Search results for "Clinical Science"

showing 10 items of 105 documents

Transpalpebral tonometry: reliability and comparison with Goldmann applanation tonometry and palpation in healthy volunteers

2005

Background/aim: TGDc-01 is a new, portable, transpalpebral tonometry device. The aim of this study was to evaluate the reproducibility of this method, including intraobserver and interobserver deviations, and to compare the results with those of Goldmann applanation tonometry and palpation of intraocular pressure (IOP). Methods: A total of 40 eyes of 20 healthy volunteers were included. Two independent parallel observers (1 and 2) performed three replicate measurements per eye, respectively, both using TGDc01 tonometry, one observer (3) performed three replicate measurements using Goldmann applanation tonometry, and one observer (4) measured the IOP via palpation. Intraindividual deviations…

AdultMaleIntraocular pressuremedicine.medical_specialtyClinical Science - Scientific ReportsPalpationGoldmann applanation tonometryTonometry OcularCellular and Molecular NeuroscienceInterquartile rangeOphthalmologyHealthy volunteersHumansMedicineIn patientIntraocular PressureObserver VariationReproducibilityPalpationmedicine.diagnostic_testbusiness.industryReproducibility of ResultsEquipment DesignSensory SystemsOphthalmologyQuartileFemalebusinessBritish Journal of Ophthalmology
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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

2011

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular in…

AdultMalemedicine.medical_specialtyAdolescentMucopolysaccharidosisClinical SciencesHeart Valve DiseasesReviewComorbidityCoronary Artery DiseaseDiseaseMuscle hypertrophyCoronary artery diseaseElectrocardiographyVentricular hypertrophyTachycardiaInternal medicineGeneticsmedicineHumansGenetics(clinical)Age of OnsetSinusChildPreschoolGenetics (clinical)GlycosaminoglycansGenetics & Hereditymedicine.diagnostic_testbusiness.industryMitral Valve InsufficiencyHypertrophyAortic Valve StenosisEnzyme replacement therapyMucopolysaccharidosesMiddle Agedmedicine.diseaseLeft VentricularCausalityTachycardia SinusEchocardiographyChild PreschoolAortic valve stenosisCardiologyHypertrophy Left VentricularFemalebusinessElectrocardiographyJournal of Inherited Metabolic Disease
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Corneal tattooing: an alternative treatment for disfiguring corneal scars.

2002

Background: The performance and results of corneal tattooing are described in a case series of 11 patients suffering from a disfiguring corneal scar using a technique similar to conventional dermatography. Methods: Drawing ink in different shades was applied into the anterior corneal stroma by punctures performed with a conventional spatula needle. Results: Up to 4 years after surgery all patients still had satisfactory staining of the formerly cosmetically disfiguring corneal scar. Conclusion: Tattooing of unsightly corneal scars proved to be an efficient and easy to perform technique, yielding acceptable results during follow up.

AdultMalemedicine.medical_specialtyDermatographygenetic structuresAdolescentEye diseaseTreatment outcomeCorneal DiseasesCellular and Molecular NeuroscienceCicatrixCorneaOphthalmologyMedicineHumansCorneal ScarAgedTattooingbusiness.industryCorneal DiseasesClinical ScienceMiddle Agedmedicine.diseaseeye diseasesSensory SystemsAlternative treatmentSurgeryOphthalmologymedicine.anatomical_structureTreatment OutcomePatient SatisfactionFemaleInkMailboxsense organsCorneal tattooingbusinessCorneal InjuriesFollow-Up StudiesThe British journal of ophthalmology
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Stereotactic fractionated irradiation of optic nerve sheath meningioma: a new treatment alternative

2002

Background: Primary optic nerve sheath meningioma (ONSM) is a rare but almost invariably blinding tumour when its natural history is observed in a “wait and see” strategy. Surgery has hitherto only been advocated in case of progressive disease involving intracranial structures, as it leads to iatrogenic blindness in the overwhelming majority of cases. Therefore, treatment options bearing lesser risk of functional deterioration are highly desirable, both in cases of intracranial involvement as well as during earlier phases of the disease which are currently generally left untreated. The authors report the outcome of the largest series of patients to date treated by stereotactic fractionated …

AdultMalemedicine.medical_specialtyVisual acuityAdolescentmedicine.medical_treatmentVisual AcuityMeningiomaCellular and Molecular NeurosciencemedicineCranial nerve diseaseHumansAgedbusiness.industryOptic Nerve NeoplasmsDose fractionationMiddle AgedClinical Sciencemedicine.diseaseOptic Nerve NeoplasmSensory SystemsOptic nerve sheath meningiomaSurgeryRadiation therapyOphthalmologyTreatment OutcomeEditorialFemaleDose Fractionation Radiationmedicine.symptomRadiotherapy ConformalVisual FieldsbusinessMeningiomaProgressive disease
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Blood group related antigens in ocular cicatricial pemphigoid

2004

Aim: To study the MUC5AC and the blood group related antigen expression in ocular cicatricial pemphigoid (OCP) according to the distribution of Lewis and secretor phenotypes in OCP patients compared to normal subjects. Methods: Immunostaining was performed on conjunctival biopsy specimens from 22 consecutive patients suffering from OCP, using monoclonal antibodies (Mabs) directed against the peptidic core MUC5AC mucin (anti-M1/MUC5AC Mabs) and against the saccharide moieties (anti-blood group related antigens). These latter included anti-Lea, anti-Leb, anti-sialyl Lea, and H type 2 Mabs, which immunoreact with Lewis positive and non-secretor (Lea), Lewis positive and secretor (Leb), Lewis p…

Adultmedicine.drug_classPopulationPemphigoid Benign Mucous MembraneClinical Science - Scientific ReportsMucin 5ACMonoclonal antibodyConjunctival DiseasesSerologyCellular and Molecular Neurosciencefluids and secretionsLewis Blood Group AntigensAntigenImmunopathologyMedicineHumans[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrganseducationAgedAutoimmune diseaseAged 80 and overeducation.field_of_studybusiness.industryMucinMucinsEpithelial CellsMiddle Agedmedicine.diseaseMucin-5BSensory Systemseye diseasesOphthalmologyPhenotypeImmunologyBlood Group Antigenssense organsGoblet Cellsbusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyImmunostaining
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Reduced In Vivo Aortic Uptake of Radiolabeled Oxidation-Specific Antibodies Reflects Changes in Plaque Composition Consistent With Plaque Stabilizati…

2004

Objective— Labeled oxidation-specific antibodies (Ox-AB) detect, quantify, and noninvasively image lipid-rich atherosclerotic lesions. However, it is unknown whether Ox-AB detect plaque stabilization. Methods and Results— The aortic uptake of intravenously injected 125 I-MDA2 (Ox-AB to malondialdehyde [MDA]–low-density lipoprotein [LDL]) was quantitated in: (1) LDL receptor−/− mice with established atherosclerosis continued on Western diet (Progression) or switched to chow (Regression) or chow+vitamins E and C (Regression-VIT) for 6 months; and (2) Watanabe rabbits (3- to 57-months old) with naturally evolved atherosclerotic lesions. In mice, the Progression group had more extensive athero…

AgingPathologyArteriosclerosisCardiorespiratory Medicine and HaematologyCardiovascularIodine RadioisotopesMiceEpitopeschemistry.chemical_compoundAntibody SpecificityMalondialdehydeReceptorsMonoclonal2.1 Biological and endogenous factorsMacrophageAetiologyradionuclideAortaFibrous capAntibodies MonoclonalimagingMalondialdehydeImmunohistochemistryLipoproteins LDLMutant StrainsHeart Diseasemedicine.anatomical_structurelipids (amino acids peptides and proteins)RabbitsCardiology and Cardiovascular MedicineOxidation-ReductionBlood vesselmedicine.medical_specialtyoxidationLipoproteinsClinical SciencesBiologyAntibodiesLDLIn vivomedicine.arterymedicineAnimalsHeart Disease - Coronary Heart DiseaseAortaAtherosclerosisMice Mutant StrainsReceptors LDLRadioimmunodetectionCardiovascular System & HematologychemistryImmunostainingLipoproteinArteriosclerosis, Thrombosis, and Vascular Biology
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Manifesto on small airway involvement and management in asthma and chronic obstructive pulmonary disease: an Interasma (Global Asthma Association - G…

2016

International audience; Evidence that enables us to identify, assess, and access the small airways in asthma and chronic obstructive pulmonary disease (COPD) has led INTERASMA (Global Asthma Association) and WAO to take a position on the role of the small airways in these diseases. Starting from an extensive literature review, both organizations developed, discussed, and approved the manifesto, which was subsequently approved and endorsed by the chairs of ARIA and GA2LEN. The manifesto describes the evidence gathered to date and defines and proposes issues on small airway involvement and management in asthma and COPD with the aim of challenging assumptions, fostering commitment, and bringin…

Allergic Rhinitislcsh:Immunologic diseases. AllergyPulmonary and Respiratory MedicineManifestomedicine.medical_specialtyAllergyChronic Obstructive Pulmonary DiseaseImmunologyMEDLINEDiseaseSettore MED/10 - Malattie Dell'Apparato Respiratoriosmall airways asthma aerosolBiochemistry03 medical and health sciences0302 clinical medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology/dk/atira/pure/subjectarea/asjc/2700/2723Position Article and GuidelinesmedicineImmunology and Allergy030212 general & internal medicinesmall airwayIntensive care medicineAsthmaCOPDLungbusiness.industryasthma airway inflammationOrganic Chemistrysmall airways asthma control aerosol1103 Clinical SciencesChronic Obstructive Pulmonary Disease Patientasthmarespiratory systemmedicine.diseaserespiratory tract diseasesmedicine.anatomical_structure030228 respiratory systemPhysical therapylcsh:RC581-607AirwaybusinesscontrolThe World Allergy Organization Journal
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Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acet…

2010

Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rhN-acetylgalactosamine 4-sulfatase). Pulmonary function tests prior to and for up to 240 weeks of weekly infusions of rhASB at 1 mg/kg were completed in 56 patients during Phase 1/2, Phase 2, Phase 3 and Phase 3 Extension trials of rhASB and the Survey Study. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1) and, in a subset of patients, maximum voluntary ventilation (MVV), were analyzed as absolute volume in liters. FEV1 and FVC showed little change f…

Arylsulfatase BAdultmedicine.medical_specialtyVital capacityAdolescentMucopolysaccharidoses (MPS)N-Acetylgalactosamine-4-SulfataseMucopolysaccharidosis type VIClinical SciencesUrologyPulmonary function testingPlacebos03 medical and health sciencesFEV1/FVC ratio0302 clinical medicineRare DiseasesDouble-Blind MethodClinical ResearchmedicineGeneticsHumansGenetics(clinical)Longitudinal StudiesChildPreschoolLungGenetics (clinical)Genetics & Heredity0303 health sciencesLungMucopolysaccharidosis VIbusiness.industry030305 genetics & heredityEvaluation of treatments and therapeutic interventionsMucopolysaccharidosis VIEnzyme replacement therapyRecombinant Proteins3. Good healthSurgeryRespiratory Function Testsmedicine.anatomical_structureCross-Sectional StudiesResearch DesignChild Preschool6.1 PharmaceuticalsOriginal Articlebusiness030217 neurology & neurosurgery
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Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

2019

Este es el artículo que se ha publicado de forma definitiva en: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-019-0262-8 En este artículo también participa Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia y Rafael Tabarés-Seisdedos. Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer t…

Autism.AutismComorbidityBioinformaticsAutismo.lcsh:RC346-429Expresión génica.TranscriptomeAfectividad - Trastornos.0302 clinical medicineNeoplasmsGene expression2.1 Biological and endogenous factorsAetiologyCàncerCáncer - Aspectos genéticos.ComputingMilieux_MISCELLANEOUSCancer0303 health sciencesProstate CancerBrainAffective disorders.3. Good healthPsychiatry and Mental healthMental HealthSignal transductionSignal TransductionBiotechnologyUrologic DiseasesIntellectual and Developmental Disabilities (IDD)1.1 Normal biological development and functioningClinical SciencesBiologyASDBiological pathway03 medical and health sciencesDevelopmental NeuroscienceUnderpinning researchmental disordersGeneticsmedicineHumansAutistic DisorderIntellectual and Developmental DisabilitiesGeneMolecular Biologylcsh:Neurology. Diseases of the nervous systemPI3K/AKT/mTOR pathwayCancer - Genetic aspects.030304 developmental biologyResearchNeurosciencesMultimorbidityCancermedicine.diseaseExpressió gènicaHuman geneticsBrain DisordersMeta-analysisGene expression.AutismGene expressionAutisme[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]TranscriptomeKidney cancer030217 neurology & neurosurgeryDevelopmental BiologyMolecular Autism
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Protocol for developing a mental imagery intervention: a randomised controlled trial testing a novel implementation imagery e-health intervention to …

2019

IntroductionDrowning due to driving into floodwater accounts for a significant proportion of all deaths by drowning. Despite awareness campaigns such as 'If it's flooded, forget it', people continue to drive into floodwater. This causes loss of life, risk to rescuers and damage to vehicles. The aim of this study was to develop and evaluate an online e-health intervention to promote safe driving behaviour during flood events.Methods and analysisThe study will use a 2×3 randomised controlled trial in which participants are randomised into one of two conditions: (1) education about the risks of driving into floodwater or (2) education about the risks of driving into floodwater plus a theory-ba…

Automobile Drivingsocial-cognitive theoriesflooded waterwaysClinical Sciencesdriver behaviourIntentionriskikäyttäytyminenRisk-TakingmielikuvaharjoitteludrivingHumansImageryliikenneturvallisuusteleterveydenhuoltoturvallisuuskasvatusRandomized Controlled Trials as Topicmental imagerywater safetyOther Medical and Health Sciencesdrowningrandomised controlled trial testingliikennekäyttäytyminentulvatTelemedicineFloodsPsychotherapyPublic Health and Health Servicesmental imagery interventione-health intervention
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