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Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports

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World Journal of Clinical Cases 2024年第8期12卷 1544-1548页

作者： Fei hou Yan Li hua Jin Department of Prenatal Diagnosis Jinan Maternal and Child Health HospitalJinan 250001Shandong ProvinceChina

BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

关键词： Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis Prenatal diagnosis Case report

Escape probability for isotropic emitters near Kerr black hole with astrometric

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Communications in Theoretical Physics 2024年第5期76卷 128-133页

作者： Yu-Xuan Han qing-hua Zhu qing-Guo huang CAS Key Laboratory of Theoretical Physics Institute of Theoretical PhysicsChinese Academy of SciencesBeijing 100190China School of Physical Sciences University of Chinese Academy of SciencesNo.19A Yuquan RoadBeijing 100049China Department of Physics Chongqing UniversityChongqing 401331China School of Fundamental Physics and Mathematical Sciences Hangzhou Institute for Advanced Study UCASHangzhou 310024China

The paper investigates the escape probability for isotropic emitters near a Kerr black hole.We propose a new approach to obtain the escape probability in a general manner,going beyond previous case-by-case studies.This approach is based on studies of the black hole shadow with astrometric observable and can be applied to emitters with an arbitrary 4-velocities and locations,even to the emitters outside of the equatorial plane.We also consider representative examples illustrating how escape probabilities vary with distance,velocity,and inclination angle.Overall,this new approach provides an effective method for studying escape probabilities near Kerr black holes.

关键词： Kerr black hole photon escape probability isotropic emitters

Safflower Yellow Inhibits Progression of Hepatocellular Carcinoma by Modulating Immunological Tolerance via FAK Pathway

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Chinese Journal of Integrative Medicine 2024年第4期30卷 339-347页

作者： JI hua-feng YANG Zi-qiang HAN Jun-jun LI He-fang JIN Zhao-qing CHEN Wei-qing CHEN Fei-hua GONG Mou-chun Department of General Surgery First People's Hospital of Hangzhou Lin'an DistrictHangzhou(311300)China

Objective To explore the anti-tumor effect of safflower yellow(SY)against hepatocellular carcinoma(HCC)and the underlying potential mechanism.Methods An in vitro model was established by mixing Luc-Hepa1-6 cells and CD3^(+)CD8^(+)T cells,followed by adding programmed cell death protein 1(PD-1)antibody(Anti-mPD-1)with or without SY.The apoptosis was detected by flow cytometry and the level of inflammatory cytokines was determined by enzyme-linked immunosorbent assay.The protein levels of programmed cell death 1 ligand 1(PD-L1),chemokine ligand(CCL5),C-X-C motif chemokine ligand 10(CXCL10)were measured by Western blot.An in situ animal model was established in mice followed by treatment with anti-mPD-1 with or without SY.Bioluminescence imaging was monitored with an AniView 100 imaging system.To establish the FAK-overexpressed Luc-Hepa1-6 cells,cells were transfected with adenovirus containing pcDNA3.1-FAK for 48 h.Results The fluorescence intensity,apoptotic rate,release of inflammatory cytokines,and CCL5/CXCL10 secretion were dramatically facilitated by anti-mPD-1(P<0.01),accompanied by an inactivation of PD-1/PD-L1 axis,which were extremely further enhanced by SY(P<0.05 or P<0.01).Increased fluorescence intensity,elevated percentage of CD3+CD8+T cells,facilitated release of inflammatory cytokines,inactivated PD-1/PD-L1 axis,and increased CCL5/CXCL10 secretion were observed in Anti-mPD-1 treated mice(P<0.01),which were markedly enhanced by SY(P<0.05 or P<0.01).Furthermore,the enhanced effects of SY on inhibiting tumor cell growth,facilitating apoptosis and inflammatory cytokine releasing,suppressing the PD-1/PD-L1 axis,and inducing the CCL5/CXCL10 secretion in Anti-mPD-1 treated mixture of Luc-Hepa1-6 cells and CD3+CD8+T cells were abolished by FAK overexpression(P<0.01).Conclusion SY inhibited the progression of HCC by mediating immunological tolerance through inhibiting FAK.

关键词： hepatocellular carcinoma safflower yellow Chinese medicine tumor microenvironment programmed cell death protein 1 focal adhesion kinase

Introducing hydroxyl groups to tailor the d-band center of Ir atom through side anchoring for boosted ORR and HER

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Journal of Energy Chemistry 2024年第3期90卷 144-151,I0005页

作者： qing Lv Meiping Li Xiaodong Li Xingru Yan Zhufeng hou Changshui huang Science Center for Material Creation and Energy Conversion School of Chemistry and Chemical EngineeringInstitute of Frontier and Interdisciplinary ScienceShandong UniversityJinan 250100ShandongChina Institute of Chemistry Chinese Academy of ScienceBeijing 100191China State Key Laboratory of Structural Chemistry Fujian Institute of Research on the Structure of MatterChinese Academy of SciencesFuzhou 350002FujianChina

Tuning the coordination atoms of central metal is an effective means to improve the electrocatalytic activity of atomic catalysts.Herein,iridium(Ir) is proposed to be asymmetrically anchored by sp-N and pyridinic N of hydrogen-substituted graphdiyne(HsGDY),and coordinated with OH as an Ir atomic catalyst(Ir_(1)-N-HsGDY).The electron structures,especially the d-band center of Ir atom,are optimized by these specific coordination atoms.Thus,the as-synthesized Ir_(1)-N-HsGDY exhibits excellent electrocatalytic performances for oxygen reduction and hydrogen evolution reactions in both acidic and alkaline media.Benefiting from the unique structure of HsGDY,IrN_(2)(OH)_(3) has been developed and demonstrated to act as the active site in these electrochemical reactions.All those indicate the fresh role of the sp-N in graphdiyne in producing a new anchor way and contributing to promote the electrocatalytic activity,showing a new strategy to design novel electrochemical catalysts.

关键词： Oxygen reduction reaction D-band center Graphdiyne Hydroxyl group Electrocatalysis

Fabricating functionally graded Fe-Cr-Co permanent magnetic alloys via laser powder bed fusion

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Journal of Iron and Steel Research(International) 2024年第3期31卷 729-737页

作者： Ya-zhou He Ya-qing hou Peng Shen Hao Zhang Dong Zhou Hang Su Central Iron and Steel Research Institute Co. Ltd.Beijing 100081China Material Digital R&D Center China Iron and Steel Research Institute Group Co.Ltd.Beijing 100081China

Laser powder bed fusion(LPBF)in-situ alloying technology offers the possibility to construct gradient materials with varied structures and properties.Functionally graded Fe-Cr-Co permanent magnetic alloys were fabricated by LPBF and in-situ alloying mixed powders of Fe,Cr,and Co elements.The effects of different Fe,Cr and Co contents on the microstructure,magnetic properties and hardness of Fe-Cr-Co alloys prepared by LPBF were studied.The as-built Fe-Cr-Co alloys present a single body-centered-cubic phase and have a homogeneous distribution of elements.The mechanical properties and magnetic properties of the compositionally graded sample show a gradient variation.With the increase in Cr content,the Vickers hardness of the sample increases,and the saturation magnetization of the sample decreases.The optimal magnetic properties in an isotropic state are given as coercivity HcB=21.65 kA/m,remanence Br=0.70 T and energy product(BH)_(max)=5.35 kJ/m^(3),which are comparable to or higher than the reported magnetic properties in an isotropic state prepared by traditional powder metallurgy.LPBF in-situ alloying technology has the potential to further explore Fe-Cr-Co magnetic materials,such as those consisting of multiple or more constituent elements,and to maximize the compositional flexibility of magnetic materials.

关键词： Fe-Cr-Co alloy Laser powder bed fusion In-situ alloying Functional material Magnetic property

Current status of Mycoplasma pneumoniae infection in China

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World Journal of Pediatrics 2024年第1期20卷 1-4页

作者： Chao Yan Guan-hua Xue Han-qing Zhao Yan-Ling Feng Jing-hua Cui Jing Yuan Department of Bacteriology Capital Institute of PediatricsNo.2Yabao RoadBeijing 100020People's Republicof China

Mycoplasma pneumoniae(M.pneumoniae)is one of the most important pathogens for community-acquired pneumonia worldwide,especially in children and adolescents[1,2].M.pneumoniae is easily transmitted through droplets or direct contact in densely populated,enclosed,or poorly ventilated environments.The incubation period is 1-3 weeks,and it is contagious from the incubation period to a few weeks after clinical symptom relief.M.pneumoniae infection can occur in any season,and there are differences in the epidemic seasons among regions in China[3].The most suitable culture temperature for M.pneumoniae is between 35℃C and 37 C,and therefore,hot weather may make it survive longer in the environment and spread further.Infection is more common in autumn and winter in northern China,while it is more prevalent in summer and autumn in southern China.

关键词： winter weather autumn

Effects of Custom-made Insoles on Plantar Biomechanics and Upper Extremity Muscle Performance

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Current Medical Science 2022年第1期42卷 159-168页

作者： Yi XU qing-hua hou Xiu-lan HAN Chu-huai WANG Dong-feng huaNG Department of Rehabilitation Medicine the 7th Affiliated HospitalSun-Yat Sen UniversityShenzhen 518107China Guangdong Provincial Engineering Technology Research Center for Rehabilitation Medicine and Clinical Translation Guangzhou 510080China Clinical Neuroscience Center The 7th Affiliated HospitalSun Yat-sen UniversityShenzhen 518107China Department of Rehabilitation Medicine The 1st Affiliated HospitalSun-Yat Sen UniversityGuangzhou 510080China

Objective:To investigate the effectiveness of molding custom-made insoles for female patients with foot pain.Methods:The study included 20 patients whose insoles were prescribed according to biomechanical evaluations ... 详细信息

关键词： shoes insole therapeutics biomechanics foot pain

TRPC6 Knockout Alleviates Renal Fibrosis through PI3K/AKT/GSK3B Pathway

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Current Medical Science 2024年第3期44卷 589-602页

作者： An-bang SUN Fang-hua LI Lin ZHU Xi-xi ZENG Min ZHU qing-hua LEI Yan-hong LIAO Department of Anatomy School of Basic MedicineTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of Transfusion Medicine Wuhan Hospital of Traditional Chinese and Western MedicineTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of Nephrology The First Affiliated Hospital of Zhengzhou UniversityZhengzhou450052China Department of Thoracic Surgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China National Basic Medical Teaching Demonstration Center Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Key Laboratory of Neurological Diseases of Ministry of Education Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

Objective Renal fibrosis is the ultimate pathway of various forms of acute and chronic kidney damage.Notably,the knockout of transient receptor potential channel 6(TRPC6)has shown promise in alleviating renal fibrosis.However,the regulatory impact of TRPC6 on renal fibrosis remains unclear.Methods In vivo,TRPC6 knockout(TRPC6−/−)mice and age-matched 129 SvEv(WT)mice underwent unilateral renal ischemia-reperfusion(uIR)injury surgery on the left renal pedicle or sham operation.Kidneys and serum were collected on days 7,14,21,and 28 after euthanasia.In vitro,primary tubular epithelial cells(PTECs)were isolated from TRPC6−/−and WT mice,followed by treatment with transforming growth factorβ1(TGFβ1)for 72 h.The anti-fibrotic effect of TRPC6−/−and the underlying mechanisms were assessed through hematoxylin-eosin staining,Masson staining,immunostaining,qRT-PCR,and Western blotting.Results Increased TRPC6 expression was observed in uIR mice and PTECs treated with TGFβ1.TRPC6−/−alleviated renal fibrosis by reducing the expression of fibrotic markers(Col-1,α-SMA,and vimentin),as well as decreasing the apoptosis and inflammation of PTECs during fibrotic progression both in vivo and in vitro.Additionally,we found that the phosphatidylinositol 3-kinase(PI3K)/protein kinase B(AKT)/glycogen synthase kinase 3 beta(GSK3β)signaling pathway,a pivotal player in renal fibrosis,was down-regulated following TRPC6 deletion.Conclusion These results suggest that the ablation of TRPC6 may mitigate renal fibrosis by inhibiting the apoptosis and inflammation of PTECs through down-regulation of the PI3K/AKT/GSK3βpathway.Targeting TRPC6 could be a novel therapeutic strategy for preventing chronic kidney disease.

关键词： transient receptor potential channel 6 ischemia-reperfusion injury renal fibrosis renal tubular epithelial cells

Microstructure and damping properties of LPSO phase dominant Mg-Ni-Y and Mg-Zn-Ni-Y alloys

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Journal of Magnesium and Alloys 2024年第3期12卷 1131-1153页

作者： Ruopeng Lu Kai Jiao Nanting Li hua hou Jingfeng Wang Yuhong Zhao College of Materials Science and Engineering North University of ChinaTaiyuan 030051China College of Materials Science and Engineering Taiyuan University of TechnologyTaiyuan 030024China National Engineering Research Center for Magnesium Alloys Chongqing UniversityChongqing 400044China College of Materials Science and Engineering Chongqing UniversityChongqing 400044China

This work studied the microstructure,mechanical properties and damping properties of Mg_(95.34)Ni_(2)Y_(2.66) and Mg_(95.34)Zn_(1)Ni_(1)Y_(2.66)alloys systematically.The difference in the evolution of the long-period stacked ordered(LPSO)phase in the two alloys during heat treatment was the focus.The morphology of the as-cast Mg_(95.34)Ni_(2)Y_(2.66)presented a disordered network.After heat treatment at 773 K for 2 hours,the eutectic phase was integrated into the matrix,and the LPSO phase maintained the 18R structure.As Zn partially replaced Ni,the crystal grains became rounded in the cast alloy,and lamellar LPSO phases and more solid solution atoms were contained in the matrix after heat treatment of the Mg_(95.34)Zn_(1)Ni_(1)Y_(2.66)alloy.Both Zn and the heat treatment had a significant effect on damping.Obvious dislocation internal friction peaks and grain boundary internal friction peaks were found after temperature-dependent damping of the Mg_(95.34)Ni_(2)Y_(2.66)and Mg_(95.34)Zn_(1)Ni_(1)Y_(2.66)alloys.After heat treatment,the dislocation peak was significantly increased,especially in the alloy Mg_(95.34)Ni_(2)Y_(2).66.The annealed Mg_(95.34)Ni_(2)Y_(2.66)alloy with a rod-shaped LPSO phase exhibited a good damping performance of 0.14 atε=10^(−3),which was due to the difference between the second phase and solid solution atom content.These factors also affected the dynamic modulus of the alloy.The results of this study will help in further development of high-damping magnesium alloys.

关键词： Mg-Ni-Y alloys Mg-Zn-Ni-Y alloys LPSO phase Heat treatment Microstructure Damping properties.