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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

Identifying the dynamic behaviors in complete reconstruction of Co-based complex precatalysts during electrocatalytic oxygen evolution

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Journal of Energy Chemistry 2025年第1期100卷 226-233页

作者： Jingfang Zhang Danyang Wu Linke Cai Youluan Lu Fanpeng Cheng Lijuan Shi qun yi Yao Liu yi huang Key Laboratory of Green Chemical Engineering Process of Ministry of Education Engineering Research Center of Phosphorus Resources Development and Utilization of Ministry of Education Hubei Key Laboratory of Novel Reactor and Green Chemical Technology School of Chemical Engineering & Pharmacy Wuhan Institute of Technology Key Laboratory of Pesticide & Chemical Biology of Ministry of Education Engineering Research Center of Photoenergy Utilization for Pollution Control and Carbon Reduction of Ministry of Education College of Chemistry Central China Normal University College of Materials Science and Engineering Fuzhou University

Transition metal-based nanomaterials have emerged as promising electrocatalysts for oxygen evolution reaction（OER）. Considerable research efforts have shown that self-reconstruction occurs on these nanomaterials under operating conditions of OER process. However, most of them undergo incomplete reconstruction with limited thickness of reconstruction layer, leading to low component utilization and arduous exploration of real catalytic mechanism. Herein, we identify the dynamic behaviors in complete reconstruction of Co-based complexes during OER. The hollow phytic acid（PA） cross-linked CoFe-based complex nanoboxes with porous nanowalls are designed because of their good electrolyte penetration and mass transport ability, in favor of the fast and complete reconstruction. A series of experiment characterizations demonstrate that the reconstruction process includes the fast substitution of PA by OH-to form Co（Fe）(OH)xand subsequent potential-driven oxidation to Co（Fe）OOH. The obtained CoFeOOH delivers a low overpotential of 290 mV at a current density of 10 mA cm-2and a long-term *** experiment results together with theory calculations reveal that the Fe incorporation can result in the electron rearrangement of reconstructed CoFeOOH and optimization of their electronic structure,accounting for the enhanced OER activity. The work provides new insights into complete reconstruction of metal-based complexes during OER and offers guidelines for rational design of high-performance electrocatalysts.

关键词： Oxygen evolution reaction

Primary exploration of the application of case based learning method in clinical probation teaching of the integrated curriculum of hematology

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Medical Bulletin of Shanghai Jiaotong University 2015年第2期27卷 160-164,168页

作者： Zi-zhen XU Ye-fei WANG Yan WANG Shu CHENG yi-qun hu Lei DING Department of Laboratory Medicine Ruijin HospitalShanghai Jiao Tong University School of Medicine Department of Hematology Ruijin HospitalShanghai Jiao Tong University School of Medicine

Objective To explore the application and the effect of the case based learning(CBL)method in clinical probation teaching of the integrated curriculum of hematology among eight-year-program medical *** The CBL method was applied to the experimental group,and the traditional approach for the control *** the lecture,a questionnaire survey was conducted to evaluate the teaching effect in the two *** The CBL method efficiently increased the students’interest in learning and autonomous learning ability,enhanced their ability to solve clinical problems with basic theoretic knowledge and cultivated their clinical thinking *** The CBL method can improve the quality of clinical probation teaching of the integrated curriculum of hematology among eight-year-program medical students.

关键词： case based learning integrated curriculum clinical probation of hematology teaching method

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脂质沉积性肌病伴胰腺广泛钙化1例

世界华人消化杂志 2009年第2期17卷 225-227页

作者：胡益群任建林厦门大学附属中山医院消化内科厦门大学消化疾病研究所厦门市消化疾病诊治中心福建省厦门市361004

脂质沉积性肌病为神经内科相对常见疾病,但表现非常不特异,容易误诊为风湿免疫类疾病如皮肌炎等,胰腺广泛钙化多为消化内科疾病慢性胰腺炎等并发症,脂质沉积性肌病合并胰腺广泛钙化的病例临床尚未见报道,病因不详.本文就1例脂质沉积性... 详细信息

脂质沉积性肌病为神经内科相对常见疾病,但表现非常不特异,容易误诊为风湿免疫类疾病如皮肌炎等,胰腺广泛钙化多为消化内科疾病慢性胰腺炎等并发症,脂质沉积性肌病合并胰腺广泛钙化的病例临床尚未见报道,病因不详.本文就1例脂质沉积性肌病伴广泛胰腺钙化进行分析讨论,以期加深消化内科、风湿科和神经内科医师对此类疾病的认识,减少误诊或漏诊.

关键词：脂质沉积性肌病胰腺钙化皮肌炎

Repetitive transcranial magnetic stimulation in Alzheimer’s disease:effects on neural and synaptic rehabilitation

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Neural Regeneration Research 2025年第2期20卷 326-342页

作者： yi Ji Chaoyi Yang Xuerui Pang yibing Yan Yue Wu Zhi Geng Wenjie hu Panpan hu Xingqi Wu Kai Wang Department of Neurology The First Affiliated Hospital of Anhui Medical UniversityHefeiAnhui ProvinceChina Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders HefeiAnhui ProvinceChina Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health HefeiAnhui ProvinceChina Institute of Artificial Intelligence Hefei Comprehensive National Science CenterHefeiAnhui ProvinceChina Department of Psychology and Sleep Medicine The Second Affiliated Hospital of Anhui Medical UniversityHefeiAnhui ProvinceChina

Alzheimer’s disease is a neurodegenerative disease resulting from deficits in synaptic transmission and *** Alzheimer’s disease brain tends to be hyperexcitable and hypersynchronized,thereby causing neurodegeneration and ultimately disrupting the operational abilities in daily life,leaving patients *** transcranial magnetic stimulation is a cost-effective,neuro-modulatory technique used for multiple neurological *** the past two decades,it has been widely used to predict cognitive decline;identify pathophysiological markers;promote neuroplasticity;and assess brain excitability,plasticity,and *** has also been applied to patients with dementia,because it can yield facilitatory effects on cognition and promote brain recovery after a neurological ***,its therapeutic effectiveness at the molecular and synaptic levels has not been elucidated because of a limited number of *** study aimed to characterize the neurobiological changes following repetitive transcranial magnetic stimulation treatment,evaluate its effects on synaptic plasticity,and identify the associated *** review essentially focuses on changes in the pathology,amyloidogenesis,and clearance pathways,given that amyloid deposition is a major hypothesis in the pathogenesis of Alzheimer’s *** mechanisms associated with repetitive transcranial magnetic stimulation procedures and different pathways mediating gene transcription,which are closely related to the neural regeneration process,are also ***,we discuss the outcomes of animal studies in which neuroplasticity is modulated and assessed at the structural and functional levels by using repetitive transcranial magnetic stimulation,with the aim to highlight future directions for better clinical translations.

关键词： Alzheimer’s disease amyloid deposition apoptotic mechanisms biomarker neural regeneration neurodegeneration repetitive transcranial magnetic stimulation synaptic plasticity

PDT联合玻璃体腔注射Avastin治疗病理性近视CNV

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国际眼科杂志 2012年第6期12卷 1063-1065页

作者：胡忆群陈青山方敏杨旭暨南大学附属深圳市眼科医院中国广东省深圳市518001

目的:观察光动力疗法(photodynamic therapy,PDT)联合玻璃体腔注射Avastin治疗并发脉络膜新生血管(choroidal neovascularization,CNV)的病理性近视(pathologic myopia,PM)的安全性和临床疗效。方法:并发黄斑中心凹下CNV的PM患者17例17眼纳入治疗。PDT按照国际标准进行。3d后在表面麻醉下给予1.5mg Avastin玻璃体腔注射。治疗后第1,3,6,12mo各随访1次,随访时间为6～16mo。复查视力、眼压、眼底检查、眼底彩照、FFA、OCT。治疗前、后对比行配对样本t检验统计分析,P0.05)。FFA检查显示:10眼CNV完全闭合,占58.82%,其余7眼CNV大部分闭合,占41.18%。CMT:术前平均为:194.67±12.74μm,术后平均为:132.07±8.32μm,差别有统计学意义(P<0.01)。结论:PDT联合玻璃体腔注射Avastin治疗并发CNV的PM安全有效,使CNV渗漏停止或减轻,视网膜水肿消退或减轻,但不同年龄的患者视力预后差别大,老年患者视力预后差,可能与其本身的进行性脉络膜视网膜萎缩有关。但尚需进一步大样本的临床随机对照研究来证实。

关键词： Avastin 光动力疗法脉络膜新生血管病理性近视

早期原发性闭角型青光眼合并白内障的手术治疗

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国际眼科杂志 2012年第5期12卷 926-927页

作者：方敏胡忆群陈聪玲成洪波中国广东省深圳市眼科医院 518000

目的:研究白内障超声乳化联合后房型人工晶状体植入术在合并白内障的早期原发性闭角型青光眼的应用安全性和有效性。方法:将合并白内障的早期原发性闭角型青光眼患者随机分为两组,一组行激光周边虹膜切开术(周切组),另一组行超声乳化白... 详细信息

目的:研究白内障超声乳化联合后房型人工晶状体植入术在合并白内障的早期原发性闭角型青光眼的应用安全性和有效性。方法:将合并白内障的早期原发性闭角型青光眼患者随机分为两组,一组行激光周边虹膜切开术(周切组),另一组行超声乳化白内障摘除联合后房型人工晶状体植入术(超声乳化组);分析治疗前后的眼前段结构的变化,比较治疗前后视力及眼压;随访时间为3mo。结果:激光组及超声乳化组的患者在治疗后都发生不同程度的周边前房加深、房角加宽;而激光组术后视力无提高、前房轴深较术前无变化,少部分房角加宽不明显。超声乳化组术后视力明显提高、前房轴深加深,房角均加宽,已经粘连关闭的房角也部分重新开放。结论:超声乳化白内障摘除联合后房型人工晶状体植入术在合并白内障的早期原发性闭角型青光眼的应用安全,能有效控制青光眼的发生及发展,对于虹膜高褶构型的患者同样有效,同时能改善视力。

关键词：青光眼闭角型白内障超声乳化

玻璃体腔注射Avastin联合黄斑格栅样光凝治疗DME的临床观察

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国际眼科杂志 2012年第1期12卷 36-38页

作者：胡忆群陈青山方敏佘洁婷杨旭暨南大学附属深圳市眼科医院中国广东省深圳市518001

目的:观察玻璃体腔注射avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿(diabetic macular edema,DME)的效果。方法:经眼底荧光造影(FFA)及相干光断层扫描(OCT)确诊为糖尿病黄斑水肿的患者21例29眼,给予玻璃体腔注射avastin1.5mg后1wk行... 详细信息

目的:观察玻璃体腔注射avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿(diabetic macular edema,DME)的效果。方法:经眼底荧光造影(FFA)及相干光断层扫描(OCT)确诊为糖尿病黄斑水肿的患者21例29眼,给予玻璃体腔注射avastin1.5mg后1wk行黄斑格栅样光凝。所有患者治疗前及治疗后1,3,6,12mo均行眼底、最佳矫正视力(best corrected visual acuity,BCVA)、OCT检查,随访时间6～12mo。结果:末次随访时,自觉症状(包括视物变形、中心暗影)消失或改善者24眼(83%),不变者5眼(17%)。视力提高2行以上者21眼(72%),视力提高1～2行者6眼(21%),视力不变者2眼(7%),无视力下降者。其中,术前BCVA:0.05～0.3(logMAR值:平均0.66±0.19),术后BCVA:0.05～0.8(logMAR值:平均0.31±0.18)(P0.05)。OCT检查示25眼黄斑水肿明显改善(86%),其中减少30%以上者20眼(69%),减少29%～10%者7眼(24%),减少10%以下者2眼(7%)。黄斑中心凹视网膜厚度:术前平均为:450.72±74.22μm,术后平均为:283.55±44.43μm(P<0.01)。结论:玻璃体腔注射avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿疗效显著,可明显提高视力,消除或改善黄斑水肿。但尚需进一步大样本的临床随机对照研究来证实。

关键词： Avastin 黄斑格栅样光凝糖尿病黄斑水肿

Avastin联合黄斑格栅样光凝治疗DME的视力预后的多因素分析

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国际眼科杂志 2012年第5期12卷 935-937页

作者：胡忆群陈青山方敏佘洁婷杨旭暨南大学附属深圳市眼科医院中国广东省深圳市518001

目的:探讨影响玻璃体腔注射Avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿(diabetic macular edema,DME)后患者视力的相关因素。方法:回顾性分析Avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿患者41例41眼。运用SPSS14.0分析患者性别、... 详细信息

目的:探讨影响玻璃体腔注射Avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿(diabetic macular edema,DME)后患者视力的相关因素。方法:回顾性分析Avastin联合黄斑格栅样光凝治疗糖尿病黄斑水肿患者41例41眼。运用SPSS14.0分析患者性别、年龄、病程、治疗前最佳矫正视力(BCVA)、治疗前黄斑中心凹视网膜厚度(CMT)、DME类型、治疗后CMT变化、黄斑中心凹下有无大片硬性渗出与治疗后BCVA之间的相关性。结果:在治疗后1mo时,BCVA与病程、治疗前BCVA、黄斑水肿减轻程度及黄斑中心凹下是否有大片硬性渗出相关(P<0.05)。结论:选择术前视力较好、病程短、黄斑中心凹下无大片硬性渗出的患者经联合治疗后可获得较好的视力。

关键词： Avastin 黄斑格栅样光凝糖尿病黄斑水肿多因素分析