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Biomedical subjects

Y Goto

Publications and source records attributed to Y Goto.

At least 343 records · Page 19Linked to original sources
PubMed1998

Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy.

A 40-year-old woman who developed intestinal dysmobility was found, at rectal biopsy, to have marked microvacuolation of mucosal muscle layer cells, which corresponded to increased accumulation of abnormal mitochondria. Skeletal muscle biopsy specimens showed ragged-red fibers, vessels strongly reactive for succinic dehydrogenase, and focal deficiency of cytochrome c oxidase. Autopsy performed at the age of 50 revealed prominent accumulation of abnormal mitochondria in the intestinal smooth muscle cells with a mottled distribution of focal necrosis, multiple small cerebral infarcts with diffuse neuronal loss, and rarefaction of the perivascular white matter. Mitochondrial DNA analysis showed a point mutation at position 3243. This case, showing features of both mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), indicates that routine intestinal biopsy can detect mitochondrial encephalomyopathy with gastrointestinal involvement. The main intestinal changes were extensive accumulation of abnormal mitochondria in the leiomyocytes and scattered focal necrosis.

Female↗
PubMed1998

Highly repetitive DNA sequences that are restricted to the germ line in the hagfish Eptatretus cirrhatus: a mosaic of eliminated elements.

The New Zealand hagfish, Eptatretus cirrhatus, is known to eliminate parts of its chromosomes during embryogenesis from presumptive somatic cells. Electrophoresis of germ line and somatic DNAs of this species, after treatment with the restriction endonucleases DraI and EcoRI, revealed three fragments of DNA that were restricted to the germ line. DNA filter hybridization experiments demonstrated that these fragments were present almost exclusively in the germ line DNA of E. cirrhatus and that they were highly and tandemly repeated. Thus, these DNA fragments appeared to be eliminated during embryogenesis. Moreover, one fragment (a DraI fragment) cross-hybridized with the germ line DNA from other species of hagfish, namely, Eptatretus okinoseanus and Paramyxine atami. Molecular cloning and sequence analysis revealed that the DraI fragment was composed mainly of closely related sequences of 85 bp in length and that this sequence was about 75% homologous to the sequence of EEEo2 (eliminated element of E. okinoseanus 2) which is a germ line-restricted and highly repetitive sequence that was isolated previously from E. okinoseanus. The other two fragments were composed of three families of closely related sequences that were 172 bp long (designated EEEc1), 61 bp long (EEEc2) and 54 bp long (EEEc3). Fluorescence in situ hybridization experiments revealed that each eliminated element was distributed on several chromosomes that are limited to germ cells. EEEo2 was dispersed on 12 C-band-positive chromosomes. EEEc1 and EEEc3 were dispersed on all C-band-positive and several C-band-negative chromosomes. By contrast, EEEc2 was located to terminal regions of several C-band-negative chromosomes. These results suggest that the eliminated chromosomes in hagfish are mosaics of highly repeated, germ line-restricted families of DNA sequences.

Animals↗
PubMed1998

Transient oxygen uptake response to exercise characterizes functional capacity of the cardiocirculatory system in patients with chronic heart failure: a random stimulus approach.

The transient response of oxygen uptake (VO2) to submaximal exercise, known to be abnormal in patients with cardiovascular disorders, can be useful in assessing the functional status of the cardiocirculatory system, however, a method for evaluating it accurately has not yet been established. As an alternative approach to the conventional test at constant exercise intensity, we applied a random stimulus technique that has been shown to provide relatively noise immune responses of system being investigated. In 27 patients with heart failure and 24 age-matched control subjects, we imposed cycle exercise at 50 W intermittently according to a pseudo-random binary (exercise-rest) sequence, while measuring breath-by-breath VO2. After determining the transfer function relating exercise intensity (W) to VO2 and attenuating the high frequency ranges (> 6 exercise-rest cycles x min(-1)), we computed the high resolution band-limited (0-6 cycles x min(-1)) VO2 response (0-120 s) to a hypothetical step exercise. The VO2 response showed a longer time constant in the patients than in the control subjects [47 (SD 37) and 31 (SD 8) s, respectively, P < 0.05]. Furthermore, the amplitude of the VO2 response after the initial response was shown to be significantly smaller in the patients than in the control subjects [176 (SD 50) and 267 (SD 54) ml x min(-1) at 120 s]. The average amplitude over 120 s correlated well with peak VO2 (r = 0.73) and deltaVO2/deltaW (r = 0.70), both of which are well-established indexes of exercise tolerance. The data indicated that our band-limited VO2 step response using random exercise was more markedly attenuated and delayed in the patients with heart failure than in the normal controls and that it could be useful in quantifying the overall functional status of the cardiocirculatory system.

Adult↗
PubMed1998

Venous aneurysm of the cephalic vein: report of a case.

We herein report the rare case of a 41-year-old Japanese woman in whom a venous aneurysm in the left cephalic vein was excised under local anesthesia. Histological examination revealed significant diminution in the number and size of muscle and elastic fibers in the aneurysm wall. Conceivably, a combination of endophlebohypertrophy and a congenital focal defect of the elastic and muscle fibers might have contributed to the development of this venous aneurysm.

Adult↗
PubMed1998

Plasma brain natriuretic peptide is a biochemical marker for the prediction of progressive ventricular remodeling after acute myocardial infarction.

To investigate the relation between plasma brain natriuretic peptide (BNP) and progressive ventricular remodeling, we measured plasma BNP and atrial natriuretic peptide (ANP) in 30 patients with acute myocardial infarction on days 2, 7, 14, and 30 after the onset. Left ventricular end-diastolic volume index (EDVI), end-systolic volume index (ESVI), and ejection fraction (EF) on admission and 1 month after the onset were assessed by left ventriculography. Changes in EDVI (deltaEDVI), ESVI (deltaESVI), and EF (deltaEF) were obtained by subtracting respective acute-phase values from corresponding chronic-phase values. Plasma ANP on days 2 and 7 showed only weak correlations with deltaEDVI (r = 0.48 and 0.54; both p < 0.01), whereas plasma BNP on day 7 more closely correlated with deltaEDVI (r = 0.77; p < 0.001). When study patients were divided into two groups according to plasma BNP on day 7, the group with BNP higher than 100 pg/ml showed greater increases in left ventricular volume and less improvement in EF compared with the other group with BNP lower than 100 pg/ml (deltaEDVI = 10.4 +/- 8 vs -3.4 +/- 9 ml/m2, deltaESVI = 6.2 +/- 7 vs -4.9 +/- 5 ml/m2, and deltaEF = 1.0% +/- 4% vs 4.9% +/- 5%; p < 0.05, respectively). Multiple regression analysis revealed that only plasma BNP on day 7, but not ANP, peak creatine phosphokinase level, left ventricular end-diastolic pressure, or acute-phase EF, correlated independently with deltaEDVI (p < 0.01). These results suggest that plasma BNP may be a simple and useful biochemical marker for the prediction of progressive ventricular remodeling within the first 30 days of acute myocardial infarction.

Adult↗
PubMed1998

Clinicopathological and immunological characteristics of six cats with granular lymphocyte tumors.

Clinical and immunological characteristics were investigated in six cases of feline granular lymphocyte (GL) tumor. The ages of the affected cats were relatively old, ranging from 4 to 13 years of age. Gastrointestinal signs were commonly observed in these cases. Only one of the six GL tumor cases was positive for feline leukemia virus (FeLV) antigen. Phenotypic analysis revealed that the GL tumor cells from all of the six cases lacked the T- or B-cell markers. These GL tumor cells were examined by Southern blot analysis using feline immunoglobulin (Ig) and T-cell receptor (TCR) gene probes. GL tumor cells obtained from two cases were identified as cells of T-cell lineage by the presence of a rearranged TCR beta gene, whereas those from the other four cases were considered to be derived from non-T- non-B-cell lineage because of the absence of rearrangement of these genes. These findings indicated that feline GL tumors can be considered as a specific disease entity in feline lymphomas because the cases examined in this study showed onset at an older age, a low incidence of FeLV infection and frequent involvement of gastrointestinal lesions, which are not found in typical FeLV-associated lymphomas. Although no specific phenotypes was observed by phenotypic analysis, the feline GL tumor cells were divided into two consistent genotypes of T-cell or non-T- non-B-cell lineages.

Abdominal Neoplasms↗
PubMed1998

Genetic heterogeneity of env gene of feline immunodeficiency virus obtained from multiple districts in Japan.

Feline immunodeficiency virus (FIV) infection is widespread in many countries. FIV isolates have been classified into five distinct subtypes, A, B, C, D and E based on their env gene sequences. Several reports indicate that most of the FIVs isolated in Japan belong to subtype B which includes the first Japanese isolate, TM2 strain. To examine the distribution of FIV subtypes in Japan, proviral DNA sequences of the env gene were directly amplified by nested PCR from FIV-infected cats that had been kept in multiple districts throughout Japan. Phylogenetic analysis of the 11 strains showed that four FIV subtypes, A, B, C and D, were present in Japan. Among these subtypes, subtypes B and D were the two most common subtypes in Japan, and they were mainly distributed in the eastern and western parts of Japan, respectively. The present study provides information that is fundamental for development of a vaccine to protect against FIV infection in cats.

Amino Acid Sequence↗
PubMed1998

Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis.

On dystrophin gene analysis by multiplex polymerase chain reaction (PCR), 76 of 130 (58.5%) Japanese patients with Duchenne muscular dystrophy had a deletion or duplication in genomic DNA. Of the remaining 54 patients who had no identifiable gene mutations, muscle biopsy tissue was available in 16 for RNA extraction. The full length of the coding regions of dystrophin cDNA was amplified in 10 fragments by reverse transcription nested PCR (RT-PCR). Five of 16 patients (31%) had dystrophin cDNA of abnormal size. One patient had a deletion, and two duplications that were not covered by multiplex PCR, one an exon-skipping of exon 51 caused by a 5' consensus splice site mutation of intron 51, and one 172 bp or 202 bp insertion in the cDNA between exon 25 and 26. Nested RT-PCR from the total RNA extracted from muscle biopsy was useful for screening patients who had no identifiable gene abnormality by multiplex PCR.

Adolescent↗
PubMed1998

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.

Among 80 patients with the clinical and brain imaging characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA. In addition, three patients had a T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh's syndrome. In our three patients, one had the typical clinical characteristics of Leigh's syndrome from early infancy, and two had the later onset of neurological deficits. All had a slowly progressive course and basal ganglia abnormalities by neuroimaging. As nt 8993 and 9176 are located in the ATPase 6 coding region, altered ATPase function may be one of the enzyme abnormalities in Leigh's syndrome and other similar conditions with bilateral striatal necrosis.

Adolescent↗
PubMed1998

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

The severe infantile form of myotubular myopathy is a fatal muscle disease that predominantly affects male infants and is characterized by severe weakness and hypotonia from birth. X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin. We screened the MTM1 gene for mutations in seven Japanese patients (six males and one female) who had the diagnosis of severe infantile form of myotubular myopathy. We found five mutations, including three novel mutations based on sequence analysis of RT-PCR fragments covering the entire open reading frame. Two patients (one male and one female), who had similar clinicopathologic features, did not have any mutation in the MTM1 gene open reading frame, suggesting that they may have had an autosomal recessive disease.

Child, Preschool↗
PubMed1998

Chain-like conformation of heat-denatured ribonuclease A and cytochrome c as evidenced by solution X-ray scattering.

BACKGROUND: Although the characterization of heat-denatured proteins is essential for understanding the thermodynamic mechanism of protein folding, their structural features are still unclear and controversial. In order to address this problem, we studied the size and shape of the heat-denatured states of bovine ribonuclease A (RNase A) and horse ferricytochrome c (cytochrome c) by solution X-ray scattering. RESULTS: RNase A has four disulfide bonds, whereas cytochrome c, with a covalently bound heme group, has no disulfide bond. Guinier plots show that the heat-denatured RNase A is relatively compact, but the heat-denatured cytochrome c is expanded. On the other hand, the Kratky plots of the two proteins are similar, indicating that the heat-denatured proteins assume a chain-like disordered conformation. The X-ray scattering of RNase A and cytochrome c at various temperatures confirmed that their thermal transitions from a globular native state to a chain-like extended conformation can be approximated well by a two-state transition. CONCLUSIONS: These results indicate that the heat-denatured RNase A and cytochrome c are substantially unfolded according to the criteria of solution X-ray scattering, although the heat-denatured RNase A remains compact because of the presence of the disulfide bonds. The results also confirm that the thermal denaturation occurs cooperatively with the breakdown of secondary and tertiary structure.

Animals↗
PubMed1998

Mutations in the integrin alpha7 gene cause congenital myopathy.

The basal lamina of muscle fibers plays a crucial role in the development and function of skeletal muscle. An important laminin receptor in muscle is integrin alpha7beta1D. Integrin beta1 is expressed throughout the body, while integrin alpha7 is more muscle-specific. To address the role of integrin alpha7 in human muscle disease, we determined alpha7 protein expression in muscle biopsies from 117 patients with unclassified congenital myopathy and congenital muscular dystrophy by immunocytochemistry. We found three unrelated patients with integrin alpha7 deficiency and normal laminin alpha2 chain expression. To determine if any of these three patients had mutations of the integrin alpha7 gene, ITGA7, we cloned and sequenced the full-length human ITGA7 cDNA, and screened the patients for mutations. One patient had splice mutations on both alleles; one causing a 21-bp insertion in the conserved cysteine-rich region, and the other causing a 98-bp deletion. A second patient was a compound heterozygote for the same 98-bp deletion, and had a 1-bp frame-shift deletion on the other allele. A third showed marked deficiency of ITGA7 mRNA. Clinically, these patients showed congenital myopathy with delayed motor milestones. Our results demonstrate that mutations in ITGA7 are involved in a form of congenital myopathy.

Antigens, CD↗
PubMed1998

A vitrectomy improves the transfection efficiency of adenoviral vector-mediated gene transfer to Müller cells.

The neural retina is a logical target of gene therapy for various ocular diseases. We developed a new gene delivery method to the neural retina using an adenoviral vector with a high degree of gene transfection efficiency and less functional damage. An adenoviral vector bearing the lacZ gene (AdCALacZ) was injected into the eyes of adult Wistar rats after an SF6 compression gas vitrectomy and left for 30 min followed by washing with balanced salt solution (BSS) (method A). Three other methods, comprising a simple intravitreal injection (method B), an intravitreal injection after an SF6 compression gas vitrectomy (method C) or a subretinal injection (method D), were also studied. The gene expression was examined 6 days after the AdCALacZ injection. An immunohistochemical study for antivimentin, antiglial fibrillary acidic protein and anti S100 protein antibodies showed the neural retinal cells (Müller cells) to be primarily transfected by methods A, B and C, while only a few cells were transfected by method D. The expression of beta-galactosidase was visualized by X-gal staining and the positive areas on each hemiflat mount specimen were measured by an image analyzer and then were adopted as a value of gene transfer efficiency. The highest degree of gene expression was obtained by methods A (23.2% of total retinal area) and C (19.8%), while the lowest degree was obtained by method B (8.9%). The inflammation was observed in all eyes and the value of inflammation was quantified as the average inflammatory cell number in each microscopic field (cells per fields). A moderate degree of inflammation was induced by methods B (28.3 cells per field) and C (27.5 cells per field) and a minimal degree of inflammation was induced by method A (11.2 cells per field). We evaluated the retinal function by measuring an electroretinogram (ERG). The amplitudes of the ERG were depressed in all eyes treated with AdCALacZ. This depression was manifested most by methods B and C, and least by method A. The deterioration in the ERG findings seemed to correlate with the intensity of inflammation. Our study showed that an intravitreal injection with an adenoviral vector can transfer the genes to the neural retinal cells and therefore a vitrectomy and the subsequent removal of the adenoviral vector, can thus significantly improve the transfection efficiency and also reduce the degree of functional damage.

Adenoviridae↗
PubMed1998

Creeping eruption caused by a larva of the suborder Spirurina type X.

We report a 40-year-old Japanese man with a creeping eruption caused by a larva of the nematode suborder Spirurina type X. He had eaten raw small squid (hotaruika) 4 weeks before the serpiginous erythematous eruption appeared on his abdomen. Routine laboratory tests revealed only slight eosinophilia in his peripheral blood. Although we could not find the larva in an excised skin specimen, an indirect immunofluorescence test confirmed the presence of antibodies against larvae of the suborder Spirurina type X. We review 28 reported cases in Japan which showed that creeping eruption caused by larvae of the suborder Spirurina type X has the following clinical characteristics: an incubation time of 1-4 weeks; a migratory, well-defined, narrow, serpiginous erythematous eruption; and only slight peripheral blood eosinophilia. Excision of the advancing end of the track was curative in our patient.

Adult↗
PubMed1998

An essential role of myosin light-chain kinase in the regulation of agonist- and fluid flow-stimulated Ca2+ influx in endothelial cells.

Cytosolic Ca2+ ([Ca2+]i) plays an important role in endothelial cell signaling. Although it has been suggested that the influx of Ca2+ can be triggered by depletion of intracellular Ca2+ stores, the mechanism (or mechanisms) underlying this phenomenon needs further elaboration. In the present study, involvement of myosin light-chain kinase (MLCK) in the regulation of Ca2+ signaling was investigated in agonist- and fluid flow-stimulated endothelial cells loaded with Ca2+-sensitive dyes. Bradykinin (BK) and thapsigargin caused an increase in [Ca2+]i followed by a sustained rise due to Ca2+ influx from extracellular space and shifted total myosin light-chain (MLC) from the unphosphorylated to the diphosphorylated form. ML-9 (100 microM), an inhibitor of MLCK, abolished Ca2+ influx and prevented MLC diphosphorylation in BK- and thapsigargin-treated cells, but did not affect Ca2+ mobilization from internal stores. Fluid flow stimulation (shear stress=5 dynes/cm2) increased [Ca2+]i and enhanced MLC phosphorylation. ML-9 also inhibited Ca2+ response and MLC phosphorylation in fluid flow-stimulated cells. The Ca2+ influx in response to BK was linearly correlated with the diphosphorylation of MLC in ML-9 treated cells. Effects of ML-5 and ML-7, analogs of ML-9, to inhibit Ca2+ influx paralleled their potencies to inhibit MLCK activity. These findings demonstrate that MLCK plays an essential role in regulating the plasmalemmal Ca2+ influx in agonist- and fluid flow-stimulated endothelial cells. This study is the first to report the close relationship between Ca2+ influx and MLC diphosphorylation.

Animals↗