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Biomedical subjects

C Inoue

Publications and source records attributed to C Inoue.

At least 19 recordsLinked to original sources

Acute monocytic leukaemia in a cat.

A three-year-old cat with lymphadenopathy, non-regenerative anaemia and marked leucocytosis (171.3 x 10(9) white blood cells/l) was diagnosed with monocytic leukaemia and treated with a combination of anticancer drugs. A number of mature and immature monocyte-like cells were detected in the peripheral blood and bone marrow; they proved to be monocytic cells by cytochemical examination and an analysis of their cell surface phenotype, indicating that the cat suffered from acute myeloid leukaemia, subclassified as monocytic leukaemia (M5). Treatment with cytarabine, doxorubicin, vincristine and prednisolone greatly reduced the number of blast cells in the cat's peripheral blood and bone marrow. The cat was in partial remission for 67 days and survived for 95 days after it was first examined.

Animals↗

The basic helix-loop-helix gene hesr2 promotes gliogenesis in mouse retina.

Members of a subclass of hairy/Enhancer of split [E(spl)] homologs, called hesr genes, are structurally related to another subclass of hairy/E(spl) homologs, Hes genes, which play an important role in neural development. To characterize the roles of hesr genes in neural development, we used the retina as a model system. In situ hybridization analysis indicated that all hesr genes are expressed in the developing retina, but only hesr2 expression is associated spatially with gliogenesis. Each member was then misexpressed with retrovirus in the retinal explant cultures prepared from mouse embryos or neonates, which well mimic in vivo retinal development. Interestingly, hesr2 but not hesr1 or hesr3 promoted gliogenesis while inhibiting rod genesis without affecting cell proliferation or death, suggesting that the cells that normally differentiate into rods adopted the glial fate by misexpression of hesr2. The gliogenic activity of hesr2 was more profound when it was misexpressed postnatally than prenatally. In addition, double mutation of the neuronal determination genes Mash1 and Math3, which increases Müller glia at the expense of bipolar cells, upregulated hesr2 expression. These results indicate that, among structurally related hesr genes, only hesr2 promotes glial versus neuronal cell fate specification in the retina and that antagonistic regulation between hesr2 and Mash1-Math3 may determine the ratios of neurons and glia.

Animals↗

Math6, a bHLH gene expressed in the developing nervous system, regulates neuronal versus glial differentiation.

BACKGROUND: Whereas multiple basic helix-loop-helix (bHLH) genes are expressed in the developing nervous system, they account for the differentiation of only subsets of neurones, suggesting that there may be as-yet unidentified bHLH genes. RESULTS: We have isolated a novel bHLH gene, designated Math6, a distant mammalian homologue of the Drosophila proneural gene atonal. Structural analysis of the Math6 gene demonstrated that the coding region is divided into three exons, whereas that of other atonal homologues is present in a single exon, indicating that the genomic structure of Math6 is unique among the atonal homologues. Math6 is initially expressed by neural precursor cells in the ventricular zone, but later by subsets of differentiating and mature neurones such as hippocampal neurones and cerebellar Purkinje cells. Mis-expression of Math6 with retrovirus in the developing retina induced neurogenesis, while inhibiting gliogenesis, without affecting cell proliferation and death. CONCLUSIONS: These results show that cells which would normally differentiate into glia adopted the neuronal fate by mis-expression of Math6, indicating that Math6 promotes neuronal vs. glial fate determination in the nervous system.

Amino Acid Sequence↗

Presence of Propionibacterium acnes in blood components.

BACKGROUND: Sterility testing, as part of the QC of blood components at the Japanese Red Cross Aichi Blood Center between April 1998 and March 2000, showed that 10 of 5568 tested blood components (0.18%), all of which were RBC concentrates, were contaminated with bacteria. Nine isolates were Propionibacterium acnes and one was Staphylococcus capitis. STUDY DESIGN AND METHODS: To investigate the molecular relatedness of eight available P. acnes isolates, 16S rRNA gene analysis and random amplified polymorphic DNA (RAPD) analysis were performed. RESULTS: DNA sequencing analysis of the 16S rRNA gene showed that five isolates were identified as distinct strains and that three had identical sequences. RAPD analysis in the latter three isolates showed that two exhibited indistinguishable banding patterns that differed from that of the third isolate. CONCLUSION: P. acnes was the most frequent contaminant of blood components, and six of eight isolates were molecularly unrelated. Further studies are necessary to investigate the precise mechanisms of contamination.

Erythrocytes↗

Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.

To facilitate a rapid and practical molecular diagnosis of 21-hydroxylase deficiency (21-OHD), we developed a polymerase chain reaction (PCR) test in which only the 21-OH gene (CYP21) is amplified. We applied the test to diagnose 23 patients with salt-wasting type of 21-OHD. The upstream and downstream sequences of CYP21 have been specifically amplified by using a primer set containing the 8-bp deletion sequence of exon 3, which is distinct from its pseudogene CYP21P. The amplified PCR products were further subjected to mutation detection by restriction analysis: E1PL by AciI, I2g by PstI, E63a by DraIII, E7VL by ApaLI, E8non by PstI, and E8RW by AciI. To detect delections and/or gene conversions occurring on exon 3, we used the method described by Rumsby and Honour [1990: J Med Genet 27:676-678]. Our method is able to elucidate 8 common CYP21 mutations by using only 3 primer pairs and 4 restriction enzymes. The overall detection ratio of abnormal haplotypes by this method was over 95%, indicating that our method is practical and useful, particularly for carrier detection.

Adrenal Hyperplasia, Congenital↗

A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.

The human SOX9 gene is responsible for the campomelic syndrome (CMPS) and sex reversal. This gene encodes a transcription factor containing a DNA binding domain homologous to the SRY high mobility group (HMG) domain. A novel mutation of SOX9, i.e. a single G deletion in one allele at nt 296 from A of the first ATG in the open reading frame, was identified in a patient with CMPS with sex reversal. The deletion resulted in a frameshift mutation upstream of the HMG box and a stop codon 30 bp downstream of the HMG box. The predicted truncated SOX9 protein contained 108 amino acids instead of the 509 amino acids of the normal SOX9 protein, removing nearly 80% of the SOX9 protein, including the HMG and the C-terminal transactivation domain. Most patients with CMPS reported previously died within the neonatal period. Our findings that the patient has survived, although has been in daily need of mechanical ventilation support for 5 years and 3 months despite a severely impaired SOX9 protein, do not support a linear relationship between the type of mutation and severity of the clinical outcome.

Abnormalities, Multiple↗

The validity and reproducibility of an oral rating index as a measurement of gingival health care and oral hygiene level in adults.

The purpose of this study was to investigate the validity and reproducibility of an oral rating index (ORI) as a conceptual measurement of "gingival health care" level in adults. The study was conducted on 163 patients who received medical examinations and attended for dental checkups at a hospital. The score of the ORI was recorded as excellent (+2), good (+ 1), questionable (0), poor (-1) or very poor (-2). The validity of the ORI was investigated by comparing it with: Jackson's gingivitis index (GI); Greene & Vermillion's debris index (DI) and calculus index (CI); probing pocket depth (PPD); and percentage of bleeding on probing (%BOP). The intra- and inter-examiner reproducibility of the ORI was assessed on a flat screen using patients' color transparencies of the mouth. The ORI had significantly negative correlations with the GI, DI, CI, and PPD (p<0.001). The K values were 0.604-0.672 for intra-examiner reproducibility, and 0.441-0.449 for inter-examiner reproducibility. The present study suggests that the ORI has moderate to good intra-examiner and inter-examiner reproducibility. Mouth examination using the ORI appears to provide useful information that will enable a dental professional or health educator to make sensible decisions on the type and level of oral health instruction according to adults' gingival health care level.

Adult↗

Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.

Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. This complex is composed of four subunits, GPIbalpha, GPIbbeta, GPIX and GPV. We describe here the genetic basis of the disorder in a patient with BSS. Flow cytometric analysis of the patient's platelets showed greatly reduced GPIbalpha and GPIX surface expression. Immunoblot analysis disclosed absence of GPIbalpha, GPIbbeta and GPIX in the platelets. DNA sequencing analysis revealed a novel missense mutation in the GPIbbeta gene that converts Pro (CCG) to Arg (CGG) at residue 74. Homozygosity of the mutation was confirmed by allele-specific restriction analysis, chromosome 22 microsatellite analysis and quantitative Southern blotting. The mutant GPIbbeta was normally transcribed. Transient transfection studies confirmed that mutant GPIbbeta impairs surface expression of GPIb/IX, showing that the mutation is responsible for a BSS phenotype observed in the patient.

Amino Acid Substitution↗

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

Cytochrome c oxidase (COX) deficiency is the most common cause of Leigh syndrome (LS). COX consists of ten nuclear-encoded and three mtDNA-encoded structural subunits. Although the nucleotide sequences of all 13 genes are known, no mutation was found in nuclear-encoded subunit genes of COX-deficiency patients. Zhu et al. (1998) and Tiranti et al. (1998) found nine mutations in the surfeit 1 (SURF1) gene in LS families with COX deficiency. The mouse surfeit gene cluster consists of six closely spaced housekeeping genes unrelated by sequence homology. Except for the Surf3 gene, the function is still not known. The juxtaposition of at least five of the surfeit genes is conserved between birds and mammals. We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis. Firstly, a 2-bp deletion at nucleotide position 790 (790delAG) in exon 8 was found, which shifts the reading frame such that the mutant protein has a completely different amino acid sequence from codon 264 to the premature stop codon at 290. Secondly, we found a T-to-G transversion at nucleotide 820, resulting in the substitution of tyrosine by aspartic acid at codon 274 (Y274D). We also studied the parents' genes, and found that the Y274D mutation was in his father and the 790delAG mutation was in his mother heterozygously. Therefore, we concluded that the patient was a compound heterozygote with these mutations. These are the first pathogenetic SURF1 mutations identified in a Japanese family.

Amino Acid Substitution↗

Enhancement of the specific growth rate of Thiobacillus ferrooxidans by diatomaceous earth.

Diatomaceous earth is an effective carrier with a large surface area on which Thiobacillus ferrooxidans adsorbs, and enhances the oxidation rate of ferrous ions by the bacterium. The adsorption of T. ferrooxidans on diatomaceous earth was expressed by the Henry isotherm, and reached equilibrium within five minutes. The enhancement was due to an increase in the growth rate of the adsorbed cells, which were so active that their specific growth rate calculated using a Monod-type equation was higher than that of the free cells in the liquid phase.

Journal Article↗

[Effect of intravenous immunoglobulin therapy in a case of idiopathic recurrent brachial and lumbosacral plexopathy].

We report a case of a 23-year-old woman with idiopathic brachial and lumbosacral plexopathy who presented a relapsing course of weakness and numbness following acute onset of pain in the right shoulder or pelvic girdle area. On her first admission, the patient recovered gradually with oral prednisolone. But after about 1 year, her symptoms worsened. In the second admission, oral prednisolone had no effect on her symptoms, so intravenous immunoglobulin (IVIG; 0.1 g/kg/day, 5 days) therapy was tried. The patient improved about 2 weeks after IVIG therapy. About 1 year later, her symptoms worsened and was administered again. In the third admission, IVIG therapy of which dose was the same as that in the previous admission had an effect on her symptoms. The dose of IVIG in our case was relatively low, compared with those in cases reported before (0.2-2 g/kg/day). This findings suggest that a relatively low-dose IVIG therapy is effective for idiopathic plexopathy.

Adult↗

Changes in muscle strength properties caused by harvesting of autogenous semitendinosus tendon for reconstruction of contralateral anterior cruciate ligament.

A prospective study was conducted of how the muscle strength of the donor knee is affected by harvesting of the autogenous semitendinosus tendon (St) for use as a substitute graft material in cruciate ligament reconstruction. There were 25 patients from whom only the St was harvested from the contralateral (i.e., healthy/donor) knee. Using a Biodex System II (Biodex, New York, NY), the strength of the donor knee was measured during both extension and flexion, both before and 12 months after the tendon harvesting procedure. A comparative study was made of the preharvest and postharvest values for the peak torque and peak torque angle in the isokinetic contraction. There were no statistically significant differences between the preharvest and postharvest peak torque values of the donor knee. However, the peak torque angle decreased significantly after the tendon harvest; the range of the mean decrease was from 11.7 degrees to 15.0 degrees. This indicates that there was a change to a small flexion angle (P < .05). After the tendon harvest, regardless of the applied angular velocity, more than 80% of the cases showed a change of torque curve shape in which there was no peak in the latter half, and the position of the peak was shifted to the left. In conclusion, the results of this study indicate that harvesting of the autogenous St does not affect the peak torque, but the peak torque angle during flexion of the donor knee is reduced.

Adolescent↗

The detection model of recognition using know and remember judgments.

The signal detection model for know and remember recognition judgments was tested in two experiments. In Experiment 1, two predictions of the model were tested: (1) that measures of memory sensitivity, A', are equivalent in value when based on either the recognition (know or remember) criterion or on the remember criterion; and (2) that there is a positive correlation between recognition bias and the proportion of know judgments that are hits, but no correlation between recognition bias and proportion of remember hits (Donaldson, 1996). Both predictions were supported by the data. In Experiment 2, the context of test items was manipulated to make it more or less similar to learning context. The detection model requires that memory sensitivity be the same for both recognition and remember judgments, regardless of test context. Alternatively, if remember judgments reflect only the retrieval of episodic information from memory, the two measures of memory sensitivity should become more disparate in value as learning and test context are made more similar. Memory sensitivity was generally the same in value for recognition and remember criteria but different across context conditions, thus supporting the detection model. The nature of the memory continuum used in detection theory is also discussed.

Adult↗

Study of rapidity and quality for the VITEK susceptibility cards with 45 wells.

VITEK 45 wells Card was evaluated. Recent clinical isolates of gram-positive cocci (107) and gram-negative bacilli (179) were antimicrobial susceptibility testing by VITEK system in comparison with MIC-2000 system. The antimicrobial susceptibility results were available within of 8 h for gram-positive cocci without a part of MRSA. Enterobac-teriaceae were available within of 8 h and Pseudomonas aeruginosa were from 8 to 11 h. The antimicrobial susceptibility data had disagreement of 60% with EM, 46% with CLDM for Enterococcus faecium, 50% with CMZ for Citrobacter freundii, and 71% with CTM for Morganella morganii, whereas it was satisfactory agreement of 97.5% for gram-positive cocci and 98.2% for gram-negative bacilli. In using this procedure it was possible to provide accurate and rapid results of anti-microbial susceptibility tests for all organisms.

Enterobacteriaceae↗