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Biomedical subjects

I Matsuda

Publications and source records attributed to I Matsuda.

At least 163 records · Page 9Linked to original sources
PubMed1994

[Autoimmune hemolytic anemia associated with multicentric Castleman's disease with a 28-year history].

A 49-year-old female admitted because of anemia. had skin rashes since age 20. Generalized lymphadenopathy and fever appeared and the patient was diagnosed as multicentric Castleman's disease (MCD) at 40 years of age. Lymphadenopathy and fever improved with combined chemotherapy. In November, 1992, anemia increased with reticulocytosis (11.8%) and laboratory examination revealed a positive result for Coombs test and increased indirect bilirubin. A diagnosis of autoimmune hemolytic anemia (AIHA) was made. Steroid and plasmapheresis showed temporary effects, but anemia relapsed when steroids were decreased. Immunosuppressive drugs, vincristine and danazole were ineffective. Anemia improved on the second attempt at steroid therapy. The level of Hb rose to 11.2 g/dl after 3 months. The relationship between MCD and AIHA was discussed.

Anemia, Hemolytic, Autoimmune↗
PubMed1993

Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.

Maple syrup urine disease (MSUD) is an autosomal recessive disease caused by a deficiency in subunits of the branched-chain alpha-keto-acid dehydrogenase complex (BCKDH). To characterize the mutations present in five patients with MSUD (four classic and one intermediate), three-step analyses were established: (1), identification of the involved subunit by complementation analysis using three different cell lines derived from homozygotes having E1 alpha, E1 beta or the E2 mutant gene; (2), screening for a mutation site in cDNA of the corresponding subunit by RT-PCR-SSCP and (3), mutant analysis by sequencing the amplified cDNA fragment. Four single-base missense mutations, R115W, Q146K [corrected], A209T and I282T, were detected in the E1 alpha subunit. A single-base missense mutation H156R and three frame-shift mutations to generate stop codons downstream, including an 11-bp deletion of the tandem repeat in exon 1, a single-base (T) deletion and a single-base (G) insertion, were identified in the E1 beta subunit gene. All except one (11-bp deletion in E1 beta (Nobukuni, Y., Mitsubuchi, H., Akaboshi, I., Indo, Y., Endo, F., Yoshioka, A. and Matsuda, I. (1991) J. Clin. Invest. 87, 1862-1866)) were novel mutations. The sites of amino-acid substitution were all conserved in other species. Thus, mutations causing MSUD are heterogenous.

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)↗
PubMed1993

Childhood myelodysplastic syndrome with clonal evolution progressing to acute megakaryoblastic leukemia (ANLL-M7).

We treated a 16-month-old girl with myelodysplastic syndrome (MDS; refractory anemia with excess of blasts subtype, RAEB by FAB classification) that developed into acute megakaryoblastic leukemia (ANLL-M7). The blast cells were positive for CD41 shown by flow cytometry and for platelet peroxidase by electron microscopy. Cytogenetically, five kinds of abnormal karyotypes were apparent at the initial visit and karyotypic progression (clonal evolution) was also evident. These karyotypes were considered to be derived from the putative original clone, 48,XX, +6, +21. The observed karyotypes were considered 50,XX, +4,add(4)(q31), +6,add(7)(p22),add(10)(q24),add(12)(q11), +20, +21, + mar[karyotype A];48,XX,add(4)(q31), +6,add(10)(q24),add(12)(q11), +21 [karyotype B];48,XX, +6,t(6;13)(p23;q14), +21 [karyotype C];51,XX, +X, t(6;13)(p23;q14), + der(6)t(6;13)(p23;q14), +21, +21, + mar [karyotype D]; and 49,XX, +X, -3,t(6;13)(p23;q14), +der(6)t(6;13)(p23;q14), -12, +21, +21, + mar [karyotype E]. It seems karyotypes B and C were derived from the putative clone; karyotype B developed into karyotype A; and karyotype C developed into karyotype E through karyotype D. After development of ANLL-M7, the cytogenetic study showed a karyotype with further karyotypic progression. The patient was treated with high-dose cytosine arabinoside (HD AraC) followed by allogeneic bone marrow transplantation. Despite intensive care, she died 3 months after the transplantation.

Anemia, Refractory, with Excess of Blasts↗
PubMed1993

Combination of arachidonic acid and guanosine 5'-O-(3-thiotriphosphate) induce translocation of rac p21s to membrane and activation of NADPH oxidase in a cell-free system.

The superoxide-generating NADPH oxidase system in phagocytes consists of membrane-associated cytochrome b558 and three cytosolic components named p67-phox, p47-phox, and rac p21s. In a cell-free system consisting of membrane and cytosol, the oxidase can be activated with guanosine 5'-O-(3-thiotriphosphate) (GTP gamma S) and an unsaturated fatty acid such as arachidonic acid (AA). Incubation of cytosol and membrane with AA alone caused clear translocation of p47-phox and p67-phox to the membrane, but only slight translocation of rac p21s. GTP gamma S alone did not significantly induce the translocation of rac p21s. However, GTP gamma S in combination with AA markedly augmented rac p21s translocation to the membrane. The translocation of rac p21s is not induced by GDP or GDP beta S. These results indicate that the GTP-bound active form of rac p21s is the entity that is translocated to the membrane by the action of AA.

Amino Acid Sequence↗
PubMed1993

Effect of milk on absorption of norfloxacin in healthy volunteers.

The authors studied the effect of milk on the bioavailability of norfloxacin in six healthy male volunteers in a randomized crossover trial. After an overnight fast, 200 mg of norfloxacin was given with 200 mL of water or milk. Area under the curve (AUC) of norfloxacin with milk was significantly (P < 0.01) smaller than that with water. The mean peak serum concentration was decreased to 60% after oral administration of norfloxacin with milk (P < 0.01). The apparent volume of distribution at central compartment (Vc/f) value of norfloxacin was significantly (P < 0.05) increased with milk. Milk exhibits a clinically significant effect on norfloxacin absorption.

Adult↗
PubMed1993

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Ornithine transcarbamylase deficiency (OTC), the most common inborn error of the urea cycle, shows an X-linked inheritance with frequent new mutations. Southern blots reveal only a small percent of the mutation, but amplification of cDNA or genomic DNA using the polymerase chain reaction (PCR) followed by DNA sequencing, has contributed greatly to overcoming this difficulty. Problems remaining are the limited availability of fresh liver samples for preparation of intact mRNA in the former case, and there are primer sequences for PCR for only some exons in the latter case. Here, we report the structures of intron sequences which are long enough to analyze all exons and adjacent introns of the OTC gene using PCR and PCR single-strand conformation polymorphisms (PCR-SSCP). We carried out a DNA analysis of findings in five Japanese male patients with neonatal or late onset form. Five patients had mutations in the protein coding region. C to G (S192R), A to T (D196V), A to G (T264A), T to C (M268T), and C to T (R277W) substitutions. The first four of these were novel missense mutations and the presence of the mutation was confirmed in the corresponding families.

Asian People↗
PubMed1993

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

We examined the DNA in two families with ornithine transcarbamoylase (OTC) deficiency. Two point mutations of the OTC gene, a C-to-T (codon 141) and a G-to-A (codon 141), were identified. This allowed prenatal monitoring to be made for two fetuses in each family, using polymerase chain reaction (PCR), followed by allele-specific oligonucleotide hybridization or TaqI digestion of amplified sequence. The diagnoses showed heterozygotes of a wild type gene and the corresponding mutant gene in these fetuses; each was confirmed postnatally.

Amino Acid Sequence↗
PubMed1993

Follow up study on children with dyslipidaemia detected by mass screening at 18 months of age: effect of 12 months dietary treatment.

The present study was done to evaluate the effect of short-term dietary therapy on 148 dyslipidaemic children (24 familial hypercholesterolaemia, 105 non-familial hypercholesterolaemia and 19 hypertriglyceridaemia), detected by mass screening in children at 18 months of age. In the model diet used for treatment, 15% of the total calories were obtained from protein, 27% from fat and 57% from carbohydrate. Cholesterol intake was set at < 200 mg/day and the ratio of polyunsaturated to saturated fatty acid (P/S ratio) was 1.2. When compared to the composition of the diet ingested by the dyslipidaemic children, only the P/S ratio changed from 0.7 to 1.2. During 12 months treatment, levels of total cholesterol, low density lipoproteins cholesterol and apoB decreased by 10%-15% in children with familial and non-familial hypercholesterolaemia. There was no significant change in the levels of high density lipoproteins. In 19 children with hypertriglyceridaemia, the intake of carbohydrate was limited to 55% of the total calories consumed and after 12 months of treatment, triglyceride levels reverted to normal. Throughout the study period, approximately 70% of the children on this dietary therapy were seen in our clinics every 3-6 months and physical development was within normal ranges. These results, taken together, indicate that dietary therapy can be effective for correcting dyslipidaemia, even in young children.

Analysis of Variance↗
PubMed1993

Acute myeloblastic leukemia (ANLL-M2) with t(8;21)(q22;q22) variant expressing lymphoid but not myeloid surface antigens with a high number of G-CSF receptors.

Leukemic cells from an 8-year-old girl with ANLL-M2 expressed precursor B-cell antigen CD19, but none of the myeloid antigens CD11b, CD13, CD14 and CD33. After culture, the cells expressed CD11b and CD13. The cells carried a high number of granulocyte colony-stimulating factor (G-CSF) receptors. In chromosome analysis, metaphase cells were obtained only in the case of culture with G-CSF. The karyotype was a variant of t(8;21)(q22;q22). Southern blot analysis revealed rearrangement of the AMLI gene located on chromosome 21. These observations may suggest that even without myeloid surface antigens and with precursor B-cell antigen, ANLL-M2 with t(8;21)(q22;q22) has apparent myeloid characteristics.

Antigens, Neoplasm↗
PubMed1993

Analysis of myeloid characteristics in acute lymphoblastic leukemia.

We examined myeloid characteristics of myeloid-antigen-positive (My+) and -negative (My-) B-precursor acute lymphoblastic leukemia (ALL) blast cells. Immunophenotyping before and after culture, rearrangements of immunoglobulin heavy chain (IgH) and T-cell receptor (TCR) genes, stimulation of DNA synthesis with granulocyte colony-stimulating factor (G-CSF), and G-CSF binding assay were performed. Of My+ ALL blasts, the immunophenotypic staging as B-precursor ALL and rearrangements of IgH and TCR-beta, gamma and delta genes did not differ from findings in My- ALL blasts. Stimulated with G-CSF, cells from one My+ ALL and from one My- ALL patients showed enhancement of DNA synthesis and expression of CD11b and CD13, respectively. G-CSF binding was observed in blasts from 3 My+ ALL patients and one My- ALL child. After culture, blasts from My- ALL children expressed CD13 but showed neither enhanced DNA synthesis with G-CSF nor G-CSF binding. Thus, it would appear that (i) My+ and My- adult ALL blasts are at the same stage of differentiation; (ii) some My+ adult ALL blasts have phenotypic and functional myeloid characteristics; and (iii) induction of CD13 expression in My- ALL after in vitro culture does not correlate with other myeloid characteristics.

Adolescent↗
PubMed1993

Cheiro-oral-pedal syndrome in thalamic infarction.

Sensory disturbance around the corner of the mouth, in the palm of the hand and in the foot on the same side (cheiro-oral-pedal syndrome) has been reported only in 2 patients with brainstem lesion. We report 2 cases of cheiro-oral-pedal syndrome; the causative lesion was revealed by magnetic resonance imaging to be in the ventral postero-lateral and ventral posteromedial nuclei of the thalamus.

Aged↗
PubMed1993

Mild to moderate zinc deficiency in short children: effect of zinc supplementation on linear growth velocity.

Twenty-one prepubertal, short Japanese children (11 boys) without endocrine abnormalities were identified as having mild-to-moderate zinc deficiency by zinc kinetics studies (zinc body clearance > or = 20 ml/kg per hour). Only one child had a serum zinc level < 65 micrograms/dl (cutoff level). A total of 10 children (5 boys) received 5 mg/kg per day of zinc sulfate for 6 months; 11 untreated children (6 boys) served as control subjects. During treatment, calorie intake (p < 0.01), growth velocity (p < 0.01), serum zinc, calcium, and phosphorus concentrations, alkaline phosphatase activity (p < 0.001), percentage of tubular reabsorption of phosphorus (p < 0.05), ratio of maximal tubular reabsorption rate for phosphorus to the glomerular filtration rate (p < 0.05), serum osteocalcin level (p < 0.01), and plasma insulin-like growth factor 1 (p < 0.05) were significantly increased, but urinary excretion of growth hormone was unchanged in the zinc-supplemented group. All these values were unchanged in the untreated children. We conclude that zinc supplementation is effective for inducing growth in short children with zinc deficiency, and that body zinc clearance tests facilitate detection of marginal zinc deficiency.

Administration, Oral↗
PubMed1993

Identification of a single base insertion in the COL4A5 gene in Alport syndrome.

We identified a novel mutation in the COL4A5 gene of a Japanese patient with Alport syndrome. A combination of in vitro amplification of the exons with single strand conformation polymorphisms (SSCP) analysis suggested the presence of a mutation in exon 48. Sequencing of the amplified DNA revealed a single base (T) insertion which was between nucleotides T 4750 and G 4751 within the methionine 1516. This mutation caused a shift in the reading frame of nine amino acids and introduced a premature termination signal that would be expected to lack about two-thirds of the noncollagenous (NC1) domain. This mutation may interfere with type IV collagen assembly leading to increased permeability and play a causative role in the glomerular basement membrane abnormality of this patient with typical Alport syndrome. Gene tracking by restriction enzyme NlaIII digestion revealed that the patient's mother is heterozygous whereas the patient's brother and one sister are normal, albeit they have hematuria and proteinuria. Without gene analysis, they would have been misdiagnosed. We propose that the diagnosis of Alport syndrome should be made on the basis of both clinical phenotypes and molecular defects.

Adolescent↗
PubMed1993

Zinc kinetics in patients with bone demineralization due to physical immobilization.

To examine the relationship between zinc (Zn) status and bone demineralization, a body Zn kinetics study was performed with 74 (37 male, 37 female) disabled persons ranging in age from 16 to 45 years. Three groups were classified according to degree of limited mobility: group 1 (n = 23), capable of walking; group 2 (n = 20), capable of crawling; group 3 (n = 31), bed-ridden, Serum Zn levels were similar in the three groups, whereas body Zn clearance and the distribution of Zn showed a pattern [group 1 < group 2 < group 3 (p < 0.01, p < 0.05)], with the reverse in cases of bone mineral density (BMD) [group 1 > group 2 > group 3 (p < 0.01)]. Renal handling of Zn did not different among the three groups. There was a negative correlation between Zn distribution volume and values of BMD (p < 0.005, gamma = 0.387). Thus, various organs, as well as the skeleton, are Zn deficient in immobilized patients.

Adolescent↗
PubMed1993

Irradiated fetal thymus transplantation in a patient with combined immunodeficiency with predominant T cell defect.

A 6 month old boy was diagnosed as a case of combined immunodeficiency (with predominant T cell defect by previous classification). His T cell count was decreased, his B cell count in peripheral blood was increased, his serum IgG level was decreased, his serum IgM level was normal and the thymus was not evident on CT scans and magnetic resonance imaging. Administration of the thymus hormone, thymosin, led to a partial recovery of T cell function without normalization of the T cell count. At age 26 months the patient received an irradiated thymus transplantation from a 16 week old female fetus. After the transplantation, the T cell count (mainly CD4+ cells) increased by 50-70%. A mild graft-versus-host reaction (GVHR) occurred and several immunosuppressants were prescribed. Chromosome analysis showed that the T cells have both 46 XY and 46 XX karyotypes while the B cells have the 46 XY karyotype alone. His cellular immunity (skin tests, DNA synthesis, mixed lymphocyte reaction, cytotoxic activity and natural killer cell function) and his serum IgG level remained low. However, being on regular r-globulin therapy and oral anti-fungal drugs, he is now living normally with almost no trouble at age 6 years and 3 months. This case showed that irradiated thymus transplantation might be a useful method when an adequate donor for bone marrow transplantation is not available. The unexpected observation that the increased T cells were mainly CD4 may be related to the mild GVHR and the clinical improvement.

Female↗
PubMed1993

Ophthalmoplegia, hemiparesis and cheiro-oral syndrome in basilar artery migraine.

A patient with migraine developed ophthalmoplegia, hemiparesis and cheiro-oral syndrome on the left side. T2-weighted MRI showed infarcts in the tegmentum of bilateral midbrains and right pons but no lesion in the cerebral or cerebellar hemisphere. Infarction in the tegmentum of brainstem secondary to the involvement of perforating arteries has not been reported in basilar artery migraine until now.

Adult↗