[3D-printed vertebral body in anterior spinal reconstruction after total spondylectomy for patients with cervical chordoma].

OBJECTIVE: To investigate whether 3D-printed artificial vertebral body can reduce prosthesis subsidence rate for patients with cervical chordomas, through comparing the rates of prosthesis subsidence between 3D printing artificial vertebral body and titanium mesh for anterior spinal reconstruction after total spondylectomy. METHODS: This was a retrospective analysis of patients who underwent surgical treatment for cervical chordoma at our hospital from March 2005 to September 2019. There were nine patients in the group of 3D artificial vertebral body (3D group), and 15 patients in the group of titanium mesh cage (Mesh group). The patients' characteristics and treatment data were extracted from the medical records, including age, gender, CT hounsfield unit of cervical vertebra and surgical information, such as the surgical segments, time and blood loss of surgery, frequency and degree of prosthesis subsidence after surgery. Radiographic observations of prosthesis subsidence during the follow-up, including X-rays, CT, and magnetic resonance imaging were also collected. SPSS 22.0 was used to analysis the data. RESULTS: There was no significant difference between the two groups in gender, age, CT hounsfield unit, surgical segments, time of surgery, blood loss of posterior surgery and total blood loss. Blood loss of anterior surgery was 700 (300, 825) mL in 3D group and 1 500 (750, 2 800) mL in Mesh group (P < 0.05). The prosthesis subsidence during the follow-up, 3 months after surgery, there was significant difference between the two groups in mild prosthesis subsidence (P < 0.05). The vertebral height of the 3D group decreased less than 1 mm in eight cases (no prosthesis subsidence) and more than 1 mm in one case (mild prosthesis subsidence). The vertebral height of the Mesh group decreased less than 1 mm in five cases (no prosthesis subsidence), and more than 1 mm in eight cases (mild prosthesis subsidence). Two patients did not have X-rays in 3 months after surgery. There was a statistically significant difference between the two groups in the prosthesis subsidence rate at the end of 12 months (P < 0.01). The vertebral height of eight cases in the 3D group decreased less than 1 mm (no prosthesis subsidence) and one case more than 3 mm (severe prosthesis subsidence). Four of the 15 cases in the Mesh group decreased less than 1 mm (no prosthesis subsidence), two cases more than 1 mm (mild prosthesis subsidence), and nine cases more than 3 mm (severe prosthesis subsidence). There was a statistically significant difference between the two groups in the prosthesis subsidence rate at the end of 24 months (P < 0.01). The vertebral height of seven cases in the 3D group decreased less than 1 mm (no prosthesis subsidence), one case more than 3 mm (severe prosthesis subsidence), and one case died with tumor. One case in the Mesh group decreased less than 1 mm (no prosthesis subsidence), one case more than 1 mm (mild prosthesis subsidence), 11 case more than 3 mm (severe prosthesis subsidence), one case died with tumor and one lost the follow-up. Moreover, at the end of 12 months and 24 months, there was significant difference between the two groups in severe prosthesis subsidence rate (P < 0.01). CONCLUSION: 3D-printed artificial vertebral body for anterior spinal reconstruction after total spondylectomy for patients with cervical chordoma can provide reliable spinal stability, and reduce the incidence of prosthesis subsidence after 2-year follow-up.

[Investigate of the etiology and prevention status of liver cirrhosis].

Objective: To investigate the etiology, prevention and treatment status, and their corresponding regional differences of the patients with liver cirrhosis in China, in order to provide scientific basis for the development of diagnosis and control strategies in China. Methods: Clinical data of patients diagnosed with liver cirrhosis for the first time through January 1, 2018 to December 31, 2020 from 50 hospitals in seven different regions of China were collected and analyzed retrospectively, and the difference of etiology, treatment, and their differences in various regions were analyzed. Results: A total of 11 861 cases with liver cirrhosis were included in the study. Thereinto, 5 093 cases (42.94%) were diagnosed as compensated cirrhosis, and 6 768 cases (57.06%) had decompensated cirrhosis. Notably, 8 439 cases (71.15%) were determined as chronic hepatitis B-caused cirrhosis, 1 337 cases (11.27%) were alcoholic liver disease, 963 cases (8.12%) were chronic hepatitis C, 698 cases (5.88%) were autoimmune liver disease, 367 cases (3.09%) were schistosomiasis, 177 cases (1.49%) were nonalcoholic fatty liver, and 743 cases (6.26%) of other types of liver disease. There were significant differences in the incidence of chronic hepatitis B, chronic hepatitis C, alcoholic liver disease, fatty liver, schistosomiasis liver disease, and autoimmune liver disease among the seven regions (P<0.001). Only 1 139 cases (9.60%) underwent endoscopic therapy, thereinto, 718 cases (6.05%) underwent surgical therapy, and 456 cases (3.84%) underwent interventional therapy treatment. In patients with compensated liver cirrhosis, 60 cases (0.51%) underwent non-selective ß receptor blockers(NSBB), including 59 cases (0.50%) underwent propranolol and 1 case (0.01%) underwent carvedilol treatment. In patients with decompensated liver cirrhosis, 310 cases (2.61%) underwent NSBB treatment, including 303 cases (2.55%) underwent propranolol treatment and 7 cases (0.06%) underwent carvedilol treatment. Interestingly, there were significant differences in receiving endoscopic therapy, interventional therapy, NSBB therapy, splenectomy and other surgical treatments among the seven regions (P<0.001). Conclusion: Currently, chronic hepatitis B is the main cause (71.15%) of liver cirrhosis in several regions of China, and alcoholic liver disease has become the second cause (11.27%) of liver cirrhosis in China. The three-level prevention and control of cirrhosis in China should be further strengthened.

[Exploration of cystathionine ß-synthase and cystathionine γ-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer].

Objective: To study the relationship between cystathionine ß-synthase (CBS) and cystathionine γ-lyase (CTH) genes-related signaling pathways in liver cancer cells. Methods: We conducted a correlation analysis between the clinical features of CBS and CTH gene expression by mining the GEO (Gene Expression Omnibus) and TCGA (The Cancer Genome Atlas) databases of liver cancer. Additionally, liver cancer cell lines were verified by immunoblotting. Results: CBS and CTH expressions were significantly lower in tumors than in non-tumors (P < 0.05). COX regression result showed that CBS was an independent risk factor for the poor prognosis of liver cancer cells (HR=0.65, P = 0.02). A univariate logistic regression analysis was performed on the different tumor stages focusing on the CBS gene, which showed that TNM stage II verses I (P = 0.01, OR=0.50), stage III verses I (P = 0.03, OR=0.56), T stage T2 verses T1 (P < 0.01, OR=0.43), and T3 stage verses T1 (P = 0.02, OR=0.54) were significantly lower in liver cancer. TNM stage III verses I (P = 0.01, OR=0.50), Edmondson stage II verses I (P = 0.03, OR=0.48), stage III verses stage I (P < 0.01, OR=0.30), stage IV verses I (P = 0.03, OR=0.22), and T stage T3 verses T1(P = 0.03, OR=0.22) of the CTH gene expressions were significantly lower in liver cancer. GSEA enrichment analysis result revealed that the signaling pathway most correlated with the expression of CTH and CBS genes in liver cancer cells was cytochrome P450 (CYP450) (FDR Q < 0.01, FWER P < 0.01). Western blot results showed that the expression of the CTH downstream protein CSE was reduced in HCC cell lines such as HLE and Hep3B cells compared with the human immortalized liver cell line HL-7702. Conclusion: CBS and CTH gene expressions are lower in tumor tissue than in normal tissue groups. The CBS gene is an independent risk factor for poor prognosis in stem cell carcinoma. The cytochrome P450 is the signaling pathway most closely related to the CBS and CTH genes.

[Research progress on distribution characteristics and health risk assessment of bioaerosols in medical institutions].

Bioaerosols in healthcare facilities are closely related to the health of medical staff and patients. Inhalation of microbial aerosol particles can lead to both infectious and non-infectious diseases. However, a systematic summary of bioaerosol types, sources, impact factors and health risk analysis is lacking.This article condutcted a literature review to understand the distribution characteristics, sources, influencing factors and health risks of bioaerosols in healthcare facilities, both domestically and internationally. The goal is to increase awareness of the distribution characteristics of bioaerosols in healthcare facilities and health risk of bioaerosols in medical institutions. This article also provides a reference for prevention and control of bioaerosols.

[Value of dual-layer spectral detector CT in preoperative prediction of lymph node metastasis of gastric cancer].

Objective: To investigate the value of dual-layer spectral detector CT(SDCT) in preoperative prediction of lymph node (LN) metastasis of gastric cancer. Methods: From January 2019 to January 2021, the clinical and imaging data of 130 gastric cancer patients(93 males and 37 females, aged from 37 to 84 years)confirmed by pathology in the Zhongshan hospital of Xiamen University were retrospectively collected. According to the status of lymph node metastasis, those patients were divided into metastatic LNs group (n=104) and nonmetastatic LNs group (n=26). The maximum diameter of gastric cancer on spectral CT images, CT Values of lesions in 40, 50, 60, 70. KeV monoenergetic image of arterial and Venous phase (CT40 keV, CT50 keV, CT60 keV, CT70 keV), iodine concentration (IC) and effective atomic number (Zeff) were measured, then the normalized IC(NIC) and spectral curve(K(40-70)) value were calculated. The differences of each parameter derived from spectral CT between the two groups were compared, and a logistic regression model was constructed. The ROC curves and area under the curve (AUC) were conducted to evaluate the diagnostic performance of each parameter and Delong test was used to compare the difference of each AUC. Results: Compared to nonmetastatic LNs group, metastatic LNs group had higher maximum diameter of tumor, CT40 keV, CT50 keV, CT60 keV, CT70 keV, IC, NIC, Zeff, and K(40-70) values on venous phase (the representative parameter is Zeff: 8.4 (8.2, 8.5) vs 8.2 (8.1, 8.3)) (all P<0.05). The proportion of patients with lower histology differentiated degree, higher T grade and positive carcino embryonic antigen (CEA)were higher than that in nonmetastatic LNs (the representative parameter was CEA: 34.6%(36/104) vs 7.7%(2/26) (all P<0.05). The regression model constructed by CEA and Zeff had the highest predictive value in predicting metastatic LNs, with an AUC of 0.835(0.759-0.894), sensitivity and specificity of 83.65% and 73.08%, respectively. Conclusion: SDCT quantitative parameters on venous phase and CEA facilitate the accurate prediction of metastatic LNs in patients with gastric cancer, and the multi-parameter regression model has the highest diagnostic performance.

[Association study between the KCNE family gene polymorphisms of potassium channel gene and the susceptibility of atrial fibrillation].

Objective: To investigate the relationship between KCNE family gene polymorphisms of potassium channel gene and the susceptibility of atrial fibrillation (AF). Methods: In the case-control study, a total of 648 subjects were studied, of which 338 patients with atrial fibrillation were selected from the Department of Cardiovascular Medicine, Putuo Hospital Affiliated to Shanghai University of Traditional Chinese Medicine from January 2019 to December 2019, and 310 healthy people were selected from the physical examination population during the same period. DNA sequencing technology and polymerase chain reaction (PCR) were used to detect the genotype and allele frequency of rs1805127 of KCNE1, rs9984281 of KCNE2, rs9516, rs626930 of KCNE3 and rs12621643 of KCNE4. Results: The ages of subjects in atrial fibrillation group and control group were (69±13) and (73±8) years, respectively (P=0.077). Men subjects accounted for 57.70% (195 men) and 40.00% (124 men) in the two groups, respectively (P=0.092). The distribution frequencies of the allele C at rs1805127 of gene KCNE1, the allele A at rs9984281 of gene KCNE2 and the allele G at rs12621643 of gene KCNE4 were significantly different between groups (P<0.05). After adjustment for sex, smoking, hypertension, cardiac insufficiency and other factors, it was found that the increase in the frequency of the above three loci would increase the risk of atrial fibrillation (rs1805127 OR=7.064, 95%CI:1.559-31.997; rs9984281 OR=4.210, 95%CI:1.118-15.850; rs12621643 OR=2.679, 95%CI:1.025-6.998). Conclusion: The rs1805127 of KCNE1, the rs9984281 of KCNE2,the rs12621643 of KCNE4 were significantly associated with the susceptibility to atrial fibrillation.

[Predictive value of impedance of leadless pacemaker during implantation on trend changes of pacing threshold].

Objective: To explore the predictive value of the impedance measured during leadless pacemaker Micra implantation on the trend of changes of pacing threshold post implantation. Methods: This is a retrospective cross-sectional study. Patients who received implantation of leadless pacemaker Micra at the Second Xiangya Hospital of Central South University from December 2019 to August 2020 were enrolled. The clinical data and the intraoperative electrical parameters during leadless pacemaker implantation were collected. The impedance and pacing threshold data were analyzed at three time points: immediate release, 5-10 min after release, and after traction test. Receiver operating characteristic (ROC) curves and the area under the curve (AUC) were used to analyze the value of the impedance at immediate release on predicting the trend of changes of pacing threshold post implantation. Results: A total of 21 patients (mean age: (72.2±12.5) years, 12 males) were included. The impedance of 21 patients was (798.1±35.3) Ω immediately after implantation, (800.9±35.6) Ω after 5-10 minutes of release, and (883.6±31.7) Ω after traction test. Impedance was similar between the three time points (P>0.05). The threshold was (0.97±0.11) V/0.24 ms immediately after implantation, (0.95±0.12) V/0.24 ms at 5-10 min after the release, and (0.59±0.06) V/0.24 ms after the traction test. The threshold was significantly lower after the traction test than that immediately after release (P=0.003) and than that at 5-10 minutes after release (P=0.008), suggesting a decreased tendency of the threshold over time. According to the analysis of the ROC curve, the immediate impedance after the release ≥680 Ω could predict the ideal pacing threshold after the traction test (AUC=0.989, 95%CI 0.702-0.964, P<0.001), the prediction sensitivity was 87%, and the specificity was 100%. The pacing threshold would be not ideal with the immediate impedance ≤ 520 Ω (95%CI 0.893-1.000, P<0.001), the sensitivity was 100%, and the specificity was 80%. Conclusions: The impedance immediately after the release has predictive value for the changing trend of threshold post leadless pacemaker Micra implantation. Impedance ≥680 Ω immediately after release is often related with ideal pacing threshold after the traction test. In contrast, the impedance ≤ 520 Ω pacing is often related with unsatisfactory threshold after the traction test, therefore, it is recommended to find a new pacing site to achieve the impedance ≥680 Ω immediately after release during leadless pacemaker Micra implantation.

[Safety and feasibility of stereotactic radiation therapy on porcine ventricular septum: a preliminary study].

Objective: To explore the safety and feasibility of stereotactic radiation therapy (SBRT) strategy for irradiating porcine ventricular septum, see if can provide a preliminary experimental evidence for clinical SBRT in patients with hypertrophic obstructive cardiomyopathy (HOCM). Methods: Five male pigs (39-49 kg, 6 months old) were used in this study. Pigs were irradiated at doses of 25 Gy (n=2) or 40 Gy (n=3). Delineation of the target volume was achieved under the guidance of 3-dimensional CT image reconstruction, and SBRT was then performed on defined target volume of porcine ventricular septum. Blood biomarkers, electrocardiogram and echocardiography parameters were monitored before and after SBRT. Pathological examination (HE staining, Masson staining) was performed on the target and non-target myocardium at 6 months post SBRT. Results: SBRT was successful and all animals survived to the designed study endpoint (6 months) after SBRT. Serum cardiac troponin T (cTnT) level was significantly higher than the baseline level at 1 day post SBRT, and reduced at 1 week after SBRT, but was still higher than the baseline level(P<0.05). Serum N-terminal pro-B type natriuretic peptide (NT-proBNP) was also significantly increased at 1 day post SBRT (P<0.05) and returned to baseline level at 1 week post SBRT. The serum NT-proBNP level was (249±78), (594±37) and (234±46) pg/ml, respectively, and the cTnT was (14±7), (240±40) and (46±34) pg/ml, respectively at baseline, 1 day and 1 week after SBRT in the 40 Gy dose group. The serum NT-proBNP level was (184±20), (451±49) and (209±36) pg/ml, respectively, the cTnT values ​​were (9±1), (176±29) and (89±27) pg/ml, respectively at baseline, 1 day and 1 week after SBRT in the 25 Gy dose group. Both NT-proBNP and cTnT values tended to be higher post SBRT in the 40 Gy dose group as compared with the 25 Gy dose group, but the difference was not statistically significant (P>0.05). The left ventricular ejection fraction and the left ventricular end-diastolic diameter remained unchanged before and after SBRT (P>0.05). The interventricular septum thickness showed a decreasing trend at 6 months after SBRT, but the difference was not statistically significant ((9.54±0.24) mm vs. (9.82±8.00) mm, P>0.05). The flow velocity of the left ventricular outflow tract, and the valve function and morphology were not affected by SBRT. At 6 months after SBRT, HE staining revealed necrosis in the irradiated target area of ​​the myocardium in the 40 Gy dose group and the 25 Gy dose group, and the degree of necrosis in the irradiated interventricular septum was more obvious in the 40 Gy dose group as compared with the 25 Gy group. The combined histological analysis of the two groups showed that the necrotic area of ​​the irradiated target area accounted for (26±9)% of the entire interventricular septum area, which was higher than that of the non-irradiated area (0) (P<0.05). There was no damage or necrosis of myocardial tissue outside the target irradiation area in both groups. The results of Masson staining showed that the percentage area of myocardial fibrosis was significantly higher in the irradiated target area than non-irradiated area ((12.6±5.3)% vs. (2.5±0.8)%, P<0.05). Conclusion: SBRT is safe and feasible for irradiating porcine ventricular septum.

[The diagnostic value of hydrogen sulfide breath test for small intestinal bacterial overgrowth].

Objective: To evaluate the diagnostic value of hydrogen sulfide breath test(SBT) for small intestinal bacterial overgrowth (SIBO). Methods: College students were enrolled to complete gastrointestinal symptom scale, food frequency questionnaire, lactulose hydrogen- methane breath test (LHMBT) and SBT. Based on the correlation between hydrogen sulfide(H2S) and hydrogen or methane gas,the receiver operating characteristic (ROC) curve of H2S was drawn and diagnostic criteria of SBT was defined. Results: A total of 300 subjects including 84 males and 216 females with age 17-32 (21.6±2.4) years were enrolled from April 2019 to December 2019 and divided into two groups.Two hundred and three patients reported SIBO discomforts with 99 (48.8%) LHMBT positive, while 38 (39.2%) were LHMBT positive in 97 health controls. Rise of H2S at 90 min was positively related with that of hydrogen (r=0.516, P<0.01), and H2S levels at 90 min were positively correlated with methane (r=0.632, P<0.01). A rise in H2S of ≥25.0 ppb or H2S levels ≥62.5 ppb at 90 min during lactulose breath test was considered positive for SIBO, that sensitivity, specificity and accuracy were 66.4%,79.1% and 73.3% respectively. H2S levels were significantly related to the amount of Vitamin B12 intake (P=0.011). H2S-positive subjects exhibited a constipation-predominant pattern. Conclusion: SBT is consistent with LHMBT, especially in constipation-predominant patients, which may provide a reference to the diagnosis of SIBO.

[Changes of coagulation factor activity and its clinical significance in tumor patients with abnormal coagulation function].

Objective: To investigate the changes and clinical significance of coagulation factor activity in tumor patients with abnormal coagulation function. Methods: The clinical data of cancer patients who were hospitalized in Henan Cancer Hospital from January 2020 to June 2021 was collected. Thromboelastography (TEG) was used to monitor the coagulation function of tumor patients. Accordingly, 196 tumor patients with abnormal coagulation function were in the test group, and 36 tumor patients with normal status were in the control group. According to the coagulation index (CI) value of the TEG test results, the test group was divided into two groups: hypercoagulability test group (n=104): CI value>3; hypocoagulation test group (n=92): CI value<-3. Meanwhile, each test group was divided into 3 subgroups according to the R value, K value, α angle and MA value of the TEG results, namely hypercoagulable group one (n=37), hypercoagulable group two (n=34), and hypercoagulable group three (n=33); hypocoagulation group one (n=33), hypocoagulation group two (n=30), and hypocoagulation group three (n=29). The activities of coagulation factors (F) Ⅱ, Ⅴ, Ⅶ, Ⅷ, Ⅸ, Ⅹ, Ⅺ, Ⅻ and von willebrand factor (vWF) were measured and compared for all patients in the test groups and the control group in the same period. Results: Compared with the normal control group, the hypercoagulable group one showed higher FⅡ, FⅤ, FⅦ, FⅧ, FⅪ and vWF activity, and the values were (1 105±281), (1 352±326), (1 628±397), (1 795±314), (1 389±288) and (1 908±486) U/L, respectively (P<0.01). The hypercoagulable group two showed higher FⅡ, FⅤ, FⅦ, FⅧ FⅩ and vWF activity, and the values were (1 068±189), (1 194±205), (1 529±394), (1 562±241), (1 150±196) and (1 722±415) U/L, respectively (P<0.05). Hypercoagulable group three showed higher FⅦ, FⅩ and vWF activity, and the values were (1 411±196), (1 212±327) and (1 713±457) U/L, respectively (P<0.01). In contrast, the hypocoagulation group one showed lower FⅤ, FⅧ, FⅨ, FⅫ and vWF activity, and the values were (732±96), (695±64), (1 216±191), (832±128) and (1 088±117) U/L, respectively (P<0.05). Hypocoagulation group two showed lower FⅤ, FⅦ, FⅧ and FⅫ activity, and the values were (714±102), (1 125±108), (783±95) and (912±111) U/L, respectively (P<0.01). Hypocoagulation group three had lower FⅪ, FⅫ and vWF activity, and the values were (812±92), (827±179) and (916±76) U/L, respectively (P<0.01). Conclusions: Only part of the coagulation factor activity changes significantly in the tumor patients with abnormal coagulation function. In tumor patients with hypercoagulable state, the high activity of FⅡ and FⅩ becomes an important factor in anticoagulant therapy, while high FⅤ, FⅧ activity can cause deep vein thrombosis. In the hypocoagulation state, the significant decreases of FⅤ and FⅧ activity often cause bleeding or oozing.

[Radial artery thrombosis in optical coherence tomography guided transradial coronary angiography and percutaneous coronary intervention in acute coronary syndrome patients and its risk factors analysis].

Objective: To observe the radial artery thrombosis (RAT) during transradial coronary angiography (CAG) and/or percutaneous coronary intervention (PCI) by optical coherence tomography (OCT), and to investigate the risk factors of RAT during the CAG and/or PCI. Methods: In this retrospective study, we consecutively reviewed the radial artery OCT examination results of the patients who underwent OCT guided transradial CAG and/or PCI for acute coronary syndrome in heart center of Beijing Luhe hospital, Capital Medical University from October 2017 to July 2018. The incidence of RAT was observed. The patients were divided into the RAT group and non-RAT group, clinical data were collected and compared. Moreover, the types and distributions of thrombus in radial artery as well as the acute radial artery injuries under OCT were observed. Univariate analysis followed by multivariate analysis were performed to identify potential risk factors. The radial artery patency and ischemic symptoms of the involved limb were followed up at the 24-hour and the 1-month after procedure. Results: A total of 107 patients were included, the age was (58.1±12.5), and 78.5% were male (n=84). The incidence of RAT was 26.2% (n=28, 95%CI 17.9%-34.5%), and the main type of thrombus was white thrombus (n=15, 53.6%). The commonest position of RAT was the proximal portion of radial artery (n=17, 60.7%). The median thrombus volume was 0.05(0.03, 0.38) mm3, and the median thrombus score was 6.5 (3.3, 13.8). In univariate analysis, the frequency of acute radial artery injury and use of bivalirudin were significantly higher and the procedure time was significantly longer in RAT group than those in non-RAT group (all P<0.05). Multivariate regression analysis showed that the radial artery acute injury (OR=5.82, 95%CI: 2.09-16.20, P=0.001) and the procedure time (OR=1.04, 95%CI: 1.01-1.06, P=0.006) were independent risk factors of RAT. Rate of radial artery occlusion at 24 hours follow-up was similar between RAT and non-RAT group (7.14%(2/28), vs. 10.13%(8/79), P=1.000). None of the patients complicated severe ischemic symptom of the operative limb. Conclusions: RAT is a high frequency access complication during transradial coronary intervention. This phenomenon can be accurately observed by OCT. Acute radial artery injury and prolonged procedure time are risk factors of RAT during transradial coronary intervention.

Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease.

BACKGROUND AND PURPOSE: Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aimed to explore the haplotypes encompassing the HTT gene in the Chinese population. METHODS: A total of 406 individuals with HD and 59 normal relatives from 253 families with HD were enrolled. A total of 29 tag single nucleotide polymorphisms (tSNPs) were selected and genotyped for the haplotype analysis. RESULTS: In stage one, we used 18 tSNPs to replicate the distribution of three major haplogroups (A, B, C). We found that risk-associated haplogroup variants A1 and A2, enriched on Caucasian HD chromosomes, were totally absent from both Chinese HD and control chromosomes, and the distributions of haplogroups between HD and control chromosomes were similar. Therefore, in stage two, we used 29 tSNPs (including the18 tSNPs) to define new haplogroups (I, II, III) and found that haplogroup I accounted for 61.4% on HD chromosomes and 34.4% on control chromosomes, indicating that haplogroup I was enriched on Chinese HD chromosomes. CONCLUSIONS: This is the first haplotype analysis encompassing HTT in the Chinese population. The results contribute to explaining the low prevalence of HD in China and provide a better understanding of genetic diversity in the HTT region.

Hypomethylation of CTCFL promoters as a noninvasive biomarker in plasma from patients with hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is the third deadliest cancer in the world with high morbidity and poor prognosis. CTCFL (CCCTC-binding factor like) is a member of the cancer testis antigen (CTA) family with oncogenic properties. To demonstrate whether the hypomethylation of CTCFL promoters in plasma could be used as a noninvasive biomarker to predict poor prognosis of HCC, we extracted cell-free DNA from the plasma and detected the methylation status of CTCFL in 43 HCC, 5 liver cirrhosis and 6 benign lesion samples using methylation specific PCR (MSP). Our study indicated that the hypomethylation of CTCFL promoters in HCC plasma samples (60.4%) was significantly different from that in benign lesion plasma samples (16.7%) with a p-value of 0.043. Analysis of clinicopathological data showed that the methylation status of CTCFL promoters was significantly correlated with microvascular involvement (MVI) (p=0.001) and postoperative recurrence (p=0.031). Furthermore, clinical prognosis data of 347 HCC patients from The Cancer Genome Atlas (TCGA) database displayed that the hypomethylated group had worse overall survival than the hypermethylated group (p=0.0056). In conclusion, we provide evidence that the hypomethylation of CTCFL promoters in cell-free DNA is a biomarker for monitoring HCC patients, which can be used as a noninvasive prediction index for tumor recurrence and provide the individualized decision-making for clinicians.

[A clinical analysis of 14 cases of prostatic stromal tumor of uncertain malignant potential].

OBJECTIVE: To investigate the clinical and pathologic characteristics, diagnosis, treatment, prognosis and survival of prostatic stromal tumor of uncertain malignant potential. METHODS: Overall 14 patients with prostatic stromal tumor of uncertain malignant potential were treated from October 2008 to April 2020, the patient age ranged from 27 to 78 years (mean 54 years). The disease duration was 1 to 180 months (mean duration of 46 months). The clinical manifestations mainly included urinary obstructive symptoms and urethral irritating symptoms. The tumors were located in the peripheral zone or the transition zone. Digital rectum examination indicated prostatic tumor. Serum prostatic specific antigen level was always normal or elevated. Transrectal ultrasonography and magnetic resonance imaging indicated prostatic tumor. Magnetic resonance imaging in showed large, round, well-defined masses, which were diffusely heterogeneous signal on T2 weighted imaging. Following the administration of intravenous contrast medium, the lesion had diffuse and heterogeneous enhancement. RESULTS: In the study, 3 cases underwent prostate biopsy, 2 cases underwent transurethral resection of the prostate, 9 cases underwent radical excision or transurethral resection of the prostate with definite diagnosis of pathologic features. Under the light microscope, the interstitial cells of stromal tumor of uncertain malignant potential were overgrowth and fusiform cells showed some degree of pleomorphism, nuclei with few mitotic figures, and necrosis was not often seen. Immunohistochemical staining showed that prostate specific antigen was negative, while vimentin was positive in the tumor tissue, CD34, progesterone receptor and smooth muscle actin were positive in the majority, and Ki67 positive index was 1%-20% (mean 6%). Twelve cases were followed-up, and the time of survival varied from 10 to 96 months (mean 65 months), two cases were lost to the follow-up, one case died of disease at the end of 10 months, nine cases were free of disease recurrence after surgery, two cases underwent more transurethral resection of the prostate due to local recurrence. CONCLUSION: STUMP is a very rare tumor of the specialized prostatic stroma with an unpredictable clinical behavior. The clinical manifestations, transrectal ultrasonography and magnetic resonance imaging are valuable for the diagnosis of prostatic stromal tumor of uncertain malignant potential. Its definite diagnosis depends on pathological examination. Up to now, early surgery and combined therapy are effective treatments for prostatic stromal tumor of uncertain malignant potential.

[Changes of urinary monocyte chemotactic protein 1 and epidermal growth factor and their correlations with clinicopathology in idiopathic membranous nephropathy patients].

Objective: To explore the changes and clinical value of urinary monocyte chemotactic protein 1 (MCP-1), epidermal growth factor (EGF) and their ratio in patients with idiopathic membranous nephropathy (IMN). Methods: A total of 67 IMN patients were enrolled according to kidney biopsy in the Department of Nephrology of the First Affiliated Hospital of Zhengzhou University from January 2017 to December 2018. The patients included 28 males and 39 females, with an average age of (47.6±14.2) years. Eighteen age-and sex-matched healthy controls were also enrolled. Clinical and pathological data, blood and urine samples of all subjects were collected. Urinary MCP-1 and EGF level were detected by enzyme-linked immunosorbent assay (ELISA). And then the levels of urinary MCP-1, EGF and the ratio of EGF/MCP-1 and their correlations with clinicopathology were analyzed. Results: There was no statistical difference of the urine EGF levels between the two groups [8.3(6.0,12.6) vs 8.4(6.5,10.2) ng/mg Cr, P=0.575]. The urine MCP-1 levels of IMN patients were 0.37 (0.21, 0.69) ng/mg Cr, which was statistical significantly higher than those of the control group [0.09 (0.02, 0.19) ng/mg Cr] (P<0.001), while the EGF/MCP-1 ratio was lower than that of the control group [22.2(15.1,36.6) vs 87.6(71.2,132.7), P<0.001]. Urine MCP-1 was negatively correlated with eGFR (r=-0.303, P=0.012), but positively correlated with the urinary ratio of albumin to creatinin (r=0.368, P=0.002). EGF was positively correlated with eGFR (r=0.722, P<0.001), but negatively correlated with the severity of interstitial fibrosis and renal tubular atrophy (IFTA) (r=-0.312, P=0.011). EGF/MCP-1 ratio was positively correlated with eGFR (r=0.693, P<0.001), but negatively correlated with the severity of the urinary ratio of albumin to creatinin and IFTA (r=-0.261, P=0.028 and r=-0.684, P<0.001, respectively). Further multivariate logistic regression analysis showed that EGF/MCP-1 was a protective factor for moderate-to-severe IFTA (OR=0.891, 95%CI: 0.844-0.949, P=0.008). Conclusion: Patients with IMN have elevated urine MCP-1 level and decreased EGF/MCP-1 ratio, which correlate with clinical indicators. In particular, EGF/MCP-1 ratio is independently related to moderate-severe IFTA, and may be a potential clinical biomarker for diagnosis of IMN.

[Clinical features of long segmental myelopathy caused by nitrous oxide].

OBJECTIVE: To analyze the clinical and imaging characteristics of the neurological damage caused by nitrous oxide (N2O). METHODS: In the study, 10 patients in the Department of Neurology of China-Japan Friendship Hospital from October 2015 to February 2018 were retrospectively analyzed for the demographic data, the history of inhaled N2O, clinical features, blood examination, electrophysiological examination, spinal magnetic resonance imaging and therapeutic efficacy profiles. RESULTS: The male-to-female ratio was 4:6 and it presented with an age-of-onset 17-26 years [the average age: (20.80±3.12) years]. The time from inhaled N2O to onset was 1 month to 1 year [the average time: (6.95±4.19) months]. Paralysis in all the patients and numbness in 9 patients were the main clinical features, while positive Lhermitte's sign in 3 patients, urinary and defecation disturbance in 4 patients were also found. Blood examination indicated anemia in 2 patients, giant cell anemia in 1 case and small cell hypochromic anemia in 1 case. 3 cases had been treated with vitamin B12 in an external hospital, and the other 7 cases had abnormal increase in homocysteine levels. Electrophysiological examinations showed sensory and motor nerve involvement in 9 patients, and motor nerve involvement in 1 patient. The severity of lower extremity lesion was significantly heavier than that of upper extremity. Spinal magnetic resonance imagings showed that long segmental lesions were present in the cervical spinal cord of all the patients, 3 cases with long segmental lesions of the thoracic cord and 2 cases with spinal cord swelling. In 6 cases, the horizontal axis had an "inverted V-type" T2 high signal, 1 case was classified as "crescent", and 3 cases were "eight-shaped". The symptoms in these 10 cases were alleviated in varying degrees after stopping the inhalation of nitrous oxide, actively supplementing high doses of vitamin B12 and doing early rehabilitation exercises. CONCLUSION: Myelopathy with nitrous oxide presents as paralysis and numbness in limb extremities. In imaging, cervical spinal cord damage is common, accompanied by thoracic spinal cord damage. The horizontal axis is more common in the "inverted V-type". Treatment with high doses of vitamin B12 is effective.

[Magnetic resonance imaging and diffusion weighted imaging features of focal peliosis hepatis].

Objective: To investigate the MRI and diffusion weighted imaging (DWI) features of focal peliosis hepatis. Methods: The clinical data and MRI of 19 cases with focal peliosis hepatis confirmed by pathology from January 2012 to March 2018 in Zhongshan Hospital of Fudan University were retrospectively analyzed. The number, location, size, shape, signal intensity of plain scan of lesions, enhancement pattern of lesions, vessels within lesions, and perfusion disorders of hepatic parenchyma were analyzed. The apparent diffusion coefficient (ADC) values of the lesions and adjacent hepatic parenchyma were measured, then the differences between them were explored statistically. All 24 lesions were categorized into group A with tumor-related chemotherapy and group B without tumor-related chemotherapy. The differences of MR features between the two groups were explored statistically. Results: In all 24 lesions, 22 lesions were located in the right lobe, 2 lesions in the left lobe. The median size was 7.5-72.0 (24.4±17.2) mm.On T(1)WI,21 lesions showed slightly hypointensity, 1 lesion showed slightly hyperintensity and 2 lesions were isointensity; all 24 lesions showed slightly hyperintensity on T(2)WI, and isointensity or slightly hyperintensity on DWI. The mean ADC value was (1.511±0.415)×10(-3) mm(2)/s in the lesions and (1.769±0.690)×10(-3) mm(2)/s in the adjacent hepatic parenchyma, which showed no difference between the two groups (P>0.05). On dynamic MR images, 20 lesions showed gradually filling enhancement, 4 lesions showed markedly and persistent enhancement. Punctiform or filiform vessels were found in 9 lesions. Adjacent hepatic perfusion disorders showed in 8 lesions. The median lesion size was 7.5-38.5(17.6±9.8) mm in the tumor-related-chemotherapy group and 9.0-72.0(33.8±21.2) mm in the no chemotherapy group.There was significant difference between the two groups (P<0.05). Conclusions: The MRI performance of focal peliosis hepatis had a certain characteristic. MRI combined with diffusion weighted imaging could help to make diagnoses.

[Cytomegalovirus active infection after kidney transplantation affecting the expression of activation receptor CD226 on NKT cell].

Objective: To investigate the effect of active cytomegalovirus infection post kidney transplant on the expressing of receptor CD226 on NKT cell. Methods: Case controlled study. From December 2013 to December 2014, 43 cases of kidney transplant recipient with CMV infection were collected in the Organ Transplantation Research Institute of the former 309th Hospital of PLA. The healthy control group included 15 cases. 15 cases of recipients who were stable after operation and followed up in our hospital at the same time were also collected as control. Peripheral blood specimen with EDTA as anticoagulant were used and analyzed by flow cytometry. Results: The population of NKT in CMV infection recipients were 5.19(1.18, 25.92)%, while in the remission stage the population were 4.89(0.68, 25.33)%, Compared with normal healthy controls and the stable recipients, the percentage of CD3(+)CD56(+) NKT cells in periphery blood mononuclear cells did not vary among these groups(P>0.05). The CD226(+) NKT population during the active CMV infection was (70±13)%, which was significantly lower than the health control [(87±10)%] and stable recipients [(80±9)%](P<0.001). Whereas in the CMV infection remission stage, the CD226(+)NKT population was (81±16)%, which was significantly higher than that of CMV active infection group (P<0.05), and showed no difference with the health control group and stable recipients (P>0.05). The CD226 MFI expressed on NKT in CMV infection group was 101±49, which showed no difference with health controls and stable recipients (P>0.05). However, significantly up regulation of CD226 MFI on NKT was observed in the samples obtained from the same recipients in CMV active infection (91±40) and in CMV regression stage(173±73)(P<0.001). Conclusions: The CD226(+) NKT cells population was down during the active CMV infection post kidney transplantation, while the expression of CD226 and the population of CD226(+)NKT could regression when the CMV infection regressed, which indicates the involvement of CD226 in the process of NKT cells anti-CMV infection.

[Impact and related mechanism on the improvement of hyperglycemia-induced pyroptosis in H9c2 cells by mircoRNA-214].

Objective: To investigate whether microRNA(miR)-214 can improve hyperglycemia induced pyroptosis in H9c2 cells through targeting caspase-1. Methods: H9c2 cells of rats those in good growth condition were selected and incubated into the T25 culture bottle after digestion and passage. Cells were cultured in an incubator at 37 ℃ with 5%CO(2), repeat passage was made after cell density reached about 80%, The 5(th) to 8(th) generations of cells were selected for the subsequent experiments. To observe the effect of overexpression of miR-214 on pyroptosis and caspase-1 expression in H9c2 cells induced by hyperglycemia, the cells were divided into 4 groups: Control group(H9c2 cells cultured normally), Hyperglycemia group (HG group, 50 mmol/L glucose was used to intervene H9c2 cells for 24 hours), miR-214 mimics+hyperglycosis group (mimics+HG group, H9c2 cells were transfected with miR-214 mimics for 24 hours and then treated with 50 mmol/L hyperglycosis for 24 hours), miR-214 mimic-negative control+hyperglycaemic group(MNC+HG group, H9c2 cells were transfected with miR-214 mimic-negative control for 24 hours and then treated with 50 mmol/L hyperglycaemic for 24 hours). In order to further verify the anti-pyroptosis effect of miR-214 was mediated by targeted inhibition on caspase-1, cells overexpressing caspase-1 were used in the rescue experiment. The cells overexpressing caspase-1 were divided into 4 groups: Hyperglycemia group (HG group, 50 mmol/L glucose was used to intervene H9c2 cells for 24 hours), miR-214 mimics+hyperglycosis group (mimics+HG group, H9c2 cells were transfected with miR-214 mimics for 24 hours and then treated with 50 mmol/L hyperglycosis for 24 hours), miR-214 mimics+hyperglycosis+recombinant adenovirus (Ad-caspase-1-EGFP) group with caspase-1 gene and EGFP green fluorescent protein expression (mimics+HG+Ad-caspase-1-EGFP group, H9c2 cells were transfected with caspase-1-green fluorescent protein-carrying adenovirus for 48 hours, followed by transfection of miR-214 mimics for 24 hours, and then treated with 50 mmol/L hyperglycaemia for 24 hours), miR-214 mimics+HG+Ad-EGFP empty virus group (mimics+HG+Ad-EGFP group, H9c2 cells were transfected with empty adenovirus containing green fluorescent protein for 48 hours, followed by transfection with miR-214 mimics for 24 hours, and then treated with 50 mmol/L hyperglycosis for 24 hours). The mRNA expression levels of miRNA-214 and caspase-1 in cells were detected by real-time quantitative PCR. The expression and localization of caspase-1 protein were detected by immunofluorescence assay. Western blot was used to detect protein expression levels of procaspase-1, cleaved caspase-1, NLRP3 and ACS with ß-actin as internal reference. The secretion of IL-1ß and IL-18 in cell culture medium was detected by ELISA. The correlation between miR-214 and caspase-1 was detected by double luciferase reporter gene. Results: (1) The mRNA expression levels of miR-214 and caspase-1 in each group: the mRNA expressions of miR-214 in HG group and MNC+HG group were significantly lower than that in control group(P<0.05). The mRNA expression of miR-214 in mimics+HG group was significantly higher than that in control group (P<0.05). The mRNA expression levels of caspase-1 in HG group and MNC+HG group were significantly higher than that in control group(P<0.05). The mRNA expression level of caspase-1 in mimics+HG group was lower than that in control group(P<0.05). (2) The expression of caspase-1 in each group: the green fluorescence intensity in the control group was weak, which was strong in the HG group and MNC+HG group. The green fluorescence expression was weaker in mimics+HG group than in HG group. (3) ASC and NLRP3 protein expression levels in each group: ASC and NLRP3 protein expression levels in HG group and MNC+HG group were higher than those in control group(P<0.05). ASC and NLRP3 protein expression levels were significantly lower in mimics+HG group than in mimics+HG group (P<0.05). (4) The secretion of IL-1ß and IL-18 in the cell culture medium of each group: the content of IL-1ß and IL-18 in the cell culture medium of HG group and MNC+HG group was significantly higher than that of control group (P<0.05). The content of IL-1ß and IL-18 in the cell culture medium of mimics+HG group was significantly lower than that of the HG group (P<0.05). (5) Correlation between miR-214 and caspase-1: miR-214 specifically binds to caspase-1 3 'UTR. Meanwhile, Western blot results showed that cleaved caspase-1 protein expression levels were significantly higher in both HG group and MNC+HG group than in control group (P<0.05). The levels of cleaved caspase-1 were significantly lower in mimics+HG group than in HG group (P<0.05). There was no significant difference in procaspase-1 expression among groups (P>0.05). (6) The expression levels of procaspase-1, cleaved caspase-1, ASC and NLRP3 in each group in rescue experiment: there was no significant difference in the expression of procaspase-1 in each group (P>0.05). Cleaved caspase-1, ASC and NLRP3 protein expressions were significantly lower in mimics+HG group than in HG group (P<0.05). However, cleaved caspase-1, ASC and NLRP3 protein expressions were significantly higher in mimics+HG+ Ad-caspase-1-EGFP group than in mimics+HG group (P<0.05). (7) The expression of IL-1ß and IL-18 in rescue experiment: the secretions of IL-1ß and IL-18 in the cell culture medium of the mimics+HG group were significantly lower than that of HG group (P<0.05), which were significantly higher in mimics+HG+Ad-caspase-1-EGFP group than in mimics+HG group (P<0.05). Conclusion: miR-214 can improve the hyperglycemia induced pyroptosis in H9c2 cells by targeted inhibition of the caspase-1.

[Comparison of gut microbiotal compositional analysis of patients with irritable bowel syndrome through different bioinformatics pipelines].

OBJECTIVE: To assess whether the same biological conclusion, diagnostic or curative effects regarding microbial composition of irritable bowel syndrome (IBS) patients could be reached through different bioinformatics pipelines, we used two common bioinformatics pipelines (Uparse V2.0 and Mothur V1.39.5)to analyze the same fecal microbial 16S rRNA high-throughput sequencing data. METHODS: The two pipelines were used to analyze the diversity and richness of fecal microbial 16S rRNA high-throughput sequencing data of 27 samples, including 9 healthy controls (HC group), 9 diarrhea IBS patients before (IBS group) and after Rifaximin treatment (IBS-treatment, IBSt group). Analyses such as microbial diversity, principal co-ordinates analysis (PCoA), nonmetric multidimensional scaling (NMDS) and linear discriminant analysis effect size (LEfSe) were used to find out the microbial differences among HC group vs. IBS group and IBS group vs. IBSt group. RESULTS: (1) Microbial composition comparison of the 27 samples in the two pipelines showed significant variations at both family and genera levels while no significant variations at phylum level; (2) There was no significant difference in the comparison of HC vs. IBS or IBS vs. IBSt (Uparse: HC vs. IBS, F=0.98, P=0.445; IBS vs. IBSt, F=0.47,P=0.926; Mothur: HC vs.IBS, F=0.82, P=0.646; IBS vs. IBSt, F=0.37, P=0.961). The Shannon index was significantly decreased in IBSt; (3) Both workshops distinguished the significantly enriched genera between HC and IBS groups. For example, Nitrosomonas and Paraprevotella increased while Pseudoalteromonadaceae and Anaerotruncus decreased in HC group through Uparse pipeline, nevertheless Roseburia 62 increased while Butyricicoccus and Moraxellaceae decreased in HC group through Mothur pipeline.Only Uparse pipeline could pick out significant genera between IBS and IBSt, such as Pseudobutyricibrio, Clostridiaceae 1 and Clostridiumsensustricto 1. CONCLUSION: There were taxonomic and phylogenetic diversity differences between the two pipelines, Mothur can get more taxonomic details because the count number of each taxonomic level is higher. Both pipelines could distinguish the significantly enriched genera between HC and IBS groups, but Uparse was more capable to identity the difference between IBS and IBSt groups. To increase the reproducibility and reliability and to retain the consistency among similar studies, it is very important to consider the impact on different pipelines.