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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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Adhesion performance of alkali-activated material for 3-dimensional printing of tunnel linings at different temperatures

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Frontiers of Structural and Civil Engineering 2024年第1期18卷 66-79页

作者： Yaxin TAO Xiaodi DAI Geert de SCHUTTEr Kim van TITTELBOOM department of Structural Engineering and Building Materials Ghent UniversityGhent 9052Belgium

robotic-based technologies such as automated spraying or extrusion-based 3-dimensional(3D)concrete printing can be used to build tunnel linings,aiming at reducing labor and mitigating the associated safety issues,especially in the high-geothermal environment.Extrusion-based 3D concrete printing(3DCP)has additional advantages over automated sprayings,such as improved surface quality and no rebound.However,the effect of different temperatures on the adhesion performance of 3D-printed materials for tunnel linings has not been investigated.This study developed several alkali-activated slag mixtures with different activator modulus ratios to avoid the excessive use of Portland cement and enhance sustainability of 3D printable materials.The thermal responses of the mixtures at different temperatures of 20 and 40℃ were studied.The adhesion strength of the alkali-activated material was evaluated for both early and later ages.Furthermore,the structural evolution of the material exposed to different temperatures was measured.This was followed by microstructure characterization.results indicate that elevated temperatures accelerate material reactions,resulting in improved early-age adhesion performance.Moreover,higher temperatures contribute to the development of a denser microstructure and enhanced mechanical strength in the hardened stage,particularly in mixtures with higher silicate content.

关键词： alkali-activated material 3DCP tunnel lining high-geothermal environment adhesion

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Nonsteroidal anti-inflammatory drugs before endoscopic ultrasound guided tissue acquisition to reduce the incidence of post procedural pancreatitis

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World Journal of Gastroenterology 2024年第8期30卷 811-816页

作者： Mike de Jong Foke van delft Christine roozen Erwin-Jan van Geenen Tanya Bisseling Peter Siersema Marco Bruno department of Gastroenterology and Hepatology Radboud University Medical CenterNijmegen 6525 GANetherlands department of Gastroenterology and Hepatology Erasmus University Medical CenterRotterdam 3015 GDNetherlands

Endoscopic ultrasound(EUS)with fine needle aspiration or fine needle biopsy is the gold standard for sampling tissue to diagnose pancreatic cancer and auto-immune pancreatitis or to analyze cyst fluid.The most common reported adverse event of fine needle aspiration and/or fine needle biopsy is acute pancreatitis,which is likely induced by the same pathophysiological mechanisms as after en-doscopic retrograde cholangiopancreatography(ErCP).According to the current European Society of Gastrointestinal Endoscopy guideline,nonsteroidal anti-inflammatory drugs are administered prior to ErCP as a scientifically proven treatment to reduce post-ErCP pancreatitis incidence rate.A single suppository of diclofenac or indomethacin prior to EUS guided tissue acquisition(TA)is harm-less in healthy adults.Since it is associated with low costs and,most important,may prevent a dreadsome complication,we strongly recommend the adminis-tration of 100 mg diclofenac rectally prior to EUS-TA.We will explain this recom-mendation in more detail in this review as well as the risk and pathophysiology of post-EUS TA pancreatitis.

关键词： Pancreatitis Endoscopic ultrasound Tissue acquisition Nonsteroidal antiinflammatory drugs Pancreatic cancer

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Epidemiology of insertional and midportion Achilles tendinopathy in runners:A prospective cohort study

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Journal of Sport and Health Science 2024年第2期13卷 256-263页

作者： Wenbo Chen Kyra L.A.Cloosterman Sita M.A.Bierma-Zeinstra Marienke van Middelkoop robert-Jan de Vos department of Orthopaedic Surgery and Sports Medicine Erasmus MC University Medical CenterRotterdam 3015GDthe Netherlands department of General Practice Erasmus MC University Medical CenterRotterdam 3015GDthe Netherlands department of Sports Medicine Huashan HospitalFudan UniversityShanghai 200040China

Background:Achilles tendinopathy(AT)is a common problem among runners.There is only limited evidence for risk factors for AT,and most studies have not defined the AT subcategories.No study has compared the incidence and risk factors between insertional AT and midportion AT,though they are considered distinct.This study aimed to assess incidence and risk factors of AT based on data from a large prospective cohort.The secondary aim was to explore differences in risk factors between insertional and midportion AT.Methods:Participants were recruited from among registered runners at registration for running events.Questionnaires were completed at baseline,1 month before the event,1 week before the event,and 1 month after the event.Information concerning demographics,training load,registered events,and running-related injuries were collected at baseline.The follow-up questionnaires collected information about new injuries.A pain map was used to diagnose midportion and insertional AT.The primary outcome was the incidence of AT.Multivariable logistic regression analysis was applied to identify risk factors for the onset.results:We included 3379 participants with a mean follow-up of 20.4 weeks.The incidence of AT was 4.2%.The proportion of insertional AT was 27.7%and of midportion AT was 63.8%;the remaining proportion was a combined type of insertional and midportion AT.Men had a significantly higher incidence(5%,95%confidence interval(95%CI):4.1%-6.0%)than women(2.8%,95%CI:2.0%-3.8%).AT in the past12 months was the most predominant risk factor for new-onset AT(odds ratio(Or)=6.47,95%CI:4.27-9.81).This was similar for both subcategories of AT(insertional:Or=5.45,95%CI:2.51-11.81;midportion:Or=6.96,95%CI:4.24-11.40).Participants registering for an event with a distance of 10/10.55 km were less likely to develop a new-onset AT(Or=0.59,95%CI:0.36-0.97)or midportion AT(Or=0.47,95%CI:0.23-0.93).Higher age had a significant negative association with insertional AT(Or=0.97,95%CI:0.94-1.00).Conclusion:The incidence of new-onset AT

关键词： Achilles tendon injury Incidence risk factor running-related injury

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A new perspective on intervertebral disc calcification—from bench to bedside

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Bone research 2024年第1期12卷 50-61页

作者： Emanuel J.Novais rajkishen Narayanan Jose A.Canseco Koen van de Wetering Christopher K.Kepler Alan S.Hilibrand Alexander r.Vaccaro Makarand V.risbud department of Orthopaedic Surgery Sidney Kimmel Medical CollegeThomas Jefferson UniversityPhiladelphiaPAUSA Unidade Local de Saúde do Litoral Alentejano Orthopedic DepartmentSantiago do CacémPortugal rothman Orthopedic Institute at Thomas Jefferson University PhiladelphiaPAUSA

Disc degeneration primarily contributes to chronic low back and neck pain.Consequently,there is an urgent need to understand the spectrum of disc degeneration phenotypes such as fibrosis,ectopic calcification,herniation,or mixed phenotypes.Amongst these phenotypes,disc calcification is the least studied.Ectopic calcification,by definition,is the pathological mineralization of soft tissues,widely studied in the context of conditions that afflict vasculature,skin,and cartilage.Clinically,disc calcification is associated with poor surgical outcomes and back pain refractory to conservative treatment.It is frequently seen as a consequence of disc aging and progressive degeneration but exhibits unique molecular and morphological characteristics:hypertrophic chondrocyte-like cell differentiation;TNAP,ENPP1,and ANK upregulation;cell death;altered Pi and PPi homeostasis;and local inflammation.recent studies in mouse models have provided a better understanding of the mechanisms underlying this phenotype.It is essential to recognize that the presentation and nature of mineralization differ between AF,NP,and EP compartments.Moreover,the combination of anatomic location,genetics,and environmental stressors,such as aging or trauma,govern the predisposition to calcification.Lastly,the systemic regulation of calcium and Pi metabolism is less important than the local activity of PPi modulated by the ANK-ENPP1 axis,along with disc cell death and differentiation status.While there is limited understanding of this phenotype,understanding the molecular pathways governing local intervertebral disc calcification may lead to developing disease-modifying drugs and better clinical management of degeneration-related pathologies.

关键词： degeneration metabolism intervertebral

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The shear strength of the interface between artificial rock and printed concrete at super-early ages

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Frontiers of Structural and Civil Engineering 2024年第1期18卷 51-65页

作者： Yong Yuan Xiaoyun Wang Jiao-Long Zhang Yaxin Tao Kim van Tittelboom Luc Taerwe Geert de Schutter College of Civil Engineering Tongji UniversityShanghai 200092China State Key Laboratory of Disaster reduction in Civil Engineering Tongji UniversityShanghai 200092China Belgium-China Joint Laboratory for Industrialized Construction Tongji UniversityShanghai 200092China Magnel-vandepitte Laboratory for Structural Engineering and Building Materials Ghent UniversityGhent 9052Belgium

3D concrete printing has the potential to replace shotcrete for construction of linings of tunnels in hard rock.The shear strength of the interface between rock and printed concrete is vital,especially at super-early ages.However,traditional methods for testing the shear strength of the interface,e.g.,the direct shear test,are time-consuming and result in a high variability for fast-hardening printed concrete.In this paper,a new fast bond shear test is proposed.Each test can be completed in 1 min,with another 2 min for preparing the next test.The influence of the matrix composition,the age of the printed matrices,and the interface roughness of the artificial rock substrate on the shear strength of the interface was experimentally studied.The tests were conducted at the age of the matrices at the 1st,the 4th,the 8th,the 16th,the 32nd,and the 64th min after its final setting.A dimensionless formula was established to calculate the shear strength,accounting for the age of the printed matrices,the interface roughness,and the shear failure modes.It was validated by comparing the calculated results and the experimental results of one group of samples.

关键词： rock tunnel printed concrete interface fast bond shear test shear strength

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CD4^(+)T cells produce IFN-I to license cDC1s for induction of cytotoxic T-cell activity in human tumors

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Cellular & Molecular Immunology 2024年第4期21卷 374-392页

作者： Xin Lei Daniël C.de Groot Marij J.P.Welters Tom de Wit Ellen Schrama Hans van Eenennaam Saskia J.Santegoets Timo Oosenbrug Annemarthe van der Veen Joris L.Vos Charlotte L.Zuur Noel F.C.C.de Miranda Heinz Jacobs Sjoerd H.van der Burg Jannie Borst Yanling Xiao department of Immunology Leiden University Medical CenterLeidenThe Netherlands Oncode Institute Leiden University Medical CenterLeidenThe Netherlands department of Tumor Biology and Immunology The Netherlands Cancer InstituteAmsterdamThe Netherlands department of Medical Oncology Oncode InstituteLeiden University Medical CenterLeidenThe Netherlands IMMIOS B.V. OssThe Netherlands Division of Medical Oncology The Netherlands Cancer InstituteAmsterdamThe Netherlands department of Otorhinolaryngology Leiden University Medical Center LeidenThe Netherlands department of Pathology Leiden University Medical CenterLeidenThe Netherlands

CD4^(+)T cells can"help"or"license" conventional type 1 dendritic cells(cDC1s)to induce CD8^(+)cytotoxic T lymphocyte(CTL)anticancer responses,as proven in mouse models.We recently identified cDC1s with a transcriptomic imprint of CD4^(+)T-cell help,specifically in T-cell-infiltrated human cancers,and these cells were associated with a good prognosis and response to PD-1-targeting immunotherapy.Here,we delineate the mechanism of cDC1 licensing by CD4^(+)T cells in humans.Activated CD4^(+)T cells produce IFNβvia the STING pathway,which promotes MHC-I antigen(cross-)presentation by cDC1s and thereby improves their ability to induce CTL anticancer responses.In cooperation with CD40 ligand(L),IFNβalso optimizes the costimulatory and other functions of cDC1s required for CTL response induction.IFN-I-producing CD4^(+)T cells are present in diverse T-cell-infiltrated cancers and likely deliver“help”signals to CTLs locally,according to their transcriptomic profile and colocalization with“helped/licensed”cDCs and tumor-reactive CD8^(+)T cells.In agreement with this scenario,the presence of IFN-I-producing CD4^(+)T cells in the TME is associated with overall survival and the response to PD-1 checkpoint blockade in cancer patients.

关键词： CD4^(+)T-cell help cDC1 licensing IFN-I signaling CD40 costimulation (cross-)presentation CTL priming Tumor control

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Structural changes in the obese brain

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Neural regeneration research 2024年第12期19卷 2561-2562页

作者： Anna r.r.Da Conceicao Marcelo N.N.Vieira Fernanda G.de Felice D’Or Institute for research and Education Rio de JaneiroBrazil Institute of Medical Biochemistry Leopoldo de Meis Federal University of Rio de JaneiroRio de JaneiroBrazil Centre for Neuroscience Studies Department of Biomedical and Molecular Sciences&Department of PsychiatryQueen’s UniversityKingstonONCanada

Obesity represents a major global health concern,with widespread growing prevalence and severe consequences for the quality of life and life expectancy of affected individuals and for the economic burden of healthcare systems(Prospective Studies Collaboration,2009).Obesity is a well-established risk factor for a variety of conditions including metabolic,vascula r,and heart diseases,and seve ral types of cancer(Prospective Studies Collaboration,2009).

关键词： diseases consequences prevalence

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Excess dietary Lys reduces feed intake, stimulates jejunal CCK secretion and alters essential and non‑essential blood AA profile in pigs

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Journal of Animal Science and Biotechnology 2024年第3期15卷 1336-1346页

作者： Maximiliano Muller Elout van Liefferinge Alan Tilbrook robert van Barneveld Eugeni roura Centre for Nutrition and Food Sciences Queensland Alliance for Agriculture and Food InnovationThe University of QueenslandBrisbaneQueensland 4072Australia Laboratory of Animal Nutrition and Animal Product Quality(LANUPrO) Department of Animal Sciences and Aquatic EcologyGhent University339000 GhentFlandersBelgium Centre for Animal Science Queensland Alliance for Agriculture and Food Innovation and the School of Veterinary ScienceThe University of QueenslandBrisbaneQueensland 4072Australia SunPork Group BrisbaneQueensland 4009Australia

Background Commercial diets are frequently formulated to meet or exceed nutrient levels including those of lim-iting essential amino acids(AA)covering potential individual variations within the herd.However,the provision of dietary excess of AA,such as Lys,may lead to reduced appetite and growth in pigs.The mechanisms modulat-ing these responses have not been extensively investigated.This study evaluated the effect of Lys dietary excesses on performance and satiety biomarkers in post weaning pigs.Methods Twenty-four pigs aged 21 d and weighing 6.81±0.12kg(mean±SEM)were individually housed and offered 1 of 4 dietary treatments for 3weeks:a diet containing a standardized ileal digestible Lys reaching 100%(T0),120%(T1),150%(T2)or 200%(T3)of the NrC(2012)requirements.At the end of the experiment,blood samples from the cephalic vein of the T0 and T3 groups were obtained for AA analysis.In addition,primary intestinal cultures from T0 pigs were used,following their humane killing,to evaluate the effect of Lys on gut hormone secretion and AA sensors gene expression under ex vivo conditions.results Feed intake was linearly reduced(Pratio reduced(Preased dietary levels of Lys during the third-and first-week post weaning,respectively.Cholecystokinin con-centration(Propic glutamate receptor 1 and the solute carrier family 7 member 2(Pression was enhanced in proximal jejunum tissues incubated with Lys at 20mmol/L when compared to the control(Lys 0mmol/L).Plasma Lys and Glu(Pration increased in the T3 compared to T0 pigs.In contrast,plasma levels of His,Val,Thr,Leu(Pre lower in T3 than T0 pigs.Conclusion The present results confirm that excess dietary Lys inhibits hunger in pigs.Moreover,the results provide evidence of pre-and post-absorptive mechanisms modulating these responses.Lys dietary excesses should be nar-rowed,when possible,to avoid negative effects of the AA on appetite in pigs.

关键词： Amino acid Blood Cholecystokinin Feed intake Lysine Pig Satiety

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Stereotactic body radiotherapy in pancreatic adenocarcinoma

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Hepatobiliary & Pancreatic Diseases International 2024年第1期23卷 14-19页

作者： Carolina de la Pinta radiation Oncology department Ramón y Cajal University HospitalIRYCISAlcaláUniversity28034 MadridSpain

Background:Stereotactic body radiotherapy(SBrT)in pancreatic cancer allows high delivery of radiation doses on tumors without affecting surrounding tissue.This review aimed at the SBrT application in the treatment of pancreatic cancer.Data sources:We retrieved articles published in MEDLINE/PubMed from January 2017 to december 2022.Keywords used in the search included:“pancreatic adenocarcinoma”Or“pancreatic cancer”AND“stereotactic ablative radiotherapy(SABr)”Or“stereotactic body radiotherapy(SBrT)”Or“chemoradiotherapy(CrT)”.English language articles with information on technical characteristics,doses and fractionation,indications,recurrence patterns,local control and toxicities of SBrT in pancreatic tumors were included.All articles were assessed for validity and relevant content.results:Optimal doses and fractionation have not yet been defined.However,SBrT could be the standard treatment in patients with pancreatic adenocarcinoma in addition to CrT.Furthermore,the combination of SBrT with chemotherapy may have additive or synergic effect on pancreatic adenocarcinoma.Conclusions:SBrT is an effective modality for patients with pancreatic cancer,supported by clinical practice guidelines as it has demonstrated good tolerance and good disease control.SBrT opens a possibility of improving outcomes for these patients,both in neoadjuvant treatment and with radical intent.

关键词： Chemoradiotherapy Pancreatic adenocarcinoma radiotherapy Stereotactic body radiotherapy Stereotactic ablative radiotherapy

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