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

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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

*** 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

Useful zero friction simulations for assessing MBS codes pascal’s formula giving wheelsets frequency for zero wheel-rail friction

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Theoretical & Applied Mechanics Letters 2022年第3期12卷 145-155页

作者： Jean Pierre pascal pascal Coding Rue d’ErquyPleneuf-Val-Andre F-22370France

Present study provides a simple analytical formula,the“Klingel-like formula”or“pascal’s Formula”that can be used as a reference to test some results of existing railway codes and specifically those using rigid *** develops properly the 3D Newton-Euler equations governing the 6 degrees of freedom(DoF)of unsuspended loaded wheelsets in case of zero wheel-rail friction and constant ***,by solving numerically these equations,we got pendulum like harmonic oscillations of which the calculated angular frequency is used for assessing the accuracy of the proposed formula so that it can in turn be used as a fast practical target for testing multi-body system(MBS)railway *** to the harmonic property of these pendulum-like oscillations,the squareω2 of their angular frequency can be made in the form of a ratio K/M where K depends on the wheelset geometry and load and M on its *** on K and M are useful to understand wheelsets *** analytical formula is derived from the first order writing of full trigonometric Newton-Euler equations by setting zero elastic wheel-rail penetration and by assuming small *** trigonometric equations are numerically solved to assess that the formula providesω2 inside a 1%accuracy for usual wheelsets *** decreasing the conicity down to 1×10^(−4) rad,the relative formula accuracy is under 3×10^(−5).In order to test the formula reliability for rigid contact formulations,the stiffness of elastic contacts can be increased up to practical rigidity(Hertz stiffness×1000).

关键词： Unsuspended wheelsets Klingel formula Rigid contact Harmonic oscillation Multi body system railway codes Code validation

Treating amyotrophic lateral sclerosis with allogeneic Schwann cell-derived exosomal vesicles: a case report

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Neural Regeneration Research 2025年第4期20卷 1207-1216页

作者： pascal J.Goldschmidt-Clermont Aisha Khan George Jimsheleishvili Patricia Graham Adriana Brooks Risset Silvera Alexander J.P.Goldschmidt Damien D.Pearse W.Dalton Dietrich Allan D.Levi James D.Guest Miller School of Medicine University of MiamiMiamiFLUSA Stem Cell Institute Miller School of MedicineUniversity of MiamiMiamiFLUSA The Miami Project to Cure Paralysis Miller School of MedicineUniversity of MiamiMiamiFLUSA Alzady International LLC MiamiFLUSA Neurological Surgery Miller School of MedicineUniversity of MiamiMiamiFLUSA

Schwann cells are essential for the maintenance and function of motor neurons,axonal networks,and the neuromuscular *** amyotrophic lateral sclerosis,where motor neuron function is progressively lost,Schwann cell function may also be ***,important signaling and potential trophic activities of Schwann cell-derived exosomal vesicles have been *** case report describes the treatment of a patient with advanced amyotrophic lateral sclerosis using serial intravenous infusions of allogeneic Schwann cell-derived exosomal vesicles,marking,to our knowledge,the first instance of such *** 81-year-old male patient presented with a 1.5-year history of rapidly progressive amyotrophic lateral *** initial diagnosis,the patient underwent a combination of generic riluzole,sodium phenylbutyrate for the treatment of amyotrophic lateral sclerosis,and *** patient volunteered to participate in an FDA-approved single-patient expanded access treatment and received weekly intravenous infusions of allogeneic Schwann cell-derived exosomal vesicles to potentially restore impaired Schwann cell and motor neuron *** confirmed that cultured Schwann cells obtained from the amyotrophic lateral sclerosis patient via sural nerve biopsy appeared impaired(senescent)and that exposure of the patient’s Schwann cells to allogeneic Schwann cell-derived exosomal vesicles,cultured expanded from a cadaver donor improved their growth capacity in *** a period of observation lasting 10 weeks,during which amyotrophic lateral sclerosis Functional Rating Scale-Revised and pulmonary function were regularly monitored,the patient received weekly consecutive infusions of 1.54×1012(×2),and then consecutive infusions of 7.5×1012(×6)allogeneic Schwann cell-derived exosomal vesicles diluted in 40 mL of Dulbecco’s phosphate-buffered *** of the infusions were associated with adverse events such as infusion reactions(allergic or otherwise)or

关键词： allogeneic amyotrophic lateral sclerosis exosomes infusion neuromuscular junction Schwann cell

On the Mechanization of Straightedge and Compass Constructions

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Journal of Systems Science & Complexity 2019年第1期32卷 124-149页

作者： SCHRECK pascal Université de Strasbourg UFR de Mathématique et Informatique-ICube

The geometric constructions obtained with only straightedge and compass are famous and play a special role in the development of geometry. On the one hand, the constructibility of ?gures is a key ingredient in Euclid geometry and, on the other hand, unconstructibility gave birth to famous open problems of the ancient Greece which were unlocked only in the nineteenth century using discoveries in algebra. This paper discusses the mechanization of straightedge and compass constructions. It focuses on the algebraic approaches and presents two methods which are implemented; one is due to Lebesgue and the other one was jointly designed by Gao and Chou. Some links between the algebraic approach of constructions and synthetic geometry are described.

关键词： Geometric knowledge-based systems regular chains straightedge and compass constructibility triangle problems Wu's method

GRADIENT FLOW FINITE ELEMENT DISCRETISATIONS WITH ENERGY-BASED ADAPTIVITY FOR EXCITED STATES OF SCHRÖDINGER'S EQUATION

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Journal of Computational Mathematics 2023年第5期41卷 933-955页

作者： pascal Heid Mathematical Institute University of OxfordWoodstock RoadOxford OX26GGUK

The purpose of this paper is to verify that the computational scheme from[Heid et al.,Gradient flow finite element discretizations with energy-based adaptivity for the Gross–Pitaevskii equation,***.436(2021)]for the numerical approximation of the ground state of the Gross–Pitaevskii equation can equally be applied for the effective approximation of excited states of Schr¨odinger’s *** procedure employs an adaptive interplay of a Sobolev gradient flow iteration and a novel local mesh refinement strategy,and yields a guaranteed energy decay in each step of the *** computational tests in the present work highlight that this strategy is indeed able to approximate excited states,with(almost)optimal convergence rate with respect to the number of degrees of freedom.

关键词： Schrodinger’s equation Excited states Gradient flows Adaptive finite element methods

SUSY searches at ATLAS

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Frontiers of physics 2013年第3期8卷 248-256页

作者： pascal Pralavoriot CPPM University Aix-Marseille and CNRS/IN2P3 Marseille France

Despite the absence of experimental evidence, weak scale supersymmetry remains one of the best motivated and studied Standard Model extensions. The ATLAS experiment at the LHC searches for signs of supersymmetry in a large variety of signatures involving events with abnormal production of missing transverse momentum, jets, leptons, third generation fermions, gauge bosons or massive long-lived particles. A summary of the most recent results obtained in these searches is presented.

关键词： supersymmetry (SUSY) ATLAS LHC

Fluid dynamic modeling of junctions in internal combustion engine inlet and exhaust systems

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Journal of Thermal Science 2010年第5期19卷 410-418页

作者： David Chalet pascal Chesse Internal Combustion Engine Team Laboratory of Fluid Mechanics-UMR CNRS 6598 Ecole Centrale de NantesBP 92101 44321 NantesFrance

The modeling of inlet and exhaust systems of internal combustion engine is very important in order to evaluate the engine *** paper presents new pressure losses models which can be included in a one dimensional engine simulation *** a first part,a CFD analysis is made in order to show the importance of the density in the modeling ***,the CFD code is used,as a numerical test bench,for the pressure losses models *** coefficients depend on the geometrical characteristics of the junction and an experimental validation is made with the use of a shock tube test *** the models are then included in the engine simulation code of the *** numerical calculation of unsteady compressible flow,in each pipe of the inlet and exhaust systems,is made and the calculated engine torque is compared with experimental measurements.

关键词： compressible flow gas dynamics pressure wave propagation discharge coefficient internal combustion engine CFD simulation

Media-specific rate allocation in heterogeneous wireless networks

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2006年第5期7卷 713-726页

作者： JURCA Dan FROSSARD pascal Ecole Polytechnique Fédérale de Lausanne Signal Processing Institute Lausanne CH-1015 Switzerland

We address the problem of joint path selection and rate allocation in multipath wireless streaming, in order to optimize a media specific quality of service. We leverage on the existence of multiple parallel wireless services, in order to enhance the received video quality at a wireless client. An optimization problem is proposed, aimed at minimizing a video distortion metric based on sequence-dependent parameters, and transmission channel characteristics, for a given wireless network infrastructure. Even if joint optimal path selection and rate allocation is in general an NP complete problem, an in-depth analysis of the media distortion evolution allows defining a low complexity optimal streaming strategy, under reasonable network assumptions. In particular, we show that a greedy allocation of rates along paths with increasing error probability leads to an optimal solution. We argue that a network path should not be chosen for transmission, unless all other available paths with lower error probability have been chosen. Moreover, the chosen paths should be used at their maximum end-to-end bandwidth. These results are demonstrated for both independent network paths, and non-disjoint channel segments, in generic network topologies. Simulation results showed that the optimal rate allocation carefully trades off total encoding/transmission rate, with the end-to-end transmission error probability and the number of chosen paths. In many cases, the optimal rate allocation provides more than 20% improvement in received video quality, compared to heuristic-based algorithms.

关键词： Multipath streaming, Path selection, Rate allocation, Video streaming