A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

Background: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented. Case presentation: Here, we report on the chromosomal microarray (CMA)-based identification of the first known case with concurrent interstitial duplication at 1q42.12-q42.2 and triplication at 1q42.2-q43 followed by isoUPD for the remainder of chromosome 1q (at 1q43-qter). In distal 1q duplication/triplication overlapping with 1q42.12-q43, variable clinical features have been reported, and our 25-year-old patient with MCA/ID presented with some of these frequently described features. Further analyses including the precise mapping of breakpoint junctions within the CGR in a sequence level suggested that the CGR found in association with isoUPD in our case is a triplication with flanking duplications, characterized as a triplication with a particularly long duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) structure. Because microhomology was observed in both junctions between the triplicated region and the flanking duplicated regions, our case provides supportive evidence for recently proposed replication-based mechanisms, such as MMBIR, underlying the formation of CGRs + isoUPD implicated in chromosomal disorders. Conclusions: To the best of our knowledge, this is the first case of CGRs + isoUPD observed in 1q and having DUP-TRP/INV-DUP structure with a long proximal duplication, which supports MMBIR-based model for genomic rearrangements. Molecular cytogenetic analyses using CMA containing single-nucleotide polymorphism probes with further analyses of the breakpoint junctions are recommended in cases suspected of having complex chromosomal abnormalities based on discrepancies between clinical and conventional cytogenetic findings

Lorazepam as a Cause of Drug-Induced Liver Injury

Lorazepam is a benzodiazepine derivative that is globally used for the therapy of anxiety and insomnia. A 51-year-old Japanese man with yellowish discoloration of the eyes and skin and pruritus was admitted due to liver dysfunction. He had taken lorazepam approximately 5 months prior to this admission. The clinical presentation and pathologic findings in the liver were consistent with drug-induced liver injury. After cessation of lorazepam, treatment with Stronger neo-minophagen C and ursodeoxycholic acid was started, and his liver injury resolved after 59 days. This case must serve as a warning to physicians to be aware of the possibility of unexpected liver injury caused by lorazepam

A preliminary study of suppression of candida infection by miconazole mucoadhesive tablets in oral or oropharyngeal cancer patients undergoing radiotherapy

Elevated numbers of candida in the oral cavity often lead to oral candidiasis development in patients undergoing radiotherapy for oral or oropharyngeal cancer. This study aimed to verify the efect of iconazole mucoadhesive tablets on suppression of oral candida infection during radiotherapy. For this preliminary interventional study, miconazole mucoadhesive tablets were attached to the oral mucosa for 14 days from when grade 2 oral mucositis appeared in patients with oral or oropharyngeal cancer receiving radiotherapy, and the incidence of oral candidiasis was investigated. Various clinical factors were examined; univariate and multivariate Cox regression analyses were performed to investigate and compare the efcacy of this drug in preventing oral candidiasis with results of our previous study as historical control. Miconazole mucoadhesive tablets were administered to 18 patients, and oral candidiasis was observed in one patient (5.6%) after treatment completion. Among 144 historical control patients, 43 (29.9%) developed oral candidiasis. Multivariate Cox regression showed that miconazole mucoadhesive tablets signifcantly reduced oral candidiasis development during radiotherapy (p= 0.049, Hazard ratio 0.136, 95% confdence interval 0.019–0.994). This preliminary study suggests the efcacy of miconazole mucoadhesive tablets in preventing oral candidiasis in oral or oropharyngeal cancer patients treated with radiotherapy

Preventive effects of betamethasone valerate ointment for radiation-induced severe oral mucositis in patients with oral or oropharyngeal cancer: protocol for a multicentre, phase II, randomised controlled trial (Bet-ROM study)

Introduction: This is a randomised, multi-centre, open-label, phase II study to evaluate the efficacy of betamethasone valerate ointment on radiation-induced oral mucositis in patients with head and neck cancer undergoing concomitant radiotherapy with cisplatin or cetuximab.Methods and analysis: The trial will take place at seven hospitals in Japan. Patients will be randomised (1:1) into betamethasone and control groups after the occurrence of grade 1 oral mucositis. In the betamethasone group, patients will use betamethasone valerate ointment five times a day, in addition to usual oral hygiene guidance. The primary endpoint is the incidence and onset time of grade 3 oral mucositis. The secondary endpoints are the incidence and onset time of grade 2 oral mucositis, incidence and onset time of oral candidiasis, completion of radiation therapy and adverse events. Target accrual is 102 patients with a two-sided type I error rate of 5% and 80% power to detect an 80% risk reduction in the incidence of grade 3 oral mucositis.Ethics and dissemination: This study was approved by the Clinical Research Review Board of Nagasaki University (No. CRB20-009). All participants will be required to provide written informed consent. Findings will be disseminated through scientific and professional conferences and peer-reviewed journal publication. The datasets generated during the study will be available from the corresponding author on reasonable request.Trial registration number: jRCTs071200013

Electronically modified single wall carbon nanohorns with iodine adsorption

Tailoring electronic properties of single wall carbon nanohorn (SWCNH) is expected to develop the application potential in various fields. SWCNH is efficiently modified with iodine molecules by liquid phase adsorption. The adsorption isotherm of iodine on SWCNH was Langmuirian with the saturated adsorption amount of 185 +/- 10 mg g (1) (coverage 0.18), indicating a specific interaction between SWCNH and iodine. The DC electrical conductivity of SWCNH film prepared by dip-coating method increased with the iodine adsorption amount almost by a factor 10.ArticleCHEMICAL PHYSICS LETTERS. 501(4-6):485-490 (2011)journal articl

女子学生の保健行動と健康に関する調査(調査報告,人文・社会科学篇)

本学女子学生を対象に,保健行動と健康への意識等について質問紙調査を実施し,保健行動の実態を知るとともに,その背景となっている生活要因について分析した。(1)毎日,通学に3時間以上を費やす学生が約2割みられた。健康状態に特に問題となる特徴はなかったが,生活時間の配分などについて相談する機会を設ける等,追跡調査をする必要がある。(2)睡眠時間が短い人の特徴は,自宅からの通学者,通学に長時間要する人,起床時刻が早い人,就寝時刻が遅い人,自炊をしていない人,健康に関心のある人である。(3)就寝時刻が午前2時を過ぎる者が約1割いる。就寝時刻が遅いほど睡眠時間が短くなる傾向があり睡眠不足を招く。また,概して,朝食を抜く傾向もあり健康を維持する上で問題となる。(4)食事が不規則な者は約3割,朝食を「毎日食べないときもある」者は約3人に1人の割合である。健康に関心のない者,アパート等に居住する者に朝食を抜く割合が高い。(5)食事バランス尺度が低かった者の特徴は,アパート等に居住する者,就寝時刻が遅い者,健康に関心のない者などであった。寮生,専攻科生は高かった。(6)ダイエットは,半数が経験していた。その情報源は,雑誌や本,友人からの話が殆どで,誤った方法によることも危惧される。そのためか,約2割の者がダイエット実施後に体調に何らかの弊害があったと回答している。(7)月経痛について,約半数の者が「ひどい」と回答している。その対応としては,「我慢する」が6割弱である。計画的総合的な予防対策が必要であると思われる。(8)アレルギー性疾患は,約3割の者が有しており,殆どが結膜炎,鼻炎を伴った花粉症である。(9)AIDSに関して,漠然とは心配しているが,予防行動への意志が明確でなかったり,学習への意欲が少ないなど,「自分の問題」としては認識していない。(10)以上のことから,保健室,保健管理室の指導・相談の内容として,睡眠時間,食事のバランス,ダイエットの仕方,月経痛の対策,アレルギー対策,AIDSへの理解等があげられる。(9)指導・相談を特に要する対象としては,アパート等から通学する学生があげられる

Real-time 3D Photoacoustic Visualization System with a Wide Field of View for Imaging Human Limbs [version 2; referees: 2 approved]

Background: A breast-specific photoacoustic imaging (PAI) system prototype equipped with a hemispherical detector array (HDA) has been reported as a promising system configuration for providing high morphological reproducibility for vascular structures in living bodies. Methods: To image the vasculature of human limbs, a newly designed PAI system prototype (PAI-05) with an HDA with a higher density sensor arrangement was developed. The basic device configuration mimicked that of a previously reported breast-specific PAI system. A new imaging table and a holding tray for imaging a subject's limb were adopted. Results: The device’s performance was verified using a phantom. Contrast of 8.5 was obtained at a depth of 2 cm, and the viewing angle reached up to 70 degrees, showing sufficient performance for limb imaging. An arbitrary wavelength was set, and a reasonable PA signal intensity dependent on the wavelength was obtained. To prove the concept of imaging human limbs, various parts of the subject were scanned. High-quality still images of a living human with a wider size than that previously reported were obtained by scanning within the horizontal plane and averaging the images. The maximum field of view (FOV) was 270 mm × 180 mm. Even in movie mode, one-shot 3D volumetric data were obtained in an FOV range of 20 mm in diameter, which is larger than values in previous reports. By continuously acquiring these images, we were able to produce motion pictures. Conclusion: We developed a PAI prototype system equipped with an HDA suitable for imaging limbs. As a result, the subject could be scanned over a wide range while in a more comfortable position, and high-quality still images and motion pictures could be obtained

〈全文〉 テキストにおける語彙の分布と文章構造 成果報告書

国立国語研究所国立情報学研究所日本女子大学統計数理研究所(独)国際交流基金お茶の水女子大学北海道教育大学統計数理研究所慶応義塾大学National Institute for Japanese and LinguisticsNational Institute of InformaticsThe Institute of Statistical MathematicsThe Institute of Statistical Mathematic