Search results for "Data"

showing 10 items of 12992 documents

Strategy for Long-Term Surveillance at the German Childhood Cancer Registry - an Update

2011

Background The objective of this paper is to provide information about the quality (e.g. completeness, response) of long-term surveillance in German paediatric oncology and haematology based on the structures implemented by the German Childhood Cancer Registry (GCCR). Methods The GCCR contacts parents or patients to collect and update information on a minimal set of follow-up health status data (e.g. late relapses, subsequent neoplasms, current address) and exchanges this information regularly with the appropriate clinical trials. Results Between 2006 and 2010, GCCR approached a total of about 20,000 patients (contact at the age of 16 years, inquiry concerning the health status) in the cont…

AdultMalePediatricsmedicine.medical_specialtyAdolescentDatabases FactualLymphomaCross-sectional studyHealth StatusMEDLINECentral Nervous System NeoplasmsCohort StudiesGermanYoung AdultCause of DeathGermanyNeoplasmsHumansMedicineRegistriesSurvivorsYoung adultChildClinical Trials as TopicChildhood Cancer RegistryLeukemiabusiness.industryMiddle AgedLong-Term CareSurvival Analysislanguage.human_languageClinical trialLong-term careCross-Sectional StudiesChild PreschoolPopulation SurveillanceFamily medicinePediatrics Perinatology and Child HealthQuality of LifelanguageFemalebusinessCohort studyKlinische Pädiatrie
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Mean temperature and humidity variations, along with patient age, predict the number of visits for renal colic in a large urban Emergency Department:…

2012

Background: A marked geographic variability has been reported in stone disease, partially attributed to the Mean Annual Temperature (MAT), as well as to the seasonal fluctuations of climatic conditions. Accordingly, peaks in Emergency Department (ED) visits for renal colic are commonplace during the summer. Materials and methods: The aim of this study was to assess the influence of day-by-day climate changes on the number of visits as a result of renal colic in the ED (City of Parma, northern Italy, temperate continental climate). A total of 10,802 colic episodes were retrieved from the database during a period of 3286 days (January 2002 to December 2010). Results: The analysis of the data …

AdultMalePediatricsmedicine.medical_specialtyDatabases FactualEpidemiologyClimateRisk AssessmentSeverity of Illness IndexArticleOlder populationCohort StudiesYoung AdultAgeHospitals UrbanPatient agePredictive Value of TestsEpidemiologymedicineHumansRenal colicMean radiant temperatureRenal ColicStone diseaseAgedRetrospective StudiesAged 80 and overAnalysis of Variancebusiness.industrylcsh:Public aspects of medicineIncidenceTemperatureAge Factorslcsh:RA1-1270HumidityEmergency departmentMiddle AgedNorthern italyItalyLinear ModelsFemaleSeasonsmedicine.symptombusinessEmergency Service HospitalJournal of Epidemiology and Global Health
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Clinical features, disease progression and use of healthcare resources in a large sample of 866 patients from 24 headache centers: A real-life perspe…

2021

Objective: To develop a dedicated Italian chronic migraine (CM) database (IRON project) to overcome disease misconceptions, improve clinical administration, reduce patients' burden, and rationalize economic resource allotment.Background: Proper CM management requires a comprehensive appraisal of its full clinical, social, and economic complexity.Methods: In this cross-sectional study, CM patients were screened in 24 certified headache centers with face-to-face interviews. Information on sociodemographic factors, medical history, characteristics of CM, and of prior episodic migraine (EM), and healthcare resource use was gathered using a semistructured web-based questionnaire.Results: A total…

AdultMalePediatricsmedicine.medical_specialtyDatabases FactualMigraine DisordersDiseaseregistryState Medicine03 medical and health sciences0302 clinical medicineChronic MigraineSurveys and QuestionnairesHealth caremedicineHumansMass ScreeningMedical history030212 general & internal medicinedatabaseEconomic complexitybusiness.industryDisease progressionhealthcareMiddle AgedPatient Acceptance of Health CareLarge sampleCross-Sectional StudiesNeurologyItalySocioeconomic Factorseconomic burdenDisease ProgressionResource usePain ClinicsFemaleSettore MED/26 - NeurologiaNeurology (clinical)chronic migrainebusiness030217 neurology & neurosurgery
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Identification of a peptide mimicking the binding pattern of an antiphospholipid antibody

2006

Our objective was to characterize monoclonal antiphospholipid antibodies (APL) and identify disease-associated antigens in patients with the antiphospholipid syndrome (APS). We used the monoclonal antibody HL-5B, derived from a patient with APS suffering from multiple ischemic events, to screen a 12-mer peptide phage display library (New England Biolabs, London, England). The identified phage clones were sequenced and the derived consensus peptide was synthesized. The peptide was used to perform competitive inhibition experiments for their ability to inhibit the binding of the monoclonal antibody and of serum antibodies to cardiolipin and phosphatidylserine. Additionally patients and contro…

AdultMalePhage displaymedicine.drug_classMolecular Sequence DataImmunologyEnzyme-Linked Immunosorbent AssayMonoclonal antibodyEpitopeAntigenAntibody SpecificityPeptide LibraryAntiphospholipid syndromemedicineHumansImmunology and AllergyAmino Acid SequencePeptide libraryPeptide sequenceAgedbiologyMolecular MimicryAntibodies MonoclonalHematologyMiddle AgedAntiphospholipid Syndromemedicine.diseaseVirologyMolecular biologyAntibodies Antiphospholipidbiology.proteinFemaleAntibodyPeptidesProtein BindingImmunobiology
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Perceptual Correlate of Nociceptive Long-Term Potentiation (LTP) in Humans Shares the Time Course of Early-LTP

2006

As in neocortex and hippocampus, neurons in the dorsal horn of the spinal cord develop long-term potentiation of synaptic efficacy (LTP) on high-frequency stimulation (HFS) of their afferent input, although how long LTP lasts in this nociceptive relay nucleus has not yet been addressed. Here we studied neurogenic hyperalgesia, a perceptual correlate of nociceptive LTP, in 13 healthy subjects, after HFS (5 × 1 s at 100 Hz) of superficial cutaneous afferents. HFS led to a mean upward shift of the stimulus–response function for pinprick-evoked pain (punctate mechanical hyperalgesia) in all subjects by a factor of 2.5 ( P < 0.001) that lasted undiminished for the initial 1-h observation per…

AdultMalePhysiologyLong-Term PotentiationPainHippocampusStimulationPhysical StimulationConditioning PsychologicalmedicineHumansNeurons AfferentPain MeasurementNeocortexGeneral NeuroscienceNociceptorsLong-term potentiationSpinal cordElectric StimulationNociceptionmedicine.anatomical_structureHyperalgesiaData Interpretation StatisticalTime courseHyperalgesiaVisual PerceptionFemalemedicine.symptomPsychologyNeuroscienceJournal of Neurophysiology
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Detection of HIV type 1 non-B subtypes in Sicily, Italy.

2004

To evaluate the presence of HIV-1 non-B subtypes in Sicily, we sequenced and genotyped HIV-1 PR and RT regions of the pol gene using plasma from 169 HIV-1-infected adult patients. All samples were obtained from a study of antiretroviral-associated resistance mutations resulting in virological failure during highly active antiretroviral therapy (HAART). Eight (4.7%) patients had the non-B HIV-1 subtype including some circulating recombinant forms (CRFs). All of these individuals acquired the infection by heterosexual transmission. The detection of HIV-1 non-B strains was significantly associated with younger age of HIV-1 acquisition. Our findings indicate, for the first time, the presence of…

AdultMalePol genesYounger ageImmunologyMolecular Sequence DataHuman immunodeficiency virus (HIV)HIV Infectionsmedicine.disease_causeVirusVirologyAntiretroviral Therapy Highly ActiveDrug Resistance ViralmedicineHumansIn patientTreatment FailurebiologyAdult patientsvirus diseasesMiddle Agedbiology.organism_classificationAntiretroviral therapyVirologyGenes polInfectious DiseasesItalyLentivirusImmunologyMutationHIV-1RNA ViralFemaleAIDS research and human retroviruses
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Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera

1994

Summary Erythropoietin (EPO) is a potent regulator of the viability, proliferation and differentiation of erythroid progenitor cells. Its effect is mediated by binding to the erythropoietin receptor (EPO-R), a member of a new cytokine receptor family. Alterations of the EPO/EPO-R system have recently been shown to be involved in the pathogenesis of familial erythrocytosis and polycythaemia vera (PV). In order to define whether genetic changes in the EPO-R gene and its ligand play a role in the development of PV, the structure and expression levels of the EPO-R and EPO genes were examined in samples from bone marrow and/or peripheral blood mononuclear cells of 24 patients with PV. As expecte…

AdultMalePolycythaemiaTranscription GeneticMolecular Sequence DataBiologyPolymerase Chain ReactionPeripheral blood mononuclear cellPolycythemia veraBone Marrowhemic and lymphatic diseasesReceptors ErythropoietinmedicineHumansRNA MessengerErythropoietinPolycythemia VeraPolymorphism Single-Stranded ConformationalAgedBase SequenceHematologyMiddle Agedmedicine.diseaseMolecular biologyReverse transcriptaseErythropoietin receptormedicine.anatomical_structureErythropoietinFemaleBone marrowOligonucleotide ProbesCytokine receptormedicine.drugBritish Journal of Haematology
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Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

2003

Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…

AdultMaleProbandHeterozygotemedicine.medical_specialtyApolipoprotein BDNA Mutational AnalysisMolecular Sequence DataGenes RecessiveARH geneCoronary AngiographyRisk AssessmentGenetic determinismHyperlipoproteinemia Type IIInternal medicinemedicineHumansPoint MutationRNA MessengerSicilyGeneAdaptor Proteins Signal TransducingHypolipidemic AgentsGeneticsBase SequencebiologySiblingsCoronary StenosisHeterozygote advantageAutosomal recessive hypercholesterolemiaPedigreeAdaptor Proteins Vesicular TransportTreatment OutcomeEndocrinologyAutosomal Recessive HypercholesterolemiaMutationLDL receptorMutation (genetic algorithm)biology.proteinFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineFollow-Up StudiesAtherosclerosis
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Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

2009

Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…

AdultMaleProbandmedicine.medical_specialtyCandidate geneEndocrinology Diabetes and MetabolismMolecular Sequence DataClinical BiochemistryNonsense mutationContext (language use)macromolecular substances030204 cardiovascular system & hematologyBiologyBiochemistry03 medical and health sciencesExon0302 clinical medicineEndocrinologyInternal medicinemedicineHumansTriglyceridesHypolipidemic Agents030304 developmental biologyHypertriglyceridemia0303 health sciencesLipoprotein lipaseBase Sequencedigestive oral and skin physiologyBiochemistry (medical)Hypertriglyceridemianutritional and metabolic diseasesGenetic VariationLMF1 gene; nonsense mutation; hypertriglyceridemiaLMF1 hypertriglyceridemiamedicine.disease3. Good healthLipoprotein LipaseEndocrinologyCodon NonsenseOriginal Articlelipids (amino acids peptides and proteins)Hepatic lipaseGemfibrozil
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Local administration of antisense phosphorothioate oligonucleotides to the p65 subunit of NF-kappa B abrogates established experimental colitis in mi…

1996

Chronic intestinal inflammation induced by 2,4,6,-trinitrobenzene sulfonic acid (TNBS) is characterized by a transmural granulomatous colitis that mimics some characteristics of human Crohn's disease. Here, we show that the transcription factor NF-kappa B p65 was strongly activated in TNBS-induced colitis and in colitis of interleukin-10-deficient mice. Local administration of p65 antisense phosphorothioate oligonucleotides abrogated clinical and histological signs of colitis and was more effective in treating TNBS-induced colitis than single or daily administration of glucocorticoids. The data provide direct evidence for the central importance of p65 in chronic intestinal inflammation and …

AdultMaleProtein subunitMolecular Sequence DataGeneral Biochemistry Genetics and Molecular BiologyMiceCrohn DiseaseAdrenal Cortex HormonesmedicineAnimalsHumansColitisTranscription factorCells CulturedAgedEnterocolitisPhosphorothioate OligonucleotidesBase Sequencebusiness.industryOligonucleotideEnterocolitisNF-kappa BTranscription Factor RelAGeneral MedicineDNAMiddle AgedOligonucleotides Antisensemedicine.diseaseNFKB1digestive system diseasesInterleukin-10Interleukin 10Disease Models AnimalTrinitrobenzenesulfonic AcidImmunologyCancer researchCytokinesFemalemedicine.symptombusinessNature medicine
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