Objective To investigate the impact of fatty liver on antiviral effect in the patients with chronic hepatitis B (CHB) .Methods A total of 204 patients with hepatitis Be antigen (HBeAg ) positive CHB in the outpatient department of our hospital from January 2011 to April 2014 were selected as the research subjects and divided into the two groups according to wheth‐er complicating fatty liver :the simple CHB group(control group ,122 cases) and CHB complicating nonalcoholic fatty liver disease (NAFID) group(observation group ,82 cases) .The two groups all received the 24‐week antiviral therapy of adefovir (10 mg/d) . The differences in the normalization rate of ALT/AST (biochemical response) ,HBeAg negative conversion rate (serological re‐sponse) and HBV DNA negative conversion rate(virological response) were compared between the two groups .Then the cases ob‐taining the virological response after treatment in the two groups were compared again .Among the cases obtaining virological re‐sponse,thedifferencesinthenormalizationrateofALT/AST(biochemicalresponse)andHBeAgnegativeconversionrate(serologi‐cal response) were compared between the simple CHB group and CHB complicating NAFID group .Results The normalization rate of ALT/AST after 24‐week treatment in the CHB complicating NAFID group was 58 .5% ,which was significantly lower than 72 .1% in the simple CHB group ,the difference was statistically significant ;the negative conversion rate of HBV DNA and HBeAg after 24‐week treatment in the simple CHB group was 67 .2% and 52 .5% ,which were significantly higher than 51 .2% and 37 .8%respectively ,the differences were statistically significant ;among the cases obtaining the virological response ,the normalization rate of ALT/AST in the simple CHB group was 96 .3% ,which was significantly higher than 66 .7% in the CHB complicating NAFID group ,the difference was statistically significant .But among the cases obtaining the virological response ,the negative conversion rate of HBeAg was 78 .0% in the simple CHB group and 73 .8% in the CHB complicating NAFID group ,the simple CHB group was slightly higher than the CHB complicating NAFID group without statistical difference .Conclusion NAFLD has impact on the antiviral effect of adefovir treatment in CHB patients with positive HBeAg ,whereas complicating NAFLD is an important reason for reaching the virological response and serological response ,but without reaching the biochemical response in the antiviral treatment of CHB complicating NAFID .

OBJECTIVE: To investigate the association between-1304T/G polymorphism in the promoter of MKK4 gene and the susceptibility in sporadic nasopharyngeal carcinoma. METHOD: MKK4-1304T/G genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 90 NPC cases and 30 healthy controls. RESULT: The number of nasopharyngeal carcinoma patients carrying with TG+GG genotype was much higher than those of controls (82.2% vs 66.7%, χ² =10.076, P < 0.05). Analysis showed that compared with the-1304TT genotype, -1304TG heterozygous reduced risk of nasopharyngeal carcinoma 0.56 fold (95% CI = 0.164-1.178, P < 0.01) and-1304GG lower 0.58 fold (95% CI = 0.126-1.381, P < 0.01), TG+ GG genotype variation risk of nasopharyngeal carcinoma decreased 0.72 fold (95% CI = 0.105-0.753, P < 0.01). CONCLUSION MKK4 gene-1304TG genotype can reduce risk of nasopharyngeal carcinoma, and it may be an independent protection factor in sporadic nasopharyngeal carcinoma.
Carcinoma ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Humans ; MAP Kinase Kinase 4 ; genetics ; Nasopharyngeal Carcinoma ; Nasopharyngeal Neoplasms ; genetics ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic

Objective:To detect the genes of common genetic diseases in newborns with the high-throughput sequencing technology based on target gene capture, to study the incidence rate of such diseases, the carrying rate and variant types of pathogenic mutations related to such diseases, and to explore the application value of the high-throughput sequencing technology in screening genetic diseases of newborns.Methods:The heel blood of 1 793 newborns born in Guangdong province from June 2019 to April 2020 were collected, and the exon regions of 138 common genetic disease-related genes in neonates were detected using the high-throughput sequencing technology based on target gene capture.The pathogenicity of the mutations was interpreted according to the " Classification Criteria and Guidelines for Genetic Variation(2017)" , in which known disease and probable disease were considered as positive mutations.The positive mutations were verified by Sanger sequencing technology, and the test results were analyzed with statistical methods.Results:Among the 1 793 newborns, 978 were male and 815 were female.A total of 158 positive cases were screened(8.81%), and 11 positive diseases were detected.Among the positive diseases, there were 41 cases(2.29%)of autosomal recessive deafness type 1A, 40 cases(2.23%)of Gilbert syndrome or Crigler-Najjar syndrome, and 33 cases(1.84%)of glucose-6-phosphate dehydrogenase deficiency(1.84%), 19 cases(1.06%)of familial hypercho-lesterolemia, 18 cases(1.00%) of sodium taurocholate cotransporter peptide deficiency disease, 2 cases(0.11%)of mitochondrial non-syndromic deafness, 2 cases(0.11%)of Citrin deficiency, 1 case(0.06%)of holocarboxylase synthase deficiency, 1 case(0.06%)of β-thalassemia and 1 case(0.06%)of metachromatic leukodystrophies.Of all studied cases, 972 carried one or more positive mutations, involving 85 kinds of diseases in total.The diseases with a high carrying rate were Gilbert syndrome or Crigler-Najjar syndrome(359 cases, 20.02%), autosomal recessive deafness type 1A(302 cases, 16.84%), and sodium taurocholate cotransport peptide deficiency disease(291 cases, 16.22%). The high-frequency mutation sites were UGT1A1 gene c. 211G> A, GJB2 gene c .109G> A and SLC10A1 gene c. 800C> T. Conclusions:The common genetic diseases detected in neonates from Guangdong province are autosomal recessive deafness type 1A, Gilbert syndrome or Crigler-Najjar syndrome, glucose-6-phosphate dehydrogenase deficiency, familial hypercholesterolemia, and sodium taurocholate cotransport peptide deficiency.There are high-frequency carrying mutation sites in the population.Preliminary genetic screening of common neonatal genetic diseases can accumulate data and experience for the development of newborn genetic screening.

Objective:To analyze the characteristics of stereoelectroencephalography (SEEG) in children with drug-resistant epileptic spasms (ES), and to explore the surgical strategy of children with spastic seizure under the guidance of SEEG.Methods:The clinical data of 156 children with ES who were preoperatively evaluated in the Department of Neurosurgery Ward 3, Tsinghua University Yuquan Hospital from January 2014 to December 2021 were retrospectively reviewed.All children were evaluated in the second stage of stereotactic electrode placement after a non-invasive preoperative evaluation.The characteristics of intracranial EEG, surgical strategy and prognosis were analyzed.Results:A total of 19 eligible children were included, involving 13 boys and 6 girls.The age of first onset and surgical age of them ranged 1 month to 4 years, and 2 years to 13 years, respectively.The SEEG was divided into 3 types in children with ES at the onset.Five children were SEEG type A, presenting with the focal seizure discharges at the beginning and a gradual propagation to widespread fast-wave bursts.Ten children were SEEG type B, presenting a focal leading spike followed by diffused fast-wave bursts.Four children were SEEG type C, presenting a diffuse fast wave rhythm onset.Although some electrode discharges appeared slightly " leading", they covered more than one brain region.After focal resection or thermocoagulation, 13/19 patients did not have the onset of seizures, and 5/19 and 8/19 were graded as SEEG type A, and B, respectively.During the intermittent period of SEEG attacks in children with SEEG type A and B, a significant phenomenon of focal epileptic discharge consistent with the onset of the attack was observed, and surgical removal of these areas effectively controlled spastic seizures.Conclusions:Epileptic spasms may be triggered by a focal neocortical discharge.Intracranial EEG showed that the focal seizure onset evolves into spasm or a focal " leading spike" is a good indicator of surgical prognosis.

Objective To analyze the relationship between expression levels of long non-coding RNA(LncRNA)LINC00342 and microRNA-203a-3p(miR-203a-3p)in colorectal cancer tissue and the prognosis of patients within 5 years after surgery.Methods Samples of colorectal cancer tissue and paracancer tissue of 133 patients with colorectal cancer were collected.Expression levels of LncRNA LINC00342 and miR-203a-3p were detected by fluorescence quantitative PCR.Survival and death were recorded after 5 years of follow-up.The LncRNA LINC00342 and miR-203a-3p expressions and clinicopathological parameters in patients under different conditions were compared.The correlation between expressions of LncRNA LINC00342 and miR-203a-3p in colorectal cancer tissue was analyzed,and their predictive value for the prognosis was also analyzed.Results The expression level of LncRNA LINC00342 was higher in colorectal cancer tissue than that in paracancer tissue,and the expression level of miR-203a-3p was lower in colorectal cancer tissue than that in paracancer tissue(P＜0.05).The expression levels of LncRNA LINC00342 and miR-203a-3p in colorectal cancer tissue were negatively correlated(P＜0.05).The proportion of patients with low tumor differentiation,TNM stage Ⅲ and lymph node metastasis were higher in the LncRNA LINC00342 high expression group and the miR-203a-3p low expression group than those in the LncRNA LINC00342 low expression group and the miR-203a-3p high expression group,respectively(P＜0.05).The 5-year overall survival rate after operation was lower in the LncRNA LINC00342 high expression group and the miR-203a-3p low expression group(P＜0.05).The proportion of patients with low tumor differentiation,TNM stage Ⅲ,lymph node metastasis,and higher expression level of LncRNA LINC00342 were higher in colorectal cancer tissue of the death group than those in the survival group,and the expression level of miR-203a-3p was lower than that in the survival group(P＜0.05).Low tumor differentiation,TNM stage Ⅲ,lymph node metastasis,high expression of LncRNA LINC00342 and low expression of miR-203a-3p were independent risk factors for death within 5 years after colorectal cancer surgery(P＜0.05).The combined predictive value of LncRNA LINC00342 and miR-203a-3p for prognosis was greater than that of individual prediction.Conclusion LncRNA LINC00342 is higher expressed and miR-203a-3p is lower expressed in colorectal cancer tissue,and the combined detection of the two is expected to become a clinical evaluation indicator for predicting postoperative survival.

Objective:To investigate the clinicpathological characteristics of post-transplant lymphoproliferative disorders (PTLD) in transplanted lung, and to improve its diagnosis and treatment.Methods:The clinicopathological characteristics of PTLD in three transplanted lungs were evaluated at Wuxi People′s Hospital Affiliated to Nanjing Medical University from 2014 to 2019. HE, immunohistochemical staining and in situ hybridization were performed. The relevant literature of PTLD was reviewed.Results:All three patients had chronic obstructive pulmonary disease (COPD) before lung transplantation. After receiving both lung transplants, they were all treated with anti-rejection drugs tacrolimus or mycophenolate mofetil, and combined with antiviral and/or rituximab. The time from transplantation to diagnosis of PTLD was four years, seven months, and five months, respectively. Two patients died one month and five months after initial diagnosis, and one patient was alive with no disease after one year. Histologically, all cases were monomorphic B-cell PTLD (diffuse large B-cell lymphoma, unspecified), and the tumor cells were positive for Epstein-Barr virus by in situ hybridization; one of the late-onset patients had herpes simplex virus infection.Conclusions:PTLD in the post-transplant lung tissue shows unique morphology and clinical characteristics, and is closely related to Epstein-Barr virus infection. Patients who receive lung transplantation due to COPD are more susceptible to develop PTLD, while late-onset ones occur more commonly in the hilum of lungs, and the prognosis is relatively poor.

Objective This study proposes a chairside digital design and manufacturing method for band and loop space maintainers and preliminarily validates its clinical feasibility.Methods Clinical cases of 10 children requiring space maintenance caused by premature loss of primary teeth were collected.Intraoral scan data of the affected children were also collected to establish digital models of the missing teeth.Using a pediatric band and loop space maintainer de-sign software developed by our research team,a rapid personalized design of band and loop structures was achieved,and a digital model of an integrated band and loop space maintainer was ultimately generated.A chairside space maintainer was manufactured through metal computer numerical control machining for the experimental group,whereas metal 3D printing in the dental laboratory was used for the control group.A model fitting assessment was conducted for the space maintainers of both groups,and senior pediatric dental experts were invited to evaluate the clinical feasibility of the space maintainers with regard to fit and stability using the visual analogue scale scoring system.Statistical analysis was also performed.Results The time spent in designing and manufacturing the 10 space maintainers of the experimental group was all less than 1 h.Statistical analysis of expert ratings showed that the experimental group outperformed the control group with regard to fit and stability.Both types of space maintainers met clinical requirements.Conclusion The chairside digital design and manufacturing method for pediatric band and loop space maintainers proposed in this study can achieve same-day fitting of space maintainers at the first appointment,demonstrating good clinical feasibility and significant potential for clinical application.