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Objective To investigate the prevalence and genotype of thalassemia in high-risk children with thalassemia in Wuzhou, and to provide a reference for formulating strategies for the prevention and treatment of thalassemia and for reducing the incidence of thalassemia. Methods Four deletions and 3 point mutations of alpha-thalassemia and 17 point mutations of beta-thalassemia were detected and analyzed by GAP-PCR and PCR combined with reverse dot blot hybridization in children at a high risk for thalassemia in Wuzhou from 2010 to 2018. Results There were 1,421 positive cases in the first screening, and 871 cases were confirmed through genotyping, with a positive rate of 61.29%, including4 deletion types and 14 mutation types. There were 452 cases (51.89%) of α-thalassemia, 337 cases (38.69%) of β-thalassemia and 82 cases (9.41%) of combination of α-thalassemia and β-thalassemia. The common genotypes of α-thalassemia in children in Wuzhou were: --SEA/αα, --SEA/-α3.7, -α3.7/αα, --SEA/αCS αCS, αWSα/αα, --SEA/-α4.2, -α4.2/αα, and αCSα/αα. CD41-42, CD17, -28 and CD71-72 were the most common heterozygotes, while CD41-42/-28, CD41-42/IVS-2-654, and CD41-42/ CD71-72 were the most common double heterozygotes in children with β-thalassemia in Wuzhou. The most common homozygous genotypes were CD41-42 / CD41-42 and -28/-28. Conclusion In order to control thalassemia it is critical to increase investment in large-scale screening of carriers of the thalassemia mutant gene, and to prevent the birth of children with severe thalassemia.
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【Objective】 To investigate the hepatitis E virus(HEV) infection among voluntary blood donors in Liuzhou, Guangxi. 【Methods】 Qualified blood donations in Liuzhou from October to November 2019 were tested for anti-HEV IgG and IgM and.HEV antigen. HEV RNA test was performed on samples positive for HEV antigen and/or anti-HEV IgM. and the test results were analyzed statistically. 【Results】 The seroprevalence rates of HEV antigen and anti-HEV IgG and IgM among 5 751 qualified donations were 0, 26.03% (1497/5 751), and 1.67% (96/5 751), respectively.None of the 91 anti-HEV IgM positive samples was positive for HEV RNA, whereas 60.41% of anti-HEV IgM positive samples were anti-HEV IgG positive. The HEV antibody prevalence varied significantly by gender, age, and nationality (P<0.05). 【Conclusion】 The prevalence of anti-HEV IgG / IgM among blood donors in Liuzhou was higher than that in other domestic regions. Significant increase in HEV antibody prevalence was observed among ethnic minorities, such as Miao and Dong, and age group of more than 45 years.Follow-up studies with larger sample size could be conducted to estimate potential risks of HEV transmission by blood transfusion, which may provide references for selective screening of HEV infection marker among high-endemic population.
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Objective To explore the correlation between human cytomegalovirus(HCMV) infection with infantile hepatitis syn‐drome(IHS) and hepatic function damage .Methods The real‐time fluorescent quantitative polymerase chain reaction(PCR) was a‐dopted to test the urine HCMV DNA in 236 infants with IHS and 236 healthy infants ,respectively .The hepatic functions in 254 in‐fants with HCMV infection were analyzed retrospectively .Results Among these 236 cases of IHS ,the positive rates of HCMV DNA in urine sample was 62 .7% (148/236) .The positive rates of HCMV DNA and HCMV IgM in the IHS group were significant‐ly higher than those in the control group with statistical difference(P< 0 .01) .The liver function indexes in 254 infants with HCMV infection showed that the serum concentrations of total bilirubin (TBIL ) ,gamma glutamyl transpeptidase (GGT ) ,total bile acid (TBA) ,aspartate aminotransferase(AST ) and alanine aminotransferase(ALT ) were higher than the normal reference ranges ,and the differences were statistically significant(P < 0 .01) .Conclusion The detection rate of HCMV infection is high among the in‐fants with IHS in Guangxi area and HCMV is an important pathogen of IHS .HCMV may lead to hepatic function damage .
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Objective To investigate the relationship between the expression of β-catenin and drug-resistance mechanism of choriocarcinoma according to the expression of β-catenin in JEG-3 cells (human choriocarcinoma cell line) and drug resistant JEG-3/VP16 cells.Methods The mRNA and protein expressions of β-catenin were analyzed with reverse transcription-polymerase chain reaction(RT-PCR) and Western blotting.Flow cytometry was used to determine the percentages of β-catenin-positive cells in the two choriocarcinoma cell lines.Results Both drug resistant choriocarcinoma cells and drag sensitive cells were found to express β-catenin; but the expression of β-catenin mRNA (1.43 ±0.24) and protein(1.49 ±0.17)in drug resistant choriocarcinoma cells was found much higher than that in drug sensitive cells(0.65 ±0.14,0.66 ±0.16,P ＜0.01).And according to detect by flow cytometry,we found the number of β-catenin-positive cells in JEG-3/VP16 cells [(40.13 ±5.17) ％] was much more than that in JEG-3 cells [(13.15 ± 1.48) ％,P ＜ 0.01].Conclusions β-catenin was highly expressed in the drug resistant choriocarcinoma cell line (JEG-3/VP16).It indicates β-catenin might be involved in the drug resistance mechanism of choriocareinoma.
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Objecfive To investigate the relationship between single nucleotide polymorphism-56(SNP-56)in calpain-10(CAPN-10)gene and polycystic ovary syndrome(PCOS)in Chinese.Methods The genotypes of SNP-56 of CAPN-10 were determined through polymerase chain reaction Tm-shift genotyping method in 638 local women in Shandong Province.Among them,334 were patients with PCOS (PCOS group)and 304 were normal women(control group).The baseline parameters including levels of serum follicle-stimulating hormone(FSH),luteinizing hormone(LH),prolactin(PRL),estradiol(E2),testosterone(T)and lipid,as well as the body mass index(BMI)and waist/hip ratio(WHR)were measured.Glucose tolerance and insulin releasing before and after loading with 75 g of glucose were also assayed.Results(1)The frequencies of two allelotypes or three genotypes did not differ between PCOS women and normal women(P＞0.05).(2)In PCOS group,patients with AA genotype had a significantly higher plasma glucose of 180 minutes OGTT(5.7±2.2)mmol/L[P＜0.01 compared to Gagenotype(4.9±1.2) mmol/L,P＜0.01 compared to GG genotype(4.9±1.4)mmol/L]and serum total cholesterol(TC)level(4.9±1.0)mmol/L[P＜0.05 compared to Gagenotype(4.5±0.9)mmol/L].(3)Compared to PCOS patients with GA+GG genotype(P＜0.05,P＜0.01)or GG genotype(P＜0.05,P＜0.01),there was significantly higher attack rate of diabetes and tumor in the family history of patients with AA genotype.Conclusions These findings suggest that CAPN-10 gene SNP-56 which may not contribute to the genetic susceptibility of PCOS plays a role in glucose and lipid metabolism in Chinese PCOS patients.It may also be correlated with attack rate of diabetes and tumor in the family history of PCOS patients.
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<p><b>OBJECTIVE</b>The purpose of this study was to determine the incidence of temporary and permanent sensory disturbance of the inferior alveolar nerve (IAN) after bilateral sagittal split osteotomy (BSSO) of the mandible.</p><p><b>METHODS</b>14 patients were selected for this study. Before BSSO and at 1 week, 1, 3, 6 and 12 months after BSSO, the sensibility of bilateral inferior alveolar nerves were examined using sharp-blunt testing, 2-point discrimination, electronic pain response test (ZGK-1 electrometer).</p><p><b>RESULTS</b>With conventional sharp-blunt and 2-point discrimination test, electronic pain response test, the incidence of temporary impairment of IAN after BSSO was 78% (22/28). Obvious sensory recovery of IAN was found 6 to 12 months postoperatively. Permanent sensory disturbance of unilateral inferior alveolar nerve occurred in 2 patients.</p><p><b>CONCLUSIONS</b>Sensory recovery of the inferior alveolar nerve after bilateral sagittal split osteotomy of the mandible would take 6 to 12 months. Serious injury of the IAN would cause permanent neurosensory deficits.</p>