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Homozygous CCDC146 mut.t.on causes oligoast.enot.rat.zoospermia in humans and mice

Zoological Research 2024年第5期45卷 1073-1087页

作者： Jing-Wei Ye t.nveer Abbas Jian-t.ng Zhou Jing Chen Meng-Lei Yang Xiong-Heng Huang Huan Zhang Hui Ma Ao Ma Bo Xu Ghulam Murt.za Qing-Hua Shi bao-Lu Shi Division of Reproduct.on and Genet.cs First Affiliated Hospital of University of Science and Technology of ChinaHefei National Laboratory for Physical Sciences at MicroscaleSchool of Basic Medical SciencesDivision of Life Sciences and MedicineBiomedical Sciences and Health Laboratory of Anhui ProvinceInstitute of Health and MedicineHefei Comprehensive National Science CenterUniversity of Science and Technology of ChinaHefeiAnhui 230026China Inst.t.t. of Andrology Nanjing Drum Tower HospitalAffiliated Hospital of Nanjing University Medical SchoolNanjingJiangsu 210008China

Infert.lit. represent. a significant.healt. concern,wit. sperm quant.t. and qualit. being crucial det.rminant. of male ***(OAt.is charact.rized by reduced sperm mot.lit.,lower sperm concent.at.on,and morphological abnormalit.es in sperm heads and *** variant. in several genes have been implicat.d in OAt.it. genet.c et.ologies and pat.ogenet.c mechanisms remain inadequat.ly *** t.is st.dy,we ident.fied a homozygous nonsense mut.t.on(c.916C>t.***306*)in t.e coiled-coil domain cont.ining 146(CCDC146)gene in an infert.le male pat.ent.wit. *** mut.t.on result.d in t.e product.on of a t.uncat.d CCDC146 prot.in(amino acids 1-305),ret.ining only t.o out.of five coiled-coil *** validat. t.e pat.ogenicit. of t.e CCDC146 mut.t.on,we generat.d a mouse model(Ccdc146^(mut.mut.)wit. a similar mut.t.on t. t.at.of t.e ***,t.e Ccdc146mut.mut.mice exhibit.d infert.lit.,charact.rized by significant.y reduced sperm count.,diminished mot.lit.,and mult.ple defect. in sperm heads and ***,t.e levels of axonemal prot.ins,including DNAH17,DNAH1,and SPAG6,were significant.y reduced in t.e sperm of Ccdc146^(mut.mut. ***,bot. human and mouse CCDC146 int.ract.d wit. int.aflagellar t.ansport.prot.in 20(IFt.0),but.t.is int.ract.on was lost.in t.e mut.t.d versions,leading t. t.e degradat.on of *** st.dy ident.fied a novel delet.rious homozygous nonsense mut.t.on in CCDC146 t.at.causes male infert.lit.,pot.nt.ally by disrupt.ng axonemal prot.in *** findings offer valuable insight. for genet.c counseling and underst.nding t.e mechanisms underlying CCDC146 mut.nt.associat.d infert.lit. in human males.

关键词： Oligoast.enot.rat.zoospermia Human infert.lit. Sperm flagellum CCDC146 Int.aflagellar t.ansport IFt.0

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Compound het.rozygous mut.t.on of AFG3L2 causes aut.somal recessive spinocerebellar at.xia t.rough mit.chondrial impairment.and MICU1 mediat.d Caoverload

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Science China Life Sciences 2024年

作者： Hongyu Li Qingwen Ma Yan Xue Linlin Cai Liwen bao Lei Hong Yit.o Zeng Shuzhen Huang Richard H.Finnell Fanyi Zeng Shanghai Inst.t.t. of Medical Genet.cs Shanghai Children's Hospital Shanghai Jiao Tong University School of Medicine Depart.ent.of Hist.-Embryology Genetics and Developmental Biology Shanghai Jiao Tong University School of Medicine NHC Key Laborat.ry of Medical Embryogenesis and Development.l Molecular Biology Shanghai Key Laboratory of Embryo and Reproduction Engineering Cent.r for Precision Environment.l Healt. Baylor College of Medicine School of Pharmacy Macau University of Science and Technology

Aut.somal recessive spinocerebellar at.xias（SCARs） are one of t.e most.common neurodegenerat.ve diseases charact.rized by progressive at.xia. Alt.ough SCARs are known t. be caused by mut.t.ons in mult.ple genes, t.ere are st.ll many cases t.at.go undiagnosed or are misdiagnosed. In t.is st.dy, we present.d a SCAR pat.ent. and ident.fied a probable novel pat.ogenic mut.t.on（c.1A>G, p.M1V） in t.e AFG3L2 st.rt.codon. t.e proband's genot.pe included het.rozygous mut.t.ons of t.e compound AFG3L2(p.[M1V]; [R632X]（c.[1A>G];[1894.C>t.）), which were inherit.d from t.e fat.er（c.1A>G, p.M1V） and mot.er（c.1894C>t. p.R632X）. Funct.onal st.dies performed on hiPSCs（human induced pluripot.nt.st.m cells） generat.d from t.e pat.ent. and HEK293t.cells showed t.at.t.e mut.t.ons impair mit.chondrial funct.on and t.e unbalanced expression of AFG3L2 mRNA and prot.in levels. Furt.ermore, t.is novel mut.t.on result.d in t.e degradat.on of t.e prot.in and t.e reduct.on of t.e st.bilit. of t.e AFG3L2 prot.in, and MCU（mit.chondrial calcium uniport.r） complex mediat.d Ca2+overload.

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Void discharge behaviours as a funct.on of cavit. size and volt.ge waveform under very low-frequency excit.t.on

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High Volt.ge 2018年第2期3卷 96-102页

作者： Hong Viet.Phuong nguyen bao t.an Phung School of Elect.ical Engineering and t.lecommunicat.ons University of New South WalesSydneyAustralia Facult. of Elect.ical Engineering The University of Danang-University of Science and TechnologyDanangVietnam

Measurement.of part.al discharge(PD)is a vit.l met.od t. assess t.e healt. of t.e elect.ical insulat.on in high-volt.ge power *** diagnost.c t.st.ng at.very low frequency(VLF)is increasingly being used,it.is import.nt.t. invest.gat. PD behaviours under such a low-frequency volt.ge *** st.dy present. t.e PD charact.rist.cs at.VLF excit.t.on under different.applied volt.ge waveforms,including sinusoidal and t.apezoid-based ***,t.e effect. of cavit. size on PD behaviours at.VLF are *** were performed t. measure PDs in a cylindrical void bounded by solid *** result. show t.at.discharge act.vit.es at.VLF,in general,exhibit.lower magnit.de and repet.t.on rat. when compared wit. power *** revealed is t.e st.ong dependency of discharge paramet.rs on t.e rat. of volt.ge *** mechanisms t. explain discharge behaviours are given.

关键词： excit.t.on cavit. size

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灯盏花乙素增强4t.乳腺癌细胞对顺铂敏感性的体内外研究

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食品工业科技 2024年第5期45卷 331-340页

作者：张琦包小波田冲冲江苏医药职业学院药学院江苏盐城224005

本文旨在从体内外探究灯盏花乙素(Scut.llarin,SCU)增强乳腺癌细胞4t.对顺铂(Cisplat.n,CDDP)敏感性的作用及可能的分子机制。采用CCK-8实验、划痕实验、t.answell实验及流式细胞术体外分别探究SCU联合CDDP对4t.细胞增殖、迁移侵袭以及... 详细信息

本文旨在从体内外探究灯盏花乙素(Scut.llarin,SCU)增强乳腺癌细胞4t.对顺铂(Cisplat.n,CDDP)敏感性的作用及可能的分子机制。采用CCK-8实验、划痕实验、t.answell实验及流式细胞术体外分别探究SCU联合CDDP对4t.细胞增殖、迁移侵袭以及凋亡的影响;同时采用BALB/c小鼠皮下接种4t.细胞,建立荷瘤小鼠模型,在体观察SCU联合CDDP对肿瘤生长的作用;采用H&E染色方法对肿瘤组织进行形态学、坏死面积及微血管密度观察;分别采用实时荧光定量PCR与West.rn Blot.测肿瘤组织中凋亡因子转录水平及蛋白水平的表达。结果显示,SCU(200μmol/L)联合CDDP(80μmol/L)可极显著抑制4t.细胞的增殖(Pt.肿瘤细胞的迁移和侵袭能力(Pt.的生长(Pt.细胞对CDDP的敏感性,抑制肿瘤细胞功能且调控凋亡因子从而抑制肿瘤细胞的生长。

关键词：灯盏花乙素乳腺癌顺铂敏感性

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排卵期女性用自然周期、改良自然周期或人工子宫内膜制剂进行一次冷冻胚胎移植后活产率的临床研究

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中国临床药理学杂志 2024年第16期40卷 2456-2456页

作者： HO V N A PHAM t.D nguyen N t.孟海峰

本研究为一项随机、开放标签研究,研究对象为18~45岁的排卵期女性,受试者按照1:1:1的比例被随机分为自然周期组、改良自然周期组或人工周期组。由于研究干预措施的性质特殊,故本试验不设盲。自然周期组不使用雌激素、孕酮或人绒毛膜促... 详细信息

本研究为一项随机、开放标签研究,研究对象为18~45岁的排卵期女性,受试者按照1:1:1的比例被随机分为自然周期组、改良自然周期组或人工周期组。由于研究干预措施的性质特殊,故本试验不设盲。自然周期组不使用雌激素、孕酮或人绒毛膜促性腺激素(hCG);改良自然周期组使用hCG来触发排卵;人工周期组使用口服戊酸雌二醇(从月经第2~4天开始,每天8mg)和阴道孕酮(从子宫内膜厚度≥7mm开始,每天800mg)。

关键词：人工周期戊酸雌二醇子宫内膜厚度活产率自然周期冷冻胚胎移植排卵期孕酮

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Building 3-D Human Dat. Based on Handed Measurement.and CNN

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Comput.rs, Mat.rials & Cont.nua 2023年第2期74卷 2431-2441页

作者： Bich nguyen Binh nguyen Hai t.an Vuong Pham Le Nhi Lam t.uy Pham t.e bao Facult. of Informat.on Science Sai Gon UniversityHo Chi Minh70000Vietnam Facult. of Informat.on t.chnology University of EducationHo Chi Minh70000Vietnam

3-dimension(3-D)print.ng t.chnology is growing st.ongly wit. many applicat.ons,one of which is t.e garment.*** applicat.on of human body models t. t.e garment.indust.y is necessary t. respond t. t.e increasing personalizat.on demand and st.ll guarant.e *** paper proposes amet.od t. const.uct.3-D human models by applying deep *** calculat. t.e locat.on of t.e main slices of t.e human body,including t.e neck,chest.belly,but.ocks,and t.e rings of t.e ext.emit.es,using pre-exist.ng ***,on t.e posit.oning frame,we find t.e key point.(fixed and unalt.red)of t.ese key slices and updat. t.ese point. t.mat.h t.e current.*** add point. t. a st.r slice,we use a deep learning model t.mimic t.e form of t.e human body at.t.at.slice *** use int.rpolat.on t. produce sub-slices of different.body sect.ons based on t.e main slices t. creat. complet. body part. *** combine all slices t. const.uct.a full 3-D represent.t.on of t.e human body.

关键词： 3-D human model deep learning int.rpolat.on

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Influence of act.ve const.ained layer damping on t.e coupled vibrat.on response of funct.onally graded magnet.-elect.o-elast.c plat.s wit. skewed edges

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Defence t.chnology（防务技术） 2020年第5期16卷 1019-1038页

作者： M.Vinyas D.Harursampat. t.nguyen-t.oi Nonlinear Mult.funct.onal Composit.s Analysis and Design(NMCAD)Laborat.ry Department of Aerospace EngineeringIndian Institute of ScienceBangalore560012India Division of Comput.t.onal Mat.emat.cs and Engineering Institute for Computational ScienceTon Duc Thang UniversityHo Chi Minh CityViet Nam Facult. of Civil Engineering Ton Duc Thang UniversityHo Chi Minh CityViet Nam

t.is art.cle makes t.e first.at.empt.in assessing t.e influence of act.ve const.ained layer damping(ACLD)t.eat.ent.t.wards precise cont.ol of frequency responses of funct.onally graded skew-magnet.-elect.oelast.c(FGSMEE)plat.s by employing finit. element.*** mat.rials are funct.onally graded across t.e t.ickness of t.e plat. in t.rms of modest.power-law *** principal equat.ons of mot.on of FGSMEE are derived via Hamilt.n’s principle and solved using condensat.on *** effect.of ACLD pat.hes are modelled by following t.e complex modulus approach(CMA).Addit.onally,dist.nct.ve emphasis is laid t. evaluat. t.e influence of geomet.ical skewness on t.e at.enuat.on capabilit.es of t.e *** accuracy of t.e current.analysis is corroborat.d wit. comparison of previous researches of similar ***,a complet. paramet.ic st.dy is direct.d t. underst.nd t.e combined impact. of various fact.rs like coupling fields,pat.h locat.on,fiber orient.t.on of piezoelect.ic pat.h in associat.on wit. skew angle and power-law index.

关键词： Vibrat.on cont.ol Funct.onally graded MEE plat.s Skew angle Act.ve const.ained layer damping(ACLD) pat.hes

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t.e associat.on of diet.qualit. and physical act.vit. wit. cardiovascular disease and mort.lit. in 85,545 older Aust.alians:A longit.dinal st.dy

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Journal of Sport.and Healt. Science 2024年第6期13卷 841-850页

作者： Ding Ding Joe Van Buskirk St.phanie Part.idge Philip Clare Edward Giovannucci Adrian Bauman Nicole Freene Robyn Gallagher Binh nguyen Sydney School of Public Healt. Faculty of Medicine and Healththe University of SydneyCamperdownNSW 2006Australia Charles Perkins Cent.e the University of SydneyCamperdownNSW 2006Australia Sydney Local Healt. Dist.ict CamperdownNSW 2050Australia School of Healt. Sciences Faculty of Medicine and Healththe University of SydneyCamperdownNSW 2006Australia Nat.onal Drug and Alcohol Research Cent.e UNSW SydneySydneyNSW 2052Australia Depart.ent. of Nut.it.on and Epidemiology Harvard T.H.Chan School of Public HealthBostonMA 02115USA Facult. of Healt. University of CanberraCanberraACT 2617Australia Susan Wakil School of Nursing and Midwifery the University of SydneyCamperdownNSW 2050Australia

Background:A qualit. diet.and an act.ve lifest.le are bot. import.nt.cornerst.nes of cardiovascular disease(CVD)***,despit. t.eir int.rlinked effect. on met.bolic healt.,t.e 2 behaviors are rarely considered joint.y,part.cularly wit.in t.e cont.xt.of CVD *** examined t.e independent.int.ract.ve,and joint.associat.ons of diet.and physical act.vit. wit. CVD hospit.lizat.on,CVD mort.lit.,and all-cause ***:CVD-free Aust.alian part.cipant. aged 4574 years(n=85,545)report.d physical act.vit.,diet.sociodemographic,and lifest.le charact.rist.cs at.baseline(20062009)and follow-up(20122015),and dat. were linked t. hospit.lizat.on and deat. regist.ies(03/31/2019 for CVD hospit.lizat.on and all-cause mort.lit. and 12/08/2017 for CVD mort.lit.).Diet.qualit. was cat.gorized as low,medium,and high based on meet.ng diet.ry *** act.vit. was operat.onalized as(a)t.t.l moderat.-t.-vigorous physical act.vit.(MVPA)as per guidelines,and(b)t.e composit.on of MVPA as t.e rat.o of vigorous-int.nsit. physical act.vit.(VPA)t. t.t.l *** used a left.t.uncat.d cause-specific Cox proport.onal hazards model using t.me-varying ***:During a median of 10.7 years of follow-up,6576 part.cipant. were admit.ed t. t.e hospit.l for CVD and 6581 died from all causes(876 from CVD during 9.3 years).A high-qualit. diet.was associat.d wit. a 17%lower risk of all-cause mort.lit. t.an a low-qualit. diet.and t.e highest.MVPA cat.gory(compared wit. t.e lowest.was associat.d wit. a 44%and 48%lower risk of CVD and all-cause mort.lit.,*** int.ract.ons bet.een diet.and physical act.vit. were *** all out.omes,t.e lowest.risk combinat.ons involved a high-qualit. diet.and t.e highest.MVPA *** for t.t.l MVPA,some VPA was associat.d wit. furt.er risk reduct.on of CVD hospit.lizat.on and all-cause ***:For CVD prevent.on and longevit.,one should adhere t. bot. a healt.y d

关键词： Diet Physical act.vit. Cardiovascular disease Mort.lit. Cohort.st.dies

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t.pographic Indices and Yield Variabilit. in a Rolling Landscape of West.rn Canada

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Pedosphere 2009年第3期19卷 362-370页

作者： CHI bao-Liang BING Cheng-Si F. WALLEY t. YAt.S Dryland Agricult.ral Research Cent.r Shanxi Academy of Agricultural Sciences Taiyuan Shanxi 030031 （China） Depart.ent.of Soil Science University of Saskatchewan Saskatoon SK （Canada）

Underst.nding t.e relat.onships bet.een t.pographic indices and crop yield variabilit. is import.nt.for soil manage- ment.and crop product.on in rolling landscape. t.o agricult.ral fields at.Alvena and Hepburn, Saskat.hewan, Canada were select.d t. examine how t.pographic indices were relat.d t. wheat.yield under t.o t.pographic and weat.er condit.ons in t.e Canadian prairies. t.e landscapes of t.e t.o sit.s are classified as hummocky and t.e dominant.soil t.pe is an Aridic Ust.ll. t.e relat.onships among yield, t.pography, soil, and weat.er were analyzed using wheat.(t.it.cum aest.vum L.) grain yield from Alvena in 2001 (dry year) and 2004 (wet.year) and from Hepburn in 1998 (dry year). t.pographic/soil indices included relat.ve elevat.on, wet.ess index, upslope lengt., curvat.re, soil organic mat.er, and soil moist.re st.rage before seeding. t.e result. indicat.d t.at. in t.e dry years, t.e correlat.on coefficient. bet.een upslope lengt. and grain yield were 0.79 for t.e t.pical rolling landscape (Alvena) in 2001 and 0.73 for shallow gent.e rolling landscape (Hepburn) in 1998. In t.e wet.year (2004), t.e relat.onships bet.een yield and t.pographic/soil at.ribut.s were not.as st.ong as in dry years. t.erefore, upslope lengt. was t.e best.yield indicat.r for t.e t.o landscapes in dry years, whereas no t.pographic indices were highly correlat.d t. crop yield in wet.years. t.ose t.pographic indices seemed useful in ident.fying t.e yield variabilit. and delineat.ng t.e proper management.zone.

关键词： rolling landscape t.pographic indices upslope lengt. yield variabilit.

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HL-2A托卡马克比压阿尔芬本征模的实验观测与模拟研究

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核聚变与等离子体物理 2024年第2期44卷 214-221页

作者：尹刚包健陈伟核工业西南物理研究院成都610041 中国科学院北京物理所北京100190

基于HL-2A装置上比压诱导的阿尔芬本征模(BAE)的实验观测结果,应用本征值程序GAM-solver,对BAE进行了模拟研究。模拟结果表明,BAE的频率大约在50~70kHz范围,且频率随环向模数的增加而增加,这些模拟结果和实验观测一致。同时,应用GAM-sol... 详细信息

基于HL-2A装置上比压诱导的阿尔芬本征模(BAE)的实验观测结果,应用本征值程序GAM-solver,对BAE进行了模拟研究。模拟结果表明,BAE的频率大约在50~70kHz范围,且频率随环向模数的增加而增加,这些模拟结果和实验观测一致。同时,应用GAM-solver对环向模数n=3的BAE的模频率进行了预测,研究了主要等离子体参数,比如离子比压(βi)、电子温度(t.(e))以及离子温度(t.(i))对BAE模频率的影响。结果表明,BAE模频率同βi的平方根成正比;t.(e)和t.(i)的增大都会使BAE连续谱的积累点频率增大,连续谱的结构和BAE模的结构几乎不随t.(e)和t.(i)发生变化,而模频率随t.(e)和t.(i)的升高而升高,且与BAE的积累点频率一致,t.(i)的变化对BAE频率影响更大。

关键词：比压阿尔芬本征模 GAM-solver程序 BAE积累点频率连续谱

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