Neighborhood Poverty and Clinic Attendance in the Michigan Screening and Intervention for Glaucoma and Eye Health through Telemedicine Program.

PRECIS: Higher neighborhood-level poverty is associated with greater odds of missing a free eye disease screening appointment, underscoring the importance of community-based interventions to address upstream social determinants of health. PURPOSE: To investigate the association between neighborhood-level characteristics and attendance for a free eye disease screening. PATIENTS AND METHODS: The MI-SIGHT program is conducted in two community clinics in Southeastern Michigan. Participant-level demographics were extracted from electronic health records. Neighborhood level-characteristics including Area Deprivation Index (ADI), median household income (HHI), percent of households with >30% rent burden, percent of households without vehicles, percent of households in subsidized housing, and energy burden were obtained from the Wisconsin Neighborhood Atlas and the United States census. Logistic regression was used to model the probability of clinic visit attendance, which was the main outcome measure. RESULTS: 1431 participants were scheduled for screening appointments between July 2020 to November 2021, with a no-show rate of 23%. Individuals lived an average of 7.7 miles from each clinic (SD=8.1) and in neighborhoods with a mean ADI of 6.8 (SD=3.2, 1-10 scale where 10 is the most deprived). After adjusting for age, sex, race, and ethnicity, participants from neighborhoods with higher deprivation were more likely to have missed clinic visits. For example, there was an 8% higher odds of missed clinic visits for every 1-point increase in ADI (odds ratio, OR=1.08, P=0.020) and an 18% higher odds of a missed visit with every 10% increase in households without a vehicle (OR=1.18, P=0.013). CONCLUSION: Higher neighborhood-level poverty was associated with greater odds of missing a free eye disease screening appointment after adjusting for individual characteristics. Increased neighborhood-level resources are likely needed to bolster engagement in preventive eye care.

Place-Based Measures of Inequity and Vision Difficulty and Blindness.

Importance: Known social risk factors associated with poor visual and systemic health in the US include segregation, income inequality, and persistent poverty. Objective: To investigate the association of vision difficulty, including blindness, in neighborhoods with measures of inequity (Theil H index, Gini index, and persistent poverty). Design, Setting, and Participants: This cross-sectional study used data from the 2012-2016 American Community Survey and 2010 US census tracts as well as Theil H index, Gini index, and persistent poverty measures from PolicyMap. Data analysis was completed in July 2023. Main Outcomes and Measures: The main outcome was the number of census tract residents reporting vision difficulty and blindness (VDB) and the association with the Theil H index, Gini index, or persistent poverty, assessed using logistic regression. Results: In total, 73 198 census tracts were analyzed. For every 0.1-unit increase in Theil H index and Gini index, there was an increased odds of VDB after controlling for census tract-level median age, the percentage of the population that identified as female sex, the percentage of the population that identified as a member of a racial or ethnic minority group, state, and population size (Theil H index: odds ratio [OR], 1.14 [95% CI, 1.14-1.14; P < .001]; Gini index: OR, 1.15 [95% CI, 1.15-1.15; P < .001]). Persistent poverty was associated with an increased odds of VDB after controlling for census tract-level median age, the percentage of the population that identified as female sex, the percentage of the population that identified as a member of a racial or ethnic minority group, state, and population size compared with nonpersistent poverty (OR, 1.36; 95% CI, 1.35-1.36; P < .001). Conclusions and Relevance: In this cross-sectional study, residential measures of inequity through segregation, income inequality, or persistent poverty were associated with a greater number of residents living with VDB. It is essential to understand and address how neighborhood characteristics can impact rates of VDB.

Eye Care in Federally Qualified Health Centers.

PURPOSE: To assess changes in vision care availability at Federally Qualified Health Centers (FQHCs) between 2017 and 2021 and whether neighborhood-level demographic social risk factors (SRFs) associated with eye care services provided by FQHCs. DESIGN: Secondary data analysis of the Health Resources and Services Administration (HRSA) data and 2017-2021 American Community Survey (ACS). PARTICIPANTS: Federally Qualified Health Centers. METHODS: Patient and neighborhood characteristics for SRFs were summarized. Differences in FQHCs providing and not providing vision care were compared via Wilcoxon-Mann-Whitney tests for continuous measures and chi-square tests for categorical measures. Logistic regression models were used to test the associations between neighborhood measures and FQHCs providing vision care, adjusted for patient characteristics. MAIN OUTCOME MEASURES: Odds ratios (ORs) with 95% confidence intervals (CIs) for neighborhood-level predictors of FQHCs providing vision care services. RESULTS: Overall, 28.5% of FQHCs (n = 375/1318) provided vision care in 2017 versus 32% (n = 435/1362) in 2021 with some increases and decreases in both the number of FQHCs and those with and without vision services. Only 2.6% of people who accessed FQHC services received eye care in 2021. Among the 435 FQHCs that provided vision care in 2021, 27.1% (n = 118) had added vision services between 2017 and 2021, 71.5% (n = 311) had been offering vision services since at least 2017, and 1.4% (n = 6) were newly established. FQHCs providing vision care in 2021 were more likely to be in neighborhoods with a higher percentage of Hispanic/Latino individuals (OR, 1.08, 95% CI, 1.02-1.14, P = 0.0094), Medicaid-insured individuals (OR, 1.08, 95% CI, 1.02-1.14, P = 0.0120), and no car households (OR, 1.07, 95% CI, 1.01-1.13, P = 0.0142). However, FQHCs with vision care, compared to FQHCs without vision care, served a lower percentage of Hispanic/Latino individuals (27.2% vs. 33.9%, P = 0.0007), Medicaid-insured patients (42.8% vs. 46.8%, P < 0.0001), and patients living at or below 100% of the federal poverty line (61.3% vs. 66.3%, P < 0.0001). CONCLUSIONS: Vision care services are available at a few FQHCs, localized to a few states. Expanding eye care access at FQHCs would meet patients where they seek care to mitigate vision loss to underserved communities. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Factors Associated With Laboratory Test Negativity Following a Transition in Specimen Collection in Microbial Keratitis Cases.

PURPOSE: Negative laboratory results make targeting microbial keratitis treatment difficult. We investigated factors associated with laboratory negativity in patients with microbial keratitis in the context of a transition to a new specimen collection method. METHODS: Microbial keratitis patients with associated laboratory tests were identified in the electronic health record of a tertiary care facility from August 2012 to April 2022. Patient demographics and laboratory results were obtained. Random sampling of 50% of charts was performed to assess the impact of the ocular history and pretreatment measures. The relationship between probability of negative laboratory results with demographics, ocular history, pretreatment measures, and utilization of a new specimen collection method (i.e. ESwab) was evaluated by multivariable logistic regression. RESULTS: Of 3395 microbial keratitis patients identified, 31% (n = 1051) had laboratory tests. Laboratory testing increased over time (slope = 2.5% per year, p < 0.001; 19.6% in 2013 to 42.2% in 2021). Laboratory negative rate increased over time (slope = 2.2% per year, p = 0.022; 48.5% in 2013 to 62.3% in 2021). Almost one-third of patients (31.2%, n = 164) were pretreated with steroids. Over two-thirds of patients were pretreated with antibiotics (69.5%, n = 367). 56.5% (n = 297) of patients were outside referrals. In multivariable regression, patients with corticosteroid pretreatment had lower odds of negative laboratory results (odds ratio [OR] = 0.49, p = 0.001). There were higher odds of negative laboratory results for every additional antibiotic prescribed to a patient prior to presentation (OR = 1.30, p = 0.006) and for specimens collected using ESwabs (OR = 1.69, p = 0.005). Age, prior eye trauma, outside referrals, and contact lens wear were not significantly associated with negative laboratory results. CONCLUSION: More microbial keratitis associated laboratory tests are being taken over time. Over 60% of tests were negative by 2022. Factors associated with negative laboratory test results included pretreatment with antibiotics and specimens collected with the new collection method.

Relationship between Unstable Housing, Food Insecurity, and Vision Status in the MI-SIGHT Community Eye Disease Screening Program.

PURPOSE: Assess rate of visual impairment (VI) from uncorrected refractive error (URE) and associations with demographic and socioeconomic factors among low-income patients presenting to the Michigan Screening and Intervention for Glaucoma and Eye Health through Telemedicine (MI-SIGHT) program. DESIGN: Cross-sectional study. PARTICIPANTS: Adults ≥ 18 years without acute ocular symptoms. METHODS: MI-SIGHT program participants received a telemedicine-based eye disease screening and ordered glasses through an online optical shop. Participants were categorized based on refractive error (RE) status: VI from URE (presenting visual acuity [PVA] ≤ 20/50, best corrected visual acuity [BCVA] ≥ 20/40), URE without VI (PVA ≥ 20/40, had ≥ 2 lines of improvement to BCVA), and no or adequately corrected RE (PVA ≥ 20/40, < 2 line improvement to BCVA). Patient demographics, self-reported visual function, and satisfaction with glasses obtained through the program were compared between groups using analysis of variance, Kruskal-Wallis, chi-square, and Fisher exact testing. MAIN OUTCOME MEASURES: PVA, BCVA, and presence of VI (defined as PVA ≤ 20/50). RESULTS: Of 1171 participants enrolled in the MI-SIGHT program during the first year, the average age was 55.1 years (standard deviation = 14.5), 37.7% were male, 54.1% identified as Black, and 1166 (99.6%) had both PVA and BCVA measured. VI was observed in 120 (10.3%); 96 had VI from URE (8.2%), 168 (14.4%) had URE without VI, and 878 (75.3%) had no or adequately corrected RE. A smaller percentage of participants with VI from URE reported having a college degree and a larger percentage reported income < $10 000 compared to participants with no or adequately corrected RE (3.2% versus 14.2%, P = 0.02; 45.5% versus 21.6%, respectively, P < 0.0001. Visual function was lowest among participants with VI from URE, followed by those with URE without VI, and then those with no or adequately corrected RE (VFQ9 composite score 67.3 ± 19.6 versus 77.0 ± 14.4 versus 82.2 ± 13.3, respectively; P < 0.0001). 71.2% (n = 830) ordered glasses for an average cost of $36.80 ± $32.60; 97.7% were satisfied with their glasses. CONCLUSIONS: URE was the main cause of VI at 2 clinics serving low-income communities and was associated with reduced vision-related quality of life. An online optical shop with lower prices made eyeglasses accessible to low-income patients. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

A Comparison of Culture Results and Visual Acuity in Contact Lens Related Microbial Keratitis.

PURPOSE: Evaluate the effect of corneal and contact lens-related (CLR) culture results on visual acuity (VA) in patients with microbial keratitis (MK). METHODS: MK patients with corneal and CLR cultures were identified in the University of Michigan electronic health record from August 2012 to April 2022. Test results were classified as laboratory-positive or laboratory-negative. Linear regression was used to examine trends of VA and associations between changes in VA (differences of VA at 90-day and baseline VA) and corneal and CLR culture results, after adjustment for baseline VA. One-sample t-tests were used to test if the slope estimates were different from zero. RESULTS: MK patients (n = 50) were on average 49 years old (standard deviation = 20.9), 56% female, and 90% White. Positive corneal and CLR cultures were reported in 60% and 64% of patients, respectively, and 38% reported both. The agreement rate between corneal and CLR culture results was 30% (n = 15/50). LogMAR VA improved over time in patients with positive corneal and CLR cultures (Estimate=-0.19 per 10-day increase, p = 0.002), and in those with negative corneal and positive CLR cultures (Estimate= -0.17 per 10-day increase, p = 0.004). Compared to patients with negative corneal and CLR cultures, there was a trend toward improvement in VA for patients with positive corneal and CLR cultures (Estimate=-0.68, p = 0.068), and those with negative corneal and positive CLR cultures (Estimate= -0.74, p = 0.059), after adjusting for baseline VA. CONCLUSIONS: Positive CLR cultures are associated with significant improvement in VA over time. These additional cultures can provide guidance on appropriate antimicrobial selection, especially when corneal cultures are negative.

Automatic Classification of Slit-Lamp Photographs by Imaging Illumination.

PURPOSE: The aim of this study was to facilitate deep learning systems in image annotations for diagnosing keratitis type by developing an automated algorithm to classify slit-lamp photographs (SLPs) based on illumination technique. METHODS: SLPs were collected from patients with corneal ulcer at Kellogg Eye Center, Bascom Palmer Eye Institute, and Aravind Eye Care Systems. Illumination techniques were slit beam, diffuse white light, diffuse blue light with fluorescein, and sclerotic scatter (ScS). Images were manually labeled for illumination and randomly split into training, validation, and testing data sets (70%:15%:15%). Classification algorithms including MobileNetV2, ResNet50, LeNet, AlexNet, multilayer perceptron, and k-nearest neighborhood were trained to distinguish 4 type of illumination techniques. The algorithm performances on the test data set were evaluated with 95% confidence intervals (CIs) for accuracy, F1 score, and area under the receiver operator characteristics curve (AUC-ROC), overall and by class (one-vs-rest). RESULTS: A total of 12,132 images from 409 patients were analyzed, including 41.8% (n = 5069) slit-beam photographs, 21.2% (2571) diffuse white light, 19.5% (2364) diffuse blue light, and 17.5% (2128) ScS. MobileNetV2 achieved the highest overall F1 score of 97.95% (CI, 97.94%-97.97%), AUC-ROC of 99.83% (99.72%-99.9%), and accuracy of 98.98% (98.97%-98.98%). The F1 scores for slit beam, diffuse white light, diffuse blue light, and ScS were 97.82% (97.80%-97.84%), 96.62% (96.58%-96.66%), 99.88% (99.87%-99.89%), and 97.59% (97.55%-97.62%), respectively. Slit beam and ScS were the 2 most frequently misclassified illumination. CONCLUSIONS: MobileNetV2 accurately labeled illumination of SLPs using a large data set of corneal images. Effective, automatic classification of SLPs is key to integrating deep learning systems for clinical decision support into practice workflows.

The effect of social determinants of health on severity of microbial keratitis presentation at a tertiary eye care hospital in Southern India.

Purpose: Understanding the association between social determinants of health (SDoHs) and microbial keratitis (MK) can inform underlying risk for patients and identify risk factors associated with worse disease, such as presenting visual acuity (VA) and time to initial presentation. Methods: This was a cross-sectional study was conducted with patients presenting with MK to the cornea clinic at a tertiary care hospital in Madurai, India. Patient demographics, SDoH survey responses, geographic pollution, and clinical features at presentation were collected. Descriptive statistics, univariate analysis, multi-variable linear regression models, and Poisson regression models were utilized. Results: There were 51 patients evaluated. The mean age was 51.2 years (SD = 13.3); 33.3% were female and 55% did not visit a vision center (VC) prior to presenting to the clinic. The median presenting logarithm of the minimum angle of resolution (logMAR) VA was 1.1 [Snellen 20/240, inter-quartile range (IQR) = 20/80 to 20/4000]. The median time to presentation was 7 days (IQR = 4.5 to 10). The average particulate matter 2.5 (PM2.5) concentration, a measure of air pollution, for the districts from which the patients traveled was 24.3 µg/m3 (SD = 1.6). Age- and sex-adjusted linear regression and Poisson regression results showed that higher levels of PM2.5 were associated with 0.28 worse presenting logMAR VA (Snellen 2.8 lines, P = 0.002). Patients who did not visit a VC had a 100% longer time to presentation compared to those who did (incidence rate ratio = 2.0, 95% confidence interval = 1.3-3.0, P = 0.001). Conclusion: Patient SDoH and environmental exposures can impact MK presentation. Understanding SDoH is important for public health and policy implications to mitigate eye health disparities in India.

Social Deprivation and the Risk of Screening Positive for Glaucoma in the MI-SIGHT Telemedicine-Based Glaucoma Detection Program.

PURPOSE: To assess whether increased poverty is associated with increased risk of screening positive for glaucoma or suspected glaucoma in a large public screening and intervention program. DESIGN: Cross-sectional study from 2020 to 2022. PARTICIPANTS: Adults ≥ 18 years old without acute ocular symptoms. METHODS: Michigan Screening and Intervention for Glaucoma and eye Health through Telemedicine (MI-SIGHT) program participants' sociodemographic characteristics and area deprivation index (ADI) values were summarized from the clinical sites, which included a free clinic and a Federally Qualified Health Center (FQHC). The ADI, a composite measure of neighborhood deprivation (range, 1-10; 10 is worst deprivation), was assigned on the basis of the participants' addresses. Group comparisons were performed via 2-sample t tests or Wilcoxon Mann-Whitney tests for continuous measures and chi-square tests or Fisher exact tests with Monte Carlo simulation for categorical measures; Holm adjustment was used for multiple comparisons. MAIN OUTCOME MEASURES: Risk factors for screening positive for glaucoma or suspected glaucoma. RESULTS: Of the 1171 enrolled participants, 1165 (99.5%) completed the screening: 34% at the free clinic and 66% at the FQHC. Participants were on average aged 55.1 ± 14.5 years, 62% were women, 54% self-reported as Black/African-American, 34% White, 10% Hispanic or Latino, and 70% earned < $30 000 annually. The mean ADI was 7.2 ± 3.1. The FQHC had higher (worse) ADI than the free clinic (free clinic: 4.5 ± 2.9, FQHC: 8.5 ± 2.1, P < 0.0001). One-quarter (24%) of participants screened positive for glaucoma or suspected glaucoma. Screening positive for glaucoma or suspected glaucoma was associated with being older (P = 0.01), identifying as Black/African-American (P = 0.0001), having an established eyecare clinician (P = 0.0005), and not driving a personal vehicle to the appointment (P = 0.001), which is a proxy for increased poverty. Participants who screened positive had worse ADI than those who screened negative (7.7 ± 2.8 vs. 7.0 ± 3.2, P = 0.002). A larger percentage of White participants screened positive at the FQHC compared with White participants at the free clinic (21.3% vs. 12.3%, P = 0.01). FQHC White participants had worse ADI than free clinic White participants (7.5 ± 2.5 vs. 3.7 ± 2.7, P < 0.0001). CONCLUSIONS: Personal poverty, assessed as not driving a personal vehicle to the appointment, and neighborhood-level poverty were both associated with increased rates of screening positive for glaucoma or suspected glaucoma. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Microbial Keratitis Isolates at a Midwestern Tertiary Eye Care Center.

PURPOSE: The aim of the study was to describe the pathogen, antimicrobial susceptibility, and trends over time of microbial keratitis (MK) at a Midwestern tertiary eye center. METHODS: Patients with MK were identified in the electronic health record from August 2012 to December 2021. Diagnostic laboratory tests with an MK diagnosis were identified and classified as laboratory positive or laboratory negative. Laboratory-positive infections were categorized as bacterial (gram-positive, gram-negative, or acid-fast bacilli), fungal, viral, Acanthamoeba , or polymicrobial. Antimicrobial susceptibilities were obtained. Trends over time were assessed using linear regression. RESULTS: Of 3288 patients with MK identified, 1012 (30.8%) had laboratory tests performed. Laboratory-positive infections (n = 499, 49.3%) were bacterial in 73.5% (n = 367) of cases, fungal in 7.8% (n = 39), viral in 1.6% (n = 8), Acanthamoeba in 1.4% (n = 7), and polymicrobial in 15.6% (n = 78). Of bacterial infections, 70% (n = 257) were gram-positive, with coagulase-negative Staphylococcus (CoNS; 31%) and Staphylococcus aureus ( S. aureus ; 23%) as the most common pathogens. Bacteria were acid-fast bacilli in 1.9% (n = 7) of cases and gram-negative in 28.1% (n = 103), with Pseudomonas aeruginosa as the predominant pathogen (47.7%). S. aureus showed antibiotic resistance from 0% (vancomycin and gentamicin) to 50% (erythromycin); CoNS from 0% (vancomycin, gentamicin, and moxifloxacin) to 64% (erythromycin). The rate of laboratory-negative MK significantly increased over time (slope estimate = 2.1% per year, P = 0.034). Rates of bacterial, fungal, viral, Acanthamoeba , and polymicrobial infections were stable over time (all slope P > 0.05). CONCLUSIONS: Bacterial keratitis accounted for most MK cases. Gram-positive bacteria were the most common isolates. CoNS and S. aureus were universally susceptible to vancomycin. Rates of MK infection types were stable over time.

Seeing Red: Associations between Historical Redlining and Present-Day Visual Impairment and Blindness.

PURPOSE: Redlining was a discriminatory housing policy in the United States that began in 1933 and denoted neighborhoods with high proportions of Black individuals as "undesirable" and a high risk for lending, which therefore excluded people from obtaining traditional insured mortgages to purchase a home. Simultaneously, realtors discouraged Black individuals from purchasing homes in predominantly non-Black neighborhoods. This resulted in decreased home ownership and wealth accumulation among Black individuals and neighborhoods with high proportions of Black individuals. This study investigated rates of visual impairment and blindness (VIB) in neighborhoods that at one time were graded for redlining. DESIGN: Secondary data analysis of American Community Survey data and historical grades for redlining. PARTICIPANTS: United States census tracts (CTs) from 2010 with historical grades for redlining. METHODS: One-way analysis of variance, Kruskal-Wallis test, chi-square test, and logistic regression modeling. MAIN OUTCOME MEASURES: The main outcome was CT percentage of residents reporting VIB and the association with historical grades for redlining. Grades were converted to numeric values (1 to 4, with higher values indicating worse grade) and aggregated over a CT based on the distribution of grades within to obtain a redlining score. Logistic regression was used to model the effect of redlining on the probability of having VIB. RESULTS: Eleven thousand six hundred sixty-eight CTs were analyzed. Logistic regression found that a 1-unit increase in average redlining score was associated with a 13.4% increased odds of VIB after controlling for CT measures of age, sex, people of color (any non-White race), state, and population size (odds ratio [OR], 1.134; 95% confidence interval [CI], 1.131-1.138; P < 0.001). Similar results were observed for an additional model that adjusted for the estimated percentage of Black residents within a CT (OR, 1.180; 95% CI, 1.177-1.183; P < 0.001). CONCLUSIONS: Historical government-sanctioned residential segregation through redlining was found to be associated with higher proportions of people living with VIB in these neighborhoods today. Understanding how neighborhood segregation impacts eye health is important for planning improved mechanisms of eye care delivery to mitigate health disparities. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Prediction of Visual Acuity in Patients With Microbial Keratitis.

PURPOSE: The purpose of this study was to predict visual acuity (VA) 90 days after presentation for patients with microbial keratitis (MK) from data at the initial clinical ophthalmic encounter. METHODS: Patients with MK were identified in the electronic health record between August 2012 and February 2021. Random forest (RF) models were used to predict 90-day VA < 20/40 [visual impairment (VI)]. Predictors evaluated included age, sex, initial VA, and information documented in notes at presentation. Model diagnostics are reported with 95% confidence intervals (CIs) for area under the curve (AUC), misclassification rate, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). RESULTS: One thousand seven hundred ninety-one patients were identified. The presenting logMAR VA was on average 0.86 (Snellen equivalent and standard deviation = 20/144 ± 12.6 lines) in the affected or worse eye, and 43.6% with VI. VI at 90-day follow-up was present in the affected eye or worse eye for 26.9% of patients. The RF model for predicting 90-day VI had an AUC of 95% (CI: 93%-97%) and a misclassification rate of 9% (7%-12%). The percent sensitivity, specificity, PPV, and NPV were 86% (80%-91%), 92% (89%-95%), 81% (74%-86%), and 95% (92%-97%), respectively. Older age, worse presenting VA, and more mentions of "penetrating keratoplasty" and "bandage contact lens" were associated with increased probability of 90-day VI, whereas more mentions of "quiet" were associated with decreased probability of 90-day VI. CONCLUSIONS: RF modeling yielded good sensitivity and specificity to predict VI at 90 days which could guide clinicians about the risk of poor vision outcomes for patients with MK.

Quantifying Clinicians' Diagnostic Uncertainty When Making Initial Treatment Decisions for Microbial Keratitis.

PURPOSE: There is a need to understand physicians' diagnostic uncertainty in the initial management of microbial keratitis (MK). This study aimed to understand corneal specialists' diagnostic uncertainty by establishing risk thresholds for treatment of MK that could be used to inform a decision curve analysis for prediction modeling. METHODS: A cross-sectional survey of corneal specialists with at least 2 years clinical experience was conducted. Clinicians provided the percentage risk at which they would always or never treat MK types (bacterial, fungal, herpetic, and amoebic) based on initial ulcer sizes and locations (<2 mm2 central, <2 mm2 peripheral, and >8 mm2 central). RESULTS: Seventy-two of 99 ophthalmologists participated who were 50% female with an average of 14.7 (SD = 10.1) years of experience, 60% in academic practices, and 38% outside the United States. Clinicians reported they would "never" and "always" treat a <2 mm2 central MK infection if the median risk was 0% and 20% for bacterial (interquartile range, IQR = 0-5 and 5-50), 4.5% and 27.5% for herpetic (IQR = 0-10 and 10-50), 5% and 50% for fungal (IQR = 0-10 and 20-75), and 5% and 50.5% for amoebic (IQR = 0-20 and 32-80), respectively. Mixed-effects models showed lower thresholds to treat larger and central infections (P < 0.001, respectively), and thresholds to always treat differed between MK types for the United States (P < 0.001) but not international clinicians. CONCLUSIONS: Risk thresholds to treat differed by practice locations and MK types, location, and size. Researchers can use these thresholds to understand when a clinician is uncertain and to create decision support tools to guide clinicians' treatment decisions.

Recovery of a patient with severe COVID-19 by acupuncture and Chinese herbal medicine adjuvant to standard care / 中西医结合学报

There is currently no drug or therapy that can cure the coronavirus disease 2019 (COVID-19), which is highly contagious and can be life-threatening in severe cases. Therefore, seeking potential effective therapies is an urgent task. An older female at the Leishenshan Hospital in Wuhan, China, with a severe case of COVID-19 with significant shortness of breath and decrease in peripheral oxygen saturation (SpO

Genotype of thalassemia genes and the polymorphism of β- globin gene in Cantonese / 中华血液学杂志

<p><b>OBJECTIVE</b>To understand the genotype of α and β-globin, as well as the polymorphism of β-globin gene in Cantonese in recent years, and to provide an effective genetic diagnosis for thalassemia (thal).</p><p><b>METHODS</b>The single-tube complex PCR was used to detect 3 types of deletional α-thal, reverse dot blotting (RDB)/PCR to detect 3 kinds of undeletional α-thal-αCS, αQS, αWSand 18 kinds of β-thal mutations which were common in Chinese population. A total of 454 cases from Guangdong were undergone thal genotype genetic diagnosis. Among the 454 cases, 142 cases were selected to perform the single nucleotide polymorphisms (SNPs) analysis of β- globin gene by denaturing high-performance liquid chromatography (DHPLC)combining the whole gene sequencing.</p><p><b>RESULTS</b>Of the 454 cases, 438 were diagnosed as thalassemia, including 246 of α-thal, 164 of β-thal and 28 of αβ-thal. In 246 α-thal cases, deletions were the dominant mutations, including 197 cases of αα/--(SEA), 20 of αα/-α(3.7) and 9 of αα/-α(4.2). In 164 β- thal cases, heterozygotes accounted for 92.7% (152/164), the main genotypes were CD41- 42, IVS-II-654, ﹣28 and CD17, and the dual heterozygotes and homozygotes accounted for 4.9% (8/164) and 2.4% (4/164), respectively. The result of β-globin gene screening by DHPLC combining with sequencing was consistent with that of RDB. Moreover, we also found 9 kinds of SNP, in which 2 were unreported, the IVS-I-13 G> A and IVS-II- 310 T>C. In the tested samples, the frequency of 4 kinds SNP was high, among which 3 kinds SNPs-rs713040, rs10768683 and rs1609812 were carried together.</p><p><b>CONCLUSION</b>The dominant genotypes were αα/--(SEA) in α-thal cases, CD41-42, IVS-II-654, -28 and CD17 in β-thal. The frequency of β-thal heterozygotes, homozygotes and αβ-thal is high. DHPLC combining the whole β-globin gene sequencing can effectively detect the common β-thal mutation and even new mutations or SNPs. In Cantonese, the frequency of SNP rs713040, rs10768683, rs7480526 and rs1609812 of β-globin gene was high, and there may exist genetic linkage between rs713040, rs10768683 and rs1609812.</p>

Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).</p><p><b>METHODS</b>Based on clinical symptoms and inheritance pattern, linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene. Subsequently, sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR). Potential mutations were detected by direct DNA sequencing. All patients were also analyzed for the trait of thalassemia.</p><p><b>RESULTS</b>Linkage analysis indicated the candidate gene to be ATRX. Subsequently, a homozygous missense mutation c.736C>T (p.R246C) was found in exon 9 of ATRX in all of the 3 patients. And a heterozygous mutation c.736C>T (p.R246C) was also identified in the patient's mother and grandmother. Similar mutations were not detected in other members of the family. Alpha thalassemia was detected in the proband and another patient, whose genotypes were determined as -α(3.7)/αα and --(sea)/αα, respectively.</p><p><b>CONCLUSION</b>Missense mutation of c.736C>T in ATRX gene is a mutation hotspot, and p.R246C may disturb the function of ATRX-DNMT3-DNMT3L domain (ADD), which may be responsible for the disease in this family.</p>

Prenatal gene diagnosis of oculocutaneous albinism type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).</p><p><b>METHODS</b>To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.</p><p><b>RESULTS</b>The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4+ 3A>T or G253E respectively, but their fetus was heterozygous only with IVS4+3A>T but without G253E, and so was a carrier as his father.</p><p><b>CONCLUSION</b>In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.</p>

Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Of denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants.</p><p><b>METHODS</b>When applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China, the DHPLC was compared with amplification refractory mutation system (ARMS) or DNA sequence technique and assessed carefully in its accuracy, sensitivity, efficiency and the cost of experiment.</p><p><b>RESULTS</b>The G6PD-deficient variants, such as 1388 G-->A (36/124 cases), 1376 G-->T(35), 95 A-->G (14), 1024 C-->T (3), 392 G-->T (4), 871 G-->A /1311 C-->T /IVS XI +93 t-->c (9), 871 G-->A (1), 1311 C-->T/IVS XI +93 t-->c (4), 1376 G-->T /1388 G-->A (1) and so on, were characterized as sharp peaks by DHPLC and verified by DNA sequence. Further, the standard chromatograms were put into database for 8 kinds of common G6PD deficient variants in Chinese populations. And also DHPLC found 3 G6PD variants (1388 G-->A) from 103 negative controls. With taking 8.8 minutes and costing 1 dollar for each sample, DHPLC successfully detected and identified 34 heterozygous females from patients with G6PD deficiency. However, ARMS checked 83 positive controls but got 12 false G6PD mutants, of which 5 were false positive, 7 false negative. Above results show that DHPLC sounds like to be more convenience, sensitive and accurate than ARMS and DNA sequence techniques for checking G6PD mutants.</p><p><b>CONCLUSION</b>DHPLC is of great advantage to screen the G6PD deficient variants with accuracy, convenience, automation and less cost, and significantly to identify the female heterozygote and clinical type IV individuals with G6PD deficiency.</p>

Identification of G6PD gene variants from Hakka population in Guangdong province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Studying on G6PD polymorphism from Hakka population in Guangdong province.</p><p><b>METHODS</b>Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.</p><p><b>RESULTS</b>Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.</p><p><b>CONCLUSION</b>G6PD cDNA 1388 (G-->A), 1376 (G-->T), 95(A--> G), 392 (G-->T), 1024 (C-->T) and 1311 (C-->T) accompanied with intron 11 (93 T-->C) are the common mutations in Chinese population. cDNA 1388 (G-->A), cDNA 1376 (G-->T) are the most popular G6PD gene variants in Hakka population. In this study, no new type of G6PD gene mutation was found in the Hakkas of Guangdong.</p>

Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.</p><p><b>METHODS</b>Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.</p><p><b>RESULTS</b>Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation.</p><p><b>CONCLUSION</b>This complex mutation may be the cause of reduced activity of G6PD enzyme.</p>