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In recent years, mass spectrometry methods have been increasingly used in the detection of neonatal genetic metabolic defects, which has brought good news for the early diagnosis and prevention of metabolic diseases in neonates. Regarding the status of neonatal genetic metabolic defect detection and the important role played by mass spectrometry in it, we interviewed the executive director of the Japanese Society for Mass Spectrometry Screening, an expert on congenital metabolic defects, and Professor Shigeru Yamaguchi, Pediatrics of Shimane University School of Medicine.
"Recently, there are more and more calls for diagnosis and detection of diseases from Asian countries. Last year, we received more than 800 requests from China, India, Vietnam, Thailand and Indonesia. In Asia, with the economic development, children inherited Sexual metabolic deficiencies continue to increase. "Shimane University School of Medicine said.
Professor Yamaguchi said: "Congenital metabolic deficiencies are a genetic disease, due to an enzyme related to metabolism failing to function normally at birth, resulting in the accumulation of harmful intermediate metabolites in the body. Accumulated substances Depends on the type of defective enzyme, and will cause various diseases. Many diseases are caused by infection or other reasons, they will cause sudden death of infants, severe brain diseases or delay their growth. "
Professor Yamaguchi mainly studies metabolic abnormalities, including organic acids (intermediate products of amino acid metabolism) and fatty acids (products of fat metabolism). Professor Yamaguchi has previously discovered the cause of beta-ketosulfase deficiency that can cause acute ketosis. His achievements also included being the first to identify VLCAD (very long-chain acyl-CoA dehydrogenase very-long-chaincyl-CoAdehydrogenase) defects, VLCAD defects proved to damage bones and heart muscle. The diagnosis of genetic metabolic defects requires the detection of abnormally accumulated substances in the body. Mass spectrometry is an analytical instrument with the above capabilities, which can separate and identify trace small molecular weight components in urine and blood. Professor Yamaguchi pioneered the use of mass spectrometry to diagnose such metabolic defects in 1980. After that, Professor Yamaguchi received more testing requests, and blood and urine specimens collected on filter paper were sent from China and even abroad.
When talking about the early detection of congenital metabolic defects, Professor Yamaguchi said: "In children with inherited metabolic defects, some conditions can be based on their characteristics by taking special therapeutic milk, drugs or lifestyle changes. Prevention. In other words, early detection (or pre-symptom diagnosis) can effectively prevent some serious health problems, such as severe developmental abnormalities and sudden death. Therefore, the detection technology of trace metabolites is very important. "
Regarding the early detection of congenital metabolic defects, Professor Yamaguchi said: "At present, many countries in the world have realized the importance of early detection, such as many developed countries in Europe and the United States. Metabolite detection is the process of newborn screening One, that is, a small amount of blood is collected for detection immediately after the birth of the newborn. Liquid chromatography-mass spectrometry (tandem mass spectrometry) has recently received widespread attention due to its groundbreaking screening and detection technology. It is sensitive to analyze the target substance from a contaminated sample. LCMS-8030 is a product model of Shimadzu Corporation. It can be used alone to screen many diseases, such as amino acid metabolism disorder, organic acid metabolism disorder or fatty acid metabolism disorder. In the past, it took at least 2 minutes or longer to analyze a single sample, but LCMS-8030 only needs a minute and a half to analyze a single sample, and the detection level is extremely high, requiring only a 3 mm diameter blood sample. " When the Shimadzu mass spectrometer was involved in the conversation, Professor Yamaguchi made a high evaluation: "LCMS-8030 is the same level of analysis as it The instrument with the highest detection sensitivity. It will not miss the test and the false positive rate is very low. It is fortunate for patients and their families because it avoids their excessive worry. "
In Japan, a research team led by Professor Yamaguchi of the Japanese Ministry of Health and Welfare is working on tandem mass spectrometry screening. From 2012 to 2013, the government has decided to use tandem mass spectrometry to screen all newborns for 16 congenital metabolic defects free of charge. "Many people will be tested, so screening must be simple, accurate, and value for money. In order for the public to accept, the government needs to promote the importance of mass spectrometry screening by comparing health care inputs with and without testing "" Professor Yamaguchi said.
Professor Yamaguchi introduced the popularity of mass spectrometry screening: "Since 2000, the economy of Asia has grown significantly. Since the social wealth has accumulated a certain amount, he began to pay attention to reducing children caused by infectious diseases. Death, carefully raising each child, and preventing genetic diseases. Therefore, the use of tandem mass spectrometry for neonatal screening may be popularized in Asia in the near future. Such screening has been carried out in Taiwan, South Korea, Shanghai, Hangzhou, Hong Kong and Singapore. The region has unfolded. Due to ethnic and regional differences in the incidence rate, there is no fixed standard for disease screening. Nevertheless, it is very important to establish a system. With this system, we can thoroughly test and diagnose those screening positive Children and treat them. For this, doctors must determine the cause of the disease being screened, the method of final diagnosis of them, the changes in symptoms and treatment methods. ".
Shimadzu's gas chromatography-mass spectrometer GCMS-QP2010 Ultra can help with daily medical diagnosis, and can be thoroughly tested after screening. The advantage of this instrument is that it is equipped with diagnostic aid software developed by Shimadzu. Even if the operator does not have metabolic expertise or does not understand the working principle of the instrument, the instrument can automatically provide detailed data through GC / MS analysis in a short time (about 1 minute). GCMS-QP2010 Ultra can analyze more than 300 biological metabolic molecules and predict potential pathogens and diseases. Using Shimadzu's technology, the instrument has been used to assist clinical practice.
As a pediatrician, Professor Yamaguchi described the importance of mass spectrometry screening as follows: “Mass spectrometry screening may identify rare diseases in children. However, these sick children have family members. If metabolic disease screening by mass spectrometry can help 100 Children, you can also help 500 family members who live with them. If you expand the scope a little, then screening can help at least 2,000 people. "
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