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Biomedical subjects

N Matsuo

Publications and source records attributed to N Matsuo.

At least 91 records · Page 5Linked to original sources
PubMed1999

A case of menstruation-associated asthma: treatment with oral contraceptives.

A menstrual rhythm has been documented for exacerbations of asthma, which may have important clinical relevance to the patient with severe asthma. We report the case of a 26-year-old patient with menstruation-associated asthma who showed a dramatic response to oral contraceptives. It was noted that falls in peak respiratory flow rate coincided with ovulation. We concluded that oral contraceptive therapy is useful in this particular group of asthmatic patients.

Adult↗
PubMed1999

Setting up an automated system for evaluation of bone age.

The "Tanner-Whitehouse 2" method is the most popular in evaluating skeletal maturation, but this method has some inherent weak points. We therefore developed the new system to automatically evaluate the skeletal maturation of Japanese children by means of a personal computer. The subjects of this study were 318 healthy Japanese boys and 199 girls ranging from 2 to 15 years of age. The bone age was calculated by multiple regression analysis with parameters for the epiphysis and metaphysis. Successful automatic evaluation was about 80-90% on each phalanx. There was a significant correlation between chronological age and the ratio of epiphyseal width to metaphyseal width. The system developed in this study was useful for evaluating the skeletal maturation.

Adolescent↗
PubMed1999

Peripheral arterial coil embolization for hepatic arteriovenous malformation in Osler-Weber-Rendu disease; useful for controlling high output heart failure, but harmful to the liver.

A 55-year-old Japanese housewife, who had Osler-Weber-Rendu disease, was admitted to our hospital because of frequent epistaxis and worsening exertional dyspnea. The computed tomography and hepatic arteriography revealed large hepatic arteriovenous malformation, which was considered to be the leading cause of her high output heart failure. Two series of hepatic arterial coil embolization procedures were performed to reduce hepatic shunt flow. They temporarily improved her cardiac condition, but gradually induced progressive hepatic failure due to intrahepatic cholangitis. Hepatic dysfunction restricted her quality of life and lead to a fatal clinical course one year after the second coil embolization.

Arteriovenous Malformations↗
PubMed1999

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11.

We report on deletion mapping and X inactivation analysis of a gene for X linked non-specific mental retardation (MRX) at Xp21.3-Xp22.11, on the basis of molecular studies in two families with Xp microdeletions involving the DAX-1 gene. In family A, mental retardation (MR) was profound in the older brother with an episode of adrenal crisis, severe in the younger brother with no episode of adrenal crisis, and mild to moderate in the sister and the mother with no signs of adrenal hypoplasia. In family B, MR was absent in the male patient with adrenal hypoplasia. Polymerase chain reaction for 16 loci in the middle of Xp showed that the brothers of family A had a small Xp deletion between DXS7182 and DXS1022, and that the patient of family B had a tiny Xp deletion between DXS319 and DXS1022. Microsatellite analysis for tetranucleotide repeats in the promoter region of the DAX-1 gene and Southern blotting for DAX-1 and DXS28 showed that the sister and the mother of family A were heterozygous for the interstitial deletion. X inactivation analysis for the methylation status of the AR gene and the HPRT gene indicated that the normal X and the deleted X chromosome underwent random X inactivation in both the sister and the mother. The results imply that an MRX gene subject to X inactivation is present in a roughly 4 Mb region between DXS7182 and DAX-1, and that reduced expression of the normal MRX gene caused by random X inactivation results in MR in carrier females.

Child↗
PubMed1998

Cloning and developmental expression of the murine homolog of doublecortin.

While analyzing active genes in neonatal mouse hippocampus by quantitative 3'-cDNA collection, we identified a highly conserved murine homolog of doublecortin, the causative gene of X-linked lissencephaly (XLIS) and subcortical laminar heterotopia (SCLH) syndrome. The m-doublecortin cDNA contains nearly 8 kb 3' UTR homologous to hs-doublecortin and it was mapped to the X chromosome. The expression of m-doublecortin is limited to the developing CNS, especially the cortical plate, supporting that XLIS/SCLH syndrome is associated with an arrest of neuronal migration in the cerebral cortex. The m-doublecortin mRNA was absent in the ventricular zone where neuronal precursors proliferate, and interestingly it was found in various brain structures that are not typically affected in patients with this syndrome.

Amino Acid Sequence↗
PubMed1998

A sequence-specific splicing activator, tra2beta, is up-regulated in response to nerve injury.

Tra2beta is the first mammalian protein which is proved to activate mRNA splicing in sequence-specific manner. Following hypoglossal nerve injury, the expression of Tra2beta mRNA was elevated in injured motoneurons transiently. The up-regulation of Tra2beta mRNA was observed from post-operative day 3 to 21. In addition to the nerve injury in PNS, a brain lesion in CNS also enhanced the expression of Tra2beta mRNA. The present study could be the first observation showing that an expression of the sequence-specific splicing activator is enhanced in neuronal cells in response to nerve injury, and indicates that Tra2beta may participate in the control of injury-specific splicing patterns in order to express molecules which are necessary for regeneration.

Animals↗
PubMed1998

A novel SCG10-related gene uniquely expressed in the nervous system.

We have isolated a novel cDNA (HiAT3: hippocampus abundant transcript 3) in the course of screening for genes that are preferentially expressed in neonatal mouse hippocampus using random 3'-directed cDNA sequencing approach. It encodes a 180-aa protein that has high similarity to SCG10, a neuron-specific negative regulator of microtubule dynamics during neurite outgrowth. The expression of HiAT3 is limited to neurons and peaks about 1 week after birth. The identification of HiAT3 suggests that there may be an elaborate destabilizing regulation for microtubule dynamics in neurons in addition to the stabilizing effect of multiple microtubule-associated proteins (MAPs).

Amino Acid Sequence↗
PubMed1998

Phenotypic discordance in monozygotic twins with 22q11.2 deletion.

We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardation, whereas twin 2 had a characteristic facial appearance but no other signs of the 22q11 deletion syndrome. Fluorescence in situ hybridization analysis showed a microdeletion on chromosome 22q11.2 in both twins. Zygosity analysis gave a probability of monozygosity greater than 99.999%. These observations indicate that environmental factors or postzygotic events play a role in the phenotypic variability in the twins.

Abnormalities, Multiple↗
PubMed1998

Purification, cDNA cloning, and expression of UDP-Gal: glucosylceramide beta-1,4-galactosyltransferase from rat brain.

Lactosylceramide synthase is an enzyme that catalyzes the transfer of galactose from UDP-Gal to glucosylceramide, and thus participates in the biosynthesis of most glycosphingolipids in mammals. We purified this enzyme over 61,000-fold to near homogeneity with a 29. 7% yield from rat brain membrane fractions. The isolation procedure included solubilization with Triton X-100, affinity chromatography on wheat germ agglutinin-agarose and UDP-hexanolamine-agarose, and hydroxylapatite column chromatography, followed by ion exchange chromatography. The final preparation migrated as a broad band with an apparent molecular mass of 61 kDa on SDS-polyacrylamide gel electrophoresis. This apparent molecular mass was reduced to 51 kDa by N-glycanase digestion, suggesting that the enzyme has a glycoprotein nature. The enzyme required Mn2+ for its activity, and glucosylceramide was its preferred substrate. The cDNA for the enzyme was cloned from a rat brain cDNA library. The cDNA insert encoded a polypeptide of 382 amino acid residues, with a molecular weight of 44,776. The polypeptide contained eight putative glycosylation sites and a 20-amino acid residue transmembrane domain at its N terminus. Amino acid sequence homology analysis revealed that this enzyme shared 39% homology with mouse beta-1, 4-galactosyltransferase (EC 2.4.1.38), which catalyzes the transfer of Gal to beta-1,4-GlcNAc in glycoproteins.

Amino Acid Sequence↗
PubMed1998

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

X-linked liver glycogenosis (XLG) resulting from phosphorylase kinase (Phk) deficiency is one of the most common forms of glycogen storage disease. It is caused by mutations in the gene encoding the liver isoform of the Phk alpha subunit (PHKA2). In the present study, we address the issue of phenotypic and allelic heterogeneity in XLG. We have identified mutations in seven male patients. One of these patients represents the variant biochemical phenotype, XLG subtype 2 (XLG2), where Phk activity is low in liver but normal or even elevated in erythrocytes. He carries a K189E missense mutation, which adds to the emerging evidence that XLG2 is associated with missense mutations clustering at a few sites. Two patients display clinical phenotypes unusual for liver Phk deficiency, with dysfunction of the kidneys (proximal renal tubular acidosis) or of the nervous system (seizures, delayed cognitive and speech abilities, peripheral sensory neuropathy), respectively, in addition to liver glycogenosis. In the patient with kidney involvement, we have identified a missense mutation (P399S) and a trinucleotide deletion (2858del3) leading to the replacement of two amino acids by one new residue (N953/L954I), and a missense mutation has also been found in the patient with neurological symptoms (G1207W). These two cases demonstrate that PHKA2 mutations can also be associated with uncommon clinical phenotypes. Finally, in four typical XLG cases, we have identified three truncating mutations (70insT, R352X, 567del22) and an in-frame deletion of eight well-conserved amino acids (2452del24). Together, this study adds eight new mutations to the previously known complement of sixteen PHKA2 mutations. All known PHKA2 mutations but one are distinct, indicating pronounced allelic heterogeneity of X-linked liver glycogenosis with mutations in the PHKA2 gene.

Amino Acid Sequence↗
PubMed1998

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.

This paper describes a female infant with microphthalmia with linear skin defects syndrome (MLS) and monosomy for the Xp22 region. Her clinical features included right microphthalmia and sclerocornea, left corneal opacity, linear red rash and scar-like skin lesion on the nose and cheeks, and absence of the corpus callosum. Cytogenetic studies revealed a 45,X[18]/46,X,r(X)(p22q21) [24]/46,X,del(X)(p22)[58] karyotype. Fluorescence in situ hybridization analysis showed that the ring X chromosome was positive for DXZ1 and XIST and negative for the Xp and Xq telomeric regions, whereas the deleted X chromosome was positive for DXZI, XIST, and the Xq telomeric region and negative for the Xp telomeric region. Microsatellite analysis for 19 loci at the X-differential region of Xp22 disclosed monosomy for Xp22 involving the critical region for the MLS gene, with the breakpoint between DXS1053 and DXS418. X-inactivation analysis for the methylation status of the PGK gene indicated the presence of inactive normal X chromosomes. The Xp22 deletion of our patient is the largest in MLS patients with molecularly defined Xp22 monosomy. Nevertheless, the result of X-inactivation analysis implies that the normal X chromosomes in the 46,X,del(X)(p22) cell lineage were more or less subject to X-inactivation, because normal X chromosomes in the 45,X and 46,X,r(X)(p22q21) cell lineages are unlikely to undergo X-inactivation. This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy.

Chromosome Mapping↗
PubMed1998

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome?

A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues.

Abnormalities, Multiple↗
PubMed1998

Adjuvant chemotherapy after radical hysterectomy for cervical carcinoma: a comparison with effects of adjuvant radiotherapy.

OBJECTIVE: To compare the efficacy of adjuvant chemotherapy after radical hysterectomy with that of adjuvant radiotherapy. METHODS: One hundred one women with invasive cervical carcinoma (stage IB through early stage IIB) underwent radical hysterectomy at Saga Medical School Hospital. Of these patients, 53 with squamous or adenosquamous carcinoma were classified as high risk, based on the presence of one or more of the following high-risk factors for recurrence: 1) lymph node metastasis, 2) deep cervical stromal invasion (greater than 3/4 thickness), and 3) parametrial invasion. Adjuvant chemotherapy with a combination of cis-diamminedichloroplatinum (CDDP), vincristine, mitomycin C, and peplomycin (POMP), was prescribed. The outcome was compared with that for 127 patients who were classified as high risk under the same criteria and who received adjuvant radiotherapy at Kyushu University Hospital. RESULTS: The 5-year survival rates were much the same: 83.0% for adjuvant chemotherapy and 81.7% for adjuvant radiotherapy. In the chemotherapy group, intra- and extrapelvic recurrences accounted for 85 and 23% of all recurrences, respectively, whereas recurrences were noted for 38 and 71% in the radiotherapy group, respectively (P < .01). CONCLUSION: The use of adjuvant chemotherapy reduces extrapelvic recurrences. The combination of both adjuvant therapies may improve the prognosis for high-risk patients.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1998

Feeder vessel photocoagulation of subfoveal choroidal neovascularization secondary to age-related macular degeneration.

PURPOSE: This study aimed to assess the feasibility of laser photocoagulation of feeder vessels of subfoveal choroidal neovascularization (CNV) secondary to age-related macular degeneration. PATIENTS AND METHODS: Of 170 consecutive patients with subfoveal CNV secondary to age-related macular degeneration, feeder vessels were detected in 37 patients by means of indocyanine green videoangiography using a scanning laser ophthalmoscope. Dye laser photocoagulation was applied to extrafoveal feeder vessels, with the fovea spared. RESULTS: Twenty-six (70%) of those 37 patients had complete resolution of exudative manifestations. Persistent or worsened manifestations were seen in 11 patients (30%) because of recurrent CNV or persistent CNV. The visual acuity improved or stabilized in 25 patients (68%). Ten patients (27%) had a final visual acuity of 20/40 or better and six patients (16%) had a final visual acuity of 20/50 to 20/100. Significant factors prognostic of the visual outcome of 20/100 or better were small CNV (2 disc areas or smaller, Fisher's exact probability test, P = 0.041), the absence of white, fibrous tissue in neovascular membranes (Fisher's exact probability test, P = 0.003), and the closest distance of laser burns to the center of the foveal avascular zone (Fisher's exact probability test, P = 0.049). Preoperative visual acuity had a significant positive correlation with final visual acuity (Spearman's rank correlation test, P = 0.0076). CONCLUSION: Feeder vessel photocoagulation should be considered as a treatment option for subfoveal CNV secondary to age-related macular degeneration, because no other treatment method has a better visual outcome.

Aged↗
PubMed1998

Cloning of a gene, YT521, for a novel RNA splicing-related protein induced by hypoxia/reoxygenation.

To elucidate the role of astrocytes in the stress response of the central nervous system to ischemia, early gene expression was examined in rat cultured astrocytes after the exposure to hypoxia/reoxygenation, and we have previously cloned a novel RNA binding protein, RA301, from the reoxygenated astrocytes. Furthermore, we have now cloned a new gene for RA301 binding protein, termed YT521, by a yeast two-hybrid screening technique to explore RA301 functions. The YT521 cDNA is about 3200 bp long with an open reading frame encoding 712 amino acids. This amino acid sequence contains arginine-aspartic acid-glutamic acid rich region and glutamic acid rich one, and has a low degree of homology with RNA binding proteins such as U1-70k. Northern blot analysis revealed that YT521 mRNA expression was up-regulated in reoxygenated astrocytes. Induction of YT521 mRNA was mediated by endogenously generated reactive oxygen species, as it was suppressed by treatment of the cells with diphenyl iodonium which blocks oxygen-free radical formation by astrocytes. These expression patterns resembled those of RA301 mRNA. Far Western blot analysis showed that YT521 protein was not only interacting with RA301 protein, but also with SC35 and SF2, both of which are splicing factors. These results suggest that YT521 is a novel candidate for RNA splicing-related protein.

Amino Acid Sequence↗
PubMed1998

Annular pancreas diagnosed by single-shot MR cholangiopancreatography.

Magnetic resonance cholangiopancreatography (MRCP) has become widely used due to the rapid advances made as a non-invasive diagnostic method for the pancreatobiliary ducts. We report a case with annular pancreas in an adult in whom the pancreatic duct in the annular portion could be clearly visualized by magnetic resonance cholangiopancreatography, which was very useful for the definite diagnosis as annular pancreas.

Aged↗
PubMed1998

Evidence that immature rat liver is capable of participating in steroidogenesis by expressing 17alpha-hydroxylase/17,20-lyase P450c17.

Steroid hydroxylase cytochrome P450c17 has been previously purified from microsomal fractions of immature rat livers. In this study, we investigated the expression of P450c17 in rat livers to understand a role of steroidogenesis in the extrasteroidogenic tissue. Upon immunoblot analysis utilizing liver microsomes from rats, P450c17 was detected in 1 and 3 week old rats but not in adult rats. Data from immunohistochemical studies also showed a similar age-dependent expression of P450c17 and indicated that P450c17 detected in immature rat livers is localized in cells surrounding interlobular veins. This age-dependent expression of P450c17 in rat livers was observed in both sexes. Upon enzymatic analysis utilizing microsomal fractions from livers, levels of 17alpha-hydroxylase and 17,20-lyase activity for pregnenolone and progesterone increased by 3 weeks and dramatically reduced at 7 weeks, which is consistent with the expression level of P450c17. These data clearly indicate that P450c17 is expressed in immature rat liver to produce 17alpha-hydroxysteroids and C19-steroids. Based upon immunoblot analysis, the expression level of P450c17 in immature rat livers was approximately one third of that in testis. Compared expression level of P450c17 and total volume of organs between liver and testis, the total amount of steroid metabolites produced by liver P450c17 could be greater than that produced by gonadal P450c17. Because of the absence of P450c17 in rat adrenal glands, rat liver could be the major site for producing 17alpha-hydroxysteroids and C19-steroids in this particular period of life. Although physiological products formed by P450c17 in liver and their roles remain to be elucidated, this study suggests a large capacity of prepubertal rat liver for participating the production of steroid hormones and a putative importance of 17alpha-hydroxysteroids and C19-steroids, such as cortisol and androstendione, which are generally believed to be minor components of steroid hormones in rodents.

Animals↗