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PLCG2 Mutation in a Patient Presenting with Type 2 Autoimmune Hepatitis

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Journal of Clinical and Translational Hepatology 2024年第7期12卷 685-687页

作者： Antoine Gardin Léa Gaigne Aude Magérus Frédéric Rieux-Laucat Emmanuel Jacquemin Pediatric Hepatology and Liver Transplantation Unit National Reference Centre for Inflammatory Diseases of the Bile Ducts and Autoimmune HepatitisFILFOIEERN RARE LIVERBicêtre HospitalAssistance Publique–Hôpitaux de ParisUniversity Paris-SaclayLe Kremlin-BicêtreFrance INSERM UMR 1193 HepatinovParis-Saclay UniversityOrsayFrance Laboratory of Immunogenetics of Pediatric Autoimmune Diseases INSERM UMR 1163Imagine InstituteParis CitéUniversityParisFrance

The combination of defective immune tolerance and external triggers is thought to underlie the pathophysiology of autoimmune hepatitis.1,2 Some polymorphisms associated with susceptibility to autoimmune hepatitis have been reported,and some cases have been described in patients with monogenic primary immune deficiencies or systemic diseases.

关键词： autoimmune Autoimmune immune

The germline genetics of mild-to-moderate penetrance:An intriguing role of PRAME in multiple carcinogenesis

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Genes & Diseases 2024年第3期11卷 7-10页

作者： Diaddin Hamdan Van Tai Nguyen Justine paris Christophe Leboeuf Morad El Bouchtaoui Marc Espie Anne Janin Geraldine Falgarone Melanie Di Benedetto Guithem Bousquet universite de paris Cite INSERMUMR_S942MASCOTParis F-75006France Hopital La Porte Verte Versailles F-78004France National Cancer Hospital Cancer Research and Clinical Trials CenterHaNoi100000VietNam AP-HP-Hopital Saint Louis Centre de Maladies du SeinParisF-75010France universite Sorbonne paris Nord Bobigny F-93000France AP-HP-Hopital Avicenne Unite de Medecine AmbulatoireBobigny F-93000France

Germline genetics of high penetrance such as BRCA genes,mutations might be sufficient for carcinogenesis,but this only explains fewer than 10%of *** assume that most cancers are the result of germline mutations of low to moderate penetrance,combined with acquired mutations due to external carcinogenic *** their accumulation over time,aging is associated with an increased risk of multiple cancer development in a given *** decades,germline genetics have been based on familial linkage studies enabling most high-penetrance genes to be *** recently,population-wide studies have led to the identification of considerable numbers of polymorphisms associated with cancer ***,most of them are of unknown functional value,thus limiting their translational application.

关键词： carcinogenesis BRCA linkage

Early Quality Life Impairment in Alzheimer Disease’s Patients in Geriatric department: About 214 Cases in Pitié Salpêtrière Hospital of paris (France)

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Open Journal of Internal Medicine 2024年第1期14卷 30-42页

作者： Andia Abdoulkader Audrey Rouet Benedicte Dieudonné Jacque Boaddert Charlotte Tomeo Sandrine Greffard Marc Verny department of Geriatric of Pitie Salpetrière Hospital 47-83 Boulevard de l’H&ocircpital Paris France

Alzheimer’s disease (AD) is the most common neurodegenerative disease causing an alteration of life quality in the terminal stage. The purpose was to report 14 years of experience about the early impact on the quality of life of patients with AD. Methodology: descriptive retrospective study over 14 years in the geriatric department of Pitié Salpêtrière Hospital, using the activity of daily living, Instrumental activity of daily living, neuropsychological inventory and Hoen Yahr scale evaluated at the time of diagnosis of AD according to the National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer Disease’s and Related Disorders Association diagnostic criteria. Results: A total of 214 exploitable files had been listed. At the moment of diagnosis, the mean age was 82.1 years with extremes 68 to 95 with sex ratio 1.6 in women’s favor. The mean socio-cultural level was 4.9 with extremes about 0 to 7. There was poly pathology with a mean Cumulative Illness Rate Scale = 4.6 with extremes 0 to 16. the mean cognitive status was moderate = 22.5 with extremes 0 to 30. Quality life showed moderate impairment of IADL = 9.2 with extreme 3 to 11 compared to activity of daily living. The activity of daily living was more affected in 68 - 80-year-olds, while poly pathology impacted more on IADL in men. The cognitive impairment was more deficient in IADL when the MMSE test was low. The common disorders at the NPI were psychological, behavioral and psychotic. Conclusion: At the early diagnosis of Alzheimer’s Disease cognitive deficiencies were predominant and influenced on global Instrumental activity and psychological, behavioral disorders.

关键词： Alzheimer’s Disease IADL ADL NPI paris France

Beyond authorship: Analyzing contributions in PLOS ONE and the challenges of appropriate attribution

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Journal of Data and Information Science 2024年第3期9卷 88-115页

作者： Abdelghani Maddi Jaime A.Teixeira da Silva GEMASS-CNRS-Sorbonne université 59/61 rue Pouchet 75017 ParisFrance Independent researcher Ikenobe 3011-2Kagawa-ken761-0799Japan

Purpose:This study aims to evaluate the accuracy of authorship attributions in scientific publications,focusing on the fairness and precision of individual contributions within academic ***/methodology/approach:The study analyzes 81,823 publications from the journal PLOS ONE,covering the period from January 2018 to June *** examines the authorship attributions within these publications to try and determine the prevalence of inappropriate *** also investigates the demographic and professional profiles of affected authors,exploring trends and potential factors contributing to inaccuracies in ***:Surprisingly,9.14%of articles feature at least one author with inappropriate authorship,affecting over 14,000 individuals(2.56%of the sample).Inappropriate authorship is more concentrated in Asia,Africa,and specific European countries like *** researchers with significant publication records and those affiliated with companies or nonprofits show higher instances of potential monetary *** limitations:Our findings are based on contributions as declared by the authors,which implies a degree of trust in their ***,this reliance on self-reporting may introduce biases or inaccuracies into the *** research could employ additional verification methods to enhance the reliability of the *** implications:These findings have significant implications for journal publishers,Beyond authorship:Analyzing contributions in PLOS ONE and Maddi,A.,&the challenges of appropriate attribution highlighting the necessity for robust control mechanisms to ensure the integrity of authorship ***,researchers must exercise discernment in determining when to acknowledge a contributor and when to include them in the author *** these issues is crucial for maintaining the credibility and fairness of academic ***/value:This study contributes to an unders

关键词： Authorship Funding acquisition Research integrity Author contributions CRediT Inappropriate authorship APC ring

Phenotyping floral attractiveness to pollinators using volatilomics,3D imaging,and insect monitoring

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Molecular Plant 2024年第8期17卷 1164-1166页

作者： Filip Slavkovic Adnane Boualem Catherine Dogimont Abdelhafid Bendahmane Institute of Plant Sciences paris-Saclay(IPS2) INRAECNRSUniversity of Paris-SaclayUniversity of EvryUniversity of Paris CiteBatiment 63091192 GifsurYvetteFrance INRAE UR 1052Unite de Génetique et d'Amelioration des Fruits et LegumesBP94.84143Montfavet.France

PLANTS,POLLINATORS,AND BIODIVERSITY:THESTATUSQUO Plant-pollinator coevolution has played a crucial role in shaping the biodiversity of ecosystems that we know ***,plants and pollinators are key to agriculture,contributing to the production of most fruits and vegetables necessary for healthy human ***,over the last decades,there is mounting evidence of pollinator decline all over the world,which constitutes a major threat to food security(European Commission,2020).To pollinators,nectar and pollen are the main rewards:pollen is essentially their only source of proteins,lipids,and vitamins,while nectar is a carbohydrate-rich solution that they use to fuel somatic functions(Ollerton,2021).However,nectar is much more than just a sweet solution:it comprises a plethora of secondary metabolites and volatiles of major importance for plant-pollinator ***,by neglecting these traits and reducing genetic diversity,plant breeding has potentially increased the risk of losing the traits beneficial to pollinators.

关键词： breeding mount vitamin

The importance of increasing primary vaccinations against COVID-19 in Europe

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Infectious Disease Modelling 2024年第1期9卷 1-9页

作者： Pierre-Yves Boelle Eugenio Valdano Sorbonne universite INSERMInstitut Pierre Louis d’Epidemiologie et de Sante PubliqueF75012ParisFrance

In the European Union,mass vaccination against COVID-19 staved off the strict restrictions that had characterized early epidemic ***,vaccination campaigns are focusing on booster doses,and primary vaccinations have all but ***,52 million European adults are *** investigated if reaching the still unvaccinated population in future vaccination campaigns would substantially decrease the current burden of COVID-19,which is *** focused on vaccination homophily,whereby those who are unvaccinated are mostly in contact with other unvaccinated,making COVID-19 circulation *** quantified vaccination homophily and estimated its impact on COVID-19 *** used an online survey of 1,055,286 people from 22 European countries during early *** computed vaccination homophily as the association between reported vaccination status and perceived vaccination uptake among one's own social contacts,using a case-referent design and a hierarchical logistic *** used this information in an analysis of the COVID-19 reproduction ratio to determine the impact of vaccine homophily in *** homophily was present and strong everywhere:the average odds ratio of being vaccinated for a 10-percentage-point increase in coverage among contacts was 1.66(95%CI=(1.60,1.72)).Homophily was positively associated with the strictness of COVID-19-related restrictions in 2020(Pearson=0.49,P=.03).In the countries studied,12%-to-18%of the reproduction ratio would be attributable to vaccine *** vaccination homophily may curb the reproduction ratio substantially even to the point of preventing recurrent epidemic *** addition to boosting those already vaccinated,increasing primary vaccination should remain a high priority in future vaccination campaigns,to reduce vaccination homophily:this combined strategy may decrease COVID-19 burden.

关键词： COVID-19 Vaccination campaign Reproduction ratio Vaccination homophily Survey Europe

Guillaume Broux-Quemerais,Sarah Kaakai, Anis Matoussi,Wissal Sabbagh

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Probability, Uncertainty and Quantitative Risk 2024年第2期9卷 149-180页

作者： Guillaume Broux-Quemerais Sarah Kaakarl Anis Matoussi Wissal Sabbagh Laboratoire Manceau de Mathematiques&FR CNRS No 2962 Institut du Risque et de I'AssuranceLeMansUniversityFrance Centre de Mathématiques Appliquees(CMAP) CNRSEcole polytechniqueInstitut Polytechnique de Paris91120 PalaiseauFrance

In this paper,we present a probabilistic numerical method for a class of forward utilities in a stochastic factor *** this purpose,we use the representation of forward utilities using the ergodic Backward Stochastic Differential Equations(eBSdes)introduced by Liang and Zariphopoulou in[27].We establish a connection between the solution of the ergodic BSde and the solution of an associated BSde with random terminal time T,defined as the hitting time of the positive recurrent stochastic *** viewpoint based on BSdes with random horizon yields a new characterization of the ergodic cost^which is a part of the solution of the *** particular,for a certain class of eBSdes with quadratic generator,the Cole-Hopf transformation leads to a semi-explicit representation of the solution as well as a new expression of the ergodic cost>.The latter can be estimated with Monte Carlo *** also propose two new deep learning numerical schemes for ***,we present numerical results for different examples of eBSdes and forward utilities together with the associated investment strategies.

关键词： deep leaming scheme Forward utilities Ergodic BSdes Markovian solution deep learning algorithm

On Electron Clouds and Light

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Journal of Modern Physics 2024年第4期15卷 491-510页

作者： Claude Daviau Fondation Louis de Broglie Paris France

The wave equation of the electron, recently improved, allows physics to obtain all the quantum numbers and other results explaining the hydrogen spectrum. The Pauli exclusion principle then gives the description of electron clouds used in chemistry. The relativistic wave equation is associated with a Lagrangian density, thus also with an energy-momentum tensorial density. The wave of an electron cloud adds these energy-momentum densities, while photons in light are precisely those differences between such energy-momentum densities.

关键词： Quantum Mechanics Nonlinear Wave Equation Relativity Electron Clouds Photon Light

The TELOMERE REPEAT BINDING proteins TRB4 and TRB5 function as transcriptional activators of PRC2-controlled genes to regulate plant development

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Plant Communications 2024年第7期5卷 178-199页

作者： Simon Amiard Léa Feit Emmanuel Vanrobays Lauriane Simon Samuel Le Goff Loriane Loizeau Léa Wolff Falk Butter Clara Bourbousse Fredy Barneche Christophe Tatout Aline V.Probst iGReD CNRSInsermUniversite´Clermont Auvergne63000 Clermont-FerrandFrance Institut de biologie de I’Ecole normale supe´rieure(IBENS) Ecole normale supe´rieureCNRSINSERMUniversite´PSLParisFrance Institute of Molecular Biology 55128 MainzGermany

Plant-specific transcriptional regulators called TELOMERE REPEAT BINDING proteins(TRBs)combine two DNA-binding domains,the GH1 domain,which binds to linker DNA and is shared with H1 histones,and the Myb/SANT domain,which specifically recognizes the telobox DNA-binding site ***1,TRB2,and TRB3 proteins recruit Polycomb group complex 2(PRC2)to deposit H3K27me3 and JMJ14 to remove H3K4me3 at gene promoters containing telobox motifs to repress ***,we demonstrate that TRB4 and TRB5,two related paralogs belonging to a separate TRB clade conserved in spermatophytes,regulate the transcription of several hundred genes involved in developmental responses to environmental ***4 binds to several thousand sites in the genome,mainly at transcription start sites and promoter regions of transcriptionally active and H3K4me3-marked genes,but,unlike TRB1,it is not enriched at H3K27me3-marked gene ***,TRB4 can physically interact with the catalytic components of PRC2,SWINGER,and CURLY LEAF(CLF).Unexpectedly,we show that TRB4 and TRB5 are required for distinctive phenotypic traits observed in clf mutant plants and thus function as transcriptional activators of several hundred CLF-controlled genes,including key flowering *** further demonstrate that TRB4 shares multiple target genes with TRB1 and physically and genetically interacts with members of both TRB ***,these results reveal that TRB proteins engage in both positive and negative interactions with other members of the family to regulate plant development through both PRC2-dependent and-independent mechanisms.

关键词： chromatin TRB proteins transcriptional regulation PRC2 plant development