Search results for "Aberration"

showing 10 items of 293 documents

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

MalePediatricsmedicine.medical_specialtyAdolescentDNA Mutational AnalysisSettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationIntellectual DisabilityGene duplicationGeneticsmedicinePervasive developmental disorderHumansArray comparative genomic hybridization autistic disorder 1p duplication mental retardationChildGenetics (clinical)In Situ Hybridization FluorescenceGeneticsChromosome AberrationsComparative Genomic HybridizationModels Geneticbusiness.industryChromosomemedicine.diseaseDevelopmental disorderMental deficiencyPhenotypeAutism spectrum disorderChild Development Disorders PervasiveChromosomes Human Pair 1MutationAutismbusinessComparative genomic hybridization
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First results of a European multi-center registry of patients with anorectal malformations.

2013

Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…

MalePediatricsmedicine.medical_specialtyPatient characteristicsComorbidityGenomic disorders and inherited multi-system disorders [IGMD 3]Anus ImperforatePostoperative ComplicationsEnvironmental riskHealth careFemale patientmedicineHumansAbnormalities MultipleRegistriesRetrospective StudiesChromosome Aberrationsbusiness.industryIncidence (epidemiology)IncidenceInfant NewbornUrogenital AbnormalityGeneral MedicineSyndromeHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Anorectal MalformationsEuropeTreatment OutcomeHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]Urogenital AbnormalitiesPediatrics Perinatology and Child HealthCohortEtiologySurgeryFemalebusiness
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Umbilical cord blood transplantation from unrelated donors in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia

2014

Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't; There are very few disease-specific studies focusing on outcomes of umbilical cord blood transplantation for Philadelphia chromosome-positive acute lymphoblastic leukemia. We report the outcome of 45 patients with Philadelphia chromosome-positive acute lymphoblastic leukemia who underwent myeloablative single unit cord blood transplantation from unrelated donors within the GETH/GITMO cooperative group. Conditioning regimens were based on combinations of thiotepa, busulfan, cyclophospamide or fludarabine, and antithymocyte globulin. At the time of transplantation, 35 patients (78%) were in first complete remission, four (8%) …

MaleTransplantation Conditioning:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies [Medical Subject Headings]Leucemia-linfoma linfoblástico de células precursorasGraft vs Host Disease:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Supervivencia sin EnfermedadGastroenterology:Anatomy::Body Regions::Transplants::Allografts [Medical Subject Headings]:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents::Myeloablative Agonists [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]hemic and lymphatic diseasesMedicineCumulative incidenceTasa de SupervivenciaPhiladelphia ChromosomeChildCromosoma Filadelfia:Diseases::Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [Medical Subject Headings]:Named Groups::Persons::Age Groups::Child::Child Preschool [Medical Subject Headings]ArticlesHematologyMiddle AgedPrecursor Cell Lymphoblastic Leukemia-LymphomaAllografts:Analytical Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Biological Therapy::Immunomodulation::Immunotherapy::Immunosuppression::Transplantation Conditioning [Medical Subject Headings]FludarabineSurvival RateChild Preschool:Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings]:Diseases::Pathological Conditions Signs and Symptoms::Pathologic Processes::Chromosome Aberrations::Translocation Genetic::Philadelphia Chromosome [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Survival Analysis::Disease-Free Survival [Medical Subject Headings]FemaleAcondicionamiento para el trasplanteCord Blood Stem Cell TransplantationTrasplante de células madre de la sangre del cordónmedicine.drugAloinjertosAdultmedicine.medical_specialtyAdolescent:Check Tags::Male [Medical Subject Headings]Cord Blood Stem Cell TransplantationPhiladelphia chromosomeEnfermedad injerto contra huéspedDisease-Free SurvivalEstudios retrospectivosInternal medicine:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Follow-Up Studies [Medical Subject Headings]:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]HumansPreschoolSurvival rate:Named Groups::Persons::Age Groups::Child [Medical Subject Headings]Retrospective Studies:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Mortality::Survival Rate [Medical Subject Headings]business.industryUmbilical Cord Blood TransplantationEnfermedad crónicaAgonistas mieloablativosMyeloablative Agonistsmedicine.diseaseSettore MED/15SurgeryTransplantation:Diseases::Immune System Diseases::Graft vs Host Disease [Medical Subject Headings]:Diseases::Hemic and Lymphatic Diseases::Lymphatic Diseases::Lymphoproliferative Disorders::Leukemia Lymphoid::Precursor Cell Lymphoblastic Leukemia-Lymphoma [Medical Subject Headings]:Check Tags::Female [Medical Subject Headings]Estudios de SeguimientoChronic Disease:Analytical Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures Operative::Transplantation::Cell Transplantation::Stem Cell Transplantation::Cord Blood Stem Cell Transplantation [Medical Subject Headings]Adolescent; Adult; Allografts; Child; Child Preschool; Chronic Disease; Disease-Free Survival; Female; Follow-Up Studies; Graft vs Host Disease; Humans; Male; Middle Aged; Myeloablative Agonists; Retrospective Studies; Survival Rate; Cord Blood Stem Cell Transplantation; Philadelphia Chromosome; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Transplantation ConditioningbusinessBusulfanFollow-Up Studies
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Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.

1999

The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, +8, +8, +del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).

Malecongenital hereditary and neonatal diseases and abnormalitiesCancer Researchmedicine.medical_specialtyPathologyTransplantation HeterologousMice NudeBiologyMyosinsDesminMiceRhabdomyosarcomaGeneticsmedicineAnimalsChromosomes HumanHumansVimentinRhabdomyosarcomaSpindle cell rhabdomyosarcomaChildMolecular BiologyChromosome AberrationsMyoglobinCytogeneticsKaryotypeModal Chromosome NumberAnatomymedicine.diseaseImmunohistochemistryActinsParotid glandParotid Neoplasmsmedicine.anatomical_structureKaryotypingImmunohistochemistrySarcomaNeoplasm TransplantationCancer genetics and cytogenetics
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Two new cases of Thrombocytopenia Absent Radius (TAR) syndrome: Clinical, Genetic and Nosologic Features

1988

Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.

Malecongenital hereditary and neonatal diseases and abnormalitiesPathologymedicine.medical_specialtyEctromeliaAnemiaChromosome DisordersGenes RecessiveRadial aplasiaBiologyConsanguinityBilateral radial aplasiahemic and lymphatic diseasesmedicineClinical geneticHumansAbnormalities MultipleChromosome AberrationsPlatelet CountTAR syndromeInfantSyndromemedicine.diseaseThrombocytopeniaDermatologySevere thrombocytopeniaRadiusPediatrics Perinatology and Child HealthFemaleAbsent radiusLeukemoid reactionKlinische Pädiatrie
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Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes.

1999

Recurrent chromosomal abnormalities present in the malignant cells of children with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) often correlate closely with specific clinical and biologic characteristics of the disease. Certain unique cytogenetic rearrangements are associated with distinct morphologic leukemic subtypes. These rearrangements should be detectable in most children with AML and MDS with the use of complementary molecular techniques such as fluorescence in situ hybridization (FISH), Southern blotting, and polymerase chain reaction. Apart from the diagnostic assessment, cytogenetic findings sometimes predict clinical outcome and thus also serve as prognostic …

Malemedicine.medical_specialtyAdolescentOncogene Proteins FusionDiseasePatient Care PlanningTranslocation GeneticPolyploidyhemic and lymphatic diseasesBiomarkers TumorMedicineChromosomes HumanHumansChildChromosome Aberrationsmedicine.diagnostic_testbusiness.industryMyelodysplastic syndromesChildhood Acute Myeloid LeukemiaCytogeneticsMyeloid leukemiaInfantNeoplasms Second PrimaryHematologyGene rearrangementOncogenesmedicine.diseasePrognosisFusion proteinOncologyLeukemia MyeloidChild PreschoolMyelodysplastic SyndromesPediatrics Perinatology and Child HealthImmunologyAcute DiseaseCancer researchFemaleChromosome DeletionbusinessFluorescence in situ hybridizationJournal of pediatric hematology/oncology
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Corneal Aberrations in Former Preterm Infants: Results From The Wiesbaden Prematurity Study

2017

Purpose To compare corneal aberrations in former preterm infants to that of full-term infants. Methods A prospective cross-sectional study was carried out measuring the corneal shape with Scheimpflug imaging in former preterm infants of gestational age (GA) ≤32 weeks and full-term infants with GA ≥37 weeks now being aged between 4 to 10 years. The main outcome measures were corneal aberrations including astigmatism (Zernike: Z2-2; Z22), coma (Z3-1; Z31), trefoil (Z3-3; Z33), spherical aberration (Z40) and root-mean square of higher-order aberrations (RMS HOA). Multivariable analysis was performed to assess independent associations of gestational age groups and of retinopathy of prematurity …

Malemedicine.medical_specialtyCorneal Wavefront AberrationScheimpflug principleGestational AgeAstigmatism03 medical and health sciences0302 clinical medicineCorneaOphthalmologymedicineHumansRetinopathy of PrematurityProspective StudiesChildProspective cohort studyComabusiness.industryInfant NewbornCase-control studyGestational ageRetinopathy of prematuritymedicine.diseaseeye diseasesCross-Sectional Studiesmedicine.anatomical_structureCase-Control StudiesChild PreschoolMultivariate Analysis030221 ophthalmology & optometryFemalesense organsmedicine.symptombusinessInfant Premature030217 neurology & neurosurgeryInvestigative Opthalmology & Visual Science
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Visual and optical performance with the ReZoom multifocal intraocular lens

2011

Purpose This study evaluated visual acuity, contrast sensitivity, and wavefront aberrations after refractive multifocal intraocular lens (IOL) implantation. Methods A prospective study comprising 174 eyes of 87 patients who had bilateral implantation of a multifocal IOL was carried out. A control group of 100 eyes of 50 age-matched patients with a monofocal IOL was used for comparison. Uncorrected and corrected distance and near visual acuity, contrast sensitivity (CS), and wavefront analysis (Hartmann-Shack) was performed 6 months after surgery. Contrast sensitivity was tested for distance and near under mesopic (2 cd/m2) and photopic conditions (90 cd/m2). Results Distance photopic CS was…

Malemedicine.medical_specialtyCorneal Wavefront AberrationVisual acuityPseudophakiagenetic structuresmedia_common.quotation_subjectVisual AcuityProsthesis DesignRefraction OcularContrast SensitivityLens Implantation IntraocularOphthalmologymedicineHumansContrast (vision)Prospective StudiesAgedmedia_commonAged 80 and overLenses IntraocularWavefrontVision Binocularbusiness.industryAberrometryGeneral MedicineMiddle AgedMultifocal intraocular lenseye diseasesOphthalmologyFemalemedicine.symptombusinessEuropean Journal of Ophthalmology
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Optical quality after instillation of eyedrops in dry-eye syndrome

2010

Purpose To study the effect of eyedrop instillation on the optical quality of the air–tear film interface at the anterior cornea in cases of dry eye. Setting University of Valencia, Valencia, Spain. Methods Corneal aberrations (total, spherical-like, and coma-like) were determined from corneal elevation maps and purpose-designed software in cases of dry eye before, immediately after, and 10 minutes after lubricating eyedrop instillation (Blink Intensive Tears). All data were decomposed using Zernike polynomials to yield the root-mean-square wavefront deviations for pupil diameters of 3.0 mm and 5.5 mm. Outcome measures included comparison with clinical tear breakup time (TBUT). Results Wave…

Malemedicine.medical_specialtyCorneal Wavefront Aberrationgenetic structuresmedicine.medical_treatmentEye diseaseVision DisordersDry Eye SyndromesPupilCorneaCorneaOphthalmologymedicineHumansmedicine.diagnostic_testbusiness.industryAirCorneal TopographyMiddle Agedmedicine.diseaseCorneal topographyeye diseasesSensory SystemsOptical qualityOphthalmologyArtificial tearsmedicine.anatomical_structureTearsTearsDry Eye SyndromesFemaleSurgerysense organsOphthalmic SolutionsbusinessJournal of Cataract and Refractive Surgery
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Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutat…

1994

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.

Malemedicine.medical_specialtyHeterozygoteX ChromosomeMucopolysaccharidosisDNA Mutational AnalysisPrenatal diagnosisIduronate SulfataseGene mutationBiologyPregnancyInternal medicinePrenatal DiagnosismedicineMissense mutationHumansPoint MutationMucopolysaccharidosis type IIGenetics (clinical)AllelesSex Chromosome AberrationsMucopolysaccharidosis IIGeneticsPoint mutationGenetic Carrier ScreeningObstetrics and GynecologyHunter syndromeDNAmedicine.diseaseFetal DiseasesEndocrinologyKaryotypingFemaleKlinefelter syndromePrenatal diagnosis
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