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Biomedical subjects

I Kondo

Publications and source records attributed to I Kondo.

At least 127 records · Page 7Linked to original sources
PubMed1994

Haplotype analysis at the FRAXA locus in the Japanese population.

Fragile X syndrome, one of the most common human genetic diseases, is characterized by a unique genetic mechanism which involves dynamic mutation in a heritable unstable DNA sequence, a p(CCG)n repeat, in the FRAXA locus. It has recently been suggested that a few founder chromosomes are responsible for most fragile X mutations in the Caucasian population. In order to investigate the origin of the fragile X mutations in the Japanese population, we analyzed haplotypes of the FRAXA locus in 40 unrelated fragile X chromosomes and 142 normal X chromosomes in Japanese males, by using two polymorphic AC repeats, FRAXAC1 and FRAXAC2, which flank the fragile site. This analysis provided evidence for founder fragile X chromosomes in the Japanese population, similar to that in Caucasians, although different haplotypes are involved. The distribution of normal allele size of the p(CCG)n repeat among the X chromosomes in the Japanese population is very similar to that reported for Caucasians, except that the most frequent copy number (n = 28) is one copy less than that in Caucasians and that there is an additional peak at 35 copies. There is significant correlation between FRAXAC alleles and the p(CCG)n repeat copy number in non-fragile X chromosomes, however, alleles with more than 31 copies of the p(CCG)n repeat do not segregate with either of the fragile X common FRAXAC haplotypes.

Asian People↗
PubMed1994

Histological evaluation of benign prostatic hyperplasia treated by long-term administration of chlormadinone acetate (CMA).

Although the clinical effects of attempted nonsurgical treatment of benign prostatic hyperplasia have been well documented, detailed histological evaluation of the effects of treatment appears to be limited. The effect of long-term administration of an antiandrogen, chlormadinone acetate (CMA), on benign prostatic hyperplasia was evaluated with histological comparison of two biopsy specimens, one before treatment and one after treatment. Secretory epithelium showed obvious regressive changes with occasional basal cell prominence after CMA treatment. Stromal elements, however, did not show any marked changes, except for occasional edematous loosening. Scores of multiple epithelial parameters tended to be correlated with clinical improvement in urinary obstructive symptoms, especially in patients with predominant glandular hyperplasia. These results suggest that long-term administration of the potent antiandrogen CMA to inhibit dihydrotestosterone-receptor binding might be a useful therapeutic maneuver in patients with glandular hyperplasia, without any deterioration of the stromal component.

Aged↗
PubMed1994

Anticipation in hereditary dentatorubral-pallidoluysian atrophy.

Anticipation refers to the progressively earlier onset and increase in disease severity in successive generations. We studied four families with hereditary dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disease, and anticipation was present in the mode of inheritance. In subsequent generations DRPLA shows an earlier onset and more severe as well as additional symptoms. Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission.

Adult↗
PubMed1994

A phase II study of prophylactic intravesical chemotherapy with 4'-epirubicin in recurrent superficial bladder cancer: comparison of 4'-epirubicin and adriamycin.

Since intravesical recurrence of superficial bladder cancer (Ta, T1) after transurethral resection (TUR) is frequent, adjuvant therapy to reduce the recurrence rate has been extensively investigated. Although intravesical chemotherapy has been employed for 30 years or more, neither the exact effect on the bladder epithelium nor the optimal dose and administration schedule has yet been clarified. In recent years, several derivatives of Adriamycin (ADR) have been developed, and 4'-epirubicin (FARM) is one of them. This drug has been shown to have antitumor effects almost equal to those of ADR and to produce less toxicity when given systemically as chemotherapy. In an attempt to clarify the effect of intravesical FARM in the prevention of recurrence of superficial bladder cancer, we conducted a prospective randomized trial to compare the effects of equal doses of FARM and ADR given by intravesical instillation after TUR in cases of highly recurrent superficial bladder cancer. A total of 73 patients with recurrent superficial bladder cancer were randomized to receive TUR and either 30 mg FARM or 30 mg ADR by intravesical instillation every 2-4 weeks for 1 year. The prophylactic effect on recurrence and the toxic effects of these drugs were investigated. The current results show that FARM provides efficacy almost equal to that of ADR in the prevention of recurrence in these patients. However, FARM also caused almost the same local toxic effects (bladder irritation, among others) as ADR. On the basis of these preliminary results, FARM is surmised to be one of the agents as beneficial as ADR in the prevention of recurrence of superficial bladder cancer.

Administration, Intravesical↗
PubMed1994

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by combined systemic degeneration of the dentatofugal and pallidofugal pathways. We investigated a candidate gene and found that DRPLA patients had an expanded CAG trinucleotide repeat in a gene on the short arm of chromosome 12. The repeat size varied from 7-23 in normal individuals. In patients one allele was expanded to between 49-75 repeats or occasionally even more. Expansion was usually associated with paternal transmission and only occasionally with maternal transmission. Repeat size showed a close correlation with age of onset of symptoms and disease severity. We conclude that DRPLA is the seventh genetic disorder known to be associated with expansion of an unstable trinucleotide repeat.

Alleles↗
PubMed1994

Development of an effective and simple insemination method for the in vitro fertilization of patients with male-factor infertility.

An insemination method involving mechanical removal of the cumulus and multiple oocytes per dish (MRC-MOPD) was applied to achieve in vitro fertilization (IVF) of patients with male-factor infertility, and the prognosis of IVF and embryo transfer was evaluated. Although the fertilization rate of patients with male-factor infertility was only 41.4% (12/29) using standard insemination methods, a 73.0% (27/37) fertilization rate was achieved with the MRC-MOPD method. Moreover, 10 patients with male-factor infertility who were treated with the MRC-COPD method achieved clinical pregnancy. A comparison of the results in the 10 patients who were treated with both methods in common reveals that the MRC-MOPD method also increased the fertilization rate per oocyte. The rate of occurrence of polyploid fertilization did not increase, although large numbers of sperm were inseminated via the MRC-MOPD method. These results indicate that the MRC-MOPD method is an effective and simple insemination technique to achieve successful IVF of patients with male-factor infertility.

Embryo Transfer↗
PubMed1994

Mapping of the human gene for inducible heme oxygenase to chromosome 22q12.

Heme oxygenase is an essential enzyme in heme catabolism that cleaves heme to form biliverdin, releasing carbon monoxide and iron. There are two isozymes of heme oxygenase: heme oxygenase 1 (HO-1) and heme oxygenase 2, each of which is encoded by a separate gene. It is noteworthy that HO-1 is inducible by various environmental factors, while heme oxygenase 2 is not. Here we have localized the human HO-1 gene to chromosome 22 by polymerase chain reaction (PCR) analysis of human-hamster somatic cell hybrids. The precise region of the HO-1 locus was then determined by fluorescence in situ hybridization, revealing that the human HO-1 gene is localized to 22q12.

Animals↗
PubMed1994

[Two cases reports of extramammary Paget's disease with adenocarcinoma].

Two patients who suffered from extramammary Paget's disease with adenocarcinoma were treated with combination chemotherapy. Both patients who complained of scrotal induration were the Paget's cells with undifferentiated adenocarcinoma in pathology. We tried CAP (cyclophosphamide, pirarubicin, cisplatin) therapy on case 1, and MEC (methotrexate, etoposide, cisplatin) therapy on case 2. The primary lesion was reduced and the metastatic lesion, showed regression.

Adenocarcinoma↗
PubMed1994

[An epidemiological study on osteoporosis using ultrasound bone densitometry].

Ultrasonic bone density measurements were performed in a population to study the relationship of bone density to age, body size, fracture, hip and back pain, and their diagnostic value for osteoporosis. In additions other factors related with osteoporosis diagnosed using ultrasonic measurements values were examined. The study subjects were thirty-eight men and sixty-three women who participated in community health examinations in 1993 in Akabane, Aichi prefecture. Indices evaluated for ultrasonic bone density measurement were speed of sound (SOS), broadband ultrasound attenuation (BUA) and stiffness index (SI). 1) In men, means for SOS and SI values declined with age from the forties to the seventies, but BUA was not related to age. In premenopausal women, SOS, BUA and SI were not related to age, but an age related decline was observed in postmenopausal women. 2) BUA was positively related to body weight in men and women, while the relationship with SOS and SI was not as strong. 3) Two postmenopausal women experienced fractures due to osteoporosis, and their SI values were less than 59%. About fifty percent of the subjects had hip and back pain but no clear association of SI to prevalence rate was observed. 4) Osteoporosis was diagnosed using SI values. Cases of osteoporosis were relatively older, had more years since menopause, were lower in height, body weight and thickness of skinfolds, but had higher serum total cholesterol levels others. 5) Further prospective epidemiological studies should be performed to evaluate the validity of this diagnostic criterion using SI values, and to clarify the relationship of lifestyles to ultrasonic bone density measurement and osteoporosis.

Adult↗
PubMed1994

[A comparison between a food frequency and amount questionnaire and 7-day diet record with weighing].

A nutritional evaluation questionnaire to assess usual dietary intake was developed with the aim of achieving an accuracy level of a seven consecutive day diet record with weighing (DRW). With this questionnaire (FAQ), weekly frequencies and amounts for eleven food groups and three dishes per meal were assessed. The FAQ was conducted twice with 19 female students with a week interval (FAQ-1 and FAQ-2) in October or November of 1992. Concurrent with FAQ-2 each subjects' weekly diet was analyzed using the DRW for seven consecutive days. 1) The Spearman's correlation coefficient between the weekly frequencies obtained from FAQ-2 and those from DRW was more than 0.40 in thirty-seven of forty-one food items. 2) Nutrient intakes evaluated by DRW was highly correlated with food intake for several foods. Nutrient intake was estimated using multiple regression equations with food intake obtained from FAQ-2. 3) Compared to DRW derived values, mean values of most nutrient intakes estimated from FAQ-2 showed deviations within ten percent. Correlation coefficients between the nutrient intake estimated from FAQ-2 and those for DRW were high for calcium, vitamin C, retinol, sugar and vitamin B2, but rather low for total energy, protein and fat. 4) These results show that for some nutrient intakes, FAQ reflected those obtained from DRW for these subjects. The use of FAQ in population-based epidemiological studies should be the subject of future evaluation.

Adult↗
PubMed1994

[Analysis of the candidate antigen for Harada's disease].

The candidate antigen for Vogt-Koyanagi-Harada's (VKH) disease was isolated from cultured human melanoma cells (G-361). First, the soluble protein from the melanoma cells was separated into several fractions according to the molecular weight by gel filtration. In each fraction, the antigenicity was analysed by lymphocyte proliferation assay using peripheral blood lymphocytes (PBLs) from VKH disease patients. Then the positive fractions were further separated by liquid isoelectrofocusing followed by SDS polyacrylamide gel electrophoresis. In the liquid isoelectrofocusing fractions, the fraction at about pH 6.0 contained the antigenic protein. The protein from the 75 kDa band on the SDS-PAGE of this fraction was able to cause proliferation of the PBLs from the VKH disease patients. Thus, it appears that the 75 kDa protein of pH 6.0 isoelectrofocusing point was the specific autoimmune antigen for VKH disease.

Adult↗
PubMed1993

Prophylactic oral UFT therapy for superficial bladder cancer.

BACKGROUND: A randomized prospective trial was performed to determine whether long-term oral UFT (a 1:4 mixture of tegafur and uracil) (Taiho Pharmaceutical Co., Tokyo, Japan) therapy was effective in preventing the intravesical recurrence of superficial bladder cancer. METHODS: A total of 112 patients with newly diagnosed superficial transitional cell carcinoma of bladder (Ta, T1 and G1 or G2) were randomized into a UFT-treated group (300-400 mg/d for 2 years) and a control group. RESULTS: After a median follow-up period of 24.5 months, the recurrence rate was 25.7% for the UFT group and 43.3% for the control group (P = 0.015, log-rank test). Side effects of UFT administration were acceptably low. CONCLUSIONS: These results suggest that long-term UFT administration after transurethral resection is effective in preventing the recurrence of superficial bladder cancer.

Administration, Oral↗
PubMed1993

Quick assay of serum HBs antibody levels using latex agglutination-integrating sphere turbidimetric assay (ISTA).

A method for determining serum HBs antibody applying the principle of integrating sphere turbidimetric assay (ISTA) by latex agglutination was developed. The minimum detectable level of HBs antibody by this method is 12.5 IU/L, indicating that this method is 3 times or more sensitive with better reproducibility and specificity than the passive hemagglutination (PHA) method. With a cut-off level of 25 IU/L, the possible highest simultaneous reading by this method was 1,000 IU/L. Serum HBs antibody can be readily measured in 10 or so minutes by this method if a fully automated EL-1000 analyzer is used. This rapid and simple method for determining serum HBs antibody will be useful not only clinically, but also in preventive medicine.

Enzyme-Linked Immunosorbent Assay↗
PubMed1993

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families.

Attempts to isolate the Huntington disease (HD) gene based on its position have been frustrated by apparently contradictory recombination events in HD pedigrees that have predicted two non-overlapping candidate regions: 100 kb at the telomere of the short arm of chromosome 4, and a 2.2 Mb region located internally at 4p16.3. The proximal location is also supported by the detection of a linkage disequilibrium between HD and some restriction fragment length polymorphisms (RFLPs) at the D4S95, D4S98, and D4S127 loci. In the present study, a proximal marker D4S95 showed tight linkage to the disease locus in Japanese pedigrees (Zmax = 3.31, theta max = 0.00), while distal markers D4S115 and D4S111 did not. Particularly, a two point linkage analysis between D4S111 and HD yielded a lod score -2.01 for theta = 0.015. This result leads to the exclusion, as a possible region of localization of the HD gene, of more than 3 cM of the genome around D4S111 locus. At the same time our results favor aforementioned proximal location as a candidate location for the HD gene.

Adult↗
PubMed1993

The Costello syndrome: report of a case and review of the literature.

A 5-year-old girl with the Costello syndrome is reported. Her clinical manifestations included growth and developmental delay, a distinct facial appearance with sparse and curly hair, nasal papillomata, and dark loose skin of the hands and feet. These manifestations, especially nasal papilloma, an age-dependent anomaly, are distinct in the Costello syndrome.

Abnormalities, Multiple↗
PubMed1993

A new learning paradigm: adaptive changes in interlimb coordination during perturbed locomotion in decerebrate cats.

Adaptive interlimb coordination was studied during perturbed locomotion in experimental chronically decerebrate cats. Perturbations were applied to the stance phases of the left forelimb using a newly developed treadmill which consisted of three compartments, one each for the left forelimb, the left hindlimb and both right limbs. During the perturbed locomotion, the treadmill belt for the left forelimb was driven at about twice the speed for the other limbs. During the first 1-50 perturbed steps, the step cycles of both forelimbs showed marked fluctuations; thereafter, the animals achieved stable locomotion by slightly shortening step cycle durations, and also by adjusting durations of bisupport phases asymmetrically in the left and right forelimbs. The present method provides a new test paradigm for adaptive interlimb coordination in locomotion, which will be useful in studying neural mechanisms of motor learning involving cerebellar synaptic plasticity.

Adaptation, Psychological↗