Objective:To investigate the genetic causes of fetuses with abnormal nasal bone development in early pregnancy.Methods:A retrospective study was conducted which involved 422 cases of singleton pregnancies with nasal bone development abnormalities indicated by ultrasound screening at 11 to 13 weeks and 6 days of gestation, who underwent chorionic villus sampling for prenatal diagnosis at the Prenatal Diagnosis and Genetic Center, Maternity & Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to May 2023. All cases underwent chromosomal karyotype analysis and single nucleotide polymorphism array (SNP-array) analysis. Based on whether other abnormal ultrasound indicators were present, the cases were divided into isolated (175 cases) and non-isolated groups (247 cases). The results of invasive prenatal diagnosis, distribution of chromosomal abnormalities, detection of copy number variation (CNV) in fetuses with nasal bone development abnormalities, the relationship between maternal age, number of abnormal ultrasound indicators and chromosomal abnormalities, and pregnancy outcomes were analyzed. Statistical analysis was performed using the Chi-square test (continuity correction Chi-square test or Fisher's exact test). Results:(1) Among the 422 cases, 262 cases (62.1%) showed no abnormalities with both detection techniques; 160 cases had abnormalities, including 145 cases (34.4%) had consistent abnormal results and types of abnormalies with the two techniques; two cases (0.5%) had chromosomal translocations detected by karyotype analysis but not by SNP-array analysis; 13 cases (3.1%) had no abnormalities detected by karyotype analysis but had abnormal SNP-array results. This study's overall detection rate of chromosomal abnormalities was 37.9% (160/422), with an additional detection rate of 4.7% (13/275) using SNP-array technology. (2) Among the 160 cases of chromosomal abnormalities, there were 140 cases of aneuploidy, 18 cases of CNV, and two cases of chromosomal translocation. The overall detection rate of chromosomal abnormalities and the detection of aneuploidy, and pathogenic CNV in the non-isolated group was higher than that in the isolated group [74.3% (130/175) vs. 12.1% (30/247), χ2=168.02; 68.0% (119/175) vs. 8.5% (21/247), χ2=163.56; 5.7% (10/175) vs. 0.8% (2/247), χ2=4.74; all P<0.05]. Eighteen cases of CNV were detected using SNP-array technology, including eight cases in the isolated group and ten cases in the non-isolated group. (3) The age of the 422 pregnant women was (33.1±5.4) years. In both isolated and non-isolated groups, the detection rate of chromosomal abnormalities was higher in women of advanced age (expected delivery age ≥35 years) than those not [isolated group: 20.0% (17/85) vs. 8.6% (14/162), χ2=6.55; non-isolated group: 82.1% (69/84) vs. 65.9% (60/91), χ2=5.92; both P=0.010]; regardless of maternal age, the detection rate of chromosomal abnormalities in the non-isolated group was significantly higher than that in the isolated group ( χ2 were 65.28 and 92.42, respectively, both P<0.001). (4) In the non-isolated group, the detection rates of chromosomal abnormalities were 69.0% (78/113) and 83.9% (52/62) when nasal bone abnormalities were combined with one or more other abnormal ultrasound indicators, respectively. When combined with increased nuchal translucency, the detection rate of fetal chromosomal abnormalities was 73.2% (71/97), higher than the detection rate when combined with other single indicators (7/16) ( χ2=5.57, P=0.020). (5) Among the 262 cases with negative karyotype analysis and SNP-array results, 241 cases (92.0%) resulted in live births, with a gestational age at delivery of 39 weeks (32-41 weeks); 12 cases (4.6%) resulted in induced labor, five cases (1.9%) resulted in miscarriage, and four cases (1.5%) were lost to follow-up. The live birth rate in the isolated group was higher than that in the non-isolated group [86.9% (213/245) vs. 20.2% (35/173), χ2=187.00, P<0.001]. Conclusions:Fetuses with nasal bone developmental abnormalities in early pregnancy have a higher detection rate of chromosomal abnormalities and CNV. Invasive prenatal diagnosis is recommended for cases of nasal bone developmental abnormalities in early pregnancy, whether isolated or non-isolated. When combined with other abnormal indicators, the genetic etiology of the fetus is more complex, and detailed genetic counseling should be provided to the patient.

Objective:To evaluate a transhiatal tunnel flap designed to reconstruct the cardiac functional structure in proximal gastric cancer patients in our center.Methods:A descriptive case study method was used to select the data of 11 patients undergoing surgery for upper gastric cancer from Jan to Jul 2024. After laparoscopic dissection is completed, the esophagus is transected 2 cm from the upper edge of the tumor and the specimen is removed. The distance from the lower edge of the tumor is 5 cm. The cutting width is 4 cm, and the length of sleeve distal stump stomach is 20 cm. A seromuscular flap tunnel was made with a length of 2 cm and a width of 2 cm, 2 cm away from the top of the remnant stomach. The digestive tract was reconstructed using the Overlap hybridization method.Results:The median operation time was 175 (139-285) minutes. The median muscle flap production time and reconstruction time was 10.5 (5.5-21.0) minutes and 15.0 (11.8-33.6) minutes, respectively. The median blood loss is 50 (20-100) ml. The median postoperative hospitalization was 8 (6-25) days. The median tumor size was 2.5 (1.0-4.0) cm, and 31 (15-52) lymph nodes were dissected. The median follow-up after surgery was 3.5 (0.7-6.0) months, and no tumor recurrence or metastasis was found. Postoperative anastomotic leakage (Clavien-Dindo grade Ⅱ) occurred in one case, and there was no perioperative death. The Visick score of the whole group was 1 point in 8 cases and 2 points in 3 cases, and there was no anastomotic stenosis. Reflux esophagitis (Los Angeles classification grade B) was found in 1 case after gastroscopy, and the symptoms were relieved by conservative treatment.Conclusion:The transhiatal tunnel flap arthroplasty method has high surgical safety, low reconstruction difficulty, and an reliable anti-reflux effect.

Objective:To investigate the genetic causes of fetuses with abnormal nasal bone development in early pregnancy.Methods:A retrospective study was conducted which involved 422 cases of singleton pregnancies with nasal bone development abnormalities indicated by ultrasound screening at 11 to 13 weeks and 6 days of gestation, who underwent chorionic villus sampling for prenatal diagnosis at the Prenatal Diagnosis and Genetic Center, Maternity & Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to May 2023. All cases underwent chromosomal karyotype analysis and single nucleotide polymorphism array (SNP-array) analysis. Based on whether other abnormal ultrasound indicators were present, the cases were divided into isolated (175 cases) and non-isolated groups (247 cases). The results of invasive prenatal diagnosis, distribution of chromosomal abnormalities, detection of copy number variation (CNV) in fetuses with nasal bone development abnormalities, the relationship between maternal age, number of abnormal ultrasound indicators and chromosomal abnormalities, and pregnancy outcomes were analyzed. Statistical analysis was performed using the Chi-square test (continuity correction Chi-square test or Fisher's exact test). Results:(1) Among the 422 cases, 262 cases (62.1%) showed no abnormalities with both detection techniques; 160 cases had abnormalities, including 145 cases (34.4%) had consistent abnormal results and types of abnormalies with the two techniques; two cases (0.5%) had chromosomal translocations detected by karyotype analysis but not by SNP-array analysis; 13 cases (3.1%) had no abnormalities detected by karyotype analysis but had abnormal SNP-array results. This study's overall detection rate of chromosomal abnormalities was 37.9% (160/422), with an additional detection rate of 4.7% (13/275) using SNP-array technology. (2) Among the 160 cases of chromosomal abnormalities, there were 140 cases of aneuploidy, 18 cases of CNV, and two cases of chromosomal translocation. The overall detection rate of chromosomal abnormalities and the detection of aneuploidy, and pathogenic CNV in the non-isolated group was higher than that in the isolated group [74.3% (130/175) vs. 12.1% (30/247), χ2=168.02; 68.0% (119/175) vs. 8.5% (21/247), χ2=163.56; 5.7% (10/175) vs. 0.8% (2/247), χ2=4.74; all P<0.05]. Eighteen cases of CNV were detected using SNP-array technology, including eight cases in the isolated group and ten cases in the non-isolated group. (3) The age of the 422 pregnant women was (33.1±5.4) years. In both isolated and non-isolated groups, the detection rate of chromosomal abnormalities was higher in women of advanced age (expected delivery age ≥35 years) than those not [isolated group: 20.0% (17/85) vs. 8.6% (14/162), χ2=6.55; non-isolated group: 82.1% (69/84) vs. 65.9% (60/91), χ2=5.92; both P=0.010]; regardless of maternal age, the detection rate of chromosomal abnormalities in the non-isolated group was significantly higher than that in the isolated group ( χ2 were 65.28 and 92.42, respectively, both P<0.001). (4) In the non-isolated group, the detection rates of chromosomal abnormalities were 69.0% (78/113) and 83.9% (52/62) when nasal bone abnormalities were combined with one or more other abnormal ultrasound indicators, respectively. When combined with increased nuchal translucency, the detection rate of fetal chromosomal abnormalities was 73.2% (71/97), higher than the detection rate when combined with other single indicators (7/16) ( χ2=5.57, P=0.020). (5) Among the 262 cases with negative karyotype analysis and SNP-array results, 241 cases (92.0%) resulted in live births, with a gestational age at delivery of 39 weeks (32-41 weeks); 12 cases (4.6%) resulted in induced labor, five cases (1.9%) resulted in miscarriage, and four cases (1.5%) were lost to follow-up. The live birth rate in the isolated group was higher than that in the non-isolated group [86.9% (213/245) vs. 20.2% (35/173), χ2=187.00, P<0.001]. Conclusions:Fetuses with nasal bone developmental abnormalities in early pregnancy have a higher detection rate of chromosomal abnormalities and CNV. Invasive prenatal diagnosis is recommended for cases of nasal bone developmental abnormalities in early pregnancy, whether isolated or non-isolated. When combined with other abnormal indicators, the genetic etiology of the fetus is more complex, and detailed genetic counseling should be provided to the patient.

Objective:To evaluate a transhiatal tunnel flap designed to reconstruct the cardiac functional structure in proximal gastric cancer patients in our center.Methods:A descriptive case study method was used to select the data of 11 patients undergoing surgery for upper gastric cancer from Jan to Jul 2024. After laparoscopic dissection is completed, the esophagus is transected 2 cm from the upper edge of the tumor and the specimen is removed. The distance from the lower edge of the tumor is 5 cm. The cutting width is 4 cm, and the length of sleeve distal stump stomach is 20 cm. A seromuscular flap tunnel was made with a length of 2 cm and a width of 2 cm, 2 cm away from the top of the remnant stomach. The digestive tract was reconstructed using the Overlap hybridization method.Results:The median operation time was 175 (139-285) minutes. The median muscle flap production time and reconstruction time was 10.5 (5.5-21.0) minutes and 15.0 (11.8-33.6) minutes, respectively. The median blood loss is 50 (20-100) ml. The median postoperative hospitalization was 8 (6-25) days. The median tumor size was 2.5 (1.0-4.0) cm, and 31 (15-52) lymph nodes were dissected. The median follow-up after surgery was 3.5 (0.7-6.0) months, and no tumor recurrence or metastasis was found. Postoperative anastomotic leakage (Clavien-Dindo grade Ⅱ) occurred in one case, and there was no perioperative death. The Visick score of the whole group was 1 point in 8 cases and 2 points in 3 cases, and there was no anastomotic stenosis. Reflux esophagitis (Los Angeles classification grade B) was found in 1 case after gastroscopy, and the symptoms were relieved by conservative treatment.Conclusion:The transhiatal tunnel flap arthroplasty method has high surgical safety, low reconstruction difficulty, and an reliable anti-reflux effect.

Gastric cancer is a prevalent malignancy of the digestive system, and traditional laparoscopic radical gastrectomy remains a crucial treatment modality. However, the abdominal wound associated with specimen removal during this procedure conflicts with contemporary concept of minimally invasive surgery. Natural orifice specimen extraction surgery (NOSES) is an emerging minimally invasive surgical technique that has gained increasing utilization in patients with gastrointestinal tumors, owing to its benefits of reduced wound, accelerated postoperative recovery, and diminished postoperative pain. In recent years, the extensive application of NOSES technology for colorectal cancer in China has provided theoretical support for the minimally invasive treatment of gastric cancer. With the standardization of community health examinations in China, the incidence of early gastric cancer diagnoses is expected to rise, making NOSES surgery the likely future trend in the surgical treatment for early gastric cancer. However, this area remains under-explored both domestically and internationally. This paper aims to synthesize prior literature and review the historical development, current research status, advantages and disadvantages, technical challenges, and future directions of completely laparoscopic radical treatment of distal gastric cancer utilizing NOSES.

Gastric cancer is a prevalent malignancy of the digestive system, and traditional laparoscopic radical gastrectomy remains a crucial treatment modality. However, the abdominal wound associated with specimen removal during this procedure conflicts with contemporary concept of minimally invasive surgery. Natural orifice specimen extraction surgery (NOSES) is an emerging minimally invasive surgical technique that has gained increasing utilization in patients with gastrointestinal tumors, owing to its benefits of reduced wound, accelerated postoperative recovery, and diminished postoperative pain. In recent years, the extensive application of NOSES technology for colorectal cancer in China has provided theoretical support for the minimally invasive treatment of gastric cancer. With the standardization of community health examinations in China, the incidence of early gastric cancer diagnoses is expected to rise, making NOSES surgery the likely future trend in the surgical treatment for early gastric cancer. However, this area remains under-explored both domestically and internationally. This paper aims to synthesize prior literature and review the historical development, current research status, advantages and disadvantages, technical challenges, and future directions of completely laparoscopic radical treatment of distal gastric cancer utilizing NOSES.

Objective:To evaluate the safety and feasibility of the laparoscopic indocyanine green (ICG) fluorescence imaging during the sentinel node navigational surgery for the early gastric cancer.Methods:Patients with <4 cm early gastric cancer were chosen. 0.5 ml ICG (2.5 mg/ml) was preoperatively injected into submucosa around the lesion in four points by the endoscopy. The sentinel lymph node basin including the stained tissue and lymph node (LN) were completely resected guided by the fluorescence mapping under ICG laparoscopy. The specimen was inspected by frozen pathology section. The radical gastrectomy was dependent on the pathology result.Result:Between 2019 and 2021, a total of 18 patients were included in the final analysis. Most tumors (16/18) located in the middle or distal stomach. Median tumor size was 2.0 cm. Lymph vessel invasion was revealed in five cases and perineural invasion in three cases. According to AJCC tumor grading system, tumor depth was classified as Tis in 2 cases, T1a in 5 cases and T1b in 11 cases. Lymph node metastasis (LNM) was revealed in four patients (4/18, 22%). Median sentinel lymph node basins per patient were 2 (range, 1-5). An average 6 (range, 2-13) LNs were harvested in each case, including 6 (1-13) ICG stained LNs and 1 (0-5) non stained LNs. All of four LNM patients were detected by sentinel node navigational surgery. The rate of the sensitivity and accuracy were 100% and 100%, respectively. The median follow-up for the entire group was 58.3 months (0.3-59.9 months), with no recurrence or metastasis observed in any patient.Conclusion:The sensitivity and accuracy of the laparoscopic indocyanine green fluorescence imaging during the sentinel node navigational surgery were satisfactory.

Objective:To explore long-term outcome and risk factors of recurrence in stage Ⅲ gastric cancer patients who underwent radical gastrectomy and adjuvant chemotherapy.Methods:The clinical and pathological data of patients with stage Ⅲ (AJCC V8) gastric adenocarcinoma were analyzed retrospectively. All patients received radical gastrectomy and adjuvant chemotherapy consisting of oxaliplatin, fluoropyrimidines with or without docetaxel in our center during 2006 and 2011.Results:A total of 324 patients were enrolled into the study. With a median follow-up time of 108 months, 175 (54%) patients developed tumor recurrence. One hundred and eighty-three (56.5%) patients died, including 169 (52.2%) dying of gastric cancer recurrence. The median disease-free survival (DFS) was 35 months, and the median overall survival (OS) was 64 months. The 5-year OS rates were 58.2%, 51.5% and 25.6% in patients with stage ⅢA, ⅢB and ⅢC diseases, respectively ( P<0.01). Multivariate analysis revealed that T4b cancers ( P=0.02), higher lymph meta node ratio (LNR) ( P<0.01) and perineural invasion ( P=0.01) were independent negative prognostic factors, while more than 12 weeks of adjuvant chemotherapy may improve survival. Higher LNR was correlated with locoregional ( P<0.01), distant lymph node metastases ( P<0.01), and peritoneal metastases ( P=0.038). Perineural invasion ( P=0.047) was prone to peritoneal metastases. More than 12 weeks of adjuvant chemotherapy could reduce the risk of haematogenous metastases ( P=0.023). Conclusions:Outcomes were significantly different in subgroups of patients with stage Ⅲ gastric cancers after radical gastrectomy. Higher LNR and perineural invasion could predict poor prognosis and different recurrence patterns.

Objective:To evaluate the safety and preliminary efficacy of total neoadjuvant therapy (TNT) model of" neoadjuvant chemoradiotherapy plus consolidation neoadjuvant chemotherapy (CNCT) followed by surgery" for locally advanced gastric cancer.Methods:From 2018 to 2020, 28 patients clinically diagnosed with locally advanced gastric adenocarcinoma or Siewert Ⅱ/Ⅲ adenocarcinoma gastroesophageal junction cancer were prospectively enrolled. The neoadjuvant chemoradiotherapy (NCRT) was delivered with a total dose of 45 Gy, 1.8 Gy/f. Concurrent chemotherapy was S-1 at a dose of 40-60 mg twice daily. Then, patients received four to six cycles of CNCT of SOX regimen at three weeks after neoadjuvant chemoradiotherapy. D 2 lymphadenectomy was performed at 4-6 weeks after CNCT. Results:A total of 28 patients completed the whole therapy. Grade 3 or above adverse events occurred in 3 cases (11%) during CCRT, including thrombocytopenia, leukopenia and anorexia; 2 cases (7%) developed leukopenia and 3 cases (11%) of thrombocytopenia during CNCT. Twenty patients (71%) completed the surgery. The proportion of patients with pathological complete remission (pCR) was 50%. Three patients experienced surgical complications including anastomotic leak, anastomotic stenosis and intra-abdominal sepsis. All were recovered after symptomatic treatment.Conclusion:Interim analysis results demonstrate that TNT can yield significant down-staging for patients with locally advanced gastric cancer, which causes tolerable adverse events and postoperative complications.

Objective:To investigate the application value of mesocolon approach in transanal total mesorectal excision (TaTME).Methods:The retrospective cohort study was conducted. The clinicopathological data of 61 patients with middle or low rectal cancer who were admitted to the Nanchong Central Hospital of North Sichuan Medical College from January to December in 2018 were collected. There were 41 males and 20 females, aged from 43 to 81 years, with an average age of 62 years. Of the 61 patients, 30 patients undergoing TaTME with the conventional approach were allocated into traditional approach group, and 31 patients undergoing TaTME with mesocolon approach were allocated into mesocolon approach group. Observation indicators: (1) surgical situations; (2) postoperative recovery; (3) follow-up. Follow-up was conducted by outpatient examination and telephone interview once every 3 months to detect local recurrence and metastasis of tumors in patients up to June 2019. Measurement data with normal distribution were expressed as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were expressed as M (range), and comparison between groups was conducted using the Mann-Whitney U test. Count data were expressed as absolute numbers or percentages, and comparison between groups were analyzed using the chi-square test or Fisher exact probability. Comparison of ordinal data between groups was analyzed using the Mann-Whitney U test. Results:(1) Surgical situations: patients in the two groups underwent TaTME successfully, without conversion to laparotomy. The transabdominal operation time, volume of intraoperative blood loss, length of distal margin from surgical specimen, length of proximal margin from surgical specimen, cases with complete mesentery or with nearly complete mesentery ( the integrity of mesentery ), positive rate of circumferential margin, positive rate of distal margin, and the number of lymph node dissected of the traditional approach group were (126±56)minutes, 41.0 mL (range, 17.5-71.4 mL), 1.3 cm (range, 0.8-2.0 cm), (10.0±5.0)cm, 10, 20, 3.3%(1/30), 0, 13.7 (range, 9.0-17.0), respectively, versus (101±30)minutes, 44.0 mL (range, 25.0-67.5 mL), 1.6 cm (range, 1.1-2.2 cm), (12.0±3.0)cm, 23, 8, 6.5%(2/31), 0, 13.0 (range, 10.9-17.3) of the mesocolon approach group. There were significant differences in the transabdominal operation time, length of proximal margin from surgical specimen, and the integrity of mesentery between the two groups ( t=2.133, -2.286, χ2=10.250, P<0.05). There was no significant difference in the volume of intraoperative blood loss, length of distal margin from surgical specimen, or the number of lymph node dissected between the two groups ( Z=-0.662, -1.107, 0.304, P>0.05). There was also no significant difference in the positive rate of circumferential margin or positive rate of distal margin between the two groups ( P>0.05). (2) Postoperative recovery: the time to first anal flatus of the traditional approach group was 51 hours (range, 48-64 hours). There were 3 patients with complications in the traditional approach group. One patient in the traditional approach group had postoperative anastomotic fistula of Clavien-Dindo classification Ⅱ, and was cured after conservative treatment including sufficient drainage, parenteral nutrition and anti-infective treatment. One patient had chylous fistula of Clavien-Dindo classification Ⅱ, and was cured after conservative treatment. One patient had pulmonary infection of Clavien-Dindo classification Ⅳa, and was cured after treatment in ICU. The duration of postoperative hospital stay of the traditional approach group was (11.3±4.5)days. The time to first anal flatus of the mesocolon approach group was 59 hours (range, 49-70 hours). One patient in the mesocolon approach group had paralytic ileus of Clavien-Dindo classification Ⅰ, and was cured after conservative treatment. The duration of postoperative hospital stay of the mesocolon approach group was (9.6±1.8)days. There was no significant difference in the time to first anal flatus or duration of postoperative hospital stay between the two groups ( Z=-0.554, t=1.884, P>0.05). There was no significant difference in the complications between the two groups ( P>0.05). (3) Follow-up: 61 patients were followed up for 6-18 months, with a median time of 12 months. There was no local recurrence or metastasis of tumors in patients during the follow-up. Conclusion:The mesocolon approach is safe and feasible in TaTME, which abides by the principle of radical resection, and can decrease the difficulty of mesocolon excision, shorten the time of transabdominal operation, increase the length of proximal margin from tumor specimen, improve the integrity of mesentery.