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Efficient RT-QuIC seeding activity for α-synuclein in olfactory mucosa samples of patients with Parkinson’s disease and multiple system atrophy

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Translational Neurodegeneration 2019年第1期8卷 290-303页

作者： Chiara Maria Giulia De Luca Antonio Emanuele Elia Sara Maria Portaleone Federico Angelo Cazzaniga Martina Rossi Edoardo Bistaffa Elena De Cecco Joanna Narkiewicz Giulia Salzano Olga Carletta Luigi Romito Grazia Devigili Paola Soliveri Pietro Tiraboschi Giuseppe Legname Fabrizio Tagliavini Roberto Eleopra Giorgio Giaccone Fabio Moda Fondazione IRCCS Istituto Neurologico Carlo Besta Unit of Neurology 5 and NeuropathologyMilanItaly Fondazione IRCCS Istituto Neurologico Carlo Besta Unit of Neurology I-Parkinson and Movement Disorders UnitMilanItaly Department of Health Sciences Universitàdegli Studi di MilanoOtolaryngology UnitSan Paolo HospitalMilanItaly Department of Neuroscience Scuola Internazionale Superiore di Studi Avanzati(SISSA)Laboratory of Prion BiologyTriesteItaly Fondazione IRCCS Istituto Neurologico Carlo Besta Scientific DirectorateMilanItaly

Background:Parkinson’s disease(PD)is a neurodegenerative disorder whose diagnosis is often challenging because symptoms may overlap with neurodegenerative *** is characterized by intraneuronal accumulation of abnormalα-synuclein in brainstem while neurodegenerative parkinsonisms might be associated with accumulation of eitherα-synuclein,as in the case of Multiple System Atrophy(MSA)or tau,as in the case of Corticobasal Degeneration(CBD)and Progressive Supranuclear Palsy(PSP),in other disease-specific brain *** diagnosis of all these diseases can be formulated only neuropathologically by detection and localization ofα-synuclein or tau aggregates in the *** evidence suggests that trace-amount of these proteins can appear in peripheral tissues,including receptor neurons of the olfactory mucosa(OM).Methods:We have set and standardized the experimental conditions to extend the ultrasensitive Real Time Quaking Induced Conversion(RT-QuIC)assay for OM *** particular,by using human recombinantα-synuclein as substrate of reaction,we have assessed the ability of OM collected from patients with clinical diagnoses of PD and MSA to induceα-synuclein aggregation,and compared their seeding ability to that of OM samples collected from patients with clinical diagnoses of CBD and ***:Our results showed that a significant percentage of MSA and PD samples inducedα-synuclein aggregation with high efficiency,but also few samples of patients with the clinical diagnosis of CBD and PSP caused the same ***,the final RT-QuIC aggregates obtained from MSA and PD samples owned peculiar biochemical and morphological features potentially enabling their ***:Our study provide the proof-of-concept that olfactory mucosa samples collected from patients with PD and MSA possess important seeding activities forα-*** studies are required for(i)estimating sensitivity and specificity of the technique and

关键词： RT-QuIC Olfactory mucosa Parkinson’s disease Neurodegenerative parkinsonisms α-Synuclein

Viscosity in water from first-principles and deep-neural-network simulations

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npj Computational Materials 2022年第1期8卷 1318-1327页

作者： Cesare Malosso Linfeng Zhang Roberto Car Stefano Baroni Davide Tisi SISSA—Scuola internazionale Superiore di Studi Avanzati 34136TriesteItaly Program in Applied and Computational Mathematics Princeton UniversityPrincetonNJ08544USA DP Technology Beijing100080PR China Department of Chemistry Department of Physicsand Princeton Institute for the Science and Technology of MaterialsPrinceton UniversityPrincetonNJUSA CNR Istituto Officina dei Materiali SISSA Unit34136TriesteItaly

We report on an extensive study of the viscosity of liquid water at near-ambient conditions,performed within the Green-Kubo theory of linear response and equilibrium ab initio molecular dynamics(AIMD),based on density-functional theory(DFT).In order to cope with the long simulation times necessary to achieve an acceptable statistical accuracy,our ab initio approach is enhanced with deep-neural-network potentials(NNP).This approach is first validated against AIMD results,obtained by using the Perdew–Burke–Ernzerhof(PBE)exchange-correlation functional and paying careful attention to crucial,yet often overlooked,aspects of the statistical data ***,we train a second NNP to a dataset generated from the Strongly Constrained and Appropriately Normed(SCAN)*** the error resulting from the imperfect prediction of the melting line is offset by referring the simulated temperature to the theoretical melting one,our SCAN predictions of the shear viscosity of water are in very good agreement with experiments.

关键词： viscosity Strongly ambient

Descemet stripping automated endothelial keratoplasty in phakic eyes:incision modification reducing cataract formation

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International Journal of Ophthalmology(English edition) 2018年第1期11卷 53-57页

作者： Jacqueline Beltz Silvana Madi Yoav Nahum Paolo Santorum Massimo Busin Department of Ophthalmology Villa Igea Private HospitalForli 47122Italy Istituto internazionale per la Ricerca e Formazione in Of talmologia(IRFO) Forli 47122Italy Department of Morphology Surgery and ExperimentalSurgeryUniversity of FerraraFerrara 44100Italy Centre for Eye Research Australia Royal Victorian Eye and Ear HospitalMelbourne 3002Australia Department of Ophthalmology Alexandria University HospitalAlexandria 21527Egypt Department of Ophthalmology Rabin Medical CenterPetahTikva 49100Israel Sackler Faculty of Medicine Tel Aviv UniversityTel Aviv 69978Israel Department of Ophthalmology San Maurizio Regional HospitalBolzano 39100Italy

AIM： To evaluate the efficacy of a technical modification to reduce the incidence of traumatic cataract induced by Descemet stripping automated endothelial keratoplasty（DSAEK） performed in phakic eyes. METHODS： A retrospective cohort study. The records of all patients with a clear crystalline lens and endothelial failure that underwent modified DSAEK at our insitution were reviewed. In this modification, in order to avoid inadvertent touch of the insertion forceps against the exposed crystalline lens while passing across the anterior chamber, the incision sites were shifted from the standard 9 and 3 o＇clock positions, superiorly to the 10 and 2 o＇clock position respectively. Formation of typically traumatic, anterior subcapsular cataract in these patients was compared to that observed in a cohort including all the patients with a clear crystalline lens and endothelial failure that underwent conventional DSAEK at our ***： The study group included 49 eyes following modified DSAEK and the control group included 35 eyes following DSAEK with conventional incision sites. Anterior subcapsular cataract occurring 4 mo or less postoperatively was identified in 2 of 49（4%） eyes in the study group and 7 of 35（20%） eyes in the control group. The rates of traumatic cataract were significantly higher in the control group in comparison to the study group（P=0.03, RR=4.9, 95%CI 1.08-22.1）.CONCLUSION： Traumatic cataract formation following phakic DSAEK may be avoided with a simple modification to the position of the incision sites.

关键词： cornea Descemet stripping automated endothelial keratoplasty cataract lamellar keratoplasty

海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症的基因突变

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海南医学院学报 2003年第1期9卷 4-7页

作者：蔡望伟周代锋蔡兰洁邝宇周玉英 Filosa Stefania Martini Giuseppe 海南医学院生物化学教研室海口571101 Istituto internazionale di Genetica e Biofisica

目的:阐明海南汉族、黎族人群中葡萄糖-6-磷酸脱氢酶缺乏症的分子基础。方法:用聚合酶链反应、限制性内切酶消化筛查了1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G、487G→A、392G→T和95A→G突变;用单链构象... 详细信息

目的:阐明海南汉族、黎族人群中葡萄糖-6-磷酸脱氢酶缺乏症的分子基础。方法:用聚合酶链反应、限制性内切酶消化筛查了1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G、487G→A、392G→T和95A→G突变;用单链构象多态性分析筛查其它突变;用核苷酸顺序分析鉴定具有SSCP异常区带样品的突变。结果:在59例汉族G6PD缺乏症患者中,发现1388G→A14例(23.7%)、1376G→T19例(32.2%)、871G→A3例(5.1%)、835A→T1例(1.7%)、517T→C1例(1.7%)、392G→T3例(5.1%)、95A→G4例(6.8%);在32例黎族G6PD缺乏症患者中,发现1388G→A6例(18.8%)、1376G→T18例(56.2%)、871G→A3例(9.4%)、95A→G2例(6.3%);结论:海南汉族、黎族人群中具有共同的常见G6PD基因突变型,提示一些G6PD基因突变是中国南方人群的遗传特征。

关键词：葡萄糖-6-磷酸脱氢酶葡萄糖-6-磷酸脱氢酶缺乏症聚合酶链反应黎族汉族

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一种新的G6PD基因突变型的鉴定

海南医学院学报 2003年第1期9卷 1-3,7页

作者：蔡望伟周代锋蔡兰洁邝宇周玉英 Filosa Stefania Martini Giuseppe 海南医学院生物化学教研室海口571101 Istituto internazionale di Genetica e Biofisica

目的:鉴定1例葡萄糖-6-磷酸脱氢酶缺乏症患者的基因突变。方法:用聚合酶链反应、限制性内切酶筛查葡萄糖-6-磷酸酶基因1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G,487G→A、392G→T、95A→G突变,用单链构象多... 详细信息

目的:鉴定1例葡萄糖-6-磷酸脱氢酶缺乏症患者的基因突变。方法:用聚合酶链反应、限制性内切酶筛查葡萄糖-6-磷酸酶基因1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G,487G→A、392G→T、95A→G突变,用单链构象多态性筛查葡萄糖-6-磷酸脱氢酶基因的所有外显子,用核苷酸序列测定确定基因突变。结果:该患者未存在1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G、487G→A、392G→T、95A→G突变,但在外显子8发现了一种新的G6PD基因突变———835A→G突变,此突变导致第279位的苏氨酸被丙氨酸取代,将其命名为G6PD-海口,其酶活性约是正常的10%,比835A→T突变型的活性低,后者的酶活性约是正常的40%;分析人G6PD的三维结构模型表明,第279位苏氨酸残基的羟基对于维持G6PD亚基的相互作用具有非常重要的作用。结论:835A→G突变是一种新的G6PD基因突变型,G6PD的第279位苏氨酸残基的羟基是维持G6PD亚基相互作用及酶活性的必需基团。

关键词：葡萄糖-6-磷酸脱氢酶葡萄糖-6-磷酸脱氢酶缺乏症聚合酶链反应三雏结构模型

海南汉族、黎族人群葡萄糖-6-磷酸脱氢酶基因的1376G→T突变

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中华医学遗传学杂志 2000年第5期17卷 326-328页

作者：蔡望伟蔡兰洁周代锋邝宇周玉英 Filosa Stefania Martini Giuseppe 海南医学院生物化学教研室海口570102 Istituto internazionale di Geneticae Biofisica

目的　了解海南汉族、黎族人群 G6 PD缺乏症患者的 G6 PD基因 1376 G→T突变。方法　用盐提取法提取 G6 PD缺乏症患者白细胞的 DNA,用等位基因特异聚合酶链反应检测 1376 G→ T突变。结果在分析的 5 9例汉族患者和 32例黎族患者中 ,19... 详细信息

目的　了解海南汉族、黎族人群 G6 PD缺乏症患者的 G6 PD基因 1376 G→T突变。方法　用盐提取法提取 G6 PD缺乏症患者白细胞的 DNA,用等位基因特异聚合酶链反应检测 1376 G→ T突变。结果在分析的 5 9例汉族患者和 32例黎族患者中 ,19例汉族患者和 18例黎族患者有 G6 PD基因 1376 G→ T突变 ,该突变在汉族、黎族患者中所占的比例分别为 32 .2 %和 5 6 .2 %。结论　 G6 PD基因 1376 G→T是引起海南黎族、汉族人 G6 PD缺乏症的主要突变之一 ;根据中国不同民族的聚类分析图 ,该结果提示 1376 G→ T突变可能在黎族人形成之前已经出现。研究不同民族的 G6 PD基因突变 ,对于阐明各民族的起源、迁移。

关键词：葡萄糖-6-磷酸脱氢酶缺乏症基因突变 G6PD基因