Search results for "aberraciones"

showing 4 items of 4 documents

Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …

2021

Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…

0301 basic medicineCHSLYSTCase ReportHemophagocytic lymphohistiocytosis030105 genetics & hereditymedicine.disease_causeLoss of heterozygosityExonCh&#233diak-Higashi syndromeImmunology and AllergyMissense mutation:Genetic Phenomena::Genetic Phenomena::Inheritance Patterns::Genes Recessive [PHENOMENA AND PROCESSES]Genetics:fenómenos genéticos::fenómenos genéticos::patrones de herencia::genes recesivos [FENÓMENOS Y PROCESOS]MutationPrimary immunodeficiencySistema inmune - Enfermedades - Diagnóstico.Loss of heterozygosityChédiak-Higashi Síndrome de - Diagnóstico.:enfermedades del sistema inmune::síndromes de inmunodeficiencia::disfunción bactericida del fagocito::síndrome de Chediak-Higashi [ENFERMEDADES]Uniparental disomyImmune system - Diseases - Diagnosis.Chromosome abnormalities.loss of heterozygositySNP array:fenómenos genéticos::variación genética::mutación::aberraciones cromosómicas::disomía uniparental [FENÓMENOS Y PROCESOS]lcsh:Immunologic diseases. AllergyAnomalías y malformaciones cromosómicas.disomia uniparentaluniparental disomy:Immune System Diseases::Immunologic Deficiency Syndromes::Phagocyte Bactericidal Dysfunction::Chediak-Higashi Syndrome [DISEASES]ImmunologyChédiak-Higashi syndromeSingle-nucleotide polymorphismBiologyprimary immunodeficiency03 medical and health sciencesMalalties immunològiquesmedicineGenetic disorders - Diagnosis.Béguez-Chédiak-Higashi syndrome - Diagnosis.Uniparental disomymedicine.diseaseSNP-array030104 developmental biologyAnomalies cromosòmiquesUniparental Isodisomyhemophagocytic lymphohistiocytosisEnfermedades genéticas - Diagnóstico.lcsh:RC581-607:Genetic Phenomena::Genetic Variation::Mutation::Chromosome Aberrations::Uniparental Disomy [PHENOMENA AND PROCESSES]
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WAVEFRONT TESTER: Un nuevo laboratorio virtual para el estudio de los sensores frente de onda.

2016

[EN] We present a new virtual laboratory developed with MatlabcGUI (Graphical User Interface) used toteach di erent aberration eff ects in the "Tecnologi a de Sensores Optoelectr onicos" at "Escuela T ecnicaSuperior de Ingenier a del Diseño" of the Universitat Polit ecnica de Val encia. The objective of this lab is to provide a computer tool to study the working principle of a Shack Hartman sensor and the parameters that determine the dynamic range of the same. Some examples made with di fferent aberrations (defocus,astigmatism, coma) and for diff erent sensor con gurations are presented.

MATLABAberraciones02 engineering and technologyGeneral MedicineGeneral ChemistryWavefront sensors01 natural scienceslcsh:Education (General)aberraciones sensores de frente de onda MATLAB.010309 opticsAberrations020210 optoelectronics & photonics0103 physical sciencesSensores de frente de onda0202 electrical engineering electronic engineering information engineeringlcsh:L7-991Modelling in Science Education and Learning
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Changes of the eye optics after iris constriction☆

2010

Purpose: To evaluate the possible change in the optics of the human eye after iris constriction. Methods: Ocular aberrations were measured under natural viewing conditions in 26 eyes. The measured eyes fixated on a dim target while the contralateral eye was either occluded (so the measured eye had a large pupil) or highly illuminated (so the measured eye had a small pupil). The measured eyes fixated to a dim target placed 0.5 D beyond the subject’s far point. Zernike values obtained in both situations were compared within the same pupil diameter corresponding to the one obtained under the high illumination condition. Results: Significant variation in some aberration coefficients were found …

genetic structuresComputer scienceIrisAberraciones ocularesOcular aberrationsConstrictionOpticslcsh:OphthalmologyAberración esféricamedicinelcsh:QC350-467Spherical aberrationÓptica del ojoIris (anatomy)skin and connective tissue diseasesurogenital systembusiness.industryeye diseasesSpherical aberrationmedicine.anatomical_structurelcsh:RE1-994Eye opticsHuman eyeOriginal Articlesense organsbusinesslcsh:Optics. LightOptometry
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Estudios teóricos y experimentales del efecto de las aberraciones en la profundidad de campo, la refracción y la acomodación ocular

2017

Se presentan cinco estudios relacionados con los efectos que producen las aberraciones oculares monocromáticas en distintos aspectos del funcionamiento del sistema ocular. En el primero se hace uso de un sistema de óptica adaptativa para simular la óptica ocular durante la acomodación en un ojo con la acomodación paralizada y poder así estimar la profundidad de campo del ojo durante la acomodación. Los resultados muestran que dicha profundidad varía poco durante la acomodación, y el sistema visual hace uso de ella para acomodar lo menos posible para estímulos cercanos. En el segundo se realiza un estudio teórico para ver cómo afecta la apodización en el cambio de foco que maximiza la intens…

profundidad de campo:FÍSICA [UNESCO]aberraciones ocularesUNESCO::FÍSICAacomodaciónrefracción
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