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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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Step-up approach in emphysematous hepatitis: A case report

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World Journal of Hepatology 2022年第2期14卷 464-470页

作者： Silke Francois Maridi Aerts Hendrik Reynaert Ruth Van Lancker Johan Van Laethem Rastislav Kunda Nouredin Messaoudi Department of Gastroenterology Universitair Ziekenhuis BrusselBrussels 1090Belgium Department of Gastroenterology and Hepatology Vrije Universiteit BrusselUniversitair Ziekenhuis BrusselBrussels 1090Belgium Department of Intensive Care Vrije Universiteit BrusselUniversitair Ziekenhuis BrusselBrussels 1090Belgium Department of Infectious Diseaeses Vrije Universiteit BrusselUniversitair Ziekenhuis BrusselBrussels 1090Belgium Department of Surgery Vrije Universiteit BrusselUniversitair Ziekenhuis BrusselBrussels 1090Belgium Department of Surgery Europe HospitalsBrussels 1180Belgium

BACKGROUND Emphysematous hepatitis(EH)is a rare,rapidly progressive fulminant gasforming infection of the liver parenchyma.It is often fatal and mostly affects diabetes patients.CASE SUMMARY We report a case of EH successfully managed by a step-up approach consisting of aggressive hemodynamic support,intravenous antibiotics,and percutaneous drainage,ultimately followed by laparoscopic deroofing.Of 11 documented cases worldwide,only 1 of the patients survived,treated by urgent laparotomy and surgical debridement.CONCLUSION EH is a life-threatening infection.Its high mortality rate makes timely diagnosis essential,in order to navigate treatment accordingly.

关键词： Emphysematous hepatitis Septic shock Step-up approach Percutaneous drainage Laparoscopic deroofing Case report

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The Diagnostic and Therapeutic Challenges of Fabry Nephropathy—A Review of the Literature, Illustrated by a Clinical Case

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Open Journal of Nephrology 2023年第4期13卷 349-368页

作者： Stefan Van Cauwelaert Caroline Geers Dominique Vandervelde Esther Scheirlynck Alexander Gheldof Karl-Martin Wissing Department of Nephrology and Arterial Hypertension Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium Department of Pathology Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium Department of Nephrology H&ocircpitaux Iris-Sud (HIS) Brussels Belgium Department of Cardiology Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium Department of Medical Genetics Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium

Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, p.Ile219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for a thorough review of the literature. This revie

关键词： Fabry Disease Fabry Nephropathy Variants of Unknown Significance Diagnosis Treatment Selection Lysosomal Storage Disorder α-Galactosidase A Glycosphingolipid Accumulation Enzyme Replacement Therapy Migalastat

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Homing and migration of mesenchymal stromal cells: How to improve the efficacy of cell therapy?

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World Journal of Stem Cells 2016年第3期8卷 73-87页

作者： Ann De Becker Ivan Van Riet Department Clinical HematologyStem Cell Laboratory Universitair Ziekenhuis Brussel Vrije Universiteit Brussel (VUB)

Mesenchymal stromal cells(MSCs) are currently being investigated for use in a wide variety of clinical applications. For most of these applications, systemic delivery of the cells is preferred. However, this requires the homing and migration of MSCs to a target tissue. Although MSC hominghas been described, this process does not appear to be highly efficacious because only a few cells reach the target tissue and remain there after systemic administration. This has been ascribed to low expression levels of homing molecules, the loss of expression of such molecules during expansion, and the heterogeneity of MSCs in cultures and MSC culture protocols. To overcome these limitations, different methods to improve the homing capacity of MSCs have been examined. Here, we review the current understanding of MSC homing, with a particular focus on homing to bone marrow. In addition, we summarize the strategies that have been developed to improve this process. A better understanding of MSC biology, MSC migration and homing mechanisms will allow us to prepare MSCs with optimal homing capacities. The efficacy of therapeutic applications is dependent on efficient delivery of the cells and can, therefore, only benefit from better insights into the homing mechanisms.

关键词： Mesenchymal stromal cells Homing Bone marrow Homing receptors Extravasation

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Detecting neurodegenerative pathology in multiple sclerosis before irreversible brain tissue loss sets in

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Translational Neurodegeneration 2019年第1期8卷 466-482页

作者： Jeroen Van Schependom Kaat Guldolf Marie Béatrice D’hooghe Guy Nagels Miguel D’haeseleer Neurology Department Universitair Ziekenhuis BrusselCenter for NeurosciencesVrije Universiteit BrusselLaarbeeklaan 1011090 BrusselBelgium Radiology Department universitair ziekenhuis brussel BrusselsBelgium Nationaal Multiple Sclerose Centrum MelsbroekBelgium

Background:Multiple sclerosis(MS)is a complex chronic inflammatory and degenerative disorder of the central nervous system.Accelerated brain volume loss,or also termed atrophy,is currently emerging as a popular imaging marker of neurodegeneration in affected patients,but,unfortunately,can only be reliably interpreted at the time when irreversible tissue damage likely has already occurred.Timing of treatment decisions based on brain atrophy may therefore be viewed as suboptimal.Main body:This Narrative Review focuses on alternative techniques with the potential of detecting neurodegenerative events in the brain of subjects with MS prior to the atrophic stage.First,metabolic and molecular imaging provide the opportunity to identify early subcellular changes associated with energy dysfunction,which is an assumed core mechanism of axonal degeneration in MS.Second,cerebral hypoperfusion has been observed throughout the entire clinical spectrum of the disorder but it remains an open question whether this serves as an alternative marker of reduced metabolic activity,or exists as an independent contributing process,mediated by endothelin-1 hyperexpression.Third,both metabolic and perfusion alterations may lead to repercussions at the level of network performance and structural connectivity,respectively assessable by functional and diffusion tensor imaging.Fourth and finally,elevated body fluid levels of neurofilaments are gaining interest as a biochemical mirror of axonal damage in a wide range of neurological conditions,with early rises in patients with MS appearing to be predictive of future brain atrophy.Conclusions:Recent findings from the fields of advanced neuroradiology and neurochemistry provide the promising prospect of demonstrating degenerative brain pathology in patients with MS before atrophy has installed.Although the overall level of evidence on the presented topic is still preliminary,this Review may pave the way for further longitudinal and multimodal studies exploring the relationships between the above

关键词： Brain atrophy magnetic resonance imaging multiple sclerosis neurodegeneration neurofilaments

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生精障碍的遗传因素

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Asian Journal of Andrology 2012年第1期14卷 40-48,175页

作者： Annelien Massart Willy Lissens Herman Tournaye Katrien Stouffs Center for Medical Genetics Universitair Ziekenhuis Brussel 1090 Brussels Belgium Reproduction and Genetics （REGE） Vrije Universiteit Brussel 1090 Brussels Belgium Center for Reproductive Medicine Universitair Ziekenhuis Brussel 1090 Brussels Belgium Biology of the Testis （BITE） Vrije Universiteit Brussel 1090 Brussels Belgium

大概10％-15％的夫妇患有不孕不育，其中，男性因素导致的不育约占一半。部分是由男方的生精障碍导致的，但其根本原因，包括遗传性变异，仍知之甚少。迄今为止，男性不育症诊断中使用的唯一基因测试的目的是检测是否存在Y染色体长臂的... 详细信息

大概10％-15％的夫妇患有不孕不育，其中，男性因素导致的不育约占一半。部分是由男方的生精障碍导致的，但其根本原因，包括遗传性变异，仍知之甚少。迄今为止，男性不育症诊断中使用的唯一基因测试的目的是检测是否存在Y染色体长臂的微缺失或者染色体异常。各种其他单基因和多基因缺陷也己被提出与男性生育能力相关。但其致病作用仍有待验证。最近，全基因组技术和小鼠模型的大规模分析方面所取得的巨大进步可能有助于这方面的研究。利用基因敲除小鼠模型，至少有388个基因与小鼠生精相关的基因被发现了。但当前的主要问题在于如何把这些研究成果从小鼠转移应用到人类。

关键词：遗传因素基因男性不育精子发生

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It takes two to tango: the recruiter’s role in accepting or refusing to participate in group antenatal care among pregnant women—an exploration through in-depth interviews

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Family Medicine and Community Health 2023年第3期11卷 102-113页

作者： Florence Talrich Astrid Van Damme Hilde Bastiaens Marlies Rijnders Jochen Bergs Katrien Beeckman Department of Public Health Nursing and Midwifery Research Group(NUMID)Faculty of Medicine and PharmacyVrije Universiteit Brussel(VUB)BrusselsBelgium Department of Nursing and Midwifery Research Group(NUMID) Universitair Ziekenhuis Brussel(UZ Brussel)BrusselsBelgium Department of Family Medicine and Population Health Faculty of Medicine and Health SciencesUniversiteit AntwerpenAntwerpBelgium Department of Child Health TNOLeidenThe Netherlands Research Group of Healthcare and Ethics Faculty of Medicine and Life SciencesUniversiteit HasseltHasseltBelgium Centre for Research and Innovation in Care(CRIC) Universiteit AntwerpenAntwerpBelgium

Objective The purpose of this study was to explore how women are recruited for group antenatal care(GANC)in primary care organisations(PCOs),what elements influence the behaviour of the recruiter,and what strategies recruiters use to encourage women to participate.Method Using a qualitative research design,we conducted 10 in-depth interviews with GANC facilitators working in PCOs.Selected constructs of the domains of the Consolidated Framework for Implementation Research and the Theoretical Domains Framework helped to develop interview questions and raise awareness of important elements during interviews and thematic analyses.GANC facilitators working in multidisciplinary PCOs located in brussels and Flanders(Belgium)were invited to participate in an interview.We purposively selected participants because of their role as GANC facilitators and recruiters.We recruited GANC facilitators up until data saturation and no new elements emerged.Result We identified that the recruitment process consists of four phases or actions:identification of needs and potential obstacles for participation;selection of potential participants;recruitment for GANC and reaction to response.Depending on the phase,determinants at the level of the woman,recruiter,organisation or environment have an influence on the recruitment behaviour.Conclusion Our study concludes that it takes two to tango for successful recruitment for GANC.Potential participants’needs and wishes are of importance,but the care providers’behaviour should not be underestimated.Therefore,successful recruitment may be improved when introducing a multidisciplinary recruitment plan consisting of specific strategies,as we suggest.

关键词： interview behaviour qualitative

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肺部囊肿性纤维化疾病:在胸部X线剂量水平的CT评估

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国际医学放射学杂志 2015年第1期 71-71页

作者： C.W.Ernst I.A.Basten B.IIsen N.Buls G.Van Gompel E.De Wachter Department of Radiology Universitair Ziekenhuis Brus-selVrije Universiteit Brussel

目的探究在常规X线剂量水平下应用迭代重叠技术CT扫描评估囊肿性纤维化(CF)病人的肺部结构异常。材料与方法本研究经机构审查委员会批准,38例囊肿性纤

关键词：胸部躯干囊肿性纤维化剂量水平肺部 CT

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AME证据系列001--转化医学协会:脓毒症诊断和早期识别的临床实践指南

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临床与病理杂志 2016年第10期36卷 1467-1476页

作者： Zhongheng Zhang Nathan J.Smischney Haibo Zhang Sven Van Poucke Panagiotis Tsirigotis Jordi Rello Patrick M.Honore Win Sen Kuan Juliet June Ray Jiancang Zhou You Shang Yuetian Yu Christian Jung Chiara Robba Fabio Silvio Taccone Pietro Caironi David Grimaldi Stefan Hofer George Dimopoulos Marc Leone Sang-Bum Hong Mabrouk Bahloul Laurent Argaud Won Young Kim Herbert D.Spapen Jose Rodolfo Rocco 张建成(译) 尚游(译) 钟鸣(校) Department of Emergency Medicine Sir Run Run Shaw HospitalZhejiang University School of MedicineHangzhou 310016 Department of Critical Care Medicine Jinhua Hospital of Zhejiang UniversityJinhua Zhejiang 321000 Department of Anesthesiology Mayo ClinicRochesterMNUSA Keenan Research Center for Biomedical Science of St.Michael's Hospital Departments of Anesthesia and PhysiologyInterdepartmental Division of Critical Care MedicineUniversity of TorontoTorontoONCanada Departments of Anesthesiology Critical CareEmergency Medicine and Pain TherapyZiekenhuis Oost-Limburgy GenkBelgium 2nd Department of Internal Medicine Attikcon University HospitalMedical SchoolNational and Kapodistrian University of AthensAthensGreece CIBERES Vall d'Hebron Institut of ResearchUniversitat Autonoma de BarcelonaSpain universitair ziekenhuis brussely vrije universiteit brussel brussels BrusselsBelgium Emergency Medicine Department National University HospitalNational University Health SystemSingapore and the Department of SurgeryYong Loo Lin School of MedicineNational University of SingaporeSingapore DeWitt Daughtry Family Department of Surgery Jackson Memorial HospitalUniversity of Miami Leonard M.Miller School of MedicineMiamiFLUSA Department of Critical Care Medicine Sir Run Run Shaw HospitalZhejiang University School of MedicineHangzhou 310016 Department of Critical Care Medicine Union HospitalTongji Medical CollegueHuazhong University of Science and TechnologyWuhan 430022 Department of Critical Care Medicine Renji HospitalShanghai Jiao Tong University School of MedicineShanghai 200001 University Hospital Dusseldorf Heinrich-Heine-University DusseldorfMedical FacultyDivision of CardiologyPulmonology and Vascular MedicineDusseldorfGermany Neurosciences Critical Care Unit Addenbrooke's HospitalCambridgeUK Department of Intensive Care Hopital ErasmeUniversite Libre de Bruxelles(ULB)BrusselsBelgium Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti Fondazione IRCCS Ca'Granda-Ospedale

脓毒症是一种由感染引起的异质性疾病,感染触发了一系列复杂的局部或者全身的免疫炎症反应,引起多器官功能衰竭,发病率和病死率显著升高。由于至今仍然没有诊断脓毒症的金标准,所以脓毒症的临床诊断仍是一个难题。因此,脓毒症的临床诊... 详细信息

脓毒症是一种由感染引起的异质性疾病,感染触发了一系列复杂的局部或者全身的免疫炎症反应,引起多器官功能衰竭,发病率和病死率显著升高。由于至今仍然没有诊断脓毒症的金标准,所以脓毒症的临床诊断仍是一个难题。因此,脓毒症的临床诊断需要不断改变来满足临床和研究的要求。然而,尽管有许多新型的生物标记和筛选工具去预测脓毒症发生的风险,但是这些措施的诊断价值和有效性不足以让人满意,并且没有充分的证据去建议临床使用这些新技术。因此,脓毒症的临床诊断标准需要定期更新去适应不断产生的新证据。这篇综述旨在呈现当前脓毒症的诊断和早期识别方面的最新研究证据。临床运用不同的诊断方法的推荐意见依赖于推荐、评价、发展和评估分级体系(Grades of Recommendation Assessment,Development and Evaluation,GRADE),因为大部分的研究是观察性研究,并没有对这些方法进行可靠评估,采用的是两步推理方法。未来需要更多研究来确认或者反驳某一特殊的指标检测,同时应该直接采用相关病人的结果数据。

关键词：脓毒症早期识别诊断

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