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Current Medical Science 2024年第2期44卷 426-434页

作者： Bi-xin XI Si-ying LIU Yu-ting XU De-dong ZHANG qun hu Ai-guo LIU Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene *** disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional *** this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese ***:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype *** compound heterozygous variants of the GPI gene,c.174C>A(***58Lys)and c.1538G>T(***513Leu),were identified using whole-exome and Sanger *** AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI ***:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and *** study identified novel compound heterozygous variants associated with GPI *** pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino ***:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.

关键词： glucose-6-phosphate isomerase deficiency whole-exome sequencing compound heterozygous variants genetic characterization hydrogen bond

Clinical Analysis and Mental Health Survey of Hemophilia Carriers:a Cross-sectional Study

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Current Medical Science 2024年第2期44卷 435-440页

作者： Wen WANG Li-juan JIANG Dong-yan CUI Ai ZHANG Xiong WANG Ai-guo LIU qun hu Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Laboratory Medicine Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health *** purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of ***,we aimed to investigate the mental health status of HCs in ***:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this *** distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or *** factor activity was detected by a one-stage clotting *** Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental ***:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,*** median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding *** total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and *** pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations

关键词： hemophilia A hemophilia B mutation carrier mental health

RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 311-316页

作者： Jin Li Yi-qun hu Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao huang Xiao-He Yan Shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina

AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same ***:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the *** we reviewed the characteristics of the patients reported with the same ***:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis *** best corrected vision was 0.04 OD and 0.12 OS,*** fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left *** shows bilateral symmetrical *** revealed that the amplitudes of a-and b-wave were severely *** ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was *** clinical characteristics of a total of 13 patients reported with the same pathologic variant ***:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are *** clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.

关键词： RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging

Dynamic intrauterine crosstalk promotes porcine embryo implantation during early pregnancy

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Science China(Life Sciences) 2024年第8期67卷 1676-1696页

作者： Xupeng Zang Shengchen Gu Wenjing Wang Junsong Shi Jianyu Gan qun hu Chen Zhou Yue Ding Yanjuan He Lei Jiang Ting Gu Zheng Xu Sixiu huang huaqiang Yang Fanming Meng Zicong Li Gengyuan Cai Linjun Hong Zhenfang Wu State Key Laboratory of Swine and Poultry Breeding Industry National Engineering Research Center for Breeding Swine IndustryCollege of Animal ScienceSouth China Agricultural UniversityGuangzhou 510642China Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding South China Agricultural UniversityGuangzhou 510642China Yunfu Subcenter of Guangdong Laboratory for Lingnan Modern Agriculture Yunfu 527300China Guangdong Key Laboratory of Animal Breeding and Nutrition Institute of Animal ScienceGuangdong Academy of Agricultural SciencesGuangzhou 510640China Key Laboratory of South China Modern Biological Seed Industry Ministry of Agriculture and Rural AffairsGuangzhou 510520China

Dynamic crosstalk between the embryo and mother is crucial during ***,we comprehensively profile the single-cell transcriptome of pig peri-implantation embryos and corresponding maternal endometrium,identifying 4 different lineages in embryos and 13 cell types in the ***-specific gene expression characterizes 4 distinct trophectoderm subpopulations,showing development from undifferentiated trophectoderm to polar and mural *** expression of genes in different types of endometrial cells illustrates their molecular response to embryos during ***,we developed a novel tool,ExtraCellTalk,generating an overall dynamic map of maternal-foetal crosstalk using uterine luminal proteins as *** cross-species comparisons,we identified a conserved RBP4/STRA6 pathway in which embryonic-derived RBP4 could target the STRA6 receptor on stromal cells to regulate the interaction with other endometrial *** results provide insight into the maternal-foetal crosstalk during embryo implantation and represent a valuable resource for further studies to improve embryo implantation.

关键词： endometrial remodeling ExtraCellTalk implantation maternal-foetal crosstalk trophoblast

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CAR-T细胞治疗在儿童中的毒副作用

临床儿科杂志 2024年第4期42卷 361-366页

作者：尹萌萌(综述) 胡群(审校) 华中科技大学同济医学院附属同济医院儿童血液科湖北武汉430030

嵌合抗原受体(CAR)-T细胞因其特异性识别功能及细胞毒性,已成为治疗恶性肿瘤最有前途的方法之一,但它也具有一系列的毒副作用,特别是对儿童,毒性反应发展迅速,严重者还会危及生命。本文对CAR-T细胞治疗在儿童中的毒副作用,及其临床表现... 详细信息

嵌合抗原受体(CAR)-T细胞因其特异性识别功能及细胞毒性,已成为治疗恶性肿瘤最有前途的方法之一,但它也具有一系列的毒副作用,特别是对儿童,毒性反应发展迅速,严重者还会危及生命。本文对CAR-T细胞治疗在儿童中的毒副作用,及其临床表现和治疗等方面进行概述,旨在优化其在儿童中的应用。

关键词：嵌合抗原受体T细胞毒副作用儿童

职业教育产教融合赋能乡村振兴的内在机理与实施路径

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浙江师范大学学报（社会科学版） 2024年第1期49卷 108-116页

作者：胡群高鑫浙江旅游职业学院工商管理学院浙江杭州311231 浙江师范大学教育学院浙江金华321004

职业教育产教融合对乡村振兴具有重要意义。职业教育产教融合的辐射效应、激活效应、联动效应、调节效应,体现了职业教育产教融合赋能乡村振兴的本质认识。职业教育产教融合在目标上促进乡村产业高质量融合发展的农业强国建设;在功能上... 详细信息

职业教育产教融合对乡村振兴具有重要意义。职业教育产教融合的辐射效应、激活效应、联动效应、调节效应,体现了职业教育产教融合赋能乡村振兴的本质认识。职业教育产教融合在目标上促进乡村产业高质量融合发展的农业强国建设;在功能上深化乡村产业结构优化,赋能区域经济协调发展;在行为上满足乡村人才队伍建设的路径选择。职业教育产教融合赋能乡村振兴应搭建跨界融合平台,促进乡村创新发展;构建多元协作机制,促进乡村共生发展;创建理实互动生态,促进乡村现代化发展;营建互惠共生环境,促进乡村持续发展。

关键词：职业教育产教融合乡村振兴内在机理实施路径

基于氟硅混酸制备稀土抛光粉及其抛光性能研究

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中国稀土学报 2024年第2期42卷 261-267,I0003页

作者：范娜陈传东于健飞胡群岳帅军赵思远刘杨包头稀土研究院稀土冶金及功能材料国家工程研究中心内蒙古包头014030

以碳酸镧铈为前驱体,HF酸、氟硅混酸为氟源氟化、高温焙烧、球磨的方法制备含氟铈基稀土抛光粉。采用X射线衍射、扫描电子显微镜、透射电子显微镜、粒度分析仪、激光共聚焦显微镜等检测手段对不同氟源铈基稀土抛光粉进行表征。结果表明... 详细信息

以碳酸镧铈为前驱体,HF酸、氟硅混酸为氟源氟化、高温焙烧、球磨的方法制备含氟铈基稀土抛光粉。采用X射线衍射、扫描电子显微镜、透射电子显微镜、粒度分析仪、激光共聚焦显微镜等检测手段对不同氟源铈基稀土抛光粉进行表征。结果表明,HF酸和氟硅混酸氟化后的铈基稀土抛光粉物相组成相同,均出现CeO_(2),LaOF和LaF_(3)衍射峰;氟化后两种抛光粉的形貌均发生明显变化,HF酸氟化后的抛光粉颗粒成型较好,一次颗粒平均粒径约113nm,氟硅混酸氟化后,出现球形颗粒,一次颗粒平均粒径约90nm,比HF酸氟化的铈基稀土抛光粉粒径小,球形度较好。HF酸和氟硅混酸氟化的铈基稀土抛光粉4次抛光的磨削率基本保持不变,抛光后的K9玻璃250μm×250μm表面粗糙度分别为84.54和81.85nm,两种抛光粉抛光后的表面粗糙度相差较小。

关键词： HF酸氟硅混酸含氟抛光粉抛光性能

A subband excitation substitute based scheme for narrowband speech watermarking

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Frontiers of Information Technology & Electronic Engineering 2017年第5期18卷 627-643页

作者： Wei LIU Ai-qun hu School of lnformation Science and Engineering Southeast UniversityNanjing 210096China

We propose a new narrowband speech watermarking scheme by replacing part of the speech with a scaled and spectrally shaped hidden signal. Theoretically, it is proved that if a small amount of host speech is modified, then not only an ideal channel model for hidden communication can be established, but also high imperceptibility and good intelligibility can be achieved. Furthermore, a practical system implementation is proposed. At the embedder, the power normalization criterion is first imposed on a passband watermark signal by forcing its power level to be the same as the original passband excitation of the cover speech, and a synthesis filter is then used to spectrally shape the scaled watermark signal. At the extractor, a bandpass filter is first used to get rid of the out-of-band signal, and an analysis filter is then employed to compensate for the distortion introduced by the synthesis filter. Experimental results show that the data rate is as high as 400 bits/s with better bandwidth efficiency, and good imperceptibility is achieved. Moreover, this method is robust against various attacks existing in real applications.

关键词： Analysis filter Linear prediction Narrowband speech watermarking Passband excitation replacement Power normalization Spectral envelope shaping Synthesis filter

Effects of temperature-gradient-induced damage of zirconia metering nozzles

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International Journal of Minerals,Metallurgy and Materials 2017年第9期24卷 999-1003页

作者： Liang Zhao qun-hu Xue College of Materials and Mineral Resources Xi’an University of Architecture and TechnologyXi’an 710055China Shaanxi Techno-institute of Recycling Economy Xi’an 710055China

The effects of temperature-gradient-induced damage of zirconia metering nozzles were investigated through analysis of the phase composition and microstructure of nozzle samples. The analysis was carried out using X-ray diffraction and scanning electron microscopy after the samples were subjected to a heat treatment based on the temperatures of the affected, transition, and original layers of zirconia metering nozzles during the continuous casting of steel. The results showed that, after heat treatment at 1540, 1410, or 1300A degrees C for a dwell time of 5 h, the monoclinic zirconia phase was gradually stabilized with increasing heat-treatment temperature. Moreover, a transformation to the cubic zirconia phase occurred, accompanied by grain growth, which illustrates that the temperature gradient in zirconia metering nozzles affects the mineral composition and microstructure of the nozzles and accelerates damage, thereby deteriorating the quality and service life of the nozzles.

关键词： temperature gradient zirconia metering nozzles mineral composition microstructure damage mechanism

一体化旱耕整地泡田模式对稻田还原性物质和机插秧早期生长的影响

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作物学报 2024年第7期50卷 1762-1775页

作者：程爽邢志鹏田超胡群魏海燕张洪程江苏省作物栽培生理重点实验室/江苏省粮食作物现代产业技术协同创新中心/扬州大学水稻产业工程技术研究院扬州大学江苏扬州225009

针对稻麦轮作地区稻田耕整地质量不高以及还原性物质积累不利于机插秧早期生长等问题,探讨了应用一体化旱耕整泡田模式促进机插秧早期高质量生长的可行性。于2021—2022年在江苏省宿迁市泗洪县试验基地设置3种耕整地模式:一体化旱耕整地... 详细信息

针对稻麦轮作地区稻田耕整地质量不高以及还原性物质积累不利于机插秧早期生长等问题,探讨了应用一体化旱耕整泡田模式促进机插秧早期高质量生长的可行性。于2021—2022年在江苏省宿迁市泗洪县试验基地设置3种耕整地模式:一体化旱耕整地+泡田模式(Treatment 1,T1)、旱旋+泡田+水旋整地模式(Treatment 2,T2)、泡田+水旋整地模式(Treatment 3,T3),测定了稻田土壤氧化还原电位、不同土层还原性物质含量和机插稻生长早期根系和地上部性状。结果表明,土壤氧化还原电位以T1最高,在最低点较T2和T3分别提高19.3%~24.7%和31.6%~41.1%。不同耕整地模式显著影响了0~5 cm和5~10 cm土层内还原性物质总量、活性还原性物质、亚铁离子和二价锰离子的含量。其中,相较于T2和T3的均值,T1在0~5 cm和5~10 cm土层内活性还原性物质含量分别降低31.9%~37.6%和22.6%~23.5%,亚铁离子含量分别降低30.5%~40.3%和25.3%~27.3%。这一结果主要与T1显著降低了0~5 cm和5~10 cm土层的土壤容重,并提高了相应土层的土壤总孔隙度有关。机插秧根系性状(总根数、根干重、根系氧化力)和地上生长(茎蘖数、干物质积累量)均以T1最高,T2次之,T3最低。相比较于T2和T3的均值,移栽后30 d条件下T1的总根数增加9.6%~32.9%,根干重增加19.5%~53.8%,根系氧化力增加27.3%~34.7%,茎糵数增加9.0%~15.4%,干物质积累量增加30.7%~44.7%。相关性分析表明,T1条件下机插秧早期的高质量生长主要是由于0~5 cm土层内还原性物质含量的降低,特别是活性还原性物质和亚铁离子含量的显著降低(P<0.05)。综上,在稻麦轮作地区应用一体化旱耕整地泡田模式有助于降低稻田土壤中还原性物质含量,促进机插秧早期高质量生长。

关键词：机插秧耕整地模式还原性物质秧苗生长