Congenital heart diseases (CHDs) seriously affect human health, and genetic mutation is closely related to the occurrence of CHDs. In the process of assisted reproduction, the use of methods such as polar body biopsy, blastomere biopsy and blastocyst biopsy, combined with single-cell DNA amplification and high-throughput sequencing technology, can accurately detect pathogenic mutations associated with single-gene genetic diseases in pre-implantation embryos. T-box transcription factor 5 (TBX5) is an important transcription factor for heart and upper limb development. It is reported 227 TBX5 mutations are related to CHDs. Preimplantation genetic testing for monogenic disease (PGT-M) to detect CHD-related TBX5 mutations in embryos is of great significance for preventing the occurrence of CHDs. In this review, we systematically summarized the TBX5 mutation information, and analyzed the deleterious effects of TBX5 missense mutations based on familial genetic data, animal models, induced pluripotent stem cell disease models and prediction software to provide references for the detection of CHD-related TBX5 mutations using PGT-M.

Congenital heart diseases (CHDs) seriously affect human health, and genetic mutation is closely related to the occurrence of CHDs. In the process of assisted reproduction, the use of methods such as polar body biopsy, blastomere biopsy and blastocyst biopsy, combined with single-cell DNA amplification and high-throughput sequencing technology, can accurately detect pathogenic mutations associated with single-gene genetic diseases in pre-implantation embryos. T-box transcription factor 5 (TBX5) is an important transcription factor for heart and upper limb development. It is reported 227 TBX5 mutations are related to CHDs. Preimplantation genetic testing for monogenic disease (PGT-M) to detect CHD-related TBX5 mutations in embryos is of great significance for preventing the occurrence of CHDs. In this review, we systematically summarized the TBX5 mutation information, and analyzed the deleterious effects of TBX5 missense mutations based on familial genetic data, animal models, induced pluripotent stem cell disease models and prediction software to provide references for the detection of CHD-related TBX5 mutations using PGT-M.

Objective:To investigate the clinical efficacy of da Vinci Xi robotic surgical system assisted pylorus and vagus preserving partial gastrectomy (RaPPG) for early gastric cancer.Methods:The retrospective cohort study was conducted. The clinicopathological data of 40 patients with early gastric cancer who were admitted to the First Affiliated Hospital of Dalian Medical University from December 2020 to November 2022 were collected. There were 26 males and 14 females, aged (64±8)years. Of the 40 patients, 19 patients undergoing da Vinci Xi RaPPG were divided into the robotic assisted group, and 21 patients undergoing laparoscopic assisted pylorus and vagus preserving partial gastrectomy (PPG) were divided into the laparoscopic control group. Observation indicators: (1) surgical situations; (2) postoperative complications; (3) follow-up. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the independent t test. Measurement data with skewed distribution were represented as M( Q1, Q3) or M(range), and comparison between groups was conducted using the Mann-Whitney U test. Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data was conducted using the rank sum test. Results:(1) Surgical situations. All patients in the two groups underwent surgery successfully, without conversion to laparotomy. The operation time, volume of intraoperative blood loss, time to postoperative first flatus, time to postoperative first liquid food intake, time to post-operative drainage tube removal, duration of postoperative hospital stay, tumor diameter, distance from distal resection margin to tumor were (298±52)minutes, 10(10, 10)mL, 3.0(3.0, 3.0)days, 3.0(3.0,4.0)days, 6.0(6.0,8.0)days, 7.0(6.0,8.0)days, (2.3±0.7)cm, 3.0(2.0,3.0)cm in patients of the robotic assisted group, versus (236±37)minutes, 25(15,50)mL, 5.0(4.0,5.0)days, 6.0(5.5,7.0)days, 8.0(8.0,9.5)days, 8.0(7.5,9.5)days, (2.9±1.1)cm ,2.0(1.5,2.0)cm in patients of the laparoscopic control group, showing significant differences in the above indicators between the two groups ( t=4.41, Z=-3.38, -4.75, -4.38, -2.98, -2.58, t=-2.10, Z=-3.03, P<0.05). (2) Postoperative complications. Cases with postoperative complications, cases with delayed gastric emptying, cases with acid regurgita-tion, cases with atelectasis, cases with infection of incision, cases with hyperamylasemia, cases with uroschesis were 6, 1, 1, 0, 1, 3, 0 in patients of the robotic assisted group. The above indicators were 20, 4, 3, 2, 1, 9, 1 in patients of the laparoscopic control group. There was a significant difference in the postoperative complications between the two groups ( χ2=17.77, P<0.05). (3) Follow-up. Of the 40 patients, 34 patients were followed up. There were 16 patients in the robotic assisted group who were followed up for 9(range, 6-18)months, and there were 18 patients in the laparoscopic control group who were followed up for 16(range, 9-23)months. During the follow-up period, all patients had good anastomosis healing, pyloric contraction function, and gastric emptying function. Conclusions:da Vinci Xi RaPPG is safe and feasible for the treatment of early gastric cancer. Compared with laparoscopic assisted PPG, treatment of gastric cancer with da Vinci Xi RaPPG can significantly reduce the volume of intraoperative blood loss, shorten the time to postoperative first flatus, time to postoperative first liquid food intake, time to postoperative drainage tube removal, duration of postoperative hospital stay, benefit the distance from distal resection margin to tumor, and reduce the incidence of postoperative complications.

Objective To summarize the experience on imaging diagnosis and surgical treatment for popliteal artery entrapment syndrome (PAES). Methods From 2004 to 2010, 11 patients (12 limbs) diagnosed as PAES by CTA and MR ( A) underwent surgery. There were 11 patients with a mean age of (28 ±19) years, eight patients were male, three patients were female. Two patients were found to have bilateral involvement. Intermittent claudication was the most frequent presenting symptom. Six limbs were type Ⅰ , three limbs were type Ⅱ , three limbs were type Ⅲ , one limb was type Ⅳ. The preoperative mean ABI was 0.47 ± 0. 27. Results Popliteal artery exploration surgery or peripopliteal artery lysis was performed in 12 limbs, and this procedure was combined with a great saphenous vein bypass graft in seven limb because of arterial occlusion or aneurysm. After a median follow-up of ( 19 ± 20) months (0 month to 6 years) , the mean ABI improved to 0. 81 ±0. 30, which was significantly higher than that of preoperation( P ＜ 0.05),one patient died of pulmonary embolism one day after operation, one patient (one limb) had popliteal artery thrombosis after operation. Intermittent claudication symptoms disappeared in all other patients. Conclusions Timely imaging diagnosis and surgical intervention is very important for patients of PAES.