[Real-world study on the efficacy and safety of first-line antiviral therapy for chronic hepatitis B].

Objective: To clarify the clinical efficacy of first-line oral antiviral drugs tenofovir alafenamide (TAF), tenofovir disoproxil fumarate (TDF), and entecavir (ETV) in the treatment of chronic hepatitis B (CHB) and their safety profiles with lipid, bone, and kidney metabolism. Methods: 458 CHB cases diagnosed and treated at the Department of Hepatology of Integrated Traditional Chinese and Western Medicine of the Third Hospital of Hebei Medical University from February 2010 to November 2022 were selected. TAF (175 cases), TDF (124 cases), and ETV (159 cases) were used as therapies. At 24 and 48 weeks, the virology, biochemical response, changes in liver stiffness measurement (LSM), and bone, kidney, and blood lipid metabolism safety profiles were compared and analyzed. Results: After 24 and 48 weeks of TAF, TDF, and ETV therapy, HBV DNA load decreased by 3.28, 2.69, and 3.14 log10 IU/ml and 3.28, 2.83, and 3.65 log10 IU/ml, respectively, compared with the baseline, and the differences between the three groups were statistically significant, P < 0.001. The complete virological response rates were 73.95%, 66.09%, 67.19%, and 82.22%, 72.48%, and 70.49%, respectively. The incidence rates of low-level viremia were 16.67%, 21.70%, and 23.08%, while poor response rates were 1.11%, 3.67%, and 4.10%. ALT normalization rates were 64.00%, 63.89%, 67.96%, and 85.33%, 80.56%, 78.64%, respectively, and there was no statistically significant difference among the groups. LSM was significantly improved in patients treated with TAF for 48 weeks, P = 0.022. Serum phosphorus level gradually decreased with the prolongation of TDF treatment. The TAF treatment group had a good safety profile for kidney, bone, and phosphorus metabolism, with no dyslipidemia or related occurrences of risk. Conclusion: There are some differences in the therapeutic effects of first-line anti-HBV drugs. TAF has the lowest incidence of low-level viremia after 48 weeks of treatment and has a good safety profile in kidney, bone, and blood lipid metabolism.

[Clinical value of plasma scaffold protein SEC16A in evaluating hepatitis B-related liver cirrhosis and hepatocellular carcinoma].

Objective: To investigate the clinical value of plasma scaffold protein SEC16A level and related models in the diagnosis of hepatitis B virus-related liver cirrhosis (HBV-LC) and hepatocellular carcinoma (HBV-HCC). Methods: Patients with HBV-LC and HBV-HCC and a healthy control group diagnosed by clinical, laboratory examination, imaging, and liver histopathology at the Third Hospital of Hebei Medical University between June 2017 and October 2021 were selected. Plasma SEC16A level was detected using an enzyme-linked immunosorbent assay (ELISA). Serum alpha-fetoprotein (AFP) was detected using an electrochemiluminescence instrument. SPSS 26.0 and MedCalc 15.0 statistical software were used to analyze the relationship between plasma SEC16A levels and the occurrence and development of liver cirrhosis and liver cancer. A sequential logistic regression model was used to analyze relevant factors. SEC16A was established through a joint diagnostic model. Receiver operating characteristic curve was used to evaluate the clinical efficacy of the model for liver cirrhosis and hepatocellular carcinoma diagnosis. Pearson correlation analysis was used to identify the influencing factors of novel diagnostic biomarkers. Results: A total of 60 cases of healthy controls, 60 cases of HBV-LC, and 52 cases of HBV-HCC were included. The average levels of plasma SEC16A were (7.41 ± 1.66) ng/ml, (10.26 ± 1.86) ng/ml, (12.79 ± 1.49) ng /ml, respectively, with P < 0.001. The sensitivity and specificity of SEC16A in the diagnosis of liver cirrhosis and hepatocellular carcinoma were 69.44% and 71.05%, and 89.36% and 88.89%, respectively. SEC16A, age, and AFP were independent risk factors for the occurrence of HBV-LC and HCC. SAA diagnostic cut-off values, sensitivity, and specificity were 26.21 and 31.46, 77.78% and 81.58%, and 87.23% and 97.22%, respectively. The sensitivity and specificity for HBV-HCC early diagnosis were 80.95% and 97.22%, respectively. Pearson correlation analysis showed that AFP level was positively correlated with alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBil), and γ-glutamyltransferase (GGT) with P < 0.01, while the serum SEC16A level was only slightly positively correlated with ALT and AST in the liver cirrhosis group (r = 0.268 and 0.260, respectively, P < 0.05). Conclusion: Plasma SEC16A can be used as a diagnostic marker for hepatitis B-related liver cirrhosis and hepatocellular carcinoma. SEC16A, combined with age and the AFP diagnostic model with SAA, can significantly improve the rate of HBV-LC and HBV-HCC early diagnosis. Additionally, its application is helpful for the diagnosis and differential diagnosis of the progression of HBV-related diseases.

[Precise immunological classification guidance for early initiation of antiviral therapy in patients with chronic HBV infection].

Chronic hepatitis B virus (HBV) infection is a major problem affecting global public health. Appropriate antiviral therapy use can prevent or delay the occurrence of liver cirrhosis and liver cancer. Precise immunological classification can be helpful to formulate personalized therapy and management plans for HBV-infected patients. Antiviral therapy should be started early in those who meet antiviral indications, and nucleos(t)ide analogue therapeutic regimens alone or in combination with pegylated interferon alpha should be optimized according to antiviral therapy response, in order to maximize the realization of virological and serological response, improve clinical cure rate, and enhance long-term prognosis.

[Genetic mutation profiles for children with congenital hypothyroidism in Fujian province].

Objective: To explore the mutation characteristics of pathogenic genes in children with congenital hypothyroidism (CH) in Fujian. Methods: The clinical data of 116 unrelated CH children diagnosed in Fujian Provincial Maternal and Child Health Hospital from January 2019 to September 2020 were retrospectively analyzed, including 50 females and 66 males, with an average age of (20±10) days at diagnosis. Targeted exome sequencing technology was used to detect the mutation frequency, type and distribution characteristics of 29 genes related to thyroxine synthesis or thyroid development. Results: Three hundred and fifty-one potential functional mutations were detected in 105 of 116 CH patients, with a detection rate of 90.5% (105/116). DUOX2 (66.4%, 77/116) was the most frequent mutated gene, followed by TG (23.3%, 27/116), DUOXA1 (23.3%, 27/116), and TPO (12.1%, 14/116), which were all involved in thyroid hormone synthesis. Among the 105 children with CH, 70 cases carried double allele mutation. Except for 3 cases of thyroid dysplasia related genes (2 cases of TSHR and 1 case of GLIS3), the rest were also related to thyroid hormone synthesis. The gene with the highest carrier rate was DUOX2 (68.8%, 59/70), followed by TG (8.6%, 6/70), TPO (4.3%, 3/70), DUOXA2 (1.4%, 1/70) and DUOXA1 (1.4%, 1/70). Conclusion: The main mutated genes in CH children in Fujian are the key genes involved in thyroid hormone synthesis, such as DUOX2, TG and TPO.

[Emphasis on targeted and immunotherapy for liver injury in hepatocellular carcinoma].

Treatment with molecular targeted drugs and immune checkpoint inhibitors (ICIs) has become the first-line treatment options for unresectable HCC (hepatocellular carcinoma) and is also one of the anti-recurrence therapies of choice for patients at high risk of recurrence following radical treatment. First-line molecular targeted drugs combined with ICIs or dual-immune therapy significantly increase the median overall survival and objective response rate compared to single-targeted drugs. Targeted therapy and immunotherapy are suitable for HCC patients with Child-Pugh classes A~B. Liver damage caused by targeted drugs includes abnormal transaminases and bilirubin and, in severe cases, hypoproteinemia, ascites, and other occurrences. ICIs-associated immune-mediated hepatitis (IMH) mostly occurs within one to three sessions of treatment (4~12 weeks) and can be treated with glucocorticoids. However, immunosuppressants such as mycophenolate mofetil may be used as necessary.Targeted drugs and ICIs with different mechanisms of action can be selected based on the systemic condition and tumor treatment needs following the restoration of normal liver function.

[Strategies for liver injury caused by hepatocellular carcinoma targeted therapy].

Primary hepatocellular carcinoma has a high degree of malignancy, insidious onset, and rapid progression that seriously threatens human life and health. With the continuous deepening of the study of the molecular characteristics of tumors, molecular targeted drugs have become an important treatment method for patients with advanced liver cancer. Liver injury is one of the common adverse reactions of targeted drugs, which needs to be paid attention to. This paper mainly briefly expounds on the occurrence condition, mechanism, risk factors, diagnosis, and treatment of liver injury caused by hepatocellular carcinoma targeted therapy in order to provide a reference for the safe clinical application of targeted drugs.

[Treatment of lumbar degenerative diseases with recapping laminoplasty and nerve root canal's decompression preserving the continuity of supraspinous ligament].

Objective: To explore the clinical effect of lumbar discectomy and nerve root canal's enlargement preserving the continuity of supraspinous ligament in the treatment of lumbar degenerative disease. Methods: The data of patients with lumbar degenerative disease who underwent operation from 2016 to 2018 were analyzed retrospectively, and the patients were divided into two groups according to the different operation. The treatment group (17 cases) was treated with recapping laminoplasty, lumbar discectomy and nerve root canal's enlargement, and the control group (28 cases) was treated with total laminectomy, nerve root canal's enlargement, lumbar discectomy, interbody fusion and internal fixation (PLIF). All patients were followed up for 12 to 27 months (mean 17.8 months). Japanese Orthopaedic Association Scores(JOA) and visual analogue scale(VAS) of pain were used to evaluate the clinical effect before and after the operation, lumbar dynamical X-ray and Cobb angle were collecting for imaging evaluation, and the adjacent segment degeneration at the last follow-up was recorded. Results: There was no significant difference in preoperative JOA score, VAS score and Lumbar Cobb angle between the two groups (all P>0.05). The operation time in the treatment group was shorter than that in the control group, and the blood loss during operation in the treatment group was lower than that in the control group, the bed rest time of the treatment group after operation was shorter than that in the control group ((79±14) vs (118±17) min, (151±38) vs (324±70) ml and (3.4±0.7) vs (4.3±1.0) d,respectively; t=-8.508, -10.724, -3.244, all P<0.01). In addition, compared with the control group, the volume of postoperative drainage in the treatment group also decreased significantly (t=-5.637, P<0.01). There was no significant difference in JOA score between the two groups 1 year after the operation (P>0.05), but there was significant difference in VAS score between the two groups, the treatment group was better than the control group (P<0.05). Compared with the control group, the lumbar Cobb angle in the treatment group increased significantly one year after the operation (55.3°±3.2° vs 38.4°±6.2°, t=10.391, P<0.05). During the follow-up, no loosening or fracture of the implants was found in all patients. Conclusion: Treatment of lumbar degenerative diseases with recapping laminoplasty and nerve root canal's decompression preserving the continuity of supraspinous ligament by ultrasound osteotome has the same clinical effect as PLIF. It has the advantages of shortening operation time, less bleeding, better maintenance of lumbar lordosis after operation and reduction of adjacent segment degeneration.

[Clinical study of yiqi huoxue recipe in the treatment of liver fibrosis of chronic viral hepatitis].

Objective: To clarify the clinical efficacy of Yiqi Huoxue recipe in the treatment of liver fibrosis of chronic viral hepatitis. Methods: An open, positive-drug, parallel-controlled study method was applied. A total of 207 cases of liver fibrosis with chronic hepatitis B and C diagnosed with liver biopsy and transient elastography were selected. According to the principle of syndrome differentiation in traditional Chinese medicine, self-made Yiqi Huoxue recipe (n = 127) and Fuzheng Huayu capsule (n = 80) were used for the treatment course of 24-48 weeks. Change score of TCM symptom, liver biochemistry, liver stiffness measurement (LSM), and noninvasive liver fibrosis index [aspartate transaminase to platelet ratio index (APRI), and fibrosis-4 score (FIB-4)] were compared between the two groups to evaluate the therapeutic effect of Yiqi Huoxue recipe on liver fibrosis. Results: Yiqi Huoxue recipe group and Fuzheng Huayu capsule group baseline LSM, APRI and FIB-4 was compared, and there was no statistically significant difference between them (P > 0.05). Yiqi Huoxue recipe and Fuzheng Huayu capsule received patients had improved symptom scores to a certain extent. Hepatic facies, discomfort over liver area, and soreness and weakness of waist and knees (P < 0.05) was significantly improved in Yiqi Huoxue recipe than Fuzheng Huayu capsule. Liver biochemical indicators (ALT, AST, GGT, ALP) had gradually relapsed with the extension of treatment duration and the normalization rate between the two groups after 24 to 48 weeks had reached 100% vs. 100%, 100% vs. 93.8%, 96.8% vs. 92.3% and 87.5% vs. 81.8%. After 12 weeks of treatment, APRI values ​​of both groups had significantly reduced, and after 48 weeks of treatment, LSM values of both groups had significantly improved. Moreover, Yiqi Huoxue recipe FIB-4 score was significantly improved after 48 weeks of treatment, and the difference was statistically significant compared to Fuzheng Huayu capsule group (P < 0.05). After treatment, LSM, APRI, and FIB-4 total effectiveness in the two groups were 80.0% vs. 63.6%, P = 0.046; 68.4% vs. 52.0%, P = 0.052; 68.4% vs. 62.0%, P = 0.437, respectively. LSM total effectiveness was significantly higher in Yiqi Huoxue recipe treated group than Fuzheng Huayu capsule group. Conclusion: Traditional Chinese medicine Yiqi Huoxue decoction can be used as an optimal treatment for liver fibrosis of chronic viral hepatitis.

[New mutation site of SEC23B gene in type â ¡ congenital erythrocythememia anemia: one case report and literatures review].

Objective: To enrich the gene mutation sites and accumulate treatment experience of congenital dyserythropoietic anemia (CDA) type Ⅱ by reporting one case of CDA patient with new mutation site of SEC23B and was successfully treated by homozygous allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: The mutation within SEC23B gene in a child case with the reduced hemoglobin for more than 3 months, and his family were analyzed in combination with literatures review. Results: A 3-day 5-month female child was admitted due to "decreasing hemoglobin for more than 3 months" , blood routine test showed HGB 44 g/L, positive for acid hemolysis test (Ham test) . Bone marrow showed that the proportion of erythroid line was 69%, mainly middle and late juvenile erythrocytes, binuclear and odd nucleated erythrocytes could be observed, and nuclear fragmentation and nuclear budding could be seen occasionally in nucleated erythrocytes, transmission electron microscopy disclosed that bone marrow harbored the typical double-layer membrane structure of nuclear erythrocytes. There were two unreported new mutation sites in the SEC23B gene, including 1504 G>C/wt and c. 2254-2255 insert A/wt. The two mutations were derived from the father and mother of the child respectively. At the late stage, the child was successfully treated with allo-HSCT, the original mutation turned negative. Conclusion: This study reported the mutation type of SEC23B gene insertion for the first time in China. Allo-HSCT could be utilized as a treatment for CDA.

[The efficiency of 23 G vitrectomy combined with preoperative subtenon injection of triamcinolone acetonide for treatment of retinal detachment associated with choroidal detachment].

Objective: To evaluate the efficiency of 23 G vitrectomy combined with preoperative subtenon injecfion of triamcinolone acetonide for treatment of rhegmatogenous retinal detachment associated with choroidal detachment. Methods: A retrospective analysis. Forty-eight (16 males and 32 females, aged 57.3±13.9) consecutive patients (48 eyes) who were diagnosed with rhegmatogenous retinal detachment associated with choroidal detachment and received 23 G vitrectomy at the Eye Hospital of Wenzhou Medical University during January 2012 and January 2015 were enrolled. Twenty-three eyes were treated with subtenon injection TA 5 d before the planned 23 G vitrectomy (TA group). Twenty-five eyes were treated with dexamethasone 3 to 5 d before the planned vitrectomy (Dex group). Type-B ultrasonic, intraocular pressure, best corrected visual acuity examinations were conducted for all eyes on admission day, preoperatively and at 1 month, 3 month postoperatively, and during the last visit. The rate of reattachment, change of height of choroidal detachment, intraocular pressure, best corrected visual acuity, and the complication of the eyes between the two groups were compared. All patients were followed up at least half a year after the repair surgery. Results: The intraocular pressure of the TA group was higher than the Dex group[(8.58±3.83)mmHg vs. (6.70±2.49)mmHg (1 mmHg=0.133 kPa), (t=2.032)], and the height of choroidal detachment was lower in TA group [0.90(0.00, 3.84)mm vs. 4.03(1.05, 5.38)mm, Z=-2.569, P<0.05]. There is no statistic difference between the reattachment rate of the two groups [95.7%(22/23) vs. 76.0%(19/25), χ(2)=2.304, P=0.129], but it seems it was better in TA group. The best corrected visual acuity results of the last visit was better in TA group than Dex group [(0.91±0.54) vs. (1.25±0.62), t=-2.034, P=0.048]. The rate of hypertention was higher in TA group than Dex group at 1 month, 3 month postoperatively(χ(2)=2.304, 5.648, P<0.05), while there was no statistic difference of hypertention rate during last visit between the two groups (χ(2)=0.006, P=0.941). Conclusions: The treatment of 23 G vitrectomy combined with subtenon injection of triamcinolone acetonide can improve the intraocular pressure, reduce the height of choroidal detachment, and improve the best corrected visual acuity after the surgery, but it may cause heyertenion. (Chin J Ophthalmol, 2018, 54: 252-257).

Identification of the novel HLA-B*40:333 allele by polymerase chain reaction sequence-based typing.

HLA-B*40:333 differs from HLA-B*40:01:01 by a single nucleotide substitution at position 380 T>C.

Genetic study of early-onset Graves' disease in the Chinese Han population.

Graves' disease (GD) is a complex autoimmune disorder in which genetic and environmental factors are both involved in the pathogenesis. Early-onset patients have a shorter exposure time to environmental factors and are, therefore, good models to help understand the genetic architecture of GD. Based on previous studies of early-onset GD, 11 single nucleotide polymorphisms (SNPs) and their related SNPs (R2 > .6), SNPs located within a ±1-Mb region of the FOXP3 gene, and 20 validated GD-risk SNPs were selected and screened for genotyping in 3735 GD and 4893 control patients to investigate whether early-onset GD is a subtype of GD with distinct susceptibility genes. Ultimately, we did not confirm the reported genetic markers of early-onset GD in our Chinese Han population but found that a GD-risk SNP located in the human leukocyte antigen class I region-rs4947296-was more strongly correlated with early-onset GD than non-early-onset GD. In addition, heterogeneity analysis of GD patients suggests that it may be more reasonable to define early-onset GD as an onset age ≤20 years.

Identification of the novel HLA-DQB1*03:181 allele in a Chinese leukemia patient.

HLA-DQB1*03:181 has one nucleotide change from HLA-DQB1*03:05:01 at position 470C>G.

Identification of the novel HLA-B*13:98 allele in a Chinese individual.

HLA-B*13:98 differs from HLA-B*13:02:01 by a single nucleotide substitution at position 193 A>G.

[Mechanism of action of Yiqi Huoxue Recipe in regulating autophagy and reversing liver fibrosis].

Objective: To investigate the role and mechanism of action of Yiqi Huoxue Recipe (YQHXR) in regulating autophagy and reversing liver fibrosis in rats with carbon tetrachloride (CCl4)-induced liver fibrosis. Methods: Healthy male Wistar rats were intraperitoneally injected with a mixture of CCl4 (30%) and olive oil (70%) twice a week for 8 weeks to establish a rat model of liver fibrosis. The rats administered normal diet were used as control group. Furthermore, YQHXR or Fuzheng Huayu Recipe (FZHYR) was intragastrically administered to the rats. The serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were measured using an automatic biochemical analyzer. Hematoxylin-eosin (HE) staining and Masson staining were performed to observe the degree of fibrosis in rat liver. The protein expression of α-smooth muscle actin (α-SMA) and type I collagen α1 chain (Col1A1) in liver tissue was measured by immunohistochemistry. Furthermore, the mRNA and protein expression of α-SMA, Col1A1, autophagy-related protein 7 (Atg7), microtubule-associated protein 1 light chain 3 (LC3), and ubiquitin-binding protein (SQSTM1/p62) were determined using qRT-PCR and Western blotting, respectively. Comparison between multiple groups was made by one-way analysis of variance, and comparison between any two groups was made using the LSD test. P < 0.05 was considered as statistically significant. Results: The YQHXR group and FZHYR group had significantly lower serum levels of ALT and AST than the model group (ALT: 66.8±10.42 U/L and 73.2±10.33 U/L vs 106.80±18.24 U/L, F = 31.672, P < 0.001; AST: 122.6±16.65 U/L and 125.4±16.92 U/L vs 278.4±66.14 U/L, F = 25.539, P < 0.001). The pathological grades of hepatic fibrosis were S5.64±0.22, S3.70±0.35, and S3.90±0.34 in the model group, YQHXR group, and FZHYR group, respectively (F = 362.188, P < 0.001). Compared with the control group, the YQHXR group and FZHYR group had significantly reduced mRNA and protein expression of α-SMA, Col1A1, Atg7, and LC3B and significantly increased expression of p62 (all P < 0.05), and the differences were greatest in the YQHXR group. Conclusion: YQHXR and FZHYR can prevent or reverse liver fibrosis by regulating hepatocyte autophagy and inhibiting hepatic stellate cell activation and collagen deposition.

[Clinicopathological features of early- and late-stage primary biliary cirrhosis: a comparative study].

OBJECTIVE: To investigate the clinicopathological features of different stages of primary biliary cirrhosis (PBC), and to provide a basis of evidence-based medicine for early identification and effective treatment of this disease. METHODS: A total of 130 patients with pathologically confirmed PBC and complete clinical data were enrolled and divided into early-stage group and late-stage group based on pathological results. A retrospective analysis was performed for patients' general information, clinical manifestations, laboratory examinations, and pathological changes. RESULTS: The PBC patients had a mean age of 43.5±7.1 years, with middle-aged female patients accounting for 89%. The most common symptom was fatigue, followed by jaundice, pruritus, and abdominal distension in the late stage. Of all patients, 11.5% were complicated by autoimmune disease. The level of aminotransferases tended to decrease with the progression of PBC and showed no significant differences between the two groups (P > 0.05). Most patients showed an increase in serum bilirubin, mainly direct bilirubin; serum total bilirubin and direct bilirubin tended to increase with disease progression and showed significant differences between the two groups (P < 0.01). The patients showed increases in the serum levels of alkaline phosphatase (ALP) andγ-glutamyl transpeptidase (GGT), but with the disease progression, the serum level of ALP increased and that of GGT decreased; the serum levels of ALP and GGT showed no significant differences between the early- and late-stage groups (P > 0.05). The positive rate of antimitochondrial antibody was 85%. The histopathological changes of PBC included severe lesions in the portal area and surrounding areas and slight lobular lesions. In the early stage, there were injuries of the interlobar bile ducts, proliferation of small bile ducts, aggregation and invasion of mononuclear cells in surrounding tissues, and the formation of lymphoid follicle-like structure; in the late stage, there were fibrotic expansion of the portal area, formation of fibrous septa and pseudolobuli, and even liver cirrhosis. CONCLUSION: PBC is commonly seen in middle-aged women and has an insidious onset. Early- and late-stage PBC have their own clinicopathological features. As for patients with no characteristic changes in serological test, liver biopsy should be performed to give a confirmed diagnosis and avoid missed diagnosis and misdiagnosis.

[Clinical features of drug-induced autoimmune hepatitis and drug-induced liver injury: a comparative analysis].

OBJECTIVE: To investigate the clinical features of drug-induced autoimmune hepatitis (DIAIH) and its therapeutic strategies, and to provide a reference for early diagnosis and treatment of this disease and prevention of chronicity. METHODS: The clinical data of 116 patients with drug-induced liver injury (DILI) or DIAIH confirmed by medical history, liver biochemistry, and liver biopsy were analyzed retrospectively. Among these patients, 13 had DIAIH and 103 had simple DILI (30 patients in the hepatocyte-type group and 73 in the cholestasis/mixed-type group). The population characteristics, major drugs inducing the diseases, clinical manifestations, liver biochemical parameters, liver pathological features, and clinical outcome were compared between groups. The Kruskal-wallis H test was used for comparison and the Mann-Whitney U test was used for comparison between any two groups. The chi-square test was used for comparison of categorical data, and the R×C chi-square test was used for comparison of rates between the three groups; in the case of significant differences, the R×C contingency table was used for comparison between any two groups. RESULTS: The patients with DIAIH had a mean age of 53.54±8.28 years, and the mean age was 35.13±13.46 and 46.99±14.82 years for the hepatocyte-type group and cholestasis/mixed-type group, respectively. The disease was mainly induced by a combination of various drugs. The patients with DIAIH had significantly higher serum levels of alanine aminotransferase, aspartate aminotransferase, γ-glutamyltransferase, and alkaline phosphatase and a significantly higher positive rate of anti-nuclear antibody than those with DILI (all P < 0.05). In patients with DIAIH, the liver pathological features and the features of response to treatment were as follows: obvious interface hepatitis, proliferation of small bile ducts, and mixed inflammatory cell infiltration in the portal area, including eosinophils and plasma cells, and the short-term corticosteroid therapy had a good therapeutic effect. CONCLUSION: DIAIH has a low incidence and is more common in the female population, with the features of tissue injury in both DILI and autoimmune hepatitis. The short-term corticosteroid therapy can prevent disease progression and reduce chronicity.

[Correlation of FibroTouch and FibroScan with the stage of primary biliary cirrhosis].

Objective: To investigate the diagnostic value of FibroTouch and FibroScan for the stage of primary biliary cirrhosis (PBC). Methods: A total of 66 PBC patients who visited our hospital from January 2014 to March 2016 were enrolled, and all the patients underwent liver biopsy and FibroTouch and FibroScan tests. Liver stiffness measurement (LSM) was used to assess fibrosis degree, and the receiver operating characteristic (ROC) curve was used to compare the cut-off values, sensitivities, and specificities of these two methods in determining fibrosis stage. The Spearman rank correlation test was used to investigate the correlation between FibroTouch and FibroScan values. Results: The correlation coefficients between FibroTouch or FibroScan values and fibrosis stage determined by liver biopsy were 0.904 and 0.880, respectively (both P < 0.01). The cut-off values of FibroTouch in the diagnosis of PBC with fibrosis stages of ≥S1, ≥S2, ≥S3, and ≥S4 were 6.25 kPa, 9.05 kPa, 11.75 kPa, and 18.95 kPa, respectively, with sensitivities of 89.7%, 94.7%, 80.0%, and 80.0% and specificities of 100%, 100%, 87.0%, and 100%, respectively; the cut-off values of FibroScan were 6.05 kPa, 8.85 kPa, 12.40 kPa, and 16.20 kPa, respectively, with sensitivities of 96.4%, 88.6%, 76.2%, and 100% and specificities of 77.8%, 100%, 86.4%, and 93.0%, respectively. There were no significant differences in the diagnostic performance between FibroTouch and FibroScan in determining fibrosis stage [≥S1 (P = 0.109), ≥S2 (P = 0.853), ≥S3 (P = 0.387), ≥S4 (P = 0.224)]. Conclusion: FibroTouch and FibroScan can be used as noninvasive diagnostic tools for the determination of fibrosis stage and the monitoring of disease progression in PBC patients and have good sensitivity and specificity.

Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21.

Porokeratosis is a rare disorder of epidermal keratinization that is characterized by the presence of a border called the cornoid lamella. Disseminated superficial porokeratosis (DSP) is a subtype of porokeratosis, which is inherited as an autosomal trait. The first locus for DSP was localized to chromosome 18p11.3, but no causative gene has yet been identified. In this study, we recruited and analysed a large six-generation Chinese family with autosomal dominant DSP. The genome-wide screening identified a maximum two-point LOD score of 3.06 at θ = 0.00 with the microsatellite marker D12S78. Fine mapping and haplotype analysis defined a critical region of 38 Mb between D12S326 and D12S79 on chromosome 12q21.2-24.21, which is a probable second locus identified for DSP (DSP2). We sequenced 50 candidate genes in this region, but no causative mutation was found. This study provides a map location for isolation of a gene causing DSP.