岡山医学会Acta Medica Okayama0030-155813732025遺伝性腫瘍に関する大学生の知識と意識調査126131ENReimiSogawaDepartment of Clinical Genetics and Genomic Medicine, Kagawa University HospitalTakahitoWadaDepartment of Genomic Medicine, Kyoto University Graduate School of MedicineAkiraHirasawaDepartment of Clinical Genomic Medicine, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityKensukeKumamotoDepartment of Clinical Genetics and Genomic Medicine, Kagawa University HospitalIoriOhmoriSpecial Needs Education, Faculty of Education, Okayama University Genomic information plays a critical role in the diagnosis and treatment of various diseases, as well as in the management of asymptomatic individuals. This study assessed the knowledge and understanding of genetics and hereditary cancer among college students who received cancer education in Japan. The study subjects were students from fields such as education, medicine, law, and economics who participated during the period from February to December 2023. The students attended in-person lectures on genomic medicine, and they were then asked to complete an anonymous survey via Google Forms. Over 90％ of the participants reported understanding the content of the lectures, and >80％ indicated that they found the lecture's content understandable at a junior high school level. Over 60％ felt that the appropriate time to begin such education would be in late elementary or junior high school. These results indicate a high level of acceptance of hereditary cancer education among young people. However, challenges remain in their understanding of the roles of genetic factors in cancer development and the mechanisms by which inheritance and phenotype are manifested. The relevant educational programs need to be further refined and strengthened.No potential conflict of interest relevant to this article was reported.Elsevier B.V.Acta Medica Okayama0304-41651869122025The F54L mutation of Thioredoxin shows protein instability and increased fluctuations of the catalytic center130860ENTakumiBabaLife Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 CenterGoUenoLife Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 CenterChikaOheLife Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 CenterShukuSajiStructural Biology Division, Japan Synchrotron Radiation Research InstituteSachikoYamamotoStructural Biology Division, Japan Synchrotron Radiation Research InstituteMasakiYamamotoLife Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 CenterHiroshiNakagawaMaterials Sciences Research Center, Japan Atomic Energy AgencyNobuoOkazakiNeutron Science and Technology Center, Comprehensive Research Organization for Science and Society (CROSS)MamoruOuchidaDepartment of Molecular Oncology, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityIoriKawasaki-OhmoriSection of Developmental Physiology and Pathology, Faculty of Education, Okayama UniversityKoheiTakeshitaLife Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 CenterThioredoxin is a ubiquitous redox protein that acts as an electron donor via its conserved dithiol motif (C32GPC35), catalyzing dithiol–disulfide exchange to regulate the redox state of target proteins. It supports antioxidant defense via peroxiredoxins, facilitates DNA synthesis by donating electrons to ribonucleotide reductase, and regulates redox-sensitive signaling pathways, including those controlling transcription and apoptosis. Neuronal degeneration and chronic kidney disease have been observed in Txn-F54L mutant rats; however, the details of why the Txn mutation causes these phenomena remain unknown. The present study aimed to elucidate the functional and structural changes caused by the F54L mutation. The Thioredoxin-F54L showed less insulin-reducing activity and more thermosensitivity to denaturation in the body temperature range compared to the wild type. The crystal structure revealed that F54 forms hydrophobic interactions with the surrounding hydrophobic amino acids. In addition, molecular dynamics simulation predicts increased fluctuations around the F54L mutation and a tendency for the distance between residues C32 and C35 at the catalytic center to be widened. The increased distance between residues C32 and C35 of the catalytic center may affect the reducing activity of the enzyme on the substrate. The finding that Thioredoxin-F54L is prone to denaturation at normal body temperature may reduce the normally functioning Thioredoxin. These molecular characteristics of Thioredoxin-F54L may be related to brain and kidney disease development in the Txn-F54L rats.No potential conflict of interest relevant to this article was reported.岡山大学大学院教育学研究科Acta Medica Okayama1883-24231892025二分脊椎症の病態理解に基づく教育現場での支援6774ENIoriOHMORI (KAWASAKI)Faculty of Education，Okayama UniversityMitsukoYAMANAKAOkayama prefectural Okayama east special needs school10.18926/bgeou/69238 二分脊椎症のある子どもは、症状の個人差が大きく、肢体不自由特別支援学校だけでなく普通学級にも多く在籍している。本研究の目的は，二分脊椎症の病態に基づき、教育現場での支援の在り方について、先行研究の知見をまとめ、教育上の課題をあきらかにすることである。<br>
二分脊椎症には、下肢の運動障害と感覚障害、排泄障害に加え、水頭症をはじめとした様々な合併症があることから、運動面、生活面、認知面において適切な支援を要する。さらに、思春期以降になると、脊髄係留による疼痛の出現や、歩行能力の低下に注意する必要がある。神経因性膀胱による排尿障害を合併する場合は、清潔間欠導尿を行う。学校生活を楽しいと肯定的に捉えていた子どもたちのほとんどは、清潔間欠導尿を介助無しあるいは一部の介助のみで排尿することができていた。このことから、担任は、身体的、認知的な支援と配慮に加え、多職種と密な連携を取りながら清潔間欠自己導尿を目指した自立活動の指導を進めることと、良好な友人関係を築くための支援を行うことが重要と思われた。No potential conflict of interest relevant to this article was reported.岡山大学大学院教育学研究科Acta Medica Okayama1883-24231892025性暴力を根絶するための性教育を問う5766ENIoriOHMORI (KAWASAKI)Faculty of Education，Okayama UniversityAyanoKOMATSUFaculty of Education，Okayama UniversityChihiroTAKADAFaculty of Education，Okayama University10.18926/bgeou/69237 性暴力は、被害者の心身の健康状態に長年にわたって重大な悪影響を及ぼすことが知られている。本研究の目的は、日本における性暴力の実態を文献・資料によって調査し、性暴力を根絶するために求められる性教育を提議することである。内閣府が実施したアンケート調査によると、言葉による性暴力被害は17.8％ 、同意のない性交等の被害は4.1％と報告されていた。被害を受けた場所は学校（ 22.5%）が最多であり、加害者との関係は、「通っていた（いる）学校・大学の関係者（教職員、先輩、同級生、クラブ活動の指導者など）」（ 36.0%）が最も多く、被害者の半数以上は誰にも相談していなかった。これらのデータは、学校においてこそ、性暴力を根絶するための性教育を実施すべきであることを物語っている。しかしながら、学習指導要領に「性的同意」に関する指導は含まれておらず、教科書の記述も極めて限定的であった。性暴力のない社会を実現するためには、幼少期から絵本等を用いた教育やロールプレイを通じた実践的学習が望まれる。No potential conflict of interest relevant to this article was reported.メディカルレビュー社Acta Medica Okayama1882-14801822024ナトリウムチャネル異常とてんかん125132ENNo potential conflict of interest relevant to this article was reported.WileyActa Medica Okayama0013-95806372022Novel animal model of combined generalized and focal epilepsye80e85ENIoriOhmoriSection of Developmental Physiology and Pathology, Faculty of Education, Okayama UniversityMamoruOuchidaDepartment of Molecular Oncology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama UniversityMasakazuShinoharaDivision of Epidemiology, Kobe University Graduate School of MedicineKiyokaKobayashiOtsuka PharmaceuticalSaekoIshidaDivision of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, University of TokyoTomojiMashimoDivision of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, University of TokyoThioredoxin, encoded by Txn1, is a critical antioxidant that protects against oxidative damage by regulating the dithiol/disulfide balance of interacting proteins. We recently discovered the Adem rat, an epileptic rat harboring the Txn1-F54L mutation, characterized by wild running and vacuolar degeneration in the midbrain. This study aimed to characterize the classification of epilepsy in Adem rats. We performed simultaneous video-electroencephalographic recordings, magnetic resonance imaging, neurotransmitter measurements using gas chromatography–mass spectrometry (GC-MS), and immunohistochemistry. Adem rats exhibited absence, tonic, and focal seizures. The type of epilepsy was classified as combined generalized and focal epilepsy. Neurotransmitters in the midbrain and cortex were measured at 3 weeks of age, when neuronal cell death occurs in the midbrain. The results of GC-MS ruled out the dominance of the excitatory system in the midbrain and cortex of Adem rats. Activation of astrocytes and microglia was more pronounced at 5 weeks of age, at which time epileptic seizures occurred frequently. The underlying pathology in Adem rats remains unknown. However, glial cell activation and inflammation may play a significant role in the occurrence of epilepsy.No potential conflict of interest relevant to this article was reported.Elsevier BVActa Medica Okayama0969-99611752022Thioredoxin deficiency increases oxidative stress and causes bilateral symmetrical degeneration in rat midbrain105921ENIoriOhmoriSection of Developmental Physiology and Pathology, Faculty of Education, Okayama UniversityMamoruOuchidaDepartment of Molecular Oncology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityHirohikoImaiDepartment of Systems Science, Kyoto University Graduate School of InformaticsSaekoIshidaDivision of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, The University of TokyoShinyaToyokuniDepartment of Pathology and Biological Responses, Nagoya University Graduate School of MedicineTomojiMashimoDivision of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, The University of TokyoThioredoxin, encoded by Txn1, acts as a critical antioxidant in the defense against oxidative stress by regulating the dithiol/disulfide balance of interacting proteins. The role of thioredoxin in the central nervous system (CNS) is largely unknown. A phenotype-driven study of N-ethyl-N-nitrosourea-mutated rats with wild-running seizures revealed the importance of Txn1 mutations in CNS degeneration. Genetic mapping identified Txn1-F54L in the epileptic rats. The insulin-reducing activity of Txn1-F54L was approximately one-third of that of the wild-type (WT). Bilateral symmetrical vacuolar degeneration in the midbrain, mainly in the thalamus and the inferior colliculus, was observed in the Txn1-F54L rats. The lesions displayed neuronal and oligodendrocytic cell death. Neurons in Txn1-F54L rats showed morphological changes in the mitochondria. Vacuolar degeneration peaked at five weeks of age, and spontaneous repair began at seven weeks. The TUNEL assay showed that fibroblasts derived from homozygotes were susceptible to cell death under oxidative stress. In five-week-old WT rats, energy metabolism in the thalamus was significantly higher than that in the cerebral cortex. In conclusion, in juvenile rats, Txn1 seems to play an essential role in reducing oxidative stress in the midbrains with high energy metabolism.No potential conflict of interest relevant to this article was reported.GID(性同一性障害)学会Acta Medica Okayama18835228122019性的マイノリティ当事者の語りは聴き手の性的マイノリティへの印象や当惑感を改善する103110EN岡山大学特別支援教育特別専攻科川崎医療福祉大学医療福祉学部IoriOhmoriGraduate School of Education, Okayama University本研究の目的は，性的マイノリティ当事者の語りが，聴講者の性的マイノリティへの態度や認識に及ぼす変化を明らかにすることである．当事者が現職の学校教員と校長を対象に50分の講話をし，講演の前後に質問紙調査を行い，印象や当惑感，理解の困難さについて数値化し，変化を調べた．調査内容は，印象の測定にはSD法を使用し，印象の「身近さ」因子に含まれる6項目について7件法で回答を求め，当惑感については8項目，理解困難については2項目の尺度を使用し，6件法で回答を求めた．その結果，参加者は性的マイノリティをより身近に感じるようになり，当惑感や理解困難等の否定的な態度や認識が有意に軽減した．No potential conflict of interest relevant to this article was reported.岡山大学教師教育開発センターActa Medica Okayama2186-1323112021算数障害生徒への学習支援に関する文献レビュー293306ENKumikoSUEHIROOkayama University, Postgraduate Special Education Credential ProgramIoriOhmoriOkayama University, Graduate School of Education10.18926/CTED/61581本研究の目的は、中学校通常学級での算数障害生徒への学習支援に関する研究・実践について整理し、支援の方法及び内容と今後の課題を明らかにすることである。中学校・高等学校での学習支援に関する実践論文を中心に文献調査を行い、①学習形態②ICT や教材教具 ③学習内容④学習意欲の４つに焦点をあてて検討した。生徒の障害特性のアセスメントをもとに適切な学習形態や教材を選択すること、支援体制を構築することの重要性が明らかになった。学習内容では、「数と式」領域に個別の支援の実践例が多いこと、学習意欲では、算数障害生徒は心理的サポートが必要であり、生徒の気持ちを尊重しながら支援する必要があることが指摘されていた。ICT を活用した新しい支援方法や内容とその効果の検証、及び算数障害生徒の個々の特性に合わせた学習支援コンテンツの開発が今後の課題であり、生徒の状況に応じた柔軟な支援法を選択していくことが重要であると言える。No potential conflict of interest relevant to this article was reported.岡山大学教師教育開発センターActa Medica Okayama2186-1323112021性的マイノリティに関する授業が性的マイノリティへの知識や受容感に及ぼす影響 : 性的マイノリティに関する授業の前後で7588ENYukinaNODAStudent at the Graduate School of Education, Okayama UniversityTsuyoshiYAMADAGraduate School of Urban Social and Cultural Studies, Yokohama City UniversityIoriOHMORIGraduate School of Education, Okayama University10.18926/CTED/61566本研究の目的は，性的マイノリティへの関心やレディネスが備わっていない場合であっても授業を受けることにより性的マイノリティへの受容感や知識及び自身の知識に対する自信が変化するかどうかを明らかにすることである。方法は，教員志望の学生を対象に 100分の授業を実施した。調査項目は，性的マイノリティに関する知識量および正答確信度と同性愛者受容感尺度であった。結果は，授業を受けることで，有意に性的マイノリティに関する知識量が増え，同性愛者への受容感が高まることが分かった。しかし，受容感に対する授業の効果量は僅かであった。正答確信度に関しては，授業前は，誤った知識をもっている人ほど自分の知識に自信をもっていたが，授業後は，正しい知識を持っている人ほど自分の知識に自信を持っているという正の相関へ転じた。以上の結果から，性的マイノリティに対する受容感を高める効果的な授業の方法を模索していく必要があると考えられた。 No potential conflict of interest relevant to this article was reported.Japanese Association for Laboratory Animal ScienceActa Medica Okayama1341-13576922020Poor mother-offspring relationships in rats with Cacna1a mutation153160ENNozomiKawakamiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityKiyokaKobayashiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityAyumuNishimuraOkayama UniversityIoriOhmoriDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityHomozygous Groggy dams, which carry a Cacna1a missense mutation, often show no interest in their offspring, leading to frequent offspring deaths due to lack of nurturing. The present study aimed to clarify whether the Cacna1a mutation contributes to impaired attachment behaviors between dam and offspring. The open field test showed that homozygous female rats exhibited markedly short travel distance, whereas no difference was found between the motor activity of heterozygous females and that of wild types (WT). A series of behavioral tests was performed to compare the mother–offspring relationship between WT and heterozygous rats. Performance in the pup retrieval test was significantly less successful in heterozygous than WT dams. During the experiment, heterozygous dams spent significantly less time licking and crouching than WT dams. The offspring dam-seeking behavior test revealed that heterozygous pups’ vocalizations were significantly less frequent and shorter than those of WT pups. Although no significant difference was found between WT and heterozygous offspring in the olfactory sense test, using a piece of chocolate, heterozygous pups took significantly longer to reach a sample of the dam’s bedding. Taken together, these findings suggest that the Cacna1a mutation impairs both the dam’s maternal behavior and the offspring’s attachment behavior toward the damNo potential conflict of interest relevant to this article was reported.ElsevierActa Medica Okayama0197-01861412020Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats104859ENIoriOhmoriGraduate School of Education, Okayama UniversityKiyokaKobayashiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityMamoruOuchidaDepartment of Molecular Oncology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityThis study aimed to examine the effects of Cacna1a mutation on the phenotype of Scn1a-associated epilepsy in rats. We used rats with an N1417H missense mutation in the Scn1a gene and others with an M251K mutation in the Cacna1a gene. Scn1a/Cacna1a double mutant rats were generated by mating both Scn1a and Cacna1a mutants. We investigated general health and the epileptic phenotype in all these genotypes. The onset threshold of hyperthermia-induced seizures was examined at 5 weeks and spontaneous seizures were monitored using video-EEG recordings from 6 to 12 weeks of age. Scn1a/Cacna1a double mutants showed significantly reduced threshold for hyperthermia-sensitive seizures onset compared with the Scn1a mutants and had absence seizures having 6–7 c/s spike-wave bursts with changes in the spike-wave pattern, whereas Cacna1a mutants had regular 6–7 c/s spike-wave bursts. In Scn1a/Cacna1a double mutants, 6–7 c/s spike-wave bursts were accompanied with eyelid myoclonia and continuously shifting generalized clonic seizures, which were not observed in either Scn1a or Cacna1a mutants. Although a curvature of the spine was observed in rats of all these genotypes, the degree of curvature was more pronounced in Scn1a/Cacna1a double mutants, followed by Cacna1a and Scn1a mutants. Our results indicate that Cacna1a and Scn1a mutations mutually alter their original phenotypes in rats. The phenotype of absence seizures with eyelid myoclonia, generalized clonic seizures, and of spine curvature in the Scn1a/Cacna1a double mutants were similar to that observed in patients with Dravet syndrome.No potential conflict of interest relevant to this article was reported.岡山大学大学院教育学研究科Acta Medica Okayama1883-24231742020映画「私の中のあなた」から考える 終末期小児がんの子どもと家族がより良く生きるための支援1523ENIoriOhmoriGraduate School of Education, Okayama University10.18926/bgeou/60557本研究の目的は，終末期小児がんの子どもと家族の思いを知り，彼らがより良く生きるための課題を明らかにすることである。方法として小児がん患児の発病から終末期までを描いた映画「私の中のあなた」を用い，患児や家族の気持ちが表れる場面をとりあげ，その各場面について研究論文を基に詳しく読み解いた。子どもが終末期により良く生きるために必要とされていることは，子どもの希望を尊重し，意思決定を支援すること，家族の苦悩に寄り添い，子どもと家族の意思が異なり葛藤する時には合意形成を支援すること，兄弟姉妹の抱える困難を理解し支援することが考えられた。No potential conflict of interest relevant to this article was reported.岡山大学大学院教育学研究科Acta Medica Okayama1883-24231742020ADHD患児とその保護者の服薬アドヒアランス調査914ENIoriOhmoriGraduate School of Education, Okayama UniversityKyokoMinamiEx-Division of Developmental Studies and Support, Graduate School of Education (Master’s Course), Okayama UniversityShigeruOhnoOhno Hagukumi ClinicMakioOkaDepartment of Child Neurology, Okayama University Medical School10.18926/bgeou/60556【目的】注意欠如・多動症（ADHD）の患児とその保護者が薬物治療をどのように評価し，治療に向き合っているのかを明らかにする。【方法】ADHDの診断を受け，メチルフェニデート徐放剤およびアトモキセチンを処方された小１から高３までの患児94 人と保護者106人に質問紙調査と半構造化面接を行った。【結果】90％以上で服薬は規則正しく行われており，薬物治療に対する肯定的な評価は，患児・保護者で約80 ～ 90％と高かった。一方で，全面的に賛成しているわけではなく，約80％の保護者が否定的な意見も持っていた．否定的評価をする要因は，保護者は副作用を含めた長期的な影響への不安，患児は服薬の煩わしさや胃腸症状が多かった。定期的な薬物治療を続けているにも関わらず，効果と不安等を天秤にかけて治療を継続することへの積極的な支持は，患児・保護者で約50 ～ 60％であった。【結論】小児では，低年齢のため客観的に自身の状況を判断し，見通しをもって治療に参加することが難しい場合がある。患児へは胃腸症状への対処を，保護者へは治療の見通しや副作用について丁寧な説明を繰り返すことによって，薬物治療への否定的評価が軽減され，服薬アドヒアランスが向上する可能性がある。No potential conflict of interest relevant to this article was reported.岡山大学大学院教育学研究科Acta Medica Okayama1883-24231722019同性婚は日本で容認されるか？ : 他国の同性婚容認を参考に4956ENIoriOhmoriGraduate School of Education, Okayama UniversityAkariAMAKAWAFaculty of Education, Okayama University10.18926/bgeou/57564 日本において同性愛，異性愛等の性的指向に関わらず，全ての人が希望すれば婚姻に伴う幸福や利益を享受できる時代がくるかを問う。研究方法は，CiNii Articles とGoogle Scholarを利用して「同性婚」「憲法」等のキーワードで検索し，47 本の論文を検討した。同性婚が認められていない日本では，日本国憲法第24 条の「両性」の意味がどのように解釈されるか議論がなされている。同性婚が容認されている米国では，「人間の基本権」として認められてきた「婚姻の自由」が当事者の性的指向や性自認により否定されないという考えから容認された。スペインでは，同性婚が社会的に受け入れられていること等の考えより，容認されている。同性カップルが子どもを持つ時の子どもの不利益については，多くの研究が，子どもにとって大切なのは「親の性的指向」ではなく，「親の愛情」であると述べていた。画一的な家族のありようから離れ，多様な家族の幸せへの希求が始まっている。No potential conflict of interest relevant to this article was reported.BlackwellActa Medica Okayama0013-95804932007Rasmussen encephalitis associated with SCN1A mutation521526ENIoriOhmoriDepartments of Cellular Physiology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityMamoruOuchidaDepartments of Molecular Genetics, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityKatsuhiroKobayashiDepartments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityYoshimiJitsumoriTakushiInoueDepartments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityKenjiShimizuDepartments of Molecular Genetics, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityHidekiMatsuiDepartments of Cellular Physiology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityYokoOhtsukaDepartments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama UniversityYoshihiroMaegakiDivision of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN 1 A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN 1 A and then heterologously expressed in HEK293 cells along with the human beta1 and beta2 sodium channel accessory subunits. Whole-cell patch-clamp recording was used to define biophysical properties. The R1575C channels exhibited increased channel availability and an increased persistent sodium current in comparison to the wild-type. These defects of electrophysiological properties can result in neuronal hyperexitability. The seizure susceptibility allele may influence the pathogenesis of Rasmussen encephalitis in this case.No potential conflict of interest relevant to this article was reported.Elsevier ScienceActa Medica Okayama092012111051-22013Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures220224ENIoriOhmoriDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityKeiichiroHayashiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityHaijiaoWangDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityMamoruOuchidaDepartment of Molecular Genetics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityNaohiroFujitaDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityTakushiInoueDepartment of Child Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityHiroyukiMichiueDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityTeiichiNishikiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityHidekiMatsuiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University The aim of this study was to assess the anticonvulsant effect of carbon dioxide (CO2) on Scn1a mutation-related febrile seizures. We examined physiological changes in the blood gas levels after the induction of hyperthermia-induced seizures (HISs), which were associated with the Scn1a missense mutation. We determined the efficacy of inhalation of 5% or 10% CO2 to treat HISs. HISs were evoked in Scn1a mutant and wild-type (WT) rats by hot water baths. To determine the anticonvulsant effect of CO2 inhalation, rats were placed in a chamber filled with air or mixed gas containing 5% CO2 or 10% CO2 for 3 min, immediately after the induction of HISs. We also analyzed the blood gas levels at the end of inhalation of CO2. Hot water bathing induced a significant reduction in the partial pressure of CO2 (pCO2) and respiratory alkalosis in the WT and Scn1a mutant rats. HISs were evoked in 100% of the Scn1a mutant rats within 5 min, but in none of the WT rats. The Scn1a mutant rats demonstrated a higher HISs susceptibility associated with respiratory alkalosis than the WT rats. Inhalation of 10% CO2 shortened the seizure duration from 62.6±12.1 s to 15.5±1.0 s. Blood gas analysis after the inhalation of 10% CO2 demonstrated an elevated pCO2 level and respiratory acidosis. Inhalation of 10% CO2 demonstrated a potent and fast-acting anticonvulsant effect against HISs.No potential conflict of interest relevant to this article was reported.Academic PressActa Medica Okayama09699961502013CACNA1A variants may modify the epileptic phenotype of Dravet syndrome209217ENIoriOhmoriDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityMamoruOuchidaDepartment of Molecular Genetics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityKatsuhiroKobayashiYoshimiJitsumoriAkikoMoriDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityHiroyukiMichiueDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityTeiichiNishikiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityYokoOhtsukaHidekiMatsuiDepartment of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na(v)1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome. We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syndrome. To assess the effects of CACNA1A variants on the epileptic phenotypes of Dravet syndrome, we compared clinical features in two genotype groups: 1) subjects harboring SCN1A mutations but no CACNA1A variants (n=20) and 2) subjects with SCN1A mutations plus CACNA1A variants (n=20). CACNA1A variants detected in patients were studied using heterologous expression of recombinant human Ca(v)2.1 in HEK 293 cells and whole-cell patch-clamp recording. Nine CACNA1A variants, including six novel ones, were detected in 21 of the 48 subjects (43.8%). Based on the incidence of variants in healthy controls, most of the variants seemed to be common polymorphisms. However, the subjects harboring SCN1A mutations and CACNA1A variants had absence seizures more frequently than the patients with only SCN1A mutations (8/20 vs. 0/20, p=0.002). Moreover, the former group of subjects exhibited earlier onset of seizures and more frequent prolonged seizures before one year of age, compared to the latter group of subjects. The electrophysiological properties of four of the five novel Ca(v)2.1 variants exhibited biophysical changes consistent with gain-of-function. We conclude that CACNA1A variants in some persons with Dravet syndrome may modify the epileptic phenotypes.No potential conflict of interest relevant to this article was reported.兵庫教育大学大学院連合学校教育学研究科Acta Medica Okayama2433-1791202019性別違和をもつ患者の診療録から見える学校生活場面での困難さ3948ENOkayama University hospital Gender CenterOkayama University A school should be a place where every child can feel comfortable and safe. We aimed to shed light upon difficulties in school life in children with gender dysphoria (GD) and find a way to support them. We extracted the episodes in school life from the medical records of 59 patients with GD. They suffered from using gender segregated bookbags, school uniforms, swimming wears, and bathrooms. Sex education was not enough for them to understand GD. Children with male-to-female GD were bullied at school more often than those with female-to-male GD. Teachers should take note of children with GD, and should provide necessary supports in their school life, including the facilities and their relationships with their peers.No potential conflict of interest relevant to this article was reported.岡山大学大学院教育学研究科Acta Medica Okayama1883-24231712019成人期以降の性的マイノリティ当事者が学校生活を振り返って，学校教育に求めること3946ENArataSASAKIThe Joint Graduate School in Science of School Education (Doctor’s Course), Hyogo University of Teacher EducationYumiAMANOGraduate School of Education (Master’s Course), Okayama UniversityIoriOHMORIDivision of Developmental Studies and Support, Graduate School of Education, Okayama University10.18926/bgeou/56922 本研究の目的は，カミングアウトが難しい性的マイノリティ当事者が学校教育にどのような支援を望んでいるのか明らかにすることである。方法として質問紙調査を行った。質問紙作成にあたり，当事者への学校での支援について文献検索を行い，主に授業外で取り組む支援例を収集した。収集した支援例の評価を当事者18 名に依頼した。学校教育に求めていることは，相談してきた児童生徒の気持ちに寄り添うこと，第三者に知られないよう配慮すること，性の多様性と正しい知識を教えることであった。また，「開示しようとしまいと，いることを前提とする」学校になってほしいと希望していることが伺えた。教員は性的マイノリティの児童生徒が抱える困難さを重要な課題と捉え，いつでも誰でも相談できる環境づくりや，児童生徒の気持ちを尊重する努力が必要とされていると考える。No potential conflict of interest relevant to this article was reported.岡山大学教師教育開発センターActa Medica Okayama2186-132382018Trends in Research Concerning School Re-entry Support for Children with Chronic Illness181191ENRieMurakamiDivision of Special Education, Faculty of Education Okayama UniversityDivision of Special Education, Faculty of Education Okayama University10.18926/CTED/55817 The principle aim of the present study was to elucidate research trends and issues related to school re-entry. We reviewed past studies concerning school re-entry support for children with chronic illness. A total of 36 papers were analyzed for the keywords of "school re-entry," "support," "pediatric cancer," and "chronic illness." The results revealed that the concerns regarding the children and school re-entry support roles of legal guardians, healthcare providers, teachers, etc., and specific examples of collaboration with other occupations. "Guaranty a right to learn " and "relationship maintenance" were noted as issues, and ensuring a system that can establish certain learning opportunities even if the enrollment status of the child changes, continued maintenance of relationships of the patient before the onset of disease, and support to maintain the relationship of healthcare providers and teachers who are involved after onset of the disease are necessary even after school re-entry.No potential conflict of interest relevant to this article was reported.Public Library ScienceActa Medica Okayama1932-6203632011Expression of a Constitutively Active Calcineurin Encoded by an Intron-Retaining mRNA in Follicular KeratinocytesENAtsushiFujimuraHiroyukiMichiueTei-ichiNishikiIoriOhmoriFanyanWeiHidekiMatsuiKazuhitoTomizawaHair growth is a highly regulated cyclical process. Immunosuppressive immunophilin ligands such as cyclosporin A (CsA) and FK506 are known as potent hair growth modulatory agents in rodents and humans that induce active hair growth and inhibit hair follicle regression. The immunosuppressive effectiveness of these drugs has been generally attributed to inhibition of T cell activation through well-characterized pathways. Specifically, CsA and FK506 bind to intracellular proteins, principally cyclophilin A and FKBP12, respectively, and thereby inhibit the phosphatase calcineurin (Cn). The calcineurin (Cn)/NFAT pathway has an important, but poorly understood, role in the regulation of hair follicle development. Here we show that a novel-splicing variant of calcineurin A beta CnA beta-FK, which is encoded by an intron-retaining mRNA and is deficient in the autoinhibitory domain, is predominantly expressed in mature follicular keratinocytes but not in the proliferating keratinocytes of rodents. CnA beta-FK was weakly sensitive to Ca(2+) and dephosphorylated NFATc2 under low Ca(2+) levels in keratinocytes. Inhibition of Cn/NFAT induced hair growth in nude mice. Cyclin G2 was identified as a novel target of the Cn/NFATc2 pathway and its expression in follicular keratinocytes was reduced by inhibition of Cn/NFAT. Overexpression of cyclin G2 arrested the cell cycle in follicular keratinocytes in vitro and the Cn inhibitor, cyclosporin A, inhibited nuclear localization of NFATc2, resulting in decreased cyclin G2 expression in follicular keratinocytes of rats in vivo. We therefore suggest that the calcineurin/NFAT pathway has a unique regulatory role in hair follicle development.No potential conflict of interest relevant to this article was reported.Elsevier Ltd.Acta Medica Okayama0142-961233272012Combining poly-arginine with the hydrophobic counter-anion 4-(1-pyrenyl)-butyric acid for protein transduction in transdermal delivery64686475ENGerileCandanHiroyukiMichiueSanaeIshikawaAtsushiFujimuraKeiichiroHayashiAtsuhitoUnedaAkikoMoriIoriOhmoriTei-ichiNishikiHidekiMatsuiKazuhitoTomizawaTopical therapy is the most favored form of treatment for whitening against hyperpigmentation and sunburn because it lends itself to self-administration, patient compliance, and absence of systemic adverse effects. However, transdermal delivery of hydrophilic chemicals is difficult. The main purpose of this study is to develop a delivering system of hydrophilic drugs and proteins across the skin. Hydroquinone (HQ), a well-known tyrosinase inhibitor and antimelanogenesis compound, and enhanced green fluorescent protein (EGFP) were fused with eleven poly-arginine (11R). Both HQ-11R and EGFP-11R were efficiently delivered in B16 cells, a mouse melanoma cell line. HQ-11R was as effective as HQ alone at inhibiting melanin synthesis in B16 cells. EGFP-11R was efficiently delivered into cells of the epidermis with 4-(1-pyrenyl)-butyric acid (PB), a counteranion bearing an aromatic hydrophobic moiety, in vivo, but EGFP alone or EGFP-11R without PB was not. Finally, topical application of HQ-11R with PB significantly inhibited UV irradiation-induced pigmentation in guinea pigs compared with HQ alone. These results suggest that topical therapy using poly-arginine in combination with PB is useful for the delivery of hydrophilic drugs and proteins by the transdermal route.No potential conflict of interest relevant to this article was reported.岡山医学会Acta Medica Okayama0030-155812422012Scn1a遺伝子変異ラットを用いた抗てんかん薬の熱性けいれん抑制効果115117ENKeiichiroHayashiIoriOhmoriHidekiMatsuiNo potential conflict of interest relevant to this article was reported.Okayama University Medical SchoolActa Medica Okayama0386-300X6512011Regulation of Mitochondrial Dynamics and Neurodegenerative Diseases110ENXiao-JianHanKazuhitoTomizawaAtsushiFujimuraIoriOhmoriTei-ichiNishikiMasayukiMatsushitaHidekiMatsuiReview10.18926/AMO/43824Mitochondria are important cellular organelles in most metabolic processes and have a highly dynamic nature, undergoing frequent fission and fusion. The dynamic balance between fission and fusion plays critical roles in mitochondrial functions. In recent studies, several large GTPases have been identified as key molecular factors in mitochondrial fission and fusion. Moreover, the posttranslational modifications of these large GTPases, including phosphorylation, ubiquitination and SUMOylation, have been shown to be involved in the regulation of mitochondrial dynamics. Neurons are particularly sensitive and vulnerable to any abnormalities in mitochondrial dynamics, due to their large energy demand and long extended processes. Emerging evidences have thus indicated a strong linkage between mitochondria and neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease and Huntington's disease. In this review, we will describe the regulation of mitochondrial dynamics and its role in neurodegenerative diseases.No potential conflict of interest relevant to this article was reported.岡山医学会Acta Medica Okayama0030-155812132009Dravet 症候群患者に認められたカルシウムチャネル 機能異常を引き起こす CACNB4 遺伝子変異149156ENIoriOhmoriMamoruOuchidaNobuyoshiMimakiTeiichiNishikiKazuhitoTomizawaHidekiMatsuiNo potential conflict of interest relevant to this article was reported.岡山医学会Acta Medica Okayama0030-15581077-81995生後6ヵ月未満発症の局在関連性てんかんに関する研究99109ENIoriOhmoriTo clarify the characteristics of localization-related epilepsies occurring before 6 monthes of age, I carried out an electroclinical study on 28 cases which had been followed up for more than one year after the onset. The subjects were divided into two groups : the controlled group (8 cases) and the refractory group (20 cases). The controlled group was defined as the subjects whose seizures were suppressed within one year after the onset and the other subjects were classified into the refractory group. The characteristies of the refractory group were as follows : Most cases had serious underlying pathologies. The seizure type of most cases was simple partial seizure or complex partial seizure or complex partial seizure without secondary generalization. The inter-ictal EEG showed focal abnormalities and severe dysrrythmia on the basic pattern associated with mulitifocal spikes in most cases. Some cases developed West syndrome after localization-related epilepsies, and generalized seizures or pseudoabsences appeared later in some other cases.
In conclusion, a comprehensive assessment and an intensive follow-up of clinical and EEG manifestations are of great value for determining the prognosis localization-related epilepsies occurring in early infancy.No potential conflict of interest relevant to this article was reported.Acta Medica Okayama1995生後6ヵ月未満発症の局在関連性てんかんに関する研究ENNo potential conflict of interest relevant to this article was reported.