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Biomedical subjects

T Miki

Publications and source records attributed to T Miki.

At least 361 records · Page 20Linked to original sources
PubMed1997

Rearrangements of the BCL6 gene and chromosome aberrations affecting 3q27 in 54 patients with non-Hodgkin's lymphoma.

Chromosome aberrations affecting 3q27 are among the most frequent non-random abnormalities in non-Hodgkin's lymphomas (NHL), especially the diffuse, large cell type. Recently, an association between BCL6 rearrangement and frequent extranodal lesions, rare bone marrow infiltration and a favorable clinical outcome was reported. We performed molecular studies of the BCL6 gene in 54 patients with NHL. Twelve patients (22%) with rearranged BCL6 genes were selected for histological, clinical, molecular, and cytogenetic studies. Ten of these cases were diffuse, large cell type lymphoma, one a follicular lymphoma, and one a mantle cell lymphoma (MCL). All cases were of the B-cell type and this is the first time a rearranged BCL6 gene has been found in an MCL. Cytogenetic data for 10 cases were available and the partner sites of the 3q27 translocation were determined in 7 of 10 patients. These locations were variable, including 6p21.3, 9p22, and 14q11 in addition to the immunoglobulin loci 14q32 (IGH), 2p12 (IGK), and 22q11 (IGL). The heterogeneity in partner sites is distinct from other lymphoma subgroups and may suggest that the genetic events are not uniform among patients with BCL6 rearrangements.

Adult↗
PubMed1997

[Effects of long-term administration of alfacalcidol on bone mass and bone metabolism in patients with primary osteoporosis--comparison with calcium preparations].

Long-term administration of active vitamin D3 can reduce the loss of bone mass and the incidence of fractures in Japanese whose intake of calcium (Ca) is low. In a crossover study, we examined the safety and efficacy of 1 alpha (OH)D3 and combination therapy with a Ca preparation. We measured bone mass, the incidence of fractures and bone metabolism in 33 elderly patients with a high risk of fracture (mean age: 77.5 %/- 7.8 (SD) years). Subjects were randomly assigned to receive calcium lactate alone for 12 months after 12 months of combination therapy with 1 alpha (OH)D3 (1 microgram/day) (A-C group, 17 patients) or to take calcium lactate alone for 12 months and then undergo 12 months of combination therapy with 1 alpha(OH)D3 (C-A group, 16 patients). These subjects were followed for 24 months. In the A-C group, the bone mineral density (BMD) of the lumbar spine (L2-4 BMD) measured 6 months after the start of 1 alpha (OH)D3 administration was 3% higher than the baseline value. In the C-A group, L2-4 BMD measured 6 months after the start of calcium lactate administration had decreased by approximately 2%. The rate of decrease was the same 12 months after the start of administration. The differences in L2-4 BMD between the two groups 6 and 12 months after the start of administration were significant (p = 0.023 and p = 0.005, respectively). In the A-C group, the mean BMD of the distal one-third radius measured 6 months after the start of administration had increased by 5%, but the increase was 1% when measured 12 months after the start of administration. In the C-A group, there were no such changes. The incidence of vertebral fracture during combination therapy with 1 alpha(OH) D3 and Ca preparations in the A-C group was significantly lower than that in the C-A group (chi square test, p < 0.05). The serum Ca level in the C-A group gradually increased, as measured 6 and 12 months after the start of combination therapy with 1 alpha(OH) D3 and Ca preparations, although these changes were within the reference range. There was no hypercalciuria. Serum intact parathyroid hormone levels had decreased from 26.5 +/- 11.3 pg/ml and 30.7 +/- 10.3 pg/ml to 19.8 +/- 9.7 pg/ml and 25.5 +/- 9.6 pg/ml in the A-C group and the C-A group, respectively, by 6 months after the start of administration. The rate of decrease was significantly higher in the A-C group (p = 0.004). These findings suggest that long-term administration of 1 alpha(OH)D3 is safe even when combined with administration of Ca preparations, and that this agent inhibits parathyroid function, and thus prevents loss of bone mass and reduces the incidence of vertebral fracture.

Aged↗
PubMed1997

[Serum bone Gla-protein increases following short-term oral administration of active vitamin D3 in the elderly with vitamin D deficiency].

Serum bone Gla-protein (BGP) is produced by osteoblasts in a vitamin K-dependent process. It is well known that serum BGP levels increase after oral administration of active vitamin D3 in postmenopausal women and patients with chronic renal failure before dialysis. These findings indicate that active vitamin D3 increases the BGP production by osteoblasts. In the present study, a daily oral dose of 2 micrograms of 1 alpha (OH)D3 was administered to 10 elderly males (age, 75.0 +/- 10.9 years) and 8 young males (age, 29.0 +/- 3.2 years) to compare the changes in serum BGP levels between the two groups. None of the subjects had severe renal or hepatic dysfunction or abnormalities in calcium (Ca) metabolism. Serum BGP and 1,25(OH)2D levels in both groups were measured before the initial administration, at 24 h and at 1, 2 and 3 weeks after the start of administration. Serum parathyroid hormone (m-PTH), alkaline phosphatase (ALP), Ca and phosphorus levels were also measured in the elderly group. Serum BGP levels before the initial administration were 4.63 +/- 1.8 ng/ml in the elderly group and 4.33 +/- 0.92 ng/ml in the young group, with no significant difference between the two groups. In both group serum 1,25(OH)2D levels were slightly increased at 24 h after administration. In the elderly group serum BGP levels increased significantly to 11.5 +/- 3.0 ng/ml, an increase of approximately 250%, 1 week after the initial administration and the increase was maintained for up to 3 weeks after the administration commenced. However, no changes in serum BGP levels were noted in the young group. In the elderly group serum m-PTH levels were 544 +/- 257 pg/ml, almost the upper normal limit, before, and decreased slightly after, the administration of 1 alpha (OH)D3. Serum ALP levels also decreased slightly after the administration and serum Ca levels were slightly increased, however, the changes were within normal limits. We conclude that osteoblastic function is activated after short-term administration of active vitamin D3 in vitamin D deficient elderly subjects.

Administration, Oral↗
PubMed1997

Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.

Werner syndrome (WS) is an autosomal recessive disease with a complex phenotype that is suggestive of accelerated aging. WS is caused by mutations in a gene, WRN, that encodes a predicted 1,432-amino-acid protein with homology to DNA and RNA helicases. Previous work identified four WS mutations in the 3' end of the gene, which resulted in predicted truncated protein products of 1,060-1,247 amino acids but did not disrupt the helicase domain region (amino acids 569-859). Here, additional WS subjects were screened for mutations, and the intron-exon structure of the gene was determined. A total of 35 exons were defined, with the coding sequences beginning in the second exon. Five new WS mutations were identified: two nonsense mutations at codons 369 and 889; a mutation at a splice-junction site, resulting in a predicted truncated protein of 760 amino acids; a 1-bp deletion causing a frameshift; and a predicted truncated protein of 391 amino acids. Another deletion is >15 kb of genomic DNA, including exons 19-23; the predicted protein is 1,186 amino acids long. Four of these new mutations either partially disrupt the helicase domain region or result in predicted protein products completely missing the helicase region. These results confirm that mutations in the WRN gene are responsible for WS. Also, the location of the mutations indicates that the presence or absence of the helicase domain does not influence the WS phenotype and suggests that WS is the result of complete loss of function of the WRN gene product.

Asian People↗
PubMed1997

[Plasma cell leukemia with amyloid deposition and osteogenetic change at the site of an extramedullary plasmacytoma].

A 49-year-old man was admitted with swelling in the left lower extremity, and a mass in the left lower abdomen. Laboratory findings showed an increased WBC of 15,000/microliter with 41% plasma cells, and immunoglobulin (Ig) A of 2,557mg/dl with a monoclonal component. A roentgenogram and computed tomograph of the abdomen revealed that a 5 x 10 cm mass with calcification located in the iliopsoas muscle. Plasma cell leukemia with extramedullary plasmacytoma was diagnosed, and the patient was treated with high-dose dexamethasone (40 mg/day for 4 days), resulting in a good response with the disappearance of plasma cells in peripheral blood and a marked decrease in serum Ig A. However, the patient's condition deteriorated in spite of various treatments, and he died of heart failure 5 months after admission. With informed consent from relatives, a necropsy was performed and infiltration of plasma cells in the mass in the iliopsoas muscle was noted. We reported this case because plasma cell leukemia with amyloid deposition and osteogenesis at the site of extramedullary plasmacytoma is very rare.

Amyloid↗
PubMed1997

Coexistence of renal cell carcinoma and renal angiomyolipoma developing in a kidney: a case report.

Coexistence of renal cell carcinoma and angiomyolipoma in the same kidney is rare. A 54-year-old woman without tuberous sclerosis was admitted for further examination of incidental renal masses on ultrasonography. Computerized tomography revealed a 17-mm high density mass in the mediolateral portion of the right kidney and a 5-mm low density mass near the right lower pole. Because the former mass showed a typical tumor pattern on selective renal angiography and the latter mass was strongly hyperechoic on ultrasonography, a clinical diagnosis of renal cell carcinoma and angiomyolipoma was made. A right radical nephrectomy confirmed the preoperative diagnosis. She has been followed for 61 months with no recurrence.

Angiomyolipoma↗
PubMed1997

[A case of advanced esophageal cancer successfully treated by concurrent use of radiotherapy and low-dose CDDP and continuous infusion of 5-FU].

A 75-year-old male patient with advanced esophageal cancer was treated by radiotherapy and chemotherapy. External radiotherapy was performed by the field in field method. A total dose of 60 Gy was used in the small field (7 x 5 cm) (2.4 Gy/f and 25 f/5 wks) and a total dose of 45 Gy in the large field (14 x 6 cm) (1.8 Gy/f, 25 f/5 wks). Concurrent chemotherapy was performed at the 2nd and 5th weeks of the radiation therapy. In this chemotherapy of CDDP plus 5-FU, CDDP (25 mg/day) was given on days 1,3 and 5 of the week and 5-FU (500 mg/day) was given for 5 days by continuous infusion for the same week. By this treatment, a complete response (CR) was obtained, and no serious side effects were observed. After 1 year and 6 months, he is alive with no evidence of recurrence.

Aged↗
PubMed1997

Altered imprinting of the H19 and insulin-like growth factor II genes in testicular tumors.

PURPOSE: H19 and insulin-like growth factor II (IGF2) genes are imprinted in normal human tissues. Recent reports have described loss of imprinting (LOI) for these genes in some malignancies. We therefore examined the allele-specific expression of the H19 and IGF2 genes in testicular tumors. MATERIALS AND METHODS: Restriction fragment length polymorphisms were examined in 17 testicular germ cell tumors and 2 testicular malignant lymphomas. RESULTS: All 4 informative testicular germ cell tumors showed LOI for the H19 gene. Five of 9 informative germ cell tumors showed LOI for the IGF2 gene, while testicular lymphomas did not show biallelic expression of the H19 or IGF2 gene. CONCLUSION: Loss of imprinting for the H19 and IGF2 genes in testicular seminomatous germ cell tumors may be involved in oncogenesis.

Genes, Tumor Suppressor↗
PubMed1997

Pustulotic arthro-osteitis associated with acetabular cartilage lesion in pustulotic arthropathy--implication of bone marrow.

We describe a case of pustulotic arthro-osteitis with hip joint involvement. After right hip joint and walking did not improve despite drugs and physical therapy, total hip replacement was performed. During surgery, brownish degenerated tissue was detected on the surface of the acetabular side. Pathohistological examination revealed that granulation tissue caused by suppurative inflammation of the bone marrow had broken through the cartilage surface, reaching the superficial layer. Our findings suggest that hip joint lesions in pustulotic arthro-osteitis may originate from bone marrow lesions.

Acetabulum↗
PubMed1997

[Simultaneous bilateral testicular tumors with different cell types: a case report].

A 26-year-old man presented with a painless mass in the right scrotum. Physical examination revealed another smaller mass in the left testis. The patient underwent right radical orchiectomy and enucleation of the tumor in the left testis, followed by radiotherapy for right iliac and para-aortic lymph nodes up to a total dose of 30 Gy. Histology proved typical seminoma of the right testis and mature teratoma in the left testis. Imaging study including abdominal CT and chest X-ray and prompt lowering of beta-HCG level within the normal limit after surgery confirmed the diagnosis of stage I disease. Human leukocyte antigen (HLA)-A24 was identified in this case, suggesting its potential association with bilateral testicular tumor. He is now leading an uneventful life without recurrence of the disease at 30 months after surgery.

Adult↗
PubMed1997

Alterations of the p53 gene in occupational bladder cancer in workers exposed to aromatic amines.

Epidemiologic studies have revealed an increased risk for development of transitional cell carcinoma (TCC) among dye workers/painters occupationally exposed to aromatic amines such as benzidine, beta-naphthylamine, orthotoluidine, and aniline. In the present study, p53 gene mutations in 26 patients with bladder lesions occupationally exposed to aromatic amines were examined by single-strand conformation polymorphism analysis of PCR-amplified DNA segments, followed by direct sequencing. All were male, and age at admission ranged from 43 to 75 (median 66) years. Twenty-nine biopsy specimens were from primary lesions; 17 (61%) of these lesions were from TCC including one carcinoma in situ (CIS); 11 were from dysplasia; and 1 was taken from normal-looking transitional epithelium adjoining TCC. TCC lesions included 12 with low-grade (Grade 1 or 2) and 5 with high-grade (Grade 3 or CIS) changes. Twenty-four recurrent lesions were biopsied in 16 patients: TCC was found in 12 lesions (50%), CIS in 1 (4%), and dysplasia in 11 (46%). All lesions were localized within the submucosa except for two, which invaded into the muscle layers. PCR-single-strand conformation polymorphism analysis demonstrated that mutations (a) occurred in both dysplasia and in normal-looking epithelium, in addition to TCC lesions; (b) were at different sites in the p53 gene in concurrent or metachronous lesions; and (c) occurred in exon 5 in approximately 70% of lesions, especially at codons 151 and 152. C to T transitions were predominantly seen. These findings clearly show differences in the pattern of p53 mutation in occupational versus nonoccupational bladder lesions. Because both common and unique point mutations were found in p53 in concurrent and metachronous lesions, our results suggest that the multifocality of occupational bladder cancer arises both from multiple clonal lesions (field change) and from the dissemination of a single clone.

Adult↗
PubMed1997

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].

The CTG repeat number in the 3'-untranslated region of the myotonin protein kinase (MTPK) gene varies between 5 and 37 in normal individuals, whereas myotonic dystrophy (DM) patients have expansions from 50 to 3000 copies. However little is known about the molecular mechanisms or the genetic control of the expansion of triplet repeats. To explain the dynamic mutation mechanism and high prevalence in the population, slippage theory, multistep model and meiotic drive hypothesis have been proposed. Recent studies have shown that repeat expansion may affect neighboring genes (59 gene and DMAHP gene), or exert its effect at the RNA level by modulating the binding of (CUG)n-RNA binding proteins which are required for the maturation, stability and translation of specific mRNAs.

Genetics, Population↗
PubMed1997

[A randomized study on intravesical pirarubicin (THP) chemoprophylaxis of recurrence after transurethral resection of superficial bladder cancer].

A prospective randomized study was conducted to evaluate the efficacy of prophylactic intravesical instillation of tetrahydropyranyladriamycin (THP) following complete transurethral resection (TUR) of superficial bladder cancer. A total of 80 patients were randomized into "THP" or "control" group. In the THP group, 20 mg of THP dissolved in 40 ml saline (or 5% dextrose) was administered intravesically once a week for 10 weeks, starting from about 7 days after TUR. In the control group, 40 ml saline was given with the same schedule. The patients were followed up by cystoscopy and urinary cytology every 3 months. The number of evaluable patients was 36 for the THP group and 37 for the control group. The non-recurrence rates in the THP group and control group were 79.4% versus 63.2% at 1 year and 69.8% versus 47.4% at 3 to 5 years, respectively. These figures were not statistically significant. However, THP instillation significantly reduced tumor recurrence rates for multiple tumors, and also tended to decrease recurrence rates for primary and pT1 tumors. Adverse effects were observed in 53.6% of the patients in the THP group, but they were tolerable. Our results suggest that intravesical THP instillation would not be effective for all patients with superficial bladder cancer. Further study is warranted in a selected group of patients.

Administration, Intravesical↗