Method, device and system for detecting and analyzing inherited metabolic diseases of newborns

Abstract

The invention provides a method, device and system for detecting and analyzing inherited metabolic diseases of newborns. An interpretation mode which combines a computer system, a disease database anda doctor is originally created; the tandem mass spectrometry detection result of the inherited metabolic diseases of newborns can be interpreted more quickly and accurately, and an accurate conclusion can be given; the comprehensive datamation of the whole working process is realized; therefore, the interpretation process can be traced back more easily and can be repeatedly compared and researched in the later period, and the situation that retrospective analysis cannot be carried out due to forgetting in the later period of manual interpretation can be greatly avoided. The system adopts a man-machine cooperation mode to realize higher degree of automation, the investment of labor cost is greatly reduced, and with the increase of data volume and the continuous optimization of the system,the tandem mass spectrometry detection result interpretation of the inherited metabolic diseases of newborns is even possible to realize the artificial intelligence interpretation of a computer.

Description

technical field [0001] The invention relates to the field of medical equipment, in particular to a method, device and system for detecting and analyzing neonatal genetic metabolic diseases. Background technique [0002] Inherited metabolic diseases are genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of polypeptides and (or) proteins that are necessary to maintain the normal metabolism of the body, that is, mutations in the genes encoding such polypeptides (proteins) The resulting diseases are also called genetic metabolic abnormalities or inborn errors of metabolism. [0003] The annual birth population in my country is about 16 million to 20 million, of which 400,000 to 500,000 are children with genetic metabolic diseases. The birth of a large number of children with genetic metabolic diseases has brought a huge burden to society and families, and it is bound to cause serious problems. Affects the country's political, ...

AI Technical Summary

Problems solved by technology

There are two problems in this comparison file. Problem 1: Although the judgment strength of clinicians has been reduced to a certain extent, the output results of the comparison file CN201710170285.7 are two types: sick or not, and the output results are too arbitrary. It is not possible to accurately describe the condition of the disease

For example, a genetic metabolic disease is composed of multiple indicators that play different roles, but only one of the indicators is abnormal or a number of auxiliary indicators that do not play a decisive role are abnormal, which does not mean that the child must be sick

Question 2: There is no specific way to build this database

[0006] It can be seen that in the prior art, although some institutions have been equipped with a brief tandem mass spectrometry detection and reporting system for genetic metabolic diseases, they only simply explain the detection indicators and interpret the results without the comparison and analysis of a large database. Unprofessional and very error-prone

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