Objective:To analyze clinical characteristics of 17α-hydroxylase deficiency, and to facilitate the understanding and management of the disease.Methods:A retrospective analysis of the clinical characteristics and biochemical results of 5 cases with 17α-hydroxylase deficiency diagnosed and treated from 2018 to 2020.Results:All 5 patients were female as social gender, and reached adulthood upon first clinic visit to our department and got diagnosed. All 5 cases had hypertension, hypokalemia, bilateral adrenal hyperplasia or adenoma, osteoporosis, and typical hormone changes related to steroid synthesis.Conclusion:Steroid hormone tests with liquid chromatography tandem mass spectrometry(LC-MS/MS) enable early diagnosis of 17α-hydroxylase deficiency, assessment of the type and degree of enzyme deficiency, and choice of treatment. For such patients, it is necessary to give appropriate anti-osteoporosis therapy.

Objective:To explore the feasibility of wait and watch treatment for patients with high-risk pathology factors after endoscopic submucosal dissection (ESD) for early colorectal cancer.Methods:From December 2012 to June 2020, 104 patients, including 62 males and 42 females, aged from 31 to 89 years old, with the average of (59.5±10.8) years with early colorectal cancer after ESD operation were selected from the Department of General Surgery, Beijing Friendship Hospital, Capital Medical University. According to the follow-up treatment, the patients were divided into two groups: the additional surgical resection group and the wait and watch group. The measurement data of normal distribution were shown by mean standard deviation, the comparison between groups adopted t test, and the comparison of counting data between groups adopted χ2 test. The types of pathological high-risk factors after ESD were compared between the two groups, and the overall survival (OS) and progression free survival (PFS) of the two groups were compared by Log-Rank test. Results:The median follow-up time was(40.6±15.3) months. The OS and PFS of the additional surgical resection group and the wait and watch group were 100.0% vs 98.4% and 90.7% vs 90.2%, respectively, and there was no statistically significant difference between the two groups (OS: χ2=0.875, P=0.35; PFS: χ2=0.017, P=0.80). Conclusion:The wait and watch strategy is expected to be one of the follow-up choices for some patients with high risk factors after ESD operation for early colorectal cancer.

Objective:To investigate the relationship between the E2 and E4 alleles of apolipoprotein E (apoE) gene and myocardial infarction (MI) in type 2 diabetes Mellitus (T2DM) patients, and to explore the relationship between apoE polymorphism and blood lipid metabolism.Methods:This case control study was conducted from August 2016 to March 2020 in China-Japan Friendship Hospital, 3 459 inpatients with T2DM were included including 3 044 patients without MI (T2DM group) and 415 patients with MI (T2DM+MI group). Real time fluorescent quantitative PCR was used to detect apoE polymorphism. Automatic biochemical analyzer was used to detect lipid levels. Logistic regression analyses were performed to determine the association of apoE with risk of MI in patients with T2DM.Results:(1) The frequency of E4 allele in T2DM+MI group (12.29%, 102/830) was significantly higher than in T2DM group (9.13%,556/6 088), while the frequency of E2 allele in T2DM+MI group (7.35%,61/830) was significantly lower than that in T2DM group (8.21%,500/6 088), P=0.012. Logistic regression analyses showed that E4 allele carrier (E3/E4+E4/E4) faced a higher risk for MI in T2DM patients ( OR=1.48, 95% CI 1.14-1.92, P=0.003), while E2 allele carrier(E2/E3+E2/E2)did not face a higher risk of MI in T2DM patients ( OR=0.88, P=0.642). (2) The levels of apoE polymorphism and blood lipid: The levels of TC, LDL-C and apoB increased in the order of E4 allele, wild type and E2 allele ( P<0.05). The levels of HDL-C, apoA1 and apoE decreased in the order of E4 allele, Wild type and E2 allele ( P<0.05). Conclusion:The E4 allele is a risk factor for MI in T2DM patients, and apoE polymorphism can affect blood lipid level in this patent cohort.

The clinical application of immune checkpoint inhibitors (ICIs) has significantly improved the prognosis of hepatocellular carcinoma (HCC) patients. With the widespread applica-tion of ICIs in HCC, the management of immune-related adverse events (irAE) gained more and more attention. However, the complicated disease characteristics and various combination therapies in HCC throw out challenges to irAE management. Therefore, the editorial board of the 'Chinese expert consensus on the management of immune-related adverse events of hepatocellular carcinoma treated with immune checkpoint inhibitors (2021 edition)' organizes multidisciplinary experts to discuss and formulate this consensus. The consensus focuses on issues related to HCC irAE manage-ment, and puts forward suggestions, in order to improve standardized and safety clinical medication, so as to maximize the benefits of immunotherapy for patients.

Objective:To explore whether the protective ileostomy can reduce the incidence of anastomotic leakage after neoadjuvant treatment of rectal cancer and the relationship between protective ileostomy and anastomotic leakage.Methods:From May 2011 to August 2020, a total of 108 patients who underwent rectal cancer neoadjuvant radiotherapy and chemotherapy and then received anterior resection in Beijing Friendship Hospital, Capital Medical University were selected. Sixty-three cases were treated with protective ileostomy (Treatment group), while 45 cases were not (Control group). The chi-square test was used to compare the incidence of anastomotic leakage between the two groups. At the same time, Logistic regression was used to analyze the related factors of anastomotic leakage, and the rate of permanent stoma was calculated. SPSS19.0 software was used for statistical analysis.Results:The total incidence of postoperative anastomotic leakage in the Treatment group and Control group was 9.52% (6/63) and 6.66% (3/45) ( P=0.59). Among them, 2 cases of anastomotic leakage occurred in the Treatmentgroup, no A-grade anastomotic leakage occurred in the Control group, and there was no significant difference between the two groups (33.33% vs. 0, P=0.77). There were 4 cases of grade B anastomotic leakage occurred in the Treatment group, 2 cases in the Control group, there was no significant difference between the two groups (66.67% vs. 66.67%, P=0.45). There was no grade C anastomotic leakage in the Treatment group, and one case of grade C anastomotic leakage occurred in the Control group, there was no significant difference between the two groups (0 to 33.33%, P=0.70). Logistic regression analysis showed that whether protective stoma was implemented or not was not statistically related to the occurrence of anastomotic leakage ( P=0.26). The distance between the tumor and the anal margin ( P=0.01) affected the occurrence of anastomotic leakage. The permanent stoma rate in the Treatment group was 9/63 (16.67%). Conclusion:Protective ileostomy has no significant advantage in reducing the incidence of anastomotic leakage in patients with rectal cancer neoadjuvant radiotherapy and chemotherapy, and may lead to permanent stoma.

Neoadjuvant chemoradiotherapy (nCRT)+ total mesorectal excision (TME) has become the standard mode of treatment for locally advanced rectal cancer(LARC). However, the sensitivity of different patients to nCRT varies greatly, some patients can get pathological complete response (pCR), and their long-term survival is significantly improved, Some patients'tumors continue to progress, therefore, accurate prediction of whether pCR can be achieved after nCRT is very important for guiding individualized treatment of patients. Current studies have shown that some accessible clinical factors, such as age, pathological types of tumors, TNM staging, circumferential extent of tumor, distance to the anal verge, CEA level, neutrophil lymphocyte ratio, can be used to predict whether pCR can be achieved.This article reviews the progress of clinical predictors of pCR in LARC after nCRT.

Objective:To identify the association of sex hormone and sex hormone-binding globulin (SHBG) levels in patients with Graves′ disease.Methods:Between December 2017 and July 2019, 152 patients with Graves′ disease were enrolled in the Department of Endocrinology and Metabolism of Zhongshan Hospital, Fudan University. Parameters such as height, weight, thyroid function, sex hormone, fasting blood glucose, insulin, C-peptide, glycosylated albumin, HbA 1C, and liver function were collected. The associations between SHBG and bioclinical characteristics were analyzed. Results:The glycosylated albumin level was negatively associated with SHBG in all subjects ( β=-0.308, P<0.01), while this association was not significant after the adjustment for thyroid hormones. Male patients had significantly lower SHBG level than female patients ( P<0.01). In male patients, SHBG was associated with luteinizing hormone ( r=0.465, P<0.01), estradiol ( r=0.629, P<0.01), testosterone ( r=0.786, P<0.01). While in female patients, SHBG was also associated with testosterone ( r=0.191, P<0.05). In multivariate linear regression analysis, estradiol was independently associated with SHBG ( β=0.329, P<0.01) in male subjects. Conclusion:The hypogonadism and infertility in Graves′ disease patients could partially be attributed to the association between SHBG and Graves′ disease.

Objective: Retrospective analysis of clinical data of patients with primary aldosteronism in the past 2 years, to assess the value of liquid chromatography-mass spectrometric method (LC-MS/MS) aldosterone to renin ratio(ARR) and saline infusion test and its optimal cutoff in the diagnosis of primary aldosteronism(PA). Methods: A total of 124 healthy volunteers were recruited to determine the normal reference range for LC-MS/MS aldosterone. 375 patients with high risk of primary aldosteronism were enrolled during March 2016 to November 2017. Among them, 241 patients underwent the saline infusion test. Receiver operating characteristic (ROC) analysis was performed to compare the diagnostic accuracie and the cutoff value of random ARR and post saline infusion test. Results: The average level of LC-MS/MS aldosterone in healthy volunteers was(9.16±6.73)ng/dl (95% CI 2.34-22.18 ng/dl). Among 375 patients with high risk of PA, 143 patients with PA and 232 patients with essential hypertension (EH) were diagnosed. The area under the ROC curve(AUC ROC) of random ARR was 0.837(0.787-0.886), the cutoff point was 13.84 (ng/dl)/(ng/ml·h), with a sensitivity of 78.3% and a specificity of 79%. Using post-test plasma aldosterone concentration (PAC) for diagnosis, AUC ROC of the saline infusion test was 0.807(0.747-0.867), the cutoff point was 4.29 ng/dl, with a sensitivity of 90.6% and a specificity of 69.6%. Conclusion The normal range of LC-MS/MS aldosterone is 2.34-22.18 ng/dl. In our research, random ARR value above 13.84(ng/dl)/(ng/ml·h) can be the cutoff point in screening the suspected PA patients.PAC post- saline infusion test more than 4.29 ng/dl is recommended to confirm PA.

Objective: To assess the incidence and independent risk factors for clinical anastomotic leakage (AL) in patients undergoing anterior resection (AR) or low anterior resection, (LAR) for rectal cancer. Methods: This was a retrospective case-control study of 550 patients with rectal cancer who underwent AR or LAR from April 2007 to March 2017 in Beijing Friendship Hospital, Capital Medical University. The relationship between the incidence of AL and clinicopathological manifestations was analyzed by Chi-squared test and Fisher exact test, and the independent risk factors of AL were analyzed using logistic regression analysis. AL is defined as a defect (including necrosis or abscess formation) of the intestinal wall at the anastomotic site, leading to a communication between the intra- and extra-luminal compartments. AL can be divided into three grades. Grade A anastomotic leakage results in no change in the management of patients, whereas grade B leakage requires active therapeutic intervention but is manageable without re-laparotomy. Grade C anastomotic leakage requires re-laparotomy. Results: AL was noted in 32 (5.8%) of 550 patients with rectal cancer who underwent AR or LAR, including 15 (46.9%) , 4 (12.5%) , and 13 patients (40.6%) with Grades A, B, and C, respectively. Five patients (0.9%, 5/550) died peri-operatively. AL- and non-AL-related deaths occurred in 3 (9.4%, 3/32, all cases were Grade C) and 2 patients (0.4%, 2/518) , respectively, with the two mortality rates being significant difference (P = 0.002) . Chi-squared test or Fisher exact test showed that the incidence of AL was associated with neoadjuvant chemoradiotherapy (P = 0.011) , intraoperative bleeding (≥100 ml) (χ² = 11.980, P = 0.001) , and tension-reducing suture of anastomosis (P = 0.015) . The results of logistic regression analysis showed that the independent risk factors of AL were neoadjuvant chemoradiotherapy (OR = 2.402, 95%CI: 1.004 - 5.749, P = 0.049) , intraoperative bleeding (≥100 ml) (OR = 2.971, 95%CI: 1.269 - 6.957, P = 0.012) and tension-reducing suture of anastomosis (OR = 2.304, 95%CI: 1.008 - 5.263, P = 0.048) . Conclusion The incidence of AL in patients undergoing AR for rectal cancer is 5.8%. The high-risk factors for AL are neoadjuvant chemoradiotherapy, intraoperative bleeding (≥100 ml) , and tension-reducing suture of anastomosis. Patients with these three risk factors have a high risk of AL rate, and a defunctioning stoma should be performed.

Objective To evaluate the curative effect of trans-anal surgery vs.conventional laparoscopic surgery in treating sigmoid and high-rectum tumor.Methods From Jan 2014 to Mar 2017,100 patients in Beijing Friendship Hospital participated in this clinical study.45 patients underwent transanal surgery and 55 patients underwent conventional laparoscopic surgery.Results No significant difference was found between trans-anal surgery group and the traditional laparoscopic group in terms of operation time,blood loss,the use of analgesic drugs and the radical evaluation of tumor.While the postoperative pain scores in trans-anal surgery group (2.0 ± 1.0 vs.2.6 ± 1.0,t =2.9,P =0.005) were lower than those in the conventional group.The follow-up data showed one case of local tumor recurrence and one case of multiple peritoneal metastasis in the trans-anal surgery group,compared to two cases of liver metastasis and one case dying of pneumonia in the conventional laparoscopic group.The remaining cases were of no local recurrence,nor distant metastases or any critical complications.Conclusions Trans-anal surgery in the treatment of sigmoid and high-rectum tumor is safe,reliable and having the same clinical efficacy with conventional laparoscopic surgery.