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Biomedical subjects

I Kondo

Publications and source records attributed to I Kondo.

At least 217 records · Page 12Linked to original sources

A fragile X female with Down syndrome.

Clinical and cytogenetic aspects of a female infant with trisomy 21 and the fragile X [fra(X)] chromosome are reported. Most of the facial characteristics of the patient are those observed in Down syndrome, but some features such as long face with prominent forehead and lower jaw, and large ears are related to the fra(X) syndrome. The origin of an additional chromosome 21 may be ascribed to maternal first meiotic nondisjunction in our case. It has been suspected that female carriers of the fra(X) chromosome may be predisposed to meiotic nondisjunctional events. However, there is probably no relationship between the two chromosomal abnormalities in our case because of the maternal age at the delivery.

Adult↗

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.

Two single-copy DNA sequences, pG24E6.8 (D13S21) detecting a low-frequency MspI RFLP and pG14E1.9 (D13S22) detecting a high-frequency Dra I RFLP, have been isolated and cloned from a human chromosome 13-specific phage library and localized at 13q14. Their subband localization was described using a panel of cell lines from patients with different chromosome 13 deletions. A quantitative analysis of hybridization signals was carried out, taking for reference a single-copy DNA sequence from another chromosome. D13S21 and D13S22 were both assigned to q14.1-14.2, which also harbors the genes responsible for retinoblastoma and Wilson disease. The Dra I polymorphism detected by pG14E1.9 is a very suitable one for linkage studies in families with either disease.

Cell Line↗

Establishment of a new prostatic carcinoma cell line (TSU-Pr1).

A new epithelial cell line, TSU-Pr1, from a human prostatic adenocarcinoma metastatic to lymph node has been established in long term tissue culture. The cultured cells show loss of contact inhibition, rapid growth in vitro and growth in athymic nude mice. Karyotypic analysis demonstrated an aneuploid karyotype with a modal chromosome number of 80 including a Y-chromosome and at least 10 marker chromosomes. The cells produced only a small amount of prostatic acid phosphatase, and heterotransplanted tumors did not have nuclear androgen receptors.

Adenocarcinoma↗

A Japanese patient with the Dubowitz syndrome.

A 2-year-old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia, is presented. The clinical findings of this patient are strikingly similar to those of patients with the Dubowitz syndrome. However, all reported cases with the Dubowitz syndrome are Caucasians. This syndrome may be diagnosed even in sporadic cases of any ethnic groups based on the characteristic features.

Child↗

A histochemical study of APUD ability in the taste buds of experimentally induced zinc-deficient mice.

To explore the relationship between taste acuity and zinc deficiency, a histochemical investigation was made into the taste buds of mice fed a zinc-deficient diet. Nine weeks after the start of the diet, the average serum zinc level of the mice was 45% lower than that of a control group of mice. Moreover, growth was arrested significantly. Two-bottle preference tests revealed that the intake ratio of 10(-5) M quinine hydrochloride solutions had increased markedly in the zinc-deficient mice compared with the controls. The circumvallate taste buds showed no morphological changes. Fluorescent histochemical examination showed an uptake of a monoamine precursor (5-HTP) by the gustatory cells in the zinc-deficient mice after the 5-HTP treatment. Upon immunohistological examination, however, no serotonin immunoreactivity appeared in the gustatory cells of the zinc-deficient mice after the 5-HTP treatment. These results suggest that zinc-deficiency may induce hypogeusia and decrease the ability to transform a monoamine precursor to monoamine in the gustatory cells, albeit the monoamine precursor uptake ability is not affected.

APUD Cells↗

Genetic control of immune response to staphylococcal exfoliative toxin A in mice.

Different inbred and congenic resistant strains of mice were immunized with staphylococcal exfoliative toxin A (ETA). In antibody responses measured in sera of mice by a passive hemagglutination technique, A/J, DBA/2, BALB/c, B10A, B10D2, B10S, and A.SW were high responders. C57BL/10 (B10), A.BY, and DBA/1 were low responders. The congenic C3H/HeJ and C3H.SW mice were, respectively, high and low responders. The observation that the immune responses of the mice to ETA were closely linked with the haplotypes of their H-2 complexes suggests the existence of an H-2-linked immune response (Ir) gene coding for the production of humoral antibodies to ETA. Four B10A recombinants were used to map this gene within the H-2 complex. The finding that B10A(2R) and B10A(4R) were high responders, whereas B10A(3R) and B10A(5R) were low responders, indicates that the gene controlling antibody response to ETA is located in the I-A subregion or the H-2K end within the H-2 complex. We wish to propose the name Ir-ETA for this gene. The function of Ir-ETA seems to be at least related to antigen recognition at the T-lymphocyte level. Neonatal mice are generally susceptible to ETA regardless of their H-2 haplotypes. However, the neonatal mice born to a high-responder mother immunized with ETA were resistant to the subcutaneous challenge of ETA, but those born to an immunized low-responder mother were susceptible to the challenge. This result suggests that if the mother is a high responder to ETA and is effectively immunized with ETA, the maternal immunity makes it possible to neutralize this toxin in neonatal mice.

Animals↗

[Clinical evaluation of total cystectomy in patients with bladder cancer].

Thirty-one patients with bladder tumors underwent total cystectomy between April, 1969 and March, 1984. The overall five-year survival rate was 62.2%, and the ten-year survival rate was 55.0%. However, 11 of the 12 cancer deaths occurred within 5 years. The survival rate was significantly higher in G1 than in G2 or G3, but there was no significant difference between G2 and G3. The survival rate was clearly different between the superficial and deep invasive type. The group of stage pT1a or less had a significantly higher survival rate than the group of pT1b. No significant difference was detected among the groups of stage pT1b or higher. The presence of intramural lymphatic invasion (ly) may be an important prognostic factor. Pelvic lymph node metastasis was detected in 28.6% of ly 1, and in 71.4% of ly 2. The bladder cancer could be rationally classified into a superficial type and an invasive type according to the destruction of the lamina proprie. Proper adjuvant therapy should be performed for the invasive type which shows ly-positive cancer.

Adult↗

[Results of pulmonary resection for metastatic renal cell carcinoma].

Nine cases of metastatic renal cell carcinoma to the lung were studied to assess the efficacy of surgical management. Between January, 1965 and December 1981, 116 cases of metastatic renal cell carcinoma to the lung were treated. Nine of these cases (7.8%), were treated with surgical resection for the pulmonary metastases. The overall crude survival rate after pulmonary resection was 33.3% (3/9) at 3 years and 22.2% (2/9) at 5 years. Two patients are long-term survivors, one still being in good health 108 months, and the other 72 months after pulmonary resection. Pulmonary resection for metastatic renal cell carcinoma was considered effective in some selected slow-growing cases as protection against metastasis from a metastasis.

Adult↗

Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase.

We have expanded our studies on a patient with a mitochondrial myopathy caused by a defect at the level of complex III of the respiratory chain. Using activity measurements, electron microscopy, protein synthesis in the presence of emetine, and antibody binding, we have demonstrated that the defect is not expressed in cultured skin fibroblasts from this patient. Electron microscopy of peripheral blood leukocytes and activity measurements in transformed lymphoid cells indicated that the defect was not expressed in these cells either. These results imply that there are either isoforms of complex III components which show differential tissue expression or that independent segregation and assortment of defective mitochondria has occurred during development.

Culture Techniques↗

Frequency of the fragile X syndrome in Japanese mentally retarded males.

Among 243 institutionalized mentally retarded males in Japan, 13 patients (5.3%) with the fra(X)(q27) from nine families were detected. These 13 patients accounted for 8.6% of 152 male inmates with unknown causes of mental retardation in the population. One out of nine pedigrees had an apparently unaffected male transmitter of this disorder. Our data agree with the frequencies of the fra(X) syndrome in various retarded populations, most of which were Caucasians, suggesting that the prevalence of the fra(X) syndrome in Japanese is not significantly different from those in Caucasians.

Adolescent↗

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis. VIII. Genetic polymorphism of cytosol polypeptide with molecular weight of 20,000.

We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 20,000 detected in lymphocytes and erythrocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, and 2-2) of the polypeptide have been identified in a Japanese population. Family studies indicate that the phenotypes are determined by two common alleles at a single autosomal locus. The polypeptide is present in the cytosol of various kinds of cells and is abundant in erythrocytes. The data on a gel filtration of the erythrocyte cytosol proteins on a Sephadex G-100 column suggest that the polypeptide exists as a dimer in cells. In nine out of 79 individuals, the phenotypes of the polypeptide were different from those of glyoxalase 1 (GLO1) which has similar properties in subunit size, cell distribution, and allele frequencies. These data indicate that the polypeptide with mol. wt. of 20,000 is a new polymorphic cellular polypeptide. We propose that the polypeptide be temporarily designated as cytosol polypeptide with mol. wt. of 20,000 (CP20) and that the gene for CP20 be designated as CP20. The gene frequencies of two common alleles (CP20(1) and CP20(2) are 0.955 and 0.045, respectively, in a Japanese population.

Blood Proteins↗