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OBJECTIVE@#To investigate the clinical manifestations, biochemical abnormalities and pathogenic variants among children with Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency detected by neonatal screening.@*METHODS@#A total of 2 730 852 newborns were screened from January 2016 to December 2021 with liquid chromatography tandem mass spectrometry. Suspected SBCAD deficiency patients were diagnosed by urine organic acid analysis and high-throughput gene sequencing analysis. The clinical, biochemical and genetic changes of the confirmed cases were analyzed, in addition with guidance for diet and life management, L-carnitine supplement, and survey of growth and intellectual development.@*RESULTS@#Twelve cases of SBCAD deficiency were diagnosed, which yielded a prevalence of 1/227 571. The lsovaleryl carnitine (C5) of primary screening blood samples was between 0.6 and 2.1 µmol/L, all exceeded the normal range. C5/acety1 carnitine (C2) was between 0.02 and 0.12, with 6 cases exceeding the normal range. C5/propionyl carnitine (C3) was between 0.1 and 1.16, with 5 cases exceeding the normal range. Free carnitine (C0) was between 18.89 and 58.12 µmol, with 1 case exceeding the normal range. Three neonates with abnormal screening results were recommended to have appropriate restriction for protein intake and two were given L-carnitine. During follow-up, their C5 has ranged from 0.22 to 2.32 µmol/L, C5/C2 has ranged from 0.01 to 0.31, C5/C3 has ranged from 0.14 to 1.7. C5 or C5/C2 and C5/C3 were transiently normal in all patients except for case 8 during the neonatal screening and follow-up. C0 was 17.42 ∼ 76.83 µmol/L Urine organic acid analysis was carried out in 9 of the 12 cases, and 2-methylbutyroglycine was elevated in 8 cases. Urine organic acid analysis was carried out in 9 cases, and 2-methylbutyrylglycine was increased in 8 cases. Genetic analysis was carried out for 11 children, and in total 6 ACADSB gene variants were identified, which included 4 missense variants (c.655G>A, c.923G>A, c.461G>A, c.1165A>G), 1 frameshift variant (c.746del) and 1 nonsense variant (c.275C>G). Among these, the C.461G>A variant was unreported previously. The most common variants were c.1165A>G (40.9%) and C.275C>G (22.7%). The patients were followed up for 18 days to 55 months. Only one patient had mental retardation, with the remainders having normal physical and mental development.@*CONCLUSION@#SBCAD deficiency is a rare disease. The detection rate of newborn screening in this study was 1/227 571. Early intervention can be attained in most asymptomatic patients through neonatal screening. In this study, the common gene variants are c.1165A>G and c.275C>G.
Assuntos
Humanos , Recém-Nascido , Erros Inatos do Metabolismo dos Aminoácidos/genética , Carnitina , Triagem Neonatal/métodosRESUMO
Objective@#To explore the epidemiological distribution characteristics of glucose-6-phosphate dehydrogenase (G6PD) activity, incidence of G6PD deficiency in neonates and the cut-off values. @*Methods@#About 1.44 million newborns in 10 districts of Zhejiang province from March 2015 to September 2017 were included in this study. Fluorescence analysis was used to determine the G6PD activity in dried blood spots. Those with initial screening positive results were recalled and confirmed by direct ratio of G6PD to 6PGD (6-phosphogluconate dehydrogenase) to confirm the diagnosis. The results were analyzed by using nonparametric and chi-square tests. @*Results@#Significant differences of G6PD levels were found among the groups of different genders, gestational age, birth weight, blood sampling age, blood sampling season and districts (P＜0.01). The male incidence of G6PD deficiency was significantly higher than female incidence. In different regions of Zhejiang province, the highest prevalence was in Lishui (0.38%) and the lowest was in Zhoushan (0.11%), The trend of high prevalence in the south and low prevalence in the north was basically showed. When the cut-off value of G6PD activity ranged from 2.60 to 2.80 U/g Hb, the sensitivity of G6PD deficiency screening for male and female newborns was 100% and the Youden index was the highest (about 0.99). @*Conclusion@#The level of G6PD activity may be relevant to the factors of population group and period. The incidence of G6PD deficiency may be affected by different genders and different regions. The cut-off values for screening may initially set at 2.60 U/g Hb and 2.80 U/g Hb for male and female respectively.
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Objective To investigate the clinical significance of the level of regulatory T(Treg)cells and indoleamine 2,3-dioxygenase(IDO)in HBV-induced hepatocellar cancinoma.Methods 51 cases of HBV-DNA positive primary liver cancer(HCC),44 cases of chronic hepatitis B(CHB),29 cases of cirrhosis and 28 cases of healthy volunteers(control group)were used RT-PCR and flow cytometry to detect the expression of Treg cells and IDO in peripheral blood of each group.Results The expression of IDO mRNA from high to low were HCC group,CHB group,liver cirrhosis group and control group.The control group and the liver cirrho-sis group were lower than the other 2 groups(P<0.01),and the difference between the other groups was sta-tistically significant(P<0.05).Treg counts from high to low were HCC group,cirrhosis group,CHB group and control group.HCC group was significantly higher than that of control group(P<0.05),except for CHB group,Treg cells in each group were statistically significant compared with control group(P<0.05).The cor-relation analysis of expression of IDO mRNA and Treg:r=0.912,P=0.000,indicating that the expression of IDO in peripheral blood was positively correlated with the Treg cells.Conclusion IDO is over expressed in HCC with the high Treg cell level.Treg cells and IDO may associated with hepatocellular carcinoma immune escape mechanisms.
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Objective To investigate the effect of targeted monitoring on the control of central venous catheter associated infection, study the difference of CVC?RI infection rate and the distribution of pathogenic bacteria in the general hospital and the maternal and child hospital, and analyse the main pathogenic bacteria drug resistance characteristics. Methods From January 2013 to December 2014,685 cases patients with central venous catheterization in the Port Hospital of Hebei Port Group Company Limited,and four cooperative hospitals ( Affiliated Hospital of North China University of Science and Technology, People′s Hospital of Tangshan, Tangshan Port Economic Development District Hospital, Maternal and Child Health Care Hospital of Laoting County) were selected as the research objects. The difference of infection rate before and after the targeted monitoring in 2014 was compared. The tip of the catheter and the peripheral blood were cultured in the patients with suspected infection,bacterial identification and drug sensitivity test were carried out using Compact VITEK2 automatic bacteria identification/drug sensitivity analyzer. Results The infection rate of CVC?RI of five hospitals was 18. 75%( 60/320 ) in 2013, 11. 51%( 42/365 ) in 2014, the difference of infection rate was statistically significant before and after the implementation of the target monitoring(χ2=7. 059,P0. 05). In 102 cases of CVC?RI,105 bacterial strains were detected in 91 cases,gram positive bacteria accounted for 51. 43%( 54/105) ,gram negative bacilli accounted for 40. 95%( 43/105) ,fungi accounted for 7. 62%( 8/105) . There was no significant difference in the proportion of pathogenic bacteria in the general hospital and the maternal and child hospital(P>0. 05). Grampositive cocci were mainly staphylococcus aureus and coagulase negative staphylococci,they were completelysensitive to linezolid, quinupristin/ dalfopristin, tigecycline, and vancomycin. They were high sensitivity torifampicin,while highly resistant to gentamicin, tetracycline, penicillin; Gram negative bacilli were mainlypseudomonas aeruginosa and escherichia coli,they were high sensitivity to meropenem,imipenem,while resistantto multiple antimicrobia1s. Conclusion Adhere to the implementation of targeted monitoring help to reduce theoccurrence of CVC?RI. The isolation of pathogenic bacteria from multiple drug resistance should be paid moreattention.