Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi.
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Amino Acid Metabolism, Inborn Errors↗
Biomedical subjects
K Hayasaka
Publications and source records attributed to K Hayasaka.
Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA.
Nucleotide sequences of the major noncoding region of human mitochondrial DNA (mtDNA) from 95 human placentas have been determined. These sequences include at least a 482-bp-long region encompassing most of the D-loop-forming region. Comparisons of these sequences with those previously determined have revealed remarkable features of nucleotide substitutions and insertion/deletion events. The nucleotide diversity among the sequences is estimated as 1.45%, which is three- to fourfold higher than the corresponding value estimated from restriction-enzyme analysis of whole mtDNA genome. A hypervariable region has also been defined. In this 14-bp region, 17 different sequences were detected. More than 97% of the base changes are transitions. A significantly nonrandom distribution of nucleotide substitutions and sequence length variations were also noted. The phylogenetic analysis indicates that diversity among the negroids is much larger than that among the caucasoids or the mongoloids. In fact, part of the negroids first diverged from other humans in the phylogenetic tree. A striking finding in the phylogenetic analysis is that the mongoloids can be separated into two distinct groups. Divergence of part of the mongoloids follows the earliest divergence of part of the negroids. The remainder of the mongoloids subsequently diverged together with the caucasoids. This observation confirmed our earlier study, which clearly demonstrated, by the restriction-enzyme analysis, existence of two distinct groups in the Japanese.
Base Sequence↗
Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.
The structural organization of the X-linked gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex has been determined by restriction endonuclease mapping and DNA sequence analysis of overlapping genomic clones. The gene is approximately 17 kilobase pairs long. It contains 11 exons ranging from 61 to 174 base pairs and introns ranging from 600 base pairs to 5.7 kilobase pairs. All the splice donor and acceptor sites conform to the GT/AG rule. The transcription initiation site was determined by S1 nuclease mapping. The DNA sequence around this site is very GC-rich. A "TATA box"-like sequence and a "CAAT box"-like sequence are present 24 and 113 bases upstream from the cap site, respectively. Also upstream from the cap site are several sets of inverted repeats, direct repeats, several sequences resembling the transcription factor Sp1 binding site, a glucocorticoid-responsive element, and two cAMP receptor binding sites.
Amino Acid Sequence↗
[Analysis of therapeutic efficacy of combined radio-chemotherapy, pre-radio-therapy in 61 cases of non-Hodgkin's lymphoma].
Treatment results were retrospectively analyzed in 61 cases of non-Hodgkin's lymphoma (stage I: 21 cases, stage II: 40 cases) that were diagnosed between July, 1977 and Oct., 1987. The actuarial five-year survival rates for stages I and II were 84.4% and 50.7% respectively, whereas those were 47.5% and 75.3% respectively for those treated by radiotherapy (XRT) alone and combined radio-chemotherapy including all cases of stage I and II. Also the results of combined radio-chemotherapy were significantly better than those of XRT alone. Particularly, the pre-radio-chemotherapy group had a 5-year survival rate of 85.7%. In conclusion, the results of combined radio-chemotherapy, particularly pre-radio-chemotherapy, was significant between those of XRT alone.
Adolescent↗
Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome).
Tissues and cultured fibroblasts from two patients with Leigh syndrome (subacute necrotizing encephalopathy) were examined. A systemic defect in cytochrome oxidase was identified by enzyme assay and estimation of cytochrome concentrations. Immunochemical analysis showed a reduction of most subunits of the cytochrome oxidase complex. The rate of synthesis of cytochrome oxidase subunits, determined by labelling experiments in cultured fibroblasts, was the same in the patients and normal controls. The reduced cytochrome oxidase content of the patients' tissues must therefore result from abnormal turnover of the protein subunits.
Animals↗
A survey on prenatal diagnosis of inherited metabolic diseases in Japan.
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Amino Acid Metabolism, Inborn Errors↗
Current status of melanoma treatment with interferon, cytokines and other biologic response modifiers in Japan.
This paper introduces the current status of melanoma treatment with various biologic response modifiers (BRMs) in Japan, with an emphasis on the clinical results of Interferon therapies. The authors also refer briefly to the current situation of interleukin-2 (IL-2) and tumor necrosis factor (TNF) in Japan. Many BRMs have been used in treatment of melanoma, e.g., IFN, IL-2, TNFs, BCG, MY-1 (DNA extracted from BCG), WPG (CWs of Bifidobacterium infantis, ATCC 15697), OK-432 (Picibanil, Streptococcus pyogenes preparation), bestatin, and forphenicinol. Some of these have completed clinical trials, while others are still undergoing clinical testing. Among IFN-alpha, beta, and gamma, intralesional administration of natural IFN-beta was found to be more effective than IFN-alpha for metastatic skin melanoma, the survival time of patients being prolonged by the administration of IFN-beta. IFN-gamma appeared to have lower efficacy than IFN-alpha and beta. The frequency of BRM application to melanoma treatment will increase. The authors foresee that combinations with radio- and/or other chemotherapy will be more common than the single use of a BRM, especially in the case of IFN.
Biological Factors↗
Cisplatin combination chemotherapy in squamous cell carcinoma and adenoid cystic carcinoma of the skin.
Seven patients with skin cancers, six with squamous cell carcinoma (SCC) and one with adenoid cystic carcinoma, were treated with cisplatin in combination with vindesine or adriamycin. Partial response was observed in three patients with squamous cell carcinomas: two cases with metastatic lung lesions and one with a primary skin lesion and lymph node metastasis. Two of the responding SCC had been resistant to previous chemotherapy, including peplomycin and mitomycin C. Multiple metastatic lesions of adenoid cystic carcinoma of the skin completely regressed after two courses of the combination chemotherapy with cisplatin and adriamycin. This report showed that cisplatin combination chemotherapy may be useful for the treatment of cutaneous squamous cell carcinoma, which is resistant to peplomycin, and adenoid cystic carcinoma of the skin.
Adult↗
A unique verrucous anogenital tumor associated with type 6b-related human papillomavirus.
Multiple dark brown papillomatous tumors, showing some histological features of verrucous carcinoma or giant condyloma, developed mainly in the anogenital region of a Japanese woman. The tumors first appeared when she was 51 years old and annoyed her for over 20 years with several recurrences without any frank malignant transformation, after surgery. Immunohistochemically, papillomavirus genus-specific antigen was demonstrated only in small foci of the lesions resected at first operation. Southern blot analysis revealed human papillomavirus type 6b-related DNA in a surgically resected specimen. The possible role of the human papillomavirus in the genesis of this unique tumor is discussed.
Aged↗
Nonketotic hyperglycinemia: studies in an atypical variant.
We diagnosed a 22-year-old man with psychomotor retardation, rare seizures, hyperglycinemia, and hyperglycinuria as an atypical variant of nonketotic hyperglycinemia (NKH). Despite this clinical phenotype and a CSF/plasma ratio confirming a mild variant, measurement of hepatic glycine cleavage activity and the P-protein component indicated the more severe neonatal variant.
Adult↗
[Effective evaluation of combination chemotherapy in stage I-II of non-Hodgkin's lymphoma--a comparison of treatment with multivariate analysis].
Sixty-one patients with non-Hodgkin's lymphoma (Stage I and II) were treated solely with radiotherapy or in combination with chemotherapy. A multivariate analysis was used to identify the prognostic factors that significantly affected the treatment outcome. The variables examined included: stage of disease, according to the Ann Arbor classification, sex, age, pathological criteria, according to the LSG, the presence or absence of systemic symptoms, the sites of disease involvement, the LDH, the bulk of the disease, and the combination chemotherapy. Variables achieving a p-value in the 0 to 0.10 range with a multivariate analysis for the overall survival were the stage of disease, the sites of the disease involvement, the bulk of the disease, and the combination chemotherapy. Finally, the overall survival was affected by bulk of the disease (p less than 0.01) and the combination chemotherapy (p less than 0.01). The 5-year survival rates were 84.4% for stage I and 50.7% for stage II. The survival rates were 47.5% for radiotherapy treatment alone and 75.3% for combination chemotherapy. It thus was concluded that combination chemotherapy was effective for treatment of stages I and II of non-Hodgkin's lymphoma.
Adolescent↗
[Radioimmunoimaging of malignant melanoma with In-111-labeled monoclonal antibodies 96.5 and ZME 018].
This paper includes the results of imaging and kinetic studies on two kinds of In-111-labeled monoclonal antibodies (MoAbs), 96.5 and ZME 018, which are known to have capability of recognizing different surface antigens present in malignant melanoma cells. These MoAbs were supplied by Hybritech Inc. through Teijin Ltd. The former MoAb (96.5) was used on 11 cases of malignant melanoma and one case of basal cell carcinoma, and the latter MoAb (ZME 018) was used on 6 cases of malignant melanoma and one case of basal cell carcinoma. As for the malignant melanoma, the results obtained from both patients groups were compared to each other. Twenty-four out of 31 lesions in the former group and 9 (including 2 occult lesions) out of 10 lesions in the latter group were visualized. However, these positive ratios can not be compared to each other because of the very small number of the lesions in the latter group. One basal cell carcinoma each from both groups were faintly visualized. Distribution patterns of these In-111-labeled MoAbs were similar to each other. Except for the first two cases in the former group, labeling efficiencies were 94.3 +/- 0.7% with 96.5 and 92.0 +/- 0.6% with ZME 018. Urinary excretions on the 1st day were 8.3 +/- 0.9% with the former and 9.3 +/- 0.3% with the latter. However, there was no statistical difference. Following the 1st day, these values changed at the level of several per cent from the 2nd to 4th day, showing a subtle and gradual rise and slightly lower values for In-111-ZME 018. But, again, there were no statistical differences. Whole body retention curves in both groups were similar to each other, and blood clearance curves were also found similar in both groups. HAMA titers were checked in all patients and were found elevated after the administration in most of the cases. Although the number of patients tested in this series is small, especially with In-111-ZME 018, both MoAbs labeled with In-111 seem to be equally capable of visualizing malignant melanoma. Possibility of the treatment of malignant melanoma with this kind of technique was also discussed.
Adult↗
Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK Sendai and PK Shinshu.
Two new erythrocyte pyruvate kinase (PK) variants with severe nonspherocytic hemolytic anemia are presented. These cases are both considered to be homozygous because of the consanguineous marriages in their parents. Their erythrocyte PK's were characterized by the recommended methods of the International Committee for Standardization in Haematology (ICSH). These two variants have been named PK Sendai and PK Shinshu. PK Sendai showed a high K0.5S (phosphoenolpyruvate), was remarkably inhibited by ATP, and was thermolabile, while PK Shinshu demonstrated remarkably low enzyme activity and required a high level of fructose 1,6-diphosphate for activation.
Adolescent↗
Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid.
Serum amino acid pattern, blood ammonia, and serum valproic acid (VPA) levels were estimated in 75 epileptic children with and without VPA therapy. The incidence of patients with hyperammonaemia (greater than 60 mumol/l) in patients treated with only VPA or with a combination of VPA and other antiepileptic drugs was 19% and 20% respectively. Hyperammonaemia was not observed in patients receiving other drugs. Elevated levels of serum glycine, alanine and serine were more common in epileptic patients treated with VPA alone and with VPA in combination with other drugs than in patients receiving other drugs. A significant positive correlation was found between the serum levels of glycine and alanine, of glycine and serine, and of serine and alanine. These findings may indicate a mitochondrial dysfunction caused by VPA.
Adolescent↗
Phylogenetic relationships among Japanese, rhesus, Formosan, and crab-eating monkeys, inferred from restriction-enzyme analysis of mitochondrial DNAs.
Mitochondrial DNA (mtDNA) polymorphisms in four species of macaques, i.e., Japanese monkey (Macaca fuscata), rhesus monkey (M. mulatta), Formosan monkey (M. cyclopis), and crab-eating monkey (M. fascicularis), were analyzed to study phylogenetic relationships. When 17 restriction enzymes of 6-bp recognition were used, 42-49 sites were observed in the samples. The estimated number of nucleotide substitutions per site among Japanese, rhesus, and Formosan monkeys ranges from 0.0318 to 0.0396, and that between the crab-eating monkey and the other monkeys from 0.0577 to 0.0653. These findings suggest that the crab-eating monkey diverged from the other three approximately 1.5-3.0 Myr before the present (Mybp) and that the Japanese, rhesus, and Formosan monkeys diverged approximately 0.9-1.8 Mybp, although the branching order cannot be determined conclusively.
Animals↗
Molecular phylogeny and evolution of primate mitochondrial DNA.
We determined nucleotide sequences of homologous 0.9-kb fragments of mitochondrial DNAs (mtDNAs) derived from four species of old-world monkeys, one species of new-world monkeys, and two species of prosimians. With these nucleotide sequences and homologous sequences for five species of hominoids, we constructed a phylogenetic tree for the four groups of primates. The phylogeny obtained is generally consistent with evolutionary trees constructed in previous studies. Our results also suggest that the rate of nucleotide substitution for mtDNAs in hominines (human, chimpanzee, and gorilla) may have slowed down compared with that for old-world monkeys. This evolutionary feature of mitochondrial genes is similar to one found in nuclear genes.
Amino Acid Sequence↗
[A case of splenic hemangioma showing a "hot spot" on radiocolloid scintigraphy].
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Aged↗
[Electron-microscopic observations on pinealocytes in various regions of the pineal gland of young and adult mice].
Qualitative and quantitative electron-microscopic observations were made on pinealocytes in various regions of the superficial pineal gland of young (40 days old) and adult (100 days old) male dd-mice, which were kept under LD 12:12 and killed at various time points over a 24-h period. In young and adult mice, nuclear and cytoplasmic volumes of pinealocytes in the distal and middle regions were larger than those in the proximal region. Nuclear volumes in the distal region and nuclear and cytoplasmic volumes in the proximal region were similar between young and adult animals, whereas cytoplasmic volumes in the distal region and nuclear and cytoplasmic volumes in the middle region were larger in adults than in young animals. In the distal and middle regions, nuclear volumes in young animals and nuclear and cytoplasmic volumes in adults exhibited similar 24-h variations, but there was no significant 24-h rhythm in cytoplasmic volumes in young animals. Nuclear and cytoplasmic volumes in the proximal region were almost constant over a 24-h period in young and adult animals. In adults, nuclear and cytoplasmic volumes at various time points over a 24-h period were similar between central and peripheral areas of the middle region. Thus, regional differences in a proximodistal direction may exist in pinealocytes of young and adult mice, and that larger pinealocytes in the distal and middle regions may be well differentiated, but smaller cells in the proximal region may remain undifferentiated, in adult animals. Chromatin was usually dispersed in pinealocyte nuclei during the light period, whereas it was often condensed during the dark period. Such a rhythm in chromatin occurred in pinealocytes seen everywhere throughout the gland of young and adult mice. Thus, the rhythms in nuclear and cytoplasmic volumes and chromatin may be controlled by different mechanisms.
Aging↗