Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis

The gene encoding human desmoglein 4 (DSG4) was recently cloned, and a mutation in this gene has been reported in several consanguineous Pakistani families affected with localized autosomal recessive hypotrichosis (LAH). In addition, various mutations in the Dsg4 gene have been identified in animal models of hypotrichosis that share a characteristic phenotype called “lanceolate hair”. To date, the features of the hair-shaft anomaly in patients with LAH have not been well described. We report a Japanese patient affected with congenital hypotrichosis that was originally diagnosed as monilethrix because she had a hair-shaft abnormality that resembled moniliform hair. However, no mutations were found in the type II hair keratin genes, hHb1, hHb3, and hHb6, whose mutations cause monilethrix. Instead, we identified novel compound heterozygous mutations in the DSG4 gene of our patient. On the maternal allele is a novel S192P transition within the extracellular cadherin II domain of DSG4; on the paternal allele is a novel 2039insT mutation leading to the generation of unstable transcripts. Here we present the observation that mutations in the DSG4 gene can cause monilethrix-like congenital hypotrichosis. Based on our findings, we propose that LAH and monilethrix could overlap

A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia

This article is not an exact copy of the original published article in THROMBOSIS AND HAEMOSTASIS. The definitive publisher-authenticated version of THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010) is available online at: https://doi.org/10.1160/TH09-08-0540 .We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the γ-chain. This frameshift results in 25 amino acid substitutions, late termination of translation with elongation by 15 amino acids, and the introduction of a canonical glycosylation site. Western blot analysis of the patient’s plasma fibrinogen visualized with anti-γ-chain antibody revealed the presence of two extra bands. To identify the extra bands and determine which of the above-mentioned alterations caused the assembly and/or secretion defects in the patient, 11 variant vectors that introduced mutations into the cDNA of the γ-chain orγ’-chain were transfected into CHO cells. In vitro expression of transfectants containingγΔ7651A and γΔ7651A/399T (γΔ7651A with an amino acid substitution of 399Asn by Thr and a variant lacking the canonical glycosylation site) demonstrated a reduction in secretion to approximately 20% of the level seen in the transfectants carrying the normal γ-chain. Furthermore, results from other transfectants demonstrated that 8 aberrant residues between 391 and 398 of the M-VII variant, rather than the 15 amino acid extension or the additional glycosylation, are responsible for the reduced levels of assembly and secretion of M-VII variant fibrinogen. Finally, the results of this study and our previous reports demonstrate that the fibrinogen γ-chain C-terminal tail (388-411) is not necessary for protein assembly or secretion, but the aberrant amino acid sequence observed in the M-VII variant (especially 391-398) disturbs these functions.ArticleTHROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010)journal articl

“Interactive Experiential Learning With Young Children” in Junior High School Home Economics courses: Developing and implementing a class model using active learning

本研究は，中学校２年生の家庭科における「私たちの成長と家族 幼児とのふれあい」という題材名の授業において，課題を自ら解決する学習が可能なアクティブ･ラーニングを用いて、授業モデルを開発し、授業実践し、検証することを目的とする。 本研究で開発した「コミュニケーション能力を育成する授業モデル」は、次のような特徴を持つ。 ①幼児の保護者と生徒が直接的・間接的にかかわることによって、幼児の理解を深めた。 ②幼児とのふれあい体験の事後学習に「幼児とのふれあいＱ＆Ａ集」を作成した。 ③幼児の心身の発達をより深く理解するために、生徒は自分の家族や幼稚園教員と話し合い，課題を解決した。 ④幼児とのふれあいを衣生活や食生活とも関連させた。The purpose of this study is to develop, put into practice and verify a class model that uses active learning, which allows students to solve problems on their own, in a Home Economics class for 8th grade students with the theme, “Our growth and family: Interaction with young children.” The “Class model for nurturing communication skills,” developed in this study has the following characteristics. (1) Deepening the understanding of young children through direct and indirect involvement of young children’s parents and students. (2) Creating a “FAQ of interactions with young children,” in the post learning of the interactive practice with the young children. (3) Students having discussions with their families and kindergarten teachers and solving problems in order to have a better understanding of the mental and physical development of the young children. (4) The interactions with young children are also related to clothing and eating habits

がん領域におけるピアサポートの生涯学習的視点

がん領域におけるピアサポートを、ピアサポート、がんピアサポート研究および生涯学習の観点から考察し、がんピアサポートの可能性と課題を検討した。がんピアサポートは、学びの相互性や循環、がん体験の意味づけ、自己受容につながることなどから、生涯学習と位置づけることができると考えられる。がんという共通課題を持つ人々による課題克服への取り組みは、共同社会の基盤形成にもつながる。がんピアサポートが新しい社会資源として十分に認知されていない現況から、社会全体の取り組むべき学習課題とみなすことに一定の意義が見いだせる

High levels of soluble C5b-9 complex in dialysis fluid may predict poor prognosis in peritonitis in peritoneal dialysis patients

Background We searched for indicators to predict the prognosis of infectious peritonitis by measuring levels of complement proteins and activation products in peritoneal dialysis (PD) fluid (PDF) of patients at early stages of peritonitis. We retrospectively analyzed the relationship between the levels of sC5b-9, C3 and C4 in PDF and the subsequent clinical prognosis. Methods We measured levels of sC5b-9, C3 and C4 in PDF on days 1, 2 and 5 post-onset of peritonitis in 104 episodes of infectious peritonitis in PD patients from 2008 and retrospectively compared levels with clinical outcomes. Further analysis for the presence of causative microorganisms or to demonstrate bacterial culture negative peritonitis was performed and correlated with change of levels of sC5b-9 in PDF. Results When PD patients with peritonitis were divided into groups that either failed to recover from peritonitis and were finally withdrawn from PD (group 1; n = 25) or recovered (group 2; n = 79), levels of sC5b-9, C3 and C4 in PDF were significantly higher in group 1 patients compared to those in group 2 on day5. Analysis of microorganisms showed significantly higher sC5b-9 levels in PDF of peritonitis cases caused by culture negative peritonitis in group 1 compared with group 2 when we analyzed for individual microorganisms. Of note, on day5, the sC5b-9 levels in PDF were similarly high in peritonitis caused by fungi or other organisms. Conclusion Our results suggested that levels of complement markers in PDF, especially sC5b-9, have potential as surrogate markers to predict prognosis of PD-related peritonitis

Two new Ceratocystis species associated with mango disease in Brazil

Mangifera indica, a disease known as mango blight, murcha or seca da mangueira in Brazil, is caused by the canker wilt pathogen Ceratocystis fimbriata sensu lato. It is also closely associated with infestation by the non-native wood-boring beetle Hypocryphalus mangiferae (Coleoptera: Scolytinae). The aim of this study was to characterize Ceratocystis isolates obtained from diseased mango trees in Brazil. Identification was based on sequence data from ITS1+5.8S+ITS2 rDNA, part of the Beta-tubulin 1 gene, and part of the Transcription Elongation Factor 1-alpha gene. The Brazilian isolates grouped in two well defined and unique clades within C. fimbriata s.l. These were also distinct from C. manginecans, which causes a similar disease associated with H. mangiferae in Oman and Pakistan. Based on sequence comparisons and morphological characteristics, isolates representing the two phylogenetic clades are described as C. mangicola sp. nov. and C. mangivora sp. nov.The National Research Foundation (NRF), members of the Tree Protection Co-operative Programme (TPCP), the THRIP initiative of the Department of Trade and Industry, and the Department of Science and Technology (DST)/NRF Centre of Excellence in Tree Health Biotechnology (CTHB).http://www.mycotaxon.com/nf201

本学の成人看護学における看護技術教育

報告Report2003年3月、厚生労働省から公表された、「看護基礎教育における技術教育のあり方に関する検討会報告書」を受け、2003・4年度に実施した看護技術教育について検討・評価を行った。2001・2年度入学生の看護基礎教育課程・成人看護学は、成人看護方法論I～IV、成人看護実習I・IIの6科目で構成されている。成人看護学では、看護技術の原理・原則を基盤として、技術の応用と発展的な学習を目標に取り組んだ。成人看護方法論IIでは、心電図検査・肺機能検査を実施した。すべての学生が操作方法を理解し、正確な検査結果を得ていた。臨地実習では、実習前の自己学修課題・期間中の学内演習・臨地実習中に体験した看護技術を調査した。調査結果から、学生が実習中に見学・体験できる看護技術は必ずしも多いとは言えなかった。さらに、学習環境の整備・教育方法の工夫に積極的に取り組む必要がある