Search results for "Syndrome type"

showing 6 items of 16 documents

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
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Validation of proposed diagnostic criteria (the "Budapest Criteria") for Complex Regional Pain Syndrome

2010

Current IASP diagnostic criteria for CRPS have low specificity, potentially leading to overdiagnosis. This validation study compared current IASP diagnostic criteria for CRPS to proposed new diagnostic criteria (the "Budapest Criteria") regarding diagnostic accuracy. Structured evaluations of CRPS-related signs and symptoms were conducted in 113 CRPS-I and 47 non-CRPS neuropathic pain patients. Discriminating between diagnostic groups based on presence of signs or symptoms meeting IASP criteria showed high diagnostic sensitivity (1.00), but poor specificity (0.41), replicating prior work. In comparison, the Budapest clinical criteria retained the exceptional sensitivity of the IASP criteria…

MaleValidation studymedicine.medical_specialtyDatabases FactualSigns and symptomsDiagnostic accuracySensitivity and SpecificityArticleDiagnosis DifferentialmedicineRegional pain syndromeHumansOverdiagnosisPain Measurementbusiness.industryReproducibility of ResultsComplex Regional Pain Syndrome Reflex sympathetic dystrophy CRPS RSD Diagnosis Validation reflex sympathetic dystrophy syndrome type-i signs crpsmedicine.diseaseSurgeryAnesthesiology and Pain MedicineComplex regional pain syndromeNeurologyPhysical therapyFemaleNeurology (clinical)businessComplex Regional Pain Syndromes
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Painful scar neuropathy: principles of diagnosis and treatment

2015

Nerve-tissue interactions are critical. Peripheral nerve injuries may involve intraneural and extraneural scar formation and affect nerve gliding planes, sometimes leading to complex clinical presentations. All of these pathological entities involve pain as the main clinical symptom and can be subsumed under the term "painful scar neuropathy". The authors review the literature on treatment approaches to peripheral nerve scar neuropathy and the outcomes of neurolysis-associated procedures and propose a simple classification and a therapeutic approach to scar neuropathy. The search retrieved twenty-one papers, twenty of which reported pain reduction or resolution with various techniques. Ther…

Painful scarLesion typemedicine.medical_specialtybusiness.industrySettore MED/19 - Chirurgia PlasticaLogical approachExtraneuralComplex regional pain syndrome type II painful neuropathy painful scar neuropathy scar neuritis traction neuropathySurgeryTherapeutic approachPeripheral nerveNeuropathic painMedicinebusinessPathological
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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

2005

Contains fulltext : 48386.pdf (Publisher’s version ) (Closed access) Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A). Although the different USH types exhibit almost the same phenotype in human, the identified USH genes encode for proteins which belong to very different protein classes and families. We and others recently reported that the scaffold protein harmonin (USH1C-gene product) integrates all identified USH1 molecules in a USH1-protein network. Here, we investigated the relationship between the USH2 molecules a…

Scaffold proteinGenetics and epigenetic pathways of disease [NCMLS 6]Usher syndromeStereocilia (inner ear)Cell Cycle ProteinsBiologyInteractomeReceptors G-Protein-CoupledMiceotorhinolaryngologic diseasesGeneticsmedicineAnimalsNeurosensory disorders [UMCN 3.3]Photoreceptor CellsRats WistarMolecular BiologyGeneGenetics (clinical)Renal disorder [IGMD 9]GeneticsExtracellular Matrix ProteinsStereociliumBinding SitesHair Cells Auditory InnerSodium-Bicarbonate SymportersUsher Syndrome Type 1General Medicinemedicine.diseasePhenotypeRatsMice Inbred C57BLCytoskeletal ProteinsCarrier ProteinsUsher Syndromes
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Langer-Giedion syndrome with interstitial 8q-deletion.

1982

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

congenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyChromosome DisordersNoseBone and BonesLanger–Giedion syndromeFingersChromosome analysisInternal medicineIntellectual Disabilityotorhinolaryngologic diseasesMedicineHumansAbnormalities MultipleChildGenetics (clinical)Chromosome AberrationsChromosomes Human 6-12 and XSyndrome typebusiness.industryAnatomySyndromemedicine.diseaseSpineChromosome BandingEndocrinologyKaryotypingFemaleChromosome DeletionbusinessAmerican journal of medical genetics
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Cardiorenal syndrome type 4: From chronic kidney disease to cardiovascular impairment

2016

Cardiorenal syndrome type 4 (CRS type 4), or chronic renocardiac syndrome, has been defined as "chronic abnormalities in renal function leading to cardiac disease" and recognizes the extreme burden of cardiovascular disease (CVD) risk in patients with chronic kidney disease (CKD). CKD is common and increasingly recognized as a risk factor for CVD. Even though the treatment for CVD has dramatically improved over the past decades, it still takes responsibility for up to 50% of deaths in CKD patients. For this reason, patients with CKD should be thoroughly evaluated for cardiovascular risk factors that require careful management, given the significant burden of CRS type 4 on the healthcare sys…

medicine.medical_specialty030232 urology & nephrologyRenal functionCardiorenal syndromeDisease030204 cardiovascular system & hematologyurologic and male genital diseasesLeft ventricular hypertrophyAtherosclerosis; Cardiorenal syndrome type 4; Cardiovascular risk; Chronic kidney disease; Hypertension; Left ventricular hypertrophy; Atherosclerosis; Cardio-Renal Syndrome; Disease Progression; Humans; Hypertension; Hypertrophy Left Ventricular; Renal Dialysis; Renal Insufficiency Chronic; Risk Factors; Internal Medicine03 medical and health sciences0302 clinical medicineRenal DialysisRisk FactorsInternal medicineChronic kidney diseaseCardiorenal syndrome type 4medicineInternal MedicineHumansIn patientRenal InsufficiencyRenal Insufficiency ChronicRisk factorChronicIntensive care medicineCardio-Renal Syndromebusiness.industryLeft ventricular hypertrophyHypertrophymedicine.diseaseAtherosclerosisCardiovascular riskAtherosclerosis; Cardiorenal syndrome type 4; Cardiovascular riskLeft VentricularRenocardiac SyndromeAtherosclerosiHypertensionCardiologyDisease ProgressionHypertrophy Left VentricularbusinessKidney disease
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