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Biomedical subjects

M Uchino

Publications and source records attributed to M Uchino.

At least 145 records · Page 8Linked to original sources

[A case of cerebral infarction due to dissection in a branch of the middle cerebral artery].

A 65-year-old man developed left drop hand, dysarthria and emotional incontinence. Brain CT and MRI revealed multiple cerebral infarctions in the cortex and subcortical white matter of the right temporal and parietal lobes which were in the distribution of the right middle cerebral artery. Cerebral angiography disclosed segmental narrowing (string sign) and two pseudoaneurysms in the right angular artery which were diagnosed as dissecting aneurysm of a branch of the middle cerebral artery. In this case, cerebral angiography was more useful than MRI in diagnosis of dissecting aneurysm of a branch of the middle cerebral artery. This was a very rare case of dissecting aneurysm of the middle cerebral artery localized in one of its branches.

Aged↗

[A case report of thoracic aortic and common carotid artery dissecting aneurysm diagnosed by duplex ultrasound examination].

A 61-year-old man was admitted to our hospital because of sudden consciousness disturbance, aphasia and right-side hemiparesis. On admission his blood pressure was 124/74mmHg, and his pulse was a regular rate of 46 beats per minute. Electrocardiogram was normal. Thirty minutes after the onset brain computed tomographic (CT) scan showed no abnormality. Fifty minutes after the onset cervical ultrasound examination with color-coded Doppler demonstrated a subintimal dissection with a false channel of the left common carotid artery. Eighty minutes after the onset thoracic CT scan demonstrated the false lumen in ascending and descending thoracic aortic artery. Cervical CT scan showed a dissection with a false channel of the left common carotid artery. We could diagnose him as cerebral infarction due to thoracic aortic and common carotid artery dissection by means of ultrasound examination within 80 minutes after the onset. He spontaneously and fully recovered three days later. We emphasize the usefulness of noninvasive technique such as cervical ultrasound examination with color-coded Doppler in the diagnosis and follow-up of common carotid artery dissection.

Aortic Dissection↗

[Lacunar brain infarction in patients with pseudoxanthoma elasticum].

Brain infarctions in patients with pseudoxanthoma elasticum (PXE) are thought to be associated with the damage of cerebral arteries injured by connective tissue change caused by PXE. We experienced 3 cases of PXE with lacunar brain infarction and evaluated the relationship between the damage of small penetrating arteries and PXE. All patients' diagnosis of PXE were confirmed by histological examination. They were a 47-year-old man and two women with 54 and 62 years of age old. All patients had pseudoxanthoma and angioid streaks and showed pyramidal tract signs. In addition, one patient presented Parkinsonism and another presented involuntary movement of the left lower extremities. None of these cases showed cortical symptoms. Brain CT and MRI revealed multiple lacuna in the areas of penetrating arteries, but their cerebral angiogram were almost normal. Severe small artery diseases, which cannot be attributable only to hypertension, were present. The relationship between such severe small artery disease and damage of the origin of small penetrating arteries caused by PXE was strongly suggested.

Dementia, Multi-Infarct↗

[A case of central pain observed in medical medullary infarction].

A 45-year-old man had typical features of the left medial medullar syndrome which were left tongue paralysis, right hemiparesis, and right disturbance of touch and deep sensation sparing the face. He complained of hyperpathia, numbness and pain of the right body and limb sparing the face. MRI disclosed left upper medial medullary infarction, and cerebral angiography revealed occlusion of the left vertebral artery before the posterior inferior cerebellar artery. In general, the touch and deep sensation are carried through the medial lemniscus located in the medial medulla, therefore central pain is not considered to be induced by the medial medullary lesion. But tingling and numb sensation were sensory symptoms in our patient and the cases previously reported. If spinocervicothalamic tract related to touch and pain sensation has been well developed, it is suspected that central pain is induced by disturbance of the tract.

Cerebral Infarction↗

[Cerebral infarction associated with meningitis].

Among 43 adult patients with meningitis, 8 (18.6%) had cerebral infarction associated with meningitis during their clinical course. The total number of cerebral infarctions was 18. In 4 patients of good outcome (ambulatory in 3 cases and wheelchair in 1 case) with a mean age of 39 years, the number of cerebral infarctions was 1 per patient, and did not increase. In 4 patients of poor outcome (vegetative in 2 cases and died in 2 cases) with a mean age of 68 years, the number of cerebral infarctions was 1 in two cases and 2 in two cases, and later increased in 3 of the cases. Locations of cerebral infarctions were 3 in the striatocapsular lesion, 1 in the posterior limb of internal capsule, 1 in the middle cerebral artery territory, 5 in the tuberothalamic artery territory, 5 in the capsular genu, 1 in the posterior choroidal artery territory, and 2 in the medial striate artery territory. Patients of poor outcome had capsular genu infarction. It was concluded that multiplicity and multiplication of cerebral infarction were markers of the severity of the meningitis.

Adult↗

[The intravascular mobile structure detected by duplex carotid ultrasonography in cardioembolic internal carotid artery occlusion].

We reported that duplex carotid ultrasonography demonstrated specific mobile intravascular mass in four patients with cardiac cerebral embolism. In all cases, duplex carotid ultrasonography clearly showed the presence of a mobile intravascular mass in the carotid artery within 2 days after the onset. In two of four cases, the follow-up duplex carotid ultrasonography showed disappearance of the previously observed "a mobile intravascular mass" 7 days after the onset. In the other two cases, a mobile intravascular mass became stable gradually and changed to non-mobile hyperechoic mass 10 days after the onset. We think that the intravascular mobile structure was probably a thrombus extending from the occlusive part of the internal carotid artery to the proximal side. We suspect that the specific "a mobile intravascular mass" detected by ultrasonography may help to diagnose embolic internal carotid artery occlusion.

Aged↗

[A case of bilateral infarction of medial pontomedullary junction].

A 69-year-old man suffered from dizziness and nausea after work, and was admitted to our hospital on the next day. On admission, he showed bilateral horizontal nystagmus and left hemiparesis. On the 3rd day he vomited frequently, and the dizziness became worse. Bilateral horizontal and upward gaze palsy and bilateral facial nerve palsy were observed. Brain MRI on the 5th day disclosed bilateral upper medial medullary infarction that extended to the pontomedullary junction. Cerebral angiography on the 13th day revealed occlusion of the right vertebral artery. This case did not show typical medial medullary syndrome. The mechanism was unknown, but similar cases were reported. Recently, many cases of medullary infarction are reported with the progress of MRI technology. It is suggested that the addition of the new concepts on the conventional syndromes of medullary infarction is necessary.

Aged↗

Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.

Three patients with familial amyloidotic polyneuropathy (FAP) type I underwent liver transplantation from heart-beating cadaveric donors. Since 2 patients underwent blood transfusion during the operation, variant transthyretin (TTR) levels in the plasma did not decrease time dependently. However, in 1 patient without blood transfusion variant TTR levels decreased in a time dependent manner and plasma half life of variant TTR was calculated to be 2.1 days. Total protein, normal, and variant TTR levels in cerebrospinal fluid (CSF) remained unchanged after liver transplantation.

Adult↗

Secondary amyloidosis with severe autonomic dysfunctions.

A 46-year-old male underwent hemodialysis because of progressed glomerulo-nephritis. Since he suffered from severe diarrhea during the course of the illness, both gastric and colon biopsies were performed. Significant amyloid deposition was recognized in the submucosal layer of these specimen. This amyloid was positive for anti-AA-protein antibody staining and soluble in KMnO4 solution, indicating secondary induced amyloid. Despite of absence of orthostatic hypotension, examinations revealed extreme reduction in tears and salivary secretion, anhidrosis, a decrease in the coefficiency of variation of the cardiographic R-R interval, and a decrease in the accumulation of [123I]meta-iodobenzylguanidine (MIBG) in the heart, suggesting that severe glandular and visceral autonomic dysfunctions had occurred in the patient.

3-Iodobenzylguanidine↗

Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

We sought a relationship between abnormalities of mitochondrial DNA (mtDNA) and muscle pathology in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) at the single fiber level, using histochemistry, in situ hybridization, and single fiber PCR. Most type 1 ragged-red fibers (RRF) showed positive cytochrome c oxidase (COX) activity at the subsarcolemmal region, while type 2 RRF showed little COX activity. However, there was no difference in the amount of total (mutant and wild-type) mtDNAs and the proportion of mutant mtDNA between type 1 RRF and type 2 RRF. These observations suggest that mitochondrial proliferation and nuclear factors affect muscle pathology, including COX activity, in MELAS. Total mtDNAs were greatly increased in RRF. The proportion of mutant mtDNA was significantly higher in RRF than in non-RRF. The amount of both wild-type and mutant mtDNAs was increased in RRF in MELAS, which fact does not support the contention of a replicative advantage of mutant mtDNA. The proportion of mutant mtDNA was significantly higher in the strongly succinate dehydrogenase-reactive blood vessels (SSV) than in non-SSV. The similar morphological behavior in these vessels and fibers suggests that increased mutant mtDNA is responsible for mitochondrial proliferation and dysfunction in both tissues. It seems likely that systemic vascular abnormalities involving cerebral vessels lead to the evolution of strokelike episodes in MELAS.

Arteries↗

Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy.

Single muscle fibers, obtained at autopsy from a 22-year-old man with Duchenne muscular dystrophy were examined immunocytochemically and also using polymerase chain reaction (PCR). Dystrophin-positive cells were widespread in skeletal, cardiac, smooth muscle, and in brain cells. PCR and Southern blot analyses of DNA from peripheral blood lymphocytes revealed a deletion of exon 45 in the dystrophin gene. With PCR of single fibers, three bands corresponding to exons 44, 45, and 47 were present in the normal control muscle fibers and dystrophin-positive fibers from the patient, while only two bands, exons 44 and 47, were observed in dystrophin-negative fibers. Therefore, in this patient, the genotype of dystrophin-positive fibers differed from that of the dystrophin-negative fibers, possibly because of a somatic mosaicism for deletion in the dystrophin gene. A mutation of the dystrophin gene may have occurred in one cell at an early stage of ontogenesis.

Adult↗

A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier.

Histochemical and electron microscopic studies were performed in an attempt to clarify the muscle pathology in an 18-year-old man with Fabry disease, showing proximal limb muscle atrophy, and his 52-year-old mother, who is a Fabry carrier with hypertrophic cardiomyopathy. Despite the relatively mild myopathic changes revealed by histochemistry, electron microscopy demonstrated the widespread accumulation of abundant lamellated bodies in myofibers, associated with increased glycogen granules and autophagic vacuoles. The cardiac muscle of the proband's mother revealed a mosaic pattern of normal-appearing and hypertrophic myofibers containing a number of ring-like, lamellated bodies. Although further studies are necessary to support our findings, skeletal muscle is apparently involved in patients with Fabry disease, and a mosaic pattern of cardiac muscle involvement possibly reflecting Lyonization, may be one of the characteristic findings of a Fabry disease carrier.

Adolescent↗

PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy.

Immunocytochemical studies on serial sections of muscles from 19 patients with Duchenne muscular dystrophy (DMD) were done using seven kinds of antidystrophin antibodies that span dystrophin. Fifteen of the patients were screened for intragenic deletions by the multiplex polymerase chain reaction (PCR); 7 were also tested, using Southern blots. Dystrophin-positive fibers were detected in 10 of the 19 patients, occurring with a frequency of 0.06-75.7%, as clusters or as single fibers in certain muscle bundles. In 7 of the 10 patients, the fibers stained with all antibodies from the N- through the C-terminal region. However, in one patient, there were dystrophin-positive fibers that stained with an N-terminal antibody (DYS-3) and an antibody specific to the rod region (DYS-1), but not with C-terminal antibody (DYS-2). In 2 patients, there were two kinds of fibers: one that did not stain with DYS-1 or DYS-2 and another that stained with all the antibodies used. Single-fiber PCR analysis in 2 patients showed that the genotype of dystrophin-positive fibers differed from that of dystrophin-negative fibers. These results suggest that the majority of dystrophin-positive fibers are of the same clonal origin, but that some are derived from plural reverse mutations, each with a different translation-frame-repairing modality and somatic mosaicism.

Adolescent↗

Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family.

The clinical, genetic, and neuroradiologic characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) are delineated in six patients from three generations of a Japanese family. The clinical characteristics of the disease varied, the age at onset depending on patients with juvenile-onset were characterized by myoclonus, epilepsy, and mental retardation whereas cerebellar ataxia, choreoathetosis, and dementia were typical of adult- and senile-onset patients. All affected individuals showed one expanded allele with the repeat number of CAG at the DRPLA locus, ranging from 58 to 82, and a normal allele, ranging from 10 to 21. The most severely affected patient, a case of maternal transmission and with the largest allele, became bedridden in a vegetative state by age 12. On the CT and MRI, varying degrees of brain atrophy were present in all patients. T2-weighted MRI in patients with senile-onset showed symmetric high-signal lesions in the cerebral white matter, globus pallidus, thalamus, midbrain, and pons. However, MRI in younger patients revealed no such lesions and CT failed to demonstrate lesions in the globus pallidus and brain stem. Thus, intrafamilial heterogeneity of DRPLA was also evident on MRI. High-signal lesions involving both, subcortical white matter and thalamus may be characteristics of senile-onset patients and may correlate with their dementia.

Adult↗

Acquired idiopathic generalized anhidrosis: clinical manifestations and histochemical studies.

A 40-year-old male developed complete absence of sweating except for slight sweating in the axillar region. Histopathologic examination of the skin revealed lymphocytes infiltration around the sweat glands and coarse and irregular arrangement of the eccrine glands. Immunohistochemical staining using anti-CD3, CD4, and CD8 antibodies revealed that CD3 positive cells were dominant in the lesion. After intensive glucocorticoid treatment, generalized sweating was almost completely recovered.

Adult↗

Neurologic features of chronic minamata disease (organic mercury poisoning) and incidence of complications with aging.

To elucidate the neurologic features of chronic Minamata disease, and the incidence of complications with aging, we studied 80 patients with documented Minamata disease (organic mercury poisoning) from 1986 to 1994 (mean age: 63 years). Of the cardinal neurologic findings, sensory impairment was seen with highest frequency in 98.8% of patients limited to the extremities in 86.3%. Impairment of lower extremity coordination was observed in 60%, constriction of the visual field in 51.9%, and retrocochlear hearing loss in 41%. To assess age-related complications, patients were separated into three groups by age: Group I (10 to 39 years); Group II (40 to 69 years); Group III (> or = 70 years). The incidences of hypertension and cerebrovascular diseases, organic ophthalmologic disorders (including cataracts), presbyacusis, and cervical spondylosis deformans increased significantly with age. Compared with a preceding survey (1981 to 1985, 171 patients, mean age: 63.5 years), the incidences of complicated hypertension and cataracts had decreased, whereas those of cerebrovascular disease and retinitis pigmentosa remained unchanged. The incidences of abnormal brain computed tomography (CT), presbyacusis, cervical spondylosis deformans, and positive tests for urine sugar also increased. The incidences of these complications other than retinitis pigmentosa were similar to those in the general population. These results accurately reflect the recent epidemiological disease tendencies in Japan toward a decreased incidence of hypertension and an increased incidence of diabetes.

Adolescent↗