Search results for "ADULT"

showing 10 items of 17453 documents

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

2013

International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…

AdultBiallelic MutationRNA Splicing[SDV]Life Sciences [q-bio]DNA Mutational AnalysisBiologymedicine.disease_causeArticleFrameshift mutationGeneticsmedicineHumansMissense mutationAge of OnsetGeneAllelesGenetics (clinical)BRCA2 ProteinGeneticsMutationPoint mutationComputational BiologyChromosome BreakageBRCA2 ProteinPedigree3. Good healthAmino Acid SubstitutionMutationFemaleRNA Splice SitesChromosome breakageColorectal NeoplasmsEuropean Journal of Human Genetics
researchProduct

Air bubble location inside the uterus after transfer: is the embryo really there?

2007

Objective To demonstrate that the location of the air bubble after embryo transfer (ET) does not necessarily indicate the final embryo location. Design Case report. Setting Private clinic. Patient(s) A couple with primary infertility for whom a diagnosis of bicornuate uterus with a very open angle between horns was confirmed. Intervention(s) Laparoscopy and hysteroscopy were performed before an IVF cycle in which a single embryo was replaced. Main Outcome Measure(s) Air bubble image immediately after ET and gestational sac location 3 weeks later. Result(s) Immediately after a single ET, the air bubble was seen in the left uterine horn. Three weeks later, a gestational sac was seen in the ri…

AdultBicornuate uterusmedicine.medical_specialtyGestational sacUterusPregnancymedicineHumansEmbryo ImplantationLaparoscopyUltrasonographyGynecologymedicine.diagnostic_testbusiness.industryAirUterusObstetrics and GynecologyEmbryoAnatomyEmbryo TransferEmbryo Mammalianmedicine.diseaseEmbryo transfermedicine.anatomical_structureReproductive MedicineHysteroscopyembryonic structuresFemaleAir bubblebusinessFertility and Sterility
researchProduct

Human liver cytosolic epoxide hydrolases.

1988

Human liver epoxide hydrolases were characterized by several criteria and a cytosolic cis-stilbene oxide hydrolase (cEHcso) was purified to apparent homogeneity. Styrene oxide and five phenylmethyloxiranes were tested as substrates for human liver epoxide hydrolases. With microsomes activity was highest with trans-2-methylstyrene oxide, followed by styrene 7, 8-oxide, cis-2-With methylstyrene oxide, cis-1,2-dimethylstyrene oxide, trans-1, 2-dimethylstyrene oxide and 2, 2-dimethylstyrene oxide. With cytosol the same order was obtained for the first three substrates, whereas activity with 2, 2-dimethylstyrene oxide was higher than with cis-1,2-dimethylstyrene oxide and no hydrolysis occurred …

AdultBiochemistryStyreneSubstrate Specificitychemistry.chemical_compoundCytosolStyrene oxideHydrolaseAnimalsHumansEpoxide hydrolaseEpoxide HydrolasesImmunochemistryChromatography Ion ExchangeRatsIsoelectric pointchemistryBiochemistryLiverMicrosomal epoxide hydrolaseEpoxide HydrolasesMicrosomeChromatography GelMicrosomes LiverEpoxy CompoundsElectrophoresis Polyacrylamide GelIsoelectric FocusingEuropean journal of biochemistry
researchProduct

Biocompatibility of various collagen membranes in cultures of human PDL fibroblasts and human osteoblast-like cells

2004

The aim of the present study was to evaluate the biocompatibility of differently cross-linked collagen membranes in cultures of human PDL fibroblasts and human osteoblast-like cells. Four collagen membranes [BioGide (BG), BioMend (BM), Ossix (OS) and TutoDent (TD)] were tested. Cells plated on culture dishes (CD) served as positive controls. Six specimens of each membrane were incubated with (1) human PDL fibroblasts [2 x 10(4) cells] (n=24), and (2) human osteoblast-like cells (SaOs-2) [2 x 10(4) cells] (n=24) under standardized conditions. After 7 days, adherent cells were stained with hematoxylin and counted using a reflected light microscope and the cell density per square millimeter wa…

AdultBiocompatibilityPeriodontal LigamentFibrillar CollagensCellH&E stainBiocompatible MaterialsCell morphologyStatistics NonparametricMaterials TestingCell AdhesionTumor Cells CulturedmedicineHumansPeriodontal fiberCell adhesionCells CulturedOsteoblastsChemistryMembranes ArtificialOsteoblastFibroblastsMolecular biologyCross-Linking Reagentsmedicine.anatomical_structureMembraneImmunologyGuided Tissue Regeneration PeriodontalMicroscopy Electron ScanningFemaleOral SurgeryClinical Oral Implants Research
researchProduct

Meta-analysis: remission and response from control arms of randomized trials of biological therapies for active luminal Crohn's disease.

2008

1. Aliment Pharmacol Ther. 2008 Jun;27(12):1210-23. Epub 2008 Mar 14. Meta-analysis: remission and response from control arms of randomized trials of biological therapies for active luminal Crohn's disease. Tinè F, Rossi F, Sferrazza A, Orlando A, Mocciaro F, Scimeca D, Olivo M, Cottone M. Divisione di Gastroenterologia, Azienda Ospedaliera V. Cervello, Palermo, Italy. fabiotinemd@virgilio.it BACKGROUND: Remission and response are the main outcomes to evaluate the efficacy of new treatments for Crohn's disease (CD). AIM: To explain variation of remission and response rates in active luminal CD. METHODS: We studied control patients from trials of biological therapies through articles retriev…

AdultBiological TherapyMalePlacebosTreatment Outcomemetanalysis. biologics.crohn's diseaseCrohn DiseaseDose-Response Relationship DrugRemission InductionHumansFemaleRandomized Controlled Trials as Topic
researchProduct

Adaptive frequency decomposition of EEG with subsequent expert system analysis.

2001

We present a hybrid system for automatic analysis of clinical routine EEG, comprising a spectral analysis and an expert system. EEG raw data are transformed into the time-frequency domain by the so-called adaptive frequency decomposition. The resulting frequency components are converted into pseudo-linguistic facts via fuzzification. Finally, an expert system applies symbolic rules formulated by the neurologist to evaluate the extracted EEG features. The system detects artefacts, describes alpha rhythm by frequency, amplitude, and stability and after artefact rejection detects pathologic slow activity. All results are displayed as linguistic terms, numerical values and maps of temporal exte…

AdultBiometryAdolescentComputer scienceFuzzy setStability (learning theory)Health InformaticsExpert SystemsElectroencephalographycomputer.software_genreFuzzy logicFuzzy LogicmedicineHumansSensitivity (control systems)Diagnosis Computer-AssistedTheta RhythmAgedAged 80 and overSignal processingBrain Diseasesmedicine.diagnostic_testbusiness.industryPattern recognitionElectroencephalographyMiddle AgedExpert systemComputer Science ApplicationsAlpha RhythmDelta RhythmHybrid systemArtificial intelligencebusinesscomputerAlgorithmComputers in biology and medicine
researchProduct

Effect of contact lenses on ocular biometric measurements based on swept-source optical coherence tomography

2019

ABSTRACT Purpose: To determine the reliability of swept- source optical coherence tomography in cases in which soft contact lenses cannot be removed when acquiring biometric measurements. Methods: Eight subjects were included and only one eye per participant was analyzed. Each eye was measured six times by swept-source optical coherence tomography with the IOLMaster 700 instrument (Carl Zeiss Meditec, Jena, Germany). Axial length, central corneal thickness, anterior chamber depth, lens thickness, and keratometric measurements were evaluated for the naked eye and while wearing soft contact lenses of three different powers (-1.5, -3.0, and +2.0 D). Results: There were statistically significan…

AdultBiometryMaterials sciencegenetic structuresContact LensesTomography optical coherenceStatistics Nonparametriclaw.invention03 medical and health sciences0302 clinical medicineOpticslcsh:OphthalmologyOptical coherence tomographyLens thicknessAnterior Eye SegmentReference ValueslawmedicineHumansContact lensesAnalysis of VarianceCross-Over Studiesmedicine.diagnostic_testbusiness.industryReproducibility of ResultsGeneral MedicineAxial lengtheye diseasesContact lensLens (optics)Axial Length EyeOphthalmologylcsh:RE1-994Reference values030221 ophthalmology & optometrysense organsTomographybusinessTomography Optical CoherenceArquivos Brasileiros de Oftalmologia
researchProduct

Evaluation of the practicality of optical biometry and applanation ultrasound in 253 eyes

2003

Abstract Purpose To evaluate the percentage of eyes that could not be measured using optical biometry and ultrasound applanation and the reasons. Setting Department of Ophthalmology, Johannes Gutenberg-University Hospital, Mainz, Germany. Methods Optical biometry (IOLMaster®, Carl Zeiss Meditec AG) and A-scan ultrasound biometry were performed consecutively in 253 eyes scheduled for cataract surgery the next day. Lens opacities were evaluated with the Opacity Lensmeter (Interzeag), and a slitlamp examination and measurement of visual acuity were performed. The 2 techniques were compared in terms of the rate of and reasons for primary measurement failure. Results Measurement with the IOLMast…

AdultBiometryVisual acuityAdolescentLightPseudophakiagenetic structuresmedicine.medical_treatmentEye diseaseVision DisordersVisual AcuityIntraocular lensDiagnostic Techniques OphthalmologicalEyeRefraction OcularCataractOptical biometryLens Implantation IntraocularHumansMedicineChildAgedUltrasonographyAged 80 and overLenses Intraocularbusiness.industryUltrasoundMiddle AgedCataract surgerymedicine.diseaseeye diseasesSensory SystemsOptical axisOphthalmologyInterferometryChild PreschoolOptometrySurgerysense organsmedicine.symptombusinessPseudophakiaJournal of Cataract and Refractive Surgery
researchProduct

Unique astrocyte ribbon in adult human brain contains neural stem cells but lacks chain migration

2003

The subventricular zone (SVZ) is a principal source of adult neural stem cells in the rodent brain, generating thousands of olfactory bulb neurons every day. If the adult human brain contains a comparable germinal region, this could have considerable implications for future neuroregenerative therapy. Stem cells have been isolated from the human brain, but the identity, organization and function of adult neural stem cells in the human SVZ are unknown. Here we describe a ribbon of SVZ astrocytes lining the lateral ventricles of the adult human brain that proliferate in vivo and behave as multipotent progenitor cells in vitro. This astrocytic ribbon has not been observed in other vertebrates s…

AdultBiopsyanimal diseasesSubventricular zoneBiologyCell MovementNeurospheremedicineHumansCells CulturedNeuronsMultidisciplinaryMultipotent Stem CellsNeurogenesisBrainCell DifferentiationAnatomyOlfactory BulbNeural stem cellNeuroepithelial cellNeuropoiesismedicine.anatomical_structurenervous systemAstrocytesAutopsyStem cellNeuroscienceCell DivisionAdult stem cellNature
researchProduct

Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts

2020

Background The recent identification of embryonic cell-free DNA in spent blastocyst media has opened a new era of possibilities for noninvasive embryo aneuploidy testing in assisted reproductive technologies. Yet, previous studies assessing a limited number of embryos reported variable concordance between embryonic cell-free DNA and trophectoderm biopsies, thus questioning the validity of this approach. Objective This study aimed to evaluate the concordance and reproducibility of testing embryonic cell-free DNA vs trophectoderm DNA obtained from the same embryo in a large sample of human blastocysts and to assess the contribution of the inner cell mass and trophectoderm to embryonic cell-fr…

AdultBiopsymedicine.medical_treatmentFertilization in VitroReproductive technologySensitivity and SpecificityIntracytoplasmic sperm injectionEmbryo Culture TechniquesAndrologyYoung Adult03 medical and health sciences0302 clinical medicinemedicineHumansInner cell massProspective StudiesSperm Injections Intracytoplasmic030212 general & internal medicineBlastocystPreimplantation Diagnosis030219 obstetrics & reproductive medicinebusiness.industryObstetrics and GynecologyEmbryoAneuploidyEmbryonic stem cellEmbryo transferCulture MediaTrophoblastsBlastocystmedicine.anatomical_structureembryonic structuresFemalebusinessCell-Free Nucleic AcidsEmbryo qualityMaternal AgeAmerican Journal of Obstetrics and Gynecology
researchProduct