1. Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou
Fang TANG ; Yonglan HUANG ; Xiang JIANG ; Xuefang JIA ; Bei LI ; Yi FENG ; Qianyu CHEN ; Chengfang TANG
Chinese Journal of Pediatrics 2018;56(5):359-363
Objective:
To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou.
Methods:
G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PD<1 700 U/L or G6PD/6PGD<1 in red blood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA.
Results:
(1) Using the cutoff value of G6PD< 2.6 U/g Hb , a total of 687(4.2%) newborns showed positive screening results, including 560 (6.4%) males and 127(1.7%) females. (2) Among the newborns with positive screening results, 214 males and 122 females were randomly chosen for G6PD gene analysis. The results showed that 197 (92.1%) males were hemizygote and 108(88.6%) females were mutation carriers with one to four alleles. Among the newborns with negative screening results, 41 males with G6PD 2.6-2.8 U/g Hb and 436 females with G6PD 2.6-4.5 U/g Hb were chosen for genetic analysis.Mutations were detected in 5(12.2%)boys, and 226(51.8%) girls were carriers.G6PD gene Sanger sequency of seven highly suspicious patients showed that c.406C>T, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PD<2.6 U/g Hb yielded a positive predict value(PPV) of 93.5%, a false-positive rate of 0.5%, and a sensitivity of 99.0% for males. A PPV of 88.5%, a false-positive rate of 0.2% . The prevalence of severe type G6PD deficiency in females was about 1.5%. Compared with to genetic analysis, the sensitivity and PPV of G6PD activity assay in red blood cells were 95.5%, 97.2%, respectively.
Conclusions
The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will improve the accuracy of diagnosis of G6PD deficiency and detect more heterozygous females.
2.Characteristics of myocardial injury in patients with acute myocardial infarction complicated with pleural effusion and its influence on long-term prognosis
Guangren GAO ; Lianrong FENG ; Jinguo FU ; Run GUO ; Heping NIU ; Fengpeng LI ; Qianyu ZHANG ; Jun ZHANG
Tianjin Medical Journal 2024;52(2):197-201
Objective To explore the characteristics of myocardial injury in patients with acute myocardial infarction(AMI)complicated by pleural effusion and its effect on long-term prognosis.Methods It was a prospective single-center study.Patients with AMI who were admitted to hospital within 15 days from symptom onset and performed echocardiography and cardiac magnetic resonance imaging(CMR)during hospitalization were consecutively enrolled and assigned to the with-pleural effusion group and the without-pleural effusion group according to the echocardiography result.Baseline data,cardiac magnetic resonance myocardial injury index and echocardiography characteristics were compared between the two groups.The occurrence of major adverse cardiovascular and cerebrovascular events(MACCE)was recorded through outpatient follow-up and telephone follow-up,including all-cause death,re-infarction,revascularization,rehospitalization for congestive heart failure and stroke.Cox regression analysis was performed to analyze influencing factors of all-cause death.Results Among 211 patients,31(14.7%)patients had pleural effusion and 180(85.3%)had no pleural effusion.Compared with the group without pleural effusion,the left ventricular end-diastolic diameter was larger,and left ventricular ejection fraction assessed by echocardiography was lower in the group with pleural effusion(P<0.05).There were no significant differences in infarct size,left ventricular end-diastolic volume,left ventricular end-systolic volume,left ventricular ejection fraction and the presence of microvascular obstruction and intramyocardial hemorrhage between the two groups in CMR(all P>0.05).At a median follow-up of 31 months,MACCE occurred in 43(20.4%)patients,and there was no significant difference between the two groups(χ2=3.160,P=0.075).Six cases(2.8%)had all-cause death.The incidence of all-cause death was higher in the group with pleural effusion than that in the group without pleural effusion(9.7%vs.1.7%,P<0.05).There was no significant difference in the incidence of other adverse events between the two groups(P>0.05).Multivariate Cox regression analysis showed that advanced age and presence of pleural effusion were independent risk factors of all-cause death during follow-up.Conclusion Patients with AMI combined with pleural effusion have more severe myocardial injury and higher all-cause mortality.
3.Diagnostic value of biparametric MRI radiomics in Gleason classification of prostate cancer
Lulu LIU ; Feng XU ; Mengmeng ZHU ; Chaomin CEN ; Jinfeng SHI ; Rui WANG ; Qianyu WANG
Journal of Practical Radiology 2024;40(7):1121-1124
Objective To explore the value of biparametric magnetic resonance imaging(bp-MRI)radiomics models in noninvasive prediction of high-risk prostate cancer.Methods A total of 320 patients with pathologically confirmed prostate cancer were retro-spectively selected,and all patients underwent bp-MRI before pathology,including T2WI and diffusion weighted imaging(DWI).Appar-ent diffusion coefficient(ADC)maps were extracted from DWI.All patients were divided into high-risk(Gleason score≥8)and medium-low risk(Gleason score ≤7)groups based on the Gleason score.Using 3D Slicer software,the entire prostate gland was outlined.Python software was used to calculate parameters,and the minimum redundancy maximum correlation and sequence back-ward elimination algorithms were used to extract and select radiomics features and to build a model.Three radiomics(T2 WI,DWI,ADC)models were constructed and verified by logistic regression(LR).The performance of the model was evaluated by area under the curve(AUC)of receiver operating characteristic(ROC)curve,specificity(SP),sensitivity(SE),and accuracy(ACC).An indi-vidual prediction model was established via the clinical data of 224 patients and bp-MRI features,and validated via the data of 96 patients.Results A total of 1 165 radiomics features were extracted.After feature screening,2,4 and 6 radiomics features were screened out to construct T2WI model,DWI model and ADC model for predicting high-risk prostate cancer.All radiomics models had significant predictive performance in identifying medium-low risk and high-risk groups(P<0.05).The DWI model had the highest predictive value,and the AUC,ACC,SE,and SP in the training group were 0.814,0.756,0.838,and 0.744,respectively.The AUC,ACC,SE,and SP in the verification group were 0.840,0.756,0.848,and 0.784,respectively.Conclusion Radiomics based on bp-MRI can better identify medium-low risk and high-risk prostate cancer before surgery.
4.Bacterial pathogen spectrum and drug resistance in respiratory intensive care unit in 2020- 2022
Juan LI ; Tu LYU ; Lina FENG ; Qianyu FENG ; Yun HUANG ; Congrong LI ; Xuan CAI
Journal of Public Health and Preventive Medicine 2024;35(6):89-92
Objective To understand the infectious pathogen characteristics and drug sensitivity of hospitalized patients in the respiratory intensive care unit (RICU) of Renmin Hospital of Wuhan University. Methods Bacterial culture samples sent to the RICU of our hospital from January 2020 to December 2022 were retrospectively analyzed. The bacterial types were identified by Bruker mass spectrometer, and the Phoenix 100 was used for drug sensitivity analysis. The antimicrobial susceptibility was analyzed by WHONET 5.6 software. Results A total of 1 157 strains of bacteria were isolated, including 878 strains of Gram-negative bacteria (75.89%) and 279 strains of Gram-positive bacteria (24.11%). The top five with the highest detection rate were Acinetobacter baumannii (25.50%), Pseudomonas aeruginosa (18.76%), Klebsiella pneumoniae (13.83%), Staphylococcus aureus (6.57%) and Escherichia coli (5.70%). Among them, Acinetobacter baumannii was extremely drug-resistant, only showing relatively high sensitivity to colistin, minocycline, and tigecycline. Staphylococcus aureus accounted for the highest proportion of Gram-positive bacteria (6.57%), with methicillin-resistant Staphylococcus (MRSA) showing a continuous increase. Conclusion In the past three years, Gram-negative bacteria have been the main pathogenic bacteria detected in the respiratory intensive care unit of our hospital. The main bacteria are Acinetobacter baumannii, Pseudomonas aeruginosa, and Klebsiella pneumoniae, which have a high resistance rate to various antibiotics. Therefore, clinical monitoring of resistant strains in RICU should be strengthened to facilitate rational use of antibiotics and improve antibacterial effect.
5.Consistency analysis of serum viral specific antibody against respiratory viruses and nucleic acid determination tests in children with community acquired pneumonia
Qianyu FENG ; Lijuan YANG ; Hongwei ZHAO ; Yun ZHU ; Zhengde XIE ; Lili XU
Chinese Journal of Experimental and Clinical Virology 2022;36(2):150-154
Objective:To investigate the consistency between the results of serum specific antibodies to respiratory viruses and the nucleic acid tests in children with community acquired pneumonia, and to guide clinical application of these tests.Methods:Data of 109 cases of children with community acquired pneumonia diagnosed as viral infection by real-time fluorescence quantitative PCR from nasopharyngeal swab specimens were collected. Their acute and convalescent serum specimens were collected and used to detect common respiratory viruses (respiratory syncytial virus, adenovirus, influenza A virus, influenza B virus and parainfluenza virus) specific IgM antibodies by indirect immunofluorescence method . The consistency between the results of virus serum specific antibody test and respiratory virus nucleic acid test was analyzed.Results:Among the 109 cases of community-acquired pneumonia patients with positive respiratory virus nucleic acid test, 14 cases (12.8%) were positive for virus specific IgM in the acute stage. Combining the results of serum virus specific antibody detection in the acute and convalescent phases, 17 cases (15.6%) were positive for virus specific IgM antibody. Consistency analysis showed that the acute phase serum specific IgM antibody test results of respiratory syncytial virus, adenovirus, influenza A virus, influenza B virus and parainfluenza virus were compared with the nucleic acid test results of respiratory specimens, and Kappa values were -0.033, -0.003, 0.053, -0.024, -0.053, respectively. Compared with the nucleic acid test results of respiratory tract specimens and the total serum specific IgM test results of respiratory syncytial virus, adenovirus, influenza A virus, influenza B virus and parainfluenza virus in the acute and convalescence stages, Kappa values were 0.040, -0.053, 0.065, -0.030 and -0.018, respectively. Kappa values were all less than 0.4, indicating that the consistency of detection results of the two methods is poor.Conclusions:The results of serum virus specific IgM antibody detection in children with community acquired pneumonia are poorly consistent with the results of viral nucleic acid detection in respiratory specimens, suggesting that serum virus specific antibody detection with the immunofluorescence method may not be suitable for the diagnosis of viral pathogens in children’s community acquired pneumonia.