【Objective】 To analyze the detection characteristics of a novel serum marker, hepatitis B core-associated antigen (HBcrAg), in the HBsAg-/HBV DNA+ blood donors in Wuxi. 【Methods】 A total of 37 previous HBsAg-/HBV DNA+ blood donors were followed up by telephone and their serum was obtained, and the serum of 22 HBsAg-/HBV DNA+ blood donors was detected by electrochemiluminescence and real-time PCR nucleic acid screening as the OBI group for HBcrAg enzyme-linked immunosorbent assay(ELISA). The serum of 20 healthy blood donors who underwent dual ELISA and one nucleic acid testing(NAT) was selected as the healthy control group, and the serum of 20 patients with chronic hepatitis B who were clinically diagnosed by Wuxi Fifth People's Hospital was selected as the experimental CHB group, and HBcrAg ELISA was detected respectively. The correlation analysis between HBcrAg and HBeAb, HBcAb, ALT and HBV DNA in the OBI group was performed. 【Results】 Thirty-seven blood samples were detected by chemiluminescence for HBsAg and NAT, and 22 HBsAg-/HBV DNA+ samples were detected in the OBI group, with a detection rate of 59.46%. The serum HBcrAg expression content (ng/mL) between the OBI group, the healthy control group and the CHB group were (0.92±0.13), (0.47±0.09) and (1.14±0.23), respectively, and the differences were statistically significant (P<0.05), the expression of HBcrAg in the OBI group and CHB group was higher than that in the healthy control group (P<0.05). There was no correlation between HBcrAg and HBeAb, HBcAb, ALT and HBV DNA indexes in the OBI group (P>0.05). 【Conclusion】 The expression of HBcrAg in the OBI group and CHB group was higher than that in the healthy control group, and the serum HBcrAg was not correlated with HBeAb, HBcAb, ALT and HBV DNA to a certain extent. HBcrAg has a good application prospect in screening HBsAg-/HBV DNA+ blood donors.

Objective To investigate the application value of prognostic nutritional index and urea/creatinine ratio in nutritional status assessment for patients with esophageal cancer undergoing radiotherapy and chemotherapy.Methods A total of 138 patients with esophageal cancer who received radiotherapy and chemotherapy were screened.NRS 2002 nutritional screening was used as the standard.Prognostic nutritional index(PNI)and urea/cre-atinine ratio(UCR)were used to evaluate the malnutrition of patients with esophageal cancer.ROC curve was used to evaluate and compare the diagnostic efficacy of different nutritional screening tools.Results The biochemical and hematological indexes of patients with esophageal cancer showed certain characteristics,in which the levels of urea,creatinine,UCR,ALB,PALB,TP,TC,TG,HDL and LDL all fluctuated within the normal range.In terms of nutritional risk screening,the NRS 2002 score identified nutritional risk in 57.97%of patients,while the PNI and UCR predicted nutritional risk in 31.16%and 40.58%of patients,respectively.Consistency test showed that the Kappa value of PNI and NRS 2002 scores was 0.460(P<0.05),and the Kappa value of UCR and NRS 2002 scores was 0.522(P<0.05),indicating that there was a certain correlation between them and NRS 2002 scores in nutri-tional risk screening.Correlation analysis showed that NRS 2002 score was significantly correlated with UCR,ALB,PALB,PBL,Cr,HDL and TP(P<0.05),while PNI was significantly correlated with ALB,PALB,PBL,Cr,HDL,TP and UREA(P<0.05).There were significant correlations between UCR and PALB,UREA and Cr(P<0.05).Logistic univariate regression analysis further confirmed these correlations and revealed that malnutrition was negatively correlated with albumin,prealbumin,total protein,lymphocytes,creatinine and BMI,and positively correlated with urea.However,multivariate regression analysis did not find any statistical difference between these related factors and the two objective evaluation measures.The results of diagnostic efficacy evaluation showed that the area under ROC curve of PNI and UCR evaluation to predict esophageal cancer malnutrition was 0.779 and 0.736,respectively,with statistical significance(P<0.001).Among them,UCR showed higher sensitivity and PNI showed higher specificity,but there was no significant difference in diagnostic value between them.Conclusion PNI and UCR as nutritional assessment tools have certain application value in the nutritional risk screening of patients with esophageal cancer,but their consistency with NRS 2002 score needs to be improved.When assessing the nutritional status of patients,a combination of various indicators and methods should be used to achieve more accurate diagnostic results.

OBJECTIVE: To explore the genetic basis for 4 patients with globozoospermia. METHODS: Semen and blood samples were collected from the patients for the determination of sperm concentration, viability, survival rate, morphology and acrosome antigen CD46. Meanwhile, DNA was extracted for whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing. RESULTS: All of the four patients were found to harbor variants of the DPY19L2 gene. Patients 1 ~ 3 had homozygous deletions of the DPY19L2 gene. Sanger sequencing confirmed that the DPY19L2 gene in patient 3 was disrupted at a recombination breakpoint area BP2, resulting in nonallelic homologous recombination and complete deletion of the DPY19L2 gene. Patients 2 and 3 respectively harbored novel homozygous deletions of exons 2 ~ 22 and exons 14 ~ 15. Patient 4 harbored heterozygous deletion of the DPY19L2 gene, in addition with a rare homozygous deletion of the 3' UTR region. CONCLUSION DPY19L2 gene variants probably underlay the globozoospermia in the four patients, which has fit an autosomal recessive pattern of inheritance and the characteristics of genomic diseases.
Male ; Humans ; Teratozoospermia/genetics* ; Homozygote ; Semen ; Sequence Deletion ; 3' Untranslated Regions ; Membrane Proteins

We conducted a prospective study to assess the non-inferiority of adjuvant chemotherapy alone versus adjuvant concurrent chemoradiotherapy (CCRT) as an alternative strategy for patients with early-stage (FIGO 2009 stage IB-IIA) cervical cancer having risk factors after surgery. The condition was assessed in terms of prognosis, adverse effects, and quality of life. This randomized trial involved nine centers across China. Eligible patients were randomized to receive adjuvant chemotherapy or CCRT after surgery. The primary end-point was progression-free survival (PFS). From December 2012 to December 2014, 337 patients were subjected to randomization. Final analysis included 329 patients, including 165 in the adjuvant chemotherapy group and 164 in the adjuvant CCRT group. The median follow-up was 72.1 months. The three-year PFS rates were both 91.9%, and the five-year OS was 90.6% versus 90.0% in adjuvant chemotherapy and CCRT groups, respectively. No significant differences were observed in the PFS or OS between groups. The adjusted HR for PFS was 0.854 (95% confidence interval 0.415-1.757; P = 0.667) favoring adjuvant chemotherapy, excluding the predefined non-inferiority boundary of 1.9. The chemotherapy group showed a tendency toward good quality of life. In comparison with post-operative adjuvant CCRT, adjuvant chemotherapy treatment showed non-inferior efficacy in patients with early-stage cervical cancer having pathological risk factors. Adjuvant chemotherapy alone is a favorable alternative post-operative treatment.
Female ; Humans ; Uterine Cervical Neoplasms/drug therapy* ; Prospective Studies ; Quality of Life ; Neoplasm Staging ; Chemoradiotherapy ; Chemotherapy, Adjuvant/adverse effects* ; Adjuvants, Immunologic ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Retrospective Studies

Objective:To investigate the clinical features of Kawasaki disease complicated with multiple pulmonary nodules and to summarize the experience of diagnosis and treatment.Methods:Clinical data of 2 cases of Kawasaki disease complicated with multiple pulmonary nodules admitted to the Department of Respiratory, Beijing Children′s Hospital in 2019 were retrospectively analyzed, and relevant literature was reviewed.Results:The 2 cases were both 3-month-old infants, with fever as the main manifestation.Both were consistent with the diagnosis of Kawasaki disease, and the respiratory symptoms were mild or not obvious.Radiological examination revealed multiple pulmonary nodules, and the results of etiology, immunology and tumor-related exams were all negative.In the follow up stage after treatment, pulmonary nodules gradually disappeared.Among 10 cases of Kawasaki disease with pulmonary nodules (8 cases from previous studies and 2 cases from this report), 90% were 3-6-month-old babies, 80% were diagnosed with incomplete Kawasaki disease, and all patients presented more than 2 nodules in the lungs, with irregular distribution and different sizes.Besides, 80% of the 10 cases had coronary artery involvement of varying degrees.One patient died in the acute disease phase, while pulmonary nodules of the remaining patients disappeared in 12 days to 1 year.Conclusions:Kawasaki disease may be complicated with multiple pulmonary nodules, especially in young infants.Most of the patients present with incomplete Kawasaki disease and are prone to coronary artery lesions, which may be related to pulmonary vascular involvement caused by Kawasaki disease.The prognosis is mostly good, and pulmonary nodules can disappear naturally with the treatment and course of Kawasaki disease.

Objective:To investigate epidemiological characteristics and macrolide-resistance of hospitalized children with Mycoplasma pneumoniae (MP) infections in Beijing from 2016 to 2019, so as to provide basis for the prevention and treatment of pediatric Mycoplasma pneumoniae pneumonia (MPP).Methods:The clinical data were analyzed retrospectively from 8 691 children hospitalized with community acquired pneumonia in Beijing Children′s Hospital between January 2016 and September 2019.MP RNA was detected by simultaneous amplification and testing (SAT), and macrolide resistance of MP was examined by MP and macrolide-resistant isolate diagnostic kit (PCR with fluorescence probes). Chi- square test was used for categorical analysis. Results:Among 8 691 cases detected by SAT, the overall detection rate of MP was 28.10% (2 442/8 691 cases). The detection rates of MP from 2016 to 2019 were 26.23%, 31.36%, 27.84 % and 26.57%, respectively.The detection rate of MP in 2017 was significantly higher than that in other years ( χ2=16.11, P<0.05). The detection rate of MP in females was 29.65%(1 107/3 733 cases), which was evidently higher than that in males 26.93%(1 335/4 958 cases) ( χ2=7.85, P<0.05). The positive rates of MP in summer[32.21% (726/2 254 cases)] and autumn[39.76%(852/2 143 cases)] were significantly higher than those in spring[17.00% (327/1 924 cases)] and winter[22.66%(537/2 370 cases)] ( χ2=315.15, P<0.001). The percentages of MP were 35.06%(732/2 088 cases) in preschoolers and 37.71%(1 160/3 076 cases) in school-age children, which were significantly higher than 11.20%(232/2 072 cases) in infants and 22.01% (318/1 445 cases) in toddlers ( χ2=509.89, P<0.001). Macrolide resistance detection was conducted in 1 524 patients by fluorescent PCR.Among them, 1 386 patients were positive for drug resistance, and the positive rate was 90.94%.The prevalence of macrolide-resistant MP from 2016 to 2019 were 88.19%, 90.93%, 90.56% and 92.90%, respectively.Macrolide-resistant rates were not related with gender, age and season. Conclusions:MP can be detected in all seasons, but most prevalently in summer and autumn.Girls are more prone to MP infections than boys.The detection rate of MP increases with age, and the positive rate is higher in preschoolers and school-age children.During the 4-year study period, the drug resistant rate of MP remain high.

Objective:To investigate the etiology of pleural effusion in hospitalized children in Beijing Children′s Hospital.Methods:Clinical information of children with pleural effusion admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from January 2016 to December 2018 was retrospectively analyzed.According to the etiology, the children were divided into infection group (parapneumonic pleural effusion, tuberculous pleurisy and empyema) and non infection group.According to the age, the children were further divided into ≤ 3 years old, >3-7 years old and > 7 years old groups.Classification of statistics was performed, and the etiology of pleural effusion were retrospectively analyzed.Results:Among the 1 165 children with pleural effusion, 746 cases(64.0%) were infected with pleural effusion, 697 cases (697/746, 93.4%) of who were parapneumonic effusion.In patients with parapneumonic effusion, 457 cases (61.3%) had Mycoplasma pneumonia (MP) infection.Infectious pleural effusion was more common in children >7 years old(339/479 cases, 70.8%), while non-infectious pleural effusion was prevalent in children under 3 years old(188/324 cases, 58.0%). The difference was statistically significant ( χ2=96.33, P<0.05). Among the patients with non-infectious pleural effusion, 239 cases (239/419 cases, 57.0%) had multi-system diseases and 97 cases (97/419 cases, 23.2%) had malignant pleural effusion.All the 18 deaths were non-infectious pleural effusion. Conclusions:The leading reason for pleural effusion in children is infection.The most prevalent symptom is parapneumonic effusion, which is mainly caused by MP.

Objective:To analyse the pathogenic bacteria distribution and clinical characteristics of late-onset sepsis (LOS) among premature infants with gestational age less than 34 weeks in Henan Province.Methods:The clinical data of 6 590 premature infants admitted to 17 medical institutions in Henan Province from January 2019 to December 2020 were retrospectively analyzed. The gestational age of infants was less than 34 weeks and was admitted to the neonatal ward within 7 days after birth. SPSS 19.0 statistical software was used for data analysis.Results:Among 6 590 premature infants LOS developed in 751 cases (11.40%), of whom the diagnosis was confirmed in 276 cases (36.75%) and 475 cases (63.25%) were diagnosed clinically. The fatality rate related to LOS was 13.58%. There were significant differences in the incidence of LOS and infection-related mortality among infants with different gestational ages and body weights ( χ2=388.894 and 13.572, χ2=472.282 and 9.257, P<0.05 or <0.01). Among 276 children with confirmed LOS, 286 strains of pathogenic bacteria were isolated. Gram-negative bacteria were most prevalent (178 strains), accounting for 62.24% of all infections, followed by fungi (58 strains, 20.28%). Klebsiella pneumoniae was most frequently detected Gram-negative bacteria (117 strains, 40.91%), among which 32.48% (38/117) was carbapenem-resistant Klebsiella pneumoniae. The proportion of diagnosed sepsis, the proportion of catheterization, and the infection-related mortality of infants with LOS in tertiary hospitals were all higher than those in secondary hospitals ( χ2=6.212, 5.313 and 4.435, all P<0.05). The proportion of exclusive breastfeeding in secondary hospitals was lower than that in tertiary hospitals ( χ2=19.216, P<0.05). The time of antibacterial drug use before infection in specialized hospitals was longer than that in general hospitals ( χ2=3.276, P<0.05). Conclusion:The incidence of LOS among preterm infants in Henan Province is high, which was mainly caused by Gram-negative bacteria. The clinical characteristics of LOS caused by different pathogens and in different health institutions are different, the prevention and control strategy should be developed accordingly to reduce the incidence LOS of preterm premature infants.

OBJECTIVE: To analyze genetic variant in a pedigree affected with congenital high myopia. METHODS: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. RESULTS: WES has identified a novel splice site heterozygous variant (c.2556+1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+PM2). CONCLUSION A novel splice variant (c.2556+1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
Collagen Type XI ; genetics ; Genetic Testing ; Heterozygote ; Humans ; Myopia ; genetics ; Pedigree ; Whole Exome Sequencing

Objective: To analyze genetic variant in a pedigree affected with congenital high myopia. Methods: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. Results: WES has identified a novel splice site heterozygous variant (c.2556+ 1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+ 1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+ PM2). Conclusion A novel splice variant (c.2556+ 1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.