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RISS 인기검색어
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- 저자 : Tang Zhichao (검색결과 3 건)
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Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
Liu Mingjie,Wan Linlin,Wang Chunrong,Yuan Hongyu,Peng Yun,Wan Na,Tang Zhichao,Yuan Xinrong,Chen Daji,Long Zhe,Shi Yuting,Qiu Rong,Tang Beisha,Tang Beisha,Chen Zhao 한국유전학회 2022 Genes & Genomics Vol.44 No.9
Background: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. Heterozygous variants of different BAF complex-related genes were reported to cause CSS, including ARID1A and SMARCA4. So far, no CSS patients with ARID1A and SMARCA4 variants have been reported in China. Objective: The aim of the current study was to identify the causes of two Chinese patients with congenital growth deficiency and intellectual disability. Methods: Genomic DNA was extracted from the peripheral venous blood of patients and their family members. Genetic analysis included whole-exome and Sanger sequencing. Pathogenicity assessments of variants were performed according to the guideline of the American College of Medical Genetics and Genomics. The phenotypic characteristics of all CSS subtypes were summarized through literature review. Results: We identified two Chinese CSS patients carrying novel variants of ARID1A and SMARCA4 respectively. The cases presented most core symptoms of CSS except for the digits involvement. Additionally, we performed a review of the phenotypic characteristics in CSS, highlighting phenotypic varieties and related potential causes. Conclusions: We reported the first Chinese CSS2 and CSS4 patients with novel variants of ARID1A and SMARCA4. Our study expanded the genetic and phenotypic spectrum of CSS, providing a comprehensive overview of genotype-phenotype correlations of CSS.
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Huixi Li,Zhichao Zhang,Jing Peng,Zhongcheng Xin,Meng Li,Bicheng Yang,Dong Fang,Yuan Tang,Yinglu Guo 대한비뇨의학회 2019 Investigative and Clinical Urology Vol.60 No.5
Purpose: To investigate whether treatment with low-energy shock wave (LESW) alleviates pain and bladder dysfunction in a mouse model of uroplakin 3A (UPK3A)-induced interstitial cystitis/painful bladder syndrome (IC/PBS). Materials and Methods: Forty female BALB/c mice were divided into four groups (n=10/group): Sham, Sham+LESW, UPK3A, and UPK3A+LESW. At 6 weeks of age, mice were injected with an emulsion containing water and complete Freund's adjuvant with (UPK3A and UPK3A+LESW groups) or without (Sham and Sham+LESW groups) 200 µg of UPK3A. At 10 weeks, mice received a second dose of Freund's adjuvant to booster immunization. At 12 weeks, mice underwent pain assessment and a frequency volume chart (FVC) test as the pretreatment assessment. LESW treatment and pain assessment were conducted from 13 to 15 weeks. One week after the final treatment, pain assessment and the FVC were conducted again as the post-treatment assessment. Mice were euthanized and sacrificed at 17 weeks. Results: The presence of tactile allodynia and bladder dysfunction was significant in the UPK3A-injected mice. LESW raised the pain threshold and improved bladder function with decreased urinary frequency and increased mean urine output. Expression and secretion of local and systemic inflammatory markers, including tumor necrosis factor-α (TNF-α) and nerve growth factor (NGF), increased after UPK3A immunization. These markers were significantly decreased after LESW treatment (p<0.05). Conclusions: LESW treatment attenuated pain and bladder dysfunction in a UPK3A-induced model of IC/PBS. Local and systemic inflammation was partially controlled, with a reduced number of infiltrated inflammatory cells and reduced levels of TNF-α and NGF.
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Zhen Zhou,Zhichao Wu,Zhiwei Wang,Shujuan Tang,Guowei Gu,Luochun Wang,Yingjun Wang,Zhiling Xin 한국화학공학회 2011 Korean Journal of Chemical Engineering Vol.28 No.5
As a modified configuration of the conventional anaerobic/anoxic/aerobic (AAO) process, a novel anoxic/anaerobic/aerobic (Reversed AAO, RAAO) process has been extensively applied in domestic wastewater treatment plants (WWTP). In this study, the Activated Sludge Model No. 2d (ASM2d) and a secondary clarifier model were calibrated and applied to simulate a pilot-scale RAAO test and evaluate the operational performance of the RAAO process. For calibration of the biological model ASM2d, only four kinetic parameters were adjusted to accurately simulate in-process variations of ammonium, nitrate and phosphate. Simulation results by the calibrated model demonstrated that phosphorus accumulating organisms (PAO) in the RAAO process (0.243 gP·(gCOD)^−1) contains less poly-phosphate than the AAO process (0.266 gP·(gCOD)^−1). With the increasing mixed liquor recirculation ratio in the RAAO process,the fraction of heterotrophic biomass and autotrophic biomass both increased, whereas the PAO decreased owing to adverse effects of electron acceptors on phosphorus release and poly-hydroxy-alkanoates synthesis.
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