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Sturge–Weber syndrome:an update for the pediatrician

World Journal of Pediatrics 2024年第5期20卷 435-443页

作者： emilie Dingenen Damien Segers Hannelore De Maeseneer Dirk Van Gysel Ghent University Faculty of Medicine and Health Sciences GhentBelgium Department of Pediatrics O.L.Vrouw Hospital AalstMoorselbaan 1649300AalstBelgium Interdisciplinary Unit of Pediatric Dermatology Vrije Universiteit Brussel(VUB)Universitair Ziekenhuis Brussel(UZ Brussel)BrusselsBelgium

Sturge–Weber syndrome(SWS)is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary *** usually presents as a facial port-wine birthmark,with a varying presence of leptomeningeal capillary malformations and ocular vascular *** latter may lead to significant neurological and ocular morbidity such as epilepsy and *** is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling *** specifically conducted a comprehensive review focusing on the current knowledge of clinical practices,the latest pathophysiological insights,and the potential novel therapeutic avenues they *** sources A narrative,non-systematic review of the literature was conducted,combining expert opinion with a balanced review of the available literature.A search of PubMed,Google Scholar and Embase was conducted,using keywords“Sturge–Weber Syndrome”OR“SWS”,“Capillary malformations”,“G protein subunit alpha 11”OR“G protein subunit alpha Q”.Results One of the hallmark features of SWS is the presence of a port-wine birthmark at birth,and forehead involvement is most indicative for *** most common ocular manifestations of SWS are glaucoma and choroidal *** presents in either in infancy(0–3 years of age)or later in *** complications are common in SWS,occurring in about 70%–80%of patients,with seizures being the most common *** significantly impacts the quality of life for patients and their families,and requires a multidisciplinary approach for diagnosis and ***,no disease-modifying therapies exist,and treatment is mostly focused on symptoms or complications as they *** SWS remains a complex and heterogeneous *** research is needed to optimize diagnostic and therapeutic strategies,and to transl

关键词： Capillary malformations G-protein Gq-G11 Port-wine birthmark Neurocutaneous disorder Sturge-Weber syndrome

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Molecular pathology for cholangiocarcinoma:a review of actionable genetic targets and their relevance to adjuvant&neoadjuvant therapy,staging,follow-up,and determination of minimal residual disease

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Hepatobiliary Surgery and Nutrition 2024年第1期13卷 29-38页

作者： emilie A.K.Warren Shishir K.Maithel Division of Surgical Oncology Winship Cancer InstituteEmory UniversityAtlantaGAUSA

Cholangiocarcinoma(CCA)represents a group of epithelial cell tumors classified based on their anatomic location along the biliary *** rare malignancy is often diagnosed at an advanced stage and deemed *** for those patients who are surgical candidates,recurrence rates are high and survival rates *** mainstay of therapy for advanced CCA remains cisplatin plus gemcitabine,with a median overall survival(mOS)under 12 months,although the TOPAZ-1 trial showed a survival benefit with the addition of programmed cell death ligand 1(PD-L1)*** recent years,molecular profiling has revealed a wealth of potentially targetable genetic alterations,including fibroblast growth factor receptor(FGFR)fusions,isocitrate dehydrogenase 1(IDH1)mutations,human epidermal growth factor receptor 2(HER2)amplification and overexpression,and microsatellite instability(MSI).These discoveries have prompted numerous clinical trials employing drugs against these specific genetic *** foundation laid by early clinical studies and the landscape of ongoing trials are both summarized *** the role of adjuvant therapy has yet to be defined in this disease,we emphasize the importance of employing targeted therapies in trials in the adjuvant and neoadjuvant spaces and discuss ways to overcome challenges due to low incidence of targetable *** medicine for this disease promises significant clinical benefit to patients,but further investigation is needed.

关键词： Cholangiocarcinoma(CCA) biliary tract cancer(BTC) targeted therapy molecular profiling

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基于脂质生物标志物评估河道型水库表层沉积物有机质来源

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湖泊科学 2024年第1期36卷 137-148,I0001页

作者：宿苧仁 emilie Jardé 尹月鹏 Marine Liotaud 张雯成都理工大学生态环境学院国家环境保护水土污染协同控制与联合修复重点实验室地质灾害防治与地质环境保护国家重点实验室成都610059 法国国家科学研究中心(雷恩第一大学) 雷恩35000

水电开发导致河岸生境破碎化程度加剧和水库沉积物截留问题日益突出,而目前关于河道型水库有机质(OM)溯源及分布特征的研究较少,进而造成OM在水库复杂环境介质中迁移机理尚不清楚。本研究将脂质生物标志物分析方法应用于大渡河瀑布沟水... 详细信息

水电开发导致河岸生境破碎化程度加剧和水库沉积物截留问题日益突出,而目前关于河道型水库有机质(OM)溯源及分布特征的研究较少,进而造成OM在水库复杂环境介质中迁移机理尚不清楚。本研究将脂质生物标志物分析方法应用于大渡河瀑布沟水库表层沉积物,经过气相色谱-质谱法对沉积物OM脂质组分进行了分析,将其量化并分为自然、成岩、热源和污水标志物4种来源。结果表明:OM平均含量坝前(10.7%±4.8%)>坝后(7.3%±0.9%)>库中(6.7%±1.8%),说明水库对沉积物OM的截留有显著影响。可提取脂质组分主要来源于自然标志物(45.9%±13.9%),碳偏好指数、陆源/水生比和陆生与水生植物输入比显示OM主要来源于陆生高等植物,占自然定量分子的70.5%±9.1%。此外,坝前汉源城镇下游D6和D7点位人为标志物(44.6%±25.1%)分子明显比自然标志物(24.2%±3.7%)含量高,并进一步通过比例研究强调了污水标志物的贡献率较为突出(31.6%±12.8%),这与该地住宅区生活污水处理设施覆盖率较低相关,表明OM污染源组成变化与水库滞留效应的耦合作用有关。

关键词：有机质水库脂质生物标志物来源分布特征

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Psychiatric outcomes in outpatients affected by long COVID:A link between mental health and persistence of olfactory complaint

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World Journal of Psychiatry 2024年第4期14卷 507-512页

作者： Victoria Metelkina-Fernandez Louise-emilie Dumas Clair Vandersteen David Chirio Auriane Gros Arnaud Fernandez Florence Askenazy Valeria Manera Department of Psychiatry Nice University HospitalNice 06000France Department of Child and Adolescent Psychiatry UniversitéCôte d’AzurNice 06200France ENT Head and Neck InstituteNice 06100France Department of Infectiology Nice University HospitalNice 06200France Department of Orthophony UniversitéCôte d’AzurNice 06100France Cobtek UniversitéCôte d’AzurNice 06100France

BACKGROUND Anosmia was one of the main symptoms of coronavirus disease 2019(COVID-19).A psychiatric history(i.e.,depression)may be an independent contributor to the risk of COVID-19 diagnosis,and COVID-19 survivors appear to have an increased risk of neuropsychiatric sequelae(bidirectional association).AIM To compare the rate of psychiatric disorder among post-COVID patients without anosmia vs patients with persistent olfactory *** We conducted a prospective case control study from March 2020 to May *** recruited at the ENT department of Nice University Hospital had a subjective olfactory complaint(visual analogue scale)for over 6 wk and a molecular or CT-proven severe acute respiratory syndrome coronavirus 2 diagnosis confirmed by ***-COVID patients without persistent olfactory disorders were recruited at the university hospital infectiology *** medical histories were collected by a psychiatrist during the *** Thirty-four patients with post-COVID-19 olfactory complaints were included in the first group of the *** percent of the patients were female(n=17).The group’s mean age was 40.5±12.9 *** control group included 32 participants,of which 34.4%were female(n=11),and had a mean age of 61.2±12.2 *** rate of psychiatric disorder among post-COVID patients with olfactory complaints was significatively higher(41.7%)than among patients without(18.8%)(χ2=5.9,P=0.015).CONCLUSION The presence of a psychiatric history may constitute a potential risk factor for the development of long COVID due to persistent *** therefore seems important to establish reinforced health monitoring after a COVID 19 infection in at-risk *** prospective,translational,and collaborative studies are needed to extrapolate these results to the general population.

关键词： COVID-19 Anosmia Psychiatry Stress Neuroplasticity Psychiatric history

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Pressure pain sensitivity: A new stress measure in children and adolescents with type 1 diabetes?

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World Journal of Clinical Pediatrics 2024年第1期13卷 150-154页

作者： Annemarie Cecilie Grauslund emilie Bundgaard Lindkvist Steffen Ullitz Thorsen Søren Ballegaard Jens Faber Jannet Svensson Anna Korsgaard Berg Department of Pediatrics Herlev and Gentofte HospitalHerlev 2730Denmark Copenhagen University Hospital Steno Diabetes Center CopenhagenHerlev 2730Denmark Department of Clinical Immunology RigshospitaletUniversity of CopenhagenCopenhagen 2100Denmark Department of Endocrinology Herlev and Gentofte HospitalHerlev 2730Denmark Department of Clinical Medicine Faculty of Health and Medical SciencesUniversity of CopenhagenCopenhagen 2200Denmark

Type 1 diabetes(T1D)is associated with general-and diabetes-specific stress which has multiple adverse *** measuring stress is of great *** algometer measuring pressure pain sensitivity(PPS)has been shown to correlate to certain stress measures in ***,it has never been investigated in children and *** aim of our study was to examine associations between PPS and glycated hemoglobin(HbA1c),salivary cortisol and two questionnaires as well as to identify whether the algometer can be used as a clinical tool among children and adolescents with ***-three participants aged 6-18 years and diagnosed with T1D were included in this study with data from two study *** cortisol,PPS and questionnaires were collected,measured,and answered on ***1c was collected from medical *** found correlations between PPS and HbA1c(rho=0.35,P=0.046),cortisol(rho=-0.25,P=0.02)and Perceived Stress Scale(rho=-0.44,P=0.02)in different subgroups based on *** scored higher in PPS than females(P<0.001).We found PPS to be correlated to HbA1c but otherwise inconsistent in *** PPS values indicated either measurement difficulties or hypersensibility towards pain.

关键词： Stress Children and adolescents Type 1 diabetes Autonomic dysfunction

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An ethically guided preclinical device for phenotyping H_(2)production in laboratory rodents

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Animal Models and Experimental Medicine 2024年第4期7卷 553-561页

作者： Victor Pascal-Moussellard emilie Boucher Stéphane Tanguy Philippe Cinquin Pierre-Alain Barraud ChloéDavin Cordélia Salomez-Ihl Dalil Hannani François Boucher Jean-Pierre Alcaraz University Grenoble Alpes CNRSUMR 5525VetAgro SupGrenoble INPTIMCGrenobleFrance

Background:Dihydrogen(H_(2))is produced endogenously by the intestinal microbiota through the fermentation of diet *** the past few years,numer-ous studies have demonstrated the significant therapeutic potential of H_(2)in various pathophysiological contexts,making the characterization of its production in labora-tory species of major preclinical ***:This study proposes an innovative solution to accurately monitor H_(2)pro-duction in free-moving rodents while respecting animal welfare *** devel-oped device consisted of a wire rodent cage placed inside an airtight chamber in which the air quality was maintained,and the H_(2)concentration was continuously *** the airtightness and efficiency of the systems used to control and maintain air quality in the chamber were checked,tests were carried out on rats and mice with different metabolic phenotypes,over 12 min to 1-h experiments and repeatedly.H_(2)production rates(HPR)were obtained using an easy calculation algorithm based on a first-order moving ***:HPR in hyperphagic Zucker rats was found to be twice as high as in control Wistar rats,respectively,2.64 and 1.27 nmol.s^(−1)per *** addition,the ingestion of inulin,a dietary fiber,stimulated H_(2)production in *** were 0.46 nmol.s^(−1)for animals under control diet and 1.99 nmol.s^(−1)for animals under inulin ***:The proposed device coupled with our algorithm enables fine analysis of the metabolic phenotype of laboratory rats or mice with regard to their endogenous H_(2)production.

关键词： hydrogen therapy laboratory rodents microbiota molecular hydrogen noninvasive monitoring device

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Cardiac Tolerance of Hydroalcoholic Extract of Bark of Terminalia mantaly H. Perrier (HAEBTM) in Wistar Rats

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American Journal of Molecular Biology 2024年第3期14卷 126-137页

作者： Irié Lou Bohila emilie Kamo Kouakou Serge Kouassi Virginie Atto Allico Joseph Djaman Jean David N’guessan Mireille Dosso Department of Microbiology Institut Pasteur of Cte dIvoire Abidjan Cte dIvoire Biology and Health Laboratory Flix Houphout-Boigny University Abidjan Cte dIvoire Department of Medical and Fundamental Biochemistry Institut Pasteur of Cte dIvoire Abidjan Cte dIvoire

Terminalia mantaly H. Perrier is a plant used in traditional medicine for the treatment of various pathologies. However, Terminalia mantaly H. Perrier could present potential health effects on patients. In order to determine the possible cardiotoxic effects of the hydro-alcoholic extract of the bark of Terminalia mantaly H. Perrier, (HAEBTM) forty (40) rats distributed randomly into 4 groups, including 10 animals per group (5 males and 5 females) were used. Animals in group 1 received distilled water and were used as a control group. On the other hand, groups 2, 3, 4 received oral administration a volume of the hydroalcoholic extract of Terminalia mantaly H. Perrier corresponding to 1 mL/100g of body weight at 150 mg/kg, 300 mg/kg, 600 mg/kg, respectively. The extract was administered daily at the same time for 28 days and serum was collected once a week to evaluate cardiac biochemical markers using spectrophotometric methods using a Cobas C311 HITACHI biochemistry system. After one month of study, all rats were euthanized by overdose of ether, and the hearts of the rats were removed for gross morphological and histopathological analysis. Results were analysed using variance analysis (ANOVA) to compare outcomes as a function of doses administered and treatment times. The biochemical parameters ALT, LDH, CPK, CPKMB showed no significant change (p Terminalia mantaly showed no lesions, edema and necrosis. These results suggest that the hydroalcoholic extract of Terminalia mantaly did not interfere with the functioning or alter the integrity of the heart.

关键词： Terminalia mantaly Bio Cardiac Tolerance Biochemical Markers Histopathology

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Quantitative interactomic of CD40 in primary B cells

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hLife 2024年第2期2卷 88-93页

作者： Jeremy Argenty emilie Maturin Mylene Camus Valentin Mellado Jeanne Perroteau Benoit Pasquier Guillaume Voisinne Odile Burlet-Schiltz Lih-Ling Lin Anne Gonzalez de Peredo Romain Roncagalli Bernard Malissen Centre d’Immunologie de Marseille-Luminy Aix Marseille UniversitéINSERMCNRSMarseilleFrance Centre d’Immunophénomique Aix Marseille UniversitéINSERMCNRS UMRMarseilleFrance Institut de Pharmacologie et de Biologie Structurale Département Biologie Structurale BiophysiqueProtéomique Génopole Toulouse Midi Pyrénées CNRS UMR 5089205 Route de NarbonneToulouse CedexFrance Checkpoint Immunology Immunology and Inflammation Therapeutic AreaSanofiVitryFrance Checkpoint Immunology Immunology and Inflammation Therapeutic AreaSanofiCambridgeUSA

INTRODUCTION Over the past few decades,antibody-based therapies have emerged as an additional tool to treat patients developing cancer and auto-immune *** natural properties of the developed antibodies may lead to agonist or blocking functions for the targeted ***,antibodies developed for clinical trials are extensively analyzed in vitro and in vivo for safety and efficacy,yet they are not routinely evaluated for their potential signaling effectiveness.

关键词： routine antibodies clinical

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Evaluation of Colorectal Cancer Management in Eastern DR Congo. About 55 Cases Were Collected from January 2002 to December 2016 Panzi General Referral Hospital

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Journal of Cancer Therapy 2024年第4期15卷 179-189页

作者： Bafunyembaka Muka Alain Kitumaini Munyahali John Ciruza Balegana Jean-Claude Lobe Lottin Michel Luhiriri Ndanda Levi Kavira Isse Somo Prisca Amisi Mangaza emilie Alumeti Munyali Desire Ahuka Ona Longombe Albert Department of Surgery H.G.R Panzi/Universit&#233 Evang&#233liqueen Afrique Bukavu DR Congo

A retrospective study was conducted at the HGR de Panzi in eastern DR Congo to determine the profile of colorectal cancer (CRC) management based on 55 cases out of 129 digestive cancers diagnosed in the digestive surgery, endoscopy, and pathology department of the HGR de Panzi from January 2002 to December 2016. The prevalence of CRC was 42.6%. The mean age of patients was 50.8 years, with a range of 20 to 81 years. The male to female ratio was 2.2. In 69.1% of cases, the patients had a low socioeconomic status, and 52.7% had a history of hemorrhoids. Rectorrhagia revealed CCR in 49.1% of cases. The mode of discovery was predominantly emergency in 69.1% of cases, and 58.20% of CRCs were diagnosed by an initial endoscopy of the lower colon. Adenocarcinoma was found in 94.5% of cases, and 45% of cases required abdominoperineal amputation. Various postoperative complications were experienced by 54.5% of patients, and 25.5% of patients died. To decrease the occurrence of these types of cancers, it is necessary to focus on early detection in the population and enhance access to primary healthcare for everyone.

关键词： Assessment Management Colorectal Cancer

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研究神经胶质细胞的新兴技术

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神经损伤与功能重建 2020年第10期15卷 F0003-F0003页

作者： Hélène Hirbec Nicole Déglon Lynette C Foo Inbal Goshen Jaime Grutzendler emilie hangen Tirzah Kreisel Nathalie Linck Julien Muffat Sara Regio Sybille Rion Carole Escartin 杜一星 Institute for Functional Genomics(IGF) University of MontpellierCNRSINSERMMontpellierFrance Laboratory of Neurotherapies and Neuromodulation Department of Clinical NeuroscienceLausanne University HospitalUniversity of LausanneLausanneSwitzerland Laboratory of Neurotherapies and Neuromodulation Neuroscience Research CenterLausanne University Hospital and University of LausanneLausanneSwitzerland Neuroimmunology and Neurodegeneration Section The Neuroscience and Rare Diseases Discovery and Translational AreaF.Hoffman-La RocheBaselSwitzerland Edmond and Lily Safra Center for Brain Sciences The Hebrew University of JerusalemJerusalemIsrael Department of Neurology Yale University School of MedicineNew HavenConnecticutUSA Department of Neuroscience Yale University School of MedicineNew HavenConnecticutUSA Commissariatà l'Energie Atomique et aux Energies Alternatives Département de la Recherche FondamentaleInstitut de Biologie François JacobMIRCenFontenay-aux-RosesFrance Centre National de la Recherche Scientifique Neurodegenerative Diseases LaboratoryUniversitéParis-SudUniversitéParis-SaclayUMR 9199Fontenay-aux-RosesFrance Program in Neurosciences and Mental Health The Hospital for Sick Childrenand Department of Molecular GeneticsThe University of TorontoTorontoCanada 不详

大脑的发育、生理功能和病理与神经元和不同类型的神经胶质细胞(如星形胶质细胞、小胶质细胞、少突胶质细胞和少突胶质细胞的前体细胞等)之间的相互作用密切相关。研究脑功能及其功能障碍,除了神经元之外,还需要对不同类型的神经胶质细... 详细信息

大脑的发育、生理功能和病理与神经元和不同类型的神经胶质细胞(如星形胶质细胞、小胶质细胞、少突胶质细胞和少突胶质细胞的前体细胞等)之间的相互作用密切相关。研究脑功能及其功能障碍,除了神经元之外,还需要对不同类型的神经胶质细胞进行研究。近年来,多项技术突破使“神经胶质科学家”能够解决新的具有挑战性的生物学问题。这些技术发展使得以中/高含量工作流研究特定细胞类型的作用成为可能,并在保存完好的环境中对其相互作用进行精细的分析。本综述阐明了几种可能揭示神经胶质细胞在特定脑功能或疾病中作用的尖端实验方法。这些实验方法包括高级细胞培养,诱导多能干细胞(iPSC)衍生的人神经胶质细胞,病毒载体,原位胶质细胞成像,光学遗传学和化学遗传学方法,以及高内涵分子分析。本文还阐述了某些技术的临床转化,通过特定的脑成像方法以监控患者的神经胶质细胞。本文亦讨论了每种技术的优点,缺陷和未来发展,并提供了选定的示例以说明现在如何可以解决特定的“胶质生物学”问题。

关键词：神经胶质细胞少突胶质细胞小胶质细胞星形胶质细胞脑功能细胞培养细胞类型脑成像

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