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G Isshiki

Publications and source records attributed to G Isshiki.

At least 37 records · Page 2Linked to original sources
PubMed1998

[Auditory brainstem responses (ABR) in patients with Wolfram syndrome].

Auditory brainstem responses (ABR) and other evoked potentials were studied in four patients with the Wolfram syndrome. In three cases ABR was abnormal in the early stage of the disease. There was no responses or only the wave V with prolonged latency at a stimulation level of 80 dBnHL. A prolongation of the I-V interpeak latency (IPL) was also revealed at a stimulation level of 105 dBnHL. The remaining patient showed shortening of the I-V IPL. The visual evoked potentials showed prolonged peak latency in three cases, and the median nerve short latency somatosensory evoked potentials were normal in two cases. These ABR findings indicated not only sensory neuronal hearing loss but also a degenerative change in the brain stem in the Wolfram syndrome.

Adolescent↗
PubMed1997

HLA-DRB4 genotyping by PCR-RFLP: diversity in the associations between HLA-DRB4 and DRB1 alleles.

The serologically defined HLA-DR53 antigen is associated with HLA-DR4, -DR7, and -DR9 antigens, and these haplotypes contain two functional genes, DRB1 and DRB4, and two pseudogenes, DRB7 and DRB8. The DRB4 gene encodes the DR53 antigen, and has been officially recognized to contain three allelic variants (DRB4*0101, 0102, and 0103). In this study, we have established the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for DRB4 genotyping and analyzed genetic polymorphism of the DRB4 gene in Japanese population. DRB4*0101, DRB4*0102, and DRB4*0103 could be observed at the frequencies of 0.5%, 1.1% and 32.7%, respectively. The same DRB1 allele does not necessarily share an identical DRB4 allele. Further, a tight linkage disequilibrium was found between DRB4*0102 and DRB1*0401 in Japanese population, whereas DRB1*0401 was associated with DRB4*0101 or *0103 in Caucasian population. These findings reveal extensive diversity of the HLA-DRB1 and -DRB4 haplotypes and may have important implications for HLA-disease associations and donor selection in unrelated transplantation.

Alleles↗
PubMed1996

Angiotensin converting enzyme gene polymorphism and renal artery resistance in patients with insulin dependent diabetes mellitus.

The present study was carried out to elucidate whether renal hemodynamic changes are associated with angiotensin converting enzyme (ACE) gene polymorphism in patients with insulin dependent diabetes mellitus (IDDM). We studied 32 Japanese patients with IDDM (aged 15 +/- 3 years in mean +/- SD) without renal failure or retinopathy. Renal hemodynamics were examined by duplex Doppler sonography and arterial resistance index was calculated. ACE genotypes were determined by polymerase chain reaction amplification. Resistance index (RI) of arcuate arteries in IDDM patients with DD genotype was significantly elevated, being 0.64 +/- 0.04, 0.66 +/- 0.05, and 0.71 +/- 0.05 for II, ID and DD genotype groups, respectively (II vs. DD, p < 0.02). In patients with DD genotype with normoalbuminuria (n = 27), it was also significantly elevated in DD genotype patients (II vs. DD, p < 0.02). In addition, multiple regression analysis with a forward elimination procedure showed that only the ACE genotype was associated with RI of arcuate arteries (R2 = 0.24, p < 0.01) among the parameters of sex, age, IDDM duration, body mass index, HbA1c, plasma glucose levels, serum levels of total cholesterol and creatinine, urinary albumin excretion index, mean blood pressure and ACE genotype. The present study demonstrated that renal arterial resistance is elevated in IDDM patients with DD genotype. ACE gene polymorphism which could be linked to intrarenal circulatory disturbance may be associated with the initiation and progression of diabetic nephropathy.

Adolescent↗
PubMed1996

Analysis on allelic variation of the HLA-DMB gene in Japanese by PCR-RFLP as well as direct DNA sequencing and identification of a new DMB allele, DMB*0105.

In the HLA-D region, one of the class II genes, DMA and DMB have been identified between the DQ and DP genes, and four allelic polymorphisms in each of the DMA (DMA*0101 approximately 0104) and DMB (DMB*0101 approximately 0104) genes have been so far recognized. Several recent studies suggested that the DM molecule is required for class II antigen presentation pathway especially by promoting the binding of antigenic peptides to the classical HLA class II molecule. In this study, we have analyzed genetic polymorphism and allelic variation of the DMB gene in a Japanese population by the direct DNA sequencing technique and also by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and could recognize DMB*0101 (49.3%), DMB*0102 (23.2%), DMB*0103 (23.2%), and DMB*0104 (0.4%). Further, a new DMB allele, DMB*0105 characterized by the presence of Val and Ile at two polymorphic sites, codons 144 and 179, respectively was identified. Strong linkage disequilibria were found between DMB*0101 and DRB1*0101, DPB1*0402 and DRB1*1502, and also between DMB*0103 and DRB1*1501 and DQB1*0602. HLA-DMB genotyping using the PCR-RFLP method established here will provide accurate evaluation of the effects of sequence allelism in the DMB gene on the HLA class II disease associations.

Alleles↗
PubMed1996

[Impaired glucose tolerance in the young].

The school children screened for glucosuria showed wide variety in glucose tolerance. The characteristics of slowly progressing IDDM and the juvenile onset NIDDM in these children was reviewed. Diabetes due to gene mutation will be detected in the non-obese NIDDM group.

Child↗
PubMed1995

Molecular characterization of galactosemia (type 1) mutations in Japanese.

We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians. One novel missense mutation was an G-to-A transition in exon 8, resulting in the substitution of arginine by histidine at the codon 231 (R231H). GALT activity of the R231H mutant construct was reduced to 15% of normal controls in a COS cell expression system. The other was a splicing mutation, an A-to-G transition at the 38th nucleotide in exon 3 (318A-->G), resulting in a 38-bp deletion in the GALT cDNA by activating a cryptic splice acceptor site. In seven Japanese families (14 alleles for classic form and one allele for Duarte variant) with GALT deficiency, the R231H and 318A-->G mutations were found only on both alleles of the proband. The N314D and R333W mutations were found on one allele each. The Q188R was prevalent in the United States but not in Japanese patients. The N314D mutation was associated with the Duarte variant in Japanese persons, as well as in the United States. We speculate that classic galactosemia mutations appear to differ between Japanese and Caucasian patients. Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asian and Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated after the divergence of Asian and Caucasian populations.

Amino Acid Sequence↗
PubMed1995

Antibodies to GAD in Japanese diabetic patients: a multicenter study.

We determined the prevalence of antibodies to glutamic acid decarboxylase (anti-GAD) in Japanese diabetic patients. Anti-GAD were detected by RIP Anti-GAD Hoechst, which is a new sensitive radioimmunoassay (RIA) kit using purified pig brain GAD as the antigen. One thousand nine hundred Japanese patients were collected by the Study Group for Antibodies to GAD. The prevalence of anti-GAD in the subjects of this study was: 35.4% (326/921) in all patients with IDDM, 50.3% (96/191) in patients with IDDM less than 1-year duration, 4.3% (29/680) in NIDDM, 37.9% (39/103) in slowly progressive IDDM, 10.5% (4/38) in gestational diabetes mellitus, 0% (0/27) in impaired glucose tolerance, 4.8% (6/124) in the school children with glycosuria, 2.1% (1/47) in the relatives of IDDM and 5.0% (1/20) in neurological diseases without diabetes. The prevalence in normal subjects was 2.2% (7/323). Anti-GAD are frequently detected by the RIA kit in patients with IDDM of short duration and this assay may be useful for population screening for IDDM and for better understanding of its pathogenesis.

Adolescent↗
PubMed1995

Glycemic control, growth and complications in children with insulin-dependent diabetes mellitus--a study of children enrolled in a Summer camp program for diabetics in Kinki district, Japan.

The influence of glycemic control on growth and on the development of complications in diabetic children was studied. The subjects of the study were 107 children with insulin-dependent diabetes mellitus (IDDM), who were enrolled in a Summer camp program for diabetic children in Kinki District, Japan from 1972 to 1990, and who had at least three determinations of HbA1 during the observation period. Many of the children had high mean levels of HbA1, regardless of age. The height and weight were below the standards for the respective ages in many children, indicating the retardation of growth. However, S.D. scores for height and weight and other physical indices were not related to the mean levels of HbA1. By contrast, the prevalence of diabetic retinopathy was related to an elevated mean level of HbA1, but that of albuminuria was not. Serum cholesterol levels were higher in children with higher mean levels of HbA1, but serum triglycerides appeared not to be related to glycemic control. The incidence of retinopathy during the observation period closely related to the degree of the mean levels of HbA1, but that of albuminuria did not.

Adolescent↗
PubMed1995

Cloned primed lymphocyte test cells recognize the fourth, fifth, and sixth hypervariable regions at amino acid positions 65-87 of the DPB1 molecule.

Genetic polymorphisms of the HLA-DPB1 gene in Japanese and Caucasian panel cells defined by PLT were analyzed by the PCR-based genotyping technique PCR-RFLP, and suballeles of DPw3 (DPB1*03) and DP"Cp63" (DPB1*09) could be detected. PLT-defined DPw3 cells were typed by PCR-RFLP as either DPB1*0301 or DPB1*1401. On the other hand, PLT-defined DPCp63-typed cells were typed as DPB1*0901 or DPB1*1001. These results indicate that both DPw3 and DPCp63 are split into two subantigens. DPw2 and DPw4 are DPB1*0201 and 0202 and DPB1*0401 and 0402, respectively. Comparative analysis of the amino acid sequences of the DPw2-, DPw4-, DPw3-, and DPCp63-associated alleles revealed that the fourth (C), fifth (D), and sixth (E) hypervariable regions at amino acid positions 65-87 were shared within the same PLT-defined DP antigen groups, suggesting that these three hypervariable regions are recognized by cloned T cells in PLT, thus determining DP antigen specificity. On the basis of this model, 44 DPB1 alleles can be classified into 18 antigen groups, each of which may possibly represent a PLT-defined single DP specificity.

Amino Acid Sequence↗
PubMed1995

Impaired retinal artery blood flow in IDDM patients before clinical manifestations of diabetic retinopathy.

OBJECTIVE: To determine whether hemodynamic changes in retinal arteries precede clinical manifestations of diabetic retinopathy and to examine the effects of control of hyperglycemia on retinal artery blood flow. RESEARCH DESIGN AND METHODS: We assessed blood flow in bilateral central retinal arteries in 50 insulin-dependent diabetes mellitus (IDDM) patients without retinopathy and 20 sex- and age-matched control subjects using duplex Doppler sonography. We determined the peak systolic velocity (PSV), end-diastolic velocity (EDV), time-averaged velocity (TAV), resistance index (RI), and pulsatility index (PI). RESULTS: PSV, EDV, and TAV were significantly lower in IDDM patients than in control subjects (P < 0.05, P < 0.01, and P < 0.01, respectively). The RI was significantly higher in IDDM patients than in control subjects (P < 0.01) and was significantly correlated with plasma levels of glucose in IDDM patients (r = 0.0.310, P = 0.0248). Multiple regression analysis identified the plasma levels of glucose as a significant determination of RI in IDDM patients. After 14 days of intensive insulin therapy in 7 IDDM patients, the RI and plasma levels of glucose showed significant decreases (P = 0.018, P = 0.001, respectively). CONCLUSIONS: Our results showed that changes in retinal hemodynamics were present before the clinical detection of overt diabetic retinopathy and suggest that the presence of short-term hyperglycemia partly contributes to impaired retinal circulation.

Adolescent↗