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11 results on '"Arai, Natsuko"'

4. Dietary zinc-deficiency and its recovery responses in the thermogenesis of rats

Author

Sakakibara, Yuko, primary, Sato, Shogo, additional, Shirato, Ken, additional, Arai, Natsuko, additional, Aritoshi, Shoko, additional, Ogawa-Nakata, Naho, additional, Kawashima, Yu, additional, Someya, Yui, additional, Akimoto, Shunta, additional, Jinde, Manabu, additional, Shiraishi, Akira, additional, Ideno, Hisashi, additional, Tachiyashiki, Kaoru, additional, and Imaizumi, Kazuhiko, additional

Published
2011
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5. Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase І (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan

Author

Tsuburaya, Rie, primary, Sakamoto, Osamu, additional, Arai, Natsuko, additional, Kobayashi, Hironori, additional, Hasegawa, Yuki, additional, Yamaguchi, Seiji, additional, Shigematsu, Yosuke, additional, Takayanagi, Masaki, additional, Ohura, Toshihiro, additional, and Tsuchiya, Shigeru, additional

Published
2010
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10. Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.

Author

Tsuburaya R, Sakamoto O, Arai N, Kobayashi H, Hasegawa Y, Yamaguchi S, Shigematsu Y, Takayanagi M, Ohura T, and Tsuchiya S

Subjects
DNA Mutational Analysis methods, Female, Humans, Infant, Newborn, Japan, Lipid Metabolism, Inborn Errors diet therapy, Lipid Metabolism, Inborn Errors physiopathology, Carnitine O-Palmitoyltransferase deficiency, Lipid Metabolism, Inborn Errors diagnosis, Neonatal Screening methods, Tandem Mass Spectrometry methods
Abstract

Carnitine palmitoyl transferase I (CPT I) deficiency is a rare disorder of long-chain fatty acid oxidation. It is one of the metabolic diseases detectable by tandem mass spectrometry. We report herein a presymptomatic CPT I deficiency detected in a Japanese female newborn by tandem mass spectrometry newborn screening. A mutation analysis of the CPT1A gene revealed two novel mutations, p.R446X and p.G719D., (Copyright 2009 Elsevier B.V. All rights reserved.)

Published
2010
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11. [High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease].

Author

Arai N, Uematsu M, Abe Y, Fukuyo N, Wakusawa K, Kikuchi A, Sakamoto O, Ohura T, and Tsuchiya S

Subjects
Child, Preschool, Gaucher Disease diagnosis, Gaucher Disease enzymology, Gaucher Disease genetics, Genotype, Humans, Japan, Lung Diseases diagnosis, Male, Tomography, X-Ray Computed methods, Treatment Outcome, Enzyme Replacement Therapy methods, Gaucher Disease drug therapy, Lung Diseases drug therapy
Abstract

Pulmonary involvement is a serious complication in Gaucher disease, as is neuronopathic involvement. Few reports are available, however, on the frequency, clinical course and therapy for pulmonary involvement in patients with Gaucher disease. We report a case of type 2 Gaucher disease with severe hepatosplenomegaly, anemia, hypertonia, and psychomotor retardation. The diagnosis of Gaucher disease was confirmed by the presence of Gaucher cells in bone marrow and low serum beta-glucocerebrosidase activity (patient, 0.8; control, 4.1-9.7 nmol/mg.protein/hr) at the age of 1 year. The patient's genotype is L444P/unknown. Enzyme replacement therapy (ERT) with intravenous imiglucerase at 78 U/kg/2weeks was started, and hepatosplenomegaly and laboratory abnormalities were markedly improved after 6 months of therapy. After 8 months of therapy, respiratory impairment appeared together with a decrease of tidal volume and low SpO2 during sleep. Serum acid phosphatase and angiotensin converting enzyme levels mildly increased, and radiological findings showed bilateral ground-glass appearance without signs of respiratory infection. With the diagnosis of progressive pulmonary involvement in Gaucher disease, we increased the dosage of imiglucerase from 50 to 75 U/kg/2 weeks. After a month, respiratory symptoms and CT findings of ground-glass appearance remarkably improved, but interlobular septal and intralobular interstitial thickening persisted. The maximum permitted dosage of imiglucerase in Japan is 60 U/kg/2 weeks. Based on our experience with this case, we propose that a higher ERT dosage would be uselul for serious pulmonary involvement.

Published
2010

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