Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine / 浙江大学学报·医学版

OBJECTIVES@#To investigate the genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine (C4).@*METHODS@#One hundred and twenty neonates with increased C4 levels detected by tandem mass spectrometry in the neonatal screening at Children's Hospital, Zhejiang University School of Medicine from January 2018 to June 2023 were included. The initial screening data and recalled data of C4 and C4/C3 were collected and converted into multiples of C4 reference range. Next generation sequencing was performed and the exons with adjacent 50 bp regions of ACAD8 and ACADS genes were captured by liquid phase capture technique. Variant information was obtained by bioinformatic analysis and the pathogenicity were classified according to the American College of Medical Genetics and Genomics criteria. The Wilcoxon rank sum test was used to analyze the differences in C4 levels among neonates with different variation types.@*RESULTS@#In total, 32 variants in ACAD8 gene were detected, of which 7 variants were reported for the first time; while 41 variants of ACADS gene were detected, of which 17 variants have not been previously reported. There were 39 cases with ACAD8 biallelic variations and 3 cases with ACAD8 monoallelic variations; 34 cases with ACADS biallelic variations and 36 cases with ACADS monoallelic variations. Furthermore, 5 cases were detected with both ACAD8 and ACADS gene variations. Inter group comparison showed that the multiples of C4 reference range in initial screening and re-examination of the ACAD8 biallelic variations and ACADS biallelic variations groups were significantly higher than those of the ACADS monoallelic variations group (all P<0.01), while the multiples in the ACAD8 biallelic variations group were significantly higher than those in the ACADS biallelic variations group (all P<0.01). The multiples of C4 reference range in the initial screening greater than 1.5 times were observed in all neonates carrying ACAD8 or ACADS biallelic variations, while only 25% (9/36) in neonates carrying ACADS monoallelic variations.@*CONCLUSIONS@#ACAD8 and/or ACADS gene variants are the main genetic causes for elevated C4 in newborns in Zhejiang region with high genotypic heterogeneity. The C4 levels of neonates with biallelic variations are significantly higher than those of neonates with monoallelic variations. The cut-off value for C4 level could be modestly elevated, which could reduce the false positive rate in tandem mass spectrometry neonatal screening.

Etiological detection and epidemiological analysis of children with influenza-like illness / 中华检验医学杂志

Objective:To analyze the status and epidemiological characteristics of respiratory virus infection in children with influenza-like illness in outpatient department, and to provide evidence for the prevention and treatment of children in this area.Methods:Nasopharyngeal swab samples were collected from children who attended the fever clinic of The Children′s Hospital, Zhejiang University School of Medicine due to influenza-like illness from July 2021 to March 2022, and six common respiratory virus nucleic acids were detected by reverse transcription-polymerase chain reaction (RT-PCR). The general information of the children was collected and grouped by gender and age (0-<6 months, 6-<12 months, 1-3< year-old, 3-<6 year-old , and ≥6 year-old), and the chi-square test was used for statistical analysis between the groups to explore the epidemic pattern of respiratory viruses.Results:A total of 739 cases (45.9%, 739/1 609) of respiratory viruses were detected from children with influenza-like illness, including 651 cases (40.5%, 651/1 609) of simple infection and 88 cases (5.5%, 88/1 609) of multiple infections. Respiratory syncytial virus (RSV) was detected in 18.6% (300/1 609), followed by influenza B virus (FluB) in 11.9% (192/1 609), adenovirus (ADV) in 8.3% (134/1 609), parainfluenza virus type 3 (PIV-3) in 7.6% (123/1 609), parainfluenza virus type 1 (PIV-1) in 4.9% (79/1 609), and influenza A virus (FluA) in 0.4% (6/1 609). Multiple infections including double or triple infections, with 81(92.0%, 81/88) cases of double infection and the most common being ADV+RSV (22.7%, 20/88) and 7 (8.0%, 7/88) cases of triple infection. There was a significant difference in the virus detection rate between the age groups (χ2=17.078, P=0.002), with the highest virus detection rate in the 3-<6 years of age group (49.7%, 286/575). Among the detection of simple infection, FluB had the highest detection rate in the ≥ 6 years of age group (26.6%, 98/369), and RSV and PIV-1 had the highest detection rate in the 3-<6 years of age group (20.0%, 115/575 and 5.9%, 34/575). The total monthly virus detection rate increased from 26.8% (37/138) in July to 63.0% (58/92) in January, and decreased to 46.1% (106/230) and 26.8% (37/138) in February and March. The detection rate of RSV was the highest from August to November, the detection rate of FluB was the highest from December to March, the detection rate of ADV increased in December and January, and the detection rate of PIV-3 increased from October to December; the detection rate of PIV-1 did not fluctuate significantly, and FluA was sporadically detected. Conclusions:RSV is the main respiratory virus in children with influenza-like illness. Most respiratory viruses are present as single infections. Multiple infections are more common in double infections. FluB, RSV and PIV-1 infections showed certain age distribution characteristics, especially in children over 3 years of age. The epidemic characteristics of respiratory virus infection show that the epidemic gradually peaks from summer to autumn and winter, and turns into an epidemic decline in spring. RSV was relatively prevalent in autumn, FluB was prevalent in winter and spring, ADV and PIV-3 were prevalent to varying degrees in winter, PIV-1 continued to circulate at a low level, and FluA did not present epidemic characteristics.

Preparation of an electronic moxibustion apparatus which simulates the mechanism of traditional moxibustion:application security and environmental effects / 中国组织工程研究

BACKGROUND:An electronic moxibustion apparatus that simulates the mechanism of traditional moxibustion therapy is designed and developed to overcome shortcomings of traditional moxibustion therapy, such as non-standardized treatment, limited body position, and production ofsmokeandashduring the treatment. OBJECTIVE:To develop a kind of electronic moxibustion apparatus which simulates the traditional moxibustion therapy and has obtained the patent so as to industrialize and modernize moxibustion therapy. METHODS:Bio-waves launched from far infrared materials are beneficial to the human body. An electronic moxibustion apparatus including time temperature control er and moxibustion head was developed, and the closed loop control technique was used to precisely control the temperature and time. Thermal radiation infrared spectrum that moxibustion head generated could simulate the emission spectrum of moxibustion in combination with wormwood oil coating or drug interval, thereby achieving the therapeutic effect similar to traditional moxibustion. RESULTS AND CONCLUSION:The prototype of DZWJY-1 electronic moxibustion instrument has been developed and its safety and electromagnetic compatibility have been detected in Shanghai Testing&Inspection Institute for Medical Devices, China. Relevant clinical trials are ongoing to verify the efficacy. Preliminary clinical evidence shows that the electronic moxibustion apparatus has the same therapeutic effect to the traditional moxibustion therapy, which realizes the safety and environmental protection of moxibustion therapy and provides objective, standardized and modernized evidence for moxibustion therapy

Use of sentinel animals for the microbiological monitoring program in laboratory rats and mice / 中国比较医学杂志

It is very important to establish and execute the all -sided experimental animal quality monitoring in order to guarantee human health , animal health and welfare as well as the authenticity , validity, and repeatability of the experimental research results.Setting corresponding sentinel animals in the experiment can effectively monitor the quality of experimental animals.This article gives a general review of the selection of sentinel rats in the microbiological quality monitoring of the experiment animals , contact form and time between the sentinel rats and the rats being monitored , the placement of sentinel rats, and the number of rat cages being monitored by each cage of sentinel rats , as well as the test quantity, test frequency and the project.

Analysis of Prognostic Factors of 108 Patients with Non-Hodgkin's Lymphoma / 中国肿瘤临床

Objective: To analyze the prognostic factors of non-Hodgkin's lymphoma(NHL)and to investigate the prognostic value of peripheral blood absolute lymphocyte count(ALC)at admission for patients with NHL. Methods: Clinical features and follow-up data of 108 patients with pathologically confirmed NHL seen in our hospital between January 2000 and January 2008 were reviewed.SPSS14.0 package was used for statistical analysis.Kaplan-Meier was applied to assess the survival probability.All parameters statistically significant concluded by univariate analysis were then computed as co-variates for multivariate analysis with Cox regression model. Results: The ratio of males to females was approximately 1.5:1.The median age of patients was 48 years.Before treatment.the Ann Arbor clinical classification showed that 61.1% of the cases were of stage Ⅰ and Ⅱ.Approximately 93%of the patients had ECOG performance status(PS)score of 0-1 and 19.2%of the cases had elevated serum lactate dehydrogenase(LDH).According to intemational prognosis index score.80.6%of the patients were in a low risk group.At admission，35.2%of the cases had ALC≤1×10~9/L.Hemoglobin (Hb)≤110g/L and B symptoms were seen in 29.6%and 26.9%of the patients.The mean Hb was 129.2±17.5g/L in cases with ALC>1×10~9/L(n=70)and 98.1±20.6g/L in cases with ALC≤1×10~9/L(n=38),with a statistically significant difference between the two groups(P<0.05).With a median follow-up duration of 2 years，the median overall survival(OS)time was 2.3 years for all patients.The 2-year and 5-year OS rates were 73.2%and 39.6%，respectively.ALC≤1×10~9/L,Hb≤110g/L,B symptoms and intemational prognostic index(IPI)≥2 were statistically significant unfavorable prognostic factors for NHL revealed by univariate analysis.Multivariate analysis showed that ALC≤1×10~9/L,B symptoms and IPI ≥2 were statistically significant unfavorable prognostic factors for NHL. Conclusion: ALC and B symptoms may be prognostic factors independent of IPI for NHL.Evaluation of the prognosis with IPI,ALC，and B symptoms is of clinical value for individualized therapy of NHL patients.

The Changes of Gene Expression Profiling in HL-60 Cells Treated by Chan'su / 中国医师杂志

Objective To study the changes of gene expression profiling in HL-60 cells treated by Chan'su, and the possible mechanisms of Chan'su-induced apoptosis in HL-60 cells. Methods Apoptosis was determined by morphology and agarose gel electrophoresis of DNA fragmentation. The changes of gene expression profiling were detected with DNA microarray. Results 1%(v/v) Chan'su could obviously induce HL-60 cells apoptosis. In the tested 1152 genes, mRNA expression levels of 9 genes changed prior to apoptosis in Chan'su-treated HL-60 cells. Of the 9 genes, 8 gene mRNA levels were up-regulated and 1 gene mRNA level was down-regulated. Conclusion Apoptosis in HL-60 cells treated by Chan'su was involved in many genes. Bcl-2 down-regulation and IL-8 up-regulation were closely correlated with the Chan'su-induced HL-60 cells apoptosis.

EFFECT OF ZINC SUPPLEMENTATION ON EXPRESSION OF METALLOTHIONEINS MT-1 AND MT-2 mRNA IN PLACENTA AND SMALL INTESTINE OF PREGNANT RATS / 营养学报

Objective: To investigate the effect of zinc supplementation on expression of MT-1 and MT-2 mRNA in placenta and small intestine of pregnant rats. Method: Eighteen healthy pregnant SD rats were randomly divided into two groups,normal control (ZC) and zinc supplement group (ZS). Rats in both groups were fed the same normal diet. Rats in ZC group drank deionized water and those in ZS group drank the water supplemented with 1.26 mmol/L Zn. At gestational 9.5d and 17.5d, serum zinc was determined by atomic absorption spectrophotometer and the expression of MT-1 and MT-2 mRNA of placenta and small intestine was examined by RT-PCR. Results: Serum zinc levels at gestational 9.5d and 17.5d were higher in ZS group. Relative expression of both MT-1 and MT-2 mRNA in placenta, MT-1 mRNA at gestational 17.5d and MT-2 mRNA at each time point were higher in ZS group. At gestational 9.5d, there was no difference between two groups in expression of MT-1 mRNA. Conclusion: The expression of MT-1 and MT-2 mRNA in placenta and small intestine was up-regulated by dietary zinc supplementation during pregnancy.