0000000000228628

AUTHOR

Isabella Ceccherini

showing 7 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
researchProduct

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

2017

PubMed ID: 29047407

lcsh:MedicineFamilial Mediterranean feverCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Databases Genetic; Europe; Hereditary Autoinflammatory Diseases; Humans; Retrospective Studies; Genetic Association Studies; Registries0302 clinical medicineHereditary recurrent feverInfeversDatabases GeneticPharmacology (medical)030212 general & internal medicineRegistriesGenetics (clinical)EurofeverGeneral MedicineMEFVResponse to treatmentCapHereditary recurrent fevers3. Good healthGenotype-phenotype associationTrapEuropeComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMSInformationSystems_MISCELLANEOUSInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.medical_specialtyGenotype-Phenotype AssociationInfever03 medical and health sciencesDatabasesFMFGeneticInternal medicineJournal ArticlemedicineHumansHereditary Recurrent FeversIn patientMKDTrapsGenetic Association StudiesRetrospective Studies030203 arthritis & rheumatologyGenotype-phenotype associationsbusiness.industryResearchlcsh:RComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKSHereditary Autoinflammatory DiseasesRetrospective cohort studymedicine.diseaseHuman geneticsComputingMethodologies_PATTERNRECOGNITIONCapsbusinessCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Genetics (clinical); Pharmacology (medical)
researchProduct

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report

2019

Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. “Pyogenic arthritis, pyoderma gangrenosum and acne syndrome” is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. Case presentation We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid …

MaleAbdominal painmedicine.medical_specialtyAdolescentCanakinumabFamilial Mediterranean feverArthritisCase ReportFamilial Mediterranean fever03 medical and health sciencesSettore MED/38 - Pediatria Generale E Specialistica0302 clinical medicine030225 pediatricsAcne VulgarismedicineHumans030212 general & internal medicineChildPyogenic arthritis pyoderma gangrenosum and acne syndromeArthritis InfectiousFamilial Mediterranean fever Pyogenic arthritis pyoderma gangrenosum and acne syndrome Colchicine Canakinumabbusiness.industrylcsh:RJ1-570lcsh:PediatricsPAPA syndromemedicine.diseaseMEFVDermatologyPyoderma GangrenosumCanakinumabmedicine.symptombusinessColchicineSerositisPyoderma gangrenosummedicine.drugItalian Journal of Pediatrics
researchProduct

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
researchProduct

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

2016

Seuls les 100 premiers auteurs dont les auteurs INRA ont été entrés dans la notice. La liste complète des auteurs et de leurs affiliations est accessible sur la publication.; International audience; In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues…

[SDV]Life Sciences [q-bio]autophagosomeReview Articleddc:616.07stressstreLC3MESH: AnimalsSettore MED/49 - Scienze Tecniche Dietetiche ApplicateSettore BIO/06 - Anatomia Comparata E Citologiachaperone-mediated autophagyComputingMilieux_MISCELLANEOUSSettore BIO/11Pharmacology. TherapySettore BIO/13standards [Biological Assay]autolysosomeMESH: Autophagy*/physiologylysosomemethods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIAErratumHumanBiochemistry & Molecular BiologySettore BIO/06physiology [Autophagy]Chaperonemediated autophagy[SDV.BC]Life Sciences [q-bio]/Cellular BiologyNOautophagy guidelines molecular biology ultrastructureautolysosome; autophagosome; chaperone-mediated autophagy; flux; LC3; lysosome; macroautophagy; phagophore; stress; vacuoleMESH: Biological Assay/methodsMESH: Computer Simulationddc:570Autolysosome Autophagosome Chaperonemediated autophagy Flux LC3 Lysosome Macroautophagy Phagophore Stress VacuoleAutophagyAnimalsHumansComputer SimulationSettore BIO/10ddc:612BiologyphagophoreMESH: HumansvacuoleAnimalLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole; Animals; Biological Assay; Computer Simulation; Humans; Autophagy0601 Biochemistry And Cell BiologyfluxmacroautophagyMESH: Biological Assay/standards*Human medicineLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole
researchProduct

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study

2016

Objective.The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS).Methods.Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the…

0301 basic medicineMalePathologyMonocyteGastroenterologyMonocytesInflammasome0302 clinical medicineCRYOPYRIN-ASSOCIATED PERIODIC SYNDROMEImmunology and AllergyYoung adultChildeducation.field_of_studyCRYOPYRINMiddle AgedInterleukin-1βPhenotypeArthralgiaPhenotypeChild PreschoolNational studyCytokinesFemaleHumanAdultCryopyrinmedicine.medical_specialtyAdolescentImmunologyPopulationNLR Family03 medical and health sciencesYoung AdultRheumatologyNLRP3Internal medicineNLR Family Pyrin Domain-Containing 3 ProteinmedicineHumansPreschooleducationCytokineAllele frequencyGene030203 arthritis & rheumatologybusiness.industryCryopyrin-associated periodic syndromeInfantExanthemamedicine.diseasePyrin Domain-Containing 3 ProteinCryopyrin-Associated Periodic SyndromesINTERLEUKIN-1βCryopyrin-Associated Periodic Syndrome030104 developmental biologyINFLAMMASOMEMutationCryopyrin; Cryopyrin-Associated Periodic Syndrome; Inflammasome; Interleukin-1β; NLRP3; Adolescent; Adult; Arthralgia; Child; Child Preschool; Cryopyrin-Associated Periodic Syndromes; Cytokines; Exanthema; Female; Humans; Infant; Male; Middle Aged; Monocytes; NLR Family Pyrin Domain-Containing 3 Protein; Young Adult; Mutation; PhenotypeCytokine secretionbusinessCRYOPYRIN; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME; INFLAMMASOME; INTERLEUKIN-1β; NLRP3
researchProduct

Erratum

2016

Author(s): Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Arozena, AA; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; Aghi, MK; Agnello, M; Agostinis, P; Aguilar, PV; Aguirre-Ghiso, J; Airoldi, EM; Ait-Si-Ali, S; Akematsu, T; Akporiaye, ET; Al-Rubeai, M; Albaiceta, GM; Albanese, C; Albani, D; Albert, ML; Aldudo, J; Algul, H; Alirezaei, M; Alloza, I; Almasan, A; Almonte-Beceril, M; Alnemri, ES; Alonso, C; Altan-Bonnet, N; Altieri, DC; Alvarez, S; Alvarez-Erviti, L; Alves, S; Amadoro, G; Amano, A; Amantini, C; Ambrosio, S; Amelio, I; Amer, AO; Amessou, M; Amon, A; An, Z; Anania, FA; Andersen, SU; Andley, UP; Andreadi, CK; Andrieu-Ab…

0301 basic medicineSettore BIO/06biologyCell Biology[SDV.BC]Life Sciences [q-bio]/Cellular Biologybiology.organism_classificationCell biologyInterpretation (model theory)03 medical and health sciencesArama030104 developmental biologyMolecular BiologyHumanitiesComputingMilieux_MISCELLANEOUS
researchProduct