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Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
Hitomi Yatsuki,Ken Higashimoto,Kosuke Jozaki,Kayoko Koide,Junichiro Okada,Yoriko Watanabe,Nobuhiko Okamoto,Yoshinobu Tsuno,Yoko Yoshida,Kazutoshi Ueda,Kenji Shimizu,Hirofumi Ohashi,Tsunehiro Mukai,Hid 한국유전학회 2013 Genes & Genomics Vol.35 No.2
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor features. BWS is caused by several genetic/epigenetic alterations, such as loss of methylation at KvDMR1,gain of methylation at H19-DMR, paternal uniparental disomy of chromosome 11, CDKN1C mutations, and structural abnormalities of chromosome 11. CDKN1C is an imprinted gene with maternal preferential expression, encoding for a cyclin-dependent kinase (CDK) inhibitor. Mutations in CDKN1C are found in 40 % of familial BWS cases with dominant maternal transmission and in *5 % of sporadic cases. In this study, we searched for CDKN1C mutations in 37BWS cases that had no evidence for other alterations. We found five mutations—four novel and one known—from a total of six patients. Four were maternally inherited and one was a de novo mutation. Two frame-shift mutations and one nonsense mutation abolished the QT domain, containing a PCNA-binding domain and a nuclear localization signal. Two missense mutations occurred in the CDK inhibitory domain,diminishing its inhibitory function. The above-mentioned mutations were predicted by in silico analysis to lead to loss of function; therefore, we strongly suspect that such anomalies are causative in the etiology of BWS.
Hitomi Suzuki,Koichiro Matsuo Asia Association for Disability and Oral Health 2020 대한장애인치과학회지 Vol.16 No.1
Introduction: Recently, everolimus has been used as a treatment for subependymal giant cell astrocytomas and renal angiomyolipoma in patients with tuberous sclerosis. Oral everolimus application often causes oral mucositis. However, dentists and dental hygienists do not yet fully understand the adverse events and how to deal with them. This report aimed to describe the successful oral health management of a tuberous sclerosis complex (TSC) patient with oral mucositis under everolimus. Case presentation: A 26-year-old man with TSC was referred by a urologist to our dental outpatient clinic for oral examination before commencing oral everolimus for the treatment of renal angiomyolipoma. Other TSC comorbidities included subependymal giant cell astrocytomas, epilepsy, and severe mental retardation. His oral condition was poor since he had not visited a dental office for an extended time due to extremely uncooperative behavior. Periodontal and caries treatments were carried out under behavior management techniques and immobilization by his mother and dental staff. Proper management of oral mucositis and oral care procedures were also instructed to the mother. His oral hygiene status improved and multiple oral mucositis lesions by everolimus did not deteriorate to cause infection or delayed healing. Conclusion: To prevent the deterioration of oral hygiene and oral mucositis by medication, dental professionals should be involved in a team-based approach to TSC treatment.
Hitomi HAMADA,Yoko SAITO 한국펄프·종이공학회 1999 한국펄프종이학회 기타 간행물 Vol.- No.-
With a view to seek the influence of hollow sphere pigments of latex upon the printed color on coated paper surface, the hollow sphere pigments were compared with filled ones in a variety of experimental approaches.<br/> Colloidal properties of latices were determined by measuring zeta potential and particle size distribution. For the amphoteric filled sphere pigment of latex, the polarity was reversed from the negative side to the positive side with decreasing pH. An extraordinarily high peak in the particle size distribution of the amphoteric filled evidenced aggregation between latex particles near the isoelectric point, depending on the electrolyte concentration and pH of the suspending medium.<br/> Coated papers containing the hollow sphere pigment in their coating improved optical properties like gloss and brightness. Optical parameters solely of the coating could account for this finding. An equation derived from the<br/> Kubelka-Munk equation calculated them /Tom twice measurements of reflectance of a coated paper over two substrates of different reflectances. This method permitted to predict brightness of coated paper of which coat weight would be different from the actual one.<br/> The colorimetric parameters of solid-printed surfaces of the coated papers closely related to optical and structural properties of the coated papers. The color of the printed surfaces was dominated by the brightness and the smoothness of the coated papers.<br/> The hollow sphere pigments were proved to improve optical properties of coated paper and to control minutely colorimetric parameters of printed surfaces.
Expressing Ignorance in Japanese: Contrastive wa versus sukunakutomo
( Hitomi Hirayama ),( Adrian Brasoveanu ) 서울대학교 인지과학연구소 2018 Journal of Cognitive Science Vol.19 No.3
In a series of three experiments, we investigate ignorance inferences triggered by two numeral modifiers in Japanese, contrastive wa and sukunakutomo ‘at least’. Experiment 1 (self-paced reading followed by acceptability judgments) investigates how Questions under Discussion (QuDs) affect ignorance inferences and shows that wa is QuD sensitive, while sukunakutomo is not. Given the results, we hypothesize that there is a competition between the two ways of expressing ignorance: sukunakutomo unambiguously encodes ignorance and is therefore preferred when the speaker wants to express uncertainty. In contrast, wa simply requires the presence of alternatives to the at-issue content, which are possible as far as the speaker is concerned. These alternatives can be about numbers, which trigger ignorance inferences, but need not be. Experiments 2 and 3 are forced binary choice tasks. Experiment 2 investigated how sensitive people are to ignorance of the speaker or contextual contrast when they are given a choice between wa and ga. Experiment 3 compared wa and sukunakutomo and supported the competition hypothesis. Specifically, Experiment 3 shows that sukunakutomo is preferred when the speaker is ignorant, while wa is preferred when the speaker is knowledgeable, and there is a contextually salient contrast that wa picks up on.
TORANOMON HILLS - Super High-Rise Building on Urban Highway -
Hitomi, Yasuyoshi,Takahashi, Hiroshi,Karasaki, Hidenori Council on Tall Building and Urban Habitat Korea 2014 International journal of high-rise buildings Vol.3 No.3
TORANOMON HILLS is the main building of a large-scale re-development project located in the center of Tokyo. This high-rise building has a height of 247 m and 52 floors above ground, 5 floors below ground, and $62m{\times}80m$ in plan. It is used as hotel, residential facilities, offices, shops and conference facilities. The super structure is mainly a rigid steel frame with response-control devices, using concrete-filled steel tube columns. The underground section is a mixed structure composed of steel, steel-reinforced concrete and reinforced concrete framings. The piled-raft foundation type is used. The remarkable feature of this high-rise building is that the motorway runs through the basements of the building, which makes it stand just above the motorway. This condition is an important factor of the building design. The plan shape is designed to fit along the curve of the motorway. Special columns at the corners are required to avoid placing columns in the motorway. This special column is a single inclined column in the lower floors that branches into two columns in the mid-floors to suit the column location in the upper floors. The cast steel joint is used for the branching point of each special column to securely transfer the stress.