Pub Date : 2024-02-03DOI: 10.1101/2024.02.02.24302181
Ehsan Vaghefi, Songyang An, Rini Corbett, David Squirrell
Significance. That a retinal image based Deep Learning (DL) Cardiac BioAge Model may be a useful novel tool that can personalise an individuals risk of Atherosclerotic cardiovascular disease (ASCVD) events. Purpose. To determine whether the results issued by our DL Cardiac BioAge model are consistent with the known trends of cardiovascular disease (CVD) risk and the biomarker Leucocyte Telomere Length, in a cohort of individuals from the UK Biobank. Methods. Individuals were divided by sex, ranked by Z adjusted log T/S Leucocyte Telomere length (LTL) and then grouped into deciles. The retinal images were then presented to the DL model and individuals Cardiac BioAges determined. Individuals within each LTL decile was then ranked by Cardiac BioAge, and the mean of the CVD risk biomarkers in the top and bottom quartiles compared. The relationship between an individuals Cardiac BioAge, the CVD biomarkers and LTL were determined using traditional correlation statistics. Results. The DL Cardiac BioAge model was able to accurately stratify individuals by the traditional CVD risk biomarkers, and for both males and females those issued with a Cardiac BioAge in the top quartile of their chronological peer group had a significantly higher mean SBP, HbA1C and 10-year Pooled Cohort Equation ASCVD scores compared to those individuals in the bottom quartile. Cardiac BioAge was associated with LTL shortening for both males and females. (Males: -0.220, P <0.001; Females: -0.174, P <0.001) Conclusion In this small cohort study increasing CVD risk; as assessed by both traditional biomarkers, ASCVD risk scoring and a DL Cardiac BioAge CVD risk model, was inversely related to LTL. At a population level our data supports the growing body of evidence that suggests that LTL shortening is a surrogate marker for increasing CVD risk and that this risk can be captured by our novel DL Cardiac BioAge model.
{"title":"Comparison of Leucocyte Telomere Length, Atherosclerotic Cardiovascular disease risk, using retinal imaging","authors":"Ehsan Vaghefi, Songyang An, Rini Corbett, David Squirrell","doi":"10.1101/2024.02.02.24302181","DOIUrl":"https://doi.org/10.1101/2024.02.02.24302181","url":null,"abstract":"Significance.\u0000That a retinal image based Deep Learning (DL) Cardiac BioAge Model may be a useful novel tool that can personalise an individuals risk of Atherosclerotic cardiovascular disease (ASCVD) events. Purpose.\u0000To determine whether the results issued by our DL Cardiac BioAge model are consistent with the known trends of cardiovascular disease (CVD) risk and the biomarker Leucocyte Telomere Length, in a cohort of individuals from the UK Biobank.\u0000Methods.\u0000Individuals were divided by sex, ranked by Z adjusted log T/S Leucocyte Telomere length (LTL) and then grouped into deciles. The retinal images were then presented to the DL model and individuals Cardiac BioAges determined. Individuals within each LTL decile was then ranked by Cardiac BioAge, and the mean of the CVD risk biomarkers in the top and bottom quartiles compared. The relationship between an individuals Cardiac BioAge, the CVD biomarkers and LTL were determined using traditional correlation statistics.\u0000Results.\u0000The DL Cardiac BioAge model was able to accurately stratify individuals by the traditional CVD risk biomarkers, and for both males and females those issued with a Cardiac BioAge in the top quartile of their chronological peer group had a significantly higher mean SBP, HbA1C and 10-year Pooled Cohort Equation ASCVD scores compared to those individuals in the bottom quartile. Cardiac BioAge was associated with LTL shortening for both males and females. (Males: -0.220, P <0.001; Females: -0.174, P <0.001) Conclusion\u0000In this small cohort study increasing CVD risk; as assessed by both traditional biomarkers, ASCVD risk scoring and a DL Cardiac BioAge CVD risk model, was inversely related to LTL. At a population level our data supports the growing body of evidence that suggests that LTL shortening is a surrogate marker for increasing CVD risk and that this risk can be captured by our novel DL Cardiac BioAge model.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"288 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139677714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-02DOI: 10.1101/2024.02.01.24302161
Rahi Patel, Agnes Park, Elaine Marchi, Andrea Gropman, Matthew Whitehead, Gholson J Lyon
NAA10-related and NAA15-related neurodevelopmental syndrome, otherwise known as Ogden Syndrome, is known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 mutations are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic mutations in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with pathogenic mutations in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in-person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified between the NAA10 and NAA15 mutations. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.
{"title":"Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors","authors":"Rahi Patel, Agnes Park, Elaine Marchi, Andrea Gropman, Matthew Whitehead, Gholson J Lyon","doi":"10.1101/2024.02.01.24302161","DOIUrl":"https://doi.org/10.1101/2024.02.01.24302161","url":null,"abstract":"NAA10-related and NAA15-related neurodevelopmental syndrome, otherwise known as Ogden Syndrome, is known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 mutations are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic mutations in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with pathogenic mutations in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in-person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified between the NAA10 and NAA15 mutations. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139677711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-02DOI: 10.1101/2024.01.30.24301871
Rogier J. Nell, Mieke Versluis, Nino V. Menger, Robert M. Verdijk, Wilma G.M. Kroes, Ellen H.W. Kapiteijn, Gregorius P.M. Luyten, Martine J. Jager, Pieter A. van der Velden
Uveal melanoma is an aggressive intraocular tumour characterised by a limited number of genetic alterations. However, the evolution of this malignancy remains enigmatic. In this study, we performed a deep quantitative analysis of 80 primary uveal melanomas by novel digital PCR-based approaches. Mutations were quantified by targeted and drop-off mutation assays, copy number alterations were precisely measured by quantifying the allelic imbalance of heterozygous single-nucleotide polymorphisms. By comparing the absolute abundances of genetic alterations present in a bulk tumour, the heterogeneity and early evolution could be inferred. Tumour progression was further studied by analysing matched primary and metastatic lesions from five patients. Gαq signalling mutations were generically and always clonally present, suggesting to be acquired in the earliest stage of uveal melanoma development ('primary driver'). Next, three main evolutionary subtypes could be identified based on having an EIF1AX mutation, SF3B1 mutation or monosomy 3p. These alterations were usually mutually-exclusive and (near-) clonally abundant, suggesting to represent distinct secondary drivers. This contrasts with gains and amplifications of chromosome 8q, which were not restricted to one of the main subtypes and showed subclonality in 31% of the affected tumours. These tertiary alterations were not required for metastatic dissemination. Using high-resolution analyses, we identified systematic differences in the evolutionary timing of genetic events in uveal melanoma. The observed intratumour heterogeneity suggests a more complex model of gradual tumour evolution and argues for a comprehensive genetic analysis in clinical practice, which may be facilitated by the sensitive digital PCR assays developed in this study.
{"title":"Digital PCR-based deep quantitative profiling delineates heterogeneity and evolution of uveal melanoma","authors":"Rogier J. Nell, Mieke Versluis, Nino V. Menger, Robert M. Verdijk, Wilma G.M. Kroes, Ellen H.W. Kapiteijn, Gregorius P.M. Luyten, Martine J. Jager, Pieter A. van der Velden","doi":"10.1101/2024.01.30.24301871","DOIUrl":"https://doi.org/10.1101/2024.01.30.24301871","url":null,"abstract":"Uveal melanoma is an aggressive intraocular tumour characterised by a limited number of genetic alterations. However, the evolution of this malignancy remains enigmatic. In this study, we performed a deep quantitative analysis of 80 primary uveal melanomas by novel digital PCR-based approaches. Mutations were quantified by targeted and drop-off mutation assays, copy number alterations were precisely measured by quantifying the allelic imbalance of heterozygous single-nucleotide polymorphisms. By comparing the absolute abundances of genetic alterations present in a bulk tumour, the heterogeneity and early evolution could be inferred. Tumour progression was further studied by analysing matched primary and metastatic lesions from five patients. Gαq signalling mutations were generically and always clonally present, suggesting to be acquired in the earliest stage of uveal melanoma development ('primary driver'). Next, three main evolutionary subtypes could be identified based on having an EIF1AX mutation, SF3B1 mutation or monosomy 3p. These alterations were usually mutually-exclusive and (near-) clonally abundant, suggesting to represent distinct secondary drivers. This contrasts with gains and amplifications of chromosome 8q, which were not restricted to one of the main subtypes and showed subclonality in 31% of the affected tumours. These tertiary alterations were not required for metastatic dissemination. Using high-resolution analyses, we identified systematic differences in the evolutionary timing of genetic events in uveal melanoma. The observed intratumour heterogeneity suggests a more complex model of gradual tumour evolution and argues for a comprehensive genetic analysis in clinical practice, which may be facilitated by the sensitive digital PCR assays developed in this study.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139677712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1101/2024.01.31.24302094
Andreas Katsimpris, Sebastian-Edgar Baumeister, Nafiska Anastasia Voulgari, Hansjörg Baurecht, Stylianos Kandarakis, Michael Nolde
Background: The etiological connection between intraocular pressure (IOP) and the risk of retinal vein occlusion (RVO) remains elusive, particularly regarding whether this risk emanates from the direct influence of elevated intraocular pressure (IOP), irrespective of the presence of primary open-angle glaucoma (POAG), or if it arises as a consequence of the sequelae of POAG. Therefore, we conducted a Mendelian Randomization (MR) mediation analysis to elucidate the mediating role of POAG in the association between IOP and RVO. Methods: We identified 47 single-nucleotide polymorphisms (SNPs) associated with IOP (P-value < 5x10-8) leveraging data from a genome-wide association study (GWAS) (N = 97,653) obtained from the UK Biobank and 50 SNPs associated with POAG (P-value < 5x10-8) from a GWAS meta-analysis (16,677 cases and 199,580 controls). We related these SNPs with RVO using a GWAS of 775 RVO cases and 376,502 controls from FinnGen. By utilizing univariable and multivariable MR analyses we calculated the total effect of IOP on RVO and estimated the degree to which POAG mediates this association. Results: MR analyses showed that higher IOP is associated with higher RVO risk (odds ratio of RVO per 1 mmHg increase in IOP: 1.53; 95% confidence interval: 1.04 to 2.26; p-value = 0.03). Moreover, our MR mediation analysis suggested that 91.6% of the total effect of IOP on RVO risk was mediated through POAG. The primary results were consistent with estimates of pleiotropy-robust MR methods. Conclusion: Our findings suggest that higher IOP increases the risk of RVO and that the majority of this effect is mediated through POAG.
{"title":"Intraocular pressure, primary open-angle glaucoma and the risk of retinal vein occlusion: a Mendelian randomization mediation analysis","authors":"Andreas Katsimpris, Sebastian-Edgar Baumeister, Nafiska Anastasia Voulgari, Hansjörg Baurecht, Stylianos Kandarakis, Michael Nolde","doi":"10.1101/2024.01.31.24302094","DOIUrl":"https://doi.org/10.1101/2024.01.31.24302094","url":null,"abstract":"Background: The etiological connection between intraocular pressure (IOP) and the risk of retinal vein occlusion (RVO) remains elusive, particularly regarding whether this risk emanates from the direct influence of elevated intraocular pressure (IOP), irrespective of the presence of primary open-angle glaucoma (POAG), or if it arises as a consequence of the sequelae of POAG. Therefore, we conducted a Mendelian Randomization (MR) mediation analysis to elucidate the mediating role of POAG in the association between IOP and RVO.\u0000Methods: We identified 47 single-nucleotide polymorphisms (SNPs) associated with IOP (P-value < 5x10-8) leveraging data from a genome-wide association study (GWAS) (N = 97,653) obtained from the UK Biobank and 50 SNPs associated with POAG (P-value < 5x10-8) from a GWAS meta-analysis (16,677 cases and 199,580 controls). We related these SNPs with RVO using a GWAS of 775 RVO cases and 376,502 controls from FinnGen. By utilizing univariable and multivariable MR analyses we calculated the total effect of IOP on RVO and estimated the degree to which POAG mediates this association.\u0000Results: MR analyses showed that higher IOP is associated with higher RVO risk (odds ratio of RVO per 1 mmHg increase in IOP: 1.53; 95% confidence interval: 1.04 to 2.26; p-value = 0.03). Moreover, our MR mediation analysis suggested that 91.6% of the total effect of IOP on RVO risk was mediated through POAG. The primary results were consistent with estimates of pleiotropy-robust MR methods. Conclusion: Our findings suggest that higher IOP increases the risk of RVO and that the majority of this effect is mediated through POAG.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"50 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139667378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-28DOI: 10.1101/2024.01.26.24301802
Kosei Tomita, Takashi Nishida, Yoshiyuki Kitaguchi, Masahiro Miyake, Koji Kitazawa
Background/aims: To compare the diagnostic accuracy of Generative Pre-trained Transformer with Vision (GPT)-4 and GPT-4 with Vision (GPT-4V) for clinical questions in ophthalmology. Methods: The questions were collected from the "Diagnosis This" section on the American Academy of Ophthalmology website. We tested 580 questions and presented GPT-4V with the same questions under two conditions: 1) multimodal model, incorporating both the question text and associated images, and 2) text-only model. We then compared the difference in accuracy between the two conditions using the chi-square test. The percentage of general correct answers was also collected from the website. Results: The GPT-4V model demonstrated higher accuracy with images (71.7%) than without images (66.7%, p<0.001). Both GPT-4 models showed higher accuracy than the general correct answers on the website [64.6 (95%CI, 62.9 to 66.3)]. Conclusions: The addition of information from images enhances the performance of GPT-4V in diagnosing clinical questions in ophthalmology. This suggests that integrating multimodal data could be crucial in developing more effective and reliable diagnostic tools in medical fields.
背景/目的比较视觉生成预训练变换器（GPT）-4 和视觉生成预训练变换器-4（GPT-4V）对眼科临床问题的诊断准确性：方法：我们从美国眼科学会网站的 "Diagnosis This "栏目中收集了问题。我们测试了 580 个问题，并在两种条件下用相同的问题展示了 GPT-4V：1）多模态模型，包含问题文本和相关图像；2）纯文本模型。然后，我们使用卡方检验比较了两种条件下的准确率差异。我们还从网站上收集了一般正确答案的百分比：有图像的 GPT-4V 模型的准确率（71.7%）高于无图像的（66.7%，p<0.001）。两个 GPT-4 模型的准确率均高于网站上的一般正确答案[64.6 (95%CI, 62.9 to 66.3)]：结论：增加图像信息可提高 GPT-4V 诊断眼科临床问题的性能。这表明，整合多模态数据对于在医疗领域开发更有效、更可靠的诊断工具至关重要。
{"title":"Performance of GPT-4V(ision) in Ophthalmology: Use of Images in Clinical Questions","authors":"Kosei Tomita, Takashi Nishida, Yoshiyuki Kitaguchi, Masahiro Miyake, Koji Kitazawa","doi":"10.1101/2024.01.26.24301802","DOIUrl":"https://doi.org/10.1101/2024.01.26.24301802","url":null,"abstract":"Background/aims: To compare the diagnostic accuracy of Generative Pre-trained Transformer with Vision (GPT)-4 and GPT-4 with Vision (GPT-4V) for clinical questions in ophthalmology.\u0000Methods: The questions were collected from the \"Diagnosis This\" section on the American Academy of Ophthalmology website. We tested 580 questions and presented GPT-4V with the same questions under two conditions: 1) multimodal model, incorporating both the question text and associated images, and 2) text-only model. We then compared the difference in accuracy between the two conditions using the chi-square test. The percentage of general correct answers was also collected from the website.\u0000Results: The GPT-4V model demonstrated higher accuracy with images (71.7%) than without images (66.7%, p<0.001). Both GPT-4 models showed higher accuracy than the general correct answers on the website [64.6 (95%CI, 62.9 to 66.3)].\u0000Conclusions: The addition of information from images enhances the performance of GPT-4V in diagnosing clinical questions in ophthalmology. This suggests that integrating multimodal data could be crucial in developing more effective and reliable diagnostic tools in medical fields.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139587463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-26DOI: 10.1101/2024.01.24.24301578
Lamiaa A. El-aidy, Yasser M. Ibrahim, Mohamed A. Elmarakby, Manar A. Ghali
PURPOSE To report effectiveness of bimedial plication and vertical transposition for the correction of exotropia associated with A- or V-pattern and compare it with bimedial resection and vertical transposition. METHODS We retrospectively reviewed the results of surgery of patients who underwent bimedial plication (group I) versus bimedial resection (group II) with vertical offset to correct both exotropia and pattern deviation not secondary to oblique overaction in the period between January 2021 and January 2023. Results of both groups were compared. Success was considered when pattern deviation was ≤ 8 prism diopters PD and horizontal deviation was within 10 PD of orthophoria at 6 months postoperatively. RESULTS The mean preoperative angle of exotropia in PD was 40.6 +/- 7.2 in group I and 41.1 +/- 7.5 in group II (p=.8). At 6 months postoperatively, they achieved esotropia of 4.6 +/- 4.1 and 2.5 +/- 4.5 PD respectively (no significant difference between both groups; p=.19). The mean preoperative pattern deviation was 21.3 +/- 3.7 PD in group I and 21.6 +/- 4.4 in group II. Postoperative pattern collapse was 16.7 +/- 5.6 and 16.6 +/- 4.1 respectively. The percentage of success in pattern collapse was 90.6% in group I and 84.4% in group II (no significant difference between both groups; p=.71). CONCLUSION Vertical transposition with plication of the medial recti is a safe, effective, and rapid technique for the correction of cases of A- or V- pattern exotropia not associated with oblique overaction. Surgical results were comparable to resection and vertical transposition.
{"title":"Efficacy of Transposition of Plicated Medial Rectus Muscles in the Treatment of Pattern Exotropia (A Comparative Study)","authors":"Lamiaa A. El-aidy, Yasser M. Ibrahim, Mohamed A. Elmarakby, Manar A. Ghali","doi":"10.1101/2024.01.24.24301578","DOIUrl":"https://doi.org/10.1101/2024.01.24.24301578","url":null,"abstract":"PURPOSE\u0000To report effectiveness of bimedial plication and vertical transposition for the correction of exotropia associated with A- or V-pattern and compare it with bimedial resection and vertical transposition.\u0000METHODS\u0000We retrospectively reviewed the results of surgery of patients who underwent bimedial plication (group I) versus bimedial resection (group II) with vertical offset to correct both exotropia and pattern deviation not secondary to oblique overaction in the period between January 2021 and January 2023. Results of both groups were compared. Success was considered when pattern deviation was ≤ 8 prism diopters PD and horizontal deviation was within 10 PD of orthophoria at 6 months postoperatively.\u0000RESULTS\u0000The mean preoperative angle of exotropia in PD was 40.6 +/- 7.2 in group I and 41.1 +/- 7.5 in group II (p=.8). At 6 months postoperatively, they achieved esotropia of 4.6 +/- 4.1 and 2.5 +/- 4.5 PD respectively (no significant difference between both groups; p=.19). The mean preoperative pattern deviation was 21.3 +/- 3.7 PD in group I and 21.6 +/- 4.4 in group II. Postoperative pattern collapse was 16.7 +/- 5.6 and 16.6 +/- 4.1 respectively. The percentage of success in pattern collapse was 90.6% in group I and 84.4% in group II (no significant difference between both groups; p=.71).\u0000CONCLUSION\u0000Vertical transposition with plication of the medial recti is a safe, effective, and rapid technique for the correction of cases of A- or V- pattern exotropia not associated with oblique overaction. Surgical results were comparable to resection and vertical transposition.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139587228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-24DOI: 10.1101/2024.01.23.24301684
Michael S Herron, Lingchen Wang, Christopher S von Bartheld
Purpose. Strabismus is more frequent in cerebral palsy (CP) than in the normal population, but reports differ how much it is increased. We here examined the global prevalence and types of strabismus in CP, whether esotropia or exotropia is more frequent, and whether the prevalence differs between ethnicities and/or country income levels, and between generations. Methods. We compiled in a systematic review and meta-analysis the results of 147 CP studies that report the prevalence of strabismus or the ratio of esotropia to exotropia, and we conducted subgroup analyses for region (income level) and ethnicity. We performed a pooled analysis for the CP strabismus prevalence, and estimated the global number of CP cases with strabismus. Results. The pooled prevalence of strabismus in CP is 49.8% in high-income countries and 39.8% in lower-income countries. We estimate the global number of strabismus cases in CP as 12.2 million, with 7.6 million males and 4.6 million females, based on current estimates of 29.6 million global CP cases. Esotropia is more frequent than exotropia in Caucasians, while exotropia is more frequent than esotropia in Hispanic and in some Asian and African populations. The strabismus prevalence in CP increases with increasing country income levels. Conclusion. Generational changes in strabismus prevalence appear to reflect a transition of CP types and an increase in prevalence as countries attain higher income and more effective maternal health care. The distribution of esotropia and exotropia in CP patients largely reflects the horizontal strabismus type that is predominant in the subject's ethnicity.
{"title":"Prevalence and types of strabismus in cerebral palsy: A global and historical perspective based on a systematic review and meta-analysis","authors":"Michael S Herron, Lingchen Wang, Christopher S von Bartheld","doi":"10.1101/2024.01.23.24301684","DOIUrl":"https://doi.org/10.1101/2024.01.23.24301684","url":null,"abstract":"Purpose. Strabismus is more frequent in cerebral palsy (CP) than in the normal population, but reports differ how much it is increased. We here examined the global prevalence and types of strabismus in CP, whether esotropia or exotropia is more frequent, and whether the prevalence differs between ethnicities and/or country income levels, and between generations. Methods. We compiled in a systematic review and meta-analysis the results of 147 CP studies that report the prevalence of strabismus or the ratio of esotropia to exotropia, and we conducted subgroup analyses for region (income level) and ethnicity. We performed a pooled analysis for the CP strabismus prevalence, and estimated the global number of CP cases with strabismus.\u0000Results. The pooled prevalence of strabismus in CP is 49.8% in high-income countries and 39.8% in lower-income countries. We estimate the global number of strabismus cases in CP as 12.2 million, with 7.6 million males and 4.6 million females, based on current estimates of 29.6 million global CP cases. Esotropia is more frequent than exotropia in Caucasians, while exotropia is more frequent than esotropia in Hispanic and in some Asian and African populations. The strabismus prevalence in CP increases with increasing country income levels.\u0000Conclusion. Generational changes in strabismus prevalence appear to reflect a transition of CP types and an increase in prevalence as countries attain higher income and more effective maternal health care. The distribution of esotropia and exotropia in CP patients largely reflects the horizontal strabismus type that is predominant in the subject's ethnicity.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139553734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-23DOI: 10.1101/2024.01.23.24301660
Luis Filipe Nakayama, David Restrepo, Joao Matos, Lucas Zago Ribeiro, Fernando Korn Malerbi, Leo Anthony Celi, Caio Saito Regatieri
Introduction: The Brazilian Multilabel Ophthalmological Dataset (BRSET) addresses the scarcity of publicly available ophthalmological datasets in Latin America. BRSET comprises 16,266 color fundus retinal photos from 8,524 Brazilian patients, aiming to enhance data representativeness, serving as a research and teaching tool. It contains sociodemographic information, enabling investigations into differential model performance across demographic groups. Methods: Data from three São Paulo outpatient centers yielded demographic and medical information from electronic records, including nationality, age, sex, clinical history, insulin use, and duration of diabetes diagnosis. A retinal specialist labeled images for anatomical features (optic disc, blood vessels, macula), quality control (focus, illumination, image field, artifacts), and pathologies (e.g., diabetic retinopathy). Diabetic retinopathy was graded using International Clinic Diabetic Retinopathy and Scottish Diabetic Retinopathy Grading. Validation used Dino V2 Base for feature extraction, with 70% training and 30% testing subsets. Support Vector Machines (SVM) and Logistic Regression (LR) were employed with weighted training. Performance metrics included area under the receiver operating curve (AUC) and Macro F1-score. Results: BRSET comprises 65.1% Canon CR2 and 34.9% Nikon NF5050 images. 61.8% of the patients are female, and the average age is 57.6 years. Diabetic retinopathy affected 15.8% of patients, across a spectrum of disease severity. Anatomically, 20.2% showed abnormal optic discs, 4.9% abnormal blood vessels, and 28.8% abnormal macula. Models were trained on BRSET in three prediction tasks: “diabetes diagnosis”; “sex classification”; and “diabetic retinopathy diagnosis”. Discussion: BRSET is the first multilabel ophthalmological dataset in Brazil and Latin America. It provides an opportunity for investigating model biases by evaluating performance across demographic groups. The model performance of three prediction tasks demonstrates the value of the dataset for external validation and for teaching medical computer vision to learners in Latin America using locally relevant data sources.
简介巴西多标签眼科数据集（BRSET）解决了拉丁美洲缺乏公开眼科数据集的问题。巴西多标签眼科数据集由来自 8524 名巴西患者的 16266 张彩色眼底视网膜照片组成，旨在提高数据的代表性，作为研究和教学工具。它包含社会人口信息，可用于研究不同人口群体的模型性能差异：来自圣保罗三个门诊中心的数据提供了电子病历中的人口统计学和医学信息，包括国籍、年龄、性别、临床病史、胰岛素使用情况和糖尿病诊断持续时间。视网膜专家对图像的解剖特征（视盘、血管、黄斑）、质量控制（聚焦、照明、像场、伪影）和病理（如糖尿病视网膜病变）进行标记。糖尿病视网膜病变采用国际临床糖尿病视网膜病变和苏格兰糖尿病视网膜病变分级法进行分级。验证使用 Dino V2 Base 进行特征提取，其中 70% 为训练子集，30% 为测试子集。采用支持向量机（SVM）和逻辑回归（LR）进行加权训练。性能指标包括接收器工作曲线下面积（AUC）和宏观 F1 分数：BRSET包括65.1%的佳能CR2和34.9%的尼康NF5050图像。61.8%的患者为女性，平均年龄为 57.6 岁。15.8%的患者患有糖尿病视网膜病变，病情严重程度不一。从解剖学角度看，20.2%的患者视盘异常，4.9%的患者血管异常，28.8%的患者黄斑异常。在 BRSET 上对三个预测任务的模型进行了训练："糖尿病诊断"、"性别分类 "和 "糖尿病视网膜病变诊断"：BRSET是巴西和拉丁美洲首个多标签眼科数据集。它为通过评估不同人口群体的性能来研究模型偏差提供了机会。三个预测任务的模型性能证明了该数据集的外部验证价值，以及利用本地相关数据源向拉丁美洲学习者传授医学计算机视觉知识的价值。
{"title":"BRSET: A Brazilian Multilabel Ophthalmological Dataset of Retina Fundus Photos","authors":"Luis Filipe Nakayama, David Restrepo, Joao Matos, Lucas Zago Ribeiro, Fernando Korn Malerbi, Leo Anthony Celi, Caio Saito Regatieri","doi":"10.1101/2024.01.23.24301660","DOIUrl":"https://doi.org/10.1101/2024.01.23.24301660","url":null,"abstract":"Introduction: The Brazilian Multilabel Ophthalmological Dataset (BRSET) addresses the scarcity of publicly available ophthalmological datasets in Latin America. BRSET comprises 16,266 color fundus retinal photos from 8,524 Brazilian patients, aiming to enhance data representativeness, serving as a research and teaching tool. It contains sociodemographic information, enabling investigations into differential model performance across demographic groups.\u0000Methods: Data from three São Paulo outpatient centers yielded demographic and medical information from electronic records, including nationality, age, sex, clinical history, insulin use, and duration of diabetes diagnosis. A retinal specialist labeled images for anatomical features (optic disc, blood vessels, macula), quality control (focus, illumination, image field, artifacts), and pathologies (e.g., diabetic retinopathy). Diabetic retinopathy was graded using International Clinic Diabetic Retinopathy and Scottish Diabetic Retinopathy Grading. Validation used Dino V2 Base for feature extraction, with 70% training and 30% testing subsets. Support Vector Machines (SVM) and Logistic Regression (LR) were employed with weighted training. Performance metrics included area under the receiver operating curve (AUC) and Macro F1-score.\u0000Results: BRSET comprises 65.1% Canon CR2 and 34.9% Nikon NF5050 images. 61.8% of the patients are female, and the average age is 57.6 years. Diabetic retinopathy affected 15.8% of patients, across a spectrum of disease severity. Anatomically, 20.2% showed abnormal optic discs, 4.9% abnormal blood vessels, and 28.8% abnormal macula. Models were trained on BRSET in three prediction tasks: “diabetes diagnosis”; “sex classification”; and “diabetic retinopathy diagnosis”.\u0000Discussion: BRSET is the first multilabel ophthalmological dataset in Brazil and Latin America. It provides an opportunity for investigating model biases by evaluating performance across demographic groups. The model performance of three prediction tasks demonstrates the value of the dataset for external validation and for teaching medical computer vision to learners in Latin America using locally relevant data sources.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139553737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-17DOI: 10.1101/2024.01.12.24301230
Joel Jaskari, Jaakko Sahlsten, Paula Summanen, Jukka Moilanen, Erika Lehtola, Marjo Aho, Elina Säpyskä, Kustaa Hietala, Kimmo Kaski
Diabetic retinopathy (DR) is a sight-threatening condition caused by diabetes. Screening programmes for DR include eye examinations, where the patient’s fundi are photographed, and the findings, including DR severity, are recorded in the medical report. However, statistical analyses based on DR severity require structured labels that calls for laborious manual annotation process if the report format is unstructured. In this work, we propose a large language model DR-GPT for classification of the DR severity from unstructured medical reports. On a clinical set of medical reports, DR-GPT reaches 0.975 quadratic weighted Cohen’s kappa using truncated Early Treatment Diabetic Retinopathy Study scale. When DR-GPT annotations for unlabeled data are paired with corresponding fundus images, the additional data improves image classifier performance with statistical significance. Our analysis shows that large language models can be applied for unstructured medical report databases to classify diabetic retinopathy with a variety of applications.
糖尿病视网膜病变（DR）是一种由糖尿病引起的危及视力的疾病。糖尿病视网膜病变筛查计划包括眼部检查，对患者的眼底进行拍照，并将检查结果（包括糖尿病视网膜病变的严重程度）记录在医疗报告中。然而，基于 DR 严重程度的统计分析需要结构化的标签，如果报告格式是非结构化的，则需要费力的人工标注过程。在这项工作中，我们提出了一种大语言模型 DR-GPT，用于对非结构化医疗报告中的 DR 严重程度进行分类。在一组临床医疗报告中，DR-GPT 使用截断的早期治疗糖尿病视网膜病变研究量表达到了 0.975 的二次加权 Cohen's kappa。当 DR-GPT 对未标注数据的注释与相应的眼底图像配对时，额外的数据提高了图像分类器的性能，并具有统计学意义。我们的分析表明，大语言模型可用于非结构化医疗报告数据库，对糖尿病视网膜病变进行分类，应用范围广泛。
{"title":"DR-GPT: a large language model for medical report analysis of diabetic retinopathy patients","authors":"Joel Jaskari, Jaakko Sahlsten, Paula Summanen, Jukka Moilanen, Erika Lehtola, Marjo Aho, Elina Säpyskä, Kustaa Hietala, Kimmo Kaski","doi":"10.1101/2024.01.12.24301230","DOIUrl":"https://doi.org/10.1101/2024.01.12.24301230","url":null,"abstract":"Diabetic retinopathy (DR) is a sight-threatening condition caused by diabetes. Screening programmes for DR include eye examinations, where the patient’s fundi are photographed, and the findings, including DR severity, are recorded in the medical report. However, statistical analyses based on DR severity require structured labels that calls for laborious manual annotation process if the report format is unstructured. In this work, we propose a large language model DR-GPT for classification of the DR severity from unstructured medical reports. On a clinical set of medical reports, DR-GPT reaches 0.975 quadratic weighted Cohen’s kappa using truncated Early Treatment Diabetic Retinopathy Study scale. When DR-GPT annotations for unlabeled data are paired with corresponding fundus images, the additional data improves image classifier performance with statistical significance. Our analysis shows that large language models can be applied for unstructured medical report databases to classify diabetic retinopathy with a variety of applications.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139508514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-10DOI: 10.1101/2024.01.08.24300887
Usama Sohail
Background. Autoimmune disorders involve diverse symptomatic manifestations constituting an abnormal or exaggerated immune function and serve to attack self-antigens and result in tissue destruction. This study aims to comprehensively analyse the prevalence, type, associative factors, and the resultant impact of ocular symptoms on patients presented to rheumatology departments of multi-centre tertiary care hospitals in Lahore. Methods. A total of 300 patients were studied during the time frame of Jan 2021-Dec 2022. Results. Rheumatoid Arthritis comprised 45.7 % (n=137) of patients, Systemic Lupus Erythematosus (SLE) was present in 34.3% (N=103) patients. Spondylarthritis 8.3%, Granulomatous Polyangiitis 3.3%, Juvenile idiopathic arthritis 0.7%, and Bechet Disease 2.3% were present. The total number of patients who developed eye manifestations was 18%. Keratoconjunctivitis Sicca was observed in 4 females and 2 males with overall frequency of 11.1%. Conclusions. Our study showed a surge in the cases of SLE diagnosed and witnessed during the period of 2022, but our study showed an overall decrease in the incidence of eye complications.
{"title":"Ocular manifestations in autoimmune rheumatic diseases.","authors":"Usama Sohail","doi":"10.1101/2024.01.08.24300887","DOIUrl":"https://doi.org/10.1101/2024.01.08.24300887","url":null,"abstract":"Background. Autoimmune disorders involve diverse symptomatic manifestations constituting an abnormal or exaggerated immune function and serve to attack self-antigens and result in tissue destruction. This study aims to comprehensively analyse the prevalence, type, associative factors, and the resultant impact of ocular symptoms on patients presented to rheumatology departments of multi-centre tertiary care hospitals in Lahore. Methods. A total of 300 patients were studied during the time frame of Jan 2021-Dec 2022. Results. Rheumatoid Arthritis comprised 45.7 % (n=137) of patients, Systemic Lupus Erythematosus (SLE) was present in 34.3% (N=103) patients. Spondylarthritis 8.3%, Granulomatous Polyangiitis 3.3%, Juvenile idiopathic arthritis 0.7%, and Bechet Disease 2.3% were present. The total number of patients who developed eye manifestations was 18%. Keratoconjunctivitis Sicca was observed in 4 females and 2 males with overall frequency of 11.1%. Conclusions. Our study showed a surge in the cases of SLE diagnosed and witnessed during the period of 2022, but our study showed an overall decrease in the incidence of eye complications.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139414605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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