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TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Zhang Hai-Yang,Wu Feng-Yao,Li Xue-Song,Tu Ping-Hui,Zhang Cao-Xu,Yang Rui-Meng,Cui Ren-Jie,Wu Chen-Yang,Fang Ya,Yang Liu,Song Huai-Dong,Zhao Shuang-Xia 대한진단검사의학회 2024 Annals of Laboratory Medicine Vol.44 No.4
Background: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes. Methods: In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity. Results: Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants. Conclusions: We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.
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Chemically Modified Sepharose as Support for the Immobilization of Cholesterol Oxidase
( Hai Lin Yang ),( Yi Chen ),( Yu Xin ),( Ling Zhang ),( Yu Ran Zhang ),( Wu Wang ) 한국미생물 · 생명공학회 2013 Journal of microbiology and biotechnology Vol.23 No.9
Because the cholesterol oxidase from Brevibacterium sp. M201008 was not as stable as the free enzyme form, it had been covalently immobilized onto chemically modified Sepharose particles via N-ethyl-N`-3-dimethylaminopropyl carbodiimide. The optimum immobilization conditions were determined, and the immobilized enzyme activity obtained was 12.01 U/g Sepharose-ethylenediamine. The immobilization of the enzyme was characterized by Fourier transform infrared spectroscopy. The immobilized enzyme exhibited the maximal activity at 35oC and pH 7.5, which was unchanged compared with the free form. After being repeatedly used 20 times, the immobilized enzyme retained more than 40.43% of its original activity. The immobilized enzyme showed better operational stability, including wider thermal and pH ranges, and retained 62.87% activity after 20 days of storage at 4oC, which was longer than the free enzyme.
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( Tian Yang ),( Hai-su Dai ),( Lei Liang ),( Cheng-cheng Zhang ),( Zhang-jun Cheng ),( Yong-hai Peng ),( Yao-ming Zhang ),( Zhi-yu Chen ) 대한간학회 2020 춘·추계 학술대회 (KASL) Vol.2020 No.1
Aims: Iatrogenic biliary injury (IBI) following laparoscopic cholecystectomy (LC) is the most common and recognized iatrogenic complications. Little is known whether LC-IBI would lead to surgeon’s mental distress. This study reports the incidence of surgeon’s mental distress who have caused LC-IBI and risk factors of surgeon’s severe mental distress (SMD). Methods: A cross-sectional survey in the form of electronic questionnaire was conducted among Chinese general surgeons who have caused LC-IBI. The six collected clinical features relating to mental distress included: 1) feeling burnout, anxiety, or depression, 2) avoiding performing LC, 3) having physical reactions when recalling the incidence, 4) having the urge to quit surgery, 5) taking psychiatric medications, and 6) seeking professional psychological counseling. Univariable and multivariable analyses were performed to identify risk factors of SMD, which was defined as meeting ≥3 of the above-mentioned clinical features. Results: Among 1,466 surveyed surgeons, 1,236(84.3%) experienced mental distress following LC-IBI, and nearly half (49.7%, 614/1236) had SMD. Multivariable analyses demonstrated that surgeons from non-university affiliated hospitals (OR:1.873), patients who required multiple repair operations (OR:4.075), patients who required hepaticojejunostomy/partial hepatectomy (OR:1.859), existing lawsuit litigation (OR:10.491), existing violent doctor-patient conflicts (OR:4.995), needing surgeons’ personal compensation (OR:2.531), and additional administrative punishment by hospitals (OR:2.324) were independent risk factors of surgeon’s SMD. Conclusions: Four out of five surgeons experienced mental distress following LC-IBI, and nearly half had SMD. Several independent risk factors of SMD were identified, which could help to make strategies to improve mental well-being of these surgeons.
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Zhi-Hai Ni,Xian-Jun Liang,Jing-Gang Mo,Yi Zhang,Jian-Hua Liang,Yu-Sha Yang,Yong Zhou,Zhao-Hua Li,Jian-Liang Zhang,Yin-Lu Ding,Peng Zhang,Jin-Qing Wang 한국유전학회 2015 Genes & Genomics Vol.37 No.11
We aim to investigate the correlations of hypoxia inducible factor-1a (HIF-1a) C1772T (rs11549465) and G1790A (rs11549467) gene polymorphisms with digestive tract cancers. A sum of 267 digestive tract cancers patients were hospitalized in Taizhou Central Hospital of Zhejiang Province as case group between December 2012 and December 2014. Additionally, 275 healthy people who had a physical examination in our hospital at the same time were selected as control group. Polymerase chain reaction-restriction fragment length polymorphism was utilized for detecting allele and genotype frequency of different locus in case and control group. Meta-analysis was performed using Comprehensive Metaanalysis 2.0 (Biostat Inc., Englewood, New Jersey, USA). Our result showed statistical significance only exists in family history of cancer between case and control group (P\0.05). Both C1772T (rs11549465) and G1790A (rs11549467) polymorphisms showed positive correlations with an increasing risk of digestive tract cancers. The frequencies of TT genotype of C1772T (rs11549465) and GA, AA genotypes of G1790A (rs11549467) polymorphisms in case group were evidently higher compared with the controls (all P\0.05). Besides, the comparison of allele and dominant models of HIF-1a C1772T (rs11549465) and G1790A (rs11549467) between two groups showed a significant difference (all P\0.05). Meta-analysis results further confirmed that the onset risk of digestive tract cancers may be improved under allele and dominant models of HIF-1a C1772T (rs11549465) and G1790A (rs11549467) (all P\0.05). Single nucleotide polymorphisms of HIF-1a C1772T (rs11549465) and G1790A (rs11549467) may play a role in development of digestive tract cancers.
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( Rong Zhang ),( Yong Cui ),( Xi Zhang ),( Zhuo Yang ),( Yong Shan Zhao ),( Yong Bo Song ),( Chun Fu Wu ),( Jing Hai Zhang ) 생화학분자생물학회 (구 한국생화학분자생물학회) 2010 BMB Reports Vol.43 No.12
The existence of glycine residues in long-chain scorpion toxins has been well documented. However, their role as analgesics has not been evaluated. To address this issue, we investigated the functional role of glycines in the C-terminal end of Chinese-scorpion toxin from Buthus martensii Karsch (BmK AGP-SYPU2) using site-directed mutagenesis and analgesic activity assays. Recombinant BmK AGP-SYPU2 and its mutants were efficiently expressed in E. coli and purified to homogeneity using immobilized metal ion affinity chromatography (IMAC) and cation exchange chromatography. The mouse-twisting test was used to detect the analgesic activity of BmK AGP-SYPU2 and its mutants. As a result, we identified glycines at the C-terminal end that, when altered, significantly affected analgesic activity. Also, Mut6566 was significantly decreased compared to BmK AGP-SYPU2. These data indicate that the glycines at the C-terminal end are important for the analgesic activity of BmK AGP-SYPU2. [BMB reports 2010; 43(12): 801-806]
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Zhang, Qian,Gao, Yang,Zhang, Hai-xia,Xu, Fei,Li, Feng Techno-Press 2018 Structural monitoring and maintenance Vol.5 No.1
The stability of cutting slope influences the safety of railway operation, and how to identify the stability of the slope quickly and determine the rational monitoring plan is a pressing problem at present. In this study, the attribute recognition model of risk assessment for high cutting slope stability in the heavy haul railway is established based on attribute mathematics theory, followed by the consequent monitoring scheme design. Firstly, based on comprehensive analysis on the risk factors of heavy haul railway loess slope, collapsibility, tectonic feature, slope shape, rainfall, vegetation conditions, train speed are selected as the indexes of the risk assessment, and the grading criteria of each index is established. Meanwhile, the weights of the assessment indexes are determined by AHP judgment matrix. Secondly, The attribute measurement functions are given to compute attribute measurement of single index and synthetic attribute, and the attribute recognition model was used to assess the risk of a typical heavy haul railway loess slope, Finally, according to the risk assessment results, the monitoring content and method of this loess slope were determined to avoid geological disasters and ensure the security of the railway infrastructure. This attribute identification- risk assessment- monitoring design mode could provide an effective way for the risk assessment and control of heavy haul railway in the loess plateau.
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Zhang, Feng-Wa,Zhou, Zhao-Yu,Wang, Hai-Lin,Zhang, Jv-Xia,Di, Bao-Shan,Huang, Wen-Hui,Yang, Ke-Hu Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.22
Background and Aim: Laparoscopic and open rectum surgery for rectal cancer remains controversial. This systematic review compared the short-term and long-term efficiency and complications associated with laparoscopic and open resection for rectal cancer. Materials and Methods: We searched PubMed, Embase, Cochrane Library, ISI Web of Knowledge and the China Biology Medicine Database to identify potential randomized controlled trials from their inception to March 31, 2014 without language restriction. Additional articles were identified from searching bibliographies of retrieved articles. Two reviewers independently assessed the full-text articles according to the pre-specified inclusion and exclusion criteria as well as the methodological quality of included trials. The meta-analysis was performed using RevMan 5.2. Results: A total of 16 randomized controlled trials involving 3,045 participants (laparoscopic group, 1,804 cases; open group, 1,241 cases) were reviewed. Laparoscopic surgery was associated with significantly lower intraoperative blood loss, earlier return of bowel movement and reduced length of hospital stay as compared to open surgery, although with increased operative time. It also showed an obvious advantage for minimizing late complications of adhesion-related bowel obstruction. Importantly, there were no significant differences in other postoperative complications, oncological clearance, 3-year and 5-year or 10 year recurrence and survival rates between two procedures. Conclusions: On the basis of this meta-analysis we conclude that laparoscopic surgery has advantages of earlier postoperative recovery, less blood loss and lower rates of adhesion-related bowel obstruction. In addition, oncological outcome is comparable after laparoscopic and open resection for rectal cancer.
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Hai-Bin Zhang,Yang-Hann Kim,Wei-Kang Jiang 한국소음진동공학회 2012 한국소음진동공학회 학술대회논문집 Vol.2012 No.10
Nearfield acoustic holography method predicts an unmeasured sound field, therefore it depends on its prediction methods. In particular, if one has radiators or scatters, which cannot be expressed by simple geometry, then inverse boundary element method (BEM) is normally employed to reconstruct the sound field induced by sound sources with irregular profiles. The characteristics of boundary element, including the element shape, characteristic length, order of shape function and others, affect the reconstruction error. Investigating the errors by means of changing these factors will provide a guide line for selecting appropriate factors, associated with the elements of BEM. These factors are investigated by numerical simulations, and the accuracies with respect to the variant factors are compared. Novel suggestions for selecting appropriate boundary element factors are described based on the simulation results.
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Galectin-9 Acts as a Prognostic Factor with Antimetastatic Potential in Hepatocellular Carcinoma
Zhang, Zhao-Yang,Dong, Jia-Hong,Chen, Yong-Wei,Wang, Xian-Qiang,Li, Chong-Hui,Wang, Jian,Wang, Guo-Qiang,Li, Hai-Lin,Wang, Xue-Dong Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.6
Considerable research has been conducted concerning galectin-9 and carcinomas, but little information is available about any relation with the hepatocellular carcinoma. In this study, we employed a small interfering RNA (siRNA) targeting galectin-9 to down-regulate the expression in HepG2 cells. As a result, after galectin-9 expression was reduced, cell aggregation was suppressed, while other behaviour such as the proliferation, adhesion and invasion to ECM, cell-endothelial adhesion and transendothelial invasion of the cells were markedly enhanced. When tumors of 200 patients with hepatocellular carcinoma were tested for galectin-9 expression by immunohistochemistry, binding levels demonstrated intimate correlations with the histopathologic grade, lymph node metastasis, vascular invasion and intrahepatic metastasis (P<0.05). Moreover, survival analysis indicated that patients with galectin-9 expression had much longer survival time than those with negative lesions, and the Log-rank test indicated that this difference was statistical significant (P<0.0001). The Cox proportional hazards model suggested that negative galectin-9 expression in hepatocellular carcinoma represented a significant risk factor for patient survival. We propose that galectin-9 might be a new prognostic factor with antimetastatic potential in patients with hepatocellular carcinoma.
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