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Biomedical subjects

H Hayashi

Publications and source records attributed to H Hayashi.

At least 217 records · Page 12Linked to original sources
PubMed2000

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their frequency and distribution, to determine whether genotype correlates with phenotype, and to determine the rate of abnormal findings in heterozygotes for the WD gene. We analyzed 41 unrelated Japanese WD families, including 47 patients. Twenty-one mutations, including nine novel ones, were identified. 2871delC (15.9%), 1708-5T-->G (11. 0%), and Arg778Leu (13.4%) were the most common mutations. 2871delC was detected mainly in eastern Japan and 1708-5T-->G in western Japan. The homozygotes for the 1708-5T-->G, 2871delC, or Arg778Leu mutations did not show a correlation with their phenotypes. Ceruloplasmin and copper levels were abnormally low in 28.6% and 35. 0% of heterozygotes, respectively. When patients and their families are screened for WD, a high rate of abnormal laboratory data in heterozygotes must be taken into account.

Adenosine Triphosphatases↗
PubMed2000

Abnormal structure and expression of PTEN/MMAC1 gene in human uterine cancers.

The PTEN/MMAC1 gene, located on human chromosome 10q23, has recently been implicated as a candidate tumor suppressor gene in human cancers. In the present study, 12 uterine cancer cell lines and 87 uterine cancers of various grades and histological type were analyzed for PTEN/MMAC1 gene. Three of 44 endometrial carcinoma (7%) showed no PTEN/MMAC1 mRNA expression by RT-PCR analysis. Sequencing analysis of entire coding region of PTEN/MMAC1 gene revealed mutations in three of six endometrial cancer cell lines (50%) and 17 of 44 endometrial cancer tissues (39%). In contrast, for cervical cancers, only one of six cancer cell lines (2%) showed mutation, and one of 43 cancer tissues (2%) had an abnormality. Overall, 36% of the abnormal spots were located in exon 5, 24% were in exon 8, 16% were in exon 3, and 8% were in exon 6, and single cases of abnormality were found in exons 1, 4, and 7. Our results revealed that, in total, 60% of abnormalities were clustered in exons 5 and 8. Exon 5 is a functional domain of the PEN/MMAC1 gene, and therefore, abnormalities in this region may be important for loss of PTEN/MMAC1 gene function. Finally, we found a high frequency of PTEN/MMAC1 gene abnormalities in endometrial carcinomas but a low frequency in cervical carcinomas. These findings suggest that disruption of PTEN/MMAC1 by mutation or absence of expression may contribute to the pathogenesis or neoplastic evolution in a large proportion of endometrial carcinomas but in a small proportion of cervical carcinomas.

DNA, Complementary↗
PubMed2000

A feasibility study of chemosensitivity assay by adhesive tumor cell culture system using biopsy specimens for gastric cancer.

BACKGROUND AND OBJECTIVES: The adhesive tumor cell culture system (ATCCS) is known to produce high colony-forming efficiency. We, therefore, studied the feasibility of ATCCS for gastric cancer by use of biopsy specimens and the relationship between the results of ATCCS and histological effects of anticancer drugs. METHODS: Tumor specimens extracted by gastroendoscopic biopsy were sufficient for obtaining the result of sensitivity to at least one drug in 24 out of 30 (80%) patients. Twenty patients were administered 5-fluorouracil (5-FU) for 14 days prior to surgery, and the results of ATCCS were compared with histological changes of the resected specimens. RESULTS: The histological response rate was found to be 100% (4/4) when the 90% inhibition concentration (IC90) of 5-FU was less than 0.24 microg/ml (sensitive) and was 0% (0/3) when IC90 was greater than 0.40 microg/ml (resistant). CONCLUSIONS: Although lacking in statistical significance, the results suggest that the drug to which the tumor revealed sensitivity in the ATCCS would produce histological effects and the drug to which the tumor was resistant would have no histological effect.

Aged↗
PubMed2000

Reduced expression of p27/Kip1 is associated with the development of pulmonary adenocarcinoma.

p27/Kip1 (p27), a negative regulator of cell proliferation, is a powerful prognostic marker in non-small cell lung carcinoma. To clarify the significance of p27 aberrations in the tumourigenesis of lung adenocarcinoma, p27 expression was investigated by immunohistochemistry in lung adenocarcinoma and its precursor lesion, atypical adenomatous hyperplasia (AAH), and correlated with the expression of Ki-67, cyclin D1, and cyclin E. The p27 labelling index decreased in parallel with tumour progression (24.0% to 4.5%) and was found to be lower in neoplastic lesions than in normal bronchiolar epithelial cells (48.8%). There was a negative correlation between p27 and Ki-67 expression (rho=-0.384, p<0.001). Cyclin E-positive lesions (with labelling index >/=5%) were found only in overt adenocarcinomas. The Ki-67 labelling index of cyclin E-positive, high (>/=10%) p27 expressers was lower than that of cyclin E-positive, low (<10%) p27 expressers (16.8% vs. 42.6%; p=0. 046) and was similar to that of cyclin E-negative adenocarcinomas (15.0%). These results indicate that reduced p27 expression is associated with and may play a role in progression during the development of pulmonary adenocarcinoma.

Adenocarcinoma↗
PubMed2000

Characterization of a putative virulence island in the chromosome of uropathogenic Escherichia coli possessing a gene encoding a uropathogenic-specific protein.

This study was initiated to search for a homologue of the Vibrio cholerae zot gene in uropathogenic Escherichia coli (UPEC) using a specific DNA probe. The faint signal obtained at low stringency with some UPEC strains associated with prostatitis cases prompted us to examine UPEC strains by PCR using primers designed from the conserved regions of the proteins of the Zot group of putative NTPases containing the classical NTP binding motif. This led to the discovery of a DNA fragment in UPEC strains which hybridized with a probe designed from the PCR. Further analysis of this DNA fragment revealed an ORF which was designated as uropathogenic specific protein (Usp). The gene encoding Usp was 1038 bp long and codes for 346 amino acids with an appropriate SD sequence. Upstream and downstream analysis of usp revealed motifs of prokaryotic consensus promoters and three small ORFs with SDs and ribosome binding sites transcribed in the same direction of usp. The proximity of these set of genes in a specific area of the bacterial chromosome resembling a block of genes preferentially associated with UPEC coupled with the presence of a motif matching that of a Tn3 transposon family lead us to believe that this could be an hitherto unknown pathogenicity island.

Acid Anhydride Hydrolases↗
PubMed2000

A patient with rectal ulcer with severe stenosis presenting with perforated peritonitis.

We report a patient with rectal ulcer with severe stenosis, who underwent urgent surgical treatment for perforated peritonitis. The 54-year-old man suddenly developed cramping abdominal pain and fever while hospitalized, with signs of peritoneal irritation. An emergency laparotomy was performed, and severe stenosis of the rectum and a perforated lesion on the oral side approximately 10 cm distant from the stenosis were found, with massive abdominal purulent fluid. He was treated by rectosigmoid colon resection with transverse colon loop colostomy. Histopathologically, the stenosis was caused by ulceration extending to all muscular layers of the rectum, with inflammatory changes. Benign rectal stenosis is so rare that differential diagnosis from malignancy may be difficult when there are inflammatory changes in the surrounding tissues. However, it is necessary to keep in mind the likelihood of this disease in differentiation from rectal cancer.

Constriction, Pathologic↗
PubMed2000

Ineffective interferon treatment of chronic hepatitis C-associated porphyria cutanea tarda, but with a transient decrease in HCV RNA levels.

Many patients with porphyria cutanea tarda (PCT) have been reported to be hepatitis C virus (HCV) carriers, suggesting that HCV infection plays a role in the pathogenesis of this type of porphyria. In this study, we report a patient with chronic hepatitis C-associated PCT. Therapy with interferon (IFN) transiently decreased HCV RNA levels, but levels of urinary porphyrins and serum transaminases and ferritin remained unchanged. Serum ferritin and urinary porphyrin levels improved after phlebotomy, but this therapy was not effective in improving serum transaminase levels. Although a physiopathological association between HCV infection and PCT has been suggested previously, IFN was not effective in this patient. The transient decrease in HCV RNA levels was a factor independent of porphyrin metabolism.

Aged↗
PubMed2000

c-myc overexpression is not mandatory in aggressive-phase multiple myeloma with Burkitt's type translocation.

This report concerns a case of aggressive-phase multiple myeloma (AGMM) with Burkitt's type translocation t(8;14)(q24;q32), detected by Giemsa-banding. Double-color fluorescence in situ hybridization identified the breakpoint on 8q24 at a comparatively centromeric site, which was at least 300 kb and possibly 600 kb distant from the c-myc coding region. The breakpoint on 8q24 of the present case was far removed from that seen in other B-cell neoplasms with t(8;14)(q24;q32). Despite the presence of t(8;14)(q24;q32), neither rearrangement nor overexpression of the c-myc gene was observed in this case. Although our case may be a special case of multiple myeloma, it nevertheless suggests that overexpression of c-myc is not mandatory in an AGMM patient with Burkitt's type translocation. t(8;14)(q24;q32) which was seen in our case represents one of the first to be mapped at more than 300 kb 5' of c-myc. It should also be noted that this result could mean that a centromeric boundary 5' of c-myc exists where the influence of the immunoglobulin (Ig) H enhancer on c-myc transcription is not effective.

Aged↗
PubMed2000

Aggressive natural killer cell leukemia/lymphoma: a comprehensive cytogenetic study by spectral karyotyping.

A 38-year-old male presented with fever and hepatosplenomegaly. Cells that had infiltrated to the bone marrow were consistent immunophenotypically and genotypically with natural killer (NK) cells. Oligoclonal Epstein-Barr virus infection was detected in the bone marrow cells. The patient was diagnosed as a case of aggressive NK cell leukemia/lymphoma. Combined chemotherapy was not effective and death occurred shortly after presentation. Although the karyotype of this case was too complicated to be accurately identified only by G-banding, spectral karyotyping (SKY) analysis not only identified all chromosomal materials of unknown origin, but also detected the cryptic translocation on the apparently normal chromosome. Moreover, SKY analysis identified der(4)t(4;14)(q12;q11.2). The chromosomal band 14q11.2 is a recurring breakpoint in T-cell non-Hodgkin's lymphoma, and is also the locus of the delta chain of the T-cell receptor. To our knowledge, t(4;14)(q12;q11.2) in T-cell or NK-cell malignancies has not been previously reported.

Adult↗
PubMed2000

Influence of astigmatism on multifocal and monofocal intraocular lenses.

PURPOSE: To examine the influence of astigmatism on the visual acuity of patients with multifocal and monofocal intraocular lenses. METHODS: Thirty eyes of 30 patients who underwent five-zone refractive multifocal intraocular lens implantation and 30 eyes of 30 age-matched patients who had monofocal intraocular lens implantation were included. The visual acuities of these patients at 5.0, 3.0, 2.0, 1.0, 0.7, 0.5, and 0.3 m were measured by means of an all-distance vision tester after addition of a cylindrical lens of 0, 0.5, 1.0, 1.5, 2.0, and 2.5 diopters. RESULTS: Mean visual acuity at all distances decreased in proportion to the diopters of astigmatism in both the multifocal and monofocal intraocular lens groups. When astigmatism was 0.5, 1.0, or 1.5 diopters, distance visual acuity in the multifocal group was significantly worse than that in the monofocal group; with astigmatism of 2.0 diopters or more, intermediate visual acuity was also worse in the multifocal group. In contrast, near visual acuity in the multifocal group was significantly better than that in the monofocal group at all astigmatic diopters. When astigmatism was within 1.0 diopter, visual acuity in the multifocal group reached 20/29 at distance and 20/50 at near. Mean contrast sensitivity was also worse in the multifocal group than in the monofocal group. CONCLUSIONS: Both distance and intermediate visual acuity deterioration caused by astigmatism was greater with a multifocal intraocular lens than with a monofocal intraocular lens, whereas near visual acuity was better with the multifocal intraocular lens. When astigmatism was within 1.0 diopter, eyes with a multifocal intraocular lens achieved good visual acuity at both distance and near.

Accommodation, Ocular↗
PubMed2000

Brain distribution of 6-mercaptopurine is regulated by the efflux transport system in the blood-brain barrier.

6-mercaptopurine (6-MP) has been used clinically for 40 years to maintain remission in patients with acute lymphoblastic leukemia (ALL). However, central nervous system (CNS) relapses frequently occur in patients with ALL who continuously receive anticancer drugs, including 6-MP, during remission maintenance therapy. The cause of such CNS relapse is not well understood. One possible reason may involve the restricted distribution of 6-MP in the brain. This study, therefore, investigates the blood-brain barrier (BBB) transport which largely regulates 6-MP distribution in the brain using a quantitative microdialysis technique and centers on the efflux transport of 6-MP across the BBB. The brain tissue, cerebrospinal fluid (CSF), or hippocampal interstitial fluid (ISF) concentration of 6-MP was very low compared with the unbound plasma concentration, suggesting that 6-MP distribution in the brain is highly restricted. Kinetic analyses of this BBB transport showed that the efflux clearance from brain ISF to plasma across the BBB (CLout) is approximately 20-times greater than the influx clearance from plasma to brain (CLin). The CLout was significantly reduced by 1mM N-ethylmaleimide (NEM), a sulfhydryl-modifying agent, suggesting the participation of transport protein in the efflux of 6-MP across the BBB. In addition, efflux transport was inhibited by an intracerebral infusion of probenecid (1.5 mM), p-aminohippuric acid (PAH, 3.0 mM), benzoate (3.6 mM), or salicylate (3.7 mM) administered through a microdialysis probe, but neither choline (0.8 mM) nor tetraethylammonium (TEA, 0.7 mM) had any effect. These data suggest that the restricted 6-MP brain distribution may be ascribed to efficient efflux from the brain, possibly via both the organic anion transport system, shared with probenecid and PAH, and the monocarboxylic acid transport system, shared with benzoate and salicylate.

Animals↗
PubMed2000

Stimulation of the production of hypericins by mannan in Hypericum perforatum shoot cultures.

Shoot organ cultures were established from callus derived from anthers of Hypericum perforatum flowers and the effect of elicitors on hypericin and pseudohypericin production in shoot organ cultures was investigated. Mannan stimulated pseudohypericin production up to four fold (0.82 mg/g dry wt) and hypericin production up to two fold (0.04 mg/g dry wt.) beta-1,3-glucan and pectin slightly stimulated pseudohypericin production (ca. two fold), but had no effect on hypericin production. On the other hand, yeast extract showed no stimulatory effect, on either hypericin or pseudohypericin production.

Anthracenes↗
PubMed2000

Changes in anterior chamber angle width and depth after intraocular lens implantation in eyes with glaucoma.

OBJECTIVE: To examine the changes in anterior chamber angle width and depth induced by intraocular lens (IOL) implantation in eyes with angle-closure glaucoma (ACG), in eyes with open-angle glaucoma (OAG), and in eyes with no evidence of glaucoma or ocular hypertension. DESIGN: A comparative, nonrandomized, interventional study. PARTICIPANTS: Seventy-seven eyes with ACG, 73 eyes with OAG, and 74 control eyes undergoing cataract extraction and IOL implantation. INTERVENTION: All eyes underwent phacoemulsification and soft acrylic IOL implantation. MAIN OUTCOME MEASURES: The angle width and depth of the anterior chamber were measured using a Scheimpflug videophotography system before surgery, and at 1 week and at 1, 3, 6, 9, and 12 months after surgery. RESULTS: Before surgery, the mean anterior chamber angle width and depth in the ACG group was less than that in either the OAG or control groups by approximately 10 degrees in angle width and 1.0 mm in depth (P < 0.0001). After cataract extraction and IOL implantation, the angle width and depth increased significantly in all three groups (P < 0.0001). Although the width and depth in the ACG group were still smaller than that in the other groups, the differences decreased to 2 degrees for angle width and 0.3 mm for depth. In addition, no significant differences were found in these values between the OAG and control groups before or after surgery. Furthermore, no significant changes were observed in the angle width or depth in any of the three groups throughout the postoperative observation period. As expected, the mean preoperative intraocular pressure (IOP) in the ACG and OAG groups was higher than that in the control group. After cataract surgery, however, the mean IOP decreased significantly and was almost the same in all three groups at 1, 6, and 12 months after surgery. CONCLUSIONS: The width and depth of the anterior chamber angle in eyes with ACG increased significantly after cataract extraction and IOL implantation and became similar to that in eyes with OAG and that in normal eyes, which may lead to the decrease in IOP seen in the postoperative period. No significant changes were observed in angle width and depth in any of the three groups after surgery.

Aged↗