0000000000614778

AUTHOR

Giampaolo Merlini

showing 4 related works from this author

Amyloidosis and Ocular Involvement: an Overview.

2019

Purpose: To describe the ophthalmic manifestations of amyloidosis and the corresponding therapeutic measures.Methods: The 178 patients included in the study had different types of amyloidosis, diagnosed at a single internal medicine institution (Bari, Italy). To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland).Results: Overall, ocular morbidity was detected in 41 of the 178 patients w…

MalePathologymedicine.medical_specialtygenetic structuresEye Diseasesmedicine.medical_treatmentCorneal dystrophyDiagnostic Techniques OphthalmologicalEye03 medical and health sciences0302 clinical medicineAA amyloidosismedicineAL amyloidosisHumansCorneal transplantationCorneal epitheliumRetrospective Studiesbiologybusiness.industryAmyloidosisGeneral MedicineAmyloidosisMiddle Agedmedicine.diseaseeye diseases3. Good healthOphthalmologyTransthyretinmedicine.anatomical_structure030221 ophthalmology & optometrybiology.proteinLattice corneal dystrophyFemalesense organsbusiness030217 neurology & neurosurgeryFollow-Up StudiesSeminars in ophthalmology
researchProduct

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A S…

2020

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05…

0301 basic medicinemyalgiaMaleAbdominal painSettore MED/16 - REUMATOLOGIATNFRSF1AGene mutationGastroenterology0302 clinical medicinePathologyMedicineRB1-214PericarditisChildPrognosisPenetranceInflamacióFamilial Mediterranean FeverAIDA networkEstudi de casosReceptors Tumor Necrosis Factor Type IChild PreschoolAutoinflammationFemalemedicine.symptomResearch ArticleAdultmedicine.medical_specialtyArticle SubjectAdolescentGenotypetumor necrosis factorImmunologyContext (language use)Asymptomatic03 medical and health sciencesYoung AdultInternal medicineAnimalsHumansRetrospective Studies030203 arthritis & rheumatologyInflammationbusiness.industrytumor necrosis factor TRAPS AIDA networkTumor Necrosis Factor-alphaInfantTRAPSCell BiologyMyalgiaBiological productmedicine.disease030104 developmental biologyMutationCase studiesbusinessKidney diseaseMediators of Inflammation
researchProduct

Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated perio…

2015

Abstract TNFR-associated periodic syndrome is an autoinflammatory disorder caused by autosomal-dominant mutations in TNFRSF1A, the gene encoding for TNFR superfamily 1A. The lack of knowledge in the field of TNFR-associated periodic syndrome biology is clear, particularly in the context of control of immune self-tolerance. We investigated how TNF-α/TNFR superfamily 1A signaling can affect T cell biology, focusing on conventional CD4+CD25− and regulatory CD4+CD25+ T cell functions in patients with TNFR-associated periodic syndrome carrying either high or low penetrance TNFRSF1A mutations. Specifically, we observed that in high penetrance TNFR-associated periodic syndrome, at the molecular le…

Male0301 basic medicinePenetranceAutoimmunitymedicine.disease_causeT-Lymphocytes RegulatoryImmune toleranceSettore MED/38 - Pediatria Generale E SpecialisticaTRAPS; Tconvs; Tregs; autoimmunity; immune toleranceImmunology and AllergyIL-2 receptorChildGeneticsMutationTconvTOR Serine-Threonine Kinaseshemic and immune systemsMiddle AgedAcquired immune systemPenetranceTregSTAT Transcription Factorsmedicine.anatomical_structureReceptors Tumor Necrosis Factor Type ICytokinesFemalebiological phenomena cell phenomena and immunitySignal TransductionAdultAdolescentFeverT cellAutoimmunity; Immune tolerance; Tconvs; Tregs; TRAPS; Cell Biology; ImmunologyImmunologyReceptors Antigen T-CellContext (language use)Tregs[object Object]BiologyImmunophenotypingYoung Adult03 medical and health sciencesImmune systemmedicineHumansAgedCell ProliferationDemographyTconvsImmune toleranceHereditary Autoinflammatory DiseasesTRAPSCell Biologybiological factors030104 developmental biologyMutationCancer research
researchProduct

Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome-Therapeutic Outcome and Predictors of Response:…

2021

Objective: To describe the role of biotechnological therapies in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and to identify any predictor of complete response.Methods: Clinical, laboratory, and therapeutic data from 44 Caucasian TRAPS patients treated with biologic agents were retrospectively collected in 16 Italian tertiary Centers.Results: A total of 55 biological courses with anakinra (n = 26), canakinumab (n = 16), anti-TNF-α agents (n = 10), and tocilizumab (n = 3) were analyzed. A complete response was observed in 41 (74.5%) cases, a partial response in 9 (16.4%) cases and a treatment failure in 5 (9.1%) cases. The frequency of TRAPS exacerbation…

0301 basic medicinemedicine.medical_specialtyMedicine (General)Settore MED/16 - REUMATOLOGIAmedicine.drug_classtumor necrosis factor inhibitorsbiologic therapy interleukin-1 inhibitors personalized medicine tocilizumab tumor necrosis factor inhibitors tumor necrosis factor receptor-associated periodic syndromeinterleukin-1 inhibitorsGastroenterology03 medical and health scienceschemistry.chemical_compoundtocilizumab0302 clinical medicineTocilizumabR5-920Internal medicinemedicinebiologic therapyAdverse effecttumor necrosis factor receptor-associated periodic syndromeOriginal Research030203 arthritis & rheumatologyAnakinraProteinuriabiologymedicine.diagnostic_testbusiness.industryC-reactive proteinGeneral MedicineTumor necrosis factor receptor associated periodic syndromepersonalized medicineCanakinumab030104 developmental biologychemistryErythrocyte sedimentation ratebiology.proteinAutoinflammationCorticosteroidMedicinemedicine.symptombusinessmedicine.drugbiologic therapy; interleukin-1 inhibitors; personalized medicine; tocilizumab; tumor necrosis factor inhibitors; tumor necrosis factor receptor-associated periodic syndrome
researchProduct