Search results for "Aberration"

showing 10 items of 293 documents

Pigmented esthesioneuroblastoma showing dual differentiation following transplantation in nude mice

1989

Esthesioneuroblastoma (ESTH) is a neuroepithelial-cell-derived neoplasm of the olfactory mucosa composed of homogeneous small round cells which contain neurosecretory granules. Melanin has been detected in such tumours only occasionally. Here we describe a new case of ESTH with divergent differentiation. The primary neoplasm was found in a 67 year-old female, involving the left nasal and maxillary sinus; she died of cerebral metastasis ten months after diagnosis. Histologically only small round cells were seen, with S-100 and NSE positivity. Electron microscopy revealed neurosecretory granules and filaments, as well as the occasional presence of melanosomes. A nude mice xenograft line has b…

medicine.medical_specialtyCell typePathologyTransplantation HeterologousMice NudeBiologyPathology and Forensic MedicineMiceOlfactory mucosaEsthesioneuroblastomaTumor Cells CulturedmedicineAnimalsHumansNeuroectodermal Tumors Primitive PeripheralMolecular BiologyAgedChromosome AberrationsChromosome 7 (human)Olfactory NeuroblastomaCytogeneticsCell BiologyGeneral Medicinemedicine.diseaseImmunohistochemistryPrimary NeoplasmTransplantationMicroscopy Electronmedicine.anatomical_structureFemaleNeoplasm TransplantationVirchows Archiv A Pathological Anatomy and Histopathology
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Bilateral Ultrathin Descemet’s Stripping Automated Endothelial Keratoplasty vs. Bilateral Penetrating Keratoplasty in Fuchs’ Dystrophy: Corneal Highe…

2021

Background and Objectives: The objective of this paper is to compare the visual outcomes and quality of life (QoL) after bilateral ultrathin Descemet’s stripping automated endothelial keratoplasty (UT-DSAEK) with bilateral penetrating keratoplasty (PK) for Fuchs’ endothelial dystrophy (FED). Materials and Methods: Retrospective comparative cohort study, including 11 patients with FED who underwent bilateral PK and 13 patients with FED who underwent bilateral UT-DSAEK. All patients were already pseudophakic or had undergone a combined cataract procedure. The main outcomes were corrected distance visual acuity (CDVA) corneal higher-order aberrations (HOAs), contrast sensitivity (CS) and quali…

medicine.medical_specialtyMedicine (General)Visual acuityDistance visual acuitygenetic structuresvisual acuitymedia_common.quotation_subjectmedicine.medical_treatmentFuchs' dystrophyArticleCohort StudiesR5-920Quality of lifeOphthalmologyhigher-order aberrationmedicineContrast (vision)HumansEye surgerymedia_commonRetrospective Studiescontrast sensitivityhigher-order aberrationsbusiness.industryFuchs' Endothelial DystrophyDystrophybilateral penetrating keratoplastyGeneral Medicinemedicine.diseasebilateral ultrathin DSAEKeye diseasesAberrations of the eyebilateral ultrathin DSAEK; bilateral penetrating keratoplasty; visual acuity; contrast sensitivity; higher-order aberrations; quality of lifequality of lifevisual acuity.medicine.symptombusinessDescemet Stripping Endothelial KeratoplastyKeratoplasty PenetratingMedicina
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Aberrant copy numbers of ALK gene is a frequent genetic alteration in neuroblastomas.

2009

A total of 50 neuroblastomas were assessed for frequency of ALK gene copy number aberrations by interphase fluorescence in situ hybridization using a break-apart fluorescence in situ hybridization probe. The data were compared with status of MYCN, 11q, 17q, and 1p36. We observed ALK aberrations (amplification, 1 of 45; gain, 15 of 45 and loss/imbalance, 11 of 45) in a total of 27 (60%) of 45 neuroblastomas. Synchronic MYCN and ALK aberrations accounted for 23 of 45 (51%) tumors; however, MYCN alterations were also detected in 11 (60%) of 18 tumors without ALK aberrations. Our data suggest that copy number aberrations of the ALK gene is a frequent genetic event in the development of neurobla…

medicine.medical_specialtyPathologyGene DosageBiologyPathology and Forensic MedicineNeuroblastomahemic and lymphatic diseasesNeuroblastomamedicineAnaplastic lymphoma kinaseHumansAnaplastic Lymphoma KinaseCopy number aberrationneoplasmsIn Situ Hybridization FluorescenceOncogene ProteinsN-Myc Proto-Oncogene Proteinmedicine.diagnostic_testGenetic AlterationCancerNuclear ProteinsReceptor Protein-Tyrosine KinasesAnatomical pathologyProtein-Tyrosine Kinasesmedicine.diseaseTissue Array AnalysisCancer researchAutonomic neuropathyFluorescence in situ hybridizationHuman pathology
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Establishment and Characterization of a Continuous Human Chondrosarcoma Cell Line, ch-2879: Comparative Histologic and Genetic Studies with Its Tumor…

2003

Chondrosarcomas are malignant cartilage-forming tumors that represent the second most common malignant solid tumor of bone. These biologically poorly understood neoplasms vary considerably in clinical presentation and biologic behavior. Chemotherapy and radiation therapy are generally ineffective. Here we describe the establishment and characterization of a new human chondrosarcoma cell line named ch-2879, and we compare the cell line with its tumor of origin. The cell line was established from a recurrent grade 3 chondrosarcoma of the chest wall and characterized by growth kinetics and morphologic studies. Immunocytochemistry and RT-PCR were performed to examine the expression of cartilage…

medicine.medical_specialtyPathologyPopulationCell Culture TechniquesChondrosarcomaBone NeoplasmsChromosomal translocationVimentinPathology and Forensic MedicineCyclin D1Tumor Cells CulturedmedicineHumanseducationMolecular BiologyMetaphaseChromosome Aberrationseducation.field_of_studymedicine.diagnostic_testbiologyCytogeneticsKaryotypeCell BiologyFlow Cytometrymedicine.diseaseMicroscopy ElectronKaryotypingbiology.proteinCancer researchChondrosarcomaFluorescence in situ hybridizationLaboratory Investigation
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Changes in higher-order aberrations after implantation of a foldable iris-claw lens in myopic phakic eyes

2006

Purpose To evaluate the change in higher-order aberrations (HOAs) after implantation of a foldable iris-claw phakic intraocular lens (pIOL) in myopic eyes. Setting Department of Ophthalmology, Johannes Gutenberg-University, Mainz, Germany. Methods This prospective nonrandomized comparative self-controlled trial included 41 eyes that had implantation of a foldable iris-claw pIOL between July 2003 and November 2004. All patient data for HOAs (Zernike coefficient) were measured and calculated using the same pupil size preoperatively and postoperatively, and the root-mean-square (RMS) wavefront error was calculated. Examinations were performed preoperatively as well as 1 week and 3, 6, and 12 m…

medicine.medical_specialtyRefractive errorgenetic structuresAnterior ChamberEye diseaseVisual AcuityIrisPhakic intraocular lensCorneaVision disorderLens Implantation IntraocularOphthalmologyLens CrystallineMyopiaHumansMedicineProspective StudiesIris clawDioptreLenses Intraocularbusiness.industryRefractive Errorsmedicine.diseaseeye diseasesSensory SystemsOphthalmologyAberrations of the eyemedicine.anatomical_structureLens (anatomy)Silicone ElastomersSurgerysense organsmedicine.symptombusinessJournal of Cataract and Refractive Surgery
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The world of twins: an update

2010

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

medicine.medical_specialtyTwinsIntrauterine growth restrictionInfant Newborn DiseasesCongenital AbnormalitiesTwins monozygotic dizygotic twin–twin transfusion syndrome selective intrauterine growth restriction developmental delaySettore MED/38 - Pediatria Generale E SpecialisticaPregnancyPlacentaDiseases in TwinsHumansMedicineChromosome AberrationsPregnancyFetusbusiness.industryObstetricsMortality rateInfant NewbornObstetrics and Gynecologymedicine.diseasemedicine.anatomical_structureRelative riskPediatrics Perinatology and Child HealthGestationFemaleMonochorionic twinsPregnancy MultiplebusinessThe Journal of Maternal-Fetal & Neonatal Medicine
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Interocular differences in visual quality due to ocular aberrations and scattering in a patient with post-traumatic anisocoria: A case report

2012

AbstractA 41-year-old patient with visual disturbances after an ocular trauma in right eye three years before was carefully analyzed and discussed. No corneal or intraocular sequelae were present. Only a significant anisocoria could be observed. Right eye (RE) achieved a best spectacle-corrected visual acuity (BSCVA) of 0.05 LogMAR with a refraction of +0.50 sphere and −1.25 cylinder. Left eye (LE) achieved a BSCVA of 0.0 LogMAR with a refraction of +0.75 sphere and −1.00 cylinder. In photopic conditions pupil diameter was 4.96mm for RE and 3.02mm for LE whereas in scotopic conditions, these values were 7.45mm and 6.71mm, respectively. More significant levels of higher-order corneal and ocu…

medicine.medical_specialtyVisual acuitygenetic structuresCase ReportPupilScatteringlcsh:OphthalmologyOphthalmologymedicinelcsh:QC350-467AberraciónScotopic visionPupilaAnisocoriabusiness.industryFunción de dispersión del puntoPupil sizePupilRefractionAnisocoriaPoint spread functioneye diseasesDispersiónlcsh:RE1-994Visual DisturbanceOptometrysense organsmedicine.symptombusinessAberrationlcsh:Optics. LightPhotopic visionOptometryJournal of Optometry
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Molecular Analysis of the Androgen Receptor Gene in 52 Patients with Complete or Partial Androgen Insensitivity Syndrome: A Collaborative Study

1992

In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and …

medicine.medical_specialtyX Chromosomemedicine.drug_classEndocrinology Diabetes and MetabolismMolecular Sequence DataDeoxyribonuclease HindIIIBiologyurologic and male genital diseasesPolymerase Chain Reactionchemistry.chemical_compoundEndocrinologyInternal medicinemedicineHumansPartial androgen insensitivity syndromeGeneSex Chromosome AberrationsBase SequenceAndrogen Receptor GeneDNASyndromeMetribolonemedicine.diseaseAndrogenMolecular analysisEndocrinologychemistryReceptors AndrogenMutationAndrogensAndrogen insensitivity syndromeRestriction fragment length polymorphismPolymorphism Restriction Fragment LengthDNAHormone Research
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Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options

2014

Background Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important. Patient and methods A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C > T (Arg 1561 Stop) mutation of the ABCA3 gene was identifie…

medicine.medical_specialtymedicine.medical_treatmentGenes RecessiveDiseaseGene mutationABCA3Fatal OutcomeAdrenal Cortex HormonesInternal medicinemedicineHumansLung transplantationTreatment FailureIntensive care medicineChromosome AberrationsRespiratory Distress Syndrome NewbornLungbiologybusiness.industryHomozygoteInfant NewbornInterstitial lung diseaseInfantHydroxychloroquinemedicine.diseasePathophysiologymedicine.anatomical_structureMutationPediatrics Perinatology and Child HealthCodon Terminatorbiology.proteinATP-Binding Cassette TransportersFemaleMacrolidesLung Diseases InterstitialRespiratory InsufficiencybusinessHydroxychloroquinemedicine.drugKlinische Pädiatrie
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New intraocular lens for achromatizing the human eye.

2007

To describe the design of a new intraocular lens (IOL) capable of correcting spherical and chromatic aberrations when implanted in the human eye.University of Murcia, Murcia, and University of Valencia, Valencia, Spain.A hybrid singlet achromatic IOL was designed. The IOL has a combination of a refractive and a diffractive surface, with 1 of the surfaces being aspherical. Optical simulations were used to model the polychromatic modulation transfer function (MTF) in pseudophakic eyes to explain the differences in optical quality afforded by the achromatic IOL. Parameters such as focus shift, optical path difference, through-focus, and robustness to tilt and decentering of achromatic IOLs wer…

medicine.medical_treatmentIntraocular lensEyeProsthesis DesignModels Biologicallaw.inventionOpticslawChromatic aberrationmedicineHumansDioptrePhysicsLenses Intraocularbusiness.industryModels TheoreticalCentrationSensory SystemsOptical qualityOphthalmologymedicine.anatomical_structureTilt (optics)Achromatic lensOptometrySurgeryHuman eyebusinessColor PerceptionJournal of cataract and refractive surgery
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