Objective To determin the amino acids in silkworm extract by High Performance Liquid Chromatography with Precolumn Derivatization.Methods With the technology of precolumn derivatization, along with high performance liquid DABS-CL and a high-efficiency YMC-Pack ODS-A column(250?4.6mm, 5 ?m), with mobile phase being A:25mol/L KH2PO4 and B: acetonitrile : methyl alcohol =70:30, at flow rate of 1.5 ml/min, peaks were detected at 436nm and column temperature being 35℃.Results All kinds of amino acids have a nice linear relations (r=0.9989~0.9999), precision (RSD

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency. METHODS: Following extraction of genomic DNA, all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants on protein function. RESULTS: DNA sequencing showed that the proband carried a homozygous g.6753-6755delACA deletion (p.252delAsn) in exon 9 of the F12 gene, for which her father, mother and brother were heterozygous carriers. The same deletion was not found in her sister. CONCLUSION The homozygous p.252delAsn deletion probably underlies the hereditary FXII deficiency in this pedigree.

Objective: To analyze the burden indicators and trend predictions of eating disorders in Chinese adolescents aged 10-24 years from 1990 to 2019, so as to provide a reference for the prevention and control of eating disorders among adolescents. Methods: According to the latest data of the Global Burden of Disease Study(GBD) 2019 database classified by gender, age group and other indicators, the Joinpoint regression model and bayesian age period cohort model(BAPC) were used to analyze and predict the incidence rate, prevalence and disabilityadjusted life year (DALY) rate of eating disorders among Chinese adolescents aged 10 to 24 years old, and explore the trend of the disease burden of eating disorders in this population in the past three decades. Results: From 1990 to 2019, the overall crude incidence rate of eating disorders among adolescents in China increased from 278.93/105 to 422.27/105, and the crude incidence rate increased from 122.63/105 to 198.80/105, and the crude DALY rate increased from 26.67/105 to 43.50/105. In terms of gender, the standardized incidence rate, standardized prevalence rate and standardized DALY rate of eating disorders of boys and girls all showed an upward trend（boys：AAPC=1.52%，1.84%，1.86%，girls：AAPC=1.28%，1.74%，1.77%，P＜0.05）. The standardized incidence rate, standardized prevalence rate and standardized DALY rate of boys with eating disorders (54.97%, 68.88%, 69.75%) were higher than those of girls (44.26%, 64.48%, 65.56%), and the differences were statistically significant (χ2=201.45, 35.02, 34.55, P<0.05). In terms of age groups, the incidence rate of the 15-19yearold age group (524.10/105) was higher than that of other age groups (10-14yearold age:251.17/105, 20-24yearold age:476.49/105) (χ2=156.87, P<0.05), the prevalence rate of the 20-24yearold age group (278.67/105) and the DALY rate (60.83/105) were higher than those of other age groups (10-14yearold age:81.79/105,18.02/105, 15-19yearold age:221.81/105,48.59/105) (χ2=204.50,197.14, P<0.05). BAPC prediction model showed that in the future, the incidence rate of eating disorders among adolescents in China would still show an upward trend, but the prevalence rate and DALY rate would show a steady downward trend, which might reach 516.43/105, 188.41/105 and 41.23/105 respectively in 2030. Conclusions The burden of eating disorders among adolescents in China continues to increase, with boys and those aged 15-19 years being the key populations for prevention and treatment. All sectors of society should actively take relevant measures and pay attention to the prevention and treatment of adolescent eating disorders.

Objective:To establish an HPLC method for the determination of N,N'-diacetyl-L-cystine in com-pound amino acid injection.Methods:The HPLC method parameters were as follows,The Atlantis dC18 column(4.6 mm × 150 mm,3 μm),The mobile phase was aammonium formate solution(315 mg ammonium formate was taken and dissolved with 960 mL water)-acetonitrile-methanoic acid(970∶30∶1)as a mobile phase,at a flow rate of 0.7 mL·min-1,and the detection wavelength of 210 nm.Results:The linear range of N,N'-diacetyl-L-cystine was 2.697-53.94 μg·mL-1(r=0.999 9),the limits of detection and quantification were 1.4 μg·mL-1 and 4.4 μg·mL-1 respectively.The average recovery was 100.2％with RSD of 0.5％.Conclusion:The method was proved to be suitable for the determination of N,N'()-diacetyl-L-cystine in compound amino acid injection.

Objective:Based on the data compilation and analysis of the disease burden of esophageal cancer attributed to alcohol consumption in China over the past three decades(1990-2019),this study aims to explore how to strengthen the formulation and management of public health policies to control the disease burden caused by this disease. Methods:Based on the data from the Global Burden of Disease(GBD)2019 study database,indicators such as mortality rate and disability-adjusted life years(DALYs)were used to assess the disease burden of esophageal cancer attributed to alcohol consumption in China.Joinpoint regression software and the age-period-cohort model were employed to analyze the trends in disease burden and mortality rates over time by age,period,and cohort.Bayesian age-period-cohort analysis was used to predict the mortality rates of esophageal cancer attributed to alcohol consumption in China from 2020 to 2030. Results:From 1990 to 2019,the number of deaths from esophageal cancer attributed to alcohol consumption increased from 33 800 cases to 61 900 cases,while the standardized mortality rate decreased from 3.95 per 100 000 to 3.04 per 100 000.DALYs increased from 934 000 person-years to 1 512 600 person-years,and the DALYs rate decreased from 101.36 per 100 000 to 71.39 per 100 000.In 2019,both the number of deaths and DALYs reached their peak in the age group of 65-69 years with 58 800 deaths and a standardized mortality rate of 6.21 per 100 000 for males,and 3 100 deaths and a standardized mortality rate of 0.31 per 100 000 for females.Both the mortality rates and the DALYs rates increased with age.The Joinpoint regression analysis showed that the average annual percentage change(AAPC)of mortality rates attributed to alcohol consumption-related esophageal cancer was-0.97%[95%confidence interval(CI):-1.2%--0.8%],with an AAPC of-2.32%(95%CI:-2.6%--2.1%)for females and-0.81%(95%CI:-1.0%-0.6%)for males.The age-period-cohort analysis of mortality rates attributed to alcohol consumption-related esophageal cancer showed a net drift of-1.301%(95%CI:-1.577%--1.025%,P＜0.05).It is predicted that the burden of esophageal cancer mortality attributed to alcohol consumption will steadily increase during the period of 2020-2030. Conclusion:Compared to the overall trend of esophageal cancer burden,the burden of esophageal cancer attributed to alcohol consumption is declining at a slower rate.The burden of the disease is higher in the male population than that in females,and higher in the middle-aged and elderly population compared to the younger population.It is expected that in the coming years,the burden of esophageal cancer mortality attributed to alcohol consumption in China will steadily increase,suggesting that while focusing on the intervention for males and the middle-aged and elderly population,relevant departments should also strengthen health education in the entire population,formulate public health policies,and raise awareness of early prevention and risk factors of esophageal cancer among residents.

were no significant differences in the detection rate of recto-sigmoid colon,mid colon,right colon and total detection of polyps among the 3 groups (P >0.05).Conclusion 4-L split-dose PEG is better than the oth-er 2 regimens in the colon cleansing quality,so it can better reach the intestinal cleaning standards before enteroscopy,which is a more suitable regimen for bowel preparation.

OBJECTIVE: To analyze the clinical phenotypes and genetic variants of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency. METHODS: A pedigree presented at the First Affiliated Hospital of Air Force Medical University on December 24,2021 was selected as the study subject. Activated partial thromboplastin time (APTT) and coagulation factor Ⅻ activity (FⅫ:C) were determine by a clotting method, and FⅫ antigen was detected with an ELISA assay. Following the extraction of genomic DNA, all exons and flanking regions of the F12 gene were subjected to Sanger sequencing. Clustalx-2.1-win, PROVEAN and Swiss-PDB Viewer software was used to analyze the conservation of amino acids at the variant sites, impact of of the variants on the amino acid substitutions and the protein structure. RESULTS: The APTT of the proband has prolonged to 70.2 s. Her FⅫ:C and FⅫ:Ag have decreased to 12% and 13%, respectively. DNA sequencing revealed that the proband has harbored c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) heterozygous compound missense variants in exons 5 and 13 of the F12 gene, respectively. Her father and sister were heterozygous carriers for the c.346G>A (p.Gly97Ser) variant, whilst her mother and brother were heterozygous for the c.1583C>A (p.Ser509Tyr) variant. CONCLUSION The c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) compound heterozygous variants of the F12 gene probably underlay the pathogenesis of hereditary coagulation FⅫ deficiency in this pedigree.
Humans ; Male ; Female ; Pedigree ; Factor XII/genetics* ; Mutation ; East Asian People ; Heterozygote ; Mothers ; Factor XII Deficiency/genetics*

A 27-year-old male was admitted to the Xijing Hospital in August 2018 due to unprovoked severe thoracodynia with palpitations, shortness of breath and chest tightness. Computed tomography angiography showed a type A aortic dissection. Genetic testing based on next-generation sequencing for 15 genes associated with hereditary aortic diseases and Sanger sequencing validation revealed a heterozygous missense mutation c.998G>T (p.Gly333Val) in the COL3A1 gene. Sanger sequencing verification of family members confirmed that the mutation c.998G>T co-segregated with the patient′s phenotype in this family. That mutation was classified as "likely pathogenic" according to American College of Medical Genetics and Genomics standards and guidelines for genetic variant classification. Carriers of this mutation can be definitively diagnosed with "vascular Ehlers-Danlos syndrome". After the diagnosis was clarified, symptomatic treatment was given to the patient, but the disease progressed rapidly. The patient discontinued treatment and died shortly after being discharged. In this study, we found a new variant in the COL3A1 gene, expanding the mutation spectrum of this gene.