Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction.
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Base Sequence↗
Biomedical subjects
Y Matsubara
Publications and source records attributed to Y Matsubara.
Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.
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Amino Acid Metabolism, Inborn Errors↗
The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic.
The gene for medium-chain acyl-CoA dehydrogenase (gene symbol ACADM; enzyme symbol MCAD) has been characterized for restriction fragment length polymorphisms (RFLPs) and mapped by linkage analysis to 4.2 cM from D1S2 and 11.7 cM from PGM1. The three RFLP systems described in detail show significant linkage disequilibrium but define four haplotypes with a PIC of 0.58. This makes ACADM informative for linkage mapping and for clinical genetic studies. By linkage studies, the orientation of these three loci relative to the centromere places ACADM most proximal. This is in direct conflict with the regional assignments of ACADM to 1p31 by in situ hybridization and of PGM1 to 1p22.1 by somatic cell studies. We suggest that this somatic cell localization of PGM1 may be incorrect.
Acyl-CoA Dehydrogenases↗
[The serotype distribution of Campylobacter jejuni strains among gastroenteritis in hospitals over 7 year period in Tokyo].
Campylobacter jejuni strains isolated from gastroenteritis at 4 general hospitals of Tokyo Metropolitan during the period from 1981 to 1987 were serotype according to the slide agglutination test (TCK system) developed by the Tokyo Metropolitan Research Laboratory of Public Health. Two thousand four hundred seventy-nine strains isolated from sporadic cases among infants and children, 1,962 (78.5%) were typed by 33 typing sera numbered TCK 1 through TCK 33 and leaving 537 strains (21.5%) untypable. Out of the typable strains, 1,643 strains reacted with only single serum, while 319 strains reacted with 2 or more antisera. The most common serogroups included TCK 21, 20, 7, 1, 4, 23, 24, 10, 30 and 12. Out of the 1,250 strains isolated from sporadic cases among adults, 974 strains (77.9%) were typed and 276 strains were untypable. The most common serogroups were similar to those of infants and children. Serogroups TCK 1, 7, 4 and 21 were consistently the common serogroups every year during the 7 year study. Isolation frequency of serogroup TCK 30 have increased remarkably since 1986, while TCK 23, 14 and 9 have decreased.
Adult↗
Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.
Isovaleric acidemia (IVA) is caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). At least five distinct variant IVD alleles are known. We isolated five overlapping IVD cDNA clones from a human placenta cDNA library. They covered the entire coding region, except the initiation codon, and 587 bp in the 3'-noncoding region plus the poly(A) tail. The structure of the initiation site was identified by the study of genomic DNA and by the sequence comparison with rat IVD. Human IVD shared 89.6, 35.8, and 31.6% identical amino acid residues with rat IVD and human short and medium chain acyl-CoA dehydrogenases, respectively. In the Northern blot analysis of normal human liver and fibroblast poly(A)+ RNA, three mRNA species of different sizes (4.6, 3.8, and 2.1 kb) hybridized to IVD cDNA. Three mRNA species with similar sizes were also detected in five IVA fibroblast lines of different genotypes (variants 1, 1 X 2, 2, 3, and 5), suggesting that these variants are each due to a point mutation or small deletion.
Amino Acid Sequence↗
Immunological features in hairless descendants derived from Mexican hairless dogs.
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Age Factors↗
Development of a new surgical procedure for repairing tracheobronchomalacia.
We have developed a new surgical method for repairing tracheobronchomalacia. In experiments on dogs we tried external fixation of Marlex mesh (Bard Cardiosurgery Division, Bellerica, Mass.) on the trachea. We first made models of tracheomalacia by making fractures or resections in intrathoracic tracheal cartilages and then made an external fixation of Marlex mesh on the malacic segments of the trachea. In 11 dogs Marlex mesh was sutured onto the trachea with absorbable thread. The trachea was firmly supported after 2 to 6 months, compared with three controls in which no external fixation was made. However, mucosal defects associated with ischemia caused by the suture developed in four of the 11. In 13 more dogs Marlex mesh was bonded to the trachea with fibrin glue. After 3 to 8 months the supporting strength of the trachea increased up to the level of the normal trachea. There was no evidence of inflammation or of mucosal defects. Therefore Marlex mesh was applied to a 44-year-old-man who had experienced frequent attacks of cough syncope. After the operation the attacks of cough syncope and collapsing of his airway disappeared completely.
Adult↗
[A case of giant cell tumor originating in the rib].
A rare case of giant cell tumor originating in the rib is reported. A 23-year-old female was admitted because of a mass in the right chest wall, right back pain and bloody pleural effusion. Exploration revealed tumor originating from the 2nd or 3rd rib and invading the intercostal muscles and the right lung. We completely resected the tumor with chest wall and performed right pneumonectomy. The defect of the chest wall was reconstructed using polyester mesh covered with a Gore-tex soft tissue patch. The pathological diagnosis was a malignant giant cell tumor of the rib. She is now doing well and has had no recurrence for 18 months since the operation.
Adult↗
[Flow cytometric analysis of cellular DNA content of lung cancer with reference to survival].
The cellular DNA content of lung cancer were measured by flow cytometry on 223 paraffin-embedded specimens prepared from resected lung carcinomas. According to the histological type of lung cancer, the mean values for the DNA Index were 1.41 in adenocarcinoma, 1.39 in squamous cell carcinoma, 1.33 in large cell carcinoma and 1.84 in small cell carcinoma. The DNA Index of small cell carcinoma was thus slightly higher than that of the other histological types, without statistically significant difference. Of 223 lung carcinoma cases, 131 (59.1%) were DNA aneuploidy and 92 (40.9%) were DNA diploidy. DNA aneuploidy was found in 56.1% of adenocarcinomas, 59.5% of squamous cell carcinomas, 53.3% of large cell carcinomas and 100% of small cell carcinomas. According to the staging of the lung cancer, the mean values of the DNA Index were 1.40 in stage I, 1.46 in stage II, 1.36 in stage IIIA, 1.48 in stage IIIB and 1.48 in stage IV. No statistically significant differences were found among these stages. DNA aneuploidy was found in 57.1% of stage I, 57.9% of stage II, 54.7% of stage IIIA, 60.0% of stage IIIB and 75.0% of stage IV. The correlation of DNA content with survival were investigated in 94 cases with stage I non-small cell carcinoma which underwent absolute curative resection. Of 94 cases, the 5-year survival rate of 40 cases with DNA diploidy was 81.1% and a mean survival time 111 months, while this one of the remaining 54 with DNA aneuploidy was 58.4% and a mean survival time 80 months.(ABSTRACT TRUNCATED AT 250 WORDS)
Aneuploidy↗
The acyl-CoA dehydrogenase family: homology and divergence of primary sequence of four acyl-CoA dehydrogenases, and consideration of their functional significance.
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Acyl-CoA Dehydrogenases↗
[Experimental and clinical results of tracheal prosthesis].
Prosthetic reconstruction of the trachea was performed experimentally in mongrel dogs. Neville's prosthesis, which we used initially, has insufficient elasticity and flexibility. As a result, migration was observed after the reconstruction. To prevent such migration, we wrapped the prosthesis in Marlex mesh. Nevertheless, dehiscence and local infection occurred at the anastomotic site. We have developed a new Katsura prosthesis which is made of silicone rubber and has good elasticity and flexibility. However, the Katsura prosthesis was also unable to prevent dehiscence and local infection at the anastomotic site in the experiment. We have thus tested successive models of the Katsura prosthesis (model I-model V). Recently, we wrapped the prosthesis of model V in pedicled omentum instead of Marlex mesh to prevent the spread of infection to the mediastinum. In clinical cases who had a large surgical defect of the trachea and difficulty of primary anastomosis, we performed prosthetic reconstruction. We used Neville's prosthesis in 7 cases and the Katsura prosthesis in 5 cases. Severe complications were observed, such as arterial erosion and migration of the prosthesis. All the cases have died, although 5 cases survived for more than 1 year, and the longest survival time was 43 months. In the future, we hope that an ideal substitute for the trachea will be found and that prosthetic reconstruction will be able to safely performed, as in the case of vascular prosthesis.
Animals↗
Purification and characterization of a fatty-acid-binding protein from the gastric mucosa of rats. Possible identity with heart fatty-acid-binding protein and its parietal cell localization.
Fatty acid-binding protein (FABP) was purified from rat gastric mucosa by successive Sephadex G-75 chromatography, DEAE-cellulose chromatography and HPLC on an RP-2 (Merck) reversed-phase column. The purified stomach FABP migrated as a single band corresponding to an apparent molecular mass of 15 kDa on SDS/PAGE. Stomach FABP appeared to be identical with rat heart FABP, as judged from its electrophoretic mobility, amino acid composition and tryptic peptide map. In addition, the amino acid sequences of two selected tryptic peptides coincided completely with the rat heart FABP sequence deduced from that of cDNA. Stomach FABP showed immunochemical identity with rat heart FABP when tested with an antiserum against rat heart FABP. Immunohistochemically, stomach FABP was specifically stained with anti-(rat heart FABP) serum in parietal cells of the gastric mucosa. The results suggested that the primary structure of stomach FABP is identical with that of rat heart FABP, and showed that stomach FABP is localized in parietal cells of the gastric mucosa.
Amino Acid Sequence↗
Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase family.
cDNAs encoding the entire coding regions of the precursors (p) of rat long chain acyl-CoA (LCAD), short chain acyl-CoA (SCAD) and isovaleryl-CoA dehydrogenase (IVD) have been cloned and sequenced. Three cDNAs for rat liver LCAD together cover a 1440-base pair region. These cDNAs encode the entire 430-amino acid sequence of pLCAD, including the 30-amino acid leader peptide and the 400-amino acid mature LCAD. A single 1773 base pair cDNA for rat SCAD covers the entire coding region (414 amino acids), including the 26-amino acid leader peptide and the 388-amino acid mature peptide. Four identified IVD cDNAs, when combined, encompass a 2104 base region, and encode 424 amino acids including a 30-amino acid leader peptide and the 394-amino acid mature peptide. The identities of all cDNA clones have been confirmed by matching the amino acid sequences predicted from the respective cDNAs to the amino-terminal and tryptic peptide sequences derived from the corresponding purified rat enzyme. Comparison of the sequences of four rat acyl-CoA dehydrogenases, including LCAD, MCAD, SCAD, and IVD, and two of their human counterparts (MCAD and SCAD) reveals a high degree of homology (57 invariant and 92 near invariant residues: 30.6-35.4% of identical residues in pairwise comparisons), suggesting that these enzymes belong to a gene family and have evolved from a common ancestral gene.
Acyl-CoA Dehydrogenase↗
[Clinical evaluation of serum CA130 in patients with lung cancer].
CA130 is a glycoprotein which is recognized by monoclonal antibodies-(130-22 and 145-9) produced by immunization with human lung adenocarcinoma cell line (PC-9). CA130 is considered to be a new tumor marker, different from CA125, since it has a separate antigenic determinant. We used the D-7111 kit (Daiichi Radioisotope Laboratories, Ltd.) to measure the serum level of CA130 in 290 patients with lung cancer, 171 patients with noncancerous lung disease (N-CLD) and 93 healthy adults. In addition, CEA, CA19-9, CA125 and sialyl SSEA-1 antigen (SLX) were also measured for the same serum samples when possible. The cutoff level for CA130 was 35 U/ml. The overall positive rates for CA130 were 32% in the lung cancer patients, 23% in the N-CLD patients and 0% in the healthy adults. The positive rate in the lung cancer patients was significantly higher than in the N-CLD patients (p less than 0.05). As a function of the histological type of lung cancer, the positive rates for CA130 were 44% in 120 patients with adenocarcinoma, 17% in 115 patients with squamous cell carcinoma, 33% in 36 patients with small cell carcinoma, 42% in 12 patients with large cell carcinoma and 29% in 7 patients with miscellaneous cell type. The positive rate in the patients with adenocarcinoma was significantly higher than in the patients with squamous cell carcinoma (p less than 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)
Antigens, Tumor-Associated, Carbohydrate↗
[Evaluation of sialyl SSEA-1 antigen in patients with lung cancer].
Stage-specific embryonic antigen-1 (SLX) is a glycolipid recognized by a monoclonal antibody (FH 6) which is produced by cells immunized with mice teratocarcinoma cell line. Using an SLX (Otsuka) kit from Ostuka Assay Laboratory, we measured the serum level of SLX in 96 patients with lung cancer, 305 patients with non-cancerous lung disease and 86 healthy adults, prospectively. When we adopted a cutoff level of 42U/ml (mean + 2S.D. in the healthy adults), the overall positive rates were 29.2% in the lung cancer patients, 15.1% in the non-cancerous patients and 0% in the healthy adults. The positive rate of the lung cancer patients was significantly higher than in the patients with non-cancerous lung disease (p less than 0.05). According to the histological type of lung cancer, the positive rates were 40.9% in 44 patients with adenocarcinoma, 18.4% in 37 patients with squamous cell carcinoma, 0% in 7 patients with small cell carcinoma, and 0% in 3 patients with large cell carcinoma. Staging of the lung cancer patients revealed positive rates for serum SLX of 5.6% in 18 stage I patients, 22.2% in 9 stage II patients, 33.3% in 21 stage IIIA patients, 33.3% in 27 stage IIIB patients, 42.9% in 21 stage IV patients. After we performed the immunostaining method for SLX using FH6, positive immunoactivity was demonstrated mainly in the cell membrane of adenocarcinoma cells. SLX seems to be a tumor-associated marker in patients with lung adenocarcinoma.
Adenocarcinoma↗
Natural infection with canine distemper virus in a Japanese monkey (Macaca fuscata).
A case of encephalitis in a Japanese monkey (Macaca fuscata) was examined histopathologically and serologically. The animal had brain lesions consisting of perivascular cuffs, malacia, inclusion bodies and giant cells. Monoclonal antibody to the nucleoprotein of canine distemper virus (CDV) stained the inclusions, and the distribution of the virus antigen was closely associated with that of the histological lesions. Serologically, all the 22 monkeys in the same group as the diseased monkey had relatively high titers of neutralizing antibody to CDV, but not to measles virus (MV). The pattern of the antibody titers to CDV and MV closely resembled that of cynomolgus monkeys experimentally inoculated with CDV, but differed from that of monkeys inoculated with MV. These findings suggest that an epidemic of CDV occurred in these Japanese monkeys, associated with one case of fatal viral encephalitis. This is believed to be the first report of a natural infection by CDV in non-human primates.
Animals↗
[Clinical trial of T-3262 on acute enteritis. Japan Research Committee of T-3262, Research Group for Acute Infectious Enteritis].
For the purpose of evaluation of clinical efficacy, safety and usefulness on acute infectious enteritis (bacillary dysentery, and enteritis caused by Salmonella spp., Campylobacter spp., enteropathogenic E. coli, and so on), T-3262, a newly developed pyridone-carboxylic acid derivative, was administered to a total of 136 patients and carriers. In addition, in vitro antibacterial activity of T-3262 was determined against the clinical isolates, and compared with those of nalidixic acid (NA), pipemidic acid (PPA), enoxacin (ENX), norfloxacin (NFLX) and ofloxacin (OFLX). The daily dose of 450 mg of T-3262 was administered orally three times after meals for 5 days, with the exception of 7 day administration against Salmonella enteritis. A total of 89 cases were evaluated; 23 with Shigella spp., 30 with Salmonella spp., 15 with Campylobacter spp., 6 with enteropathogenic E. coli, and 15 cases with the other pathogens or pathogen-negative. The efficacy on clinical symptoms judging from duration of fever, and duration of diarrhea and abnormal stool character was 100% in all the enteritis except enteropathogenic E. coli enteritis, in which it was 50% (n = 2). Concerning bacteriological response, elimination of the causative organisms from the feces was 100% in Shigella spp. (n = 19), Salmonella spp. (n = 30), and enteropathogenic E. coli (n = 6), although 64.3% in Campylobacter spp. (n = 14). As an adverse effect, epigastric discomfort was observed in one (0.8%) of 130 cases. Deteriorations in laboratory findings were seen in five (6.2%) of 81 cases, consisting of two with elevated GOT and GPT, two with elevated GPT, and one with increased eosinophils count, although they were all slight in degree. MICs of T-3262 which inhibited 90% of the isolates of Shigella spp, Salmonella spp., and Campylobacter spp., were 0.025, 0.05, and 0.78 microgram/ml, respectively. These values were lowest among the quinolone derivatives tested, except that the MIC90 against Campylobacter spp. was the same as that of ofloxacin.
4-Quinolones↗
[Comparison of clinical efficacy of lomefloxacin (LFLX, NY-198) and pipemidic acid (PPA) in the treatment of infectious enteritis by a double-blind method. The Japan Research Committee of Lomefloxacin Research Group Enteritis].
The clinical efficacy, safety and usefulness of lomefloxacin (LFLX, NY-198), a new quinolone antimicrobial agent, were compared with those of pipemidic acid (PPA) in the treatment of infectious enteritis (bacillary dysentery, enteropathogenic Escherichia coli enteritis and Campylobacter enteritis) by a double blind method. Daily dosage of LFLX and PPA was 600 mg and 2000 mg, respectively administered orally divided into 4 doses. The duration of the treatment was 5 days. Of 290 cases studied, 100 cases were excluded and 21 cases were dropped from analysis of effectiveness and usefulness. The effectiveness and usefulness was evaluated in 169 cases (LFLX group: 83, PPA group: 86). There was no significance difference between the two groups in any background characteristics. The results obtained were as follows: 1. In 73 symptomatic patients (LFLX group: 35, PPA group: 38) on the day of the beginning of administration, the clinical effect was 91.4% in the LFLX group and 84.2% in the PPA group with no significant difference between the two groups. 2. In a total of 184 strains (LFLX group: 90, PPA group: 94), the bacteriological effects of LFLX (93.3%) was superior to that of PPA (80.9%) with significant difference (p = 0.0153). 3. In 169 evaluable patients, the global clinical effects of LFLX (92.8%) was superior to that of PPA (79.1%) with a significant difference (P = 0.0144). 4. Side effects were observed in 1 (0.7%) of the 141 patients in the LFLX group and none of the 143 patients in the PPA group. Abnormal laboratory test values were noted in 10 (7.6%) of the 132 patients treated with FLLX and 7 (5.1%) of the 136 patients treated with PPA, but they as no significant difference between the two groups. 5. In 169 evaluable patients, the clinical usefulness of LFLX (91.6%) was superior to that of PPA (76.7%) with a significant difference (P = 0.0111). From these results, LFLX is considered to be a clinically useful medicine in the treatment of infectious enteritis including bacillary dysentery.
4-Quinolones↗