Search results for "Endocrine Syndrome"

showing 5 items of 5 documents

Everolimus as first line therapy for pancreatic neuroendocrine tumours: current knowledge and future perspectives

2017

urpose Everolimus has been shown to be effective for advanced pancreatic neuroendocrine tumours (pNETs), but its positioning in the therapeutic algorithm for pNETs is matter of debate. Methods With the aim to shed light on this point, we performed an up-to-date critical review taking into account the results of both retrospective and prospective published studies, and the recommendations of international guidelines. In addition, we performed an extensive search on the Clinical Trial Registries databases worldwide, to gather information on the ongoing clinical trials related to this specific topic. Results We identified eight retrospective published studies, two prospective published studies…

0301 basic medicinemTOR inhibitorsCancer Researchmedicine.medical_specialtyPathologymTOR inhibitorEverolimus; mTOR inhibitors; Neuroendocrine tumours; Therapy; Antineoplastic Agents; Everolimus; Humans; Neuroendocrine Tumors; Pancreatic Neoplasms; Oncology; Cancer ResearchTherapeutic algorithmEverolimus; mTOR inhibitors; neuroendocrine tumours; therapy; antineoplastic agents; everolimus; humans; neuroendocrine tumours; pancreatic neoplasms; oncology; cancer researchEndocrine SyndromeNeuroendocrine tumorsAntineoplastic Agent03 medical and health sciences0302 clinical medicineFirst line therapyNeuroendocrine tumourantineoplastic agentsmedicinehumansIntensive care medicinetherapyEverolimusbusiness.industryPancreatic Neoplasmpancreatic neoplasmsGeneral Medicineeverolimusmedicine.diseaseDiscovery and development of mTOR inhibitorsClinical trialEverolimuNeuroendocrine Tumors030104 developmental biologyOncology030220 oncology & carcinogenesisneuroendocrine tumoursNeuroendocrine TumorbusinessEverolimus; mTOR inhibitors; Neuroendocrine tumours; Therapy; Antineoplastic Agents; Everolimus; Humans; Neuroendocrine Tumors; Pancreatic NeoplasmsHumanmedicine.drugJournal of Cancer Research and Clinical Oncology
researchProduct

Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4

2017

OBJECTIVE: The frequency of autoimmunity against the parathyroid glands in patients with polyglandular autoimmunity that is not due to autoimmune polyendocrine syndrome type 1 (APS1) is unclear. To investigate this, the current study aimed to determine the prevalence of autoantibodies against parathyroid autoantigens the calcium-sensing receptor (CaSR) and NACHT leucine-rich-repeat protein 5 (NALP5) in a large group of patients with non-APS1 polyendocrine autoimmunity. Possible occult APS1 was investigated by cytokine autoantibody measurement and AIRE gene analysis. DESIGN, SUBJECTS, AND MEASUREMENTS: Subjects were 178 patients with APS2, 3 or 4, and 80 healthy blood donors. Autoantibodies …

AdultMale0301 basic medicinemedicine.medical_specialtyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentAutoimmunity030209 endocrinology & metabolismmedicine.disease_causeAutoantigensAutoimmunityMitochondrial ProteinsParathyroid Glands03 medical and health sciences0302 clinical medicineEndocrinologyInternal medicinemedicineHumansPolyendocrinopathies AutoimmuneReceptorAgedAutoantibodiesSubclinical infectionbusiness.industryAutoantibodyNuclear ProteinsMiddle Agedmedicine.diseaseAnti-thyroid autoantibodies030104 developmental biologyEndocrinologyCytokineAutoimmune polyendocrine syndrome type 1Case-Control StudiesImmunologyCytokinesFemaleCalcium-sensing receptorbusinessReceptors Calcium-SensingClinical Endocrinology
researchProduct

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.

2011

Background: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). Aim: We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. Subjects and methods: In 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed. Results: Two patients carried the mutati…

AdultMaleChronic mucocutaneous candidiasisMutationAutoimmune polyendocrine syndrome type 1HumansFemaleAddison's diseasePolyendocrinopathies AutoimmuneSicilyChronic hypoparathyroidismAIRE gene mutation Addison’s disease APECED autoimmune polyendocrine syndrome type 1 chronic mucocutaneous candidiasis chronic hypoparathyroidismAPECEDTranscription Factors
researchProduct

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

2021

Abstract Background Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison’s disease (AD). Methods Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 ± 15.1 years. AIRE mutations were determined. Results The prevalence of APS-1 was 2.6 cases/million (range 0.5–17 in different regions). At the onset 93% of patients presented with one or more component…

MaleTranscription FactorEndocrinology Diabetes and MetabolismAutoimmune hepatitisGene mutationGastroenterologyChronic mucocutaneous candidiasisEndocrinologyAddison DiseaseAutoimmune Polyglandular Syndrome type 1 (APS-1)PrevalenceMedicineChronic mucocutaneous candidiasisPolyendocrinopathies AutoimmuneCandidiasis Chronic MucocutaneouAddison’s disease AIRE gene mutations Autoimmune Polyglandular Syndrome type 1 (APS-1) Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED) Chronic hypoparathyroidism Chronic mucocutaneous candidiasis Interferon autoantibodiesCandidiasis Chronic MucocutaneousAIRE gene mutations; Addison’s disease; autoimmune polyglandular syndrome type 1 (APS-1); autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED); chronic hypoparathyroidism; chronic mucocutaneous candidiasis; interferon autoantibodiesAutoimmune regulatorAutoantibodieItalyInterferon autoantibodieAddison's diseaseInterferon Type IOriginal ArticleFemaleChronic hypoparathyroidismHumanAdultmedicine.medical_specialtyAutoimmune GastritisHypoparathyroidismAddison’s diseaseAIRE gene mutationsInternal medicineInterferon autoantibodiesHumansMortalityAutoantibodiesAddison’s disease; AIRE gene mutations; Autoimmune Polyglandular Syndrome type 1 (APS-1); Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED); Chronic hypoparathyroidism; Chronic mucocutaneous candidiasis; Interferon autoantibodiesbusiness.industryChronic mucocutaneous candidiasiAIRE gene mutationAutoantibodymedicine.diseaseAutoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED)Interferon autoantibodies.Autoimmune polyendocrine syndrome type 1MutationbusinessTranscription Factors
researchProduct

Compromised central tolerance of ICA69 induces multiple organ autoimmunity

2014

For reasons not fully understood, patients with an organ-specific autoimmune disease have increased risks of developing autoimmune responses against other organs/tissues. We identified ICA69, a known β-cell autoantigen in Type 1 diabetes, as a potential common target in multi-organ autoimmunity. NOD mice immunized with ICA69 polypeptides exhibited exacerbated inflammation not only in the islets, but also in the salivary glands. To further investigate ICA69 autoimmunity, two genetically modified mouse lines were generated to modulate thymic ICA69 expression: the heterozygous ICA69(del/wt) line and the thymic medullary epithelial cell-specific deletion Aire-ΔICA69 line. Suboptimal central neg…

Primary Sjogren's syndromeGenetically modified mouseImmunologyThyroid GlandAutoimmune diabeteMice TransgenicThymus GlandBiologymedicine.disease_causeAutoantigensArticleSalivary GlandsSettore MED/13 - EndocrinologiaAutoimmune DiseasesAutoimmunityImmune toleranceAutoimmune thyroiditisIslets of LangerhansMiceICA69Mice Inbred NODImmune TolerancemedicineAnimalsImmunology and AllergyThymuAutoimmune thyroiditiNOD miceInflammationAutoimmune diseaseStomachmedicine.diseaseGene Expression RegulationAutoimmune polyendocrine syndromeImmunologyAutoimmune polyendocrine syndromeCentral toleranceJournal of Autoimmunity
researchProduct