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INTRODUCTION: Those aged 80 years and over are the fastest-growing sector of the Australian population but are often excluded from research. Oldest old people living alone, in disadvantaged neighbourhoods, and with ill health or dementia, face additional barriers that may hinder their participation in research. METHODS: This paper contributes timely critical commentary on methodological and ethical approaches to engaging under-represented people in research. We draw on our experiences and reflections from a study of social exclusion of people aged 80 years and older living alone in government housing in Melbourne, Australia. RESULTS AND DISCUSSION: We suggest key factors to facilitate representation of this population group in future research. These factors include using doorknocking to gain access, cultivating trust with participants and gatekeepers, and conducting face-to-face home interviews. We also interrogate ethical and safety issues for researchers and oldest old participants including the potential for informed consent protocols to exclude this population group. CONCLUSION: To avoid unintentionally excluding the oldest old, researchers need to consider older persons' self-determination and advocate for methods that ensure oldest old perspectives inform future healthy ageing planning and reduce possible health and well-being inequities.
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Purpose: The purpose of this study was to investigate the association between retinal nerve fiber layer (RNFL) thickness and high-density lipoprotein cholesterol (HDL-C) in a healthy population. Methods: This cross-sectional study included 31,738 UK Biobank participants with high quality optical coherence tomography (OCT) images, excluding those with neurological or ocular diseases. The locally estimated scatterplot smoothing (LOESS) curve and multivariable piecewise linear regression models were applied to assess the association between HDL-C and RNFL thickness, and HDL-C subclasses were further analyzed using nuclear magnetic resonance (NMR) spectroscopy. Results: Multivariate piecewise linear regression revealed that high HDL-C levels (>1.7 mmol/L in women or > 1.5 mmol/L in men) were associated with thinner RNFL thickness (women: ß = -0.13, 95% confidence interval [CI] = -0.23 to -0.02, P = 0.017; male: ß = -0.23, 95% CI = -0.37 to -0.10, P = 0.001). Conversely, a significant positive association between HDL-C and RNFL thickness was observed when HDL-C was between 1.4 and 1.7 mmol/L for female participants (ß = 0.13, 95% CI = 0.02 to 0.24, P = 0.025). NMR analysis showed that these associations are potentially driven by distinct HDL-C subclasses. Conclusions: This study revealed an association between HDL-C levels and retinal markers of neurodegenerative diseases, suggesting that elevated HDL-C may serve as a new risk factor for neurodegenerative conditions. These findings may contribute to the implementation of preventive interventions and improved patient outcomes.
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HDL-Colesterol , Fibras Nervosas , Células Ganglionares da Retina , Tomografia de Coerência Óptica , Humanos , Feminino , Masculino , Estudos Transversais , Tomografia de Coerência Óptica/métodos , Fibras Nervosas/patologia , Pessoa de Meia-Idade , Células Ganglionares da Retina/patologia , Reino Unido/epidemiologia , HDL-Colesterol/sangue , Idoso , Bancos de Espécimes Biológicos , Adulto , Biobanco do Reino UnidoRESUMO
Legionella bacteria can proliferate in poorly maintained water systems, posing risks to users. All Legionella species are potentially pathogenic, but Legionella pneumophila (L. pneumophila) is usually the primary focus of testing. However, Legionella anisa (L. anisa) also colonizes water distribution systems, is frequently found with L. pneumophila, and could be a good indicator for increased risk of nosocomial infection. Anonymized data from three commercial Legionella testing laboratories afforded an analysis of 565,750 water samples. The data covered July 2019 to August 2021, including the COVID-19 pandemic. The results confirmed that L. anisa commonly colonizes water distribution systems, being the most frequently identified non-L. pneumophila species. The proportions of L. anisa and L. pneumophila generally remained similar, but increases in L. pneumophila during COVID-19 lockdown suggest static water supplies might favor its growth. Disinfection of hospital water systems was effective, but re-colonization did occur, appearing to favor L. pneumophila; however, L. anisa colony numbers also increased as a proportion of the total. While L. pneumophila remains the main species of concern as a risk to human health, L. anisa's role should not be underestimated, either as a potential infection risk or as an indicator of the need to intervene to control Legionella's colonization of water supplies.
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Legionella , Microbiologia da Água , Legionella/isolamento & purificação , Humanos , COVID-19/transmissão , COVID-19/epidemiologia , Abastecimento de Água , Legionella pneumophila/isolamento & purificação , SARS-CoV-2RESUMO
OBJECTIVES: To evaluate the frequency and severity of depressive and anxiety symptoms and explore possible risk factors among caregivers of children with congenital ectopia lentis (CEL). DESIGN: A prospective cross-sectional study was conducted. PARTICIPANTS: 108 patients and 108 informal caregivers (mainly parents) were included. Participants were grouped based on whether patients had systemic abnormalities: group 1 were children without systemic abnormalities and group 2 were children with systemic abnormalities. OUTCOME MEASURES: The 9-item Patient Health Questionnaire (PHQ-9) and the 7-item Generalized Anxiety Disorder Scale (GAD-7) were used to assess depressive and anxiety symptoms, respectively. RESULTS: More than half of caregivers (51.9%) have depressive or anxiety symptoms of some degree. 38.0% of caregivers suffered from both depressive and anxiety symptoms. 19.4% of caregivers had moderate to severe depressive symptoms (PHQ-9 score ≥10) while 16.7% reported moderate to severe anxiety symptoms (GAD-7 score ≥10). Between the two groups, the mean PHQ-9 and GAD-7 scores significantly differed (p=0.026 in PHQ-9; p=0.018 in GAD-7). The proportion of caregivers with moderate to severe symptoms was greater in group 2 than in group 1. In addition, there was a significant positive correlation between PHQ-9 and GAD-7 scores (r=0.827; p<0.001). Furthermore, best corrected visual acuity in the better eye of patients was positively correlated with both the PHQ-9 and GAD-7 scores (r=0.314, p<0.05 in PHQ-9; r=0.325, p<0.05 in GAD-7). CONCLUSIONS: Depressive and anxiety symptoms were common in caregivers of children with CEL, especially among those whose children had other systemic disease manifestations or low vision. This study illustrates the importance of depressive and anxiety symptom screening for these caregivers to implement effective psychological interventions and support strategies.
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Ansiedade , Cuidadores , Depressão , Ectopia do Cristalino , Humanos , Estudos Transversais , Feminino , Masculino , Estudos Prospectivos , Cuidadores/psicologia , Ansiedade/etiologia , Ansiedade/epidemiologia , Depressão/etiologia , Depressão/epidemiologia , Criança , Adulto , Ectopia do Cristalino/psicologia , Pré-Escolar , Pessoa de Meia-Idade , Fatores de Risco , Adolescente , Inquéritos e Questionários , Índice de Gravidade de Doença , Escalas de Graduação PsiquiátricaRESUMO
AIMS: This study aims to investigate the associations between commonly used systemic medications and diabetic retinopathy (DR). METHODS: Individuals with linked primary care prescription data from the UK Biobank were included. Cases were defined as individuals with a Hospital Episode Statistics-coded or primary care recorded diagnosis of DR or self-reported DR. Controls were matched for age, sex, glycosylated haemoglobin, duration of diabetes mellitus (DM), hypertension status and cardiovascular disease status. ORs and 95% CIs were calculated using conditional univariate and multivariable logistic regression models. RESULTS: A total of 3377 case subjects with DR were included in the study and matched with 3377 control subjects. In multivariable logistic regression, increased odds of incident DR were observed for exposure to short-acting insulins (OR 1.63; 95% CI 1.22 to 2.18), medium-acting insulins (OR 2.10; 95% CI 1.60 to 2.75), sulfonylureas (OR 1.30; 95% CI 1.16 to 1.46). Instead, the use of fibrates (OR 0.71; 95% CI 0.53 to 0.94) and Cox-2 inhibitors (OR 0.68; 95% CI 0.58 to 0.79) was associated with decreased odds of incident DR. Dose-response relationships were observed for all five drug categories (all p<0.05). CONCLUSIONS: This study comprehensively investigated the associations between systemic medication use and DR and found significant associations between the use of short-acting insulins, medium-acting insulins and sulfonylureas with increased odds of incident DR. In contrast, fibrates and Cox-2 inhibitors were associated with decreased odds of incident DR. These findings may provide valuable insights into DM medication management and serve as a reference for the prevention of DR in patients with DM.
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PURPOSE: To investigate the changing patterns of corneal endothelial cells and the associated factors in children with congenital ectopia lentis (CEL) after scleral-fixated intraocular lens (SF IOL) surgery. SETTING: Zhongshan Ophthalmic Center, Guangzhou, China. DESIGN: Retrospective study. METHODS: Patients were divided into the surgery group and the control group. Central endothelial cell density (ECD), coefficient of variation in cell size, the percentage of hexagonal cells (hexagonality), average cell size (AVG), and central corneal thickness were analyzed for both groups at baseline and each follow-up visit. Clinic characteristic, ocular parameters, IOL decentration, and IOL tilt of patients in the surgery group were collected. Multiple linear regression was performed to assess the potential associated factors for the postoperative changes in corneal endothelial cells in the surgery group. RESULTS: After 2-year follow-up, the decline of ECD was 17.8% (95% CI, -21.8 to -13.9) in the surgery group and -3.1% (95% CI, -5.2 to -1.0) in the control group ( P < .001), while the increase of AVG was 24.3% (17.1-31.6) in the surgery group and 2.7% (1.0 to 4.5) in the control group ( P < .001). Multivariate analysis showed that axial length (AL) ≥24 mm and white-to-white (WTW) <12.2 mm were significantly associated with greater loss of ECD (ß = -241.41, 95% CI, -457.91 to -24.91, P = .030 and ß = 251.63, 95% CI, 42.10-461.17, P = .020, respectively) and AL ≥24 mm was significantly positively associated with the increase of AVG (ß = 34.81, 95% CI, 0.90-68.71, P = .044). CONCLUSIONS: The SF IOL had a significant impact on corneal endothelium in children with CEL. More attention should be paid to monitor postoperative corneal endothelium change during long-term follow-up in CEL children, especially for those with longer AL and smaller WTW.
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Ectopia do Cristalino , Endotélio Corneano , Implante de Lente Intraocular , Esclera , Acuidade Visual , Humanos , Estudos Retrospectivos , Endotélio Corneano/patologia , Ectopia do Cristalino/cirurgia , Seguimentos , Masculino , Esclera/cirurgia , Esclera/patologia , Feminino , Contagem de Células , Criança , Acuidade Visual/fisiologia , Pré-Escolar , Lentes Intraoculares , Técnicas de Sutura , Perda de Células Endoteliais da Córnea/etiologia , Perda de Células Endoteliais da Córnea/diagnósticoRESUMO
PURPOSE: To investigate corneal biomechanical properties and its associations with the severity of lens dislocation in patients with Marfan syndrome. METHODS: A total of 30 patients with Marfan syndrome and 30 age-, sex- and axial length (AL)-matched controls were recruited. Corneal biomechanical parameters of both groups were measured by CorVis ST and were compared between groups. Potential associations between corneal biomechanical parameters and severity of lens dislocation were also investigated. RESULTS: Lower applanation 1 velocity (A1V) (0.13 ± 0.004 vs. 0.15 ± 0.003, P = 0.016), shorter applanation 2 time (A2T)(22.64 ± 0.11 vs. 22.94 ± 0.11, P = 0.013), longer peak distance (PD) (5.03 ± 0.07 vs. 4.81 ± 0.05, P = 0.008), longer radius (R) of highest concavity (7.44 ± 0.16 vs. 6.93 ± 0.14, P = 0.012), greater Ambrosio relational thickness horizontal (ARTh) (603 ± 20 vs. 498 ± 12, P < 0.001), and integrated radius (IR) (8.32 ± 0.25 vs. 8.95 ± 0.21, P = 0.033) were detected among Marfan eyes compared with controls (all P < 0.05). Marfan individuals with more severe lens dislocation tended to have increased stiffness parameter as longer A1T, slower A1V, shorter A2T, slower application 2 velocity (A2V), smaller PD and smaller Distance Amplitude (DA) (P < 0.05). CONCLUSION: Marfan patients were detected to have increased corneal stiffness compared with normal subjects. Corneal biomechanical parameters were significantly associated with the severity of lens dislocation in Marfan patients.
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Subluxação do Cristalino , Síndrome de Marfan , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Pressão Intraocular , Fenômenos Biomecânicos , Córnea , Subluxação do Cristalino/diagnóstico , Subluxação do Cristalino/etiologia , Tonometria OcularRESUMO
Purpose: To derive an effective nomogram for predicting Marfan syndrome (MFS) in children with congenital ectopia lentis (CEL) using regularly collected data. Methods: Diagnostic standards (Ghent nosology) and genetic test were applied in all patients with CEL to determine the presence or absence of MFS. Three potential MFS predictors were tested and chosen to build a prediction model using logistic regression. The predictive performance of the nomogram was validated internally through time-dependent receiver operating characteristic curves, calibration curves, and decision curve analysis. Results: Eyes from 103 patients under 20 years old and with CEL were enrolled in this study. Z score of body mass index (odds ratio [OR] = 0.659; 95% confidence interval [CI], 0.453-0.958), corneal curvature radius (OR = 3.397; 95% CI, 1.829-6.307), and aortic root diameter (OR = 2.342; 95% CI, 1.403-3.911) were identified as predictors of MFS. The combination of the above predictors shows good predictive ability, as indicated by area under the curve of 0.889 (95% CI, 0.826-0.953). The calibration curves showed good agreement between the prediction of the nomogram and the actual observations. In addition, decision curve analysis showed that the nomogram was clinically useful and had better discriminatory power in identifying patients with MFS. For better individual prediction, an online MFS calculator was created. Conclusions: The nomogram provides accurate and individualized prediction of MFS in children with CEL who cannot be identified with the Ghent criteria, enabling clinicians to personalize treatment plans and improve MFS outcomes. Translational Relevance: The prediction model may help clinicians identify MFS in its early stages, which could reduce the likelihood of developing severe symptoms and improve MFS outcomes.
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Ectopia do Cristalino , Síndrome de Marfan , Criança , Humanos , Adulto Jovem , Adulto , Ectopia do Cristalino/diagnóstico , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Nomogramas , OlhoRESUMO
BACKGROUND: Congenital ectopia lentis (CEL) is a hereditary eye disease which severely impacts preschool children's visual function and development. This study aimed to evaluate the longitudinal changes in spherical equivalent (SE) refractive error in preschool children with CEL. METHODS: A retrospective cohort study was conducted at Zhongshan Ophthalmic Center, Guangzhou, China. Medical records of CEL patients under 6-year-old who were diagnosed with Marfan syndrome at the initial visit from January 2014 to March 2022 were collected and were divided into surgery and non-surgery groups. Mean change rate of SE in the two groups was evaluated, and the potential associated factors of SE change rate were investigated by mixed-effect regression model. RESULTS: A total of 94 preschool patients from 14 provinces of China were included. Among the 42 children of the surgery group, the mean age with standard deviation (SD) was 5.02 ± 0.81 years and patients experienced a myopic shift of -0.05 ± 0.09 D/month in average. The mean age with SD of the 52 children of the non-surgery group was 4.34 ± 1.02 years, and the mean myopic shift was -0.09 ± 0.14 D/month. The mixed-effect regression model identified that higher degree of myopia at baseline was associated with slower myopic shift both in surgery (ß = 0.901, 95% CI: 0.822 ~ 0.980, P < 0.001) and in non-surgery group (ß = 1.006, 95% CI: 0.977 ~ 1.034, P < 0.001) in CEL patients. Surgical treatment (ß = 2.635, 95% CI: 1.376 ~ 3.894, P < 0.001) was associated with slower myopic shift in all participants CEL patients. CONCLUSIONS: Myopic progression was slower in the surgery group than in the non-surgery group of CEL. Preschool CEL patients who met the surgical indication are suggested being performed with timely surgery to slow down the myopic progression.
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Ectopia do Cristalino , Miopia , Erros de Refração , Humanos , Pré-Escolar , Criança , Refração Ocular , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/cirurgia , Estudos Retrospectivos , Erros de Refração/diagnóstico , Miopia/diagnósticoRESUMO
PURPOSE: To evaluate the postoperative longitudinal refractive changes in children younger than 8 years with ectopia lentis and Marfan syndrome (MFS). SETTING: Zhongshan ophthalmic center, Guangzhou, China. DESIGN: Retrospective cohort study. METHODS: Medical data of patients diagnosed with ectopia lentis and MFS that underwent surgery younger than 8 years were collected. Refractive errors and ocular biometric parameters were collected preoperatively and at each follow-up visit. Patients were stratified into groups according to age at surgery, and only the eye operated on first was selected. Multivariate analysis was performed to determine the association between refractive shift and potential risk factors. RESULTS: In total, 54 eyes of 54 patients were enrolled. The median age at surgery was 6.21 years (interquartile range [IQR], 5.25 to 6.85), and the median follow-up was 2.0 years (IQR, 1.2 to 2.8 years). At age 8 years, patients demonstrated a median myopic shift ranged from -1.75 diopters (D) (IQR, -2.75 to -1.00 D) for the 4-year-old group to -0.13 D (IQR, -0.50 to -0.06 D) for the 7-year-old group. Multivariate analysis showed that greater myopic shift was associated with younger age at surgery ( P = .004), male sex ( P = .026), and shorter preoperative axis length ( P = .005). CONCLUSIONS: A tendency toward increasing postoperative myopic was demonstrated in children with ectopia lentis and MFS, with the greatest myopic shift in the younger age groups. If the goal is to reach emmetropia by age 8 years, the immediate postoperative hypermetropic targets should be 1.75 D for age 4 years, 1 D for age 5 years, 0.5 D for age 6 years, and 0 to 0.25 D for age 7 years.
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Ectopia do Cristalino , Síndrome de Marfan , Miopia , Criança , Humanos , Masculino , Pré-Escolar , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/cirurgia , Ectopia do Cristalino/complicações , Síndrome de Marfan/complicações , Estudos Retrospectivos , Acuidade Visual , Refração Ocular , Miopia/cirurgia , Miopia/complicaçõesRESUMO
PURPOSE: To systematically review the literature and quantitatively synthesize the currently available evidence to compare the accuracy of different intraocular lens calculation formulas in eyes with long axial length (AL). DESIGN: Network meta-analysis. METHODS: PubMed, Embase, Web of Science, and the Cochrane Library were systematically searched for studies published between January 2000 and June 2022. Included were prospective or retrospective clinical studies reporting the following outcomes in cataract patients with long AL (ie, ≥26 mm): percentage of eyes with a prediction error (PE) within ±0.25, ±0.50, and ±1.00 diopters (D). Network meta-analysis was conducted using R software (version 4.2.1). RESULTS: Ten prospective or retrospective clinical studies, including 1016 eyes and 11 calculation formulas, were identified. A traditional meta-analysis showed that for the percentage of eyes with PE within ±0.25 and ±0.50 D, the Olsen, Kane, and Emmetropia Verifying Optical (EVO) all had insignificantly higher percentages compared with others. Considering the percentage of eyes with PE within ±1.00 D, the original and modified Wang-Koch adjustment formulas for Holladay 1 (H1-WK and H1-MWK) and EVO formulas showed superiority, but the difference was insignificant. This network meta-analysis revealed that compared with the widely used Barrett Universal II (BUII) formula, the Olsen, Kane, and EVO formulas had higher percentages of eyes with PE within ±0.25, ±0.50, and ±1.00 D (all odds ratios >1 but P >.05). Based on the surface under the cumulative ranking area (SUCRA) values for the percentage of eyes with PE within ±0.25 D, the Olsen (96.4%), Kane (77.5%), and EVO (75.9%) formulas had the highest probability of being in the top 3 of the 11 formulas. CONCLUSIONS: The Olsen, Kane, and EVO formulas may perform better than others in calculating IOL power in eyes with long AL. Nevertheless, there is still considerable uncertainty in this regard and the accuracy of these formulas in highly myopic eyes should be confirmed in studies based on large multicenter registries.
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Lentes Intraoculares , Facoemulsificação , Humanos , Metanálise em Rede , Estudos Prospectivos , Estudos Retrospectivos , Olho , Biometria , Óptica e Fotônica , Refração Ocular , Comprimento Axial do Olho , Estudos Multicêntricos como AssuntoRESUMO
BACKGROUND: Although the most durable method for ventral hernia repairs involves using mesh, whether to use biologic mesh versus synthetic mesh remains controversial. This study aimed to compare synthetic and biologic meshes with respect to patient-reported quality of life scores and costs after ventral hernia repair surgeries. METHODS: This study is part of the Preventing Recurrence in Clean and Contaminated Hernias (PRICE) pragmatic randomized control trial conducted from March 2014 through October 2018. Patients were randomized 1:1 to undergo ventral hernia repair using either a biologic or synthetic mesh. The coprimary outcomes were 2-year changes in Visual Analog Scale, Activities Assessment Scale, Hernia-Related Quality-of-Life Survey, and Short-Form 36 Health Survey (SF-36) quality-of-life scores from repair. The secondary outcome was the overall cost per patient. RESULTS: Among the 165 patients included in the study, 82 were randomized to biologic meshes and 83 to synthetic meshes. There were no significant differences in the performance between the 2 mesh types with regard to quality-of-life measures using a mixed model approach. This result was consistent even when performing subgroup analysis based on wound contamination. However, nonparametric tests comparing the differences in quality-of-life measures from preoperative to 24-month postoperative timepoints revealed that the synthetic mesh group showed a greater reduction in disability than biologic mesh for the SF-36 (median [interquartile range] of 20 [5-30] vs 6 [1-20], P = .025). This difference was due to reductions in the physical role limitations (62 [0-100] vs 0 [0-50], P = .018) and the pain (38 [12-50] vs 12 [0-25], P = .012) domains of the SF-36. Overall cost per patient was greater for biologic meshes (mean [95% confidence interval] of $80,420 [$66,485-$94,355] vs $61,036 [$48,946-$73,125], P = .038), regardless of insurance type. CONCLUSION: In this randomized clinical trial, there were no differences in changes in quality-of-life scores at the 2-year timepoint except for the SF-36, where the synthetic mesh may be associated with less pain and physical role limitations than the biologic mesh. Overall costs per patient were less for synthetic than biologic mesh.
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Produtos Biológicos , Hérnia Ventral , Humanos , Qualidade de Vida , Telas Cirúrgicas , Resultado do Tratamento , Recidiva Local de Neoplasia/cirurgia , Hérnia Ventral/prevenção & controle , Hérnia Ventral/cirurgia , Herniorrafia/efeitos adversos , Herniorrafia/métodos , Custos e Análise de Custo , Dor/cirurgia , Recidiva , Estudos RetrospectivosRESUMO
OBJECTIVES: This study aims to evaluate the effect of congenital ectopia lentis (CEL) on functional vision and eye-related quality of life (ER-QOL) in children and their families using the Paediatric Eye Questionnaire (PedEyeQ). DESIGN: A questionnaire survey administered via in-person interviews of patients with CEL and their parents. PARTICIPANTS: 51 children with CEL and 53 visually normal controls accompanied by 1 parent completed the survey questionnaires for the study from March 2022 to September 2022. OUTCOME MEASURES: PedEyeQ domain scores. Functional vision and ER-QOL of children and their families were evaluated by calculating and comparing the Rasch domain scores of the PedEyeQ. RESULTS: PedEyeQ domain scores were significantly worse with CEL compared with controls (p<0.01 for each), with the exception of the Proxy Social domain among children aged 0-4 years (p=0.283). Child PedEyeQ greatest differences were in the functional vision domain (5-11 years, -20 points (95% CI -27 to -12)) and frustration/worry domain (12-17 years, -41 (95% CI -37 to -6)). Proxy PedEyeQ greatest differences were in the functional vision domain (0-4 years, -34 (95% CI -45 to -22)) and frustration/worry domain (5-11 years, -27 (95% CI -39 to -14); 12-17 years, -37(95% CI (-48 to -26))). Parent PedEyeQ greatest difference was in the 'worry about child's eye condition' (-57 (95% CI (-63 to -51))). CONCLUSIONS: In this study, children with CEL had reduced functional vision and ER-QOL compared with controls. Parents of children with CEL also experience reduced quality of life.
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Ectopia do Cristalino , Baixa Visão , Humanos , Criança , Qualidade de Vida , Estudos Transversais , Ectopia do Cristalino/genética , Acuidade Visual , Estudos Prospectivos , Inquéritos e QuestionáriosRESUMO
Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects. This study aims to investigate the characteristics and genotype-phenotype correlations of WMS with ADAMTS17 mutations. WMS patients with ADAMTS17 variants were identified by whole-exome sequencing from 185 patients with EL. All the included patients underwent comprehensive ocular and systemic examinations. ADAMTS17 variants were reviewed from included patients, published literature, and public databases. Bioinformatics analysis, co-segregation analysis, species sequence analysis, and protein silico modeling were used to verify the pathogenic mutations. A total of six novel ADAMTS17 mutations (c.1297C > T, c.2948C > T, c.1322+2T > C, c.1716C > G, c.1630G > A, and c.1669C > T) were identified in four WMS probands in our EL cohort (4/185, 2.16%). All probands and their biological parents presented with apparent short stature compared with the standard value. In particular, one child was detected with valvular heart disease, which has not previously been reported in patients with ADAMTS17 mutations. Conserved residues were greatly affected by the substitution of amino acids caused by these six mutations. Short stature could be considered a clue for EL patients with ADAMTS17 mutations, and much more attention needs to be paid to heart disorders among these patients. This study not only reported the characteristics of ADAMTS17 mutation-related WMS but also helped to recognize the genotype-phenotype correlations in these patients.
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Ectopia do Cristalino , Glaucoma , Síndrome de Weill-Marchesani , Humanos , Síndrome de Weill-Marchesani/genética , Mutação , Ectopia do Cristalino/genética , Estudos de Associação Genética , Proteínas ADAMTS/genética , Proteínas de Ligação a TGF-beta Latente/genéticaRESUMO
Background: Biologic mesh has been used increasingly in complex ventral hernia repair despite limited evidence at low risk of bias supporting its use. Patients and Methods: We performed a participant-level analysis of published randomized controlled trials (RCTs) comparing biologic to synthetic mesh with complex ventral hernia repair at 24 to 36 months. Primary outcome was major complication (composite of mesh infection, recurrence, reoperation, or death) at 24 to 36 months post-operative. Secondary outcomes included length of index hospital stay, surgical site occurrence, surgical site infection, and death. Outcomes were assessed using both frequentist and Bayesian generalized linear regression models. Results: A total of 252 patients from two RCTs were included, 126 patients randomized to the intervention arm of biologic and 126 patients to the control of synthetic mesh with median follow-up of 29 (23, 38) months. Major complication occurred in 33 (33%) patients randomized to biologic, and 39 (38%) patients randomized to synthetic mesh, (relative risk [RR] 0.91, 95% confidence interval [CI] 0.63-1.31; p value = 0.600). Bayesian analysis demonstrated that compared with synthetic mesh, biologic mesh had similar probability of major complications at 24 to 36 months post-operative. The remainder of outcomes demonstrated slight benefit with synthetic mesh as opposed to biologic mesh except for mesh infection. However, under a frequentist framework, no outcome was statistically different. Conclusions: In patients undergoing open ventral hernia repair, there was no benefit for patients receiving biologic versus synthetic mesh at 24 to 36 months post-operative.
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Produtos Biológicos , Hérnia Ventral , Humanos , Telas Cirúrgicas/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Hérnia Ventral/cirurgia , Infecção da Ferida Cirúrgica/etiologia , Herniorrafia/efeitos adversos , Resultado do Tratamento , Recidiva , Estudos RetrospectivosRESUMO
INTRODUCTION: Congenital ectopia lentis (CEL) is a rare ocular disease characterised by the dislocation or displacement of the lens. Patients with mild lens dislocations can be treated with conservative methods (eg, corrective eyeglasses or contact lenses). In contrast, patients with severe CEL usually require surgical management. However, few studies have focused on the visual prognosis and complications in conservative and surgical management of patients. This study aims to investigate the prognosis and complications in patients with CEL with conservative and surgical management, which is vital for CEL management, especially the choice of surgical timing and surgical method. METHODS AND ANALYSIS: A cohort study will be conducted at Zhongshan Ophthalmic Center. We plan to recruit 604 participants diagnosed with CEL and aged ≥3 years old. Patients with mild lens subluxation and stable visual conditions will be included in the non-surgical group and follow-up at 1, 2 and 3 years after enrolment. Patients with severe lens subluxation who accept CEL surgery will be included in the surgical group. Different surgical techniques, including phacoemulsification, in-the-bag intraocular lens implantation (with or without capsular tension ring) and trans-scleral fixation, will be used depending on the severity of dislocation. Patients will be followed up at 3 months, and 1, 2 and 3 years postoperatively. Over a 5-year follow-up period, patients will receive a detailed ocular examination, including optometry, biological measurement, specular microscopy, ultrasound biomicroscopy, anterior segment and posterior segment optical coherence tomography (OCT), OCT angiography, echocardiography and questionnaires on vision-related quality of life. The primary outcome is the change of best-corrected visual acuity and the incidence of complications in both groups. ETHICS AND DISSEMINATION: Ethics approval was obtained from the ethics committee of the Zhongshan Ophthalmic Center (number: 2022KYPJ207). Study findings will be published in a peer-reviewed journal. TRIAL REGISTRATION NUMBER: NCT05654025.
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Ectopia do Cristalino , Subluxação do Cristalino , Pré-Escolar , Humanos , Estudos de Coortes , Ectopia do Cristalino/complicações , Ectopia do Cristalino/cirurgia , Subluxação do Cristalino/etiologia , Subluxação do Cristalino/cirurgia , Complicações Pós-Operatórias/epidemiologia , Prognóstico , Qualidade de Vida , Acuidade VisualRESUMO
There is higher prevalence of epilepsy and SUDEP in people with intellectual disability (PwID) compared to general population. Accurate seizure recording particularly at night can be challenging in PwID. Neuro Event Labs seizure monitoring (Nelli) uses high-quality video based artificial intelligence to detect and record possible nocturnal seizures. This study looks to evaluate the clinical utility and acceptability of Nelli in PwID and epilepsy. Family/carers of PwID and drug resistant epilepsy with suspicions of nocturnal seizures who had not tolerated routine or ambulatory EEGs were invited to evaluate Nelli. Relevant demographics and clinical characteristics were collected. Nelli's impact, it's facilitators, barriers and feedback quality was captured from patient and professional stakeholders. Quantitative and thematic analysis was undertaken. Fifteen PwID and epilepsy and four health professionals were involved. Nelli recorded 707 possible seizure events across the study cohort of which 247 were not heard or recognised by carers. Carers recorded 165 episodes of 'restless' or "seizure behaviour" which the Nelli did not deem to be seizures. There was 93% acceptability. Thematic analysis revealed three broad themes of device acceptability, result implementation and possible seizure recognition ability. Nelli allowed for improved communication and care planning in a hitherto difficult to investigate population.
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Background: To investigate the safety and effectiveness of a modified transscleral suture through ex vivo tests. Methods: Ex vivo tests were performed in full-thickness porcine scleral pieces using modified knotless transscleral zigzag-shaped suture (Z-suture) fixation technology. The minimum traction force required to loosen or rupture the suture was assessed. The effects of different polypropylene sutures (10-0, 8-0), different suture spans (2.0, 3.0, 4.0 mm), different passes (3, 4, 5 passes), and scleral grooves were investigated. Results: The average minimum traction forces required to loosen 10-0 polypropylene sutured for 3.0 mm with a suture span of 3, 4, and 5 passes, were 0.18 (0.15-0.18), 0.22 (0.21-0.22), and 0.37 (0.37-0.37) N, respectively. The maximum traction force to prevent the suture from rupturing for the 10-0 polypropylene suture was 0.37-0.41 N in the sclera. The average of the minimum traction forces required to loosen the 8-0 polypropylene sutured with 5 passes and spanning 2.0, 3.0, and 4.0 mm were 0.37 (0.3 -0.39), 0.42 (0.42-0.45), and 0.50 (0.50-0.51) N, respectively, which were 14-28% higher than that of the 10-0 polypropylene suture under same conditions (all P values <0.01). In addition, there was no statistical difference (P=0.3258) for the 8-0 polypropylene suture used with a 3.0-mm suture span and 5 passes between conditions with or without scleral grooves. Conclusions: The minimum traction force required to loosen or rupture the suture in the sclera was associated with suture specification, suture span, and the number of passes, but was uncorrelated with double scleral grooves. The 8-0 polypropylene suture with double scleral grooves may be a more favorable choice for knotless transscleral fixation.
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Objectives: This study aimed to estimate the disease burden of cataract and evaluate the contributions of risk factors to cataract-associated disability-adjusted life years (DALYs). Materials and methods: Prevalence and DALYs of visual impairment due to cataract were extracted from the Global Burden of Disease (GBD) study 2019 to explore time trends and annual changes. Regional and country-level socioeconomic indexes were obtained from open databases. The time trend of prevalence and DALYs was demonstrated. Stepwise multiple linear regression was used to evaluate associations between the age-standardized rate of DALYs of cataract and potential predictors. Results: Global Prevalence rate of visual impairment due to cataract rose by 58.45% to 1,253.9 per 100,000 population (95% CI: 1,103.3 to 1,417.7 per 100,000 population) in 2019 and the DALYs rate rose by 32.18% from 65.3 per 100,000 population (95% CI: 46.4 to 88.2 per 100,000 population) in 1990 to 86.3 per 100,000 population (95% CI: 61.5 to 116.4 per 100,000 population) in 2019. Stepwise multiple linear regression model showed that higher refractive error prevalence (ß = 0.036, 95% CI: 0.022, 0.050, P < 0.001), lower number of physicians per 10,000 population (ß = -0.959, 95% CI: -1.685, -0.233, P = 0.010), and lower level of HDI (ß = -134.93, 95% CI: -209.84, -60.02, P = 0.001) were associated with a higher disease burden of cataract. Conclusion: Substantial increases in the prevalence of visual impairment and DALYs of cataract were observed from 1990 to 2019. Successful global initiatives targeting improving cataract surgical rate and quality, especially in regions with lower socioeconomic status, is a prerequisite to combating this growing burden of cataract in the aging society.
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Catarata , Saúde Global , Humanos , Anos de Vida Ajustados por Qualidade de Vida , Efeitos Psicossociais da Doença , Catarata/epidemiologia , Transtornos da Visão/epidemiologia , Transtornos da Visão/etiologiaRESUMO
PURPOSE: To introduce a method of predicting effective lens position (ELP) among congenital ectopia lentis (CEL) patients undergoing transscleral fixation of intraocular lens (IOL), and evaluate its effect on improving refractive outcome by utilizing the Sanders-Retzlaff-Kraff / theoretical (SRK/T) formula. DESIGN: Retrospective cross-sectional study. METHODS: A training set (93 eyes) and validation set (25 eyes) was included. Z value as the distance between the iris plane and a hypothetic postoperative IOL position was introduced in this study. The Z-modified ELP consisted of corneal height (Ch) and Z (ELP = Ch + Z), and Ch was calculated by keratometry (Km) and white-to-white (WTW). The value of Z was identified by linear regression formula with the involvement of axial length (AL), Km, WTW, age, and gender. The comparison of mean (MAE) and mediate absolute error (MedAE) among Z-modified SRK/T formula, SRK/T, Holladay I, and Hoffer Q formula was performed to evaluate the performance of Z-modified SRK/T formula. RESULTS: Z value was associated with AL, K, WTW, and age (Z = offset + 15.1093 × lg (AL) + 0.0953899 × Km - 0.3910268 × WTW + 0.0164197 × Age - 19.34804). The Z-modified ELP has good accuracy with no difference to back-calculated ELP. The accuracy of Z-modified SRK/T formula was better than other formulas (P < .001) as the MAE was 0.24 ± 0.19 diopter (D) and MedAE was 0.22 D (95% CI: 0.01-0.57 D). Sixty-four percent of eyes had a refractive error smaller than ±0.25 D, and none of the subjects had a prediction error greater than ±0.75 D. CONCLUSIONS: ELP of CEL can be accurately predicted by AL, Km, WTW, and age. Z-modified SRK/T formula improved on the current formula by improving predicting accuracy of ELP and may serve as a promising formula for CEL patients with transscleral fixation of IOL.