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Biomedical subjects

I Kondo

Publications and source records attributed to I Kondo.

At least 163 records · Page 9Linked to original sources
PubMed1991

Weaver syndrome in two Japanese children.

We report on 2 Japanese patients (a 3-year-old girl and an 20-month-old boy) with the Weaver syndrome. The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal. The nosology of the Weaver and Simpson-Golabi-Behmel syndromes is discussed.

Abnormalities, Multiple↗
PubMed1991

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)

We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The fingerpads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.

Abnormalities, Multiple↗
PubMed1991

Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs.

The parental origin and mechanism of formation of polysomy X were studied in five cases (one case of 49,XXXXX; four cases of 49,XXXXY), using various X-linked restriction fragment length polymorphisms as genetic markers. Segregation and densitometric analyses on the polymorphic DNA fragments revealed that, in all five cases, the additional X chromosomes are of maternal origin and the mechanism of formation is most probably a result of three non-disjunctions during maternal meiotic divisions: once at the first meiosis and simultaneously twice at the second meiosis. The identical origin and the identical mechanism of formation among the five cases are unlikely to be coincidental and suggest a common cause in the mothers of the five cases.

Abnormalities, Multiple↗
PubMed1991

Laser microdissection and single unique primer PCR allow generation of regional chromosome DNA clones from a single human chromosome.

We have developed an argon laser chromosome microdissection technique in conjunction with a polymerase chain reaction (PCR) approach to directly amplify microdissected chromosomes. The single 22-mer primer used in PCR, although unique in sequence (5'-TAGATCTGA-TATCTGAATTCCC-3'), randomly primed and amplified any target DNA. These methods were applied to the distal half of the short arm of human chromosome 4 containing the Huntington disease (HD) locus. Forty-four percent of representative clones from this library identify single-copy DNA sequences. This calculation suggests that the resulting chromosome-specific DNA library contains approximately 600 nonoverlapping sequences with an average size 350 bp at an average spacing of 30 kbp along chromosome 4. This microdissection and PCR cloning procedure is a simple and general approach for constructing a chromosome region-specific DNA library from a single metaphase spread.

Base Sequence↗
PubMed1991

Identification of a novel CYP2D6 allele associated with poor metabolism of sparteine in a Japanese population.

The relationship between genotypes associated with restriction fragment length polymorphisms at the P450 CYP2D locus and the metabolic phenotypes for sparteine in healthy Japanese subjects was investigated. Four distinct restriction fragments of 44 kb, 29 kb, 11.5 kb or 16 + 9 kb after digestion with Xba I were observed. The genotype of Xba I 11.5 kb, which is predictive of the poor metabolizer phenotype in Caucasians is also associated with Japanese poor metabolizers. Most Xba I 44 kb are associated with the extensive metabolizer phenotype. However, one Xba I 44 kb haplotype in linkage disequilibrium with a Bam HI restriction fragment length polymorphism allele, designated Bam HI 2.3 kb-, appears to be a novel mutant CYP2D6 allele in Japanese subjects having the poor metabolizer phenotype.

Adolescent↗
PubMed1991

[Analysis of stress-strain curves in the rat molar periodontal ligament following administration of beta-aminopropionitrile (BAPN)].

To understand the function of the periodontal ligament as a tooth support, stress-strain curves obtained from the transverse section of the mesial root of the rat mandibular first molar were analyzed following administration of BAPN, known as an inhibitor of collagen cross-linking. An experimental group of rats took drinking water containing 0.2% of BAPN ad libitum for 20 days. Radiographs of the transverse section of the molar root were processed by an image analyzer. Mechanical testing was performed by pushing the tooth out of the surrounding alveolar bone at a loading speed of 7 mm/min in an extrusive direction. Doses of BAPN ranged from 19 to 29 mg/100 g bw/day during the experimental period. By the analysis of stress-strain curves, it was found that the maximum shear stress, the elastic stiffness and the failure strain energy density decreased respectively to 42, 43 and 43 percent of the control values following administration of BAPN. However BAPN did not cause a significant change in the maximum strain. It is supposed that the changes in the mechanical properties of the ligament were caused by the inhibition of cross-linking of periodontal collagen fibers.

Administration, Oral↗
PubMed1991

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.

Adolescent↗
PubMed1991

[Clinical and pathological studies on incidental renal cell carcinoma].

During the five-year period from 1985 to 1989, a total of 69 patients with renal cell carcinoma received treatment at Daisan Hospital of Jikei University School of Medicine. Among these patients, there were 23 patients (33.3%) with incidental renal cell carcinoma. These 23 cases were studied clinically and pathologically in comparison with 46 symptomatic cases. The tumor was detected by ultrasonography (US) or computed tomography (CT) conducted for the diagnosis of other diseases in 16 cases and by US included in the battery of physical examinations in the remaining 7 cases. As compared to symptomatic cases, less hematological abnormalities were found in these cases, since ESR was accelerated in only 2 cases and anemia and elevation in alpha 2-globulin level were found in none of the cases. As for diagnostic imaging, CT could detect the tumor in all of 23 cases and US in 20 out of 21 cases. Intravenous pyelography gave normal pyelograms in 4 cases. Normovascular findings were obtained by renal angiography in 2 cases. The mean largest diameter of tumors of these 23 cases was 3.9 cm, being smaller than the corresponding mean diameter of 7.7 cm for symptomatic cases. In 8 out of 23 cases tumors were small renal cell carcinoma of 2.5 cm or less in diameter. Pathologically, incidental renal cell carcinoma was characterized by small size, expansive growth pattern (INF alpha in 18 cases and INF beta in 5 cases) and prevalence of clear cell subtype (clear cell subtype in 18 cases, granular cell subtype in 2 cases and mixed cell subtype in 3 cases).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

[Phase II study of 5'-DFUR (Furtulon) capsule for bladder cancer].

A cooperative phase II study of 5'-DFUR at a daily dose of 800 to 1,200 mg was performed on 18 patients with bladder cancer. The therapeutic responses were evaluated by Koyama-Saito's criteria in 13 out of 18 patients, and 3 PR, 1 MR, 6 NC and 3 PD were obtained. Adverse reactions were observed in three out of 15 cases (20.0%). These side effects were reversible gastrointestinal symptoms such as nausea-vomiting, anorexia and diarrhea. The results suggest that 5'-DFUR is a useful drug for bladder cancer treatment.

Adenocarcinoma↗
PubMed1991

[Adjuvant chemotherapy with vinblastine, adriamycin and UFT (VAU) for renal cell carcinoma].

We tried adjuvant chemotherapy with vinblastine, adriamycin, and UFT on thirty-one renal cell carcinoma patients in stage I, II or III to determine whether or not it might improve their survival rate. The patients were started on adjuvant chemotherapy with vinblastine 5 mg/m2 i.v. and adriamycin 30/m2 i.v. 7 to 14 days after surgery, and drugs were administered every 4 weeks for a total of 5 times. UFT was administered orally in a dose of 3 capsules (300 mg as tegafur) daily for 2 to 3 years. The postoperative period averaged 4 years and 2 months with a range of 2 years and 6 months to 7 years and 1 month. The 1-year survival rate for the 31 patients was 100%, and 3- and 5-year survival rates were 96%. These results were encouraging, compared to the 1-, 3-, and 5-year survival rates of 81%, 72% and 60% achieved in a series of 60 renal cell carcinoma patients in stage I, II or III without adjuvant chemotherapy. Side effects such as alopecia, gastrointestinal symptoms, and myelosuppression were observed, but all symptoms were so mild or transient that the treatment could be continued in the patients.

Aged↗
PubMed1990

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

A new familial cases of the Cohen syndrome in two brothers of one-half second-cousin parents is reported. Typical clinical manifestations of the syndrome; i.e., mental deficiency, hypotonia, characteristic facial appearance, long, narrow hands and feet with elongated fingers, and mottled retinae were present in both patients. Both patients also had leukopenia. Clinical manifestations of the Cohen syndrome in patients are highly variable, and mottled retina has been observed in 22 of 87 patients (25%). However, an association of mottled retina in patients with the Cohen syndrome is likely to be related to the families and ethnic groups. Among 19 familial cases, mottled retina was observed in all affected sibs from five families, but in 13 families none of the affected sibs had the mottled retina. All Finnish patients had the mottled retina, but this was noted in only one of 39 Jewish patients. Based on these data, we hypothesize that two alleles at the gene locus for the Cohen syndrome exhibit different clinical manifestations: one is a Finnish type with mottled retina, and the other is a Jewish type without retinal anomalies.

Abnormalities, Multiple↗
PubMed1990

Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families.

This is the first full report on the genetic linkage between Japanese Huntington's disease and the DNA markers D4S10 and D4S43/S127. With use of the HindIII, BglI, and EcoRI polymorphisms detected at D4S10, and the combination of all these polymorphisms to give composite haplotypes, nine Japanese Huntington's disease families were found to be informative. Three recombinants for D4S10 were detected in these families, giving a maximum lod score of 1.662 at a theta of 0.10. Similarly, when we used the MspI and PvuII polymorphisms detected by D4S43/S127, five families gave informative results. No recombinant was detected in these families, giving a maximum lod score of 3.348 at a theta of 0.00. These results clearly support the view that the Japanese Huntington's disease gene may be identical with the Western gene, in spite of the lower prevalence rate in Japan.

Adolescent↗
PubMed1990

A Japanese male infant with the Weaver syndrome.

A 15-month-old male infant who had pre- and postnatal overgrowth, accelerated bone maturation and characteristic facial appearance was described. Although a Japanese female with Weaver syndrome previously reported had slightly different clinical manifestations from others, our patient had typical clinical features of Weaver syndrome. We suggest that a genetic mutation of the syndrome may be the same in Japanese as other ethnic groups and that Weaver syndrome may be an autosomal dominant disorder with variable expressions.

Bone Diseases, Developmental↗
PubMed1990

The susceptibility of Campylobacter pylori to antiulcer agents and antibiotics.

The antibacterial activities of antiulcer agents and antibiotics against Campylobacter pylori were studied. The MIC90 values of three kinds of antibiotics--macrolides, beta-lactams, and metronidazole--were 0.05-0.78, 0.39-1.56, and 12.5 micrograms/ml, respectively. They were more active than antiulcer agents such as H2-blockers and cetraxate with MIC90 values of greater than or equal to 1,600 and greater than 1,600 micrograms/ml, respectively. Especially, clarithromycin, a new derivative of erythromycin, showed an MIC90 of 0.05 microgram/ml. However, the other antiulcer agents such as sofalcone and tripotassium dicitrate bismuthate (TDB) also had MIC90 values of 50 and 6.25 micrograms/ml, respectively. Clarithromycin, sofalcone, and TDB showed bactericidal activity against C. pylori CLO2. The bactericidal actions of these drugs could be observed under electron microscopy.

Anti-Bacterial Agents↗
PubMed1990

Inherited quantitative DNA variation in the LPA ("apolipoprotein (a)") gene.

The Lp(a) antigen resides in a polypeptide chain that is attached to apolipoprotein B (apoB) by a disulfide bridge. Recently, cDNA for this polypeptide chain (frequently referred to as the Lp(a) polypeptide chain, Lp(a) apolipoprotein or apolipoprotein (a] was cloned and extensive homology to plasminogen was uncovered. This homology creates significant difficulties in studying DNA variation in the gene (the LPA gene) for this polypeptide and the plasminogen gene. We have studied a variant 2 kilobase (kb) DNA fragment detectable after digestion with the restriction enzyme MspI, which appears to originate from the LPA gene since it is detected by LPA probes but not with plasminogen probes. It is related to the "kringle IV" region of the LPA gene since it is detected with an LPA probe that only contains "kringle IV" repeats. A proportion of people appears to lack (or have an undetectable level of) the 2 kb fragment and there are significant quantitative differences between samples from people who have the fragment. Presence and amount of this fragment appear to segregate in families as a Mendelian trait. This quantitative DNA variation is likely to reflect differences between individuals in number of "kringle IV" repeats at the LPA locus.

Adult↗
PubMed1990

Restriction site polymorphism at the LPA (Lp(a) apolipoprotein; apolipoprotein (a)) locus.

A restriction site polymorphism in the Lp(a) apolipoprotein gene (the LPA gene) is reported. The basis for the polymorphism is presence or absence of an MspI restriction site that appears to be 3' to the last kringle IV structure of the gene. The "1" gene (presence of the restriction site) has a frequency of 0.316 and the "2" gene (absence of the restriction site) has a frequency of 0.684. Both members of each of 67 monozygotic (MZ) twin pairs had the same genotype and there was Mendelian segregation of the DNA variants in 40 families with a total of 75 children. There was a lower proportion of people with genotype 1-1 in the top quartile than in the 3 bottom quartiles of the population distribution of Lp(a) lipoprotein levels but the difference did not reach statistical significance.

Apolipoproteins↗
PubMed1990

Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus.

Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 was not detected in the patients. In addition, a linkage of the syndrome to D15S9 and D15S10 loci was not observed in the family. These data suggest that a gene for the Cohen syndrome is excluded from the 15q11-q12 region, on which a gene for the Prader-Willi syndrome is assigned, and that the Cohen syndrome is distinctly different from the Prader-Willi syndrome, although clinical manifestations of the Cohen and the Prader-Willi syndromes are very similar.

Child↗