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New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

International Journal of Ophthalmology(English edition) 2024年第1期17卷 107-112页

作者： Wen-Chao Cao Qing-Shan Chen Run Gan Tao Huang xiao-he yan The Second Clinical Medical College Jinan UniversityShenzhen 518040Guangdong ProvinceChina Shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChin

AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in ***:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 *** sequence capture array technique was used to screen potential pathologic *** chain reaction and Sanger sequencing were used to confirm the screening ***:Fundus examination showed round macular lesions appeared in both *** coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right *** autofluorescence showed patchy hyper-autofluorescence in the *** field examination indicates central defects in both ***(ERG)and multifocal ERG showed no obvious *** fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left *** found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous *** variants are likely pathogenic according to the ACMG *** imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal ***:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.

关键词： maculopathy recessive compound heterozygous variants RP1L1

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GATA binding protein 2 mediated ankyrin repeat domain containing 26 high expression in myeloid-derived cell lines

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World Journal of Stem Cells 2024年第5期16卷 538-550页

作者： yang-Zhou Jiang Lan-Yue Hu Mao-Shan Chen xiao-Jie Wang Cheng-Ning Tan Pei-Pei Xue Teng Yu xiao-yan he Li-Xin Xiang yan-Ni xiao xiao-Liang Li Qian Ran Zhong-Jun Li Li Chen Laboratory of Radiation Biology Department of Blood TransfusionLaboratory Medicine CenterThe Second Affiliated HospitalThird Military Medical UniversityChongqing 400037China hematopoietic Acute Radiation Syndrome Medical and Pharmaceutical Basic Research Innovation Center Ministry of Education of the People’s Republic of ChinaChongqing 400037China

BACKGROUND Thrombocytopenia 2,an autosomal dominant inherited disease characterized by moderate thrombocytopenia,predisposition to myeloid malignancies and normal platelet size and function,can be caused by 5’-untranslated region(UTR)point mutations in ankyrin repeat domain containing 26(ANKRD26).Runt related transcription factor 1(RUNX1)and friend leukemia integration 1(FLI1)have been identified as negative regulators of ***,the positive regulators of ANKRD26 are still *** To prove the positive regulatory effect of GATA binding protein 2(GATA2)on ANKRD26 *** Human induced pluripotent stem cells derived from bone marrow(hiPSC-BM)INTRODUCTION Ankyrin repeat domain containing protein 26(ANKRD26)acts as a regulator of adipogenesis and is involved in the regulation of feeding behavior[1-3].The ANKRD26 gene is located on chromosome 10 and shares regions of homology with the primate-specific gene family *** to the Human Protein Atlas database,the ANKRD26 protein is localized to the Golgi apparatus and vesicles,and its expression can be detected in nearly all human tissues[4].Moreover,UniProt annotation revealed that ANKRD26 is localized in the centrosome and contains coiled-coil domains formed by spectrin helices and ankyrin repeats[5,6].The most common disease related to ANKRD26 is thrombocytopenia 2(THC2),which is a rare autosomal dominant inherited disease characterized by lifelong mild-to-moderate thrombocytopenia and mild bleeding[7-9].Caused by the variants in the 5’-untranslated region(UTR)of ANKRD26,THC2 is defined by a decrease in the number of platelets in circulating blood and results in increased bleeding and decreased clotting ability[8,10].Due to the point mutations that occur in the 5’-UTR of ANKRD26,its negative transcription factors(TFs),Runt related transcription factor 1(RUNX1)and friend leukemia integration 1(FLI1),lose their repression effect[11].The persistent expression of ANKRD26 increases the activi

关键词： Ankyrin repeat domain containing 26 GATA binding protein 2 Thrombocytopenia 2 Transcriptional regulation Myeloid-derived cell lines

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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

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感染相关性自身免疫性脑炎临床特征分析

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中国现代神经疾病杂志 2024年第4期24卷 208-216页

作者：何晓燕王姗姗李红燕新疆维吾尔自治区人民医院神经内科新疆脑卒中与神经系统罕见病临床医学研究中心乌鲁木齐830001

目的总结新疆地区不同抗体类型感染相关性自身免疫性脑炎的临床特征,并探讨相关实验室指标的诊断价值。方法共纳入2018年1月至2023年10月新疆维吾尔自治区人民医院诊断与治疗的47例感染相关性自身免疫性脑炎患者,包括抗富亮氨酸胶质瘤... 详细信息

目的总结新疆地区不同抗体类型感染相关性自身免疫性脑炎的临床特征,并探讨相关实验室指标的诊断价值。方法共纳入2018年1月至2023年10月新疆维吾尔自治区人民医院诊断与治疗的47例感染相关性自身免疫性脑炎患者,包括抗富亮氨酸胶质瘤失活蛋白1(LGI1)抗体相关脑炎18例(38.30%)、抗N-甲基-D-天冬氨酸受体(NMDAR)脑炎16例(34.04%)、抗髓鞘少突胶质细胞糖蛋白(MOG)抗体相关脑炎8例(17.02%)、抗γ-氨基丁酸B型受体(GABABR)脑炎5例(10.64%),采集社会人口学资料、临床表现、实验室及其他辅助检查结果,绘制受试者工作特征(ROC)曲线以评价相关实验室指标对不同抗体类型感染相关性自身免疫性脑炎的诊断价值。结果抗LGI1抗体相关脑炎、抗NMDAR脑炎、抗MOG抗体相关脑炎、抗GABABR脑炎患者发病年龄(χ^(2)=9.500,P=0.023),肌无力(χ^(2)=9.967,P=0.019)、视力下降(χ^(2)=9.967,P=0.019)和癫痫发作(χ^(2)=8.046,P=0.045),脑脊液白细胞计数(χ^(2)=15.237,P=0.002)和氯化物(F=4.156,P=0.011)差异具有统计学意义,其中,抗LGI1抗体相关脑炎患者发病年龄晚于抗NMDAR脑炎(Z=-2.384,P=0.017)和抗MOG抗体相关脑炎(Z=-2.420,P=0.016)患者,抗NMDAR脑炎患者脑脊液白细胞计数高于抗LGI1抗体相关脑炎(Z=-3.307,P=0.001)和抗MOG抗体相关脑炎(Z=-2.835,P=0.005)患者,抗NMDAR脑炎(t=3.159,P=0.007)和抗GABABR脑炎(t=-4.592,P=0.007)患者脑脊液氯化物高于抗LGI1抗体相关脑炎患者。ROC曲线显示,发病年龄诊断抗LGI1抗体相关脑炎的曲线下面积为0.722(95%CI:0.569~0.875,P=0.012),灵敏度为0.556、特异度为0.821,截断值为54.50岁。脑脊液白细胞计数诊断抗LGI1抗体相关脑炎的曲线下面积为0.706(95%CI:0.558~0.855,P=0.019),灵敏度为0.889、特异度为0.571,截断值为4.50×10^(6)/L;诊断抗NMDAR脑炎的曲线下面积为0.790(95%CI:0.643~0.937,P=0.002),灵敏度为0.600、特异度为0.967,截断值为13.50×10^(6)/L。脑脊液氯化物诊断抗LGI1抗体相关脑炎的曲线下面积为0.748(95%CI:0.598~0.898,P=0.005),灵敏度为0.722、特异度为0.714,截断值为122.70 mmol/L。结论新疆地区不同抗体类型感染相关性自身免疫性脑炎具有特定的临床特征,发病年龄、脑脊液白细胞计数和氯化物对抗LGI1抗体相关脑炎具有良好的诊断价值,脑脊液白细胞计数对抗NMDAR脑炎具有良好的诊断价值。

关键词：脑炎神经系统自身免疫疾病 ROC曲线新疆维吾尔自治区

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泄水孔堵塞对格构锚杆支护边坡的稳定性影响研究

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价值工程 2024年第28期43卷 76-78页

作者：何小艳郭辉四川川西投资管理有限责任公司四川省公路规划勘察设计研究院有限公司

边坡施工或运营期间常因多种因素作用导致排水孔堵塞，从而抬升地下水位，影响边坡稳定性和支护结构的安全。采用以板代孔法模拟排水孔，重点研究了格构锚杆支护形式下排水孔不同堵塞程度后边坡地下水位变化规律、支护结构力学响应以及... 详细信息

边坡施工或运营期间常因多种因素作用导致排水孔堵塞，从而抬升地下水位，影响边坡稳定性和支护结构的安全。采用以板代孔法模拟排水孔，重点研究了格构锚杆支护形式下排水孔不同堵塞程度后边坡地下水位变化规律、支护结构力学响应以及边坡安全系数。计算结果表明：排水孔堵塞对坡后地下水位影响显著，格构锚杆支护的边坡地下水位随堵塞程度呈线性增加，堵塞程度超过20%时，水位显著升高；锚杆轴力随堵塞程度增加近似呈线性增长，最大增长幅度达到40%；堵塞程度超过60%后，边坡安全系数显著降低。研究成果有助于指导高边坡支护形式设计的选择。

关键词：边坡泄水孔以板代孔法安全系数

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颅内多发动脉瘤长期随访一例

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中国现代神经疾病杂志 2024年第8期24卷 689-694页

作者：王时强何小燕耿涛彭昌兴贵州省黔西南州人民医院神经外科兴义562400

患者女性,50岁,因头痛、呕吐1小时,于2014年2月15日16∶00入院。患者1小时前无明显诱因出现搏动性头痛,以左侧眼眶周围疼痛为主,伴恶心、非喷射状呕吐胃内容物数次(约300 ml),无呕血、咖啡样物,无偏瘫、偏盲、失语、复视、大小便失禁等... 详细信息

患者女性,50岁,因头痛、呕吐1小时,于2014年2月15日16∶00入院。患者1小时前无明显诱因出现搏动性头痛,以左侧眼眶周围疼痛为主,伴恶心、非喷射状呕吐胃内容物数次(约300 ml),无呕血、咖啡样物,无偏瘫、偏盲、失语、复视、大小便失禁等,急诊至我院,头部CT显示蛛网膜下腔出血,收入神经外科。患者否认合并高血压、糖尿病、冠心病,否认细菌性痢疾、结核、肝炎、伤寒等传染性疾病病史,否认手术、输血、外伤史,否认药物、食物过敏史,预防接种史不详;否认吸烟、饮酒、药物嗜好,否认工业毒物、粉尘及放射性物质接触史,否认治游史;家族中无类似疾病及遗传性疾病病史。

关键词：颅内动脉瘤栓塞治疗性复发随访研究病例报告

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数字法治政府建设的价值、困境与对策

河北法律职业教育

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河北法律职业教育 2024年第7期2卷 90-93页

作者：石涛何晓燕湖南师范大学法学院湖南省新化县检察院

数字法治政府建设作为治理方式的变革,旨在回应信息革命背景下的政府职能转变与数字化转型需求,推进治理体系建立健全。数字法治政府并不是数字政府和法治政府的相加,而是集法治政府的数字化、数字政府的法治化和数字法治中的政府主导... 详细信息

数字法治政府建设作为治理方式的变革,旨在回应信息革命背景下的政府职能转变与数字化转型需求,推进治理体系建立健全。数字法治政府并不是数字政府和法治政府的相加,而是集法治政府的数字化、数字政府的法治化和数字法治中的政府主导等聚合的概念。数字法治政府建设过程中具有目标异化、数据共享不畅、安全风险泛化等问题。实现数字法治政府建设的发展,有必要从数字法治价值、数据开放共享和安全保障的视角出发采取相应措施,促使数字法治政府建设向纵深推进。

关键词：数字法治政府数字法治数字化转型

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Experimental study on the effects of sediment size and porosity on contaminant adsorption/desorption and interfacial diffusion characteristics

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Journal of Hydrodynamics 2013年第1期25卷 20-26页

作者： FAN Jing-yu he xiao-yan WANG Dao-zeng Shanghai Institute of Applied Mathematics and Mechanics Shanghai University

The joint effects of the sediment size and porosity on the contaminant adsorption/desorption and interfacial diffusion characteristics were experimentally investigated. The adsorption of Phosphorus （P） on the natural and artificial sediment suspensions was measured with respect to the P adsorption isotherms and kinetics in the experiment. The obtained adsorption isotherms for different grain-sized sediment suspensions fit well with the Langmuir equation, dependent on the initial aqueous concentration and sediment content. The P kinetic adsorption behaviors for cohesive fine-grained and non-cohesive coarse-grained sediment suspensions clearly show the size-dependent feature. On the other hand, the P kinetic release feature of a porous sediment layer is affected by not only the direct desorption of the uppermost sediments, but also the diffusivity in the pore-water within the underlying sediment layer, characterized by the sediment size and porosity, respectively. Furthermore, the temporal contaminant release from the permeable sediment layer into the overlying water column increases with the increasing flow velocity, while this enhancement in mediating the interfacial diffusion flux is somewhat insignificant in an immediate release stage, largely due to the resistance of the diffusive boundary layer on the hydrodynamic disturbance.

关键词： sediment contaminant adsorption desorption interfacial diffusion

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青少年生命敬畏感问卷的编制及信效度检验

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中国临床心理学杂志 2024年第3期32卷 575-581页

作者：林荣茂沈逸琳林可心陈艳萍谢涵颖何晓雁熊夏昕福建师范大学心理学院福州350117 赣南师范大学新闻与传播学院赣州341000 荷兰格罗宁根大学社会心理学系荷兰9712 TS 福州工商学院福州350715 福建技术师范学院教育学院福清350300

目的:编制青少年生命敬畏感问卷并检验其信效度。方法:通过访谈并结合国内已有的相关测量工具编制初始问卷,以187名青少年为被试对问卷进行项目分析和探索性因素分析,以1000名青少年为被试对问卷进行验证性因素分析和信效度检验,最终得... 详细信息

目的:编制青少年生命敬畏感问卷并检验其信效度。方法:通过访谈并结合国内已有的相关测量工具编制初始问卷,以187名青少年为被试对问卷进行项目分析和探索性因素分析,以1000名青少年为被试对问卷进行验证性因素分析和信效度检验,最终得到正式问卷。结果:青少年生命敬畏感正式问卷共12个项目,包括生命敬重感、死亡畏惧感及生命意义超越3个维度。总问卷Cronbach’sα系数为0.78,合成信度为0.90,重测信度(4周后)为0.71。问卷具有良好的结构效度、聚合效度、区分效度和效标关联效度。问卷满足跨性别和跨年级的尺度测量等值性。结论:青少年生命敬畏感问卷信效度良好,可用于相关研究。

关键词：生命敬畏感青少年问卷编制信度效度

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Rhombencephalitis caused by Listeria monocytogenes with hydrocephalus and intracranial hemorrhage:A case report and review of the literature

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World Journal of Clinical Cases 2019年第4期7卷 538-547页

作者： Jing-Jing Liang xiao-yan he Hong Ye Department of Neurology Wuhan University Renmin Hospital Department of Neurology Shijiazhuang Second Hospital Department of Neurology Xuanwu Hospital Capital Medical University

BACKGROUND Listeria monocytogenes(L. monocytogenes), a Gram-positive facultatively intracellular bacterium, is the causative agent of human listeriosis. Listeria infection is usually found in immunocompromised patients, including elderly people, pregnant women, and newborns, whereas it is rare in healthy people. *** may cause meningitis, meningoencephalitis, and some very rare and severe complications, such as hydrocephalus and intracranial hemorrhage,which cause high mortality and morbidity worldwide. Up to now, reports on hydrocephalus and intracranial hemorrhage due to L. monocytogenes are *** SUMMARY We herein report a case of rhombencephalitis caused by L. monocytogenes in a 29-year-old man. he was admitted to the hospital with a 2-d history of headache and fever. he consumed unpasteurized cooked beef two days before *** medical history included type 2 diabetes mellitus, and contaminated beef intake 2 d before onset. Cerebrospinal fluid analysis revealed Gram-positive rod infection, and blood culture was positive for L. monocytogenes. Magnetic resonance imaging findings suggested rhombencephalitis and *** was started empirically and then modified according to the blood culture results. Repeated CT images were suggestive of intracranial *** the patient underwent aggressive external ventricular drainage, he died of a continuing deterioration of intracranial *** Hydrocephalus, intracranial hemorrhage, and inappropriate antimicrobial treatment are the determinations of unfavorable outcomes.

关键词： Rhombencephalitis Listeria monocytogenes Central nervous system infections Hydrocephalus Intracranial hemorrhage Case report

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