Inborn the intersection of A and low disease and the

Inborn the intersection of A and low disease and the intersection of benzene and the intersection of acetonuria and disease study and obtain progress
It is reported ' The intersection of special correspondent and happy the intersection of reporter and Wang XueFei Yu) Learn Vice Chairman, national neonate sift, check, study subsidiary Professor, speech of Zheng, Zhao, director of children, group leader of group and medical college of Zhejiang University, head the list of signers by the intersection of Chinese and pediatrics, the ones that are lasting completion of 10 " The inborn thyroid gland function bows sieve checking and foundation and clinical research of disease and benzene acetonuria disease " Obtained first prize of Award for Secinece and Technology of Zhejiang Province a few days ago.

Thyroid gland function bow disease, commonly called as cretinism, because thyroid gland hormone synthetic and enough, lead to the fact the infant grows slowly, intelligence lags behind. Benzene acetonuria disease is a kind of inborn amino acid supersession obstacle disease, once internal third amino acid of benzene is accumulated too much, will cause low, physical development obstacle of infant's intelligence,etc..

Through efforts of 10 years, Professor,etc. of Zheng speech scientific research personnel Zhao, know inborn the intersection of thyroid gland and function bow disease and the intersection of benzene and morbidity and epidemiology characteristic, acetonuria of disease for the first time. Have taken the lead in carrying on the inborn thyroid gland function and bowing disease and benzene acetonuria disease gene mutation to study at home, having found 22 kinds of gene mutation, among them 3 kinds of sudden change are the first discovery in the world, a kind of sudden change is our country's first discovery, enrich the relevant gene mutation table. Through a large number of foundations and clinical research, have expounded the inborn thyroid gland function bows the relevant damage mechanism to the heart, brain function of of acetonuria of disease and benzene. The seminar should save 11 pieces of ground and 84 administrative centers at county level at city level, 1276 to meet and produce the neonate that the unit makes up to sift and check the system of running of the network while establishing. Independent development sifts and checks the procedure management, laboratory quality control and information-based platform following up a case by regular visits to to treat, 4 items of management software obtain the national copyright to register. Knowing the function of thyroid gland of Zhejiang Province bows the epidemiology characteristics of disease and benzene acetonuria disease, have offered basis for studying and intervening first grade.

According to the introduction of Zhao ZhengYan, the sieve set up in Zhejiang Province checks that makes a definite diagnosis of the positive infant to track that follows up a case by regular visits to the network, can notify the suspicious positive baby's guardian, supervise it to get to make a definite diagnosis of and treat the organization to make a definite diagnosis of within stipulated time in time, in follow up a case by regular visits to treat, paying guidance in time.

It is reported, by 2009, newborn child's illness of Zhejiang Province will sift checking the centre sifts and checks to nearly 4 million neonates together, it is up to 97.17%, make 2456 inborn thyroid gland functions bow disease and benzene acetonuria disease infant and is treated and cured in time to sift the checking rate, avoid suffering from serious intellectual disturbance. Nearly 4 million neonatal filter paper blood samples collected, have already become the domestic largest biological sample storehouse, have offered abundant biological sample resources for studying in epigenetics,etc..



Inborn the intersection of A and low disease and the intersection of benzene and the intersection of acetonuria and disease study and obtain progress