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Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining
In this paper, we have carefully investigated the clinical phenotype and genotype of patients with Johanson-Blizzard syndrome (JBS) with diabetes mellitus as the main manifestation. Retinal vessel segmentation is an important tool for the detection of many eye diseases and plays an important role in...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8865997/ https://www.ncbi.nlm.nih.gov/pubmed/35222891 http://dx.doi.org/10.1155/2022/7414165 |
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author | Wang, Xin Li, Fangfang Zhao, Weiwei |
author_facet | Wang, Xin Li, Fangfang Zhao, Weiwei |
author_sort | Wang, Xin |
collection | PubMed |
description | In this paper, we have carefully investigated the clinical phenotype and genotype of patients with Johanson-Blizzard syndrome (JBS) with diabetes mellitus as the main manifestation. Retinal vessel segmentation is an important tool for the detection of many eye diseases and plays an important role in the automated screening system for retinal diseases. A segmentation algorithm based on a multiscale attentional resolution network is proposed to address the problem of insufficient segmentation of small vessels and pathological missegmentation in existing methods. The network is based on the encoder-decoder architecture, and the attention residual block is introduced in the submodule to enhance the feature propagation ability and reduce the impact of uneven illumination and low contrast on the model. The jump connection is added between the encoder and decoder, and the traditional pooling layer is removed to retain sufficient vascular detail information. Two multiscale feature fusion methods, parallel multibranch structure, and spatial pyramid pooling are used to achieve feature extraction under different sensory fields. We collected the clinical data, laboratory tests, and imaging examinations of JBS patients, extracted the genomic DNA of relevant family members, and validated them by whole-exome sequencing and Sanger sequencing. The patient had diabetes mellitus as the main manifestation, with widened eye spacing, low flat nasal root, hypoplastic nasal wing, and low hairline deformities. Genetic testing confirmed the presence of a c.4463 T > C (p.Ile1488Thr) pure missense mutation in the UBR1 gene, which was a novel mutation locus, and pathogenicity analysis indicated that the locus was pathogenic. This patient carries a new UBR1 gene c.4463 T > C pure mutation, which improves the clinical understanding of the clinical phenotypic spectrum of JBS and broadens the genetic spectrum of the UBR1 gene. The experimental results showed that the method achieved 83.26% and 82.56% F1 values on CHASEDB1 and STARE standard sets, respectively, and 83.51% and 81.20% sensitivity, respectively, and its performance was better than the current mainstream methods. |
format | Online Article Text |
id | pubmed-8865997 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-88659972022-02-24 Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining Wang, Xin Li, Fangfang Zhao, Weiwei J Healthc Eng Research Article In this paper, we have carefully investigated the clinical phenotype and genotype of patients with Johanson-Blizzard syndrome (JBS) with diabetes mellitus as the main manifestation. Retinal vessel segmentation is an important tool for the detection of many eye diseases and plays an important role in the automated screening system for retinal diseases. A segmentation algorithm based on a multiscale attentional resolution network is proposed to address the problem of insufficient segmentation of small vessels and pathological missegmentation in existing methods. The network is based on the encoder-decoder architecture, and the attention residual block is introduced in the submodule to enhance the feature propagation ability and reduce the impact of uneven illumination and low contrast on the model. The jump connection is added between the encoder and decoder, and the traditional pooling layer is removed to retain sufficient vascular detail information. Two multiscale feature fusion methods, parallel multibranch structure, and spatial pyramid pooling are used to achieve feature extraction under different sensory fields. We collected the clinical data, laboratory tests, and imaging examinations of JBS patients, extracted the genomic DNA of relevant family members, and validated them by whole-exome sequencing and Sanger sequencing. The patient had diabetes mellitus as the main manifestation, with widened eye spacing, low flat nasal root, hypoplastic nasal wing, and low hairline deformities. Genetic testing confirmed the presence of a c.4463 T > C (p.Ile1488Thr) pure missense mutation in the UBR1 gene, which was a novel mutation locus, and pathogenicity analysis indicated that the locus was pathogenic. This patient carries a new UBR1 gene c.4463 T > C pure mutation, which improves the clinical understanding of the clinical phenotypic spectrum of JBS and broadens the genetic spectrum of the UBR1 gene. The experimental results showed that the method achieved 83.26% and 82.56% F1 values on CHASEDB1 and STARE standard sets, respectively, and 83.51% and 81.20% sensitivity, respectively, and its performance was better than the current mainstream methods. Hindawi 2022-02-16 /pmc/articles/PMC8865997/ /pubmed/35222891 http://dx.doi.org/10.1155/2022/7414165 Text en Copyright © 2022 Xin Wang et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Wang, Xin Li, Fangfang Zhao, Weiwei Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining |
title | Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining |
title_full | Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining |
title_fullStr | Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining |
title_full_unstemmed | Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining |
title_short | Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining |
title_sort | evaluation of fundus blood flow perfusion in patients with diabetic retinopathy after ppv with fundus color doppler based on big data mining |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8865997/ https://www.ncbi.nlm.nih.gov/pubmed/35222891 http://dx.doi.org/10.1155/2022/7414165 |
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