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Y Matsubara

Publications and source records attributed to Y Matsubara.

At least 37 records · Page 2Linked to original sources
PubMed2001

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

Alexander disease is a rare, progressive, leukoencephalopathy whose hallmark is the widespread accumulation of Rosenthal fibers. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death before adulthood. Definitive diagnosis of Alexander disease has required biopsy or autopsy to demonstrate the presence of Rosenthal fibers. However, missense mutations in the coding region of the glial fibrillary acidic protein (GFAP) gene have recently been associated with a high percentage of pathologically proven cases. Here we report that a 10-year-old Japanese patient who showed clinical signs of Alexander disease is heterozygous for a C to T transition in which predicts a novel A244V amino acid substitution in the conserved 2A alpha-helix domain of GFAP. The nucleotide change was not found in 65 normal individuals (130 alleles). These results provide further support for a causative role for GFAP mutations in Alexander disease, and suggest DNA sequencing as an alternative diagnostic to biopsy.

Alanine↗
PubMed2001

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Holocarboxylase synthetase (HLCS) is an enzyme that catalyzes the incorporation of biotin into apo-carboxylases, and its deficiency causes biotin-responsive multiple carboxylase deficiency. The reported sequences of cDNA for human HLCS from liver, lymphocyte, and KG-1 myeloid cell lines differ at their 5' regions. To elucidate variations of the human HLCS mRNA and longer 5' cDNA ends, we performed screening of the human liver cDNA library and rapid amplification of the cDNA ends (RACE). Our results suggest the existence of three types of HLCS mRNA that start at different exons. The first type starts at exon 1, and the second type starts at exon 3, and both are found in various human tissues. The third type, corresponding to the cDNA from the KG-1 cell, starts at exon 2 of the HLCS gene. Various splicing patterns from exons 3-6 were also observed. None of the variations of cDNA found created a new initiation codon. Mutation screening from exons 6-14, therefore, was sufficient to detect amino acid changes in HLCS in patients. Our direct sequencing strategy for screening mutations in the HLCS gene revealed mutations in five Japanese patients and seven non-Japanese patients. Our analyses involving 12 Japanese and 13 non-Japanese patients and studies by others indicate that (1) there is no panethnically prevalent mutation; (2) the Arg508Trp, Gly581Ser, and Val550Met mutations are found in both Japanese and non-Japanese populations; (3) the IVS10+5G-->A mutation is predominant and probably a founder mutation in European patients; (4) the 655-656insA, Leu237Pro, and 780delG mutations are unique in Japanese patients; (5) the spectrum of the mutations in the HLCS gene may vary substantially among different ethnic groups.

Base Sequence↗
PubMed2001

An amebic lung abscess: report of a case.

Recently the number of amebiasis cases has increased in Japan. Pleuropulmonary amebiasis is a very rare complication of liver amebiasis. We report herein the case of a 54-year-old man presenting with an amebic lung abscess in his right lower lung. The diagnosis of lung amebiasis was established from a direct examination of the pus in which trophozoites of Entamoeba histolytica were detected. After the oral administration of metronidazole, the laboratory findings improved and he thus underwent a right lower lobectomy. He was discharged without any relapse of infection 20 days after a thoracotomy. We conclude that a protozoan infection should thus be suspected in the case of a pleuropulmonary infection in which several types of antibiotics prove to be ineffective.

Amebiasis↗
PubMed2001

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism caused by deficiency in the glycine cleavage system (GCS); this system consists of four individual constituents, P-, T-, H-, and L-proteins. Several mutations have been identified in P- and T-protein genes, but not in the H-protein gene (GCSH), despite the presence of case reports of H-protein deficiency. To facilitate the mutational and functional analyses of GCSH, we isolated and characterized a human p1-derived artificial chromosome (PAC) clone encoding GCSH. GCSH spanned 13.5kb and consisted of five exons. Using the PAC clone as a probe, we mapped GCSH to chromosome 16q24 by fluorescence in situ hybridization. The transcription initiation site was determined by the oligonucleotide-cap method, and potential binding sites for several transcriptional factors were found in the 5' upstream region. Direct sequencing analysis revealed five single-nucleotide polymorphisms. The expression profiles of P-, T-, and H-protein mRNAs were studied by dot-blot analysis, using total RNA from various human tissues. GCSH was expressed in all 29 tissues examined, while T-protein mRNA was detected in 27 of the 29 tissues. In contrast, the P-protein gene was expressed in a limited number of tissues, such as liver, kidney, brain, pituitary gland, and thyroid gland, suggesting distinct transcriptional regulation of each GCS constituent.

Alleles↗
PubMed2001

Development of the fiber neutron monitor for the energy range 15-100 MeV on the International Space Station (ISS).

In order to investigate the space environment, a new neutron monitor has been prepared. The sensor consists of scintillation fibers (FIB) and will be on board the exposed facility of the Japanese Experimental module (Kibo) of the International Space Station (ISS). The sensor is one of the instruments which measures the particle and plasma environment around the ISS. The sensor will be used by the cosmonauts who work on the ISS, to help them avoid a strong particle radiation which may arrive soon. We believe that such an alert is necessary for the cosmonauts to prevent unnecessary radiation from the sun. Furthermore, the sensor will be very useful in understanding the particle acceleration mechanism at the solar surface. The design of the Engineering Model (EM) was finished and its properties were investigated. This report discusses these results.

Equipment Design↗
PubMed2001

Cloning of porcine IGF1 receptor cDNA and detection of sequence polymorphisms using RT-PCR.

A cDNA encoding the porcine type 1 insulin-like growth factor receptor (IGF1R) was amplified by reverse transcriptase-polymerase chain reaction (RT-PCR). The sequence of a 4.2-kb product was determined and had an open reading frame, encoding 1367 amino acids with 98.1 and 95.2% sequence similarity to the human and rat IGF1R, respectively. In the comparison of RT-PCR derived IGF1R sequences from 12 unrelated pigs, 12 silent sequence variants were found.

Animals↗
PubMed2001

Characterization of CD44 expressed on alveolar macrophages in patients with diffuse panbronchiolitis.

Interleukin (IL)-8 may play an important role in neutrophil infiltration in the airways of patients with diffuse panbronchiolitis (DPB). Furthermore, alveolar macrophages could produce IL-8 subsequent to CD44-hyaluronic acid (HA) interaction. The purpose of this study was to evaluate the contribution of CD44 expressed on alveolar macrophages to the pathogenesis of DPB. We examined the concentration of soluble CD44 (sCD44) in bronchoalveolar lavage fluid (BALF) and CD44 expression on macrophages in BALF from patients with DPB before and after low-dose, long-term macrolide therapy. We also assessed the HA-binding ability of alveolar macrophages as a functional analysis of the CD44 molecule. The sCD44 concentration in BALF was significantly lower in patients with DPB than in healthy volunteers. Percentages of alveolar macrophages expressing low CD44 (CD44 low(+)) and HA-nonbinding alveolar macrophages were higher in patients with DPB compared with healthy volunteers. Furthermore, macrolide therapy normalized CD44 expression and HA-binding ability of macrophages in BALF from DPB patients. Our findings suggest that alveolar macrophage dysfunction could result from abnormalities of CD44 expression in patients with DPB and that these events could contribute to the pathogenesis of DPB.

Adult↗
PubMed2001

GJB2 (connexin 26) mutations and childhood deafness in Thailand.

HYPOTHESIS: The purpose of this study was to elucidate whether GJB2 mutations are responsible for childhood deafness in Southeast Asia. BACKGROUND: GJB2 mutations are responsible for a large part of childhood deafness in many countries. In Whites, there is a common mutation (35delG) that accounts for about 70 to 80% of the GJB2 mutations. Previously, we and others reported a common GJB2 mutation (235delC) in Japanese patients with prelingual deafness. The association of the 235delC mutation with a single haplotype suggested a founder effect of the mutation. METHODS: We analyzed the GJB2 gene in 17 deaf patients from 12 unrelated families in Thailand. Genomic DNA was extracted from peripheral lymphocytes of each patient and the entire coding region of the GJB2 gene was sequenced. RESULTS: GJB2 mutations were found in 4 patients in 3 families. Patient 1 was a homozygote of 235delC. Patient 2 was a compound heterozygote of 235delC and W24X (71G --> A). Patient 3A and 3B (in 1 family) were heterozygotes of a novel mutation M34L (100A --> T). CONCLUSION: The 235delC mutation may be widely distributed in Asian countries outside of Japan.

Child↗
PubMed2001

Ingestion of gelatin has differential effect on bone mineral density and body weight in protein undernutrition.

Malnutrition, particularly protein undernutrition, contributes to the occurrence of osteoporotic fracture by lowering bone mass. In this study, the effects of dietary protein on bone mineral density and body weight in protein undernutrition were compared between gelatin and milk casein. When mice were fed for 10 wk with a low protein diet containing 10(%) casein or 6% casein +4% gelatin, there was no significant difference in the final body weight between the 6% casein+4% gelatin group and the 10% casein group. In contrast, bone mineral content and bone mineral density of the femur were significantly higher in the 6% casein+4% gelatin group than in the 10% casein group. Bone mineral content and bone mineral density did not differ significantly in 14% protein groups between 14% casein and 6% casein +80% gelatin. These results suggest that gelatin has differential effects on bone mineral density and body weight in protein undernutrition.

Animals↗
PubMed2001

Localization of primordial germ cells or their precursors in stage X blastoderm of chickens and their ability to differentiate into functional gametes in opposite-sex recipient gonads.

This study was performed to determine the distribution of primordial germ cells and their precursors in stage X blastoderm of chickens. The blastoderm (Barred Plymouth Rock chickens) isolated from the yolk was separated into three portions: the central disc, the marginal zone and the area opaca. The dissociated blastodermal cells derived from the central disc, marginal zone and area opaca were transferred into a recipient blastoderm (White Leghorn chicken) from which a cell cluster was removed from the centre of the central disc. The manipulated embryos were cultured in host eggshells until hatching. The chicks were raised until sexual maturity and test mated with Barred Plymouth Rock chickens to assess the donor cell contribution to the recipient germline. Germline chimaeric chickens were produced efficiently (46.7%, 7/15) when the blastodermal cells derived from the central disc were transferred into recipient embryos of the same sex, whereas no germline chimaeric chickens were produced when the blastodermal cells derived from the marginal zone or area opaca were transferred into recipient embryos of the same sex (0/12). Germline chimaeric chickens were also produced by transfer of blastodermal cells derived from the central disc (6.7%, 1/15), marginal zone (10.0%, 1/10) or area opaca (11.1%, 1/9) into recipient embryos of the opposite sex. It is concluded that primordial germ cells are induced during or shortly after stage X and that the cells derived from the central disc have the highest potential to give rise to germ cells. Cells derived from the marginal zone and area opaca can also give rise to germ cells, although the frequency is low.

Animals↗
PubMed2001

[Acidemia, isovaleric].

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Amino Acid Metabolism, Inborn Errors↗
PubMed2001

[Evaluation of peripheral facial nerve palsy with R 2 wave latency in blink reflex].

Electrically elicited blink reflexes were investigated in 60 patients with peripheral facial nerve palsy. The purpose of this study was to evaluate the utility of analysis of R 2 wave in blink reflex as a prognostic indicator for the patients with facial palsy. The patients treated by stellate ganglion block were classified into three groups: Group I scored more than 90 points (full score is 100 points) within 2 weeks, Group II scored more than 90 points over 2 weeks, and Group III scored less than 90 points. The examinations were performed at the first visit, and 2, 4, 6 weeks after the onset of facial palsy. Latencies of ipsilateral and contralateral R 2 wave were measured by electrical stimulation on both side. There were significant differences of R 2 latency between ipsilateral and contralateral side in each of the three groups at the first visit. In Group II, contralateral R 2 latency obtained by stimulation of the paralytic side was prolonged significantly. In Group III, the ipsilateral R 2 wave was not observed. The results of this study indicate that measurement of the R 2 latency of blink reflex is useful in judging the severity of the peripheral facial nerve palsy. The R 2 latencies obtained by stimulation of ipsilateral and contralateral side should be used as one of the parameters for evaluation of the prognosis of patients with peripheral facial nerve palsy.

Adult↗
PubMed2001

[A case of rheumatoid arthritis associated with minimal change nephrotic syndrome].

A 55-year-old Japanese woman has been treated with various kinds of anti-rheumatic drugs under a diagnosis of rheumatoid arthritis(RA) for 18 years of disease duration. She persistently had right elbow joint pain and swelling and X-ray showed bone erosion on humerus. Thus, the synovectomy was performed with typical histopathology of RA on April 1999. On the end of February 2000, she had suddenly fatigue and anasarca with profound proteinuria of nephrotic syndrome. The renal biopsy showed minimal change glomerulopathy and no cellular infiltration in interstitial tissue by light microscopy and partial fusion of foot process by electron microscopy. Renal function was sustained normally. All of anti-rheumatic drugs including D-penicillamine(D-Pc) except NSAID were stopped and she was treated with bed rest, diet therapy, diuretics and albumin infusion without steroid therapy. Edema and proteinuria gradually disappeared. Membranous and amyloid nephropathy in RA patients associated with nephrotic syndrome are found in high incidence in literature. In low incidence, MCNS is associated with NSAID or D-Pc induced nephropathy in RA. In our case, nephrotic syndrome disappeared in 6 weeks without discontinuation of NSAID and application of steroid therapy. Thus, MCNS might be co-incidentally associated with RA.

Anti-Inflammatory Agents, Non-Steroidal↗