194 research outputs found

    Novel Point Mutations in the Steroid Sulfatase Gene in Patients with X-Linked Ichthyosis: Transfection Analysis Using the Mutated Genes

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    X-linked ichthyosis is caused by steroid sulfatase deficiency which results from abnormalities in its coding gene. The majority of X-linked ichthyosis patients (≈90%) have complete or partial deletions of the steroid sulfatase gene. In this study, we examined the mutations of the steroid sulfatase gene in two unrelated X-linked ichthyosis patients without complete deletion of the gene. Polymerase chain reaction–single-strand conformation polymorphism and direct sequencing analyses showed that each patient has a different single base pair substitution within exon 8 encoding the C-terminal half of the steroid sulfatase polypeptide. Both mutations resulted in the transversion of functional amino acids: a G→C substitution at nucleotide 1344, causing a predicted change of a glycine to an arginine, and a C→T substitution at nucleotide 1371, causing a change from a glutamine to a stop codon. In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients

    A Case of Hypocalcaemia Due to Vitamin D Deficiency in ‘Hikikomori’ Syndrome

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    Objective: To describe hypocalcaemia due to vitamin D deficiency in ‘hikikomori’ syndrome. Materials and methods: A 37-year-old man with ‘hikikomori’ syndrome for a year was admitted with hypocalcaemia (serum ionic calcium 1.17 mmol/l). Serum 1,25(OH)2-vitamin D3 determined by liquid chromatography–tandem mass spectrometry was depressed at 12.1 pg/ml (29.0 pmol/l) and plasma intact PTH elevated at 324 ng/l. Administration of 1 μg/day 1α(OH)-vitamin D3 and 1 g/day calcium lactate for 1 week normalized calcium and PTH, and raised 1,25(OH)2-vitamin D3 to low normal levels. Conclusion: This is the first report of hypocalcaemia due to vitamin D deficiency in a patient with ‘hikikomori’ syndrome

    Effect of ice algal community on the increase of chlorophyll a concentration during spring in coastal water of the Sea of Okhotsk

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    A seasonal study of size fractionated chlorophyll α concentration was conducted weekly in Monbetsu Harbor from October 1996 to November 1997 to investigate the annually persistent occurrence of the spring peak of the chlorophyll α concentration in the >10μm size fraction immediately after the retreat of sea ice, as described by K. Hamasaki et al. (Plankton Biol. Ecol., 45,151,1998). Species composition of natural phytoplankton assemblages was also investigated to study whether phytoplankton or ice algae were responsible for the spring peak in the coastal water. The spring peak occurred immediately after the retreat of sea ice but timing of the occurrence was different between the stations occupied in the present study. The spatial heterogenity in occurrence of the spring peak seemed to be related to the sea ice distribution between the stations. New sea ice provided only a small supply of ice algae due to the relatively short growth period inside of the harbor. Large ice floes provided for a large supply of ice algae due to the long growth period outside of the harbor. The magnitude of the spring peak was related to sea ice growth. However, those ice algae seemed to sink to the bottom with little contribution to phytoplankton assemblage in the harbor, while ice algae contributed significantly to the spring peak outside of the harbor. Species composition revealed relatively fast response of phytoplankton to the environmental change after the disappearance of sea ice. Surface assemblages of phytoplankton including ice algae seemed to respond fully to the regional optical condition by changing in the species composition

    Higher prevalence of obstructive airway disease in patients with thoracic or abdominal aortic aneurysm

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    AbstractBackground and Aim: The risk factors of aortic aneurysm (AA) are comparable with those described for chronic obstructive pulmonary disease. This study was performed to determine whether patients with AA have a higher than average prevalence of obstructive airway disease. Methods: We performed pulmonary function tests in 240 consecutive patients (182 men and 58 women; age, 70 ± 10 years) with thoracic or abdominal AA. The results were compared with those in individuals without obvious cardiovascular disease (control) and in patients with coronary artery disease who were matched for age, gender, smoking status, and other atherosclerotic risk factors. Results: Patients in the AA group had a lower forced expiratory volume in 1 second/forced vital capacity (%) and carbon monoxide diffusing capacity (%/predicted value) than did the control group (P < .01). The proportion of patients with airway obstruction, defined as forced expiratory volume in 1 second/forced vital capacity of 70% or less, was higher in the AA group (100/240; 42%) than in the control (51/223; 23%) and coronary artery disease (43/238; 18%) groups. Multiple logistic regression analysis results revealed that the presence of an AA and male gender were associated with a higher risk of airway obstruction (odds ratio, 2.928; 95% CI, 1.722 to 4.979; and odds ratio, 1.622; 95% CI, 1.055 to 2.493, respectively). Conclusion: These data suggest that AA may be a risk factor indicative of the presence of chronic obstructive pulmonary disease. A higher prevalence of depressed pulmonary function should be suspected as a preoperative risk in presence of thoracic or abdominal AA as compared with other types of cardiovascular disorders. (J Vasc Surg 2002;36:35-40.

    Information Provision Service about Teacher Profession called “Okadai Kyoshoku Navi.”:Survey Results and Issues

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     岡山大学教師教育開発センターでは,教職情報提供サービス「岡大教職ナビ」の提供を平成23年11月より開始した。岡大教職ナビでは,NetCommons を活用して教職課程・教務関連情報やボランティア情報,各種イベント情報や教員・講師等募集情報,教員採用試験関連情報等をウェブサイトやメールを通して随時提供している。そこで開始より1 年間の経過を機に,利用者を対象としサービスの向上と改善を目的としたアンケート調査を実施した。その結果,多くの利用者が当サービスの必要性を感じながらも,有用性については実感できないことが判明した。その理由としては,個々のニーズに応じた情報提供がなされていない現状が浮き彫りとなった。そこで当センターとして利用方法の周知徹底と,情報の分類,配信方法の改善を検討し,更なるサービス向上に向けて対応する必要がある

    An Approach and Issues on School-Volunteer at Okayama University - A survey of students’ attitudes -

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     岡山大学教師教育開発センターでは,学生が学校園等で教育活動支援を行うスクールボランティア事業に岡山県教育委員会や岡山市教育委員会等と連携し取り組んでいる。本学では「スクールボランティアビューロー」が調整役として学生に対して様々な支援を行っている。本論ではまず,スクールボランティア事業の取り組みについて概観し,現状課題として,手続き・情報発信におけるウェブサイト活用,学校園ニーズと学生シーズのマッチング支援,ボランティア登録学生に対するサポートの3点について指摘する。さらに,これらについて,平成25年度実施したスクールボランティア説明会に参加した学生に意識調査を実施した。その結果,ウェブサイトの活用について肯定的にとらえている一方で,マッチング支援や個に応じた学生サポートの必要性を強く感じていることが分かった

    A Report of Website Construction with “NetCommons” for All-University Teacher-Training Course― For the Portal Site about Teaching Profession at Okayama University ―

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    岡山大学教師教育開発センターでは、ウェブサイトを活用した全学教職課程を支える学生サービスの提供を開始するため、新たなウェブサイトを構築した。まず、想定される利用者を明らかにし、全体のページ構成について検討し、そこから必要となる機能を導き出した。そこで、国立情報学研究所が開発したContents Management System(CMS)「NetCommons」を導入し、必要なカスタマイズを行った。また、NetCommonsをインストールするサーバーについては、岡山大学情報統括センターが提供する「クラウドホスティングサービス」を活用して、アクセス制限や統合認証等にも対応した。ウェブサイト構築後は、まず教職員向けの機能理解・利用促進を図る取組を展開した

    A novel dimerization of 1-hydroxyindoles

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    金沢大学大学院自然科学研究科生理活性物質科学金沢大学薬学部1-Hydroxyindoles are sensitive to acids and undergo four types of competing reactions; dehydroxylation, nucleophilic substitution, dimerization, and formation of hexacyclic dimer. The direction of the reaction seems to be determined depending on the subtle balance of substrate structures, acids, and reaction conditions. Stuctures of variety of products are unequivocally determined by X-ray single crystallographic analyses and chemical correlations
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