Search results for "Medical screening"

showing 10 items of 17 documents

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

2018

Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, we chose as a target the stem-loop RNA structure TSL2, which overlaps with the 5′ splicing site of E7. A small-molecule TSL2-binding compound, homocarbonyltopsentin (PK4C9), was identified that increases E7 splicing to therapeutic levels and rescues downstream molecular alterations in SMA cells. High-resolution NMR combined with molecular modelling revealed that PK4C9 binds to pentaloop conformati…

0301 basic medicineIndolesCOMPOUND LIBRARIESDrug Evaluation PreclinicalGeneral Physics and AstronomyBiotecnologiaAnimals Genetically ModifiedExonMolecular Targeted TherapyRegulatory Elements Transcriptionallcsh:ScienceHUMAN-DISEASE GENESBIOACTIVE SMALL MOLECULESMultidisciplinaryChemistryDrug discovery[CHIM.ORGA]Chemical Sciences/Organic chemistryQImidazolesMUTATION PATTERNExonsSMA*3. Good healthCell biologySurvival of Motor Neuron 2 ProteinPhenotypeCribratgeRNA splicingNUCLEOTIDE STRUCTUREDrosophilaMESSENGER-RNACOMPUTATIONAL TOOLSMedical screeningMYOTONIC-DYSTROPHYScienceMuscular atrophyArticleGeneral Biochemistry Genetics and Molecular BiologyGenètica molecularMuscular Atrophy Spinal03 medical and health sciencesddc:570SPLICING MODIFIERSmedicineAnimalsHumansHIV-1 TARRNA MessengerAtròfia muscularMessenger RNAAlternative splicingRNAGeneral ChemistrySpinal muscular atrophymedicine.diseaseAlternative Splicing030104 developmental biologyRNAlcsh:QRNA Splice SitesHeLa CellsNature Communications
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Testing utricular function by means of on-axis rotation

2005

Subjective visual vertical (SVV) estimation during on-axis rotation provides an efficient screening test of utricle function. The survey demonstrates that isolated disorders of peripheral utricular function can occur while SCC function appears normal.The present study aimed to investigate estimation of SVV during constant velocity yaw rotation (with the head held on-axis--to enhance any asymmetry between right and left utricular responses), as a useful screening test.In all, 230 patients were recruited from the dizziness clinic. For each patient, the SVV was estimated (a) while held stationary, and (b) during constant angular velocity (240 degrees/s), with the head centred on-axis. Bitherma…

AdultMalemedicine.medical_specialtyScreening testAudiologyRotationCaloric testingOtolithic MembraneReference ValuesOphthalmologyOrientationCaloric TestsMedicineHumansMass ScreeningSaccule and UtricleKinesthesisAgedbusiness.industryConstant velocityMedical screeningYawReproducibility of ResultsGeneral MedicineReflex Vestibulo-OcularMiddle AgedVestibular Function TestsIllusionsPeripheralElectrooculographyOtorhinolaryngologyVestibular Diseasesddc: 610VertigoFemalebusiness
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Three-dimensional ultrasound evaluation of ovarian masses.

1995

Seventy-six women with ovarian masses first detected with two-dimensional (2D) ultrasound were then evaluated with three-dimensional (3D) ultrasound. Two-dimensional ultrasound detected four of five ovarian malignancies. One additional ovarian carcinoma was diagnosed by 3D scanning. Observation of papillary projections, characteristics of cystic walls, and the extent of capsular infiltration of tumors was superior with 3D ultrasound as was the calculation of ovarian volume. Fifty-seven of the women studied underwent surgery within 7 days of 3D ultrasound evaluation. Histologic examination of surgical specimens confirmed the 3D sonographic diagnoses. There was one false positive and one fals…

AdultThree dimensional ultrasoundPathologymedicine.medical_specialtymedicine.diagnostic_testAdolescentbusiness.industryMedical screeningUltrasoundObstetrics and Gynecology3d scanning2d ultrasoundMiddle AgedOncologyOvarian carcinomamedicineHumans3D ultrasoundFemaleRadiologyOvarian DiseasesbusinessOvarian malignancyUltrasonographyGynecologic oncology
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Comparison of virtual high-throughput screening methods for the identification of phosphodiesterase-5 inhibitors.

2011

Reliable and effective virtual high-throughput screening (vHTS) methods are desperately needed to minimize the expenses involved in drug discovery projects. Here, we present an improvement to the negative image-based (NIB) screening: the shape, the electrostatics, and the solvation state of the target protein’s ligand-binding site are included into the vHTS. Additionally, the initial vHTS results are postprocessed with molecular mechanics/generalized Born surface area (MMGBSA) calculations to estimate the favorability of ligand-protein interactions. The results show that docking produces very good early enrichment for phosphodiesterase-5 (PDE-5); however, in general, the NIB and the ligand-…

Cyclic Nucleotide Phosphodiesterases Type 5Virtual screeningHigh-Throughput Screening MethodsDrug discoveryChemistryGeneral Chemical EngineeringHigh-throughput screeningMedical screeningStatic ElectricityDrug Evaluation PreclinicalNanotechnologyGeneral ChemistryComputational biologyLibrary and Information SciencesMolecular Dynamics SimulationPhosphodiesterase 5 InhibitorsLigandsComputer Science ApplicationsHigh-Throughput Screening AssaysSubstrate SpecificityUser-Computer InterfaceDocking (molecular)Catalytic DomainJournal of chemical information and modeling
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Differential apolipoprotein(a) isoform expression in heterozygosity is an independent contributor to lipoprotein(a) levels variability

2003

Abstract Background and methods : Lipoprotein(a) [Lp(a)] levels represent an independent risk factor for cardio- and cerebrovascular diseases. Since lipoprotein(a) levels show a wide variability even in subjects with similar apolipoprotein(a) isoforms, we investigated the contribution of apolipoprotein(a) heterozygosity to lipoprotein(a) variance. Lipoprotein(a) levels, apolipoprotein(a) isoforms identification and expression, and the correlation with other lipo-apolipoprotein parameters have been investigated in 628 subjects >18 years of age. Results : In our study, 246 subjects were found heterozygous for apolipoprotein(a) isoforms. Lipoprotein(a) levels were higher in females. About 40% …

Gene isoformAdultMalemedicine.medical_specialtyHeterozygoteApolipoprotein BClinical BiochemistryWestern blotApoprotein(a)BiochemistryProtein expressionLoss of heterozygosityWestern blotInternal medicinemedicineHumansProtein IsoformsAgedApolipoprotein(a) phenotypingmedicine.diagnostic_testbiologyMedical screeningBiochemistry (medical)General MedicineLipoprotein(a)Middle AgedEndocrinologyApolipoproteinsbiology.proteinProtein expressionlipids (amino acids peptides and proteins)FemaleLipoproteinLipoprotein(a)
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Screening for microdeletions of the X-chromosome in non-specific mental retardation

2003

Geneticsmedicine.diagnostic_testbusiness.industryMedical screeningmedicine.diseaselaw.inventionDevelopmental disorderNon specificlawGene duplicationIntellectual disabilityGeneticsMedicinebusinessGenetics (clinical)X chromosomePolymerase chain reactionGenetic testingAmerican Journal of Medical Genetics Part A
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Pilotstudie zur sonogra- phischen Fr�herkennung des Nierenzellkarzinoms

1999

Die zunehmende Zahl der zufallig mit der Ultraschalluntersuchung entdeckter, kleiner, asymptomatischer Nierenzellkarzinome, wirft die Frage der Praktikabilitat und Effektivitat einer systematisierten Screeninuntersuchung des Nierenzellkarzinoms mittels Sonographie auf. Vor diesem Hintergrund wurde eine Machbarkeitsstudie im Rahmen des Fruherkennungsprogramms des Bundesministeriums fur Gesundheit initiiert. Methodik: In 2 Stadten, Mainz und Wuppertal, wurde ein Fruherkennungsprogramm fur das Nierenzellkarzinom etabliert, bei dem allen Einwohnern (Alter uber 40 Jahre) eine kostenlose Ultraschalluntersuchung der Nieren angeboten wurde. Das Screening unterteilte sich in 2 Phasen (Laufzeit 1 Jah…

Gynecologymedicine.medical_specialtyRenal cell carcinomabusiness.industryMedical screeningmedicineRadiology Nuclear Medicine and imagingmedicine.diseasebusinessDer Radiologe
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Klinisches Neugeborenenscreening zur Erfassung angeborener Fehlbildungen

2001

Epidemiologische Daten eines klinischen Neugeborenenscreenings sind die Grundlage, zeitliche und regionale Trends von Fehlbildungspravalenzen zu erfassen, Risikofaktoren und damit Ansatzpunkte fur Praventionsmasnahmen zu ermitteln, Praventionsmasnahmen zu veranlassen bzw. zu uberprufen sowie Forschungsprojekte zu initiieren. Zur Erfassung valider Daten und zur Vermeidung von Beobachter-, Definitions- und Selektionsverzerrungen sollten aktive Erfassungssysteme verwendet werden. 34.211 Lebendgeborene, Totgeborene und Aborte der populationsbezogenen Geburtenkohorte des aktiven Mainzer Geburtenregisters wurden nach einem standardisierten Schema klinisch und sonographisch untersucht und anamnest…

Gynecologymedicine.medical_specialtybusiness.industryClinical investigationRecien nacidoMedical screeningPediatrics Perinatology and Child HealthMedicineSurgeryCongenital diseasebusinessMonatsschrift Kinderheilkunde
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Sonographisches Screening von Nierenzellkarzinomen

2002

Die zunehmende Zahl kleiner und zufallig meist beim Ultraschall entdeckter Nierenzellkarzinome, wirft die Frage auf der Praktikabilitat und Effektivitat einer systematischen Fruherkennungsuntersuchung des Nierenzellkarzinoms mittels Sonographie. Ein 2-Jahres Fruherkennungsprogramm fur das Nierenzellkarzinom (NZK) wurde in den Stadten Mainz und Wuppertal errichtet und der Bevolkerung (Alter > 40 Jahre) kostenlos angeboten. Das Screening wurde in Kooperation mit niedergelassenen Internisten, Allgemeinmediziner und Urologen organisiert und durchgefuhrt. Das Screening beinhaltete eine kostenlose Ultraschalluntersuchung der Nieren, sowie eine Nachuntersuchung nach einem Jahr. Eine Referenzsonogr…

Gynecologymedicine.medical_specialtybusiness.industryMedical screeningFollow up studiesMedicineRadiology Nuclear Medicine and imagingStatistical analysisbusinessDer Radiologe
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Détection du cancer colorectal et des lésions prémalignes par chromoscopie et endoscopie à optique grossissante

2005

En Europe, le cancer colorectal (CCC) est la seconde cause de mortalite consecutive a une pathologie tumorale [1]. En depit des techniques chirurgicales eprouvees et des nouvelles formes de chimiotherapie, les tumeurs invasives, a l’exception des stades du debut, conservent encore a 5 ans des resultats de survie decevants, de l’ordre de 70 % avec envahissement metastatique proximal et seulement 6% en cas de metastase a distance [1]. Les taux de survie et de mortalite du CCR peuvent etre ameliores par une detection de cancer au debut a un stade preclinique. Par consequent, l’incidence du CCR peut etre reduite grâce a une detection endoscopique de lesions premalignes ou de cancers au debut. L…

Gynecologymedicine.medical_specialtybusiness.industryMedical screeningMedicineRadiology Nuclear Medicine and imagingbusinessRectal diseaseColonic diseaseActa Endoscopica
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