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Computer intelligent diagnosis system for osteogenesis imperfecta

A technology for osteogenesis imperfecta and intelligent diagnosis, applied in the field of biomedicine, which can solve the problems of different clinical phenotypes and unclear mechanisms.

Inactive Publication Date: 2020-01-31
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There is a certain correlation between the clinical phenotype of OI and its genotype, but the same genotype can also lead to different clinical phenotypes, and the mechanism is still unclear

Method used

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  • Computer intelligent diagnosis system for osteogenesis imperfecta
  • Computer intelligent diagnosis system for osteogenesis imperfecta
  • Computer intelligent diagnosis system for osteogenesis imperfecta

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0049] Example 1 Correlation Study on Genotype and Phenotype of Osteogenesis Imperfecta Patients

[0050] 1. Research object

[0051] From December 2008 to December 2018, 380 patients with osteogenesis imperfecta were treated in the Department of Endocrinology, Peking Union Medical College Hospital.

[0052] Inclusion criteria:

[0053] a) Fracture family history (+): more than one fragility fracture + lumbar spine (LS) or hip (FN, TH)

[0054] BMD is below -1 SD in the same race, age, and sex (Z value ≤ -1)

[0055] b) If family history of fracture (-): history of fragility fracture + more than 1 typical extraskeletal manifestation (blue sclera, hearing loss, dentin hypoplasia, and joint ligament laxity)

[0056] Exclusion criteria:

[0057] Combined with other genetic metabolic bone diseases, suffering from diseases affecting bone metabolism, or recently receiving drugs that affect bone metabolism

[0058] 2. Collection of clinical data

[0059] All patients were asked...

Embodiment 2

[0086] Example 2 Construction of Osteogenesis Imperfecta Risk Assessment Model

[0087] This study will be based on previous studies on the clinical phenotype spectrum and gene mutation spectrum of a large sample of OI patients, and the age of onset, family history of positive fractures, number of fractures, blue sclera, skeletal deformities, dentin hypoplasia, and joint ligament laxity will be compared. Parameters such as hearing loss, hypertrophic callus, radial head dislocation, interosseous membrane calcification, bone density reduction, and positive detection of pathogenic genes were assigned values ​​using bioinformatics methods, and the sum of OI diagnostic values ​​was calculated. In the past large sample of OI patients, the sum of the above-mentioned OI diagnostic parameter assignments of patients with different clinical types was verified, and a mathematical model for OI risk assessment was obtained by establishing a mathematical simulation. In the future, the sum of ...

Embodiment 3

[0093] Example 3 Application of Osteogenesis Imperfecta Risk Assessment Model

[0094] Patient X, who was diagnosed with mild OI, was 11 years old. He had repeated fractures since he was 8 years old. He had fractures of the femur, tibia, and humerus 5 times. His mother had a history of fractures. Clinical biochemical and imaging examinations showed no evidence of other bone diseases. Physical examination Blue sclera (+) was found, and the bone density Z score was -3.5. The patient's local hospital lacked the conditions for genetic diagnosis. According to the above-mentioned computerized intelligent diagnosis model, we can calculate the sum of diagnostic parameter assignments based on the above-mentioned clinical parameters of the patient: number of fractures (4 points) + positive family history (2 points) + blue sclera (1 point) + low bone density ( 3 points) + age of onset (1 point) = 11 points, according to the diagnostic parameters of the computerized intelligent diagnosis ...

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Abstract

The invention discloses a computer intelligent diagnosis system for hereditary bone diseases, namely osteogenesis imperfecta, which cause repeated fracture and severe harm. According to early researchon clinical phenotype and pathogenic gene mutation of a large sample patient, the computer intelligent diagnosis system comprising a data acquisition module, a feature extraction module, a data processing and diagnosis module and a data output module is established; the data acquisition module comprises a medical record information unit, a medical image information unit and an experimental examination information unit; and the feature extraction module comprises a text extraction unit, an image extraction unit and a gene extraction unit. The invention also discloses a construction method of the osteogenesis imperfecta risk assessment model and the osteogenesis imperfecta risk assessment model, and the computer intelligent diagnosis system is helpful for improving the diagnosis level of diseases and promoting the early effective prevention and treatment of the diseases.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a computer intelligent diagnosis system for osteogenesis imperfecta. Background technique [0002] Osteogenesis imperfecta (OI), also known as brittle bone disease, is a monogenic hereditary bone disease (Forlino A, Cabral W A, Barnes A M, et al.New perspectives on osteogenesis imperfecta[J].Nat Rev Endocrino1,2011,7(9):540-57), most of them are autosomal dominant (AD), and a few are autosomal Recessive inheritance (AR), rare X-chromosome sex-linked inheritance. Clinical symptoms mainly include osteopenia, increased bone fragility, recurrent fractures, blue sclera, dentin hypoplasia (DI), laxity of joint ligaments, hearing loss, sarcopenia, short stature, etc. (Kataoka K, Ogura E, Hasegawa K, et al. al. Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients [J]. Pediatr Int, 2007, 49(5): 564-9). OI is an extremely serious disease. Skeletal deformities and movem...

Claims

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Application Information

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IPC IPC(8): G16H50/20G16H50/30G16B20/20G16B20/50G16B20/40
CPCG16B20/20G16B20/40G16B20/50G16H50/20G16H50/30
Inventor 李梅夏维波郑文彬王鸥姜艳
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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