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Mutations of ARX and non-syndromic intellectual disability in Chinese population
Yufei Wu,Huan Zhang,Xiaofen Liu,Zhangyan Shi,Hongling Li,Zhibin Wang,Xiaoyong Jie,Shao-Ping Huang,Fu-Chang Zhang,Junlin Li,Ke-Jin Zhang,Xiao-Cai Gao 한국유전학회 2019 Genes & Genomics Vol.41 No.1
Mutations of Aristaless-related homeobox (ARX) gene were looked as the third cause of non-syndromic intellectual disability (NSID), while the boundary between true disease-causing mutations and non-disease-causing variants within this gene remains elusive. To investigate the relationship between ARX mutations and NSID, a panel comprising six reported causal mutations of the ARX was detected in 369 sporadic NSID patients and 550 random participants in Chinese. Two mutations, c.428_451 dup and p.G286S, may be disease-causing mutations for NSID, while p.Q163R and p.P353L showed a great predictive value in female NSID diagnosis with significant associations (X2 = 19.60, p = 9.54e−6 for p.Q163R; X2 = 25.70, p = 4.00e−07 for p.P353L), carriers of these mutations had an increased risk of NSID of more than fourfold. Detection of this panel also predicted significant associations between genetic variants of the ARX gene and NSID (p = 3.73e−4). The present study emphasized the higher genetic burden of the ARX gene on NSID in the Chinese population, molecular analysis of this gene should be considered for patients presenting NSID of unknown etiology.
Liu Furu,Gao Menghui,Wu Qiongqiong,Yan Meiqi,Wu Renrong,Shao Ping,Huang Jing 대한신경정신의학회 2023 PSYCHIATRY INVESTIGATION Vol.20 No.5
Objective This study aimed to evaluate the consistency or stability of mental disorders diagnosed in the psychiatry ward setting, investigate factors associated with consistency, and observe the disease distribution over the decade.Methods A total of 20,359 psychiatric inpatients were included in this retrospective study from June 2011 to December 2020. Diagnoses from the first admission to discharge were evaluated to determine the diagnostic consistency during hospitalization. Readmissions were selected as the subgroup, whose first and last discharge diagnoses were compared to analyze the relatively long-term diagnostic stability. Demographic and clinical characteristics were collected to identify predictors of diagnostic discrepancy.Results From 2011–2020, the hospitalization rate decreased from 42.7% to 20.7% for schizophrenia and grew from 13.3% to 23.8% for depression. Diagnoses were retained by 92.6% of patients at their first discharge diagnosis, ranging from 100% for disorders of psychological development to 16.3% for unspecified mental disorders. About 33.9% of diagnostic conversions were to bipolar disorder in patients having inconsistent diagnoses. However, among rehospitalizations, the diagnostic stability notably dropped to 71.3%. For rehospitalizations, mood disorders and schizophrenia spectrum disorders were relatively stable diagnoses categories, with 72.6% to 76.7% of patients receiving the same diagnosis, although results of specified diagnoses within these categories ranged from 5.9% to 91.0%. Except for mood disorders and schizophrenia spectrum disorders, the diagnoses of all other categories were below 70%. Long lengths of hospitalization and old age were associated with short-term diagnosis alterations.Conclusion Longitudinal follow-up and integration of multiple aspects of information are essential for accurate diagnosis.
Non-Doped Organic Light-Emitting Diodes with Saturated Red Emission
Fei Xiao,Bing-xian Shao,Huan-rong Wu,Hui-ying Fu,Xiao-yuan Hou,Xin-dong Gao,Yi-qiang Zhan 한국물리학회 2007 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.50 No.2
Non-doped organic light-emitting diodes with saturated red emission were fabricated using 4-(2-(3,3-dicyanomethylene-5,5-dimethyl-1-cyclohexylidene)vinyl)phenyldi(1-naphthyl)amine (DNP-2CN) or 4-(2-(3,3-dicyanomethylene-5,5-dimethyl-1-cyclohexylidene)vinyl)phenyl(1-naphthyl)phe- nylamine (DPN-2CN) as the emitting layer. Different electron-transporting materials, tris(8-hydroxylquinoline) aluminum (Alq$_3$), 2,2',2''-(1,3,5-phenylene)tris[1-phenyl-1$H$-benzimidazole] (TPBI) and 2-(4-biphenyl)-5-(4-tert-butylphenyl)-1,3,4-oxadiazole (PBD), were introduced into the devices for examining their energy level compatibility of DNP-2CN or DPN-2CN. The device with a structure of ITO/ NPB/ DNP-2CN/ BCP/ Alq$_3$/ LiF/ Al showed red emission with $\lambda_{max}$ at 670 nm (CIE coordinates: $x$ = 0.66, $y$ = 0.33) and a high luminance of 438 cd m$^{-2}$ at a driving voltage of 12 V. The device with a structure of ITO/ NPB/ DPN-2CN/ BCP/ Alq$_3$/ LiF/ Al showed a high brightness of 225 cd m$^{-2}$ at a driving voltage of 12 V with $\lambda_{max}$ at 674 nm (CIE coordinates: $x$ = 0.65, $y$ = 0.33).
Arjun Sinkemani,Xin Hong,Zeng-Xin Gao,Su-Yang Zhuang,Zan-Li Jiang,Shao-Dong Zhang,Jun-Ping Bao,Lei Zhu,Pei Zhang,Xin-Hui Xie,Feng Wang,Xiao-Tao Wu 대한척추외과학회 2015 Asian Spine Journal Vol.9 No.6
Study Design: Retrospective, case control evaluation of 86 patients who underwent microendoscopic discectomy (MED) and percutaneous transforaminal endoscopic discectomy (PTED) for the treatment of lumbar disc herniation (LDH). Purpose: To evaluate the safety and the outcomes of MED and PTED for the treatment of LDH. Overview of Literature: MED and PTED are minimally invasive surgical techniques for lower back pain. Studies to date have shown that MED and PTED are safe and effective treatment modalities for LDH. Methods: A retrospective study was performed in patients with LDH treated with MED (n=50) and transforaminal endoscopic discectomy (PTED; n=36) in our hospital. All patients were followed-up with self-evaluation questionnaires, Oswestry disability index (ODI), medical outcomes study 36-item short form health survey and MacNab criteria. All the patients in both groups were followed up to 12 months after the operation. Results: ODI questionnaire responses were not statistically different between the MED and PTED groups (53.00 vs. 48.72) before treatment. Average scores and minimal disability after 5 days to 12 months of follow-up were 4.96 in the MED group and 3.61 in the PTED group. According to MacNab criteria, 92.0% of the MED group and 94.4% of the PTED group had excellent or good results with no significant difference. Conclusions: There was no significant difference between MED and PTED outcomes. Further large-scale, randomized studies with long-term follow-up are needed.
Agglomeration of particles during coal combustion in multistage spouted fluidized tower
Jia-Xun Liu,Jian-Min Gao,Xiao-Feng Wang,Shao-Hua Wu,Ji-Hui Gao 한국화학공학회 2009 Korean Journal of Chemical Engineering Vol.26 No.3
An experimental platform of spray agglomeration has been designed and built for removing small fly ash particles (PM10) from coal combustion. Systematic experiments were conducted in a multistage spouted tower using kinds of agglomerant solutions. The particle concentration increases greatly from the first stage to the second stage of the tower. With the increase of flue gas flow rate the oscillation of impulse signal response curves increases and the internal circulation of the tower intensifies. The influencing factors such as the surfactant, PH value, flow rate of the agglomerant solutions and inlet flue gas temperature were analyzed. SEM was used to analyze the microstructure of the particles. Final results indicate that the special shape of a multistage spouted fluidized tower has significant influences on the effect of agglomeration. The findings from this work will be helpful to form the basis, and provide guidance for, further studies on the control of fine particles such as PM2.5 or even smaller.
Guangdong Hu,Jing Wang,Hui Huang,Fusheng Quan,Jian Kang,Yongyan Wu,Yuanpeng Gao,Feng Su,Minghao Shao,Yong Zhang 한국생물공학회 2014 Biotechnology and Bioprocess Engineering Vol.19 No.2
Transposons are widely used for geneticengineering in various model organisms. Recently, piggyBac(PB) has been developed as a transposable and efficientgene transfer tool in mammalian cells. In the present study,we developed three types of PB transposon systemscontaining a dual plasmid system (DPS), a single plasmidsystem (SPS), and a DNA-mRNA combined system (DRPS)and characterized their basic properties in HEK293 cells. The basic elements of the donor plasmid included aselectable-reporter gene expression cassette, two loxP sitesin the same orientation, a multiple cloning site, and twochicken β-globin insulator core elements. We further identifiedthe function of the selectable-reporter and examined PBintegration sites in the human genome. Moreover, wecompared the transposition efficacy and found that SPStransposed more efficiently, as compared to DPS; integrationinto the host genome was determined by measuring PBaseactivity. Results discovered the loss of PBase activity in theDRPS, indicating that this system is much more biologicallysafe, as compared to DPS and SPS. Finally, we employedthe DRPS to successfully perform a gene delivery intobovine mammary epithelial cells (BMECs). Taken together,the information from this study will improve the flexibilityof PB transposon systems and reduce the genotoxicity ofPBase in genetic engineering.