PubMed Health⌕ Search

Biomedical subjects

T Ozawa

Publications and source records attributed to T Ozawa.

At least 19 recordsLinked to original sources

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

The authors report a Japanese patient with hereditary sensory and autonomic neuropathy type 2 (HSAN2) who has a new mutation of the HSN2 gene. The pathologic findings of the patient matched those of Canadian patients. They identified a homozygous 1134-1135 ins T mutation, resulting in a frameshift, and the subsequent premature stop codon at residue 378. These observations support the hypothesis that HSN2 is a causative gene for HSAN2.

Adult↗

Molecular phylogeny suggests polyphyly of both the turban shells (family Turbinidae) and the superfamily Trochoidea (Mollusca: Vetigastropoda).

Bayesian and parsimony phylogenetic analyses of sequence from two nuclear and two mitochondrial genes suggest that neither the molluscan superfamily Trochoidea, nor the family Turbinidae are monophyletic. The family Turbinidae s.l. divides into two main groups. The first group includes taxa previously referred to the five subfamilies Angariinae, Colloniinae, Phasianellinae, Tricoliinae, Gabrieloninae, and the liotiine genus Cinysca; these subfamilies are here recognized as Angariidae, Colloniidae, and Phasianellidae (with subfamilies Phasianellinae, Tricoliinae, and Gabrieloninae). The second group, which corresponds to Turbinidae sensu stricto, includes Prisogasterinae, Turbininae, and the liotiine genus Liotina, all of which are more closely related to trochids than they are to the first group. Several morphological studies have suggested previously that the family Phasianellidae is distinct from Turbinidae. However, this is the first study to suggest that Phasianellidae forms a group with some taxa previously thought of as turbinids, but excluding the nominotypical genus Turbo and its allies. The family Turbinidae has traditionally been described as the only family in the Vetigastropoda group that has a calcified operculum. The non-monophyly of Turbinidae suggests that calcareous opercula may have arisen independently more than once within the Vetigastropoda.

Animals↗

The alpha-synuclein gene in multiple system atrophy.

BACKGROUND: The formation of alpha-synuclein aggregates may be a critical event in the pathogenesis of multiple system atrophy (MSA). However, the role of this gene in the aetiology of MSA is unknown and untested. METHOD: The linkage disequilibrium (LD) structure of the alpha-synuclein gene was established and LD patterns were used to identify a set of tagging single nucleotide polymorphisms (SNPs) that represent 95% of the haplotype diversity across the entire gene. The effect of polymorphisms on the pathological expression of MSA in pathologically confirmed cases was also evaluated. RESULTS AND CONCLUSION: In 253 Gilman probable or definite MSA patients, 457 possible, probable, and definite MSA cases and 1472 controls, a frequency difference for the individual tagging SNPs or tag-defined haplotypes was not detected. No effect was observed of polymorphisms on the pathological expression of MSA in pathologically confirmed cases.

Gene Expression↗

Changes in peripheral leukocytes enzymes activity and plasma metabolite concentrations in growing Holstein calves.

Plasma metabolite and immunoreactive insulin concentrations and activities of enzymes related to energy metabolism in peripheral leukocytes were measured in growing Holstein calves. A ratio of girth of abdomen divided by girth of thorax (A/T ratio) of calves was significantly elevated after weaning, and the A/T ratio maybe a good indicator to evaluate rumen development. Plasma glucose and free fatty acid concentrations were changed in calves accompanying change in feeding. Activities of lactate dehydrogenase with pyruvate as substrate (LDH-P) and hexokinase (HK) in cytosolic fractions of peripheral leukocytes decreased significantly after weaning the calves reflecting the change of energy source from milk replacer with high percentages of fat and glucose and lactose as absorbable carbohydrate to pelleted feed containing starch as less absorbable carbohydrate and roughage. Some peripheral leukocyte enzymes such as LDH and HK may be good indicators to evaluate changes in energy metabolism of growing calves.

Abdomen↗

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.

The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria. We genotyped 507 patients with clinically diagnosed or pathologically proven MSA for FMR1 repeat length. Among the 426 clinically diagnosed cases, we identified four patients carrying FMR1 premutations (0.94%). Within the subgroup of patients with probable MSA-C, three of 76 patients (3.95%) carried premutations. We identified no premutation carriers among 81 patients with pathologically proven MSA and only one carrier among 622 controls (0.16%). Our results suggest that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.

Aged↗

Simultaneous multi-section perfusion CT and CT angiography for the assessment of acute ischemic stroke.

BACKGROUND: Introduction of helical computed tomography (CT) scanning has enabled rapid imaging of the vascular status by means of CT angiography and perfusion CT. By virtue of recent multi-detector technology, helical CT has the ability to perform both CT angiography and multi-section perfusion CT simultaneously. This study investigated the clinical feasibility of simultaneous assessment of perfusion CT and CT angiography in patients with acute ischemic stroke. METHOD: Perfusion CT and CT angiography were performed simultaneously in a series of consecutive 31 acute ischemic stroke patients. The time required for the entire processing was about 15 minutes. Contrast agent was used in a total dose of 100 ml (35 ml for perfusion CT and 65 ml for CT angiography). FINDINGS: Simultaneous perfusion CT scans and CT angiographies were of diagnostic quality for 29 patients (94%). In large territorial infarct patients, perfusion CT could predict all perfusion deficits of the final lesions (10 out of 10 lesions) and CT angiography could detect 9 of 10 occlusions of major cerebral arteries (90%). In patients with small lacunar or subcortical infarcts, perfusion CT could predict 9 out of 19 lesions (47.4%), and false-negative were encountered in small lesions (three patients) or in inadequate coverage of data acquisition (seven patients). Acute stage thrombolytic intervention could be carried out based on the findings, and the success of thrombolytic therapy could be demonstrated by follow-up study. CONCLUSIONS: Simultaneous perfusion CT and CT angiography is the very useful tool for the rapid and adequate diagnosis of almost all of the large territorial infarcts and some of non-territorial lacunar infarcts. It is an easy-to-perform and safe imaging technique to assess acute ischemic stroke.

Acute Disease↗

Arterial stiffness independently predicts cardiovascular events in an elderly community -- Longitudinal Investigation for the Longevity and Aging in Hokkaido County (LILAC) study.

We investigated the predictive value of arterial stiffness to assess cardiovascular risk in elderly community-dwelling people by means of a multivariate Cox model. In 298 people older than 75 years (120 men and 178 women, average age: 79.6 years), brachial-ankle pulse wave velocity (baPWV) was measured between the right arm and ankle in a supine position. The LILAC study started on July 25, 2000, consultation was repeated yearly, and the last follow-up ended on November 30, 2004. During this follow-up span of 1227 days, there were nine cardiovascular deaths, the cause of death being myocardial infarction for two men and three women or stroke for two men and two women. In Cox proportional hazard models, baPWV as well as age, Mini-Mental State Examination (MMSE), Hasegawa Dementia Scale Revised (HDSR) and the low-frequency/high-frequency (LF/HF) ratio showed a statistically significant association with the occurrence of cardiovascular death. A two-point increase in MMSE and HDSR score significantly protected against cardiovascular death, the relative risk (RR) being 0.776 (P = 0.0369) and 0.753 (P = 0.0029), respectively. The LF/HF ratio also was significant (P = 0.025), but the other indices of HRV were not. After adjustment for age and HDSR, a 200 cm/s increase in baPWV was associated with a 30.2% increase in risk (RR = 1.302, 95% CI: 1.110-1.525), and a 500 cm/s increase in baPWV with a 93.3% increase in risk (RR = 1.933, 95% CI: 1.300-2.874, P = 0.0011), whereas the LF/HF ratio was no longer associated with a statistically significant increase in cardiovascular mortality. In elderly community-dwelling people, arterial stiffness measured by means of baPWV predicted the occurrence of cardiovascular death beyond the prediction provided by age, gender, blood pressure and cognitive functions. baPWV should be added to the cardiovascular assessment in various clinical settings, including field medical surveys and preventive screening. The early detection of risk by chronomics allows the timely institution of prophylactic measures, thereby shifting the focus from rehabilitation to prehabilitation medicine, as a public service to several Japanese towns.

Aged↗

Frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes: broadening the clinical picture to include progressive supranuclear palsy.

The frontotemporal lobar degenerations (FTLDs) are a group of disorders in which the clinical picture is not necessarily predictive of the underlying neuropathology. The FTLD with ubiquitin-only-immunoreactive neuronal changes (FTLD-U) subtype is pathologically characterized by ubiquitin-positive, tau and alpha-synuclein-negative neuronal cytoplasmic inclusions in the frontotemporal cortex and hippocampal dentate fascia. When similar pathological changes are accompanied by histological features of motor neuron disease (MND), the term FTLD-MND is used. The latter pathological changes may be found in patients with or without clinical evidence of MND. We retrospectively reviewed the clinical details of three patients with a rapidly progressive, levodopa-unresponsive bradykinetic-rigid syndrome and frontal cognitive impairment. A diagnosis of progressive supranuclear palsy (PSP) had been considered in all three cases at initial presentation. Two of the cases fulfilled clinical diagnostic criteria for PSP, which was the final clinical diagnosis during life. Pathological analysis showed typical histological appearances of FTLD-MND in two cases and of FTLD-U in one case. Semi-quantitative analysis of pathological load seemed to correlate with the clinical phenotype. FTLD-U or FTLD-MND should be considered in the differential diagnosis of progressive frontal dementia with an akinetic rigid syndrome and supranuclear gaze palsy or Steele-Richardson-Olszewski disease.

Aged↗

Spinal neural cyclooxygenase-2 mediates pain caused in a rat model of lumbar disk herniation.

UNLABELLED: Application of nucleus pulposus to nerve root generates radicular pain. We demonstrated that these animals showed allodynia for 2 weeks, and cyclooxygenase-2 (COX-2) immunoreactivities were up-regulated in the spinal dorsal horn. COX-2 immunoreactivities were shown in neurons; however, they were not in astrocytes. Intrathecal administration of an antibody to COX-2 decreased allodynia. Our results suggest that COX-2 in spinal cord might be a target for treatment of patients with nerve root pain caused by lumbar disk herniation. PERSPECTIVE: Neural COX-2 might mediate nerve root pain in the spinal cord caused by lumbar disk herniation in rats.

Animals↗

Frontotemporal lobar degeneration and ubiquitin immunohistochemistry.

We set out to determine the frequency of the different pathologies underlying frontotemporal degeneration (FTD) in our brain bank series, by reviewing all cases of pathologically diagnosed FTD over the last 12 years. We identified and reviewed 29 cases of FTD and classified them using the most recent consensus criteria with further histological analysis of 6 initially unclassifiable cases. Detailed histological analysis of these 6 cases revealed variable numbers of ubiquitin-positive (tau and alpha-synuclein-negative) inclusions in 5 cases, consistent with the diagnosis of frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes (FTLD-U). As a consequence of the current re-evaluation, 18 (62%) of the 29 cases with FTD have underlying pathology consistent with FTLD-U. Therefore in our brain bank series of frontotemporal degeneration, most cases were non-tauopathies with FTLD-U accounting for 62% of all the diagnoses.

Aged↗

Tuberculous abdominal aortic pseudoaneurysm penetrating the left psoas muscle after BCG therapy for bladder cancer.

We describe a case of a 75-year-old man with abdominal aortic and right femoral tuberculous pseudoaneurysms 32 months after intravesical bacillus Calmette-Guerin therapy for bladder cancer. These aneurysms were probably brought on by systemic infection by Mycobacterium bovis. The infrarenal aorta and right common femoral artery were successfully replaced with an in situ expanded polytetrafluoroethylene graft. Tuberculous pseudoaneurysm after bacillus Calmette-Guerin therapy for malignancy is very rare, and we review the related literature.

Aged↗

Cerebellar infarction secondary to os odontoideum.

A 43-year-old man developed cerebellar infarction due to atlantoaxial dislocation associated with os odontoideum. Cervical X-ray films confirmed os odontoideum, and conventional angiography revealed irregular narrowing of the right vertebral artery at the axis level. A correlation between the vertebral artery lesion and atlantoaxial instability was shown with 3-dimensional (3-D) computed tomographic (CT) angiography. This is the first case of atlantoaxial dislocation with vertebral artery stenosis demonstrated 3-D CT angiography. 3-D CT angiography can support the conventional angiography with respect to the diagnosis and management of vertebral artery insufficiency associated with occipitocervical deformity.

Adult↗

[Off-pump coronary artery bypass grafting for severe acute coronary syndrome].

UNLABELLED: Off-pump coronary artery bypass grafting (off-pump CABG: OPCAB) has become a standard procedure, but the indication for the patients with severe acute coronary syndrome (ACS) has not been established. The purpose of this study is to evaluate the role of OPCAB for patients with acute myocardial infarction (AMI) and impending myocardial infarction (IMI). Clinical indication of OPCAB for acute coronary syndrome between November 1997 and December 2002, 14 patients diagnosed ACS out of 220 CABG cases underwent surgery. Twelve male and 2 female with a mean age of 66.3 +/- 7.5 were NYHA grade IV condition before surgery. Three of nine AMI cases and 4 of 5 IMI cases underwent OPCAB. Thirteen cases needed intra-aortic balloon pumping (IABP) support pre-operation, in 1 AMI and 2 IMI cases IABP had to be weaned during operation. The mean graft number was 2.6. Except one AMI case with severe cardiac damage, 13 cases were discharged in NYHA grade I-II condition. CONCLUSION: In early onset cases with still rising CK-MB, operative risk and result is difficult to evaluate pre-operatively. Equal results could be seen in IMI cases with no previous myocardial damage. We suggest, that in cases without severe myocardial damage, OPCAB could be one alternative treatment.

Aged↗

Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.

OBJECTIVES: The GM2 gangliosidoses are a group of genetic disorders caused by the accumulation of ganglioside GM2 in neuronal cells. We examined the alpha- and beta-subunits of beta-hexosaminidases by a non-radioisotopes detecting system to evaluate whether it was a useful method for understanding of the pathophysiologies of GM2 gangliosidoses. MATERIALS AND METHODS: We investigated the alpha- and beta-subunits of beta-hexosaminidases in cultured fibroblasts from cases of various forms of GM2 gangliosidosis by means of Western blotting and a chemiluminescence detection system. RESULTS: In a patient with infantile Tay-Sachs disease [HEXA genotype, Int5-SA(g-1-->t)/Int5-SA(g-1-->t)], the mature alpha-subunit was undetectable. In a patient with infantile Sandhoff disease (HEXB genotype, C534Y/C534Y), the mature beta-subunit was deficient. However, a small amount of the mature beta-subunit was detected in a patient with adult Sandhoff disease (HEXB genotype, R505Q(+I207V)/R505Q(+I207V)), which may have resulted in the residual enzyme activity and mild clinical course. Normal amounts of alpha- and beta-subunits were detected in a patient with GM2 activator deficiency. CONCLUSION: This method is easy and sensitive for detecting target proteins, and is useful for clarification of the pathophysiologies of GM2 gangliosidoses.

Adult↗

Office blood pressure variability as a predictor of acute myocardial infarction in elderly patients receiving antihypertensive therapy.

Larger variability of office blood pressure (BP) was reportedly associated with a higher risk of stroke or mortality from all causes. In the present study, we focused on the relationship of variability of office BP and occurrence of acute myocardial infarction (MI). We registered 139 patients receiving antihypertensive therapy for more than 1 year who experienced first-ever episode of MI at the age of 60 years or over. At least two sex- and age-matched (+/- 5 years) control patients were registered for every MI patient. Average systolic and diastolic BP during the 12-month period prior to the occurrence of MI, or the time of registration in the case of control patients, was similar in both patient groups. The office BP variability was evaluated by calculating the variation coefficient (VC) of BP. VC of diastolic BP was significantly higher in the MI patients (10.0 +/- 4.0%) compared with the control patients (8.8 +/- 3.4%). VC of systolic BP was not different between the MI and the control patients. Multiple logistic analysis revealed the relationship of the VC for office diastolic BP to the occurrence of MI was significant after adjustment for BP level, age, gender, body mass index, serum total cholesterol concentrations, diabetes mellitus, and current smoking. In conclusion, larger long-term variability of office diastolic BP during antihypertensive therapy is a predictor of MI.

Age Distribution↗