Objective To investigate the relationship between hepatitis B virus (HBV) basic core promoter(BCP)/precore(PreC) mutations and severity of liver dis ease. Methods In 113 patients chronically infected with HBV, do uble mutations in BCP(T1762/A1764) and PreC mutation(A1896) were determined by INNO-LiPA and HB V genotype was determined by S gene sequencing. Results Whether in all patients or in patients infected by single genotype C, compared with AsC, the prevalence of double mutations in BCP(T1762/A1764) was higher in patients with CHB, LC and HCC[(24.1% vs 2.8%,? 2=5.93, P0.05). Conclusions The doubl e mutations in BCP(T1762/A1764 ) may be related to progressive liver disease in patients with chronic HBV infec tion.

Objective To investigate the potential role of disc repositioning and condyle restoration in the treatment of type Ⅲ traumatogenic temporomandibular joint (TMJ) ankylosis. Methods Eight patients including four females and four males at age range of 7-22 years (mean 13.6 years) were enrolled in this study. The patients suffered from traumatogenic TMJ ankylosis for 1-12 years. The preoperative interincisal opening distances ranged from 2 mm to 10 mm. During surgery, the traumatogenic callus of the lateral condyle process was removed, the condyle process was formed, and then the dislocated disc was sutured to the articular capsule or soft tissues around. Results All patients were followed up for 6-38 months and the last follow-up examination showed that the average interincisal opening distance was 30 mm. No recurrence or TMJ symptoms were found during the period of follow-up. Conclusions Disc repositioning and condyle restoration has the advantages of simple procedures, minor trauma and little recurrence and proves to be a feasible and effective method for the treatment of type Ⅲ traumatogenic TMJ ankylosis.

Objective To study the influence of postnatal age and season of sample collection on congenital hypothyroidism (CH) screening and to determine the appropriate cut-off value. Method From January 2015 to December 2017, neonatal thyroid stimulating hormone (TSH) screening data in Guangzhou were retrospectively analysed. The infants were assigned into four groups according to sampling postnatal age:24～＜48 h, 48～＜72 h, 3～＜7＜d and≥7 d, and assigned into another four groups according to their birth seasons. Based on the data of 2015 and 2016, the cut-off value of TSH for hypothyroidism were adjusted. The data of 2017 were used to verify the accuracy of the adjusted cut-off value. The cut-off value was determined based on the receiver operating characteristic (ROC) curve and percentile method. Specificity, sensitivity, positive predictive value (PPV) and negative predictive value (NPV) of the cut-off value were also calculated. Result A total of 459854 newborns were screened from 2015 to 2016. 7329 were positive in preliminary screening, 371 were still positive after recall for re-examination, and 318 were confirmed with CH eventually. The optimal TSH cut-off value calculated using ROC curve was 9 mIU/L, with a percentage of 98.7. The cut-off value with sampling time≥48 h was set to 9 mIU/L in spring, summer and autumn, and 10 mIU/L in winter. The cut-off of sampling time 24～＜48 h was set to 10 mIU/L in all seasons. The data of 264993 newborns screened in 2017 were verified using the adjusted cut-off value. The overall positive rate was reduced from 1.27％to 1.02％, and the PPV was increased from 6.07％to 7.58％without adding false negative cases. Conclusion Adjusting cut-off values of TSH for CH screening according to postnatal age and season can effectively reduce false positive rates.

Objective To explore the incidence and severity of hepatic adverse events (AEs) and identify factors associated with hepatic AEs in patients with chronic myeloid leukemia (CML) in chronic phase (CP) treated with tyrosine kinase inhibitors (TKIs).Methods Liver biochemistry parameters [including ALT(alanine aminotransferase),AST(aspartate aminotransferase),ALP(alkaline phosphatase),and TBil(total bilirubin)] during the first 6 months on imatinib (Gleevec(R)),dasatinib (Sprycel(R)) or nilotinib (Tasigna(R)) in CML-CP patients were collected and analyzed retrospectively.Results A total of 436 patients were enrolled in this study,including 271 with imatinib,58 with dasatinib,and 107 with nilotinib.The incidences of any abnormality of liver injury were 21.8％(59/271),15.5％(9/58) and 32.7％(35/107) in the imatinib,dasatinib and nilotinib groups,respectively.Most of the hepatic AEs were CTCAE grade 1 or 2 and mild or moderate liver injury except 1.9％ of TBil CTCAE grade 3 in the nilotinib group.Multivariate analyses showed nilotinib [OR=2.9(1.3-6.6),P=0.012;OR=4.4(1.2-15.6),P=0.023] and male gender [OR=2.3(1.4-3.9),P=0.002;OR=3.0(1.2-7.6),P=0.018] were significantly associated with moderate liver impairment.Conclusions TKIs including imatinib,dasatinib and nilotinib were well tolerated with mild to moderate hepatic AEs in CML-CP patients.Nilotinib and male sex were associated with occurrence of liver biochemistry abnormalities and moderate hepatic injury.

Objective: To explore the correlation between the level of anti-mitochondrial antibody (AMA) and clinical indicators of first visited primary biliary cholangitis (PBC) patients with positive AMA. Methods: From January 2013 to December 2016, the clinical data of 1 323 patients with positive AMA and/or AMA-M2 detected for the first time were collected through the Information System of Peking University People′s Hospital. Among them, 183 were detected by indirect immunofluorescence assay, 431 were measured by immunoblotting, and 709 were determined by enzyme-linked immunosorbent assay (ELISA). Patients were divided into undiagnosed PBC group (non-PBC group, 973 cases) and newly diagnosed PBC group (new-PBC group, 350 cases including 268 cases of non-liver cirrhosis and 82 cases of liver cirrhosis); among 709 cases detected by ELISA, there were 567 cases in the non-PBC group and 142 cases in the new-PBC group (115 cases of non-liver cirrhosis PBC group and 27 cases of liver cirrhosis PBC group). Among 183 cases determined by indirect immunofluorescence assay, there were 118 cases in the non-PBC group and 65 cases in the new-PBC group. Among them 69 cases with low AMA titer (1∶40—1∶80) (53 cases of non-PBC group and 16 cases of new-PBC group), 95 cases with medium titer (1∶160—1∶320) (59 cases of non-PBC group and 36 cases of new-PBC group) and 19 cases with high titer (≥1∶640) (six cases of non-PBC group and 13 cases of new-PBC group). AMA levels among groups were compared, and its correlation with clinical serology and cirrhosis indicators of PBC including immunoglobulin (Ig)G, IgM, platelet, alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyltranspeptadase (GGT), alkaline phosphatase (ALP), serum total protein, serum albumin, total bilirubin (TBil), total cholesterol (TC), and aspartate aminotransferase to platelet ratio index (APRI) and fibrosis (Fib-4) was analysed. Mann-Whitney U test, Kruskal-Wallis test, and linear regression analysis were performed for statistical analysis. Results: By ELISA method, the median titer of AMA-M2 of 709 patients was 53 RU/mL, the serum AMA and AMA-M2 levels of new-PBC group were both higher than those of non-PBC group (1∶320 vs. 1∶80, 180 RU/mL vs. 47 RU/mL), and the differences were statistically significant (χ² = 14.111, Z = -7.531, both P < 0.01). In non-PBC group, the AMA-M2 value was positively correlated with age, serum IgG, IgM, AST, GGT, ALP, serum total protein and TC, all of which were statistically significant (Rho = 0.114, 0.108, 0.337, 0.089, 0.197, 0.086, 0.121 and 0.073, all P<0.05). In new-PBC group, AMA-M2 value was positively correlated with age, IgM, serum total protein and TC, however was negatively correlated with platelet count, all of which were statistically significant (Rho = 0.218, 0.483, 0.230, 0.161, and -0.183, all P<0.05). The median values of serum AMA and AMA-M2 of PBC without liver cirrhosis group were both tended to be lower than those of PBC with liver cirrhosis (1∶160 vs. 1∶320; 174 RU/mL vs. 495 RU/mL), however the differences were not statistically significant (both P>0.05). AMA-M2 value of patients in PBC with liver cirrhosis group was positively correlated with IgM level (r = 0.38, P = 0.039), but was not correlated with APRI and Fib-4 (all P > 0.05). The median of AMA value of 183 patients who underwent indirect immunofluorescence test was 1∶160. In non-PBC group, the IgM levels of patients with low, medium and high AMA titers gradually increased (the median levels were 1.2, 1.7 and 1.8 g/L, respectively); in new-PBC group, the levels of IgM, GGT and ALP of patients with low, medium and high AMA titers gradually increased (median IgM levels were 1.5, 3.7 and 4.1 g/L, respectively; GGT levels were 144, 182 and 317 U/L, respectively; and ALP levels were 137, 168 and 221 U/L, respectively), and the differences were statistically significant (χ² =6.260, 7.081, 8.030, 15.226, all P<0.05). In non-PBC group, the median level of serum AMA-M2 of men was lower than that of women (41 RU/L vs. 50 RU/L), and the difference was statistically significant (Z = -2.945, P = 0.003). In new-PBC group, the median level of serum AMA-M2 of men tended to be lower than that of women (113 RU/mL vs. 206 RU/mL), but the difference was not statistically significant (P=0.257). Conclusion Serum AMA level is correlated with many clinical parameters and may be related with the disease severity in patients with PBC.

Objective: To understand the basic information of anti-mitochondrial antibody (anti-AMA)-positive patients after initial diagnosis, and to set groundwork for further exploring the clinical significance of AMA in various diseases. Methods: Demographic data and related clinical information recorded through the Information System of Peking University People's Hospital from January 2013 to December 2016 were collected. Patients whose AMA and/or AMA-M2 first- tested as positive were recorded. Complications were classified according to the International Classification of Diseases. Results: A total of 1323 AMA positive cases were discovered for the first time. Among them, 78.0% were women, and the age of initial diagnosis was 56.8 ± 16.0 years. The first three initially diagnosed departments were rheumatology and immunology (37.4%), liver Disease (15.9%) and hematology (15.9%) relevant to musculoskeletal and connective tissue diseases (45.2%), hematology and hematopoietic organs and immune diseases (30.6%) and circulatory system diseases (29.7%). There were 297 newly confirmed cases of primary biliary cholangitis (PBC); accounting for 89.2% of women, and the age of initial diagnosis was 60.1 ± 12.4 years. The top three departments of initially diagnosed as PBC were liver disease (37.7%), rheumatology (33.0%) and gastroenterology (15.2%), of which 39.7% had musculoskeletal and connective tissue diseases, 27.9% had circulatory diseases, and 24.9 % were combined with endocrine and metabolic diseases. Conclusion Besides PBC and other autoimmune diseases, AMA and / or AMA-M2 positivity can be observed in a variety of diseases in several clinical departments, and its clinical significance remains to be further clarified.