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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.
Jakhongir F. Alidjanov,Andre Overesch,Dimitri Abramov-Sommariva,Martina Hoeller,Hubert Steindl,Florian M. Wagenlehner,Kurt G. Naber 대한비뇨의학회 2020 Investigative and Clinical Urology Vol.61 No.5
Purpose: The Acute Cystitis Symptom Score (ACSS) used in a clinical trial comparing the phytodrug Canephron®N (BNO 1045) with an antibacterial agent (fosfomycin trometamol [FT]) in the treatment of acute uncomplicated cystitis (AC) in women was evaluated as a patient-reported outcome measure in a post hoc analysis. Materials and Methods: This double-blind, randomized, multicenter, phase III noninferiority trial was performed in 51 centers in Europe. The ACSS questionnaire was used to assess severity and course of symptoms. Results: The post hoc analysis included 325 patients treated with BNO 1045 and 332 patients treated with FT (total of 657 patients). The mean sum-scores of the ACSS-typical domain were comparable between groups on day 1 (BNO 1045: 10.2; FT: 10.1), and then decreased on day 4 (BNO 1045: 5.1; FT: 4.5), at end of treatment on day 8 (BNO 1045: 2.1; FT: 2.1), and at late follow-up on day 38 (BNO 1045: 0.8; FT: 0.9). Predefined thresholds using the scoring system of the ACSS could be established and validated to define “clinical cure.”Conclusions: Evaluating not only antibacterial but also nonantibacterial agents indicated for the treatment of AC in women, clinical criteria for diagnostics, and measures of patient-reported outcomes are more important as main objectives than microbiological criteria. In this post hoc evaluation, we showed that the ACSS questionnaire, validated in several languages, has the potential to be used as a suitable instrument for diagnostics and patient-reported outcomes in well-designed, international, clinical studies investigating different treatment modalities of uncomplicated urinary tract infections.
E. Altin,F. Kurt,S. Altin,M.E. Yakinci,Z.D. Yakinci 한국물리학회 2014 Current Applied Physics Vol.14 No.3
Superconducting MgB2 thin films with different thicknesses were fabricated by excess Mg using sequential electron beam evaporation technique. The flux rate of Mg and B were chosen as 3 nm/sn and 0.5 nm/sn respectively. The thickness of Mg/B layer was determined as 3/1 which causes an excess Mg for MgB2 formation. After two-step preparation process, the superconducting transition temperatures were found in the range of 32e37 K with a sharp transition to zero resistance state. The irreversibility fields, upper critical fields and activation energies were derived from magneto resistivity curves. The transport critical current densities of films were determined from IeV characteristics under different applied fields and the data was extrapolated for determination of value of the 0 K.
Translation and validation of the Korean version of acute cystitis symptom score
최진봉,조강준,한규헌,Jakhongir F. Alidjanov,Adrian M. E. Pilatz,Florian M. E. Wagenlehner,Kurt G. Naber,최현섭,이승주 대한비뇨의학회 2022 Investigative and Clinical Urology Vol.63 No.2
Purpose: Acute Cystitis Symptom Score (ACSS) is a simple self-reporting questionnaire initially developed in Uzbek language to help diagnose acute uncomplicated cystitis (AUC). The purpose of this study was to translate the ACSS to Korean and validate the Korean version of ACSS using Korean-speaking women. Materials and Methods: The original version of ACSS in Uzbek was translated into the target (Korean) version according to internationally accepted guidelines for the translation and cultural adaptation. Cognitive interviews were then conducted for five women with symptoms of AUC and five women without AUC who were native speakers of the Korean language to investigate the clarity, understandability, and acceptability of the translation. The final Korean version of the ACSS was tested in 50 women (31 AUC patients and 19 controls) for clinical validation. Results: Reliability test for 9 questions (6 questions about typical symptoms of AUC, and 3 questions on quality of life) showed high values (Cronbach’s alpha=0.853). The sum score of typical symptoms showed the highest balance for diagnostic sensitivity and specificity (area under the ROC curve=0.935). Sensitivity and specificity to predict AUC were 90.3% and 89.5% at cut-off score 6 of the typical domain. Conclusions: The Korean version of the ACSS showed high levels of reliability and validity, similar to other validated versions in different languages. It will play an important role in practice and/or clinical research for diagnosis and treatment efficacy monitoring of Korean-speaking women suffering from AUC.