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SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy:A case report and literature review

World Journal of Clinical Cases 2021年第21期9卷 6081-6090页

作者： yan-yan zhu Gui-Lian Sun Zhi-Liang yang Department of Pediatrics The First Hospital of China Medical UniversityShenyang 110001Liaoning ProvinceChina

BACKGROUND Special AT-rich sequence binding protein 2(SATB2)-associated syndrome(SAS;OMIM 612313)is an autosomal dominant *** in the SATB2 gene have been identified as *** SUMMARY We report a case of a 13-year-old Chinese boy with lifelong global developmental delay,speech and language delay,and intellectual *** had short stature and irregular dentition,but no other abnormal clinical findings.A de novo heterozygous nonsense point mutation was detected by genetic analysis in exon 6 of SATB2,c.687C>A(p.Y229X)(NCBI reference sequence:NM_001172509.2),and neither of his parents had the *** mutation is the first reported and was evaluated as pathogenic according to the guidelines from the American College of Medical Genetics and *** was diagnosed,and special education *** report of a SAS case in China caused by a SATB2 mutation expanded the genotype options for the *** heterogeneous manifestations can be induced by complicated pathogenic involvements and functions of SATB2 from reviewed literatures:(1)SATB2 haploinsufficiency;(2)the interference of truncated SATB2 protein to wild-type SATB2;and(3)different numerous genes regulated by SATB2 in brain and skeletal development in different developmental *** Global developmental delays are usually the initial presentations,and the diagnosis was challenging before other presentations *** follow-up and genetic analysis can help to diagnose SAS *** for genes affected by SATB2 mutations for heterogeneous manifestations may help to clarify the possible pathogenesis of SAS in the future.

关键词： Special AT-rich sequence binding protein 2 SATB2-associated syndrome Global developmental delay Developmental speech and language delay Case report

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Solid-state phase transformation of TC11 titanium during unstable thermal cycling in laser melting deposition process

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Journal of Iron and Steel Research International 2019年第7期26卷 743-750页

作者： Xiao-dong Li Jin Liu yan-yan zhu Xu Cheng Dong Liu Ji-kui Zhang National Engineering Laboratory of Additive Manufacturing for Large Metallic Components and Engineering Research Center of Ministry of Education on Laser Direct Manufacturing for Large Metallic Components School of Materials Science and Engineering Beihang University Beijing 100191 China Beijing Yuding Additive Manufacturing Research Institute Co. Ltd. Beijing 100096 China School of Aircraft Design Beihang University Beijing 100191 China

Thermal cycling procedure during laser additive manufacturing (LAM) process causes the appearance of bright and dark patterns on the etched surface of TC11 alloy components. The formation mechanisms of these patterns and the solid-state transformation related to LAM process are systematically investigated with the predication of temperature fields using the finite element software ABAQUS. The results indicate that by increasing subsequent thermal cycles, the peak temperatures for every cycle decrease. When peak temperatures are above Tβ(phase transition temperature of β phase), which is 1010℃ in TC11 alloy, no pattern is observed. Meanwhile, a decrease in peak temperature leads to appearance of an ultrafine basket-weave α+β microstructure (dark contrast) with gradually increased amount of α colonies in the alloy. A special bimodal microstructure with ‘fork-like'α lamella appears in the layer when the peak temperatures of thermal cycles firstly fall into α+β dual-phase region. And this special bimodal microstructure gives a bright contrast and only appears at the region where the peak temperatures are below 970℃, leaving the rest region with a dark contrast. With the continuous increase in thermal cycles in α+β dual-phase region,α lamella gradually coarsens. After five thermal cycles in α+β two-phase region, no further changes in microstructure are observed, and the morphologies of α lamella in dark and bright regions are almost the same but with different amounts of α phase.

关键词： Thermal cycling Laser melting deposition TC11 Solid-state phase transformation Temperature field

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Lignan glucoside from Sinopodophyllum emodi and its cytotoxic activity

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Chinese Chemical Letters 2011年第2期22卷 181-184页

作者： Chang Qi Zhao yan yan zhu Shu Ying Chen Yukio Ogihara Beijing Key Lab of Gene Engineering Drugs & Biological Technology Key Lab for Cell Proliferation & Regulation Biology of Ministry of EducationCollege of Life SciencesBeijing Normal UniversityBeijing 100875China Faculty of Agronome and Biotechnology Yunnan Agriculture UniversityKunming 650201China Faculty of Pharmaceutical Sciences Nagoya City UniversityNagoya 467-8603Japan

A new lignan glycoside was isolated from the n-butanol extract of the roots and rhizomes of Sinopodophyllum *** the basis of spectral evidences,its structure was established and named as 4,5-didemethylpodophyllotoxin 7＇-O-β-D-glucopyranoside. This compound showed cytotoxicity against four human cancer cell lines（Hela,K562,SH-SY5Y and CNE） in vitro.

关键词： Sinopodophyllum emodi Berberidaceae 4,5-Didemethylpodophyllotoxin 7'-O-β-D-glucopyranoside Cytotoxicity

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Effect of thermal deformation on microstructure and properties of TC18 titanium alloy produced by laser additive manufacturing

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Journal of Iron and Steel Research International 2020年第12期27卷 1476-1484页

作者： Xiao-dong Li Chang-yue Qiu Yu-ting Liu Hong-fang Wang Dong-dong Zheng yan-yan zhu Shu-quan Zhang National Engineering Laboratory of Additive Manufacturing for Large Metallic Components and Engineering ResearchCenter Beijing 100191China Ministry of Education on Laser Direct Manufacturing for Large Metallic Components Beijing 100191China Beijing Engineering Technological Research Center on Laser Direct Manufacturing for Large Critical Metallic Component Beijing 100191China School of Materials Science and Engineering Beihang UniversityBeijing 100191China

Grain boundary of α phase damaged ductility of laser melting-deposited TC18 titanium alloy and grain boundary of α phases were difficult to break by nominal heat treatment. An extra thermal deformation was introduced to break the grain boundary of α phase with the improved mechanical property of TC18 titanium alloy fabricated by laser melting deposition *** indicated that after thermal deformation, β grains in alloy seriously elongated. When sample was deformed at temperatures from 750 to 850 ℃, α phase exhibited both rod and irregular morphologies with discontinuous distribution at grain boundary, and the subsequent heat treatment would lead to spheroidization of the α phase. However, after deformation at 900 ℃, α phase transferred into β phase and the subsequent heat treatment would make continuous grain boundary of α phase reappear. The suitable hot deformation can effectively break the continuous grain boundary in laser melting-deposited TC18 alloy with respected improved ductility.

关键词： Laser additive manufacturing Nearβtitanium alloy Thermal deformation Heat treatment Microstructural characteristics

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Silencing of Bcl-XL Expression in Human MGC-803 Gastric Cancer Cells by siRNA

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Acta Biochimica et Biophysica Sinica 2005年第8期37卷 555-560页

作者： Xiao-Yong LEI~(#*) Miao ZHONG~# Lan-Fang FENG Chun-yan yan Bing-yang zhu Sheng-Song TANG Duan-Fang LIAO Institute of Pharmacy and Pharmacology,Nanhua University,Hengyang 421001,China Institute of Pharmacy and Pharmacology Nanhua UniversityHengyang 421001 China

To investigate the inhibitory effect of the Bcl-XL small interfering RNA(siRNA)on BcI-XLgene expression in the human gastric cancer cell line MGC-803,green fluorescent protein(GFP)siRNAwas constructed and transfected into MGC-803 ceils,together with GFP expression vector pTrace *** expression levels were observed using fluorescence ***-XL siRNA and negative siRNAwere then constructed and stably transfected into MGC-803 ***-PCR and immunofluorescence wereused to detect the expression of *** apoptosis was detected by acridine orange(AO)andflow *** were as follows:(1)48 h after GFP expression vector and GFP siRNA co-transfection,the expression level of GFP in the GFP siRNA group was much lower than the negative siRNA group,according to fluorescence microscopy *** mRNA and protein levels of Bcl-XL in Bcl-XL siRNAstable transfectants were reduced to almost background level compared with negative siRNA transfectantsor untreated cells.(2)Changes in nucleus morphology was observed by AO staining nucleic and flowcytometry analysis,which showed that stable Bcl-XL siRNA transfectants have an increased spontaneousapoptosis (21.17%+1.26% vs.1.19%+0.18% and 1.56%+0.15% respectively,P<0.05 *** siRNAor untreated control),siRNA targeting GFP or Bcl-XL genes can specifically suppress GFP or BcI-XLexpression in MGC-803 cells,and Bcl-XL siRNA can increase spontaneous ***-XL siRNA maybe a beneficial agent against human gastric adenocarcinoma.

关键词： Bcl-XL siRNA MGC-803 cells

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Regorafenib combined with programmed cell death-1 inhibitor against refractory colorectal cancer and the platelet-to-lymphocyte ratio’s prediction on effectiveness

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World Journal of Gastrointestinal Oncology 2022年第4期14卷 920-934页

作者： Yu-Jie Xu Peng Zhang Jin-Long Hu Hong Liang yan-yan zhu Yao Cui Po Niu Min Xu Ming-Yue Liu Department of Oncology Henan Provincial People's HospitalPeople's Hospital of Zhengzhou UniversityZhengzhou 450003Henan ProvinceChina Department of Gastrointestinal Surgery Henan Provincial People's HospitalPeople's Hospital of Zhengzhou UniversityZhengzhou 450003Henan ProvinceChina Department of Hepatology The Third People's Hospital of ZhengzhouZhengzhou 450003Henan ProvinceChina

BACKGROUND The effectiveness of regorafenib plus programmed cell death-1(PD-1)inhibitor in treating microsatellite stable(MSS)metastatic colorectal cancer(mCRC)remains *** To investigate the benefits of regorafenib combined with PD-1 inhibitor in treating MSS mCRC and explore indicators predicting *** This retrospective study included a total of 30 patients with microsatellite stable metastatic colorectal cancer treated with regorafenib combined with programmed cell death-1 inhibitor at Henan Provincial People’s Hospital between December 2018 and December *** a 4-wk treatment cycle,regorafenib was performed for 3 continuous ***-1 inhibitor was intravenously injected starting on the first day of the oral intake of *** reviewed tumor response,progression-free survival(PFS),overall survival,and treatment-related adverse events(TRAEs)and evaluated association between platelet-tolymphocyte ratio(PLR)and outcomes in this retrospective *** Stable disease and progressive disease were found in 18(60.0%)and 12(40.0%)patients,*** disease control rate was 60.0%.The median follow-up time was 12.0 mo,and median PFS was 3.4 mo[95%confidence interval(CI):2.2-4.6 mo].Of the 12 patients with progressive disease,10(83.3%)had liver metastasis before starting the combined *** the 18 patients with SD,10(55.6%)did not have liver *** patient without liver metastases at baseline was found with a substantially prolonged PFS of 11.2 *** liver metastasis,the choice of programmed cell death-1 inhibitor other than nivolumab or pembrolizumab and previous exposure to regorafenib was’t associated with treatment *** median PFS in the low-PLR group was 4.2 mo(95%CI:3.5-4.9 mo),compared with 2.8 mo(95%CI:1.4-4.2 mo)in the high-PLR group(P=0.005).The major TRAEs included hand-foot syndrome(33.3%),hypertension(23.3%),malaise(20.0%),and gastrointestinal reaction(16.7%).The incidence of grade 3 TRAE

关键词： Colorectal neoplasms Microsatellite stable Programmed cell death-1 inhibitor Platelet-tolymphocyte ratio Regorafenib Progression-free survival

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Effect of Nd addition on microstructure and tensile properties of laser additive manufactured TC11 titanium alloy

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Transactions of Nonferrous Metals Society of China 2022年第5期32卷 1501-1512页

作者： Wen-gao yan Hua-ming WANG Hai-bo TANG Xu CHENG yan-yan zhu National Engineering Laboratory of Additive Manufacturing for Large Metallic Components Research Institute for Frontier ScienceBeihang UniversityBeijing 100191China Ningbo Institute of Technology Beihang UniversityNingbo 315800China

Single-layer and multilayer laser additive manufacturing(LAM)for TC11 alloy with different Nd additions was conducted and the effect of Nd addition on microstructure and properties was *** the addition of Nd,the aspect ratio of melting pools of single-layer specimens increases and the columnar-to-equiaxed transition *** originalβgrain size andαplate width of TC11−1.0Nd are significantly reduced compared with those of pure TC11 *** is proposed that the evenly distributed fine Nd_(2)O_(3) precipitates of about 1.51μm are formed preferentially during rapid solidification of melting pool,and they serve as heterogeneous nucleation particles to refine the microstructure in the subsequent solidification and solid-state phase *** to the multiple effects of Nd on the microstructure,the ultimate tensile strength of TC11−1.0Nd increases,while the yield strength,ductility and microhardness decrease compared with those of pure TC11.

关键词： laser additive manufacturing titanium alloy rare-earth element microstructure grain refinement mechanical properties

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Establishment of an oligoasthenospermia mouse model based on TAp73 gene suppression

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Animal Models and Experimental Medicine 2021年第4期4卷 351-358页

作者： Hong-Juan Liu Meng-Yun Deng yan-yan zhu De-Ling Wu Xiao-Hui Tong Li Li Lei Wang Fei Xu Tong-Sheng Wang School of Integrated Traditional Chinese and Western Medicine Anhui University of Chinese MedicineHefeiChina Anhui Province Key Laboratory of Chinese Medical Formula School of PharmacyAnhui University of Chinese MedicineHefeiChina

Background:Oligoasthenospermia is one of the main causes of male *** usually use chemical drugs to directly damage germ cells to prepare oligoasthenospermia models,which disregards the adhesion and migration between spermatogenic cells and Sertoli ***73 is a critical regulator of the adhesin of germ cell;thus,we sought to explore a novel oligoasthenospermia model based on TAp73 gene ***:Mice in the Pifithrin-αgroup were injected intraperitoneally with 2.5 mg/kg Pifithrin-α(TAp73 inhibitor)daily for 30 consecutive *** hormone levels and epididymal sperm quality,as well as the network morphology of Sertoli cells were ***:Sperm density,motility,and the relative protein and mRNA expression of TAp73 and Nectin 2 were obviously decreased in the Pifithrin-αgroup compared with the normal control *** significant distinction was observed in the relative mRNA and protein expression of ***,the tight junctions(TJs)and api-cal ectoplasmic specialization(ES)were destroyed in the Pifithrin-α***:The above results indicate that we successfully established a new oli-goasthenospermia mouse *** study provides a foundation for further explo-ration of the roles of TAp73 genes during spermatogenesis and provides new research objects for further oligospermia research and future drug discovery.

关键词： ectoplasmic specialization Nectin 2 oligoasthenospermia TAp73 ZO-1

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Influence of heat treatments on microstructure and mechanical properties of laser additive manufacturing Ti-5Al-2Sn-2Zr-4Mo-4Cr titanium alloy

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Transactions of Nonferrous Metals Society of China 2018年第1期28卷 36-46页

作者： yan-yan zhu Bo CHEN Hai-bo TANG Xu CHENG Hua-ming WANG Jia LI School of Materials Science and Engineering Beihang University Beijing 100083 China National Engineering Laboratory of Additive Manufacturing for Large Metallic Components Beijing 100083 China

The effect of heat treatments on laser additive manufacturing(LAM)Ti-5Al-2Sn-2Zr-4Mo-4Cr titanium alloy(TC17)was studied aiming to optimize its microstructure and mechanical *** as-deposited sample exhibits features of a mixed priorβgrain structure consisting of equiaxed and columnar grains,intragranular ultra-fineαlaths and numerous continuous grain boundaryα(αGB).After being pre-annealed inα+βregion(840°C)and standard solution and aging treated,the continuousαGB becomes coarser and the precipitate free zone(PFZ)nearby theαGB transforms into a zone filled with ultra-fine secondaryα(αS)but no primaryα(αP).When pre-annealed in singleβregion(910°C),allαphases transform intoβphase and the alloying elements distribute uniformly near the grain ***αGB and uniform mixture ofαP andαS near grain boundary form after subsequent solution and aging *** two heat treatments can improve the tensile mechanical properties of LAM TC17to satisfy the aviation standard for TC17.

关键词： laser additive manufacturing TC17 titanium alloy heat treatment microstructure mechanical properties

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Serum thymosin β4 levels in patients with hepatitis B virus-related liver failure

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World Journal of Gastroenterology 2010年第5期16卷 625-630页

作者： Tao Han,Ying Liu,Huan Liu,Zheng-yan zhu,yan Li,Shi-Xiang Xiao,Zhen Guo,Zhen-Gang Zhao,Department of Hepatology,Tianjin Institute of Hepatobiliary Disease,Tianjin Key Laboratory of Artificial Cells,Tianjin Third Central Hospital,Tianjin Medical University,83 Jintang Road,Tianjin 300170, China Department of Hepatology Tianjin Institute of Hepatobiliary Disease Tianjin Key Laboratory of Artificial Cells Tianjin Third Central Hospital Tianjin Medical University 83 Jintang Road Tianjin 300170 China. hantaomd@***

AIM:To investigate whether serum thymosinβ4 can provide diagnostic or prognostic information in liver failure patients caused by chronic hepatitis B virus(HBV) infection. METHODS:Serum thymosinβ4 levels were measured in 30 patients with acute-on-chronic liver failure(ACLF), 31 patients with chronic liver failure(CLF),30 patients with compensated liver cirrhosis(CR)and 32 patients with chronic hepatitis B and 30 healthy *** thymosinβ4 levels were measured by enzyme-linked immunosorbent assay and Child-Pugh and model for end-stage liver disease(MELD)scores were calculated for each patient on ***:Compared with healthy controls,serum thymosinβ4 levels in ACLF,CLF,CR and chronic hepatitis B patients were significantly lower,6.5047 (4.7879-10.5314)μg/mL vs 0.4632(0.2759-0.8768) μg/mL,0.6981(0.5209-1.2008)μg/mL,1.8053 (0.8110-2.3397)μg/mL,3.7803(1.8570-6.4722)μg/mL, respectively(P<0.001).The levels of thymosinβ4 in liver failure(ACLF or CLF)patients were markedly lower than that in CR(P<0.001),and a difference was also found between CLF and ACLF patients(P=0.038).In patients with chronic liver disease,there was a positive relationship between thymosinβ4 levels and albumin, choline esterase,and platelet(P<0.001),and negative relationship with alanine aminotransferase(P=0.020), aspartate aminotransferase,total bilirubin,international normalized ratio of prothrombin time,and Child-Pugh and MELD scores(P<0.001).Of the 61 liver failure patients,the thymosinβ4 levels of non-survivors were significantly lower than that of survivors(P=0.007). Receiver operating characteristics analysis identified a thymosinβ4 cutoff level of 0.5708μg/mL for predicting poor prognosis in all liver failure *** serial thymosinβ4 values were observed in 13 liver failure *** initial values were observed in the *** greater improvement in thymosinβ4 value was found in those who recovered from the disease. CONCLUSION:Serum thymosinβ4 can be used as an

关键词： Thymosinβ4 Liver failure Serum Hepatitis B virus Biochemistry

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