Search results for "SKIN"

showing 10 items of 3630 documents

Expanding the clinical spectrum of mosaic BRAF skin phenotypes

2021

BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kinase of the MAP kinase pathway, resulting in cell growth and proliferation. BRAF mutations, particularly p.(Val600Glu), are frequently identified in melanoma and other human cancers5 . We report clinical presentations of three patients with postzygotic BRAF mutations in affected skin, identified by next generation sequencing (NGS).

0301 basic medicineMAPK/ERK pathwayProto-Oncogene Proteins B-rafendocrine system diseases[SDV]Life Sciences [q-bio]DermatologyDNA sequencingSerine030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineThreonineneoplasmsComputingMilieux_MISCELLANEOUSSkinKinasebusiness.industryMelanomamedicine.diseasePhenotypedigestive system diseases3. Good health030104 developmental biologyInfectious DiseasesPhenotypeMutationCancer researchbusinessSyringocystadenoma papilliferum
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Cytotoxicity of Labruscol, a New Resveratrol Dimer Produced by Grapevine Cell Suspensions, on Human Skin Melanoma Cancer Cell Line HT-144

2017

IF 2.861; International audience; A new resveratrol dimer (1) called labruscol, has been purified by centrifugal partition chromatography of a crude ethyl acetate stilbene extract obtained from elicited grapevine cell suspensions of Vitis labrusca L. cultured in a 14-liter stirred bioreactor. One dimensional (1D) and two dimensional (2D) nuclear magnetic resonance (NMR) analyses including ¹H, 13C, heteronuclear single-quantum correlation (HSQC), heteronuclear multiple bond correlation (HMBC), and correlation spectroscopy (COSY) as well as high-resolution electrospray ionisation mass spectrometry (HR-ESI-MS) were used to characterize this compound and to unambiguously identify it as a new st…

0301 basic medicineMagnetic Resonance SpectroscopySkin NeoplasmsCellPharmaceutical ScienceApoptosisResveratrolresveratrol[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyAnalytical Chemistry[ SDV.CAN ] Life Sciences [q-bio]/Cancerchemistry.chemical_compoundbioreactor0302 clinical medicineBioreactorsDrug DiscoveryStilbenesVitisCytotoxicitylabruscolMolecular StructureChemistryCommunicationVitis labrusca L.Biological activity3. Good healthmedicine.anatomical_structureBiochemistryChemistry (miscellaneous)030220 oncology & carcinogenesisMolecular MedicineDimerizationCell Survivallcsh:QD241-44103 medical and health scienceslcsh:Organic chemistryCell Line TumorPlant CellsfibroblastsmedicinemelanomaHumansViability assayPhysical and Theoretical Chemistrycytotoxic activityOrganic Chemistry[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyAntineoplastic Agents Phytogenic030104 developmental biologyApoptosisCell cultureFetal bovine serum
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Cutaneous manifestations associated with anosmia, ageusia and enteritis in SARS-CoV-2 infection - a possible pattern? Observational study and review …

2021

BACKGROUND: The cutaneous manifestations of coronavirus disease 2019 (COVID-19) have been covered insufficiently in the literature. METHODS: Thirty-nine patients admitted to the study hospital with confirmed COVID-19 who experienced various skin manifestations during hospitalization or in the convalescence period, were analysed retrospectively. RESULTS: Thirty-nine patients with COVID-19, admitted to the study hospital between 23 March and 12 September 2020, had intra-infectious rash or lesions of cutaneous vasculitis during convalescence. The most common cutaneous manifestations of COVID-19 were erythematous and erythematous papular rash. Twenty-seven of the 39 patients had anosmia (69.2%)…

0301 basic medicineMaleACE2 angiotensin‐converting enzyme 2ErythemaReceptor expressionTNF Tumor Necrosis Factor alphaInfectious and parasitic diseasesRC109-216B cells B lymphocyteslesions0302 clinical medicine030212 general & internal medicineskin and connective tissue diseasesCOVID coronavirus disease 2019media_commonEnterocolitisNK cells Natural killer cellsConvalescenceGeneral MedicineRashEnteritisInfectious DiseasesFemalemedicine.symptomCD Cluster of differentiationIHC immunohistochemistryMicrobiology (medical)medicine.medical_specialtyRT real-time reverse transcriptase–polymerase chain reactionmedia_common.quotation_subjectAnosmia030106 microbiologyAnosmiaSkin DiseasesArticle03 medical and health sciencesmedicineHumansbiopsySARS Severe acute respiratory syndrome coronavirus 2HE Hematoxylin and eosin stainRetrospective Studiescutaneous manifestationsbusiness.industrySARS-CoV-2SARS-CoV-2 infectionCOVID-19Ageusiamedicine.diseaseDermatologyPneumoniaIL 1 Interleukin 1IFN-γ Interferon γbusinessAgeusiaInternational Journal of Infectious Diseases
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Six year adalimumab efficacy in steroid-dependent Crohn's disease patients: A prospective single-center real life study.

2016

Abstract Background Adalimumab is effective in the treatment of Crohn's disease. We have already reported data on the efficacy of adalimumab in 110 steroid-dependent patients. At the end of the study 90 patients (64.5%) maintained clinical remission. Aims To assess efficacy and safety of adalimumab after 6 years in patients of the original cohort who responded to treatment. Methods The present study is an extension of the published paper on 90/110 patients. We report results on clinical remission and safety of 6 year maintenance therapy with adalimumab. Results Of the original cohort 90 patients completed the study, 17 were lost to follow-up and 3 died. At the end of follow-up (74.16 ± 10.3…

0301 basic medicineMaleAnti-Inflammatory AgentsKaplan-Meier EstimateSingle CenterInflammatory bowel diseaseInflammatory bowel disease0302 clinical medicineMaintenance therapyCrohn DiseaseLong term therapyProspective Studiesskin and connective tissue diseasesProspective cohort studyMultivariate AnalysiCrohn's diseaseRemission InductionGastroenterologyMiddle AgedCrohn's diseaseAnti-Inflammatory AgentTreatment OutcomeItalyCohort030211 gastroenterology & hepatologyFemaleSteroidsHumanmedicine.drugmusculoskeletal diseasesAdultmedicine.medical_specialtySteroid dependencyMaintenance Chemotherapy03 medical and health sciencesInternal medicinemedicineAdalimumabHumansAdverse effectSteroidHepatologybusiness.industryAdalimumabmedicine.diseaseSurgeryProspective Studie030104 developmental biologyMultivariate AnalysisbusinessDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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Multidisciplinary management of stage II-III gastric and gastro-oesophageal junction cancer.

2019

The aim of this manuscript is to discuss the viewpoint of the European Organisation for Research and Treatment of Cancer (EORTC) Gastric Cancer Taskforce and Japan Clinical Oncology Group (JCOG) Gastric Cancer Study Group on the current challenges in the multidisciplinary management of stage II-III gastric and gastro-oesophageal junction (GEJ) cancer. We seek to outline how these challenges are addressed in current trials of both groups. Key elements of future trials of EORTC and JCOG in this indication are described, and a joint vision on how multidisciplinary research of gastric and GEJ cancer patients should be organised is outlined. ispartof: EUROPEAN JOURNAL OF CANCER vol:124 pages:67-…

0301 basic medicineMaleCancer ResearchEsophageal NeoplasmsADJUVANT CHEMOTHERAPY0302 clinical medicineEUROPEAN ORGANIZATIONMultidisciplinary approachGastricPerioperativeStage (cooking)AdjuvantClinical OncologyMISMATCH REPAIR DEFICIENCYdigestive oral and skin physiologyGastro oesophageal junctionOPEN-LABELPrognosisJCOGhumanitiesEORTCOncology030220 oncology & carcinogenesisCLINICAL-RESEARCHFemaleImmunotherapyEsophagogastric JunctionRANDOMIZED PHASE-IILife Sciences & Biomedicinemedicine.medical_specialtyStage ii03 medical and health sciencesStomach NeoplasmsmedicineChemotherapyHumansNeoplasm StagingScience & Technologybusiness.industryPERIOPERATIVE CHEMOTHERAPYGeneral surgeryCancerADENOCARCINOMAPLUS OXALIPLATINmedicine.diseaseSurvival Analysisdigestive system diseases030104 developmental biologyNeoplasm stagingbusinessTRIAL DESIGNEuropean journal of cancer (Oxford, England : 1990)
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Increased Consumption of Virgin Olive Oil, Nuts, Legumes, Whole Grains, and Fish Promotes HDL Functions in Humans

2019

[Scope] To evaluate whether increases in the consumption of cardioprotective food groups (virgin olive oil, nuts, fruits/vegetables, legumes, whole grains, fish, and wine) are associated with improvements in high‐density lipoprotein (HDL) functions in high cardiovascular risk subjects.

0301 basic medicineMaleDiet MediterraneanLegumes and grainsWhole grainsFood group03 medical and health scienceschemistry.chemical_compoundCholesterylester transfer proteinFish ProductsVegetablesVirgin olive oilHumansNutsFood scienceOlive OilLegumeAgedHigh‐density lipoprotein functionalityWhole Grains030109 nutrition & dieteticsbiologyChemistryCholesteroldigestive oral and skin physiologyfood and beveragesFabaceaeMiddle Aged030104 developmental biologyFishCardiovascular Diseasesbiology.proteinFish <Actinopterygii>FemaleLipoproteins HDLFood ScienceBiotechnologyLipoproteinOlive oil
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Benign nocturnal alternating hemiplegia of childhood

2018

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

0301 basic medicineMaleExome sequencingPediatricsmedicine.medical_specialtyHeterozygoteHemiplegiaNerve Tissue ProteinsPATIENTSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciences0302 clinical medicinePRRT2 MUTATIONSmedicineHumansIctalPAROXYSMAL KINESIGENIC DYSKINESIAFamily historyPRRT2 geneExome sequencingCryingbusiness.industryAlternating hemiplegia of childhoodInfantMembrane ProteinsGeneral MedicineParoxysmal dyskinesiamedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]GENESleep deprivation030104 developmental biologyPhenotypeTreatment OutcomeSYNAPTIC-TRANSMISSIONMigraineMIGRAINEChild PreschoolPediatrics Perinatology and Child HealthDisease ProgressionNeurology (clinical)medicine.symptombusinessINFANTILE CONVULSIONS030217 neurology & neurosurgeryGene DeletionBenign nocturnal alternating hemiplegia of childhoodEuropean Journal of Paediatric Neurology
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Providing choice and/or variety during a meal: Impact on vegetable liking and intake

2016

Food choice is defined as providing the opportunity for an individual to select the food he or she wants to consume while food variety is defined as providing an individual with foods that differ on at least one sensory characteristic. Literature shows that providing food choice or providing food variety may increase meal enjoyment and food intake. However, these two factors have been mainly investigated separately, while they may actually co-occur in real-life settings. In fact, in many out-of-home catering situations, individuals have the possibility to choose as many dishes as they desire from among different proposals for their meal. The aim of the present study was to assess the impact…

0301 basic medicineMaleFood intakerepas[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionFood choiceFood likingmealFood varietyChoice BehaviorBody Mass IndexToxicologyEatingFood intakeSurveys and QuestionnairesFood choiceVegetablesPlate clearersIntrinsic motivationchildrens likingPalatabilityMealsintrinsic motivationGeneral Psychologychoice2. Zero hungerMealNutrition and Dieteticsdigestive oral and skin physiologyfood-intakevarietyrandomized controlled-trialFemalePsychologyeffective strategyAdultpleasureplaisirnormal-weight03 medical and health sciencesFood PreferencesYoung AdultacceptabilityLunch timeHumansEating behaviorconsumption030109 nutrition & dieteticsfoodBody WeightplateVariety (linguistics)Diet[SDV.AEN] Life Sciences [q-bio]/Food and Nutritionpalatability[SDV.AEN]Life Sciences [q-bio]/Food and NutritionOlive oil
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Functional Interactions between Gut Microbiota Transplantation, Quercetin, and High-Fat Diet Determine Non-Alcoholic Fatty Liver Disease Development …

2019

Scope Modulation of intestinal microbiota has emerged as a new therapeutic approach for non-alcoholic fatty liver disease (NAFLD). Herein, it is addressed whether gut microbiota modulation by quercetin and intestinal microbiota transplantation can influence NAFLD development. Methods and results Gut microbiota donor mice are selected according to their response to high-fat diet (HFD) and quercetin in terms of obesity and NAFLD-related biomarkers. Germ-free recipients displayed metabolic phenotypic differences derived from interactions between microbiota transplanted, diets, and quercetin. Based on the evaluation of hallmark characteristics of NAFLD, it is found that gut microbiota transplan…

0301 basic medicineMaleInflammasomesmedicine.medical_treatmentBiologyGut floraDiet High-Fatdigestive system03 medical and health scienceschemistry.chemical_compoundVerrucomicrobiaNon-alcoholic Fatty Liver DiseasemedicineAnimalsObesity030109 nutrition & dieteticsPrebioticdigestive oral and skin physiologyFatty livernutritional and metabolic diseasesAkkermansiaFecal Microbiota Transplantationbiology.organism_classificationmedicine.diseaseFatty Acids VolatileObesityPhenotypedigestive system diseasesEndotoxemiaGastrointestinal MicrobiomeTransplantationMice Inbred C57BL030104 developmental biologychemistryLiverImmunologyQuercetinInsulin ResistanceQuercetinFood ScienceBiotechnologyMolecular nutritionfood research
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Chronic skin inflammation leads to bone loss by IL-17-mediated inhibition of Wnt signaling in osteoblasts

2016

Item does not contain fulltext Inflammation has important roles in tissue regeneration, autoimmunity, and cancer. Different inflammatory stimuli can lead to bone loss by mechanisms that are not well understood. We show that skin inflammation induces bone loss in mice and humans. In psoriasis, one of the prototypic IL-17A-mediated inflammatory human skin diseases, low bone formation and bone loss correlated with increased serum IL-17A levels. Similarly, in two mouse models with chronic IL-17A-mediated skin inflammation,K14-IL17A(ind)andJunB(Deltaep), strong inhibition of bone formation was observed, different from classical inflammatory bone loss where osteoclast activation leads to bone deg…

0301 basic medicineMaleInflammationModels BiologicalOsteocytesBone resorptionEpithelium03 medical and health sciences0302 clinical medicineOsteoclastOsteogenesismedicineAnimalsHumansPsoriasisCell LineageBone ResorptionWnt Signaling PathwaySkin030203 arthritis & rheumatologyInflammationOsteoblastsChemistryInnate lymphoid cellInterleukin-17Wnt signaling pathwayOsteoblastGeneral MedicineMiddle AgedMice Inbred C57BL030104 developmental biologymedicine.anatomical_structureGene Expression RegulationOsteocyteImmunologyChronic DiseaseCancer researchFemaleInterleukin 17medicine.symptomInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]Science Translational Medicine
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