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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 malformations.SWS usually presents as a facial port-wine birthmark,with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities.The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma.SWS 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 pathways.We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices,the latest pathophysiological insights,and the potential novel therapeutic avenues they provide.Data 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 SWS.The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma.Glaucoma presents in either in infancy(0–3 years of age)or later in life.Neurological complications are common in SWS,occurring in about 70%–80%of patients,with seizures being the most common one.SWS significantly impacts the quality of life for patients and their families,and requires a multidisciplinary approach for diagnosis and treatment.Currently,no disease-modifying therapies exist,and treatment is mostly focused on symptoms or complications as they arise.Conclusions SWS remains a complex and heterogeneous disorder.Further research is needed to optimize diagnostic and therapeutic strategies,and to translate insights from molecular pathogenesis to clin

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

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Role of near-infrared fluorescence in colorectal surgery

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World Journal of Gastroenterology 2021年第31期27卷 5189-5200页

作者： Elodie Zocola Jeremy Meyer Niki Christou emilie liot Christian Toso Nicolas Christian Buchs Frederic Ris Medical School University of GenevaGenève 1205Switzerland Division of Digestive Surgery University Hospitals of GenevaGenève 1205Switzerland Service de Chirurgie Digestive Endocrinienne et GénéraleCHU de LimogesLimoges Cedex 87025France

Near-infrared fluorescence(NIRF)is a technique of augmented reality that,when applied in the operating theatre,allows the colorectal surgeon to visualize and assess bowel vascularization,to identify lymph nodes draini... 详细信息

关键词： Fluorescence Enhanced reality Anastomotic leak Ureter Anastomosis

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Reducing anastomotic leak in colorectal surgery: The old dogmas and the new challenges

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World Journal of Gastroenterology 2019年第34期25卷 5017-5025页

作者： Jeremy Meyer Surennaidoo Naiken Niki Christou emilie liot Christian Toso Nicolas Christian Buchs Frédéric Ris Division of Digestive Surgery University Hospitals of Geneva

Anastomotic leak(AL)constitutes a significant issue in colorectal surgery,and its incidence has remained stable over the last years.The use of intra-abdominal drain or the use of mechanical bowel preparation alone have been proven to be useless in preventing AL and should be abandoned.The role or oral antibiotics preparation regimens should be clarified and compared to other routes of administration,such as the intravenous route or enema.In parallel,preoperative antibiotherapy should aim at targeting collagenase-inducing pathogens,as identified by the microbiome analysis.AL can be further reduced by fluorescence angiography,which leads to significant intraoperative changes in surgical strategies.Implementation of fluorescence angiography should be encouraged.Progress made in AL comprehension and prevention might probably allow reducing the rate of diverting stoma and conduct to a revision of its indications.

关键词： Anastomotic leakage Rectal surgery Colic surgery Prevention Surgical site infection Anastomosis Complication

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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 complaints.METHODS We conducted a prospective case control study from March 2020 to May 2021.Patients 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 serology.Post-COVID patients without persistent olfactory disorders were recruited at the university hospital infectiology department.Psychiatric medical histories were collected by a psychiatrist during the assessments.RESULTS Thirty-four patients with post-COVID-19 olfactory complaints were included in the first group of the study.Fifty percent of the patients were female(n=17).The group’s mean age was 40.5±12.9 years.The control group included 32 participants,of which 34.4%were female(n=11),and had a mean age of 61.2±12.2 years.The 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 anosmia.It therefore seems important to establish reinforced health monitoring after a COVID 19 infection in at-risk patients.Further 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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Biological mesh reconstruction of the pelvic floor following abdominoperineal excision for cancer:A review

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World Journal of Clinical Oncology 2017年第3期8卷 249-254页

作者： Boris Schiltz Nicolas Christian Buchs Marta Penna Cosimo Riccardo Scarpa emilie liot Philippe Morel Frederic Ris Division of Visceral Surgery Department of SurgeryUniversity Hospitals of Geneva Department of Colorectal Surgery Churchill HospitalOxford University Hospitals

Extralevator abdominoperineal excision and pelvic exenteration are mutilating operations that leave wide perineal wounds.Such large wounds are prone to infection and perineal herniation,and their closure is a major concern to most surgeons.Different approaches to the perineal repair exist,varying from primary or mesh closure to myocutaneous flaps.Each technique has its own associated advantages and potential complications and the ideal approach is still debated.In the present study,we reviewed the current literature and our own local data regarding the use of biological mesh for perineal wound closure.Current evidence suggests that the use of biological mesh carries an acceptable risk of wound complications compared to primary closure and is similar to flap reconstruction.In addition,the rate of perineal hernia is lower in early follow-up,while long-term hernia occurrence appears to be similar between the different techniques.Finally,it is an easy and quick reconstruction method.Although more expensive than primary closure,the cost associated with the use of a biological mesh is at least equal,if not less,than flap reconstruction.

关键词： Biological mesh Rectal cancer Pelvic exenteration Abdominoperineal resection Primary perineal wound closure Perineal wound infection Perineal hernia

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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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Comment on: Should a colonoscopy be offered routinely to patients with CT proven acute diverticulitis? A retrospective cohort study and meta-analysis of best available evidence

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World Journal of Gastrointestinal Endoscopy 2020年第9期12卷 320-322页

作者： Jeremy Meyer Nicolas Christian Buchs Boris Schiltz emilie liot Frédéric Ris Division of Digestive Surgery University Hospitals of GenevaGenève 1211Switzerland

Latest evidence indicates that patients with acute diverticulitis have higher prevalence of colorectal cancer than reference patients.Therefore,colonoscopy should be offered after an episode of acute diverticulitis.

关键词： Colorectal cancer Adenoma Polyp Diverticulitis Colonoscopy Endoscopy

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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 effects.Hence measuring stress is of great importance.An algometer measuring pressure pain sensitivity(PPS)has been shown to correlate to certain stress measures in adults.However,it has never been investigated in children and adolescents.The 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 T1D.Eighty-three participants aged 6-18 years and diagnosed with T1D were included in this study with data from two study visits.Salivary cortisol,PPS and questionnaires were collected,measured,and answered on site.HbA1c was collected from medical files.We 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 age.Males scored higher in PPS than females(P<0.001).We found PPS to be correlated to HbA1c but otherwise inconsistent in results.High 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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Quantitative interactomic of CD40 in primary B cells

hLife

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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 diseases.The natural properties of the developed antibodies may lead to agonist or blocking functions for the targeted molecule.Thus,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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