Objective To explore the application value of liquid chromotography tandem mass spectrometry (LC-MS/MS) in screening of inherited metabolic disease risk children ,and to provide a reference for the scientific prevention and control .Methods 246 cases of patients with inherited metabolic children blood samples were collected through the blood spots ,LC-MS/MS was used to examine blood samples from high risk cases of inherited metabolic who came from general hospital of Ningxia medical university . Results 30 cases were confirmed with inherited metabolic disease by the LC-MS/MS ,the positive rate was 12 .2% ,including 9 ca-ses of methylmalonic academia ,4 cases of isovaleric acidemia ,6 cases of phenylketonuria ,2 cases of propionic acidemia ,2 cases of citrullinemia ,1 cases of very long-chain acyl-CoA dehydrogenase ,1 cases of mitochondrial trifunctional protein deficiency ,1 cases of maple syrup urine disease ,3 cases of homocystinuria ,2 cases of argininesuccinic aciduria .Conclusion Liquid chromatography tan-dem mass spectrometry(L-MS/MS) technology is highly efficient and high reliability method in screening inherited metabolic dis-ease .

Objective To investigate the incidence of enteric pathogens causing acute gastroenteritis (AGE) among children to measure the incidence of coinfections,and to compare the clinical characteristics of those infected with one versus multiple agents.Methods A retrospective study was conducted from January 2014 to December 2014.All patients between 1 month and 14 years of age admitted to the Pediatric department with a diagnosis of AGE were eligible for enrollment.Two stool samples for each patient were tested for gastrointestinal pathogens.We summarized the clinical severity of episodes,describing the duration of diarrhea,duration and frequency of vomiting,fever.All patients underwent medical evaluation with estimation of dehydration.Results One or more etiological agents were detected in 3595 out of 4728 patients(76.0％),while we did not detect any etiological agent in 1133 (24.0％).Rotavirus was detected in 1889 (40.0％),adenovirus in 412 (8.7 ％),norovirus in 309 (6.5 ％),verotoxigenic Escherichia coli (VTEC) in 274 (5.8 ％),Salmonella spp.in 276(5.8％),Klebsiella pneumoniae in 123 (2.6％),Shigella spp.in 78 (1.6％),Staphylococcus aureus in 70 (1.5％),C.perfringens in 126(2.7％).In 1370 children out of 4728(29.0％),we found evidence of coinfection.with rotavirus and norovirus was the most common 150 (3.2％),rotavirus and C.perfringens was also common 127(2.7％).Children with coinfection had a more severe clinical presentation.The difference has statistical significance.Conclusion Rotavirus is still the most common pathogen in children with acute diarrhea,followed by NV,adenovirus,Salmonella spp.and VTEC.Rotavirus with norovirus infection was the most common.VTEC combined with three kinds of virus infection had the highest incidence.Children with multiple viral infections were more severe than those of single virus infection in the duration of vomiting and dehydration.There was no significant difference in the duration of fever and diarrhea and the frequency of diarrhea.Children infected by viruses and bacteria had a more severe clinical presentation such as fever,vomiting and diarrhea lasting for a long time,more serious diarrhea and dehydration than those with single bacteria and single virus infection.The difference has no significant difference in degree and duration of diarrhea.

Objective To study the mutation characteristics in phenylalanine hydroxylase gene of Xinjiang minority nationality phenylketonuria (PKU) patients and provide a scientific basis for PKU prevention and cure strategy.Methods Mutations in phenylalanine hydroxylase gene were detected by Dolymerase chain reaction-single strand comformation polymorphism (PCR/SSCP) and gene sequencing in 12 minoritv nationality patients.Results Thirteen different mutations,including 8 missense mutations,1 nonsense mutation and 3 splice mutations were found in 24 alleles.The moat common mutations were EX696A＞G and P281 L.which were respectively prevalent in Asia and Europe populations.The common mutations were R243Q,R111X,R176X and F161S.The mutation frequency of R243Q was the highest and R111X was the third highest in Northern China.R176X and F161S were two rare mutations world wide.Especially.F161S was a Chinese-specific mutation because it was for the second time that it was found in China.The mutations detected in this study were first reported in these 3 minority nationality populations,which showed a distinct ethical characteristic.Condusions There is not only a consanguineous relation but also a distinct difference in PAH gene distribution between Xinjiang minority nationality population and yellow race and Latin-American.The results suggest that Xinjiang could probably be a special PAH gene distribution region.

Objective: Using updated population-based cancer registration (PBCR) data, we estimated nation-wide liver cancer statistics overall, by sex and by areas in China. Methods: Qualified PBCR data of liver cancer in 2015 which met the data quality criteria were stratified by geographical locations, sex, and age groups. Age-specific incidence and mortality rates by sex and area were calculated. The burden of liver cancer was evaluated by multiplying these rates by the year of 2015 population. Chinese standard population in 2000 and World Segi′s population were used for the calculation of age-standardized rates (ASR) of incidence and mortality. Results: Qualified 368 cancer registries covered a total of 309 553 499 populations in China, accounting for 22.52% of the national population. It is estimated that there were 370 000 new cases (274 000 males and 96 000 females) of liver cancer in China. The age-standardized incidence rates by Chinese standard population (ASR China) and World Segi′s population (ASR World) were 17.64 per 100 000 and 17.35 per 100 000, respectively. Rural areas showed higher incidence (ASR China: 20.07 per 100 000, ASR World: 19.67 per 100 000) than urban areas (ASR China: 15.90 per 100 000, ASR world: 15.67 per 100 000). Subgroup analysis showed that western areas of China had highest incidence rate of liver cancer, with the ASR China of 20.65 per 100 000 and 20.22 per 100 000 for ASR world, respectively. For new cases of liver cancer deaths, there were 326 000 new deaths (242 000 males and 84 000 females) in China, with age-standardized mortality rate by Chinese standard population and World Segi′s population of 15.33 per 100 000 and 15.09 per 100 000, respectively. Rural areas showed higher mortality (ASR China: 17.17 per 100 000, ASR world: 16.86 per 100 000) than urban areas (ASR China: 14.00 per 100 000, ASR World: 13.81 per 100 000). Conclusions There is still a heavy burden of liver cancer in China. Rural residents have higher incidence and mortality of liver cancer compared with urban counterparts. It is likely that many factors such as hepatitis virus infection, and aflatoxin exposure play a dominating role. Prevention and control strategies should be enhanced in the future.