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Hoover-Fong, J.,Sobreira, N.,Jurgens, J.,Modaff, P.,Blout, C.,Moser, A.,Kim, O.H.,Cho, T.J.,Cho, S.,Kim, S.,Jin, D.K.,Kitoh, H.,Park, W.Y.,Ling, H.,Hetrick, Kurt N.,Doheny, Kimberly F.,Valle, D.,Pauli University of Chicago Press [etc.] 2014 American journal of human genetics Vol.94 No.1
Spondylometaphyseal dysplasias (SMD) constitute a rare group of bone disorders. Two members of the SMD group have distinctive ophthalmologic manifestations: SMD with cone-rod dystrophy (SMD-CRD; MIM 608940) and axial SMD with retinal degeneration (MIM 602271). Additional features of SMD-CRD include rhizomelia, lower extremity bowing, evolving anterior vertebral protrusions, metaphyseal cupping, and progressive visual impairment with pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Affected siblings have been described, thus suggesting autosomal recessive inheritance. Here eight individuals from 6 unrelated families with SMD-CRD were submitted to the Baylor-Hopkins Center for Mendelian Genomics (BHCMG). Patients 1, 2, 4-6 (Walters et al, 2004) and 7 (Kitoh et al, 2011) were described previously. Patient 8 has not reached final adult height, but is short for his age (Z=-7.6) with lower extremity bowing and diagnosis of retinal dystrophy affecting both cones and rods made at age 45 months. Using WES and targeted Sanger sequencing, we found 8 rare PCYT1A variants (1 nonsense, 1 frame shifting indel, and 6 missense variants) present either in the homozygous or compound heterozygous state in all 8 individuals. PCYT1A encodes the alpha isoform of an enzyme known as CTP (phosphocholine cytidylytransferase), essential for phosphotidylcholine synthesis. Mutations in genes involved in fatty acid metabolism have been implicated in other dysplasias (e.g. RCDP and Conradi-Hunermann), as well as retinal disease where there are deficient or abnormal fatty acids (e.g. eicosapentanoic and docosahexanoic acid). Further examination of phospholipid metabolism may lead to the genetic etiology of other SMDs, particularly those with ocular manifestations.
Photopatch Tests of recent three years at Kyoto University Hospital
Katoh, Mayumi,Kitoh, Akihiko,Otoshi, Eriko,Arima, Yaeno,Nishigori, Chikako,Miyachi, Yoshiki Korean Society of Photoscience 2002 Journal of Photosciences Vol.9 No.2
We experienced 29 cases of tentative photo allergic disorders from April 2000 to March 2002. For those 29 patients, photopatch tests have been done to explore possible causative photoallergens. We performed photopatch tests with photo-related allergens and possible causative products that the patients brought to us. After applications for 48hrs, one test site was irradiated with half of MRD or 6.0 J/cm$^2$ of UVA. Readings were evaluated according to the reading criteria of the ICDRG. Photoallergens were suggested in 20 cases (69.0%). Among them, we could find out the causative products in 7 cases (24.1%). Photopatch tests, performed by an appropriate method, are useful in some cases not only for diagnosis of photocontact dermatitis but also diagnosis of systemic photoallergic disorders.
Concrete filled double skin tubular members subjected to bending
Kojiro Uenaka,Hiroaki Kitoh,Keiichiro Sonoda 국제구조공학회 2008 Steel and Composite Structures, An International J Vol.8 No.4
A concrete filled double skin tubular (called CFDST in abbreviation) member consists of two concentric circular steel tubes and filled concrete between them. Purpose of this study is to investigate their bending characteristics experimentally. The two test parameters of the tubes considered were an inner-to-outer diameter ratio and a thickness-diameter ratio. As a result, their observed failure modes were controlled by tensile cracking or local buckling of the outer tube. Discussion is focused on the confinement effect on the filled concrete due to the both tubes and also the influence of the inner-to-outer diameter ratios on their deformability and load carrying capacity.