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Potential risk genes for primary Sjogren's syndrome from a meta-analysis by linear regression and random forest classification

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Genes & Diseases 2024年第3期11卷 128-131页

作者： Tomas Cerdo teresa Torres Moral Maimonides Biomedical Research Institute of Cordoba(IMIBIC) Reina Sofia University HospitalUniversity of CordobaCordoba 14004Spain Centre for Rheumatology Research Division of MedicineUniversity College LondonLondon W1T 4JFUK Faculty of Computer Sciences Multimedia and TelecommunicationUniversitat Oberta de CatalunyaBarcelona 08018Spain Dermatology Department Melanoma UnitAugust Pi i Sunyer Biomedical Research Institute(IDIBAPS)and Hospital ClinicBarcelona 08036Spain Center for Networked Biomedical Research on Rare Diseases(CIBERER) Carlos II Health InstituteMadrid 28029Spain

Primary Sjogren's syndrome(psS)is one of the most widespread autoimmune diseases with unknown origin,characterized by a lymphocytic infiltrate of the exocrine glands and the production of anti-SSA/Ro and anti-SSB/La antibodies that cause dysfunction and destruction mainly of salivary and lachrymal glands,leading to dry eyes and dry mouth.In the absence of a standardized evidence-based screening tool to decide which patients with dry eye must be referred for study of this pathology.

关键词： Sjogren lymphocytic salivary

Accommodation in human eye models:a comparison between the optical designs of Navarro,Arizona and Liou-Brennan

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International Journal of Ophthalmology(English edition) 2017年第1期10卷 43-50页

作者： Georgios Zoulinakis Jose Juan Esteve-Taboada teresa ferrer-blasco David Madrid-Costa Robert Montés-Mico Department of Optics and Physics Faculty University 46100Spain Optometry and Vision Sciencesof ValenciaBurjassotValencia Interuniversity laboratory for research in Vision and Optometry Mixed group University of ValenciaUniversity of MurciaSpain

AIM： To simulate and compare accommodation in accommodative and non-accommodative human eye models.METHODS： Ray tracing and optical design program was used. Three eye models were designed and studied： the Navarro, the Arizona and the Liou-Brennan. In order to make the Navarro and Liou-Brennan models to accommodate, specific geometric parameters of the models were altered with values that were chosen from the literature. For the Arizona model, its’ mathematical functions for accommodation were used for the same accommodative demands. The simulation included four distances of accommodation for each model： at infinity, 3, 1 and 0.5 m.The results were diffraction images of a “letter F” for graphical comparison, spot diagrams on the retinal field and Modulation Transfer Function （MTF） graphs.RESULTS：Zernike coefficients for the aberrations, Airy disk diameter, root mean square （RMS） error diameter and total axial length of the model were provided from the program. These were compared between them in all distances. The Navarro model had the smallest axial length change as a simple model. The Arizona did not change its axial length because it is designed to be accommodative. The Liou-Brennan model had different results concerning the aberrations because of the decentration of the pupil. The MTF graphs showed small differences between the models because of the differences in their designs.CONCLUSION： All the three models are able to simulate accommodation with the expected results. There is no model that can be assumed as the best choice. Accommodation can be simulated in non-accommodativemodels and in customized ones.

关键词： accommodation design eye model optical

Device interchangeability on anterior chamber depth and white-to-white measurements: a thorough literature review

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International Journal of Ophthalmology(English edition) 2016年第7期9卷 1057-1065页

作者： Alberto Domínguez-Vicent Cari Pérez-Vives teresa ferrer-blasco Santiago García-Lázaro Robert Montés-Micó Optometry Research Group (GIO) Department of Optics and Optometry and Visual Science University of Valencia

We have reviewed a set of recently published studies that compared the anterior chamber depth（ACD） and/or white-to-white（WTW） distance obtained by means of different measuring devices.Since some of those studies reached contradictory conclusions regarding device interchangeability,this review was carried out in attempting to clarify which clinical devices can or cannot be considered as interchangeable in clinical practice to measure ACD and/or WTW distance,among these devices：A-scan,ultrasound biomicroscopy,Orbscan and Orbscan Ⅱ（Bausch＆Lomb Surgical Inc.,San Dimas,California,USA）,Pentacam and Pentacam HR（Oculus,Wetzlar,Germany）,Galilei（Ziemer,Switzerland）,Visante optical coherence tomography（Visante OCT,Carl Zeiss Meditec Inc.,Dublin,California,USA）,lOLMaster（Carl Zeiss Meditec,Jena,Germany）,and Lenstar LS 900/Biograph（Haag-Streit AG,Koeniz,Switzerland/Alcon Laboratories Inc.,Ft Worth,Texas,USA）.

关键词： anterior camber depth measurement white to white measurement device interchangeability anterior chamber eye

Repeatability of in-vitro optical quality measurements of intraocular lenses with a deflectometry technique effect of the toricity

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International Journal of Ophthalmology(English edition) 2018年第7期11卷 1139-1144页

作者： teresa ferrer-blasco Alberto Dominguez-Vicent Santiago Garcia-Lazaro Maria Amparo Diez-Ajenjo Jose F.Alfonso Jose J.Esteve-Taboada Department of Optics and Optometry and Visual Science University of Valencia Valencia 46100 Spain Clinica Optometrica Fundacio Lluis Alcanyis Universitat de Valencia Valencia 46020 Spain Surgery Department Fernandez-Vega Ophthalmological Institute Oviedo 33012 Spain School of Medicine University of Oviedo Oviedo 33006 Spain

AIM： To evaluate the repeatability of an optical device for measuring the Zernike coefficients of toric intraocular lenses（IOLs） and assess whether its toricity has any impact in its repeatability. METHODS： An experienced technician used the NIMO TR1504 to measure the Zernike coefficients 30 times for an aperture of 4.50 mm for all lenses included. The IOLs included were divided into two group： toric and nontoric ones. The cylindrical powers of the toric lenses included in the present study were 1.00, 1.50, 2.25, 3.00 and 3.75 D. Finally, the repeatability of the NIMO TR1504 was described in terms of within subject standard deviation（Sw） and repeatability limit. RESULTS： The Sw was smaller than 0.011 μm for both lens groups and all Zernike coefficients, and the difference between both groups was smaller than 0.004 μm for all Zernike coefficients. Regarding the repeatability limit, this value was smaller than 0.025 μm for the toric lens group, and smaller than 0.031 μm for the non-toric lens one for all Zernike coefficients. Furthermore, the maximum difference between both lens groups was 0.010 μm. CONCLUSION： The repeatability of the NIMO TR1504 to measure the optical quality is high and independent of the lens toricity. These results reflect that this system is robust and could be used to measure the in-vitro optical quality of either toric or non-toric IOLs.

关键词： in-vitro measurements optical quality intraocular lens repeatability

Evaluation of the iridocorneal angle with accommodation using optical coherence tomography

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International Journal of Ophthalmology(English edition) 2017年第10期10卷 1614-1616页

作者： Daniel Monsálvez-Romín Antonio Del águila-Carrasco teresa ferrer-blasco José J.Esteve-Taboada Robert Montés-Micó Optics and Optometry and Vision Sciences Department University of Valencia

The changes in the iridocorneal angle structure during accommodation are assessed by means of anterior segment optical coherence tomography.Thirteen right eyes were included in the study.The device used for the measurement was the Visante？omni system.The stimuli were set up at different vergences（0.0 D,-1.5 D,and-3.0 D）.The angle opening distance 500 and 750,the trabecular iris space area 500 and 750,and the scleral spur angle parameters were assessed at the nasal and temporal regions.The results in the iridotrabecular angle comparing the three accommodative states of the eye did not yield any statistically significant difference at nasal or temporal angle sections.In light of our results and in the conditions of our study,the structures of the iridocorneal angle are not significantly changed with accommodation.

关键词： iridocorneal angle accommodation optical coherence tomography anterior segment

A Comparison between Late Preterm and Term Infants with Respiratory Distress Syndrome, Early-Onset Sepsis, and Neonatal Jaundice in Ecuadorian Newborns

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Open Journal of Pediatrics 2024年第1期14卷 22-35页

作者： teresa Altamirano Molina Colegio Ciencias de la Salud Universidad San Francisco de Quito USFQ calle Diego de Robles s/n y Pampite Quito Ecuador Servicio de Neonatología Hospital General del Sur de Quito calle Moraspungo s/n y Pinllopata Quito Ecuador

Background: To examine the differences in prevalence of respiratory distress syndrome, early-onset sepsis and jaundice, between late preterm infants versus term infants in Ecuadorian newborns. Methods: Study design: Epidemiological, observational, and cross-sectional, with two cohorts of patients. Settings: IESS Quito Sur Hospital at Quito, Ecuador, from February to April of 2020. Participants: This study included 204 newborns, 102 preterm infants, 102 term infants. Results: There are significant differences between late preterm infants and term infants, with a p-value of 0.000 in the prevalence of early sepsis, 70.59% vs. 35.29%. In respiratory distress syndrome between late and term premature infants, significant differences were observed with a p-value of 0.000, the proportion being 55.58% vs. 24.51% respectively. The prevalence of jaundice is higher in term infants with a p value of 0.002, 72.55%, versus 51.96% in late preterm infants, and the mean value of bilirubins in mg/dL was higher in term infants 14.32 versus 12.33 in late preterm infants;this difference is statistically significant with a p value of 0.004. Admission to the NICU is more frequent in late preterm infants with a p-value of 0.000, being 42.16% for late preterm infants vs. 7.84% in term infants;the mean of the hospital days with p-value 0.005, was higher in late preterm infants 4.97 days vs. 3.55 days for term newborns. Conclusion: Due to the conditions of their immaturity, late preterm infants are 2.86 times more likely to present early sepsis than full-term newborns. It is shown that late preterm infants are 2.69 times more likely to have respiratory distress syndrome compared to term infants, therefore, late preterm infants have a longer hospital stay of 4.97 days versus 3.55 days in term infants. Jaundice and mean bilirubin levels are higher in term infants due to blood group incompatibility and insufficient breastfeeding.

关键词： Late Preterm Term Newborn Respiratory Distress Syndrome Early Onset Sepsis Jaundice

Integration of Environmental and Social Values in Cultural Spaces:Sustainable and Inclusive Wayfinding Materials for Museums

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Journal of Civil Engineering and Architecture 2024年第5期18卷 207-217页

作者： Cristiana Cellucci teresa Villani Department of Architecture and Arts IUAV University of VeniceVenice 219630123Italy Department of Planning Designand TechnologyFaculty of ArchitectureSapienza University of RomeRome 00185Italy

In the context of use of large museum centers,numerous national and international methodological experiments show that the wayfinding project must consider the needs of both habitual users(user-centered design)and local communities(design for communities)and the importance of environmental protection(eco-design)as a priority interest of the community.This“double target”,“user-centered”and“environment-centered”can be applied during the selection process of materials to be used in the project.With respect to these possibilities,this contribution intends to present the results of research focused on material characterization of the reception and distribution spaces of large museum centers.This characterization is based on use of sensory materials and aims to evaluate their impact on the usability and sustainability of wayfinding systems.The paper directed towards a proposal for organization of integrated information on new generation so-called smart materials;within the design of a wayfinding system,these can balance the aesthetic-perceptual and performance and environmental impact,in order to allow designers to make informed decisions oriented towards inclusion and sustainability.The study was addressed by conducting two phases of systematic literature and library review of materials.The investigations conducted led to achievement of a first research result which consists in the identification of a“standard sheet”for the mapping and cataloging of the materials used for wayfinding.The“standard sheet”allows organizing the information on smart,sensorial,and eco-friendly materials,balancing the aesthetic-perceptive component with the performance on the environmental impact along the entire life cycle in a circular perspective.This tool could guide designers towards an environmental communication project oriented towards sustainability and is effective for usability and wayfinding.

关键词： Wayfinding eco-friendly materials sensory materials user-centered design eco-design innovative museum

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome

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Genes & Diseases 2024年第2期11卷 524-527页

作者： Noemi Gonzalez-Abuin Tirso Pons teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Department of Immunology and Oncology National Center for BiotechnologySpanish National Research Council (CNB-CSIC)Madrid 28049Spain Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid 28029Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Division of Clinical Cancer Genomics Department of Medical Oncology & Therapeutic ResearchCity of Hope National Cancer CenterDuarteCA 91010USA

Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTEN tumor suppressive function,have been proposed as an alternative mechanism of PTEN inactivation in PTEN-hamartoma-tumor syndrome(PHTS)-like patients with wildtype PTEN.1 More specifically,heterozygous,potentially activating wwP1 variants were first identified by Lee et al in patients affected with gastrointestinal oligopolyposis,including adenomatous,hyperplastic/serrated,and hamartomatous polyps,and occasionally with colorectal cancer(Table 1).Subsequently,based on the PHTS phenotypic features,wWP1 mutational screening was performed in patients with thyroid nodules,2 or normocephalic autism spectrum disorder(ASD),3 where germline WWP1 variants were also identified(Table S1).

关键词： WWP1 gastrointestinal polyposis

Adaptive optics as a tool for controlling the optical signals reaching the retina

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Annals of Eye Science 2017年第1期 331-333页

作者： JoséJ.Esteve-Taboada teresa ferrer-blasco Robert Montés-Micó Department of Optics and Optometry and Vision Sciences University of ValenciaValenciaSpain

The use of adaptive optics systems in ophthalmic research studies has increased in the last years thanks to the development of more accurate devices.Adaptive optics was first introduced in Astronomy for the correction of the effects produced by the turbulences of the Earth’s atmosphere when observing astronomical objects(1,2).Sophisticated deformable mirrors controlled by computers can correct in real time atmospheric disturbances,allowing for much finer details on the images of distance objects.Adaptive optics technology makes it possible to correct many of the aberrations with which the wavefront,i.e.,the geometric envelope of all the rays of light that emerged at the same time of the observed object,arrives.Adaptive optics allows for obtaining sharper images,and thus,with better spatial resolution.

关键词： optics details correction