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1.
BMC Geriatr ; 22(1): 711, 2022 08 27.
Artículo en Inglés | MEDLINE | ID: mdl-36030213

RESUMEN

BACKGROUND: This study evaluated the real-world effectiveness and potential cost-effectiveness of a community-based vision care programme for the elderly population aged 60 years or above. METHODS: Data from a total of 8899 subjects participating in a community-based comprehensive vision care programme from 2015 to 2019 were analysed to evaluate the effectiveness of the programme in terms of the prevalence of distance visual impairment (VI), the change in the prevalence of distance VI after refractive error correction, and the types of ocular disorders suspected. Distance VI was defined as a) visual acuity (VA) worse than 6/18 in any eye (worse eye) and b) VA worse than 6/18 in the better eye. The cost-effectiveness from the funder's perspective was also estimated in terms of cost per distance VI avoided. RESULTS: Based on the presenting vision of the worse eye, the prevalence of distance VI was 39.1% (3482/8899, 95% CI: 38.1%-40.1%) and reduced to 13.8% (1227/8899, 95% CI: 13.1%-14.5%) based on best-corrected VA. Referenced to the presenting vision of the better eye, the prevalence of distance VI was 17.3% (1539/8899, 95% CI: 16.5%-18.1%) and decreased to 4.2% (373/8899, 95% CI: 3.8%-4.6%) with best optical correction. Uncorrected refractive error was the major cause of presenting distance VI. From the funder's perspective, the cost per distance VI case prevented was HK$1921 based on VA in the worse eye and HK$3715 based on the better eye. CONCLUSION: This community-based programme identified distance VI in the best eye of 17 out of every 100 subjects. With appropriate new or updated distance optical corrections, distance VI was reduced to about 4 in 100 subjects. Visual impairment in the elderly is common even in a relatively affluent city. A model of care which could minimise avoidable distance VI would bring benefits at individual and societal levels.


Asunto(s)
Errores de Refracción , Baja Visión , Anciano , Estudios Transversales , Humanos , Prevalencia , Trastornos de la Visión , Agudeza Visual
2.
Health Expect ; 24(4): 1242-1253, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33949749

RESUMEN

BACKGROUND: Financial incentive is increasingly used as a mean to promote preventive care utilization (PCU), but the current Elderly Health Care Voucher Scheme (EHCVS) in Hong Kong is ineffective for encouraging PCU. OBJECTIVE: To explore the older people's barriers to PCU and their views on financial incentive, including EHCVS, for improving private PCU. DESIGN AND SETTING: Focus-group discussions were conducted in community elderly centres located in five districts of Hong Kong. PARTICIPANTS: Community-dwelling older people aged 60 years or above. RESULTS: Lack of understanding about preventive care and low awareness of the need for preventive care were key factors for the low motivation for PCU. Uncertainty over the level of service fee charged and concerns over service quality hindered the choice of using the private service providers under the current EHCVS. Financial incentives specific for preventive care services were thought to be cues to actions and guides for service promotion. However, some flexibility in service coverage and a set time limit of the financial incentives were preferred to accommodate individual needs. CONCLUSIONS: Apart from promoting knowledge of preventive care, official monitoring for service fee and quality is important for empowering older people to choose private service providers for preventive care. Financial incentives for preventive care services should be more specific to cue service promotion and uptake of preventive care while maintaining flexibility to accommodate individual needs. PATIENT OR PUBLIC CONTRIBUTION: Participants were recruited using purposive sampling with the coordination of community elderly centres. Data were analysed using thematic coding.


Asunto(s)
Vida Independiente , Motivación , Anciano , Grupos Focales , Hong Kong , Humanos
3.
J Cell Mol Med ; 24(7): 4341-4349, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32119762

RESUMEN

SARI (Suppressor of AP-1, regulated by IFN-ß) is known to play an important role in some systemic disease processes such an inflammatory conditions and cancer. We hypothesize that SARI may also play a role in ocular diseases involving inflammation and neovascularization. To explore our hypothesis, further, we investigated an endotoxin-induced uveitis (EIU) and experimental argon laser-induced choroidal neovascularization (CNV) model in SARI wild-type (SARIWT ) and SARI-deficient (SARI-/- ) mice. Through imaging, morphological and immunohistochemical (IHC) studies, we found that SARI deficiency exacerbated the growth of CNV. More VEGF-positive cells were presented in the retina of SARI-/- mice with CNV. Compared to SARIWT  mice, more inflammatory cells infiltrated the ocular anterior segment and posterior segments in SARI-/- mice with EIU. Collectively, the results point to a potential dual functional role of SARI in inflammatory ocular diseases, suggesting that SARI could be a potential therapy target for ocular inflammation and neovascularization.


Asunto(s)
Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/genética , Neovascularización Coroidal/genética , Inflamación/genética , Retina/metabolismo , Uveítis/genética , Animales , Neovascularización Coroidal/patología , Citocinas/genética , Modelos Animales de Enfermedad , Endotoxinas/toxicidad , Humanos , Inflamación/inducido químicamente , Inflamación/patología , Láseres de Gas/efectos adversos , Ratones , Ratones Noqueados , Retina/patología , Retina/efectos de la radiación , Uveítis/inducido químicamente , Uveítis/patología , Factor A de Crecimiento Endotelial Vascular/genética
4.
Biochim Biophys Acta Gen Subj ; 1861(2): 335-353, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27888147

RESUMEN

BACKGROUND: Genome-wide association studies (GWAS) is a major method for studying the genetics of complex diseases. Finding all sequence variants to explain fully the aetiology of a disease is difficult because of their small effect sizes. To better explain disease mechanisms, pathway analysis is used to consolidate the effects of multiple variants, and hence increase the power of the study. While pathway analysis has previously been performed within GWAS only, it can now be extended to examining rare variants, other "-omics" and interaction data. SCOPE OF REVIEW: 1. Factors to consider in the choice of software for GWAS pathway analysis. 2. Examples of how pathway analysis is used to analyse rare variants, other "-omics" and interaction data. MAJOR CONCLUSIONS: To choose appropriate software tools, factors for consideration include covariate compatibility, null hypothesis, one- or two-step analysis required, curation method of gene sets, size of pathways, and size of flanking regions to define gene boundaries. For rare variants, analysis performance depends on consistency between assumed and actual effect distribution of variants. Integration of other "-omics" data and interaction can better explain gene functions. GENERAL SIGNIFICANCE: Pathway analysis methods will be more readily used for integration of multiple sources of data, and enable more accurate prediction of phenotypes.


Asunto(s)
Polimorfismo de Nucleótido Simple/genética , Transducción de Señal/genética , Estudio de Asociación del Genoma Completo/métodos , Humanos , Programas Informáticos
5.
Hum Genet ; 134(2): 131-46, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25367360

RESUMEN

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.


Asunto(s)
Astigmatismo/genética , Moléculas de Adhesión Celular Neuronal/genética , Estudio de Asociación del Genoma Completo , Proteínas del Grupo de Alta Movilidad/genética , Proteínas del Tejido Nervioso/genética , Adulto , Factores de Edad , Pueblo Asiatico , Astigmatismo/patología , Proteínas de Unión al Calcio , Estudios de Cohortes , Femenino , Marcadores Genéticos , Humanos , Masculino , Persona de Mediana Edad , Moléculas de Adhesión de Célula Nerviosa , Población Blanca
6.
J Glob Health ; 14: 04183, 2024 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-39302055

RESUMEN

Background: Myopia is a common eye condition and projected to affect half of the global population by 2050. Controlling its progression during childhood may prevent associated ocular diseases in later life. Certain interventions retard myopia progression but their long-term costs and consequences are not well understood. We evaluated the cost-effectiveness of myopia control via an optical approach using the Defocus Incorporated Multiple Segments (DIMS) lens over a lifetime. Methods: We constructed an individual-based, state-transition model to simulate 1) the development and progression of myopia in childhood with and without control and 2) the impact of myopia on the development of four sight-threatening complications in adulthood. We compared strategies of myopia control with 100% uptake vs. no myopia control from the societal perspective to determine whether myopia control is value for money. Results: With myopia control, the cumulative prevalence of high myopia was relatively reduced by 44.7% (5.9 vs. 10.7%) and severe visual impairment by 19.2% (2.2 vs. 2.7%) compared to no myopia control. The lifetime cost per quality-adjusted life year gained was 26 407 US dollars (USD) and is considered cost-effective compared to the threshold recommended by the World Health Organization (WHO) of one times annual per capita gross domestic product (48 359 USD). Probabilistic sensitivity analysis showed that myopia control had an 87% likelihood of being cost-effective at the WHO threshold. Conclusions: Myopia control is cost-effective when provided to all eligible children. Further investigation is required to determine if it is cost-effective for the government to subsidise myopia control in order to maximise access.


Asunto(s)
Análisis Costo-Beneficio , Miopía , Humanos , Miopía/prevención & control , Miopía/economía , Miopía/epidemiología , Niño , Adolescente , Femenino , Masculino , Años de Vida Ajustados por Calidad de Vida , Adulto , Preescolar
7.
Ophthalmology ; 120(6): 1247-53, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23583166

RESUMEN

OBJECTIVE: To examine whether the inverse care law operates in a screening program for diabetic retinopathy (DR) based on fee for service in Hong Kong. DESIGN: Randomized controlled trial. PARTICIPANTS: All those with type 1 or 2 diabetes from 2 clinics were recruited. INTERVENTION: Diabetic retinopathy screening with a small copayment versus free access in a publicly funded family medicine service. MAIN OUTCOME MEASURES: Uptake of screening and severity of DR detected. Association between these outcome variables and independent variables were determined using multivariate logistic regression models and reported as odds ratios (ORs). RESULTS: After randomization, 1387 subjects in the free group and 1379 subjects in the pay group were eligible for screening, and 94.9% (1316/1387) and 92.6% (1277/1379), respectively, agreed to participate in the study. The offer of screening was accepted by 94.8% (1247/1316) in the free group and 91.2% (1164/1277) in the pay group, and the final uptake ratios were 88.5% (1165/1316) and 82.4% (1052/1277), respectively (Pearson chi = 19.74, P<0.001). Being in the pay group was associated with a lower uptake of screening than being in the free group (OR, 0.59; confidence interval [CI], 0.47-0.74) and a lower detection rate of DR (OR, 0.73; CI, 0.60-0.90) after adjustment for potential confounding factors. Subjects with higher socioeconomic status were more likely to attend screening and had a lower prevalence of DR detected. CONCLUSIONS: The inverse care law seems to operate in a preventive intervention when a relatively small copayment is applied. There is a case for making effective preventive services free of charge. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.


Asunto(s)
Deducibles y Coseguros , Retinopatía Diabética/diagnóstico , Tamizaje Masivo , Atención no Remunerada , Glucemia/metabolismo , Presión Sanguínea , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Femenino , Hemoglobina Glucada/metabolismo , Accesibilidad a los Servicios de Salud , Hospitales Públicos , Humanos , Masculino , Persona de Mediana Edad , Aceptación de la Atención de Salud , Médicos de Familia , Servicios Preventivos de Salud , Índice de Severidad de la Enfermedad , Clase Social , Agudeza Visual/fisiología
8.
Ophthalmic Physiol Opt ; 33(6): 652-60, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23808574

RESUMEN

PURPOSE: To determine the prevalence and risk factors of myopia-related retinal changes in Hong Kong Chinese adolescents with high myopia. METHODS: A cross-sectional study on Hong Kong Chinese teenage subjects with high myopia was conducted between January 2005 and June 2009. Subjects were recruited via newspaper advertisements, invitation letters to schools, leaflets and posters. Data collected included history related to myopia progression and retinal characteristics. RESULTS: In total, 120 subjects (61 boys and 59 girls) were recruited. The mean age was 14.8 ± 1.6 years (range: 12-18 years). The mean SER of the eyes was -8.41 ± 1.60 D. Ninety four of the 120 adolescents were found to have a retinal change of which 0.8% were sight-threatening, 2.5% were posterior pole changes, and 61.7% were peripheral retinal changes. The five most frequent retinal changes found were optic nerve crescents (52.5%), white-without-pressure (51.7%), lattice degeneration (5.8%), microcystoid degeneration (5%) and pigmentary degeneration (4.2%). After adjusting for myopia over -8 D, age, gender, duration of myopia, family retinal history and intraocular pressure (IOP), binary logistic regressions showed that an axial length longer than 26.5 mm was a significant risk factor for peripheral retinal changes, optic nerve crescents and white-without-pressure. CONCLUSIONS: Peripheral retinal degenerative changes and optic nerve crescent were found in a significant proportion of high myopic teenage subjects. There is increased risk of retinal changes in eyes with an axial length >26.5 mm in 12-18 year-olds.


Asunto(s)
Miopía/complicaciones , Enfermedades de la Retina/epidemiología , Adolescente , Niño , Estudios Transversales , Femenino , Hong Kong/epidemiología , Humanos , Modelos Logísticos , Masculino , Miopía/epidemiología , Prevalencia , Enfermedades de la Retina/etiología , Factores de Riesgo
9.
Ophthalmic Physiol Opt ; 33(1): 15-25, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23199050

RESUMEN

PURPOSE: To examine the symmetry of corneal changes following near work in the fellow eyes of non-amblyopic myopic anisometropes. METHODS: Thirty-four non-amblyopic, myopic anisometropes (minimum 1 D spherical equivalent anisometropia) had corneal topography measured before and after a controlled near work task. Subjects were positioned in a headrest to minimise head movements and read continuous text on a computer monitor for 10 min at an angle of 25 degrees downward gaze and an accommodation demand of 2.5 D. Measures of the morphology of the palpebral aperture during primary and downward gaze were also obtained. RESULTS: The more and less myopic eyes exhibited a high degree of interocular symmetry for measures of palpebral aperture morphology during both primary and downward gaze. Following the near work task, fellow eyes also displayed a symmetrical change in superior corneal topography (hyperopic defocus) which correlated with the position of the upper eyelid during downward gaze. Greater changes in the spherical corneal power vector (M) following reading were associated with a narrower palpebral aperture during downward gaze (p = 0.07 for more myopic and p = 0.03 for less myopic eyes). A significantly greater change in J0 (an increase in against the rule astigmatism) was observed in the more myopic eyes (-0.04 ± 0.04 D) compared to the less myopic eyes (-0.02 ± 0.06 D) over a 6 mm corneal diameter (p = 0.01). CONCLUSIONS: Changes in corneal topography following near work are highly symmetrical between the fellow eyes of myopic anisometropes due to the interocular symmetry of the palpebral aperture. However, the more myopic eye exhibits changes in corneal astigmatism of greater magnitude compared to the less myopic eye.


Asunto(s)
Anisometropía/fisiopatología , Miopía/fisiopatología , Lectura , Adulto , Astigmatismo/fisiopatología , Estudios de Cohortes , Topografía de la Córnea , Predominio Ocular/fisiología , Femenino , Humanos , Masculino , Refracción Ocular/fisiología , Adulto Joven
10.
Ophthalmic Physiol Opt ; 33(3): 346-53, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23406521

RESUMEN

PURPOSE: Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. We explored if NYX mutations could be associated with high myopia, but not CSNB1A. METHODS: The coding regions of the NYX gene were sequenced for 204 Chinese males with high myopia (-8.00 dioptres or worse for both eyes). The frequencies of any sequence variations identified were determined in 200 Chinese males without myopia. Electro-oculography, electroretinography and standard cone function tests were performed on a male high myope carrying a mutation. RESULTS: A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiological tests, the proband was found to have normal rod function, but mildly abnormal cone function and inner retina function. He did not seem to suffer from CSNB1A. CONCLUSIONS: One novel missense NYX mutation was identified in an adult male presented with high myopia, but without the major electrophysiological features normally associated with CSNB1A. NYX gene mutations may be considered as one of the rare genetic risk factors for high myopia without key features of CSNB1A.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Mutación Missense/genética , Miopía/genética , Proteoglicanos/genética , Pueblo Asiatico/genética , China , Emetropía/genética , Exones , Humanos , Masculino , Persona de Mediana Edad , Ceguera Nocturna/genética , Análisis de Secuencia de ADN
11.
Clin Exp Optom ; 106(8): 905-910, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36062754

RESUMEN

CLINICAL RELEVANCE: Understanding the impact of a health care voucher scheme and service access barriers could facilitate optometry service promotion to the older population. BACKGROUND: A voucher is one strategy to improve the utilisation of the different health care services available in the private sector. This study aims to explore how a health care voucher system for older people impacts utilisation of optometry services from the perspective of service users and service providers. METHODS: People aged 65 years or above were recruited to fill in a structured questionnaire studying the usage characteristics and access barriers of optometry services and the health care voucher. Views from the optometrists about the voucher scheme were collected by questionnaire. RESULTS: A total of 1156 valid questionnaires from eligible voucher users was collected. Results showed that 53.7% (621/1156) of participants had used optometry services within the past 2 years. Lack of familiarity with services provided, professional fees, and prices of spectacles were the main barriers to using optometry services. Of those participants who had used the voucher for optometry services previously, 80.4% (284/353) had an eye examination in the past 2 years. Among 389 optometrists who participated in the study, over 80% agreed that the voucher scheme improved awareness of major eye conditions and access to prescription spectacles when necessary. CONCLUSION: The health care voucher for older people improved access to optometry services. Access could be further improved by increasing price transparency of professional services and prescription spectacles. Responses from optometry service providers supported the view that the voucher scheme improved access to, and utilisation of, preventive care services.


Asunto(s)
Oftalmopatías , Optometristas , Optometría , Humanos , Anciano , Atención a la Salud , Encuestas y Cuestionarios , Accesibilidad a los Servicios de Salud
12.
Clin Exp Optom ; : 1-7, 2023 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-37557167

RESUMEN

CLINICAL RELEVANCE: The decision to have a routine eye examination involves individual- and service-level judgement. A deeper understanding of patient access barriers and expectations could facilitate the design of better-aligned service models in optometric practice, improving the utilisation rate of an important facet of primary healthcare services. BACKGROUND: Routine eye examinations achieve several health objectives, including mitigation of sight-threatening risk factors. However, there are barriers to service uptake. Through the qualitative approach, a deeper understanding of these barriers can be realised and enhanced strategies designed to improve the uptake of the routine eye examination. A qualitative study was conducted to identify the factors influencing the decision-making process of older adults to use the routine eye examination service. METHODS: This study was guided by the grounded theory approach. Participants were purposively recruited from six community elderly centres. Semi-structured interviews were conducted with 25 community-dwelling adults aged 65 years or above in Hong Kong. Data were transcribed and constant comparison techniques were used for data analysis. RESULTS: Difficulty in prioritising and including the routine eye examination in the existing health service utilisation was the central theme associated with its lower use. Four sub-themes were identified to explain this phenomenon: (1) previous health care service utilisation as a reference for judging primary eye care; (2) low perceived primary eye care service needs; (3) low perceived self-efficacy on routine eye care utilisation; (4) service expectations. CONCLUSION: Multiple modifiable factors influence decision-making by older adults, suggesting that their routine eye care seeking behaviour might be altered through behaviour change intervention. The context in which services are delivered requires further study, with a focus on exploring the factors influencing service experience and its subsequent impact on regular eye care seeking behaviour.

13.
Front Neurosci ; 17: 1109735, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36743805

RESUMEN

The decline of visual plasticity restricts the recovery of visual functions in adult amblyopia. Repetitive transcranial magnetic stimulation (rTMS) has been shown to be effective in treating adult amblyopia. However, the underlying mechanisms of rTMS on visual cortex plasticity remain unclear. In this study, we found that low-frequency rTMS reinstated the amplitude of visual evoked potentials, but did not influence the impaired depth perception of amblyopic rats. Furthermore, the expression of synaptic plasticity genes and the number of dendritic spines were significantly higher in amblyopic rats which received rTMS when compared with amblyopic rats which received sham stimulation, with reduced level of inhibition and perineuronal nets in visual cortex, as observed via molecular and histological investigations. The results provide further evidence that rTMS enhances functional recovery and visual plasticity in an adult amblyopic animal model.

14.
BMC Med Genet ; 13: 64, 2012 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-22857148

RESUMEN

BACKGROUND: The UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese. METHODS: Two groups of unrelated Han Chinese from Hong Kong were recruited using the same criteria: Sample Set 1 comprising 356 controls (spherical equivalent, SE, within ±1 diopter or D) and 356 cases (SE ≤ -8D), and Sample Set 2 comprising 394 controls and 526 cases. Fifty-nine tag single nucleotide polymorphisms (SNPs) were selected and genotyped for Sample Set 1. Four SNPs were followed up with Sample Set 2. Both single-marker and haplotype analyses were performed with cases defined by different SE thresholds. Secondary phenotypes were also analyzed for association with genotypes. RESULTS: Data filtering left 57 SNPs for analysis. Single-marker analysis did not reveal any significant differences between cases and controls in the initial study. However, haplotype GCT for markers rs220168-rs220170-rs11911271 showed marginal significance (empirical P = 0.076; SE ≤ -12D for cases), but could not be replicated in the follow-up study. In contrast, non-synonymous SNP rs3819142 was associated with high myopia (SE ≤ -10D) in the follow-up study, but could not be confirmed using Sample Set 1. The SNP rs2839471, positive in the original Japanese study, gave negative results in all our analyses. Exploratory analysis of secondary phenotypes indicated that allele C of rs220120 was associated with anterior chamber depth (adjusted P = 0.0460). CONCLUSIONS: Common UMODL1 polymorphisms were unlikely to be important in the genetic susceptibility to high myopia in Han Chinese.


Asunto(s)
Pueblo Asiatico/genética , Proteínas de Unión al Calcio/genética , Proteínas de la Membrana/genética , Miopía/genética , Polimorfismo Genético , Adolescente , Adulto , Pueblo Asiatico/estadística & datos numéricos , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética/estadística & datos numéricos , Predisposición Genética a la Enfermedad , Haplotipos , Hong Kong/epidemiología , Humanos , Desequilibrio de Ligamiento , Masculino , Miopía/epidemiología , Polimorfismo de Nucleótido Simple , Prevalencia , Índice de Severidad de la Enfermedad , Adulto Joven
15.
BMC Genet ; 13: 1, 2012 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-22252406

RESUMEN

BACKGROUND: Despite being a well-established strategy for cost reduction in disease gene mapping, pooled DNA association study is much less popular than the individual DNA approach. This situation is especially true for pooled DNA genomewide association study (GWAS), for which very few computer resources have been developed for its data analysis. This motivates the development of UPDG (Utilities package for data analysis of Pooled DNA GWAS). RESULTS: UPDG represents a generalized framework for data analysis of pooled DNA GWAS with the integration of Unix/Linux shell operations, Perl programs and R scripts. With the input of raw intensity data from GWAS, UPDG performs the following tasks in a stepwise manner: raw data manipulation, correction for allelic preferential amplification, normalization, nested analysis of variance for genetic association testing, and summarization of analysis results. Detailed instructions, procedures and commands are provided in the comprehensive user manual describing the whole process from preliminary preparation of software installation to final outcome acquisition. An example dataset (input files and sample output files) is also included in the package so that users can easily familiarize themselves with the data file formats, working procedures and expected output. Therefore, UPDG is especially useful for users with some computer knowledge, but without a sophisticated programming background. CONCLUSIONS: UPDG provides a free, simple and platform-independent one-stop service to scientists working on pooled DNA GWAS data analysis, but with less advanced programming knowledge. It is our vision and mission to reduce the hindrance for performing data analysis of pooled DNA GWAS through our contribution of UPDG. More importantly, we hope to promote the popularity of pooled DNA GWAS, which is a very useful research strategy.


Asunto(s)
Estudio de Asociación del Genoma Completo , Programas Informáticos , Estadística como Asunto/métodos , Humanos , Interfaz Usuario-Computador
16.
Mol Vis ; 17: 810-21, 2011 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-21527992

RESUMEN

PURPOSE: We examined the relationship between high myopia and common polymorphisms in four candidate genes: collagen, type XI, alpha 1 (COL11A1); collagen, type XVIII, alpha 1 (COL18A1); fibrillin 1 (FBN1); and procollagen-lysine 1,2-oxoglutarate 5-dioxygenase 1 (PLOD1). These genes were selected because rare pathogenic mutations in these genes cause disease syndromes that have myopia, usually high myopia, as one of the common presenting features. METHODS: This study recruited 600 unrelated Han Chinese subjects including 300 cases with high myopia (spherical equivalent or SE≤-8.00 diopters) and 300 controls (SE within ±1.00 diopter). A total of 66 tag single nucleotide polymorphisms (SNPs) were selected for study from these four candidate genes. The study adopted a DNA pooling strategy with an initial screen of DNA pools to identify putatively positive SNPs and then confirmed the "positive" SNPs by genotyping individual samples forming the original DNA pools. DNA pools were each constructed by mixing equal amounts of DNA from 50 individuals with the same phenotype status. Six case pools were prepared from 300 cases and six control pools from 300 controls. Allele frequencies of DNA pools were estimated by analyzing the primer-extended products with denaturing high performance liquid chromatography and compared between case pools and control pools with nested ANOVA. RESULTS: In the first stage, 60 SNPs from the 4 candidate genes were successfully screened using the DNA pooling approach. Of these, 6 SNPs showed a statistical significant difference in estimated allele frequencies between case pools and controls at p<0.10. In the second stage, these "positive" SNPs were followed up by individual genotyping, but failed to be confirmed via standard single-marker and haplotype analyses. CONCLUSIONS: Common polymorphisms in these four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.


Asunto(s)
Colágeno Tipo XI/genética , Colágeno Tipo XVIII/genética , Proteínas de Microfilamentos/genética , Miopía/genética , Procolágeno-Lisina 2-Oxoglutarato 5-Dioxigenasa/genética , Análisis de Secuencia de ADN/métodos , Adolescente , Adulto , Análisis de Varianza , Pueblo Asiatico/genética , Estudios de Casos y Controles , Colágeno Tipo XI/metabolismo , Colágeno Tipo XVIII/metabolismo , ADN/análisis , Dermatoglifia del ADN , Femenino , Fibrilina-1 , Fibrilinas , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Masculino , Proteínas de Microfilamentos/metabolismo , Persona de Mediana Edad , Miopía/patología , Fenotipo , Polimorfismo de Nucleótido Simple , Procolágeno-Lisina 2-Oxoglutarato 5-Dioxigenasa/metabolismo
18.
Optom Vis Sci ; 88(12): 1454-62, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21964662

RESUMEN

PURPOSE: To investigate the interocular symmetry of optical, biometric, and biomechanical characteristics between the fellow eyes of myopic anisometropes. METHODS: Thirty-four young, healthy myopic anisometropic adults (≥ 1 D spherical equivalent difference between eyes) without amblyopia or strabismus were recruited. A range of biometric and optical parameters were measured in both eyes of each subject including axial length, ocular aberrations, intraocular pressure, corneal topography, and biomechanics. Ocular sighting dominance was also measured. RESULTS: Mean absolute spherical equivalent anisometropia was 1.70 ± 0.74 D, and there was a strong correlation between the degree of anisometropia and the interocular difference in axial length (r = 0.81, p < 0.001). The more and less myopic eyes displayed a high degree of interocular symmetry for the majority of biometric, biomechanical, and optical parameters measured. When the level of anisometropia exceeded 1.75 D, the more myopic eye was more likely to be the dominant sighting eye than for lower levels of anisometropia (p = 0.002). Subjects with greater levels of anisometropia (>1.75 D) also showed high levels of correlation between the dominant and non-dominant eyes in their biometric, biomechanical, and optical characteristics. CONCLUSIONS: Although significantly different in axial length, anisometropic eyes display a high degree of interocular symmetry for a range of anterior eye biometrics and optical parameters. For higher levels of anisometropia, the more myopic eye tends to be the dominant sighting eye.


Asunto(s)
Anisometropía/complicaciones , Córnea/patología , Predominio Ocular/fisiología , Miopía/complicaciones , Adolescente , Adulto , Anisometropía/diagnóstico , Anisometropía/fisiopatología , Fenómenos Biomecánicos , Córnea/fisiopatología , Topografía de la Córnea , Femenino , Estudios de Seguimiento , Humanos , Presión Intraocular , Masculino , Miopía/diagnóstico , Miopía/fisiopatología , Refracción Ocular , Agudeza Visual , Adulto Joven
19.
Acta Ophthalmol ; 99(7): e1027-e1040, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33665973

RESUMEN

PURPOSE: To evaluate the influence of 2.2 mm clear corneal incision (CCI) features in surgically induced astigmatism (SIA) and higher-order aberrations (HOAs) after cataract surgery. METHODS: Right eyes of 92 subjects receiving 2.2 mm incision cataract surgery were involved. A total of 38 eyes were categorized as the intact incision group, and 54 eyes were the defective incision group. Pre- and postoperative (1 month and 6 months) corneal astigmatism and HOAs on anterior and posterior corneal surfaces, corneal volume, and corneal thickness (CT) were measured using Pentacam. The CCI features including incision length (IL), incision angles, distance from incision to central cornea (Dis-En/Ex), and CT at incision site were quantified using AS-OCT. RESULTS: The defective incision group showed shorter IL and larger incision angles [false discovery rate (FDR) - p < 0.05]. Changes in CT at incision site were more pronounced for the defective incision group (FDR - p < 0.05). Some SIA parameters were related to the certain specific CCI features, especially IL (FDR - p < 0.05). Both groups exhibited significant increased 6 mm posterior corneal tHOAs at 1 month (Bonferroni corrected - p < 0.01) and the defective incision group showed increased 6 mm posterior tHOAs at 6 months (Bonferroni corrected - p = 0.023). There were characteristic correlations between Zernike terms and CCI features including IL, CT, Dis-En/Ex, and incision angles at 1 month, especially over 6 mm zone. CONCLUSION: The CCI deformities can affect corneal recovery and induce more HOAs at 1 month postoperatively. Such effects became minor, but could persist until 6 months. The IL combined with Angle-En/Ex was important factor influencing CCI integrity and corneal optical quality.


Asunto(s)
Astigmatismo/etiología , Extracción de Catarata/efectos adversos , Córnea/diagnóstico por imagen , Topografía de la Córnea/métodos , Complicaciones Posoperatorias/epidemiología , Refracción Ocular/fisiología , Agudeza Visual , Anciano , Astigmatismo/epidemiología , Astigmatismo/fisiopatología , China/epidemiología , Córnea/cirugía , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos
20.
Ophthalmic Physiol Opt ; 30(6): 776-84, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21205263

RESUMEN

PURPOSE: To investigate the retinal thickness profile in myopic and non-myopic eyes. METHODS: The retinal thickness profile of 30 myopic eyes [spherical equivalent error (SER) between -6.00 and -13.63 D] and 31 non-myopic eyes (SER between +2.75 and -0.50 D) were measured using the Stratus OCT (Carl Zeiss Meditec, Dublin, CA, USA). Two scan types were used: the Macular Thickness Map and the Customized Line Scan for a central 80° horizontal retinal thickness profile. RESULTS: At foveal center and fovea, myopic eyes had a thicker retina than the non-myopic group (p = 0.002 and 0.044, respectively). At other zones of the macula, the retina was significantly thinner in myopic eyes compared to non-myopic eyes (p < 0.01, unpaired t-test). From 40° nasal to 40° temporal retina, a general reduction of retinal thickness was observed across the myopic retina compared to the non-myopic retina except at 20° nasal to fixation. CONCLUSIONS: There was general reduction in retinal thickness within the horizontal central 80° in myopic eyes compared with non-myopic eyes.


Asunto(s)
Miopía/patología , Retina/patología , Adolescente , Adulto , Estudios de Casos y Controles , Ojo/patología , Femenino , Humanos , Mácula Lútea/patología , Masculino , Tomografía de Coherencia Óptica/métodos , Adulto Joven
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