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showing 10 items of 1034 documents

Nephrosis in two siblings with infantile sialic acid storage disease

1990

The diagnosis of infantile sialic acid storage disease (ISSD) was established in two siblings on the basis of typical clinical signs and the biochemical findings of hyperexcretion and intracellular storage of free sialic acid. A severe, steroid resistant nephrosis occurred in both siblings. The activities of lysosomal enzymes, including sialidase, were normal. A combined detection method for sialic acids with Limax flavus agglutinin labelling and phosphotungstic acid staining showed severely alterated sialic acid components in epithelial kidney cells and indicate a causal relationship between the nephrosis and the underlying biochemical defect. Further observations of ISSD patients with ren…

Malemedicine.medical_specialtyNephrosisKidney GlomerulusBiologyCarbohydrate metabolismSialidasechemistry.chemical_compoundInternal medicinemedicineHumansFamilychemistry.chemical_classificationKidneyInfant Newbornmedicine.diseasePhenotypeStainingSialic acidcarbohydrates (lipids)Microscopy Electronmedicine.anatomical_structureEnzymeEndocrinologychemistryBiochemistryPediatrics Perinatology and Child HealthSialic AcidsNephrosisFemaleLysosomesCarbohydrate Metabolism Inborn ErrorsEuropean Journal of Pediatrics
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FACTORS AFFECTING THE DIAGNOSTIC DELAY IN AMYOTROPHIC LATERAL SCLEROSIS

2012

Abstract Background Although amyotrophic lateral sclerosis (ALS) is a relentlessly progressive disorder, early diagnosis allows a prompt start with the specific drug riluzole and an accurate palliative care planning. ALS at onset may however mimic several disorders, some of them treatable ( e.g. , multifocal motor neuropathy) or epidemiologically more frequent ( e.g. , cervical myelopathy). Objective To study the delay from onset to diagnosis in a cohort of ALS patients and to the variables that may affect it. Methods We performed a retrospective analysis of the diagnostic delays in a cohort of 260 patients affected by ALS (M/F = 1.32) followed at our tertiary referral ALS Center between 20…

Malemedicine.medical_specialtyPediatricsDelayed DiagnosisPalliative careALS diagnostic delay cognitive errorsCohort StudiesHumansMedicineAge of OnsetDiagnostic ErrorsAmyotrophic lateral sclerosisAgedRetrospective Studiesbusiness.industryAmyotrophic Lateral SclerosisRetrospective cohort studyGeneral MedicineMiddle Agedmedicine.diseaseMultivariate AnalysisCohortPhysical therapyFemaleSurgerySettore MED/26 - NeurologiaNeurology (clinical)Age of onsetDifferential diagnosisbusinessCohort studyMultifocal motor neuropathy
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Astigmatism in infancy and childhood.

2000

ABSTRACT Purpose: To evaluate the prevalence of astigmatism In infancy and childhood In a Spanish population. Methods: A total of 478 children with astigmatism from Valencia Province, Spain were examined. The patients, ranging in age from 2-1 2 years, were classified into groups according to age. Astigmatism error and axis orientation were determined using noncyclopeglc retlnoscopy over each eye. Results: The overall prevalence of astigmatism (5=1.00 diopter of cylinder) decreased In relation to increasing age from 44.3% to 5.2%. The prevalence of against-the-rule astigmatism decreased from 61.5% (at 2 years) to 33.4% (at 12 years), with-the-rule astigmatism increased In prevalence from 23.…

Malemedicine.medical_specialtyPediatricsRefractive errorEye diseaseAstigmatismVision disorderAge DistributionEpidemiologymedicinePrevalenceHumansSex DistributionChildDioptreRetinoscopymedicine.diagnostic_testbusiness.industryAstigmatismGeneral Medicinemedicine.diseaseOphthalmologyEl NiñoSpainChild PreschoolPediatrics Perinatology and Child HealthOptometryFemalemedicine.symptombusinessJournal of pediatric ophthalmology and strabismus
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Wrist-worn accelerometers in assessment of energy expenditure during intensive training

2012

We assessed the ability of the Polar activity recorder (AR) to measure energy expenditure (EE) during military training. Twenty-four voluntary male conscripts participated in the study and wore an AR on the non-dominant wrist 24 h a day for 7 d. The AR analyzed and stored the frequency of hand movements (f_hand) into memory at 1 min intervals. The relationship between f_hand and EE was studied over a 7 d period of military training using the doubly labeled water (DLW) technique. In addition, the relationship between f_hand and EE was analyzed during walking and running on a treadmill with an indirect calorimeter (IC), and f_hand was measured during a supervised 45 min field march test where…

Malemedicine.medical_specialtyPhysiologyBiomedical EngineeringBiophysicsDoubly labeled waterWalkingWristAccelerometerRunningYoung AdultPhysiology (medical)AccelerometrymedicineHumansTreadmillExercise physiologyExerciseMathematicsReproducibility of ResultsWristPhysical activity levelMilitary Personnelmedicine.anatomical_structureStandard errorEnergy expenditureExercise TestLinear ModelsPhysical therapyEnergy Metabolism
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Relationship among Corneal Biomechanics, Refractive Error, and Axial Length

2014

Purpose To evaluate the relationship between different ocular and corneal biomechanical parameters in emmetropic and ametropic healthy white children. Methods This study included 293 eyes of 293 healthy Spanish children (135 boys and 158 girls), ranging in age from 6 to 17 years. Subjects were divided according to the refractive error: control (emmetropia, 99 children), myopia (100 children), and hyperopia (94 children) groups. In all cases, corneal hysteresis (CH) and corneal resistance factor (CRF) were evaluated with the Ocular Response Analyzer system. Axial length (AL) and mean corneal power were also measured by partial coherence interferometry (IOLMaster), and central corneal thickne…

Malemedicine.medical_specialtyRefractive errorIntraocular pressureocular parametersAdolescentgenetic structuresAnterior ChamberVisual AcuityEmmetropiaCorneachildrenOphthalmologyHumansMedicinerefractive errorChildIntraocular PressureDioptreÓpticabusiness.industryBiomechanicsHigh myopiaAxial lengthElastic TissueRefractive Errorsmedicine.diseaseeye diseasesBiomechanical PhenomenaAxial Length EyeOphthalmologyCross-Sectional Studiesagecorneal biomechanical propertiesRegression AnalysisOptometryFemaleMultiple linear regression analysissense organsbusinessTomography Optical CoherenceOptometryOptometry and Vision Science
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Refractive changes in nuclear, cortical and posterior subcapsular cataracts. Effect of the type and grade

2015

Purpose: To determine the effect of main morphological types and grades of age-related cataracts on refractive error. Methods: We measured 276 subjects with optical compensation prior to the development of cataract. We evaluated 224 eyes with nuclear cataract, 125 with cortical cataract, and 103 with posterior subcapsular (PSC) cataract classified with LOCSIII. We measured visual acuity (VA) with their spectacles and best-corrected visual acuity (BCVA) with chart in decimal scale to obtain the optimal compensation with cataract. We evaluated the differences between compensations. Results: A significant myopic shift was observed in nuclear cataract from low to mild grade (p = 0.031), the sam…

Malemedicine.medical_specialtyRefractive errorNuclear cataractVisual acuitygenetic structuresCortical cataractVisual AcuityCatarataAstigmatismCataractContrast SensitivityCorticallcsh:OphthalmologyCataractsOphthalmologyLens CrystallineOptical compensationMyopiamedicineHumanslcsh:QC350-467Subcapsular posteriorNuclearIn patientCompensación ópticaAgedAged 80 and overAnalysis of Variancebusiness.industryAstigmatismLens Nucleus CrystallineLens Cortex CrystallineMiddle AgedRefractive Errorsmedicine.diseaseeye diseasesSurgeryPosterior subcapsularlcsh:RE1-994FemaleOriginal Articlesense organsPosterior subcapsular cataractmedicine.symptombusinesslcsh:Optics. LightOptometryJournal of Optometry
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Optical and visual performance of diffractive intraocular lens implantation after myopic laser in situ keratomileusis

2008

To evaluate the optical and visual quality in eyes with diffractive intraocular lenses (IOLs) after myopic laser in situ keratomileusis (LASIK).Fernández-Vega Ophthalmological Institute, Oviedo, Spain.The best corrected visual acuity (BCVA [distance]) at 12.5%, 25.0%, and 100% contrasts under photopic and mesopic conditions; best distance-corrected near acuity; corneal total higher-order aberrations (HOAs); and optical quality by modulation transfer function (MTF) were measured after myopic LASIK in eyes with a spherical AcrySof ReSTOR SN60D3 IOL or an aspheric Acri.LISA 366D IOL and phakic eyes (control).Under photopic conditions at 100% contrast, the BCVA was 0.1 logMAR or better in all g…

Malemedicine.medical_specialtyRefractive errorPseudophakiagenetic structuresMesopic visionmedicine.medical_treatmentKeratomileusis Laser In SituVisual AcuityKeratomileusisIntraocular lensProsthesis DesignCataractPupilContrast SensitivityLens Implantation IntraocularOphthalmologyMyopiamedicineHumansProspective StudiesAgedLenses IntraocularPhacoemulsificationbusiness.industryLASIKPhacoemulsificationMiddle Agedmedicine.diseaseeye diseasesSensory SystemsOphthalmologyOptometryFemaleLasers ExcimerSurgerysense organsbusinessPhotopic visionJournal of Cataract and Refractive Surgery
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Visual quality after diffractive intraocular lens implantation in eyes with previous hyperopic laser in situ keratomileusis

2010

To evaluate distance, intermediate, and near visual quality in eyes with diffractive intraocular lens (IOL) implantation after previous hyperopic laser in situ keratomileusis (LASIK).Fernández-Vega Ophthalmological Institute, Oviedo, Spain.Cohort study.Corrected distance visual acuity (CDVA) at 12.5%, 25.0%, and 100% contrast levels under photopic and mesopic conditions; uncorrected (UNVA) and distance-corrected (DCNVA) near visual acuity, defocus curves, and corneal higher-order aberrations (HOAs) were measured in eyes that had AcrySof Restor SN60D3 spherical IOL implantation (study group) and in phakic eyes (control group) after hyperopic LASIK.Under photopic conditions at 100% contrast, …

Malemedicine.medical_specialtyRefractive errorVisual acuitygenetic structuresMesopic visionmedicine.medical_treatmentKeratomileusis Laser In SituMesopic VisionVisual AcuityIntraocular lensKeratomileusisRefraction OcularCohort StudiesLens Implantation IntraocularOphthalmologymedicineHumansProspective StudiesAgedPostoperative CarePhacoemulsificationColor Visionbusiness.industryLASIKPhacoemulsificationMiddle Agedmedicine.diseaseeye diseasesSensory SystemsOphthalmologyHyperopiaOptometryFemaleLasers ExcimerSurgerysense organsmedicine.symptombusinessPhotopic visionJournal of Cataract and Refractive Surgery
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Toric intraocular lens versus opposite clear corneal incisions to correct astigmatism in eyes having cataract surgery.

2009

To compare toric intraocular lens (IOL) implantation with paired opposite clear corneal incisions (OCCIs) for astigmatism correction in patients having cataract surgery.Ophthalmology Service, Donostia Hospital, San Sebastián, Spain.This randomized prospective clinical study comprised eyes with more than 1.00 diopter (D) of preexisting corneal astigmatism. One group had AcrySof toric IOL implantation and the other, paired 2.75 mm/3.20 mm OCCIs in the steep axis with spherical IOL implantation. Uncorrected (UCVA) and best corrected (BCVA) visual acuity, refraction, corneal and total higher-order aberrations (HOAs), photopic and mesopic contrast sensitivity, and toric IOL axis were measured 3 …

Malemedicine.medical_specialtyRefractive errorgenetic structuresmedicine.medical_treatmentVisual AcuityIntraocular lensAstigmatismContrast SensitivityCorneaPostoperative ComplicationsLens Implantation IntraocularOphthalmologymedicineHumansProspective StudiesIntraoperative ComplicationsDioptreAgedLenses IntraocularPhacoemulsificationmedicine.diagnostic_testbusiness.industryAstigmatismCorneal TopographyPhacoemulsificationCataract surgeryCorneal topographymedicine.diseaseeye diseasesSensory SystemsToric lensOphthalmologySurgeryFemalesense organsbusinessJournal of cataract and refractive surgery
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Implantation of a toric poly(methyl methacrylate) intraocular lens to correct high astigmatism

1999

Abstract A 57-year-old man experienced a decrease in visual function because of cataract formation. Corneal astigmatism was 13.4 diopters (D) because he had had a penetrating keratoplasty 27 years before. Cataract surgery was planned, and biometric data for toric intraocular lens (IOL) implantation were collected for the manufacture of a custom IOL. After phacoemulsification, a toric poly(methyl methacrylate) (PMMA) IOL of +19.0 D spherical and +12.0 D cylindrical power was implanted via a sclerocorneal tunnel incision. Three months postoperatively, corneal astigmatism was 14.3 D and best corrected visual acuity (BCVA), 20/25. Postoperative refraction (+1.5 −3.0 × 90) and BCVA remained stab…

Malemedicine.medical_specialtyRefractive errorgenetic structuresmedicine.medical_treatmentVisual AcuityIntraocular lensAstigmatismRefraction OcularCataractCorneaHigh astigmatismLens Implantation IntraocularOphthalmologyHumansPolymethyl MethacrylateMedicineDioptreLenses IntraocularPhacoemulsificationbusiness.industryAstigmatismCorneal TopographyPhacoemulsificationMiddle AgedCataract surgeryequipment and suppliesmedicine.diseaseeye diseasesSensory SystemsSurgeryToric lensOphthalmologySurgerysense organsbusinessJournal of Cataract and Refractive Surgery
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