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AB090. MOG1, the genetic modifier at 20q13, delays the age-at-onset of glaucoma by 8 to 10 years

Annals of Eye Science 2018年第1期 496-496页

作者： vincent raymond Pascal Belleau Rose Arseneault Stéphane Dubois Jean-Louis Anctil Gilles Côté Marcel Amyot Fahed Elian Michael AWalter Québec Glaucoma Network Département d’ophtalmologie Centre de rechrechr du CHU de QuébecQuébecQCCanada

Background:Primary open-angle glaucoma(POAG)is a genetically complex disorder caused primarily by gene-gene *** identify these interactions,we studied the CA family,a large French-Canadian pedigree in which the myocilin K423E mutation(MYOCK423E)causes autosomal dominant glaucoma with diagnoses ranging from juvenile-onset OAG(JOAG)to late adult-onset POAG in the heterozygotes(HTZ).To explain this extreme variability,we hypothesized that a second gene,called a modifier,was interacting with MYOC,the primary disease *** goals were(I)to map the modifier on the human genome and;(II)to characterize the symptoms affected genetically by the *** symptoms are called ***:Three hundred seventy-five CA members were studied using four quantitative endophenotypes:age of maximal intra-ocular pressures(IOPmax),IOPs progression,progression of cup to disk ratios and age-at-onset(AAO)defined as age at which ocular hypertension(OHT)was first detected with IOP≥22 ***-wide linkage analysis was performed by genotyping 408 genetic markers in 184 CA *** unbiased pedigree-based algorithm was designed to identify the individuals who were double-mutants,i.e.,these individuals carried one MYOCK423E mutation(i.e.,they were HTZ,affected or not)and they also carry simultaneously a DNA mutation within the ***:Out of the 375 CA family members investigated,156 were HTZ for the MYOCK423E mutation.120 HTZ were affected with OAG or OHT with treatment while the remaining 36 HTZ were *** ranged from 7 to 63 years old;4 individuals over 50 years old were still *** preceded optic nerve damage in>98%of the HTZ carriers,confirming that AAO reflected the true severity of the *** modifier showed strong inherited effects on 2 of the 4 endophenotypes:AAO and *** next mapped with very high confidence the modifier locus for AAO at chromosome *** genotyping with additional markers refined th

关键词： Blindness genomics complex genetic disorder gene-gene interactions biostatistics

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*** dissection of myocilin(MYOC)-induced glaucoma reveals that the modifier of glaucoma 1(MOG1)locus encodes a gene which prevents ocular hypertension

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Annals of Eye Science 2019年第1期 199-199页

作者： vincent raymond Pascal Belleau Rose Arseneault Jean-Louis Anctil Gilles Côté Marcel Amyot Patrick Laplante Laurent Lamalice Stéphane Dubois Fahed Elian Michael A.Walter Québec Glaucoma Network CHUL at CHU de Québec-UniversitéLaval Québec CityQCCanada Molecular Medicine UniversitéLavalQuébec CityQCCanada Cold Spring Harbor Laboratory NYUSA Department of Ophthalmology UniversitéLavalQuébec CityQCCanada Department of Ophthalmology Universitéde MontréalMontréalQCCanada Medical Genetics University of AlbertaEdmontonABCanada Ophthalmologists from Province of Québec QuébecQCCanada

Background:Pathogenic mechanisms leading to open-angle glaucoma(OAG)are genetically *** involve neuroinflammation,elevation of intra-ocular pressures(IOP)and optic nerve hypersensitivity to cellular *** mapped a locus at chromosome 20q13 that contains a modifier gene for glaucoma *** searching for its identity,we named this gene modifier of glaucoma 1(MOG1).The goal of this study is to characterize the mechanism by which MOG1 delays the age of onset of glaucoma when OAG is caused by mutations in the MYOC *** hypothesized that MOG1 mechanism may be linked to a specific endophenotype and thus dissected ocular phenotypes present in a large French-Canadian MYOC glaucoma ***:We studied 375 members of the CA pedigree in which autosomal dominant OAG is caused by the MYOCK423E *** this family,wild-type MOG1(normal form)delays the age-at-onset(AAO)of *** records of MYOCK423E carriers were reviewed to extract the values of four quantitative traits portraying four endophenotypes:(I)age of maximal intra-ocular pressure(IOP max),(II)IOP progression,(III)rate of optic nerve degeneration and,(IV)AAO defined as the age at which IOP≥22 mmHg or age at which optic disk degeneration was first *** were tested for their heritability.A three-stage algorithm was designed to detect double mutants who carry the MYOCK423E mutation and putative MOG1 *** traits values of double-mutants were then ***:We found 156 individuals who were heterozygotes(HTZ)for *** hundred and twenty of these were classified affected as they were OAG or had treatment for ocular hypertension(OHT)with IOP≥22 *** other 36 HTZ were *** two endophenotypes,AAO and IOP max,showed significant *** was the 1st symptom detected in 99%of the affecteds;it always preceded optic nerve *** of the affecteds ranged from 7 to 63 years old while rates of optic nerve degenera

关键词： Blindness glaucoma genetics modifier myocilin

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Advances in computerized MRI-based biomarkers in Alzheimer's disease

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Brain Science Advances 2021年第1期7卷 26-43页

作者： raymond Wong Yishan Luo vincent Chung-tong Mok Lin Shi BrainNow Research Institute Shenzhen 518081GuangdongChina Department of Medicine and Therapeutics The Chinese University of Hong KongHong Kong 999077China Department of Imaging and Interventional Radiology The Chinese University of Hong KongHong Kong 999077China

The use of neuroimaging examinations is crucial in Alzheimer’s disease(AD),in both research and clinical *** the years,magnetic resonance imaging(MRI)–based computer-aided diagnosis has been shown to be helpful for early screening and predicting cognitive ***,an increasing number of studies have adopted machine learning for the classification of AD,with promising *** this review article,we focus on computerized MRI-based biomarkers of AD by reviewing representative studies that used computerized techniques to identify AD patients and predict cognitive *** categorized these studies based on the following applications:(1)identifying AD from normal control;(2)identifying AD from other dementia types,including vascular dementia,dementia with Lewy bodies,and frontotemporal dementia;and(3)predicting conversion from NC to mild cognitive impairment(MCI)and from MCI to *** systematic review could act as a state-of-the-art overview of this emerging field as well as a basis for designing future studies.

关键词： Alzheimer’s disease magnetic resonance imaging machine learning deep learning biomarkers

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青年型开角型青光眼的中国家系的新型Myocilin基因突变

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美国医学会眼科杂志（中文版） 2006年第4期18卷 256-256页

作者： Bao Jian Fan Dexter Y. L Leung Dan Yi Wang Stéphane vincent raymond Pancy O. S. Tam Dennis S. C. Lam Chi Pui Pang 王婷（译）

目的：探讨某中国家系青年型开角型青光眼（JOAG）的致病基因。方法：在一个青光眼家系中，三代人中患JOAG或高眼压。我们筛查了6位家族成员Myocilin（MYOC）和 optineurin（OPTN）的突变和apolipoprotein E的多态性，2位患有JOAG，2位... 详细信息

目的：探讨某中国家系青年型开角型青光眼（JOAG）的致病基因。方法：在一个青光眼家系中，三代人中患JOAG或高眼压。我们筛查了6位家族成员Myocilin（MYOC）和 optineurin（OPTN）的突变和apolipoprotein E的多态性，2位患有JOAG，2位患有高眼压，2位无症状。正常对照组包括200位与本家系无关联的受试者。用编码野生型或变异性 MYOC 互补 DNA 的表达载体转染cos-7细胞系。细胞内或分泌的MYOC蛋白用Western法进行检测。

关键词：开角型青光眼基因突变青年型中国正常对照组 cos-7 致病基因

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Tax distortions in cross-border flows of intangible assets

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International Journal of Innovation Studies 2018年第3期2卷 101-121页

作者： Thomas Neubig Sacha Wunsch-vincent Tax Sage Network WashingtonD.C.USA Economics and Statistics Division World Intellectual Property Organization(WIPO)CH-1211 GenevaSwitzerland

The phenomenon of global fragmented production and associated trade in intermediate products,including intangible assets,has changed how economists study globalization and how new public policies are *** cross-border flows of disembodied knowledge,often associated with intellectual property(IP),is essential for analyzing how modern economies *** data to document these international IP-related knowledge flowsdnamely cross-border payments for IPdare distorted by various *** planning by multinational enterprises has seriously distorted the measurement of cross-border IP flows,affecting national measurements of imports,exports,GDP,and *** tax-induced mismeasurement could be more than 35% of global charges for use of intellectual property,and greater for individual countries,particularly high-taxrate *** initiatives to address the effects of tax base erosion,profit shifting,and other statistical initiatives on global value chains will improve future measurements of cross-border IP flows,improving the understanding of both the creation and uses of IP.

关键词： Global value chain Intellectual property Intangible assets Tax Base erosion Profit shifting Cross-border flows Charges for the use of intellectual property

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Impact of Photonic Action on the Hygroscopy of Sweet Potato Starch-Based Bioplastics from Congo

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Open Journal of Applied Sciences 2022年第1期12卷 42-50页

作者： Aristide H. W. Nakavoua Anicet F. Binaki Emmanuelle S. Ouenadio raymond G. Elenga vincent Verney Laboratory of Natural Substances Chemistry (IRSEN) Brazzaville Congo Equipe Pluridisciplinaire en Alimentation et Nutrition P&#244le d’Excellence Régionale en Alimentation et Nutrition BP 389 Faculté de Sciences et Techniques Brazzaville Congo Laboratory for the Valorisation of Agri-Resources Ecole Normale Superieure Politechnique (ENSP) Marien Ngouabi Univer-sity Brazzaville Congo Laboratory for materials and Energy Faculty of Science and Technology (FAST) Marien Ngouabi University Brazzaville Congo Institute of Chemistry of Clermont-Ferrand (ICCF) UMR 6296 Team Design of Polymers and Macromolecules Scientist Set Cézeaux24 Avenue des Landais Clermont-Ferrand France

The work carried out here opens another perspective in the valorization of sweet potatoes produced in Congo Brazzaville other than those proposed by BOULA and all. We have shown in this work that the hydrophilic property of starch which limits the production of starch-based bioplastics can be inhibited by using the effects of photonic incandescence. Indeed, light significantly impacts the bioplastic matrix causing a decrease of the sites likely to bind water molecules. However, it would be desirable to apply rheology for a better follow-up of this cross-linking phenomenon. The synthesized retrograde bioplastic having undergone a photonic stress shows better physical properties to be used as packaging and thus to answer the environmental protection.

关键词： Aging Bioplastic Ipomea batata Photonic Stress

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怎样减小振动对SC切石英晶体振荡器的影响

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宇航计测技术 1983年第S1期 63-68页

作者： vincent R.ROSATI raymond L.FILLER 杨易旻

要给现代化通讯、导航及雷达系统提供必要的频谱纯度,就必须减小石英谐振器的加速灵敏度（γ）,例如从γ=10-10/g 减小到γ=10-12/g。为了实现这一目的,当前正在研究几种（仅与谐振器有关的）无源法。专门设计的单谐振器和双谐振器是无... 详细信息

要给现代化通讯、导航及雷达系统提供必要的频谱纯度,就必须减小石英谐振器的加速灵敏度（γ）,例如从γ=10-10/g 减小到γ=10-12/g。为了实现这一目的,当前正在研究几种（仅与谐振器有关的）无源法。专门设计的单谐振器和双谐振器是无源法应用的两个实例。应用电子线路的有源法已经进行了研究,它能进一步使振动影响减到1/50。然而,用来实现这种方法的变容二极管的非线性限制了可能达到的最终减小量。本文介绍一种可供使用的有源法。这种方法的原理是应用 SC 切晶体的线性电压～频率特性,而要点在于把相位适当的振动模拟信号电压直接加在晶体电极上。用几块不同的SC 切晶体所做的一系列试验都确认了这种有源法的效果。把晶体振荡器略加修改,是为了加入补偿电压,而不会改变振荡器的电路原理。补偿测试范围:加速度1至14g,振动频率50至500Hz;补偿电压大小取决于γ的初值,可从-20至+20V（峰-峰值）。初步实验结果表明,在不连续的频率上γ值几乎能降低三个数量级,在50到500Hz 连续频率范围能降低一个数量级。

关键词：振荡器电子设备变容二极管变容管相位噪声有源法 SC

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A planar defect spin sensor in a two-dimensional material susceptible to strain and electric fields

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npj Computational Materials 2023年第1期9卷 775-782页

作者： Péter Udvarhelyi Tristan Clua-Provost Alrik Durand Jiahan Li James H.Edgar Bernard Gil Guillaume Cassabois vincent Jacques Adam Gali Wigner Research Centre for Physics P.O.Box 49H-1525 BudapestHungary Budapest University of Technology and Economics Institute of PhysicsDepartment of Atomic PhysicsMűegyetem rakpart 3.1111 BudapestHungary Laboratoire Charles Coulomb Universitéde Montpellier and CNRS34095 MontpellierFrance Tim Taylor Department of Chemical Engineering Kansas State UniversityManhattanKS 66506USA

The boron-vacancy spin defect(V_(B)^(-))in hexagonal boron nitride(hBN)has a great potential as a quantum sensor in a two-dimensional material that can directly probe various external perturbations in atomic-scale proximity to the quantum sensing ***,we apply first-principles calculations to determine the coupling of the VB electronic spin to strain and electric *** work unravels the interplay between local piezoelectric and elastic effects contributing to the final response to the electric *** theoretical predictions are then used to analyse optically detected magnetic resonance(ODMR)spectra recorded on hBN crystals containing different densities of V_(B)^(-) *** prove that the orthorhombic zero-field splitting parameter results from local electric fields produced by surrounding charge *** work paves the way towards applications of V_(B)^(-) centres for quantitative electric field imaging and quantum sensing under pressure.

关键词： defect quantum boron

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Effectiveness and Safety of 9-Month Treatment Regimen for Multidrug-Resistant Tuberculosis in the Philippines

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Journal of Tuberculosis Research 2022年第2期10卷 75-86页

作者： Vivian S. Lofranco vincent M. Balanag Jr Lawrence O. raymond Noel G. Macalalad Alex Golubkov Mary Rosary T. Santiago Anna Marie Celina G. Garfin National Center for Pulmonary Research-Lung Center of the Philippines Quezon City Philippines National TB Reference Laboratory-Research Institute for Tropical Medicine Muntinlupa City Philippines Global Health Bureau Infectious Diseases Office TB Division U.S. Agency for International Development (USAID) Washington USA Disease Prevention and Control-Department of Health Manila Philippines

Background: The Philippines has a burden of drug-resistant tuberculosis (DR-TB). One of the key challenges in the programmatic management of DR-TB (PMDT) is the high rate of loss to follow-up (38% in the 2010 cohort). An urgent need for a shorter, more tolerable, less expensive treatment regimen exists. The aim of the operational study is to determine the efficacy and safety of the short treatment regimen among drug resistant TB. Methods: This is a prospective single-arm cohort study evaluating the effectiveness and safety of a shorter 9 - 11-month treatment regimen (9MTR) for rifampicin-resistant/multi-drug resistant TB (RR/MDR-TB) in 10 PMDT facilities. All eligible consenting adult patients with rifampicin-resistant TB were enrolled and received the standardized 9-month treatment regimen (9MTR), including injectables, with a follow-up after 12 months of treatment completion. Results: A total of 329 patients were enrolled from July 2015 to December 2016. At the 6th month post-enrollment, 256 (77.8%) of them had culture-negative test results. The end-of-treatment success rate was 74.1% (224 [68.0%] were cured and 20 [6.1%] completed the treatment). On the other hand, 10 (3.0%) died, 41 (12.5%) lost to follow-up, 33 (10.0%) withdrawn, 1 (0.3%) treatment failure. In the 12th month after 9MTR completion, among the 244 patients with successful treatment, 198 (81.1%) had culture-negative results, while there were 46 patients whose culture tests were not done. One patient developed TB relapse with fluoroquinolone resistance. The majority of the adverse events were mild that occurred mostly during the first 6 months of treatment. Conclusion: The 9-month treatment regimen had a high treatment success rate with a favorable safety profile. The loss to follow-up was reduced;however, it was still a challenge. The introduction of the 9MTR via operational research had a major impact on building national capacity and infrastructure for the programmatic adoption of a new regimen.

关键词： MDR-TB Short Treatment Regimen Treatment Outcomes Prospective Studies

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ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population

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Chinese Medical Journal 2012年第3期125卷 476-480页

作者： Wang Hong Hetmanski, Jacqueline B. Ruczinski, Ingo Liang, Kung Yee Fallin, M. Daniele Redett, Richard J. raymond, Gerald V. Chou, Yah-Huei Wu Chen, Philip Kuo-Ting Yeow, vincent Chong, Samuel S. Cheah, Felicia S. H. Jabs, Ethylin Wang Scott, Alan F. Beaty, Terri H. Peking Univ Dept Epidemiol & Biostat Sch Publ Hlth Beijing 100191 Peoples R China Johns Hopkins Bloomberg Sch Publ Hlth Dept Epidemiol Baltimore MD USA Johns Hopkins Bloomberg Sch Publ Hlth Dept Biostat Baltimore MD USA Natl Yang Ming Univ Dept Life Sci Taipei 112 Taiwan Natl Yang Ming Univ Inst Genome Sci Taipei 112 Taiwan Johns Hopkins Univ Sch Med Dept Surg Baltimore MD 21205 USA Johns Hopkins Univ Sch Med Kennedy Krieger Inst Baltimore MD USA Johns Hopkins Univ Sch Med Dept Pediat Baltimore MD 21205 USA Johns Hopkins Univ Sch Med Dept Med Baltimore MD 21205 USA Chang Gung Mem Hosp Dept Med Res Tao Yuan Taiwan Chang Gung Mem Hosp Craniofacial Ctr Tao Yuan Taiwan KK Womens & Childrens Hosp Dept Plast Reconstruct & Aesthet Surg Singapore Singapore Natl Univ Singapore Dept Pediat Singapore 117548 Singapore Mt Sinai Sch Med New York NY USA

Background The receptor tyrosine kinase-like orphan receptor 2 （ROR2） gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in *** aim of this study was to investigate the possible association between ROR2 gene and non-syndromic oral *** Here we tested 38 eligible single-nucleotide polymorphisms （SNPs） in ROR2 gene in 297 non-syndromic cleft lip with or without cleft palate and in 82 non-syndromic cleft palate case parent trios recruited from Asia and *** Based Association Test was used to test for deviation from Mendelian *** software was used to test potential parent of origin *** maternally mediated in utero effects were assessed using the TRlad Multi-Marker approach under an assumption of mating symmetry in the *** Significant evidence of linkage and association was shown for 3 SNPs （rs7858435,rs10820914 and rs3905385） among 57 Asian non-syndromic cleft palate trios in Family Based Association Tests.P values for these 3 SNPs equaled to 0.000068,0.000115 and 0.000464 respectively which were all less than the significance level （0.05/38=0.0013） adjusted by strict Bonferroni *** odds ratios for the risk allele were 3.42 （1.80-6.50）,3.45 （1.75-6.67） and 2.94 （1.56-5.56）,*** evidence of linkage and association was not shown for study groups other than non-syndromic cleft *** evidence for parent-of-origin nor maternal genotypic effect was shown for any of the ROR2 markers in our analysis for all study *** Our results provided evidence of linkage and association between the ROR2 gene and a gene controlling risk to non-syndromic cleft palate.

关键词： receptor tyrosine kinase-like orphan receptor 2 cleft lip cleft palate association transmission disequilibrium test

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