Search results for "rare"

showing 10 items of 2778 documents

Survival of Adults with Acute Lymphoblastic Leukemia in Germany and the United States

2014

BackgroundAdulthood acute lymphoblastic leukemia (ALL) is a rare disease. In contrast to childhood ALL, survival for adults with ALL is poor. Recently, new protocols, including use of pediatric protocols in young adults, have improved survival in clinical trials. Here, we examine population level survival in Germany and the United States (US) to gain insight into the extent to which changes in clinical trials have translated into better survival on the population level.MethodsData were extracted from the Surveillance, Epidemiology, and End Results database in the US and 11 cancer registries in Germany. Patients age 15-69 diagnosed with ALL were included. Period analysis was used to estimate…

AdultMalePediatricsmedicine.medical_specialtyAdolescentNon-Clinical MedicineEpidemiologyScienceLymphoblastic LeukemiaBiostatisticsHematologic Cancers and Related DisordersGermanyLeukemiasEpidemiologyHumansMedicineStatistical MethodsYoung adultSurvival analysisAgedHealth Care PolicyMultidisciplinaryRelative survivalbusiness.industryStatisticsQRCancers and NeoplasmsCancerHematologyMiddle AgedPrecursor Cell Lymphoblastic Leukemia-LymphomaAcute Lymphoblastic Leukemiamedicine.diseaseSurvival AnalysisUnited StatesClinical trialOncologyUnited States ; age groups ; cancer treatment ; German people ; Germany ; cancer detection and diagnosis ; acute lymphoblastic leukemia ; leukemiasMedicineFemaleHealth StatisticsbusinessMathematicsResearch ArticleRare diseasePLoS ONE
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A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy

2014

Introduction Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,000 in the global population without racial or gender differences. In this study we present the results of a nationwide survey of C1-INH-HAE patients referring to 17 Italian centers, the Italian network for C1-INH-HAE, ITACA. Methods Italian patients diagnosed with C1-INH-HAE from 1973 to 2013 were included in the study. Diagnosis of C1-INH-HAE was based on family and/or personal history of recurrent angioedema without urticaria and on antigenic and/or functional C1-INH def…

AdultMalePediatricsmedicine.medical_specialtyAdolescentPopulationNationwide surveyC1-inhibitorYoung AdultmedicineHumansGenetics(clinical)C1 inhibitor; C4; Hereditary angioedema; Adolescent; Adult; Angioedemas Hereditary; Female; Humans; Italy; Male; Middle Aged; Young Adult; Medicine (all); Genetics (clinical); Pharmacology (medical)Pharmacology (medical)Young adulteducationGenetics (clinical)C4Medicine(all)Hereditary angioedemaeducation.field_of_studyC1 inhibitorAngioedemabiologybusiness.industryResearchMedicine (all)Angioedemas HereditaryAngioedemasGeneral MedicineMiddle Agedbacterial infections and mycosesmedicine.diseaseSettore MED/16 - ReumatologiaHereditaryItalyHereditary angioedemabiology.proteinFemalemedicine.symptomDifferential diagnosisbusinessRare diseaseOrphanet Journal of Rare Diseases
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Safety and Activity of the First-in-Class Sym004 Anti-EGFR Antibody Mixture in Patients with Refractory Colorectal Cancer

2015

Abstract Tumor growth in the context of EGFR inhibitor resistance may remain EGFR-dependent and is mediated by mechanisms including compensatory ligand upregulation and de novo gene alterations. Sym004 is a two-antibody mixture targeting nonoverlapping EGFR epitopes. In preclinical models, Sym004 causes significant EGFR internalization and degradation, which translates into superior growth inhibition in the presence of ligands. In this phase I trial, we observed grade 3 skin toxicity and hypomagnesemia as mechanism-based dose-limiting events during dose escalation. In dose-expansion cohorts of 9 and 12 mg/kg of Sym004 weekly, patients with metastatic colorectal cancer and acquired EGFR inhi…

AdultMaleProto-Oncogene Proteins B-rafClass I Phosphatidylinositol 3-KinasesColorectal cancerCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]Antineoplastic AgentsContext (language use)Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9]LigandsPhosphatidylinositol 3-Kinaseschemistry.chemical_compoundCell Line TumorHumansMedicinePanitumumabNeoplasm MetastasisAgedEGFR inhibitorsAged 80 and overDose-Response Relationship DrugCetuximabbusiness.industryGene AmplificationAntibodies MonoclonalCancerMiddle Agedmedicine.diseaseErbB ReceptorsClinical trialGenes rasTreatment OutcomeOncologychemistryMutationImmunologyCancer researchFemaleGrowth inhibitionColorectal Neoplasmsbusinessmedicine.drug
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Analysis of ecstasy in oral fluid by ion mobility spectrometry and infrared spectroscopy after liquid-liquid extraction.

2014

We developed and evaluated two different strategies for determining abuse drugs based on (i) the analysis of saliva by ion mobility spectrometry (IMS) after thermal desorption and (ii) the joint use of IMS and infrared (IR) spectroscopy after liquid-liquid microextraction (LLME) to enable the sensitivity-enhanced detection and double confirmation of ecstasy (MDMA) abuse. Both strategies proved effective for the intended purpose. Analysing saliva by IMS after thermal desorption, which provides a limit of detection (LOD) of 160μgL(-1), requires adding 0.2M acetic acid to the sample and using the truncated negative second derivative of the ion mobility spectrum. The joint use of IMS and IR spe…

AdultMaleSpectrophotometry InfraredIon-mobility spectrometryInfraredN-Methyl-34-methylenedioxyamphetamineLiquid-Liquid ExtractionThermal desorptionAnalytical chemistryInfrared spectroscopyBiochemistryAnalytical ChemistryIonLiquid–liquid extractionLimit of DetectionHumansSpectroscopySalivaDetection limitChromatographyChemistryIllicit DrugsOrganic ChemistryGeneral MedicineSubstance Abuse DetectionFemaleJournal of chromatography. A
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Sensitivity of laser-evoked potentials versus somatosensory evoked potentials in patients with multiple sclerosis

2003

Somatosensory evoked potentials (SEPs) play a less important role in the diagnosis of multiple sclerosis (MS) than visually evoked potentials. Since standard SEPs only reflect the dorsal column function, we now investigated spinothalamic tract function in patients with MS using laser-evoked potentials (LEPs).LEPs to thulium laser stimuli (3ms, 540 mJ, 5mm diameter) were recorded from 3 midline positions (Fz, Cz, Pz) in 20 patients with MS, and 6 patients with possible but unconfirmed MS. Peak latencies and peak-to-peak amplitude of the vertex potential negativity (N2) and positivity (P2) were evaluated and compared with normative values from 22 healthy control subjects. Median and tibial ne…

AdultMaleSpinothalamic tractmedicine.medical_specialtyPathologyMultiple SclerosisSpinothalamic TractsHydrocortisoneLaser-Evoked PotentialsInfrared RaysAnti-Inflammatory AgentsAudiologySomatosensory systemPoser criteriaEvoked Potentials SomatosensoryPhysiology (medical)Reaction TimemedicineHumansTibial nerveLegLasersMultiple sclerosisReproducibility of ResultsElectroencephalographyMiddle AgedHandmedicine.diseaseMagnetic Resonance ImagingSensory SystemsNociceptionmedicine.anatomical_structureNeurologySomatosensory evoked potentialCase-Control StudiesImmunoglobulin GSensory ThresholdsFemaleNeurology (clinical)PsychologyClinical Neurophysiology
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Efficacy of single-source rapid kV-switching dual-energy CT for characterization of non-uric acid renal stones: a prospective ex vivo study using ant…

2019

Purpose To investigate the accuracy of rapid kV-switching single-source dual-energy computed tomography (rsDECT) for prediction of classes of non-uric-acid stones. Materials and methods Non-uric-acid renal stones retrieved via percutaneous nephrolithotomy were prospectively collected between January 2017 and February 2018 in a single institution. Only stones >= 5 mm and with pure composition (i.e., >= 80% composed of one component) were included. Stone composition was determined using Fourier Transform Infrared Spectroscopy. The stones were scanned in 32-cm-wide anthropomorphic whole-body phantom using rsDECT. The effective atomic number (Zeff), the attenuation at 40 keV (HU40), 70 ke…

AdultMaleUrologymedicine.medical_treatmentStone compositionNephrolithotomy PercutaneousImaging phantom030218 nuclear medicine & medical imagingRapid kVp switchingRadiography Dual-Energy Scanned Projection03 medical and health scienceschemistry.chemical_compoundSingle-source0302 clinical medicineSpectroscopy Fourier Transform InfraredmedicineHumansUrolithiasiRadiology Nuclear Medicine and imagingProspective StudiesStone compositionKidney stonePercutaneous nephrolithotomyAgedRadiological and Ultrasound TechnologyPhantoms Imagingbusiness.industryGastroenterologyMiddle Agedmedicine.diseaseDual-energy CTchemistry030220 oncology & carcinogenesisMann–Whitney U testRadiographic Image Interpretation Computer-AssistedUric acidFemaleUrinary CalculiKidney stonesDual energy ctTomography X-Ray ComputedNuclear medicinebusinessSettore MED/36 - Diagnostica Per Immagini E RadioterapiaEffective atomic number
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Changes in cerebral oxygen saturation following prone positioning for orthopaedic surgery under general anaesthesia: a prospective observational stud…

2015

Prone positioning is often necessary in orthopaedic surgery. The prone position, however, may result in impaired cerebral venous drainage with a subsequent reduction in cerebral perfusion. As a consequence, cerebral hypoxia may occur with the potential for neurological impairment.We assessed the changes in cerebral oxygen saturation with near-infrared spectroscopy using two different monitors after positioning the patient from supine to prone.Prospective observational study.Primary Care University Hospital, from May 2010 to February 2011.Forty patients undergoing general anaesthetic procedures, of which 35 completed the investigation. Similar measurements were done in 35 volunteers, who wer…

AdultMalemedicine.medical_specialtyAdolescentmedicine.medical_treatmentCerebral oxygen saturationAnesthesia GeneralPatient PositioningYoung AdultOxygen ConsumptionMonitoring Intraoperativemental disordersmedicineProne PositionHumansGeneral anaesthesiaOrthopedic ProceduresProspective StudiesCerebral perfusion pressureProspective cohort studyCerebrumReduction (orthopedic surgery)Spectroscopy Near-Infraredbusiness.industryCerebral hypoxiaMiddle Agedmedicine.diseaseSurgeryProne positionAnesthesiology and Pain MedicineAnesthesiaOrthopedic surgeryFemalebusinessEuropean journal of anaesthesiology
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Increased gait variability during robot-assisted walking is accompanied by increased sensorimotor brain activity in healthy people

2019

Abstract Background Gait disorders are major symptoms of neurological diseases affecting the quality of life. Interventions that restore walking and allow patients to maintain safe and independent mobility are essential. Robot-assisted gait training (RAGT) proved to be a promising treatment for restoring and improving the ability to walk. Due to heterogenuous study designs and fragmentary knowlegde about the neural correlates associated with RAGT and the relation to motor recovery, guidelines for an individually optimized therapy can hardly be derived. To optimize robotic rehabilitation, it is crucial to understand how robotic assistance affect locomotor control and its underlying brain act…

AdultMalemedicine.medical_specialtyBrain activity and meditationHealth InformaticsSensory systemNeuroimagingfNIRSWalking050105 experimental psychologylcsh:RC321-571Premotor cortex03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationGait trainingmedicineHumans0501 psychology and cognitive sciencesTreadmilllcsh:Neurosciences. Biological psychiatry. NeuropsychiatryRAGTGaitGait Disorders NeurologicBrain MappingSupplementary motor areabusiness.industryRobotic rehabilitationResearch05 social sciencesRehabilitationGait variabilityBrainRoboticsSelf-Help DevicesGaitExercise Therapymedicine.anatomical_structureGRFNeurorehabilitationFunctional near-infrared spectroscopyFemalebusinessBrain activityhuman activities030217 neurology & neurosurgeryFunctional near-infrared spectroscopyJournal of NeuroEngineering and Rehabilitation
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Endovascular management of carotid artery dissections with the use of new generation stents and protection systems

2016

Dissection of the internal carotid artery (ICA) is a rare disease, but in young patients is responsible for about 20% of cerebral events. We presented three different cases of ICA dissection, including one iatrogenic and two spontaneous ones, which were successfully managed endovascularly, with the use of different techniques, different protection devices and stents. In this article, the clinical management and details of procedures were described.

AdultMalemedicine.medical_specialtyComputed Tomography Angiographymedicine.medical_treatmentCarotid arteriesCarotid Artery Internal Dissection03 medical and health sciencesPostoperative Complications0302 clinical medicinemedicine.arteryAngioplastymedicineHumanscardiovascular diseasescarotid arterybusiness.industryDissectionAngioplastyEndovascular ProceduresangioplastyIntracranial Aneurysm030208 emergency & critical care medicineMiddle AgedSubarachnoid HemorrhageProtection systemEmbolization TherapeuticCerebral AngiographySurgeryDissectiondissectioncardiovascular systemFemaleStentsSurgeryNeurology (clinical)RadiologyCarotid ArteryInternal carotid arteryCarotid Artery Injuriesbusiness030217 neurology & neurosurgeryRare disease
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Biceps brachii muscle oxygenation in electrical muscle stimulation

2010

The purpose of this study was to compare between electrical muscle stimulation (EMS) and maximal voluntary (VOL) isometric contractions of the elbow flexors for changes in biceps brachii muscle oxygenation (tissue oxygenation index, TOI) and haemodynamics (total haemoglobin volume, tHb = oxygenated-Hb + deoxygenated-Hb) determined by near-infrared spectroscopy (NIRS). The biceps brachii muscle of 10 healthy men (23-39 years) was electrically stimulated at high frequency (75 Hz) via surface electrodes to evoke 50 intermittent (4-s contraction, 15-s relaxation) isometric contractions at maximum tolerated current level (EMS session). The contralateral arm performed 50 intermittent (4-s contrac…

AdultMalemedicine.medical_specialtyContraction (grammar)PhysiologyElectrical muscle stimulationmedicine.medical_treatmentElbowHemodynamicsBlood volumeIsometric exerciseOxidative MetabolismBicepsUpper ExtremityHemoglobinsYoung AdultOxygen ConsumptionIsometric ContractionPhysiology (medical)Internal medicineVoluntary ContractionsmedicineHumansMuscle SkeletalSpectroscopy Near-InfraredBlood Volumebusiness.industryNear-Infrared SpectroscopyGeneral MedicineOxygenationAnatomy090300 BIOMEDICAL ENGINEERINGElectric Stimulation111600 MEDICAL PHYSIOLOGYOxygenmedicine.anatomical_structureTorque110600 HUMAN MOVEMENT AND SPORTS SCIENCEOxyhemoglobinsCardiologyNeuromuscular Electrical StimulationbusinessIndraStra Global
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