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M Uchino

Publications and source records attributed to M Uchino.

At least 91 records · Page 5Linked to original sources
PubMed1998

Histochemical detection of 4-hydroxynonenal protein in Alzheimer amyloid.

The presence of lipid peroxidation product in amyloid deposits from seven patients with Alzheimer disease and nine with non-Alzheimer disease was examined immunohistochemically by means of an affinity purified anti-HNE antibody to hydroxynonenal (HNE), a marker of lipid peroxidation. A positive reaction was found in amyloid deposits in all the specimens examined: most of the perivascular areas (89%) where amyloid deposition was confirmed by Congo red staining, showed immunoreactivity with the antibody in the specimens of Alzheimer disease. Twenty-one percent of senile plaques which were also stained by Congo red staining reacted with this antibody. Several perivascular cells were also stained by anti-HNE antibody. In other neurons both in Alzheimer and non-Alzheimer disease patients, only a few percent reacted with this antibody and no statistical difference was observed between them. These results verify that lipid peroxidation via free radical injury occurs in amyloid deposits in Alzheimer amyloid. Since HNE has been identified as a cytotoxic metabolite of free radical injury, amyloid deposits in the tissue may exhibit a toxic effect during the generation process of HNE.

Aged↗
PubMed1998

Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.

We describe a 31-year-old Japanese man with adult Sandhoff s disease presenting as spinocerebellar degeneration. There was a marked cerebellar atrophy on MRI, and proliferation of abundant PAS-positive foamy macrophages in the rectal mucosa. The activities of total beta-Hex, beta-Hex A, and beta-Hex B in leucocytes of the patient were 14%, 15%, and 6% of control values, respectively. However, oligosacchariduria or ultrastructural storage materials in liver tissue were nil. Direct sequencing of cDNA and genomic DNA, and restriction digestion revealed two different homozygous base substitutions in the HEXB gene: the G1514-->A substitution (R505Q) and the A619-->G substitution (1207V). The parents were consanguineous. His healthy mother, an enzymatic heterozygous carrier, was homozygous for 1207V, but heterozygous for R505Q mutation. Thus, the patient is probably homozygous for both base substitutions and a R505Q mutation may be linked to the phenotype of adult Sandhoff's disease.

Adult↗
PubMed1998

Visceral orthostatic hypotension in patients with severe autonomic dysfunction.

Although changes in the blood flow of the cerebral vessels and the peripheral vessels in the extremities after changing body postures have been well examined in patients with orthostatic hypotension (OH), such changes in visceral vessels have not been well investigated. To elucidate the effect of autonomic dysfunctions on changes in the abdominal blood flow, the blood flow velocity of the portal vein was measured by Doppler ultrasonography in 11 patients with familial amyloidotic polyneuropathy (FAP) (Met30), 3 with pandysautonomia, 1 with Shy-Drager syndrome, and 10 healthy controls, in the supine and at the upright position. Among the 15 patients with the above-mentioned autonomic disorders, 5 of the patients showed a marked decrease in blood flow after standing, and one of these 5 patients exhibited transient hepatic and intestinal ischemia during intensive rehabilitation because of a severe decrease in visceral blood flow. Another 7 patients exhibited moderate decreases in the blood flow after standing. In contrast, no such change was observed in the 10 healthy controls. The FAP patients with L-threo-3,4-dihydroxyphenylserine (L-threo-DOPS) administration showed no significant correlation between the degree of OH and the decrease in the blood flow of the portal vein, and the patients without the drug exhibited a weak correlation. On the contrary, the pandysautonomia and Shy-Drager syndrome patients exhibited a linear positive correlation. These results suggest that FAP is a disease for which this kind of ultrasonographic examination should be applied, and that Doppler ultrasonography may be a helpful tool to evaluate visceral OH.

Adult↗
PubMed1998

Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers.

We examined two muscle biopsy specimens from a proband and her mother with myoclonus epilepsy with ragged-red fibers (MERRF), both obtained at an interval of about 10 years, using histochemistry, in situ hybridization, and single-fiber polymerase chain reaction. Total (wild-type and mutant) mitochondrial DNAs (mtDNAs) were greatly increased in ragged-red fibers (RRF) over non-RRF in all muscle specimens analyzed. The proportion of mutant mtDNA was also significantly higher in RRF than in non-RRF. By comparing the first and second muscle biopsied specimens in each patient, we found that while the proportion of RRF, cytochrome coxidase deficient fibers, and mutant DNA in muscle changed over a 10-year period, the proportion of wild-type and mutant mtDNAs in RRF and in non-RRF was similar between the two specimens. These results suggest that the ratio of wild-type to mutant mtDNAs in RRF and non-RRF in MERRF is at a steady state level in each muscle fiber, without replicative advantage of mutant mtDNA.

Adult↗
PubMed1998

Oscillating thromboemboli within the extracranial internal carotid artery demonstrated by ultrasonography in patients with acute cardioembolic stroke.

We detected oscillating thromboemboli at the extracranial internal carotid artery (ICA) by duplex carotid ultrasonography in patients with acute cardioembolic stroke. Using B-mode ultrasonography, we evaluated the extracranial ICA in 11 patients with acute cardioembolic ICA occlusion. A homogeneous, elastic, oscillating intraluminal mass echo originating in the extracranial ICA extended distally in 5 (46%) of these patients. The echoes moved quickly and distally during the systolic phase of the cardiac cycle and returned slowly to the original position during the diastolic phase. We performed a postmortem study 24 days after stroke onset in 1 patient with an oscillating intraluminal mass echo that had been demonstrated by duplex ultrasonography. The ICA lumen was obstructed with a fresh string-like thrombus. The findings of oscillating intraluminal mass echo may help establish a diagnosis of acute embolic ICA occlusion.

Acute Disease↗
PubMed1998

Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy.

We investigated two Japanese siblings presenting with oculopharyngodistal myopathy, whose healthy parents were consanguineous. To clarify their disease characteristics, we compared them with four patients with distal myopathy with rimmed vacuoles linked to chromosome 9p1-q1, and 36 patients with oculopharyngeal muscular dystrophy linked to 14q11.2-q13. The first symptom in the patients with autosomal recessive oculopharyngodistal myopathy was weakness of the tibialis anterior muscle. Their biceps muscles showed initial and advanced myogenic changes, with rimmed vacuoles in 3% and 6% of the muscle fibers, respectively. In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared. None of the patients with oculopharyngeal muscular dystrophy showed distal dominant weakness and the occurrence of rimmed vacuoles was rare. Ultrastructural studies in groups of autosomal recessive oculopharyngodistal myopathy and distal myopathy with rimmed vacuoles disclosed a collection of cytoplasmic filaments of 16-18 nm, but oculopharyngeal muscular dystrophy-specific intranuclear inclusions of 8.5 nm were not found. Thus, the phenotype of autosomal recessive oculopharyngodistal myopathy is distinct from distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy, but shares some ultrastructural characteristics with distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Chromosomes, Human, Pair 14↗
PubMed1998

Endoscopic and pathological manifestations of the gastrointestinal tract in familial amyloidotic polyneuropathy type I (Met30).

OBJECTIVES: To evaluate the characteristic changes in the gastrointestinal tract in familial amyloidotic polyneuropathy (FAP) (Met30), both fibre gastroscopy and colonoscopy studies were performed in FAP (Met30) patients. Microscopic changes were also examined in autopsied and biopsied materials from patients with FAP, and compared with data from autopsied samples from patients with AL amyloidosis, and secondary amyloidosis patients. DESIGN: Endoscopic and histopathological study. SETTING: Kumamoto University Hospital, Kumamoto, Japan. SUBJECTS: Nine patients with FAP (Met30) underwent fibre gastroscopy and colonoscopy. Six autopsied and 23 biopsied gastrointestinal samples from FAP patients, four from autopsied amyloidosis (including two myeloma associated form), and two from autopsied secondary amyloidosis patients were examined for histopathological study. MAIN OUTCOME MEASURES: Fibre gastroscopy and colonoscopy were employed for macroscopic study. Congo red and H-E staining were performed for histopathological study. Macroscopic changes in the gastrointestinal tract and microscopic differences in the amyloid distribution pattern were compared between the different types of amyloidosis. RESULTS: Fibre gastroscopy and colonoscopy for nine FAP patients revealed that four showed a fine granular appearance in the duodenum, three showed lack of lustre, and two showed mucosal friability in the gastrointestinal tract; however, no macroscopic abnormality was observed in four other FAP patients. Histopathological examination of tissue from FAP patients revealed that, although a small amount of amyloid was recognized in the submucosa perivascular layer, a significant amount of amyloid was seen in and around the nerves of the gastrointestinal tract, but very little in Auerbach's nerve plexus. In total, the amount of deposited amyloid in the tissues was small compared with that in other types of systemic amyloidosis, such as AL and secondary amyloidosis. CONCLUSION: These results suggest that the major reason why FAP patients show such severe gastrointestinal symptoms, compared with other types of systemic amyloidosis, may be because of the deposition of a significant amount of amyloid in the nerves in the gastrointestinal tract.

Adult↗
PubMed1998

Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds.

OBJECTIVES: We report the results of clinical and genetic studies from 2 related Japanese kindreds with spinocerebellar ataxia type 2 (SCA2). MATERIAL AND METHODS: Family A showed 19 patients through 4 generations, while family B showed 6 patients, including dizygotic twin brothers, through 3 generations. We performed clinical, radiological, neurophysiological, and genetic analyses in the family members. RESULTS: Neurologic analysis of 13 affected patients revealed a mean age at onset of 43.5 years. The most common neurologic finding was cerebellar ataxia with deep sensory disturbance. Slow saccades was found only in the younger patients below age 35 years. Nerve conduction studies revealed subclinical sensory neuropathy. Brain MRI showed the presence of pontocerebellar atrophy. Genetic study using PCR revealed that all affected patients had an expanded CAG allele in the ataxin-2 gene, which led to a final diagnosis of SCA2. CONCLUSION: SCA2 may be more clinically heterogeneous than previously thought. PCR is useful in differentiating SCA2 from other types of inherited ataxia.

Adult↗
PubMed1998

[A survival case of fulminant pneumococcal meningitis as overwhelming postsplenectomy infection (OPSI) syndrome].

A 39-year-old female, who had splenectomy for idiopathic thrombocytopenic purpura (ITP) in 1988, was admitted to our hospital with high fever, headache, and loss of consciousness on November 29,1997. Neck stiffness and Kernig's sign were present. Examination of cerebrospinal fluid showed pleocytosis up to 506 cells/mm3 with 89% of polymorphonuclear cells and elevated protein to 1,135 mg/dl, and absence of glucose, Streptococcus pneumoniae phagocytosis was detected in the fluid. We diagnosed her as having pneumococcal meningitis as overwhelming postsplenectomy infection (OPSI) syndrome. After administration of dexamethasone (8 mg/day), cefotaxime (4 g/day), and ampicillin (6 g/day), she survived without any complications. Splenectomized patients have been recognized as immunocompromized hosts, and carry high morbidity and mortality risk from fulminant bacterial infections. Therefore, emergency treatment is important to reduce high mortality in such infections. We present an adult case of OPSI syndrome which occurred as pneumococcal meningitis, and we would like to emphasize the importance of prompt use of corticosteroids and high dose of sensitive antibiotics before DIC may occur during the course of illness.

Adult↗
PubMed1998

[A case of intracranial tuberculoma followed by MRI].

A 62-year-old woman with pulmonary tuberculosis was admitted to our hospital. She was completely neurologically free at admission and her CSF was normal. Brain MRI with Gd-DTPA enhancement demonstrated two mass lesions with ring-enhancement in the left temporal lobe and the right frontal lobe. The left temporal lesion had a bright central core with hypointense periphery on T2 weighted image. Extended hyperintense area was observed around this lesions, which represented brain edema. On T1 weighted image, the central core was demonstrated hypointense and its periphery was isointense. After starting antituberculous therapy, MRI revealed paradoxical expansion of left temporal lesion and neurological symptoms worsened temporarily, but, eventually the intracranial lesions diminished in size and disappeared, and the symptoms improved. So we diagnosed her as having intracranial tuberculoma. By long-term following up with MRI, we observed that the central core of the left temporal tuberculoma had changed gradually to hypointense on T2 weighted image and hyperintense on T1 weighted image respectively. We thought that the change of the central core on MRI represented organization of caseated necrosis.

Antitubercular Agents↗
PubMed1998

[Asymptomatic cerebral infarction associated with a patent foramen ovale and atrial septal aneurysm].

We reported two young adults (a 42-year-old female and a 45-year-old male) with tension type headache who had a patent foramen ovale and atrial septal aneurysm demonstrated by transesophageal echocardiography, associated with asymptomatic cerebral infarctions. There were multiple subcortical infarctions in the frontal and parietal lobes in case 1, and cerebral infarctions in the right corona radiata, head and body of the caudate nucleus, and putamen in case 2. The two cases did not have hypertension, diabetes mellitus, hyperlipidemia, cardiac diseases detected by electrocardiography and transthoracic echocardiography, and abnormality of intracranial and extracranial arteries by ultrasound sonography and cerebral angiography. Transeosophageal echocardiography revealed atrial septal aneurysm, and showed right-to-left shunt (patent foramen ovale) by Valsalva maneuver. Two cases were diagnosed as paradoxical cerebral embolism associated with a patent foramen ovale. If asymptomatic cerebral infarctions are cryptogenic stroke, a patent foramen ovale and atrial septal aneurysm should be examined by transesophageal echocardiography with Valsalva maneuver.

Adult↗
PubMed1998

[Cerebral embolism with hemiballism due to putaminal lesion].

A 66-year-old man was admitted to our hospital because of hemiballism of his left extremities. The hemiballism disappeared soon after beginning therapy with haloperidol and chlorpromazine. X-ray CT brain scan on day 3 showed infarction in the right putamen and the right parietal lobe. Cerebral angiography on day 9 was normal. Transesophageal echocardiography revealed no abnormality except for an atrial septal aneurysm. Transcranial color-flow imaging demonstrated high intensity transient signal (HITS) with Valsalva maneuver. Paradoxical embolism was, therefore, thought to have caused the patient's brain infarction. It was speculated that the hemiballism was caused by disinhibition of the cortex resulting from loss of negative feedback in the motor system due to the putaminal lesion. It is necessary to treat hemiballism using an appropriate therapy to prevent exacerbation.

Aged↗
PubMed1998

[Etiological studies on 17 cases of retinal artery occlusion and 16 cases of amaurosis fugax].

Here we present etiological studies on 17 patients (12 males, 5 females, mean age 64 +/- 13 years) with central retinal artery occlusion and branch retinal artery occlusion, and 16 patients (8 males, 8 females, mean age 62 +/- 13 years) with amaurosis fugax who were admitted to our hospital between April 1993 and May 1997. In all patients, carotid ultrasonography and cerebral angiography were performed to clarify the extent of carotid artery disease ipsilateral to the retinal artery occlusion and amaurosis fugax. All patients had clinical assessment of cardiac function and electrocardiogram, and most patients had transthoracic echocardiography, and transesophageal echocardiography as they were required. Arterial stenosis over 50% of the diameter, and occlusion of the internal carotid artery ipsilateral to symptomatic eye were more frequent in retinal artery occlusion than in amaurosis fugax. Two patients with retinal artery occlusion had transient atrial fibrillation, and one had patent foramen ovale with atrial septal aneurysm. One patient with amaurosis fugax had transient atrial fibrillation, and another patient had mechanical prosthetic heart valve. Two patients had antiphospholipid antibody, and one had dysfibrinogenemia. We recommended to investigate internal carotid artery in the patients with retinal artery occlusion, because occlusive disease ipsilateral to the symptomatic eye is more frequent and severe in retinal artery occlusion than in the cases of amaurosis fugax.

Aged↗
PubMed1998

[A case of paradoxical brain embolism in a 17-year-old boy].

A 17-year-old healthy high school boy suddenly suffered from consciousness disturbance immediately after a karate match. His neurological findings on admission were consciousness disturbance, motor aphasia, right hemiparesis, and right Babinski reflex. Cerebral angiography showed occlusion of the precentral branch of the left middle cerebral artery, and X-ray CT scan on the second day revealed low density area in its territory. No abnormality was found on transthoracic echocardiography or Holter ECG. Contrast transesophageal echocardiography with Valsalva maneuver was performed twice (the 2nd and the 14th day), and patent foramen ovale (PFO) was found only on the second trial. It was supposed that paradoxical embolism had occurred. Transesophageal echocardiography is necessary for the embolic patients of unknown origin, especially young adults. To find PFO, it is important to repeat contrast transesophageal echocardiography carefully. if it is negative on the first trial.

Adolescent↗
PubMed1998

[Evaluation of transcranial-color flow imaging in detection of right-to-left intracardiac shunts].

We performed transesophageal echocardiography (TEE) and transcranial-color flow imaging (TC-CFI) in 38 patients (25 men, 13 women, mean age 51.5 years old) with cerebrovascular or cardiac disease in order to evaluate an accuracy in diagnosing right-to-left shunts (RLS) in the heart by TC-CFI as compared to TEE findings. We rapidly injected a mixture of 9 ml of cold saline and 1.0 ml of air into the antecubital vein during Valsalva maneuver. In TEE study, we took RLS positive when interatrial shunting of contrast microcavitations into the left atrium was visualized after complete opacification of the right atrium. In TC-CFI study, we considered RLS positive when we detected the high intensity transient signals (HITS) on the middle cerebral artery. The both studies were positive in 15 patients and negative in 19. Two patients were positive in TC-CFI and negative in TEE while the other two patients were negative in TC-CFI and positive in TEE. Therefore, the sensitivity of TC-CFI in diagnosing RLS was 88%, the specificity 90%, and the accuracy 89%. It seems that TC-CFI is a useful tool to estimate the RLS.

Aged↗
PubMed1997

Changes in nitrite and nitrate (NO2-/NO3-) levels in cerebrospinal fluid of patients with multiple sclerosis.

To compare the change in nitric oxide (NO) metabolism in patients with multiple sclerosis (MS) in different clinical stages, such as exacerbation, remission, and 1-2 months after methylpredonisolone administration, we measured the nitrite and nitrate (NO2-/NO3-) levels in the cerebrospinal fluid (CSF). In the extreme stage of MS exacerbation, those levels were remarkably elevated, compared with those both after methylpredonisolone administration and remission. These results suggest that, in addition to MRI study, measurement of NO metabolites in the CSF may give information to help us understand the activity of MS and effect of drugs on the disease.

Adult↗
PubMed1997

Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid.

To detect the variant transthyretin (TTR; Met30) in cerebrospinal fluid (CSF) of familial amyloidotic polyneuropathy (FAP) patients, we have applied a new method using a centrifugal concentrator device and electrospray ionization mass spectrometry (ESI-MS). Only 100 microl of CSF and 30 microl of the antibody for TTR was needed for the analysis. After preparation of the samples with anti-TTR antibody, they were passed through a 1000 kDa cut-off centrifugal concentrator which retained the antibody. By analyzing the obtained filtrate with ESI-MS, three predominant forms of normal and their variant forms of TTR were detected in CSF samples. TTR (Met30), with a molecular weight 32.0 Da higher than the normal form of TTR, was found in all FAP patients' materials. Although the ratio of the three major peaks of TTR were different in each individual, they were always found in CSF and sera. This method will contribute to make a diagnosis of neurologic disorders having a mutant protein in CSF as well as serum.

Adult↗