As a digestive organ, the liver has the functions of metabolism, synthesis, and detoxification. It is also an immune organ and plays an important role in maintaining anti-infection, autoimmune stability, and anti-tumor. In particular, the liver has unique immunological advantages. Its immune cells can maintain the liver's immune homeostasis and participate in immunoregulation. A variety of immunotherapy is used in clinical trials for the treatment of difficult and critical liver diseases. This review mainly summarizes the recent clinical trials of immunotherapy in chronic hepatitis B, cirrhosis, hepatocellular carcinoma, and autoimmune liver disease.

Objective: Molecular genetics and clinical phenotypic characteristics of 5 alpha reductase deficiency were analyzed. Methods: The genetic results and clinical features classied as Prader grade of external genitalia of 86 children with SRD5A2 mutation seen from 2007 to 2017 at Department of Endocrinology of Beijing Children′s Hospital were analyzed, and the mutation differences in different were compared regions according to the literatures. Results: Among the 86 children, 15 had were homozygous mutations, accounting for 17%, and 71 cases of compound heterozygous mutations accounted for 83%. Totally 172 alleles mutations in this series. The mutation was mainly located on exon 1 and exon 4, in which the mutation frequency of exon 1 was 23.8% (41/172), and the frequency of exon 4 mutation was 55.8% (96/172). A total of 19 mutation types of the SRD5A2 gene in this group were detected, of which 5 were new mutations (p.A228F, p.E57D, p.V124D, p.A117D, p.E197K); 65 patients had p.R227Q mutation, accounting for 76%, while 31 had p.Q6* mutation, accounting for 36%. Other rare types such as p.R246W, p.R103* and so on were also seen in the present study, there was no significant difference between north China and south China (P>0.05). The clinical phenotypes of p.R227Q variation varied, mainly in Prader 3-4, accounting for 82%, while (Prader 0-1) were less, accounting only 2%. The variation of p.Q6* was mainly manifested in Prader 3, accounting for 50%. p.R246Q mainly presented Prader 3. The variation of p.G203S appeared to have Prader 2 and Prader 4-5, accounting for 20% and 73% respectively. There was no significant difference in clinical phenotype corresponding to each protein type (P>0.05) . Conclusion Among the 86 children have identified 19 SRD5A2 mutation types, p.R227Q is a hotspot mutation in Chinese. Variations at different types may have different clinical phenotypes, while the same variations may have different clinical features. There was no significance different in the variation types between the north and the south.

NR5A1 gene mutation is one of the common cause of 46 XY dysplasia (46,XY disorder of sex development,46,XY DSD),which is an autosomal dominant disease.It has wide phenotypes:46,XY gonadal dysplasia is the most common one,site-specific mutations can lead to adrenal dysfunction and may affect the height.In recent years,more and more studies have shown that the mutation of NR5A1 gene can lead to 46,XX ovotesticular DSD and 46,XX testicular DSD.The disease is also characterized by hypergonadotropic hypogonadism,so LH and FSH are high,especially the FSH,leading to a decrease in LH/FSH.The treatment of NR5A1 gene mutation is mainly symptomatic.Gender identification needs to take many factors into consideration.Before puberty,children can use GnRHa to inhibit gonad development and avoid premature ovarian failure.In this review,recent progress of NR5A1 is summarized.

Objective To understand the gender selection and prognosis of children with 46,XY disorders of sex development (DSD) after surgery,and to provide reference for future clinical decision-making.Methods Data of 85 (80 males and 5 females) postoperative patients with 46,XY DSD with follow-up age of 6(4,11) years who were treated at the Department of Endocrinology,Genetics and Metabolism of Beijing Children's Hospital Affiliated to Capital Medical University during the period from September 2009 to April 2018 were retrospectively analyzed.The patients were grouped based on diagnosis.The basis of postoperative gender selection,patient satisfaction and related factors,gender characteristics,and adolescent development were analyzed.The Pre-school Activities Inventory or the Children's Sex Role Inventory were used in the analysis of gender tendency.Mann-Whitney U test was used to compare postoperative gender satisfaction of different factors.The Kruskal-Wallis method was used to compare the postoperative gender satisfaction of each group.Fisher's test was used to compare the follow-up status of male children over 11 years old in each group.Results Among the 85 patients,62 individuals were raised as girls after birth,9 were facultative and 14 as boys.According to the diagnosis,there were 31 individuals in group 1 (with 5α-reductase deficiency),11 individuals in group 2 (with androgen insensitivity syndrome),9 individuals in group 3 (with NR5A1 gene mutation),4 individuals in group 4 (with hypergonadotropic gonadal dysplasia),and 30 indiviudals in group 5 (with unclear diagnosis and normal human choionic gonadotophin test).Among the 71 children who were raised as girls or facultative children after birth,66 selected as boys,and 5 continued as girls (among them,3 individuals were female with passive selection,and 2 individuals of testicular dysplasia with uterus in group 4 and 5 were female with active selection).Among the 71 patients faced with gender selection,only one was unsatisfied,that was a postoperative female.There was no significant difference in postoperative gender satisfaction among different disease diagnoses,surgical age and penis length (x2(H)=6.007,P=0.199;Z=-0.860,P=0.390;Z=-0.438,P=0.661).Fifty-nine of the 85 cases completed the gender tendency scale test and 46 cases (78％) were consistent.In the male patients,45 cases were consistent.Thirteen inconsistent patients (22％) were female or facultative after birth who were 5 years old or older.There was no stigmatization noticed in the inconsistent patients' daily life and school social settings.There were 22 male patients aged 11 years and older.They were 13(12,16) years old.Fourteen (64％) individuals' penile length reached the normal minimum,15 (68％) individuals' testicular volume were equal or more than 4 ml,16 (73％) individuals' sex hormones entered puberty levels,12 (55％) individuals had been spermatorrhea,the age of first spermatorrhea was (13.3±2.4) years.They were satisfied and adaptable after surgery.There was no significant difference in the above indicators among the groups (x2 =2.999,P=0.694;x2 =7.278,P=0.086;x2 =5.597,P=0.358;x2 =6.904,P=0.127).Conclusions The appropriate gender of 46,XY DSD patients was selected according to gonadal status after diagnosis.Regardless the diagnosis,the age of operation and the length of the penis at the first diagnosis,male patients were satisfied with the gender after the operation.A few of patients were inconsistent with the results of gender tendency scale test who were raised as girls or facultative children after birth,and they required sustained special attention.Some of the children showed natural adolescent development in males,and the prognosis may be ideal.

Background and objective OLC1 (overexpressed in lung cancer 1), screened out and cloned in our previous research, is a new gene associated with lung cancer. It is highly expressed in lung cancer and many other malignant tu-mors, and is associated with poor prognosis of esophageal squamous cell carcinoma, ovarian cancer, breast cancer and colorec-tal cancer. The aim of this research was to detect the expression level of OLC1 in the tumor tissues of lung adenocarcinoma (ADC) and squamous cell carcinoma (SCC) and explore its relationship with the prognosis of lung cancer patients. Methods Lung cancer tissues of 108 SCC and 90 ADC was dealed with immunohistochemical staining to detect the expression level of OLC1. The relationship between the expression level of OLC1 and clinical parameters and prognosis was analyzed. Results The rate of high expression of OLC1 staining in ADC was significantly higher than that in SCC (87.5% vs 55.3%, P<0.001). The overexpression of OLC1 in tumor tissues did not have a significant relationship with the prognosis of patients with ADC, but it was related with a poor prognosis of SCC patients as the univariate analysis showed. However the multivariate regression analysis showed that correlation between the overexpression of OLC1 and poor prognosis of SCC patients did not have a statis-tical significance (P=0.05). Conclusion The expression of OLC1 in ADC might be higher than that in SCC. A higher score of OLC1 staining in tumor tissue was associated with a poorer prognosis of patients with SCC, but could not be an independent predictor for a shorter overall survival in patients with SCC.

Objective To improve the understanding of cutaneous intravascular natural killer/T-cell lymphoma (CIVNKTC). Methods Clinical data on five cases of CIVNKTC were collected. The histopathological feature, treatment and prognosis of CIVNKTC were retrospectively analyzed and discussed. Results Of the 5 patients, 1 was male and 4 were female. The age of onset ranged from 38 to 83 years (average, 56.2 years). All the patients presented with multiple plaques and nodules as the primary symptoms. Histopathological examination revealed vasodilatation in the dermis and subcutaneous tissue, as well as atypical lymphoid cells with large hyperchromatic nuclei containing 1-2 small nucleoli in dilated veins. Immunohistochemical studies of tumor cells showed positive staining for CD3ε, cytotoxic proteins (including T cell-restricted intracellular antigen-1, granzyme B and perforin)and Epstein-Barr virus(EBV)-encoded microRNA, but negative staining for cytokeratin, CD20, CD79a, CD4 and CD8. Furthermore, the tumor cells stained positive for CD56 in two patients. Among the 5 patients, only 2 received chemotherapy and the remaining received no treatment. During a 24-month follow-up, 4 patients died, and only 1 survived with the tumor. Conclusion CIVNKTC is a rare extranodal Hodgkin′s lymphoma with distinct histologic manifestations and immunophenotypes, rapid and aggressive clinical course, and poor prognosis.

Objective To study the effects of ankle-foot retractor on ankle joint motion and equilibrium function of stroke hemiplegic patients.Methods 74 patients were divided into two groups: observation group (n=36) and control group (n=38). The control group was trainedby routine rehabilitation training program and electro-uprise bed, the observation group was trained by ankle-foot retractor based on routinerehabilitation training program. The effect was evaluated after 8 weeks. Results After training, either the observation group or the controlgroup showed significant improvement at motion of ankle joint, activity of daily living (ADL), and equilibrium function, but the observationgroup was better than the control group (P<0.001). Conclusion Ankle-foot retractor plays a positive role on motion of ankle joint, ADL andequilibrium function in stroke patients.

Objective To study the effects of 5-aza-dc on the expression of IGFBP7 in and proliferation of melanoma cell lines A375 and M14.Methods Reverse transcription-PCR and immunocytochemistry were performed to detect the mRNA and protein expression of IGFBP7 in A375 cells and M14 cells after treatment with 5-aza-dc of 10μmol/L for 48 hours,and MTT assay to measure the proliferation of both cell lines treated with 4 different concentrations (2.5,5,10,20μmol/L) of 5-aza-dc for various durations.Results The treatment with 5-aza-dc restored IGFBP7 expression at both mRNA and protein levels.The four concentrations of 5-aza-dc inhibited the proliferation of A375 and M14 cells in a dose-dependent (F=561.12,271.43,respectively,both P<0.01) and time-dependent (F=141.35,549.33,respectively,both P<0.01) manner.Conclusions DNA methylation may be involved in the modulation of aberrant IGFBP7 gene expression in melanoma,and 5-aza-dc could inhibit the proliferation of A375 and M14 cells.

BACKGROUND: Lung transplantation can improve quality of life of patients who get terminal pulmonary disease and also it can help to get better survival.Now it has become one of the best therapeutic methods for terminal pulmonary disease.However,limited donors leave the development of lung transplantation in dilemma.The emergence of living lobar transplantation and cadeveric lobar transplantation let this procedure much easier.OBJECTIVE: To evaluate the clinical probability of bilateral lobar transplantation.METHODS: Sequential bilateral lobar transplantation was performed for one 26 years old cystic fibrosis female.Cardiac pulmonary bypass was used during operation.Anti-rejection(Tacrolimus,mycophenolate,etc)and anti-infection was used postoperatively.RESULTS AND CONCLUSION: The recovery course postoperatively was smooth,and the recipient got out of hospital 7weeks later.Bilateral lobar transplantation could offer satisfied short-term pulmonary function.The long term results should be further evaluated.