Operative techniques and application in treating rectourethral fistula with transanal minimally invasive surgery / 国际外科学杂志

Rectourethral fistula (RUF) is a kind of intractable disease with special anatomical site, complex condition, and even serious infection. The common causes are iatrogenic trauma after radical prostatectomy, pelvic trauma and injury after local radiotherapy. At present, surgical approaches for RUF include transperineal approach, transsphincter approach, transabdominal approach and transanal approach.Traditional surgical treatment has the limitations of large trauma, high incidence of complications and slow recovery. Transanal minimally invasive surgery (TAMIS) for RUF has the characteristics of simple operation, small trauma and quick recovery. The purpose of this paper is to introduce the methods and experience of RUF treatment with TAMIS.

Current status and thoughts of transanal total mesorectal excision for rectal cancer / 肿瘤

Transanl total mesorectal excision(taTME)combines a series of concepts such as total mesorectal excision(TME),natural orifice transluminal endoscopic surgery(NOTES),single-incision laparoscopic surgery(SILS)and transanal minimally invasive surgery(TAMIS).It has been 1 2 years since its birth,and it has become one of the highlights in colorectal surgery in the recent decade.Its advantages and disadvantages seem so eye-catching,accompanied by controversy while developing.At present,many surgeons in China have performed the taTME operation.Whether it is experimentation or routine,whether it will be popular or outdated in the future,in addition to non-stop surgery,we should also timely reflect.When we have the high-level expected evidence of safety and oncological results,and establish the quality control standards,taTME will move forward with us.And it will play its role in the treatment of middle and low rectal cancer.Unexpected taTME approach also provides us with a new option to ensure surgical safety.

Report content and prenatal diagnosis of non-invasive prenatal testing for sex chromosome aneuploidy / 中华妇产科杂志

Objective: To analyze the report content, the methods and results of prenatal diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive prenatal testing (NIPT). Methods: A total of 227 single pregnancy pregnant women who received genetic counseling and invasive prenatal diagnosis at Drum Tower Hospital Affiliated to the Medical School of Nanjing University from January 2015 to April 2022 due to the high risk of SCA suggested by NIPT were collected. The methods and results of prenatal diagnosis were retrospectively analyzed, and the results of chromosome karyotype analysis and chromosome microarray analysis (CMA) were compared. The relationship between NIPT screening and invasive prenatal diagnosis was analyzed. Results: (1) Prenatal diagnosis methods for 277 SCA high risk pregnant women included 73 cases of karyotyping, 41 cases of CMA and 163 cases of karyotyping combined with CMA, of which one case conducted amniocentesis secondly for further fluorescence in situ hybridization (FISH) testing. Results of invasive prenatal diagnosis were normal in 166 cases (59.9%, 166/277), and the abnormal results including one case of 45,X (0.4%, 1/277), 18 cases of 47,XXX (6.5%, 18/277), 36 cases of 47,XXY (13.0%, 36/277), 20 cases of 47,XYY (7.2%, 20/277), 1 case of 48,XXXX (0.4%, 1/277), 20 cases of mosaic SCA (7.2%, 20/277), 5 cases of sex chromosome structural abnormality or large segment abnormality (1.8%, 5/277), and 10 cases of other abnormalities [3.6%, 10/277; including 9 cases of copy number variation (CNV) and 1 case of balanced translocation]. Positive predictive value (PPV) for SCA screening by NIPT was 34.7% (96/277). (2) Among the 163 cases tested by karyotyping combined with CMA, 11 cases (6.7%, 11/163) showed inconsistent results by both methods, including 5 cases of mosaic SCA, 1 case of additional balanced translocation detected by karyotyping and 5 cases of additional CNV detected by CMA. (3) NIPT screening reports included 149 cases of "sex chromosome aneuploidy"(53.8%, 149/277), 54 cases of "number of sex chromosome increased" (19.5%, 54/277), and 74 cases of "number of sex chromosome or X chromosome decreased" (26.7%, 74/277). The PPV of "number of sex chromosome increased" and "number of sex chromosome or X chromosome decreased" were 72.2% (39/54) and 18.9% (14/74), respectively, and the difference was statistically significant (χ2=34.56, P<0.01). Conclusions: NIPT could be served as an important prenatal screening technique of SCA, especially for trisomy and mosaicism, but the PPV is comparatively low. More information of NIPT such as the specific SCA or maternal SCA might help improving the confidence of genetic counseling and thus guide clinic management. Multi technology platforms including karyotyping, CMA and FISH could be considered in the diagnosis of high risk of SCA by NIPT.

Ultrasensitive proteomics depicted an in-depth landscape for the very early stage of mouse maternal-to-zygotic transition / 药物分析学报

Single-cell or low-input multi-omics techniques have revolutionized the study of pre-implantation embryo development.However,the single-cell or low-input proteomic research in this field is rela-tively underdeveloped because of the higher threshold of the starting material for mammalian embryo samples and the lack of hypersensitive proteome technology.In this study,a comprehensive solution of ultrasensitive proteome technology(CS-UPT)was developed for single-cell or low-input mouse oocyte/embryo samples.The deep coverage and high-throughput routes significantly reduced the starting material and were selected by investigators based on their demands.Using the deep coverage route,we provided the first large-scale snapshot of the very early stage of mouse maternal-to-zygotic transition,including almost 5,500 protein groups from 20 mouse oocytes or zygotes for each sample.Moreover,significant protein regulatory networks centered on transcription factors and kinases between the MII oocyte and 1-cell embryo provided rich insights into minor zygotic genome activation.

Significance of paying attention to extramural vascular invasion before operation for rectal cancer / 国际外科学杂志

Rectal cancer is one of the most common malignant tumors of digestive system. Accurate preoperative diagnosis plays an important role in surgeons′ decision on treatment plan. Extramural venous invasion (EMVI), as an important prognostic factor for predicting lymph node metastasis, distant metastasis and overall survival time of rectal cancer, has been paid more attention in recent years. It may even be used as a new staging system for guiding clinical treatment and formulate accurate preoperative staging. Preoperative MRI(mrEMVI) and postoperative pathology (pEMVI) is equal in the accuracy of assessment of EMVI. mrEMVI can be used as an important item for preoperative multi disciplinary team or clinicians to evaluate the patient stage and formulate individual treatment plan, and can also be used as an important evaluation for whether to perform surgery after preoperative chemoradiotherapy (CRT) and whether to prolong postoperative chemoradiotherapy time. EMVI should be taken as one of the necessary preoperative examinations for all the rectal cancer patients.

Clinical observation on filiform-fire needling of "Biaoben acupoint combination" for 33 cases of sequelae of coronavirus disease 2019 during recovery period / 中国针灸

OBJECTIVE@#To observe the clinical therapeutic effect of filiform-fire needling of "Biaoben acupoint combination" on the sequelae of patients with coronavirus disease 2019 (COVID-19) during the recovery period.@*METHODS@#A total of 33 patients with COVID-19 during the recovery period were treated with filiform-fire needling at the acupoints of Mingmen (GV 4), Shenzhu (GV 12), Gaohuang (BL 43), Zusanli (ST 36) and Shangjuxu (ST 37), etc., once every other day, 3 times a week, and 3 times was one course of treatment and totally 2 courses of treatment were required. The TCM symptom, Hamilton anxiety scale (HAMA) and Hamilton depression scale (HAMD) scores, pulmonary function indexes (forced vital capacity [FVC], forced expiratory volume in one second [FEV1], peak expiratory flow [PEF]) and chest CT imaging change were observed before and after treatment, and the therapeutic effect was evaluated.@*RESULTS@#After treatment, the scores of TCM symptom, HAMA and HAMD were decreased compared with those before treatment (P<0.05), and the levels of FVC, FEV1 and PEF were increased compared with those before treatment (P<0.05), and the recovery rate of 22 patients with pulmonary ventilation dysfunction was 86.4% (19/22). After treatment, the lung shadow area was smaller than that before treatment (P<0.05). The effective rate of 25 patients with lung CT abnormalities was 84.0% (21/25). After treatment, 23 cases were cured, 5 cases were markedly effective, 4 cases were effective, 1 case was ineffective, the cured and markedly effective rate was 84.8%.@*CONCLUSION@#The filiform-fire needling of "Biaoben acupoint combination" could significantly reduce the sequelae of cough, fatigue, chest tightness, etc. and mental symptoms such as anxiety and depression in patients with COVID-19 during the recovery period, and promote inflammatory exudation absorption of pulmonary lesion and improve lung ventilation function.

Clinical Efficacy of Modified Sanxiaoyin in Treatment of Mild or Moderate COVID-19 Patients： Based on Retrospective Analysis / 中国实验方剂学杂志

ObjectiveTo retrospectively analyze the clinical data of 52 patients with coronavirus disease-2019 （COVID-19） and explore the clinical efficacy of modified Sanxiaoyin on mild/moderate COVID-19 patients. MethodThe propensity score matching method was used to collect the clinical data of mild or moderate COVID-19 patients enrolled in the designated hospital of the Second Hospital of Jingzhou from December 2019 to May 2020. A total of 26 eligible patients who were treated with modified Sanxiaoyin were included in the observation group， and the 26 patients treated with conventional method were the regarded as the control. The disappearance of clinical symptoms， disappearance time of main symptoms， efficacy on traditional Chinese medicine （TCM） symptoms， hospitalization duration， laboratory test indicators， and CT imaging changes in the two groups were compared. ResultThe general data in the two groups were insignificantly different and thus they were comparable. After 7 days of treatment， the disappearance rate of fever， cough， fatigue， dry throat， anorexia， poor mental state， and poor sleep quality in the observation group was higher than that in the control group （P<0.05）， and the difference in the disappearance rate of expectoration and chest distress was insignificant. For the cases with the disappearance of symptoms， the main symptoms （fever， cough， fatigue， dry throat， anorexia， chest distress） disappeared earlier in the observation group than in the control group （P<0.01）. After 7 days of treatment， the scores of the TCM symptom scale of both groups decreased （P<0.01）， and the decrease of the observation group was larger that of the control group （P<0.01）. All patients in the two groups were cured and discharged. The average hospitalization duration in the observation group ［（12.79±2.68） d］ was shorter than that in the control group ［（15.27±3.11） d］ （P<0.01）. The effective rate in the observation group （92.31%， 24/26） was higher than that in the control group （76.92%， 20/26） . After 7 days of treatment， the lymphocyte （LYM） count increased （P<0.05）， and white blood cell （WBC） count and neutrophil （NEUT） count decreased insignificantly in the two groups. Moreover， levels of C-reactive protein （CRP）， erythrocyte sedimentation rate （ESR）， and procalcitonin （PCT） reduced in the two groups after treatment （P<0.01） and the reduction in the observation group was larger than that in the control group （P<0.01）. Through 7 days of treatment， the total effective rate on pulmonary shadow in the observation group （90.00%， 18/20） was higher than that in the control group （77.27%， 17/22） （P>0.05） and the improvement of lung shadow in the observation group was better than that in the control group （P<0.01）. ConclusionModified Sanxiaoyin can significantly alleviate fever， cough， fatigue， anorexia， chest distress， poor sleep quality， and other symptoms of patients with mild or moderate COVID-19， improve biochemical indicators， and promote the recovery of lung function. This paper provides clinical evidence for the application of modified Sanxiaoyin in the treatment of mild or moderate COVID-19.

Thumb-tack needles based on "Biaoben acupoint compatibility" for sequela of COVID-19 during recovery period / 中国针灸

OBJECTIVE@#To observe the effect of thumb-tack needles based on "Biaoben acupoint compatibility" on sequela symptoms, mental state and pulmonary ventilation function in patients with coronavirus disease 2019 (COVID-19) during recovery period.@*METHODS@#Fifty cases of COVID-19 during recovery period were randomly divided into an observation group and a control group, 25 cases in each group. The patients in the observation group were treated with thumb-tack needles at Guanyuan (CV 4), Zusanli (ST 36) and Taiyuan (LU 9). The patients in the control group were treated with sham thumb-tack needles at identical acupoints as the observation group. The treatment in the two groups was given once a day, 7-day treatment was taken as a course of treatment, and totally two courses of treatment were given. The TCM symptom score, Hamilton anxiety scale (HAMA) score, Hamilton depression scale (HAMD) score, pulmonary function (forced vital capacity [FVC], forced expiratory volume in the first second [FEV1], peak expiratory flow [PEF]), the severity of pulmonary ventilation dysfunction and pulmonary imaging changes in the two groups were compared before and after treatment.@*RESULTS@#Compared before treatment, the total scores and each item scores of TCM symptom scale, HAMA scores and HAMD scores in the two groups were reduced after treatment (P<0.05). Except for the symptom scores of dry throat and dry stool, the total score and each item score of TCM symptom scale, HAMA score and HAMD score in the observation group were lower than those in the control group (P<0.05). Compared before treatment, FVC, FEV1 and PEF in the two groups were increased after treatment (P<0.05), and those in the observation group were higher than the control group (P<0.05). The severity of pulmonary ventilation dysfunction in the two groups was reduced after treatment (P<0.05), and the severity in the observation group was better than that in the control group (P<0.05). After treatment, the lung shadow area in the two groups was decreased (P<0.05), and that in the observation group was smaller than the control group (P<0.05). The improvement of imaging change in the observation group was better than that in the control group (P<0.05).@*CONCLUSION@#The thumb-tack needles based on "Biaoben acupoint compatibility" could significantly reduce the sequela symptoms, anxiety and depression in patients with COVID-19 during recovery stage, and improve the pulmonary ventilation function.

Management of benign anastomotic stenosis after rectal cancer surgery / 国际外科学杂志

Objective:To discuss the occurrence, treatment and prevention of benign anastomotic stenosis after radical resection for rectal cancer.Methods:The clinical data of 63 patients with benign anastomotic stenosis from Jan. 2016 to Dec.2020 at Department of Gastrointestinal Surgery, Renji Hospital Shanghai Jiaotong University School of Medicine, were retrospectively analyzed, including general conditions, intraoperative conditions, postoperative complications, anastomotic stenosis, treatment process and outcome. The relationship between stenosis type and treatment and outcome were analyzed.The measurement data obeying normal distribution was expressed by ( Mean± SD), and the t test was used comparison between groups. The chi-square test was used comparison between enumeration data. Results:Of all the 63 patients, 22 (34.9%) cases presented with membranous stenosis, 30 (47.6%) cases with tubular stenosis, and 11 (17.5%) cases with diffused stenosis. Three of the 9 patients with high stenosis underwent balloon dilatation through endoscopy, 3 were placed with self-expandable metal stent and the rest 3 patients underwent resection and reconstruction of the anastomosis. All the 54 patients with low stenosis underwent digital anal expansion, and finally the effective rate was 53.7% (29/54). Endoscopic balloon dilatation was successfully performed in 8 cases, including 4 cases were placed metal stent throngh endoscopy. Eight patients underwent trans-anal stricturotomy. In 5 patients with low diffused stenosis, either ileostomy was preserved or permanent colostomy was performed due to failure to treatment. There were more male patients, protective ileostomy, anastomotic leakage and low stenosis in patients failed to treatment than in the cured patients ( P>0.05). However, all the 5 patients who failed to treatment were suffered from diffused stenosis, and the difference was statistically significant compared with those who were cured ( P<0.05). Conclusions:Postoperative anastomotic stricture after anterior rectectomy requires different treatment strategies according to the location and types of stricture. Endoscopic balloon dilatation is preferred for high stenosis, and metal stents can be placed optionally. Digital anal expansion is preferred for low anastomotic stenosis, and endoscopic or minimally invasive transanal surgery is feasible if digital anal expansion fails.

Incidence and risk factors of anastomotic leak after transanal total mesorectal excision in China: a retrospective analysis based on national database / 中华胃肠外科杂志

Objective: Transanal total mesorectal excision (taTME) was a very hot topic in the first few years since its appearance, but now more introspections and controversies on this procedure have emerged. One of the reasons why the Norwegian Ministry of Health stopped taTME was the high incidence of postoperative anastomotic leak. In current study, the incidence and risk factors of anastomotic leak after taTME were analyzed based on the data registered in the Chinese taTME Registry Collaborative (CTRC). Methods: A case-control study was carried out. Between November 15, 2017 and December 31, 2020, clinical data of 1668 patients undergoing taTME procedure registered in the CTRC database from 43 domestic centers were collected retrospectively. After excluding 98 cases without anastomosis and 109 cases without complete postoperative complication data, 1461 patients were finally enrolled for analysis. There were 1036 males (70.9%) and 425 females (29.1%) with mean age of (58.2±15.6) years and mean body mass index of (23.6±3.8) kg/m(2). Anastomotic leak was diagnosed and classified according to the International Study Group of Rectal Cancer (ISREC) criteria. The risk factors associated with postoperative anastomotic leak cases were analyzed. The impact of the cumulative number of taTME surgeries in a single center on the incidence of anastomotic leak was evaluated. As for those centers with the number of taTME surgery ≥ 40 cases, incidence of anastomic leak between 20 cases of taTME surgery in the early and later phases was compared. Results: Of 1461 patients undergoing taTME, 103(7.0%) developed anastomotic leak, including 71 (68.9%) males and 32 (31.1%) females with mean age of (59.0±13.9) years and mean body mass index of (24.5±5.7) kg/m(2). The mean distance between anastomosis site and anal verge was (2.6±1.4) cm. Thirty-nine cases (37.9%) were classified as ISREC grade A, 30 cases (29.1%) as grade B and 34 cases (33.0%) as grade C. Anastomotic leak occurred in 89 cases (7.0%,89/1263) in the laparoscopic taTME group and 14 cases (7.1%, 14/198) in the pure taTME group. Multivariate analysis showed that hand-sewn anastomosis (P=0.004) and the absence of defunctioning stoma (P=0.013) were independently associated with anastomotic leak after taTME. In the 16 centers (37.2%) which performed ≥ 30 taTME surgeries with cumulative number of 1317 taTME surgeries, 86 cases developed anastomotic leak (6.5%, 86/1317). And in the 27 centers which performed less than 30 taTME surgeries with cumulative number of 144 taTME surgeries, 17 cases developed anastomotic leak (11.8%, 17/144). There was significant difference between two kinds of center (χ(2)=5.513, P=0.019). Thirteen centers performed ≥ 40 taTME surgeries. In the early phase (the first 20 cases in each center), 29 cases (11.2%, 29/260) developed anastomotic leak, and in the later phase, 12 cases (4.6%, 12/260) developed anastomotic leak. The difference between the early phase and the later phase was statistically significant (χ(2)=7.652, P=0.006). Conclusion: The incidence of anastomotic leak after taTME may be reduced by using stapler and defunctioning stoma, or by accumulating experience.

Current status and research advances on the use of assisted traction technique in endoscopic full-thickness resection / 中华胃肠外科杂志

Endoscopic full-thickness resection (EFTR) allows completely resecting deep submucosal tumors (SMTs) in the gastrointestinal wall, which has a broad application prospect in clinic. However, its application and promotion are limited by complex surgical procedures and high surgical risk. Various auxiliary traction techniques are expected to reduce the operation difficulty and risk of EFTR and improve its operative success rate. To provide a reference for clinicians, we summarize various auxiliary traction techniques in EFTR in this article. The clip-with-line method is simple to operate and widely used, whereas its traction is limited and there is a risk of clip falling off. The snare traction method and the clip-snare traction method has advantage of large traction force, but its thrust is affected by the hardness of snare. The traction point of the grasping forceps traction method is flexible and easy to adjust. Nevertheless, it requires the use of a dual-channel upper endoscope, which is difficult to operate. The transparent cap traction method and the full-thickness resection device traction method takes a short time and is easy to promote, whereas the resectable lesion is limited, and the size of the lesion may affect the success rate. In contrast, the suture loop needle-T-tag tissue anchors assisted method has a large resection range, but the operation is complicated and the feasibility has not been verified. The robot-assisted method has flexible operation and excellent visualization, whereas it is expensive and difficult to operate. There is no report of the application of magnetic anchor technology in EFTR, but it may have good application prospects in the auxiliary traction of EFTR.

Effect of Zishen-Jianpi-Shengjin Decoction on salivary secretion and quality of life in patients with xerostomia after radiotherapy for head and neck malignant tumors / 国际中医中药杂志

Objective:To observe the effect of Zishen-Jianpi-Shengjin Decoction on salivary secretion and quality of life in patients with xerostomia after radiotherapy for head and neck malignant tumors. Methods:A total of 60 patients with xerostomia after radiotherapy for head and neck malignant tumors were randomly divided into two groups, with 30 in each group. The control group was treated by 0.9% sodium chloride injection, while the observation group was given Zishen-Jianpi-Shengjin Decoction on the first day of radiotherapy on the basis of the control group. Both groups were treated for 8 weeks. The main symptom scores (fatigue, dry throat and mouth, spontaneous sweating and night sweating), salivary secretion function (basic salivary flow rate, salivary pH value) and Karnofsky (KPS) scale scores were recorded before and after treatment. The clinical efficacy of the two groups was compared. Results:The total effective rate was 93.3% (28/30) in the observation group, while 66.7% (20/30) in the control group, and the difference between the two groups was significant ( χ2=7.504, P=0.023). After treatment, the scores of fatigue, dry throat and mouth, sweating and night sweating, pain and swelling in oral mucosa in the observation group were significantly lower than those in the control group ( t values was 4.873, 4.572, 4.419, 4.754, respectively, all Ps<0.05). After treatment, the basic salivary flow rate (0.66 ± 0.06 ml/min vs. 0.53 ± 0.07 ml/min, t=4.532), salivary pH value (6.45 ± 0.25 vs. 5.51 ± 0.23, t=4.382) in the observation group were significantly higher than those of the control group ( P<0.05); The KPS score of the observation group was significantly higher than that of the control group ( t=6.552, P<0.01); The total improvement rate of the observation group was 83.3% (25/30) and that of the control group was 63.3% (19/30), with significant difference between the two groups ( χ2=6.955, P=0.031). Conclusions:The Zishen-Jianpi-Shengjin Decoction can improve salivary secretion function, relieve clinical symptoms and improve the quality of life of patients with xerostomia after radiotherapy for head and neck malignant tumors.

Analysis of influencing factors for anastomotic leakage after transabdominal transanal total mesorectal excision / 中华消化外科杂志

Objective:To investigate the influencing factors for anastomotic leakage after transabdominal transanal total mesorectal excision.Methods:The retrospective case-control study was conducted. The clinicopathological data of 50 patients with rectal cancer who were admitted to the Renji Hospital of Shanghai Jiaotong University School of Medicine from December 2017 to November 2018 were collected. There were 34 males and 16 females, aged (60±11)years, with a range from 31 to 84 years. All the patients underwent transabdominal transanal total mesorectal excision. Observation indicators: (1) anastomotic leakage after transabdominal transanal total mesorectal excision; (2) analysis of influencing factors for anastomotic leakage after transabdominal transanal total mesorectal excision; (3) effects of learning curve on anastomotic leakage after transabdominal transanal total mesorectal excision. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M (range). Count data were described as absolute numbers or percentages. Univariate analysis was conducted using the chi-square test, and multivariate analysis was conducted using the Logistic regression model. Results:(1) Anastomotic leakage after transabdominal transanal total mesorectal excision: of the 50 patients, 9 had postoperative anastomotic leakage, including 6 of grade A anastomotic leakage (2 patients receiving protective enterostomy), 2 of grade B anastomotic leakage, and 1 of grade C anastomotic leakage. Of the 9 patients with anastomotic leakage, there were 5 males and 4 females, aged 62 years (range, 40-75 years). The 9 patients had a body mass index of 27 kg/m 2 (range, 21-31 kg/m 2), and a distance from anastomosis to anal edge of 30 mm (range, 5-40 mm). (2) Analysis of influencing factors for anastomotic leakage after transabdominal transanal total mesorectal excision: results of univariate analysis showed that anastomotic method and protective stoma were related factors for anastomotic leakage after transabdominal transanal total mesorectal excision ( χ2=5.490, 5.456, P<0.05). Results of multivariate analysis showed that anastomotic method and protective stoma were not independent factors for anastomotic leakage after transabdominal transanal total mesorectal excision ( odds ratio=0.062, 0.460, 95% confidence interval: 0.009-1.119, 0.102-2.809, P>0.05). (3) Effects of learning curve on anastomotic leakage after transabdominal transanal total mesorectal excision: with the passing of learning curve and the use of protective stoma, 11 of the first 25 patients of learning cure underwent protective stoma and 6 had postoperative anastomotic leakage, while 20 of the last 25 patients of learning cure underwent protective stoma and 3 had postoperative anastomotic leakage. There was no significant difference in the postoperative anastomotic leakage between them ( χ2=1.220, P>0.05). Conclusion:Anastomotic method and protective stoma are related factors influencing anastomotic leakage after transabdominal transanal total mesorectal excision.

Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of five pedigrees affected with hereditary spastic paraplegia(HSP).@*METHODS@#Clinical data of the five pedigrees was collected, and high-throughput sequencing was carried out to detect potential variants. Sanger sequencing were used to verify the results.@*RESULTS@#The probands of pedigree 1 and 2 were found to harbor heterozygous SPAST gene variants, namely c.1196C>T and c.1523T>A. The proband of pedigree 3 harbored compound heterozygous variants of FA2H gene (c.61G>C and c.688G>A). Proband from pedigree 4 harbored compound heterozygous variants of SPG11 gene (c.6812+4_6812+7delAGTA and c.915delT). The proband of pedigree 5 harbored compound heterozygous variants of SPG7 gene (c.1703_1704delAG and c.1937-1G>C). Based on the American College of Medical Genetics and Genomics(ACMG) guidelines, all variants were predicted to be likely pathogenic. Among these, SPAST gene c.1523T>A, FA2H gene c.61.G>C, SPG11 gene splicing region c.6812+4_6812+7delAGTA, c.915delT, SPG7 gene c.1703_1704delAG and splicing region c.1937-1G>C variants were unreported previously.@*CONCLUSION@#The probands of pedigrees 1 and 2 were diagnosed with autosomal dominant hereditary spastic paraplegia type 4, for which pedigree 2 showed incompletely penetrance. Pedigrees 3, 4, and 5 were diagnosed with autosomal recessive hereditary spastic paraplegia type 35, 11 and 7, respectively. Above result provided a reference for clinical diagnosis and genetic counseling for the affected pedigrees.

Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy / 中华医学遗传学杂志

OBJECTIVE@#The CYP4V2 gene of two pedigrees affected with Bietti crystalline corneoretinal dystrophy was analyzed to indentify the cause of the disease and provide a basis for clinical diagnosis.@*METHODS@#The probands were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. Pathogenicity of the variants were searched through relevant databases and PubMed by following the ACMG guidelines.@*RESULTS@#A homozygous variant in the CYP4V2 gene c. (802-8) _810delTCATACAGGTCATCGCTinsGC was detected in proband from pedigree 1, parents did not detect; CYP4V2 genes c. (802-8)_810delTCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) compound heterozygous variants existed in the proband of pedigree 2,both parents were variant carriers. The results of Sanger sequencing showed that the variant of CYP4V2 gene in the two families was consistent with the NGS sequencing. The c. (802-8)_810delTCATACAGGTCATCGCTinsGC of CYP4V2 gene was splicing variant, and both splicing variant and nonsense variant could produce truncated nonfunctional protein products. Based on standards and guidelines by American College of Medical Genetics and Genomics, the CYP4V2 genes c. (802-8)_810del TCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) were predicted to be pathogenic variants (PVS1+PS1+PM2+PM3).@*CONCLUSION@#The homozygous variant c. (802-8) _810delTCATACAGGTCATCGCTinsGC and the complex heterozygous variants c. (802-8) _810delTCATACAGGTCATCGCTinsGC and c.958C>T (p.Arg320X) in CYP4V2 gene are the cause of the disease in the probands of two pedigrees , respectively.

Factors associated with failure of eradication / 中南大学学报(医学版)

() infection is closely related to chronic active gastritis, peptic ulcer, mucosa-associated lymphoid tissue (MALT) lymphoma, and gastric cancer, and is also associated with some parenteral diseases. Eradication of can significantly improve gastric mucosal inflammatory response, prevent or delay gastric mucosal atrophy, intestinal metaplasia and its development, partially reverse atrophy, and reduce the risk of gastric cancer in varying degrees. In recent years, the eradication failure rate has increased. There are many reasons for the failure of eradication. Previous studies have suggested that resistance to antibiotics is the main cause of eradication failure, but recent studies have found that poor compliance is the main reason.

Study on optimum scheme of thyroid CT plain scan / 实用放射学杂志

Objective To preliminarily investigate the optimum scheme of thyroid CT flat scanning plan,to reduce the artifacts and the radiation dosage.Methods Patients who were involved in this research with thyroid CT flat scanning were divided into three groups:group A (conventional scan group),group B (dosage- reduced group)and group C (a combination of body posture change and dosage reduction).In group A (50 patients),the patients’bilateral arms were naturally drooped on both sides of the body during scanning (scan parameters:120 kV,250 mA).In group B (50 patients),the patients were scanned under the same circumstance with group A,but difference in scanning condition (scan parameters:100 kV,280 mA).In group C (50 patients),the patients kept one arm rise upward,another arm reach firmly toward the contralateral iliac bone during CT scan(scan parameters:100 kV,250 mA).CT attenuations,noise and SNR values around the soft tissue of thyroid gland,which was in the most severe thyroid artifacts (seventh cervical vertebrae to the first thoracic vertebrae level),were measured among the three groups.Meanwhile,the patient’s dose length product (DLP)and effective dosage (ED)were calculated.The images of the three groups were measured by double-blind method,i.e. severe artifacts,moderate artifacts,mild artifacts,and no artifacts.Results The image quality in group C was significantly higher than that of group A and group B (P＜0.05).There was no difference in subj ective quality between group A and group B (P＞0.05).The CT and noise values of group C were better than those of group A and group B (P＜0.05),while the radiation dosage was lower than that of group A and group B (P＜0.05).Conclusion When the thyroid CT scan is performed with the unilateral limb lifting and the other arm extending to the contralateral iliac bone,the thyroid band artifacts can be effectively reduced and decreasing the kV can reduce the radiation dosage.

Tutor evaluation on the scoring criterion for non-technical skills in surgeons / 中华医学教育探索杂志

Objective Non-technical skills (NTS) are necessary to evaluate the comprehensive quality of surgeons.In this study,we proposed the concept of C-NTS,a scoring criterion for NTS based on real scenarios (for example,history taking) and video recording,and verified its practical application effects.Methods Study objects were divided into the tutor group and the student group.The tutor group contained four senior attending physicians in gastrointestinal surgery department of one tertiary hospital (all male with doctor degree).The student group had four rotating surgeons who were randomly selected from the same department in 2018 (two males and two females).Before and after the training,the tutor rated the same anonymous video by C-NTS.One-factor analysis of variance was used to compare the differences between and within the groups,and Kendall concordant coefficient was used to test the consistency by SPSS 22.0.Results After the tutor receiving training,Kendall concordant coefficient was increased from 0.425 to 0.853 and the latter suggested the difference had statistical significance (P=0.017),which confirmed the effectiveness of the training.Conclusion C-NTS has preliminarily solved the difficulty of homogenization of NTS assessment.Relevant C-NTS discussions and trainings for clinical tutors may be beneficial to save time and manpower in clinical teaching and evaluation.

Tutor evaluation on the scoring criterion for non-technical skills in surgeons / 中华医学教育探索杂志

Objective@#Non-technical skills (NTS) are necessary to evaluate the comprehensive quality of surgeons. In this study, we proposed the concept of C-NTS, a scoring criterion for NTS based on real scenarios (for example, history taking) and video recording, and verified its practical application effects.@*Methods@#Study objects were divided into the tutor group and the student group. The tutor group contained four senior attending physicians in gastrointestinal surgery department of one tertiary hospital (all male with doctor degree). The student group had four rotating surgeons who were randomly selected from the same department in 2018 (two males and two females). Before and after the training, the tutor rated the same anonymous video by C-NTS. One-factor analysis of variance was used to compare the differences between and within the groups, and Kendall concordant coefficient was used to test the consistency by SPSS 22.0.@*Results@#After the tutor receiving training, Kendall concordant coefficient was increased from 0.425 to 0.853 and the latter suggested the difference had statistical significance (P=0.017), which confirmed the effectiveness of the training.@*Conclusion@#C-NTS has preliminarily solved the difficulty of homogenization of NTS assessment. Relevant C-NTS discussions and trainings for clinical tutors may be beneficial to save time and manpower in clinical teaching and evaluation.

Development and clinical application of transanal minimally invasive surgery / 国际外科学杂志

Laparoscopic radical resection of rectal cancer is a common practice in the field of colorectal surgery. Ensuring oncologic safety, the occurring practices of transanal endoscopic microsurgery (TEM) and transanal minimally invasive surgery (TAMIS) aims at lowering operation difficulty, optimizing eradication rate, developing economic efficiency and improving post-operative recovery. In recent years, the unique advantages of TAMIS are gradually being recognized. Comparing to TEM, TAMIS has a lower surgery cost, flatter learning curve and fewer post-operative complications, indicating high clinical value. This review will give an introduction of TAMIS from its development, clinical application and prospect.