Objective:To detect the cystic fibrosis transmembrane transduction regulator(CFTR)gene mutations and congenital bilateral absence of vas deferens(CBAVD)susceptibility gene mutations in pa-tients with CBAVD,and to explore their association with the risk of CBAVD.Methods:Whole-exome sequencing and Sanger sequencing validation were conducted on the pathogenic genes CFTR,adhesion G protein-coupled receptor G2(ADGRG2),sodium channel epithelial 1 subunit beta(SCNN1B),carbonic anhydrase 12(CA12),and solute carrier family 9 member A3(SLC9A3)in thirteen cases of isolated CBAVD patients.The polymorphic loci,intron and flanking sequences of CFTR gene were amplified by polymerase chain reaction(PCR)followed by Sanger sequencing.Bioinformatics methods were employed for conservative analysis and deleterious prediction of novel susceptibility gene mutations in CBAVD.Ge-netic analysis was performed on the pedigree of one out of thirteen patients with CBAVD to evaluate the risk of inheritance in offspring.Results:Exome sequencing revealed CFTR gene exon mutations in only six of the thirteen CBAVD patients,with six missense mutations c.2684G＞A(p.Ser895Asn),c.4056G＞C(p.Gln1352His),c.2812G＞(p.Val938Leu),c.3068T＞G(p.Ile1023Arg),c.374T＞C(p.Ile125Thr),c.1666A＞G(p.Ile556Val)),and one nonsense mutation(c.1657C＞T(p.Arg553Ter).Among these six patients,two also had the CFTR homozygous p.V470 site,additional-ly,mutations in CFTR gene exon regions were not detected in the remaining seven patients.Within the thirteen CBAVD patients,three carried the homozygous p.V470 polymorphic site,four carried the 5T al-lele,two carried the TG13 allele,and ten carried the c.-966T＞G site.Four CBAVD patients simulta-neously carried 2-3 of the aforementioned CFTR gene mutation sites.Susceptibility gene mutations in CBAVD among the thirteen patients included one ADGRG2 missense mutation c.2312A＞G(p.Asn771Ser),two SLC9A3 missense mutations c.2395T＞C(p.Cys799Arg),c.493G＞A(p.Val165Ile),one SCNN1B missense mutation c.1514G＞A(p.Arg505His),and one CA12 missense mutation c.1061C＞T(p.Ala354Val).Notably,the SLC9A3 gene c.493 G＞A(p.Val165Ile)mutation site was first identi-fied in CBAVD patients.The five mutations exhibited an extremely low population mutation frequency in the gnomAD database,classifying them as rare mutations.Predictions from Mutation Taster and Poly-phen-2 software indicated that the harmfulness level of the SLC9A3 gene c.493G＞A(p.Val165Ile)site and the SCNN1B gene c.1514G＞A(p.Arg505His)site were disease causing and probably damaging.The genetic analysis of one pedigree revealed that the c.1657C＞T(p.Arg553Ter)mutation in the proband was a de novo mutation,as neither the proband's father nor mother carried this mutation.The proband and his spouse conceived a daughter through assisted reproductive technology,and the daughter inherited the proband's pathogenic mutation c.1657C＞T(p.Arg553Ter).Conclusion:CFTR gene mutations remain the leading cause of CBAVD in Chinese patients;however,the distribution and fre-quency of mutations differ from data reported in other domestic and international studies,highlighting the need to expand the CFTR mutation spectrum in Chinese CBAVD patients.The susceptibility genes ADGRG2,SLC9A3,SCNN1B,and CA12 may explain some cases of CBAVD without CFTR mutations.Given the lack of specific clinical manifestations in CBAVD patients,it is recommended that clinicians conduct further physical examinations and consider scrotal or transrectal ultrasound before making a defi-nitive diagnosis.It is advisable to employ CFTR gene mutation testing in preconception genetic screening to reduce the risk of CBAVD and cystic fibrosis in offspring.

Objective:To analyze the types and distribution characteristics of elements in drinking water from endemic fluorosis areas with water improvement in Xi'an City, understand the relationship between fluoride and various elements, and conduct health risk assessment on potential high-risk elements.Methods:From May to June 2017, one endemic fluorosis area with water improvement (Gaoling District, Huyi District, Lintong District) was selected according to the northeast, the southwest and the due east directions of Xi'an City as the survey area. Sixteen endemic fluorosis villages were selected from each endemic area, and 2 water samples were collected from each endemic village to detect fluoride and 12 elements such as chromium, manganese, ferrum, copper, zinc, arsenic, selenium, molybdenum, cadmium, antimony, barium, and lead. Hygienic evaluation was conducted according to national standards, and the potential high-risk elements (arsenic, molybdenum) were assessed for health risk through the health risk assessment model recommended by the National Environmental Protection Agency of the United States.Results:The water samples from the endemic fluorosis areas in Xi'an City mainly contained seven elements: barium, ferrum, molybdenum, arsenic, zinc, manganese, and chromium. The content of copper and selenium was relatively low, while the content of cadmium, antimony, and lead was extremely low. The fluoride content in water samples from Gaoling District and Lintong District was relatively high, and the fluorine, arsenic, molybdenum elements was pairwise positively correlated ( P < 0.05). The molybdenum element in water samples from Lintong District exceeded 9.38% (3/32). The fluoride in the water samples of Huyi District was relatively low, and the arsenic, molybdenum elements was positively correlated ( r = 0.84, P < 0.001), and the arsenic element exceeded the standard by 25.00% (8/32). The main health risk of drinking water in endemic fluorosis areas with water improvement in Xi'an City was arsenic exposure, with children at a higher risk than adults, and the areas of Huyi District, Lintong District, and Gaoling District declined, the risk of cancer (CR) of Gaoling District was < 10 -4 and hazard quotient (HQ) was < 1. However, in the areas of Huyi District and Lintong District (except HQ of adults), there was a higher risk (CR > 10 -4, HQ > 1). Children in one endemic fluorosis village in Lintong District had a higher non carcinogenic risk of molybdenum (HQ > 1). Conclusions:The drinking water in endemic fluorosis areas with water improvement in Xi'an City mainly contains 7 elements, especially arsenic and molybdenum, which need to be regularly monitored. Some areas have high health risks of arsenic in water, and monitoring, management, and related epidemiological investigations need to be strengthened. At the same time, it is necessary to actively monitor other toxic and harmful substances that may be introduced during the water improvement process to prevent the occurrence of secondary health problems.

Objective:To investigate the short term efficacy of laparoscopic assisted transanal total mesorectal excision (taTME) for low rectal cancer.Methods:The prospective study was conducted. The clinicopathological data of 80 patients who underwent laparoscopic assisted taTME for low rectal cancer in 8 medical centers，including 27 cases in the First Affiliated Hospital of Jilin University，16 cases in the Daping Hospital of Army Medical University，15 cases in the Beijing Friendship Hospital of Capital Medical University，10 cases in the Peking University Cancer Hospital，7 cases in the Peking Union Medical College Hospital of Chinese Academy of Medical Sciences，2 cases in the Peking University People′s Hospital，2 cases in the Liaoning Cancer Hospital Institute，1 case in the Ruijin Hospital of Shanghai Jiaotong University School of Medicine，from August 2017 to September 2018 were collected. Observation indicators：(1) clinical data of enrolled patients；(2) surgical situations；(3) postoperative histopathological examination；(4)postoperative complications and hospitalization. Measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers and (or) percentages. Results:(1) Clinical data of enrolled patients：a total of 80 patients were selected for eligibility. There were 59 males and 21 females，aged from 53 to 79 years，with a median age of 61 years. (2）Surgical situations：all 80 patients underwent surgery successfully，including 73 cases undergoing low anterior resection，4 cases undergoing Hartmann operation，1 case undergoing intersphincteric and abdominoperineal resection，1 case undergoing other operations and 1 case missing operation information. Nineteen of the 80 patients underwent transabdominal and transanal operations simultaneously. The operation time of 80 patients was 255 minutes (range，211?305 minutes). Of 80 patients，77 cases had the volume of intraoperative blood loss ≤500 mL，3 cases had the volume of intraoperative blood loss >500 mL，44 cases underwent instrumental anastomosis，24 cases underwent manual anastomosis，12 cases were missing anastomosis information，66 cases had specimens been taken out through anus，2 cases had specimens been taken out through Pfannens-tiel incision，10 cases had specimens been taken out through other ways，2 cases were missing the information of specimens removal ways，57 cases underwent preventive stoma，32 cases under-went anal canal indwelling，30 cases underwent free of splenic flexure and 2 cases were converted to open surgery. (3) Postoperative histopathological examination：of 80 patients，68 cases had the integrity of mesorectal specimens with complete，5 cases had the integrity of mesorectal specimens with near complete，1 case had the integrity of mesorectal specimens with not complete，6 cases were missing the information of integrity of mesorectal specimens，1 case had rectal perforation，1 case had positive circumferential margin and 1 case had positive distal margin. The number of lymph node dissected and diameter of tumor were 12(range，9?16) and 3.0 cm(range，1.9?4.0 cm) of 80 patients. Four of 80 patients achieved pathological complete remission. Cases with tumor stage as T0 stage，Tis stage，T1 stage，T2 stage，T3 stage or T4 stage of the pT staging，cases with tumor stage as N0 stage，N1 stage or N2 stage of the pN staging，cases with tumor stage as M0 stage or M1 stage of the pM staging were 4，2，11，24，35，4，55，21，4，75，5 of 80 patients. (4) Postopera-tive complications and hospitalization：8 of 80 patients underwent anastomotic leakage，including 2 cases with grade A anastomotic leakage，4 cases with grade B anastomotic leakage and 2 cases with grade C anastomotic leakage.Seven of 80 patients underwent intestinal obstruction. The 2 cases with grade A anastomotic leakage were improved after symptomatic drug treatment，the 4 cases with grade B anastomotic leakage were improved after treatment with antibiotics or catheter drainage and the 2 cases with grade C anastomotic leakage were improved after operation. The duration of hospital stay of 80 patients was 14 days(range，11?21 days). No patient died during hospitalization.Conclusion:Laparoscopic assisted taTME for low rectal cancer is safe and feasible，which has a good short term efficacy.

Objective:To construct the scientific nursing standards for extracorporeal membrane oxygenation combined with intra-aortic balloon pumping after heart transplantation that meets clinical needs.Methods:Through literature retrieval, case review, and expert interviews, a preliminary letter questionnaire was established for nursing standards of extracorporeal membrane oxygenation combined with intra-aortic balloon pumping after heart transplantation. From February to June 2018, we selected 21 medical and nursing experts in anesthesia, cardiopulmonary bypass, critical care medicine for two rounds of Delphi consultation.Results:Through two rounds of expert consultation, the nursing standards for extracorporeal membrane oxygenation combined with intra-aortic balloon pumping after heart transplantation were determined. The standards included 4 first-level indicators, 10 second-level indicators and 33 third-level indicators.Conclusions:The nursing standards for extracorporeal membrane oxygenation combined with intra-aortic balloon pumping after heart transplantation are scientific and reliable, which provides a reference for the nursing of extracorporeal membrane oxygenation combined with intra-aortic balloon pumping after heart transplantation.

Objective:To investigate the incidence and influencing factors of anastomotic leakage after anterior resection (AR) for rectal cancer.Methods:The retrospective case-control study was conducted. The clinicopathological data of 1 243 patients with rectal cancer who were admitted to 3 medical centers between August 2008 and July 2017 were collected, including 512 in the Beijing Friendship Hospital of Capital Medical University, 480 in the Cancer Hospital of Chinese Academy of Medical Sciences, 251 in the Peking University People′s Hospital. There were 734 males and 509 females, aged from 25 to 89 years, with an average age of 65 years. All patients underwent AR for rectal cancer. Observation indicators: (1) surgical situations and incidence of postoperative anastomotic leakage; (2) influencing factors for postoperative anastomotic leakage. Measurement data with skewed distribution were represented as M (range). Count data were represented as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test or Fisher exact probability. Univariate analysis was conducted using the chi-square test. Multivariate analysis was conducted using the Logistic regression model based on factors with P<0.10 in the univariate analysis. Results:(1) Surgical situations and incidence of postoperative anastomotic leakage: all the 1 243 patients with rectal cancer underwent successfully AR including 219 undergoing defunctioning stoma and 1 024 undergoing non-defunctioning stoma, of which 70 patients had postoperative anastomotic leakage, with a total incidence rate of 5.632%(70/1 243). The incidence rates of grade A anastomotic leakage, grade B anastomotic leakage, and grade C anastomotic leakage were 27.1%(19/70), 21.4%(15/70), 51.4%(36/70), respectively. (2) Influencing factors for postoperative anastomotic leakage: results of univariate analysis showed that gender, surgical procedure, volume of intra-operative blood loss, and pathological metastasis staging were related factors for anastomotic leakage after AR ( χ2=8.518, 6.548, 10.834, 4.501, P<0.05). Results of multivariate analysis based on factors with P<0.10 in the univariate analysis showed that male and volume of intraoperative blood loss≥100 mL were independent risk factors for anastomotic leakage after AR [ odds ratio ( OR)=2.250, 1.949, 95% confidence interval ( CI): 1.281-3.952, 1.142-3.324, P<0.05)]; defunctioning stoma was an independent protective factor for anastomotic leakage after AR ( OR=0.449, 95% CI: 0.201-1.001, P<0.05). Subgroup analysis on effects of defunctioning stoma versus non-defunctioning stoma on grade of anastomotic leakage showed that percentage of grade C anastomotic leakage for defunctioning stoma group was 14.3%(1/7), versus 55.6%(35/63) for non-defunctioning stoma group, with a significant difference between the two groups ( χ2=9.570, P<0.05). Conclusions:Male and volume of intraoperative blood loss≥100 mL are independent risk factors for anastomotic leakage after AR. Defunctioning stoma is an independent protective factor for anastomotic leakage after AR. For male patients and patients with large volume of intraoperative blood loss, defunctioning stoma is recommended to reduce the incidence of postoperative anastomotic leakage.

OBJECTIVE: To develop a digital breast tomosynthesis (DBT) imaging system with optimizes imaging chain. METHODS: Based on 3D tomography and DBT imaging scanning, we analyzed the methods for projection data correction, geometric correction, projection enhancement, filter modulation, and image reconstruction, and established a hardware testing platform. In the experiment, the standard ACR phantom and high-resolution phantom were used to evaluate the system stability and noise level. The patient projection data of commercial equipment was used to test the effect of the imaging algorithm. RESULTS: In the high-resolution phantom study, the line pairs were clear without confusing artifacts in the images reconstructed with the geometric correction parameters. In ACR phantom study, the calcified foci, cysts, and fibrous structures were more clearly defined in the reconstructed images after filtering and modulation. The patient data study showed a high contrast between tissues, and the lesions were more clearly displayed in the reconstructed image. CONCLUSIONS This DBT imaging system can be used for mammary tomography with an image quality comparable to that of commercial DBT systems to facilitate imaging diagnosis of breast diseases.
Algorithms ; Artifacts ; Breast ; diagnostic imaging ; Female ; Humans ; Mammography ; methods ; Phantoms, Imaging ; Radiographic Image Enhancement ; methods

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 explore the effect of transanal total mesorectal excision (TaTME) structured training on the operation of frozen cadaver specimens in mainland China.Methods The retrospective crosssectional study was conducted.The data of 9 trainees who participated in the 1st TaTME structured training between April 12 and 13,2018 were collected.Chinese Society of Colorectal Surgery,Chinese Society of TaTME Surgeons and Beijing Anatomy Society were the host of TaTME structured training,Beijing Friendship Hospital of Capital Medical University and Clinical Applied Anatomy Science and Technology Training Center of Beijing Society for Anatomy Society were the undertakers.The courses included theoretical teaching,operation demonstration and frozen cadaveric specimens operation.Nine trainees were allocated into the 3 groups,including trainees A,C,E in group 1,trainees B,D,F in group 2 and trainees G,H,I in group 3.The special questionnaire survey was carried out on all the trainees at 3 months after the end of the training,contents included the number and proficiency of TaTME before and after training,reasons for not performing TaTME,learning curve of TaTME,TaTME-related complications and adverse reactions,whether or not to continue TaTME in future,effects of training,whether or not necessary to take training before TaTME.Observation indicators:(1) situations of trainees taking part in theoretical lectures and operation demonstration;(2) situations of trainees taking part in frozen cadaveric specimens operation;(3) questionnaire survey situations of trainees at 3 months after training.Comparison of trainees before and after training was done by the rank-sum test.Results (1) Situations of trainees taking part in theoretical lectures and operation demonstration:9 trainees received theoretical lectures and operation demonstration.The theoretical lectures helped deepen understanding of the TaTME,and operation demonstration gave an intuitive feel of technical points and considerations for TaTME.(2) Situations of trainees taking part in frozen cadaveric specimens operation:9 trainees performed successfully frozen cadaveric specimens operation under the guidance of the instructors to achieve training purposes.Overall evaluation of the instructors:anastomotic stoma was intact in 3 groups;grading 2 of Quirke grading of mesorectum was detected in group 1 and 2,and grading 3 in group 3;the main difficulty of complications was incorrect interstice operation and poor smog control,and urethral injury occurred in group 3.(3) Questionnaire survey situations of trainees at 3 months after training:2,2,2 and 3 trainees after training carried respectively on more than 10,6-10,1 and 0 times TaTME,2,2,1 and 4 trainees before training carried respectively on 6-10,2-5,1 and 0 in number of TaTME before and after training,with no statistically significant difference (Z =1.000,P＞ 0.05).Three trainees didn't perform TaTME due to no suitable patient,no equipment for TaTME and incompletely master operating of TaTME.After training,1 trainee was very proficient for TaTME,3,3 and 2 trainees respectively needed to 1/4,1/2 and 3/4 of guidance;before training,1,4 and 3 trainees needed to respectively 1/4,1/2 and 3/4 of guidance,and 3 trainees were very inaptitude for TaTME,with no statistically significant difference in proficiency of TaTME before and after training (Z=1.243,P＞0.05).Five of 9 trainees thought that finishing learning curve needed 10 times TaTME.TaTME-related complications and adverse reactions included urethral injury,bleeding,incorrect interstice operation and incomplete specimens.Eight of 9 trainees expressed that would continue to carry on TaTME.All trainees thought TaTME structured training was very necessary and training should be finished before TaTME.Conclusions The TaTME structured training program on the operation of frozen cadaver specimens is a new attempt.The structured and standardized TaTME training is a necessary condition for clinical performing of TaTME,which is conductive to improving the safety and effectiveness of TaTME.

Objective To analyze the effect of clinical pharmacists involving in JCI clinical care program certification-AMI(CCPC-AMI) on the compliance rates of clinical drug treatment guideline and the awareness rates of patient medication health education in cardiovascular.Methods Selected cases of acute myocardial infarction(AMI) from March to August in 2015 was as the former group,from September 2015 to March 2016 as the latter group in their hospital,then comparative analysis of two groups was done by statistical method.Results After clinical pharmacists involved in CCPC-AMI,the compliance rates of AMI clinical drug treatment guidelines (after the AMI diagnosis, the 10min was given aspirin, intensified statin therapy and dose selection, the use of ACEI/ARB before discharge and the use of beta blocker before discharge) were increased from 92.7% 67.9%,60.7%,51.8% to 98.1%,85.2%,94.4%,90.7%.The awareness rates of patient medication health education (awareness of safe medication, awareness of self-management, awareness of follow-up knowledge) were all increased to 100% from 75.0%,57.1%,82.1% before participation.Conclusion Clinical pharmacists who carried out pharmaceutical care,has played a critical role in quality control of AMI single disease through the preparing of CCPC-AMI evaluation.

Objective Polyinosinic-polycytidylic acid (poly IC) plays an important role in the central nervous system damage and repair.This study was to investigate the effect of poly IC on inflammatory response after spinal cord ischemia-reperfusion injury (SCIRI) in rats.Methods A total of 72 healthy adult male SD rats were equally randomized into a sham-operation, an ischemia-reperfusion (IR), and a poly IC group.The abdominal cavities of the rats were cut open and closed again in the sham-operation group and SCIRI models were established in the IR and poly IC groups by clamping the abdominal aorta, followed by reperfusion 60 minutes later and intraperitoneal injection of saline (0.1 mL) and poly IC (1.25 μg/g), respectively.At 6, 24, and 48 hours after modeling, BBB scores were obtained and the contents of TNFα, IL-1β and IFN-β were measured by ELISA.At 48 hours, the expressions of NF-κB and IL-10 were determined by immunohistochemistry, the area of ischemic necrosis in the spinal cord tissue was calculated by TTC staining, and its morphological changes were observed under the optical microscope.Results At 48 hours after modeling, the BBB scores were significantly lower in the IR and poly IC groups than in the sham-operation group (3.80±0.75 and 9.40±0.49 vs 20.00±0.00, P<0.01), though higher in the poly IC than in the IR group (P<0.01).The rats of the IR group showed extensive degenerated neurons in the gray substance of the spinal cord, with scattered foci of bleeding and blood coagulation, while those of the poly IC group exhibited fewer necrotic neurons and basically normal nuclear morphology, though with a few swelling cells.The ischemic necrosis area of the spinal cord tissue was significantly reduced.The expression of NF-κB was decreased while that of IL-10 increased markedly.Compared with the IR group, the poly IC group showed a significant increase in the expression of IFNβ (117.23±6.06 vs 55.65±4.02, P<0.01) and a remarkably decrease in the expressions of TNFα (190.45±4.16 vs 201.82±2.18, P<0.01) and IL-1β (39.27±2.48 vs 50.59±1.47, P<0.01) at 48 hours.Conclusion Poly IC can protect the spinal cord and reduce inflammatory response after spinal cord ischemia-reperfusion injury.