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Biomedical subjects

T Miki

Publications and source records attributed to T Miki.

At least 559 records · Page 31Linked to original sources
PubMed1994

Carrier detection of Werner's syndrome using a microsatellite that exhibits linkage disequilibrium with the Werner's syndrome locus.

Werner's syndrome (WS) is a rare autosomal recessive disorder, one of the progeroid syndromes, characterized by features of premature aging. The genetic defect in WS is unknown but recently the genetic linkage of WS to several markers on the short arm of chromosome 8 has been reported. Genetic analysis of 25 families with WS demonstrated that D8S339 was the closest marker linked to the gene locus for Werner's syndrome (WRN), with a peak lod score of 18.29 at recombination frequency 0.001, and showed a linkage disequilibrium with the WRN locus. We studied two unrelated families with WS using ANK1, D8S339, and D8S360. The mutative haplotype identified through the generations in pedigrees provides a means of carrier detection and presymptomatic diagnosis.

Female↗
PubMed1994

Total body and regional bone mineral content in hemodialysis patients.

Bone mineral content (BMC) in the total body and lumbar spine was evaluated in 126 hemodialysis patients (60 males, 66 females) by dual photon absorptiometry with the Norland DBD 2600. Measurements of: 1) total body BMC divided by lean body mass (BMCTB/LBM), 2) bone mineral density (BMD) of total body, 3) BMD of four regional sections (head, trunk, pelvis, and legs), and 4) BMD of lumbar spine, generally showed a significant decrease in the hemodialysis patients compared to the reference population. However, arm BMD did not show a significant difference between patients and control populations. The z-score of BMCTB/LBM declined significantly throughout the duration of hemodialysis, although that of the lumbar spine BMD did not. It should be noted that the degree of decrease in BMC was more prominent in the total body measurement than in the lumbar spine measurement. There was preferential osteopenia of the total body in the hemodialysis patients. Although the lumbar spine BMD showed a lower value than the control population, the lumbar spine is not the recommended region to monitor the BMD change in hemodialysis patients.

Absorptiometry, Photon↗
PubMed1994

Echocardiographic findings in 104 professional cyclists with follow-up study.

To assess the effect of long-term athletic training on the heart, 104 professional cyclists and 40 sedentary controls (69 younger cyclists and 26 controls aged 20 to 39 and 35 older cyclists and 14 controls aged 40 to 60) were examined by using M-mode and pulsed Doppler echocardiography. Cyclists had larger and more hypertrophied left ventricle than did controls (p < 0.001) and had normal percentages of fractional shortening (%FS). The ratio of left ventricular late-to-early diastolic peak filling velocity (A/R) of younger cyclists was normal, but the A/R of older cyclists was larger than that of controls (p < 0.001). Of the 104 cyclists, 95 continued cycling and were reexamined 2 years later; 9 of 40 older cyclists retired and were reexamined 20 +/- 8 months after retirement. During the follow-up period for the active cyclists, left ventricular dilatation, hypertrophy, and %FS of both younger and older cyclists and the A/R of younger cyclists did not change. However, the A/R of older cyclists increased (p < 0.01). For the nine retired cyclists, left ventricular dimension decreased (p < 0.001), left ventricular wall thickness and %FS did not change, and A/R increased (p < 0.05) after retirement. We concluded that (1) cyclists had large and hypertrophied left ventricles with normal systolic function, and (2) some cyclists with long-term athletic training may have partly irreversible left ventricular hypertrophy with impaired left ventricular diastolic filling.

Adult↗
PubMed1994

A case of lymphocytic hypophysitis with massive fibrosis and the role of surgical intervention.

Four weeks after a normal delivery, a 33-year-old woman was admitted to our hospital with visual disturbance, hypopituitarism, and diabetes insipidus. A homogeneously enhanced pituitary mass with suprasellar extension was observed. Presurgical steroid therapy was ineffective. A transsphenoidal approach revealed a firm white mass, which was histologically diagnosed as a lymphocytic hypophysitis with massive fibrosis. Lymphocytic hypophysitis shows a variety of clinical courses, and there are various problematic aspects concerning the histologic stage as well as the differential diagnosis. However, it is difficult to speculate concerning these without histologic studies. Cases with massive fibrosis, spontaneous resolution, or positive effects of steroids may be less likely.

Adult↗
PubMed1994

Effect of freeze-dried poly-L-lactic acid discs mixed with bone morphogenetic protein on the healing of rat skull defects.

Porous poly-L-lactic-acid discs were prepared by a freeze-drying method (FDPLLA). During preparation of the discs, semipurified bone morphogenetic protein (BMP) was mixed with the poly-L-lactic acid (500 micrograms BMP per disc). The discs were implanted in the skull defects of rats and retrieved after 2 or 4 weeks. With the FDPLLA/BMP discs, new bone formation was observed at 2 weeks after implantation. On the other hand, plain FDPLLA discs failed to produce new bone formation even at 4 weeks after implantation. Calcium content of the retrieved FDPLLA/BMP discs was statistically higher than that of plain FDPLLA discs. These results suggest that FDPLLA may be an effective delivery system for BMP and that the FDPLLA/BMP disc may potentially have usefulness as a bone graft substitute.

Animals↗
PubMed1994

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

The mouse microphthalmia (mi) gene encodes a basic-helix-loop-helix-zipper protein whose mutations may lead to loss of pigmentation in the eye, inner ear and skin, and to reduced eye size and early onset deafness. Mice with mutations at mi serve as models for human pigment disturbances in skin and eye that may be combined with sensorineural deafness. We have now obtained cDNA and genomic clones of the human homolog of mouse mi, identified a restriction fragment length polymorphism in the gene, and mapped the gene by somatic cell hybrid and fluorescence in situ hybridization techniques to a region of human chromosome 3 that shows a disrupted syntenic conservation with the region on mouse chromosome 6 to which mi maps. These studies will help to verify if any of the hereditary pigment disturbances in humans are due to mutations in this gene.

Amino Acid Sequence↗
PubMed1994

Lysozyme requires fluctuation of the active site for the manifestation of activity.

Mutations around His15 which lie far away from the active site, stimulated glycol chitin activity of lysozyme at physiological temperature. Del-Arg14His15 lysozyme, a mutant lysozyme whose Arg14 and His15 were deleted together, and has the highest activity among these mutant lysozymes, had a similar binding ability to a trimer of N-acetyl-glucosamine, a substrate analogue, relative to native lysozyme. This suggests that the increased activity was due to an increased kcat in the catalysis reaction. The H-D exchange rate of the N-1 proton in the Trp63 which is located in the active site cleft, was enhanced in the Del-Arg14His15 lysozyme, while 2-D proton NMR analysis revealed no conformational change around Trp63. We conclude that some sort of fluctuation at the active site might be required for the manifestation of activity. This theory is supported by the finding that the Del-Arg14His15 lysozyme showed a shift in temperature dependency of activity to lower temperatures compared with that of native lysozyme.

Acetylglucosamine↗
PubMed1994

Variant translocation of the BCL6 gene to immunoglobulin kappa light chain gene in B-cell lymphoma.

A lymphoma cell line with a variant type of translocation, t(2;3)(p11;q27), was established from a patient who had received liver transplantation. To elucidate the molecular mechanism of the t(2;3)(p11;q27) chromosomal translocation, we compared the structures of both derivative (der) chromosomal breakpoints with those of their germline predecessors. We noted that the BCL6 gene on chromosome 3 was juxtaposed with the immunoglobulin kappa light chain (Ig kappa) gene on chromosome 2 in a head-to-head configuration. The breakpoint of the BCL6 gene was within a previously reported breakpoint cluster region. The breakpoint on chromosome 2 was within the intron between the leader (L) and variable (V) sequences of one of the V kappa genes, which was fused to the J kappa 3 (J = joining) segment. At chromosomal junctures, a direct repeat duplication of chromosome 3 sequences and a deletion of chromosome 2 sequences were discovered. These results are consistent with a translocation model with illegitimate pairing of staggered double-stranded DNA breaks at 3q27 and 2p11, repair, and ligation to generate der(3) and der(2) chromosomes.

Base Sequence↗
PubMed1994

Loss of flagellation in dnaA mutants of Escherichia coli.

A dnaA46 mutant of Escherichia coli showed loss of motility at 37 degrees C, a permissive temperature for cell growth of this mutant. Other dnaA mutations near the middle of the gene also caused an immotile phenotype. The amount of flagellin was much less in the dnaA46 mutant than in the wild-type control, as was the promoter activity. DnaA protein may play an important role in expression of the fliC gene.

Bacterial Proteins↗
PubMed1994

A case of paternally inherited congenital myotonic dystrophy.

We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest expansion in the younger of the two CDM sisters. This family shows that exceptionally it is possible for CDM to be inherited paternally and refutes the hypothesis that CDM is exclusively of maternal origin. This contradicts several of the previous hypotheses concerning the mechanisms by which the CDM phenotype arises.

Adolescent↗