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Published in: BMC Ophthalmology 1/2017

Open Access 01-12-2017 | Research article

Construction and implications of structural equation modeling network for pediatric cataract: a data mining research of rare diseases

Authors: Erping Long, Shuangjuan Xu, Zhenzhen Liu, Xiaohang Wu, Xiayin Zhang, Jinghui Wang, Wangting Li, Runzhong Liu, Zicong Chen, Kexin Chen, Tongyong Yu, Dongxuan Wu, Xutu Zhao, Jingjing Chen, Zhuoling Lin, Qianzhong Cao, Duoru Lin, Xiaoyan Li, Jingheng Cai, Haotian Lin

Published in: BMC Ophthalmology | Issue 1/2017

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Abstract

Background

The majority of rare diseases are complex diseases caused by a combination of multiple morbigenous factors. However, uncovering the complex etiology and pathogenesis of rare diseases is difficult due to limited clinical resources and conventional statistical methods. This study aims to investigate the interrelationship and the effectiveness of potential factors of pediatric cataract, for the exploration of data mining strategy in the scenarios of rare diseases.

Methods

We established a pilot rare disease specialized care center to systematically record all information and the entire treatment process of pediatric cataract patients. These clinical records contain the medical history, multiple structural indices, and comprehensive functional metrics. A two-layer structural equation model network was applied, and eight potential factors were filtered and included in the final modeling.

Results

Four risk factors (area, density, location, and abnormal pregnancy experience) and four beneficial factors (axis length, uncorrected visual acuity, intraocular pressure, and age at diagnosis) were identified. Quantifiable results suggested that abnormal pregnancy history may be the principle risk factor among medical history for pediatric cataracts. Moreover, axis length, density, uncorrected visual acuity and age at diagnosis served as the dominant factors and should be emphasized in regular clinical practice.

Conclusions

This study proposes a generalized evidence-based pattern for rare and complex disease data mining, provides new insights and clinical implications on pediatric cataract, and promotes rare-disease research and prevention to benefit patients.
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Literature
3.
go back to reference Lakdawala NK. Big data for a rare disease: examining heart transplantation for left ventricular noncompaction in the united network of organ sharing registry. J Heart Lung Transplant. 2015;34(6):759–60.CrossRefPubMed Lakdawala NK. Big data for a rare disease: examining heart transplantation for left ventricular noncompaction in the united network of organ sharing registry. J Heart Lung Transplant. 2015;34(6):759–60.CrossRefPubMed
4.
5.
go back to reference Patil-Chhablani P, Kekunnaya R, Nischal KK. Complex cases in pediatric cataract. Dev Ophthalmol. 2016;57:85–106.CrossRefPubMed Patil-Chhablani P, Kekunnaya R, Nischal KK. Complex cases in pediatric cataract. Dev Ophthalmol. 2016;57:85–106.CrossRefPubMed
6.
go back to reference Lambert SR. Changes in ocular growth after pediatric cataract surgery. Dev Ophthalmol. 2016;57:29–39.CrossRefPubMed Lambert SR. Changes in ocular growth after pediatric cataract surgery. Dev Ophthalmol. 2016;57:29–39.CrossRefPubMed
7.
go back to reference Song Z, Zhao D, Lv C, Pu W, Xiao W. Ten-year etiologic review of Chinese children hospitalized for pediatric cataracts. Eye Sci. 2014;29(3):138–42.PubMed Song Z, Zhao D, Lv C, Pu W, Xiao W. Ten-year etiologic review of Chinese children hospitalized for pediatric cataracts. Eye Sci. 2014;29(3):138–42.PubMed
8.
go back to reference Gillespie RL, Urquhart J, Anderson B, Williams S, Waller S, Ashworth J, Biswas S, Jones S, Stewart F, Lloyd IC, et al. Next-generation sequencing in the diagnosis of metabolic disease marked by pediatric cataract. Ophthalmology. 2016;123(1):217–20.CrossRefPubMed Gillespie RL, Urquhart J, Anderson B, Williams S, Waller S, Ashworth J, Biswas S, Jones S, Stewart F, Lloyd IC, et al. Next-generation sequencing in the diagnosis of metabolic disease marked by pediatric cataract. Ophthalmology. 2016;123(1):217–20.CrossRefPubMed
9.
go back to reference Long E, Chen J, Liu Z, Lin Z, Cao Q, Zhang X, Li X, Luo L, Lin H, Chen W, et al. Interocular anatomical and visual functional differences in pediatric patients with unilateral cataracts. BMC Ophthalmol. 2016;16(1):192.CrossRefPubMedPubMedCentral Long E, Chen J, Liu Z, Lin Z, Cao Q, Zhang X, Li X, Luo L, Lin H, Chen W, et al. Interocular anatomical and visual functional differences in pediatric patients with unilateral cataracts. BMC Ophthalmol. 2016;16(1):192.CrossRefPubMedPubMedCentral
10.
go back to reference Kline RB. Latent variable path analysis in clinical research: a beginner's tour guide. J Clin Psychol. 1991;47(4):471–84.CrossRefPubMed Kline RB. Latent variable path analysis in clinical research: a beginner's tour guide. J Clin Psychol. 1991;47(4):471–84.CrossRefPubMed
11.
go back to reference Lin H, Long E, Chen W, Liu Y. Documenting rare disease data in China. Science. 2015;349(6252):1064.CrossRefPubMed Lin H, Long E, Chen W, Liu Y. Documenting rare disease data in China. Science. 2015;349(6252):1064.CrossRefPubMed
14.
go back to reference Long E, Lin H, Liu Z, Wu X, Wang L, Jiang J, An Y, Lin Z, Li X, Chen J, et al. An artificial intelligence platform for the multihospital collaborative management of congenital cataracts. Nature biomedical engineering. 2017;0024(1):1–8. Long E, Lin H, Liu Z, Wu X, Wang L, Jiang J, An Y, Lin Z, Li X, Chen J, et al. An artificial intelligence platform for the multihospital collaborative management of congenital cataracts. Nature biomedical engineering. 2017;0024(1):1–8.
15.
go back to reference Lin H, Chen W, Luo L, Zhang X, Chen J, Lin Z, Qu B, Zhan J, Zheng D, Zhong X, et al. Ocular hypertension after pediatric cataract surgery: baseline characteristics and first-year report. PLoS One. 2013;8(7):e69867.CrossRefPubMedPubMedCentral Lin H, Chen W, Luo L, Zhang X, Chen J, Lin Z, Qu B, Zhan J, Zheng D, Zhong X, et al. Ocular hypertension after pediatric cataract surgery: baseline characteristics and first-year report. PLoS One. 2013;8(7):e69867.CrossRefPubMedPubMedCentral
16.
go back to reference Jonas JB, Degenring RF, Kreissig I, Akkoyun I, Kamppeter BA. Intraocular pressure elevation after intravitreal triamcinolone acetonide injection. Ophthalmology. 2005;112(4):593–8.CrossRefPubMed Jonas JB, Degenring RF, Kreissig I, Akkoyun I, Kamppeter BA. Intraocular pressure elevation after intravitreal triamcinolone acetonide injection. Ophthalmology. 2005;112(4):593–8.CrossRefPubMed
17.
go back to reference Mayer DL, Beiser AS, Warner AF, Pratt EM, Raye KN, Lang JM. Monocular acuity norms for the teller acuity cards between ages one month and four years. Invest Ophthalmol Vis Sci. 1995;36(3):671–85.PubMed Mayer DL, Beiser AS, Warner AF, Pratt EM, Raye KN, Lang JM. Monocular acuity norms for the teller acuity cards between ages one month and four years. Invest Ophthalmol Vis Sci. 1995;36(3):671–85.PubMed
18.
go back to reference Cavallini A, Fazzi E, Viviani V, Astori MG, Zaverio S, Bianchi PE, Lanzi G. Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards. Funct Neurol. 2002;17(2):87–92.PubMed Cavallini A, Fazzi E, Viviani V, Astori MG, Zaverio S, Bianchi PE, Lanzi G. Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards. Funct Neurol. 2002;17(2):87–92.PubMed
19.
go back to reference Ciocler FP, Dantas PE. Assessment of visual acuity in patients with dementia using teller acuity cards. Strabismus. 2013;21(2):93–7.CrossRef Ciocler FP, Dantas PE. Assessment of visual acuity in patients with dementia using teller acuity cards. Strabismus. 2013;21(2):93–7.CrossRef
20.
go back to reference Borisovsky G, Silberberg G, Wygnanski-Jaffe T, Spierer A. Results of congenital cataract surgery with and without intraocular lens implantation in infants and children. Graefes Arch Clin Exp Ophthalmol. 2013;251(9):2205–11.CrossRefPubMed Borisovsky G, Silberberg G, Wygnanski-Jaffe T, Spierer A. Results of congenital cataract surgery with and without intraocular lens implantation in infants and children. Graefes Arch Clin Exp Ophthalmol. 2013;251(9):2205–11.CrossRefPubMed
21.
go back to reference Muthen L.K. MBO: Mplus user's guide. 7th edn. Muthen & Muthen: Los Angeles, CA 1998–2012. Muthen L.K. MBO: Mplus user's guide. 7th edn. Muthen & Muthen: Los Angeles, CA 1998–2012.
22.
go back to reference Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039–41.CrossRefPubMed Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039–41.CrossRefPubMed
23.
go back to reference Gong S, Jin S. Current progress in the management of rare diseases and orphan drugs in China. Intractable Rare Dis Res. 2012;1(2):45–52.PubMedPubMedCentral Gong S, Jin S. Current progress in the management of rare diseases and orphan drugs in China. Intractable Rare Dis Res. 2012;1(2):45–52.PubMedPubMedCentral
25.
go back to reference Castaneda C, Nalley K, Mannion C, Bhattacharyya P, Blake P, Pecora A, Goy A, Suh KS. Clinical decision support systems for improving diagnostic accuracy and achieving precision medicine. J Clin Bioinforma. 2015;5:4.CrossRefPubMedPubMedCentral Castaneda C, Nalley K, Mannion C, Bhattacharyya P, Blake P, Pecora A, Goy A, Suh KS. Clinical decision support systems for improving diagnostic accuracy and achieving precision medicine. J Clin Bioinforma. 2015;5:4.CrossRefPubMedPubMedCentral
26.
27.
go back to reference Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, et al. Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology. 2014;121(11):2124–2137.e1-2.CrossRefPubMed Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, et al. Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology. 2014;121(11):2124–2137.e1-2.CrossRefPubMed
28.
go back to reference Eckstein MB, Brown DW, Foster A, Richards AF, Gilbert CE, Vijayalakshmi P. Congenital rubella in south India: diagnosis using saliva from infants with cataract. BMJ. 1996;312(7024):161.CrossRefPubMedPubMedCentral Eckstein MB, Brown DW, Foster A, Richards AF, Gilbert CE, Vijayalakshmi P. Congenital rubella in south India: diagnosis using saliva from infants with cataract. BMJ. 1996;312(7024):161.CrossRefPubMedPubMedCentral
29.
go back to reference Khan NA, Kazzi SN. Yield and costs of screening growth-retarded infants for torch infections. Am J Perinatol. 2000;17(3):131–5.CrossRefPubMed Khan NA, Kazzi SN. Yield and costs of screening growth-retarded infants for torch infections. Am J Perinatol. 2000;17(3):131–5.CrossRefPubMed
Metadata
Title
Construction and implications of structural equation modeling network for pediatric cataract: a data mining research of rare diseases
Authors
Erping Long
Shuangjuan Xu
Zhenzhen Liu
Xiaohang Wu
Xiayin Zhang
Jinghui Wang
Wangting Li
Runzhong Liu
Zicong Chen
Kexin Chen
Tongyong Yu
Dongxuan Wu
Xutu Zhao
Jingjing Chen
Zhuoling Lin
Qianzhong Cao
Duoru Lin
Xiaoyan Li
Jingheng Cai
Haotian Lin
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Ophthalmology / Issue 1/2017
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/s12886-017-0468-5

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