Search results for "REGISTRY"

showing 10 items of 273 documents

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collabora…

2018

PubMed: 30270054

International CooperationMÉTODOS EPIDEMIOLÓGICOS030204 cardiovascular system & hematologyNationwide surveyGlobal HealthHealth Services AccessibilityDoenças Cardio e Cérebro-vascularesMOLECULAR-GENETICS0302 clinical medicineRisk FactorsPrevalenceCARDIOVASCULAR RISK-FACTORS030212 general & internal medicineCooperative BehaviorDEFECTIVE APOLIPOPROTEIN B-100GENERAL-POPULATIONeducation.field_of_studymedicine.diagnostic_testAnticholesteremic AgentsFamilial hypercholesterolaemia; FHSC; Primary dyslipidaemia; Anticholesteremic Agents; Biomarkers; Cholesterol LDL; Cooperative Behavior; Genetic Predisposition to Disease; Health Care Surveys; Health Services Accessibility; Healthcare Disparities; Humans; Hyperlipoproteinemia Type II; Phenotype; Predictive Value of Tests; Prevalence; Risk Factors; Treatment Outcome; Blood Component Removal; Global Health; International CooperationEAS Familial Hypercholesterolaemia Studies Collaboration3. Good healthPREVALENCECholesterolPhenotypeTreatment OutcomeBlood Component RemovalCORONARY-ARTERY-DISEASENATIONWIDE SURVEYCardiology and Cardiovascular MedicineFamilial hypercholesterolaemiamedicine.medical_specialtyCardiovascular risk factorsPopulationLDL-RECEPTOR1102 Cardiovascular Medicine And HaematologyLDLHyperlipoproteinemia Type II03 medical and health sciencesPredictive Value of TestsmedicineHumans:Medicine [Science]Genetic Predisposition to DiseasePrimary dyslipidaemiaHealthcare Disparitiesfhsc; familial hypercholesterolaemia; primary dyslipidaemiaeducationGenetic testingGovernmentPublic healthEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) InvestigatorsSAFEHEART REGISTRY1103 Clinical SciencesFHSCCholesterol LDLCardiovascular System & HematologyFamily medicineHealth Care Surveys3121 General medicine internal medicine and other clinical medicineCardiovascular System & CardiologyBusinessFOLLOW-UPBiomarkers
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Preliminary data revealing efficacy of Streptococcus salivarius K12 (SSK12) in Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adeniti…

2023

ObjectiveTo evaluate the potential role of Streptococcus salivarius K12 (SSK12) in controlling febrile flares in patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) syndrome. Further aims were to assess the impact of SSK12 on (i) flare duration, (ii) variation in the degree of the highest body temperature during flares, (iii) steroid-sparing effect, and (iv) change of PFAPA accompanying symptoms before and after SSK12 introduction.Patients and methodsThe medical charts from 85 pediatric patients with PFAPA syndrome (49 males and 36 females) enrolled in the AIDA registry and treated with SSK12 for a median period of 6.00 ± 7.00 months in the period b…

International Registry PFAPA syndrome Streptococcus salivarius K12 autoinflammatory disease probiotic prophylaxis tonsillitisSettore MED/38 - Pediatria Generale E SpecialisticaAutoinflammationGeneral MedicineHuman medicinePFAPA syndromeFrontiers in Medicine
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Diagnosis and therapeutic management of primary headache in an emergency setting

2013

Introduction and aim: Much headachers are under or mis-diagnoses and data regarding the proportion of patients attending an emergency department (ED) because of headache are still few. We conducted a retrospective observational study in an ED with the following aims: (a) estimate the proportion of headache attending to an ED (b) to estimate and describe the therapeutic management of primary headache and (c) to assessment the exam most frequently requested. Materials and methods: We collected data regarding patients diagnosed with headache consecutively attending the ED of the University of Palermo between September 2011 and March 2012. The study was approved by the ethics committee. Results: Between the semester evaluated 25110 subjects were admitted to ED headache suffers were equal to 1.6 %. Of these 263 (63.1 %) were woman and 154 (36.9 %). Mean age was 44.2 (DS ± 18.4) years (p = 0.068).According to ED registry headache admission was as follow assigned: 76.5 % with a diagnosis of headache 22.8 % with a secondary headache 0.7 % with Trigeminal Autonomic Cephalgias (TACs). Among those with a primary headache about 36 % of patient did not received a pharmacological treatment. Monotherapy was prescribed less frequently than combination therapy (19.1 vs 44.5 %).In monotherapy the most frequent medication were NSAIDs (28.3 %) benzodiazepines (26.7 %) and dopamine antagonists (11.7 %). Among those with a primary headache a CT scan was performed in the 124 subjects and 111 (34.8 %) had a neurologist consultation. Discussion: Our data are in line with the one previously reported in literature. The most frequently medication in the Italian ED were NSAIDs benzodiazepines dopamine antagonists and steroids. Neverless our data unlikely can be compared to other study give a snapshot. We believe that much more can be done to improve treatment of primary headache in ED.Settore MED/26 - Neurologia
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Long term prognosis of patients with cardiac syndrome X: data from the Italian Registry of Syndrome X (RISX)

2009

Long term prognosis of patients with cardiac syndrome X: data from the Italian Registry of Syndrome X (RISX)

Long term prognosis of patients with cardiac syndrome X: data from the Italian Registry of Syndrome X (RISX)
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The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

2022

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …

Male*Genetic analysis*Autoinflammatory diseasesPyrinFamilial Mediterranean fever*Classification criteriaCohort StudiesAnesthesiology and Pain MedicineRheumatologySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAMutation*Familial mediterranean feverHumansFemale*RegistryRegistriesAutoinflammatory diseases Classification criteria Familial mediterranean fever Genetic analysis Recurrent fevers Registry Cohort Studies Colchicine Female Humans Male Mutation Pyrin Registries Familial Mediterranean FeverColchicine*Recurrent fevers
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Performance of Finnish biobanks in nationwide pulmonary carcinoid tumour research

2019

Finnish hospital-integrated biobanks administer millions of formalin-fixed paraffin-embedded tissue samples collected within the clinical diagnostics. According to the Finnish Biobank Act, these samples can be coupled with patients’ clinical follow-up data and the data retrieved from national health registries. We collected a nationwide pulmonary carcinoid tumour series from Finnish biobanks to study prognostic factors as well as to explore how the number of tumours found in the Finnish biobanks corresponds to the number of tumours registered by the Finnish Cancer Registry (FCR). Finnish biobanks identified 88% of the tumours registered by the FCR and were able to deliver 63%. The main reas…

Male0301 basic medicineLung NeoplasmsProliferation indexbiopankitDiseaseNeuroendocrine tumorskeuhkosyöpäPulmonary carcinoidTumour tissue0302 clinical medicineRARERegistriesINDEXFinlandBiological Specimen BanksOUTCOMESrare cancerSURGICAL RESECTIONGeneral MedicineMiddle AgedPrognosisBiobank3. Good healthbiobank030220 oncology & carcinogenesisMediastinal lymph nodeSURVIVALOriginal ArticleFemaleBURDENpulmonary carcinoidAdultmedicine.medical_specialty3122 CancersCarcinoid TumorPathology and Forensic Medicine03 medical and health sciencesInternal medicinemedicineQUALITYHumansharvinaiset tauditMolecular BiologyBiobankbusiness.industryRare cancerennusteetCell Biologymedicine.diseaseCarcinoma NeuroendocrineCancer registryPulmonary carcinoid tumour030104 developmental biologyEXPERIENCEprognosis3111 BiomedicinebusinessNEUROENDOCRINE TUMORSVirchows Archiv
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Burden and centralised treatment in Europe of rare tumours: results of RARECAREnet—a population-based study

2017

Background: Rare cancers pose challenges for diagnosis, treatments, and clinical decision making. Information about rare cancers is scant. The RARECARE project defined rare cancers as those with an annual incidence of less than six per 100 000 people in European Union (EU). We updated the estimates of the burden of rare cancers in Europe, their time trends in incidence and survival, and provide information about centralisation of treatments in seven European countries. Methods: We analysed data from 94 cancer registries for more than 2 million rare cancer diagnoses, to estimate European incidence and survival in 2000–07 and the corresponding time trends during 1995–2007. Incidence was calcu…

Male0301 basic medicinePathologypopulation-based registriesCancer Care Facilities; Delivery of Health Care; Europe; Female; Hospitalization; Humans; Incidence; Male; Neoplasms; Rare Diseases; Registries; Survival Rate; Oncology0302 clinical medicineNeoplasmsMedicineRegistriesmedia_commonTumors -- Treatment -- Europeeducation.field_of_studyRelative survivalIncidenceIncidence (epidemiology)RARECARE projectEuropeHospitalizationSurvival RateOncology030220 oncology & carcinogenesis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalemedicine.medical_specialtyHealth surveysPopulationSocio-culturaleCancer Care Facilities03 medical and health sciencesRare DiseasesSDG 3 - Good Health and Well-beingHumansmedia_common.cataloged_instanceCancer -- MortalityRisk factorEuropean unioneducationSurvival rateOncology cancer burden incidence rare cancerpopulation-based registriesrare cancers cancer registry RARECAREbusiness.industryRare cancerCancer -- Patients -- Long-term careCancer registry030104 developmental biologycancer burdenbusinessDelivery of Health CareDemographyRare disease
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Pediatric bone tumors in Germany from 1987 to 2011: incidence rates, time trends and survival

2016

AbstractBackground: Malignant bone tumors are a rare group of childhood cancer.Materials and methods: This study describes incidence rates, survival probabilities, and time trends for 1831 children below 15 years of age with a bone tumor registered at the population-based German Childhood Cancer Registry between 1987 and 2011.Results: Overall age-standardized annual incidence rate (ASR) was 5.5 per million. Osteosarcomas (ASR 2.8) and Ewing tumors (ASR 2.6) were the most frequent diagnostic groups. The incidence of bone tumors overall tended to increase slightly over time by 0.7% each year on average. Thirty-nine of the bone tumor cases reported were subsequent primaries and not included in…

Male0301 basic medicinePediatricsmedicine.medical_specialtyTime FactorsAdolescentmedicine.medical_treatmentPopulationBone NeoplasmsSarcoma EwingAnnual incidence03 medical and health sciencesRare DiseasesSex Factors0302 clinical medicinemedicineHumansRadiology Nuclear Medicine and imagingRegistriesChildeducationSurvival analysisOsteosarcomaChemotherapyChildhood Cancer Registryeducation.field_of_studybusiness.industryTime trendsIncidenceIncidence (epidemiology)Age FactorsInfant NewbornInfantHematologyGeneral MedicineSurvival Analysis030104 developmental biologyOncologyChild Preschool030220 oncology & carcinogenesisFemalebusinessActa Oncologica
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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

2019

IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…

MaleANOMALIESCandidate geneHeredityEtiologyMolecular biologylnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Pathology and Laboratory MedicineSequencing techniquesEXCLUSIONMedicine and Health SciencesExomeDNA sequencingExomeOligonucleotide Array Sequence AnalysisGeneticsSanger sequencingRISKeducation.field_of_studyMultidisciplinaryQRCongenital AnomaliesAnorectal MalformationsGenetic MappingReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]OBESITYsymbolsEngineering and TechnologyMedicineFemaleRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Research ArticleAdultQuality ControlCANDIDATE GENESciencePopulationVariant GenotypesBiologysymbols.namesakeSigns and SymptomsDiagnostic MedicineIndustrial EngineeringBIRTH-DEFECTSGeneticsCongenital DisordersHumansAlleleeducationGeneAllelesFistulasNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Dideoxy DNA sequencingGenetic VariationBiology and Life SciencesHuman GeneticsReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Research and analysis methodsMolecular biology techniquesBonferroni correctionFGF10Genetic LociREGISTRYEtiologyRenal disorders Radboud Institute for Health Sciences [Radboudumc 11]PLoS One
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Childhood leukaemia risk and residential proximity to busy roads

2018

BACKGROUND: Current evidence suggests that childhood leukaemia can be associated with residential traffic exposure; nevertheless, more results are needed to support this conclusion. OBJECTIVES: To ascertain the possible effects of residential proximity to road traffic on childhood leukaemia, taking into account traffic density, road proximity and the type of leukaemia (acute lymphoid leukaemia or acute myeloid leukaemia). METHODS: We conducted a population-based case-control study of childhood leukaemia in Spain, covering the period 1990-2011. It included 1061 incidence cases gathered from the Spanish National Childhood Cancer Registry and those Autonomous Regions with 100% coverage, and 64…

MaleAdolescentPopulationLogistic regressionRisk AssessmentOdds03 medical and health sciences0302 clinical medicineRisk Factorshemic and lymphatic diseasesResidential proximityOdds RatioMedicineHumans030212 general & internal medicineRegistriesRisk factoreducationChildlcsh:Environmental sciencesGeneral Environmental Sciencelcsh:GE1-350Childhood Cancer Registryeducation.field_of_studyLeukemiabusiness.industryIncidence (epidemiology)IncidenceChildhood leukaemiaInfant NewbornInfantCase-control studyOdds ratioConfidence intervalMotor VehiclesLogistic ModelsSpain030220 oncology & carcinogenesisCase-Control StudiesChild PreschoolHousingFemaleTraffic densitybusinessDemography
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