Objective To explore the effects of different approaches of stem cell therapy in patients with leukemia on haptoglobin(Hp).Methods The trial includes four patients treated by mesenchymal stem cell(MSC)with hematopoietic stem cell cotransplantation(HSCT)and two patients treated by hematopoietic stem cell transplantation(HSCT).Haptoglobin in the plasma,collected from different therapeutic stages,of six patients was separated by two-dimensional gel electrophoresis(2-DE),and then followed by the identification with MALDI-TOF/TOF mass spectrometry.Results The abundance of haptoglobin alpha and beta chains with different modifications decreased along with an extending therapeutic time window.This tendency was more significant in HSCT group.Conclusion The haptoglobin may be a potential biomarker for the prognosis in patients with leukemia treated by stem cell transplantation.

In order to investigate the clinicopathological characteristics of aortic valve disease in children, all the native surgically excised aortic valves obtained between January 2003 and December 2005 were studied macroscopically and microscopically. The patients' medical records were reviewed and the clinical information was extracted. According to preoperative echocardiography, intraoperative assessment, and postoperative pathology, combined with clinical symptoms and signs, aortic valve diseases were divided into three categories: aortic stenosis (AS), aortic insufficiency (AI), and aortic stenosis with insufficiency (AS-AI). The etiology was determined according to the macroscopic, microscopic and clinical findings. The results showed that among 70 aortic valves, patient age ranged from 6 to 18 years, with a mean of 15.4 years, and there were 56 boys and 14 girls (male: female=4:1). Forty-four children only had pure aortic valve disease, and the other 26 children had aortic valve disease associated with other heart valve diseases. There were 5 cases of AS (7.14%), 60 cases of AI (85.71%) and 5 cases of AS-AI (7.14%). The causes were congenital aortic valve malformation (32 cases, 45.71%), rheumatic disease (28 cases, 40%), infective endocarditis (7 cases, 10%), Marfan syndrome (2 cases, 2.86%), and undetermined (1 case, 1.43%). It was concluded that the common causes of aortic valve disease in order of frequency in children were congenital aortic valve malformation, rheumatic disease, infective endocarditis, and Marfan syndrome. AI was more common in children with aortic valve disease. Compared with adult patients, congenital bicuspid aortic valve in children was often AI. Histologically, the leaflets of congenital bicuspid aortic valve were mainly myxomatous, fibrosis and calcification less seen. AI was frequently found in rheumatic disease, mostly associated with other heart valve diseases. Macroscopic and microscopic examinations together with clinical information, echocardiographic findings and operative details were important in evaluating the etiology of aortic valve disease.

Objective To investigate the inhibiting effect of interleukin (IL)‐24 combined with targeted attenuated Salmonella typhimurium vector SL7207/pBud‐VP3 on the growth of gastric cancer cells .Methods The co‐expression eukaryotic expression plasmid pBud‐VP3‐IL‐24 was constructed .The plasmid pBud‐VP3‐IL‐24 was transformed into attenuated Salmonella typhimurium SL7207 by using the high voltage electroporation for constructing the SL 7207/pBud‐VP3‐IL‐24 strain .The mouse gastric cancer transplantation tumor model was established and randomly divided into the normal saline control group ,SL7207/pBud group , SL7207/pBud‐VP3 group and SL7207/pBud‐VP3‐IL‐24 group .The tumor‐bearing mice were fed by oral administration of bacterial strain .The tumor volume was measured and the tumor inhibition rate was calculated .The expression of IL‐24 was detected by Western blotting .The levels of IFN‐γ,IL‐6 and TNF‐αin tumor tissue were detected by using RT‐PCR .The expression of Caspase‐3 and VEGF were detected by using immunohistochemistry .Results The plasmids attenuated Salmonella typhimurium vector carrying the gene IL‐24 was successfully constructed .The IL‐24 protein expression was detected in gastric cancer tissue after 14 d treatment .The tumor volume after 28 d treatment in the SL7207/pBud‐VP3‐IL‐24 group was reduced compared with the other groups ,moreover the tumor growth was significantly inhibited ,and the differences were statistically significant (P<0 .05) .RT‐PCR and immunohistochemistry results showed that IL‐24 combined with SL7207/bBud‐VP3 could significantly increase the expression levels of immune factor IL‐6 ,IFN‐γ and TNF‐αin tumor tissue ,.in addition ,up‐regulated the expression of Caspase‐3 and down‐regulated the VEGF expression(P<0 .05) .Conclu‐sion IL‐24 combined with SL7207/pBud‐VP3 can synergically play the inhibitory effect on the growth of gastric cancer cells ,its mecha‐nism is related with the tumor apoptosis promotion ,tumor vessel inhibition and immune regulation .

Objective To investigate epidemiological characteristics and trends of gonorrhea in China, and to provide a scientific basis for the development of control strategies. Methods An epidemiological study was performed on gonorrhea cases reported from 31 provinces, autonomous regions or municipalities directly under the central government between 2000 and 2014. Results The reported incidence rate of gonorrhea decreased from 22.92 per 100 000 in 2000 to 7.25 per 100 000 in 2014, with the average annual rate of decrease being 7.89%. There was a significant difference in the incidence of gonorrhea between different regions. The regions with the highest incidence rate of gonorrhea were Yangtze River Delta region(Zhejiang, Shanghai, Jiangsu)and Zhujiang River Delta region(Guangdong, Guangxi, Hainan), followed by northwest China (Xinjiang, Ningxia, Inner Mongolia). The incidence of gonorrhea was higher in males than in females, and the average male/female ratio increased from 1.96 ∶ 1 in 2000 to 4.52 ∶ 1 in 2014. The population aged 20 - 44 years showed high incidence of gonorrhea, and the highest incidence rate of gonorrhea was observed in the age group 25 - 29 years in both men and women. The incidence of gonorrhea decreased in all the age groups from 2000 to 2014 except the age group 15 - 19 years with an annual growth rate of 4.18%. Of 20 occupations, peasant workers accounted for the highest proportion (26.00%)of reported gonorrhea cases, and the number of reported gonorrhea cases showed a decreasing trend in all the occupations. Conclusions Gonorrhea remains a major public health issue in China, and effective measures based on epidemiological features are urgently needed to control gonorrhea.

Objective To investigate epidemiologic features of genital Chlamydia trachomatis (Ct) infection in China,and to provide scientific evidence for developing control strategies.Methods A descriptive epidemiological study was conducted to analyze personal,spacial and temporal distribution of genital Ct infection cases reported from 105 national sexually transmitted disease (STD) surveillance sites in China between 2008 and 2015.Results The reported incidence rate of genital Ct infection increased from 32.48 per 100 000 in 2008 to 37.18 per 100 000 in 2015,with the average annual rate of increase being 1.95％.There was marked variation in the reported incidence of genital Ct infection (range,＜ 1/100 000-615.99/100 000) among different STD surveillance sites,which was relatively high in the Pearl River Delta region,Yangtze River Delta region,Minjiang River region and some ethnic minority areas in western China,but low in north China and central China.In addition,no cases were reported at a few sites in rural areas.The reported annual incidence rate was higher in females than in males from 2008 to 2015,and the ratio of male to female cases decreased from 0.61:1 in 2008 to 0.46:1 in 2015.Among all age groups,the sexually active population aged 20-44 years showed high reported incidence of genital Ct infection,with the highest reported incidence observed in the group aged 25-29 years (range,116.72/100 000-142.98/100 000);the group aged 15-19 years showed the highest average annual rate of increase (10.06％) in the reported incidence of genital Ct infection.Among all kinds of medical institutions,general hospitals had the largest number of reported cases (range,66.00％-74.22％),followed by gynecology hospitals,Maternal and Child Health (MCH) hospitals and specialized dermatovenereology hospitals.Conclusions Genital Ct infection has been one of important public health issues in China,more attention should be paid to its prevention,and effective preventive measures are needed to be developed according to epidemiologic features.

Objective:To investigate the abnormal results of chromosomal microarray analysis (CMA) in the subsequent pregnancy of women with adverse pregnancy history, and explore the applicability of CMA in women with different genetic etiology.Methods:Out of 5 563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020, 169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study. All the participants were divided into three groups based on the etiology type of probands, genetic origin and expected CMA outcome: high-risk group ( n=19, including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities), low-risk group ( n=113, including six cases with negative whole exome sequencing and/or CMA findings, 31 cases with confirmed monogenic disease, 47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities), and unknown risk group ( n=40, none of the cases underwent genetic testing). Descriptive statistical analysis was used to summarize the abnormal detection of each group. Results:There were 169 mothers with 172 fetuses finally enrolled, including two twins and one woman with two singleton pregnancies. A total of nine cases of abnormal fetuses were detected by CMA, accounting for 5.2% (9/172). Among them, eight were in the high-risk group, which were all caused by parental abnormalities, and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication, which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3. No abnormality was detected in the 40 patients of unknown risk group. Conclusions:Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA. Monogenic disease, unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.

Objective: To have the knowledge of comprehensive sexuality education (CSE) content in curriculum standards and textbooks of high school education, and to provide suggestions for containing CSE content in the curriculum construction, teaching materials compilation and teaching practice in China. Methods: The research referred to Teaching Materials Analysis Model and Interpretative Structural Model for analyzing and evaluating the curriculum standards and textbooks of high school in China from the perspective of CSE. Results: CSE content were related with the 20 curriculum standards distinctively and appeared in the teaching objectives, contents and compilation elements of textbooks. Problems were observed in scientific accurate, age appropriate and comprehensive contents in sexuality education textbooks. The reliability and the effectiveness of high school teaching materials, the feasibility of curriculum design and the effectiveness of curriculum construction needed to be strengthened. Conclusion It is suggested that more attention should be paid to the curriculum research of CSE, and the curriculum design should be decided. The gender equality content of the textbooks needs to be evaluated and strengthened, and the positive aspects of CSE need to be supplemented for the CSE teaching practice with schools as the center.

OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with X-linked hypophosphatemia (XLH). METHODS: Whole-exome sequencing was carried out to screen genetic variants in the proband and her parents. Candidate variant of the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) was verified by Sanger sequencing of all members of the pedigree and the 100 healthy controls. Prenatal diagnosis was carried out on chorionic villi sample derived from the fetus of the proband. RESULTS: A c.1256G>A (p. Gly419Glu) variant was identified in the PHEX gene of the proband and all other patients from this pedigree. The same variant was not found among healthy members from this pedigree and the 100 healthy controls. Prenatal diagnosis suggested that the fetus also carried the c.1256G>A (p. Gly419Glu) variant. CONCLUSION The c.1256G>A (p. Gly419Glu) variant of the PHEX gene probably underlay the pathogenesis of XLH in this family. Discovery of the novel variant has enriched the mutational spectrum of the PHEX gene.
China ; Familial Hypophosphatemic Rickets ; Female ; Humans ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics* ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To explore the genetic characteristics of a Chinese pedigree affected with van der Woude syndrome (VWS). METHODS: A proband who had visited the Drum Tower Hospital Affiliated to Nanjing University Medical School in May 2020 for "two previous pregnancies with cleft lip and palate" was selected as the study subject. Trio-whole exome sequencing (trio-WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of her pedigree members (8 individuals from four generations) and bioinformatic analysis. Chromosomal microarray analysis (CMA) was used to rule out copy number variations in the fetuses. RESULTS: Trio-WES revealed that the proband and her father had both harbored a heterozygous c.742G>T (p.G248C) missense variant of the IRF6 gene, for which her mother was of the wild type. The variant was located in a region with important functions and has not been reported previously. Prediction with several software suggested that it is likely to have a significant impact on the protein structure/function and is highly correlated with the specific phenotypes in this pedigree. Sanger sequencing confirmed co-segregation of the genotypes and phenotypes in the pedigree. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was rated as likely pathogenic (PM1+PM2_Supporting+PP1+PP3+PP4). Based on the above results, pre-implantation genetic diagnosis was carried out for the proband, which has led to birth of a healthy offspring with normal results for both site testing and CMA. CONCLUSION The IRF6: c.742G>T (p.G248C) heterozygous variant probably underlay the VWS in this pedigree. Above finding has also enabled reproductive guidance for the proband.
Humans ; Female ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Pedigree ; DNA Copy Number Variations ; East Asian People ; Interferon Regulatory Factors/genetics* ; Mutation

OBJECTIVE: To detect potential variants in eight Chinese pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD) and provide prenatal diagnosis for two of them. METHODS: Whole exome sequencing and high-throughput sequencing were carried out to detect variants of PKD1 and PKD2 genes in the probands. Sanger sequencing was used to validate the variants, and their pathogenicity was predicted by searching the ADPKD and protein variation databases. RESULTS: Eight PKD1 variants were detected, which have included five nonsense mutations and three missense mutations. Among these, four nonsense variants (PKD1: c.7555C>T, c.7288C>T, c.4957C>T, c.11423G>A) were known to be pathogenic, whilst one missense variant (PKD1: c.2180T>G) was classified as likely pathogenic. Three novel variants were detected, which included c.6781G>T (p.Glu2261*), c.109T>G (p.Cys37Gly) and c.8495A>G (p.Asn2832Ser). Prenatal testing showed that the fetus of one family has carried the same mutation as the proband, while the fetus of another family did not. CONCLUSION PKD1 variants, including three novel variants, have been identified in the eight pedigrees affected with ADPKD. Based on these results, prenatal diagnosis and genetic counseling have been provided.
DNA Mutational Analysis/methods* ; Female ; Humans ; Mutation ; Pedigree ; Polycystic Kidney, Autosomal Dominant/genetics* ; Pregnancy ; Prenatal Diagnosis ; TRPP Cation Channels/genetics*