosphorylation), and 306 Da (glutathionylation), increased forms in molecular weight of TTR. The plasma levels of TTR were decreased in a time-dependent manner with the half life of 72.4 min. No secretion of TTR into the urine was observed by ESI-MS. In conclusion, this method can be simply performed without loading a radioactive molecule to the targeted protein. It offers a possibility to determine natural protein behaviors in the blood stream.

Animals↗
PubMed1998

An atypical case of adult Moyamoya disease with initial onset of brain stem ischemia.

We present an atypical case of adult moyamoya disease whose clinical onset consisted of ischemic symptoms of the brain stem. She initially presented with left hemisensory disturbance caused by a pontine lesion, followed by a myelopathy of the upper cervical spinal cord. Eight months later, she presented with left hemiplegia and disturbed consciousness. Magnetic resonance angiography showed significant narrowing of both horizontal portions of the middle cerebral arteries (M1). Conventional angiography revealed bilateral occlusion of the internal carotid arteries. Her anterior circulation was supplied from the vertebro-basilar system through Moyamoya vessels and leptomeningeal collaterals. The intracranial steal phenomenon was thought to be the reason for the preceding events in the brain stem and upper cervical spinal cord. In addition, transcranial color-coded duplex sonography (TCCS) showed identical findings to conventional angiography with antegrade flow in the proximal M1 and retrograde flow in the distal M1. Thus, TCCS was useful for diagnosing the M1 occlusion in this case of Moyamoya disease.

Anastomosis, Surgical↗