Objective::To report a fetus with ARCN1-related syndrome caused by a novel de novo heterozygous variant, highlighting the importance of early genetic diagnosis in prenatal care. Methods::The clinical and genetic data of a fetus with a complex combination of clinical signs and a novel de novo heterozygous variant were collected and have been summarized in this study. The potential pathogenic variant was identified throughout the whole exome sequencing and the effects of candidate variants were further validated by a minigene splicing assay. Results::Prenatal systematic ultrasound detected fetal growth restriction. Genetic analysis identified a novel de novo heterozygous variant within the ARCN1 gene—c.1241 +5G>A-located in intron 8. In vitro minigene splicing assays demonstrated that the variant led to two abnormal transcripts. The longer transcript retained 189 base pairs of intron 8, resulting in a truncated protein of 414 amino acids (p.Ser415*). The shorter transcript involved exon 8 skippings, producing a truncated protein of 407 amino acids (p.Ile378Serfs*31). Conclusion::A novel de novo heterozygous variant of the ARCN1 gene, namely NM_001655.5: c.1241 +5G>A, was discovered and identified in a fetus with rhizomelic short stature, microretrognathia, and developmental delays.

Objective::To evaluate the diagnostic efficacy and clinical application of the Obstetrical Chinese Disseminated Intravascular Coagulation (DIC) Scoring System (OCDSS).Methods::This study is a retrospective study that collected 1063 cases from Wuhan Union Hospital, Yichang Central People’s Hospital, and the Central Hospital of Enshi Tujia and Miao Autonomous Prefecture between July 2017 and June 2024. These cases were divided into DIC and non-DIC groups based on score standard. Diagnosis of DIC, the rate of hysterectomy, neonatal mortality, and severe asphyxia are the main outcome measures. All the laboratory indicators are all determined by clinical laboratory department of the hospital. Data were expressed as mean ± standard deviation or median (interquartile range) and frequencies. Independent sample t-test or non-parametric test were used to compare measurement data, while the chi-square test was used for count data. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to test the predictive accuracy. Using univariate and multivariate logistic regression analysis to study the high-risk factors. P < 0.050 indicates a statistical significance. Results::Of 1063 participants in this study, 29 participants (2.73%) were diagnosed with obstetrical DIC by OCDSS score standard, and all the participants were diagnosed as DIC with underlying disease. When the Takao, Clark, and Erez score standard is the "gold standard", the OCDSS score standard always shows good sensitivity and specificity, with all the AUC over 0.75. OCDSS score standard also has better predictive of hysterectomy (68.18%, 91.07%, 0.872), severe neonatal asphyxia and death (79.17%, 75.07%, 0.842) than the other three score standards. All the indicators included in the OCDSS score standard contributed to the DIC diagnosis (all the P < 0.001). The indicators in the DIC group were more abnormal than the non-DIC group (all the P < 0.001). Conclusion::OCDSS is a first score standard, especially for pregnancies, it considers the underlying disease, clinical symptoms, and laboratory results. This score system shared a good diagnosis performance for DIC in the Chinese population and may help clinicians make timely decisions.

Objective::To report a fetus with ARCN1-related syndrome caused by a novel de novo heterozygous variant, highlighting the importance of early genetic diagnosis in prenatal care. Methods::The clinical and genetic data of a fetus with a complex combination of clinical signs and a novel de novo heterozygous variant were collected and have been summarized in this study. The potential pathogenic variant was identified throughout the whole exome sequencing and the effects of candidate variants were further validated by a minigene splicing assay. Results::Prenatal systematic ultrasound detected fetal growth restriction. Genetic analysis identified a novel de novo heterozygous variant within the ARCN1 gene—c.1241 +5G>A-located in intron 8. In vitro minigene splicing assays demonstrated that the variant led to two abnormal transcripts. The longer transcript retained 189 base pairs of intron 8, resulting in a truncated protein of 414 amino acids (p.Ser415*). The shorter transcript involved exon 8 skippings, producing a truncated protein of 407 amino acids (p.Ile378Serfs*31). Conclusion::A novel de novo heterozygous variant of the ARCN1 gene, namely NM_001655.5: c.1241 +5G>A, was discovered and identified in a fetus with rhizomelic short stature, microretrognathia, and developmental delays.

Objective::To evaluate the diagnostic efficacy and clinical application of the Obstetrical Chinese Disseminated Intravascular Coagulation (DIC) Scoring System (OCDSS).Methods::This study is a retrospective study that collected 1063 cases from Wuhan Union Hospital, Yichang Central People’s Hospital, and the Central Hospital of Enshi Tujia and Miao Autonomous Prefecture between July 2017 and June 2024. These cases were divided into DIC and non-DIC groups based on score standard. Diagnosis of DIC, the rate of hysterectomy, neonatal mortality, and severe asphyxia are the main outcome measures. All the laboratory indicators are all determined by clinical laboratory department of the hospital. Data were expressed as mean ± standard deviation or median (interquartile range) and frequencies. Independent sample t-test or non-parametric test were used to compare measurement data, while the chi-square test was used for count data. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to test the predictive accuracy. Using univariate and multivariate logistic regression analysis to study the high-risk factors. P < 0.050 indicates a statistical significance. Results::Of 1063 participants in this study, 29 participants (2.73%) were diagnosed with obstetrical DIC by OCDSS score standard, and all the participants were diagnosed as DIC with underlying disease. When the Takao, Clark, and Erez score standard is the "gold standard", the OCDSS score standard always shows good sensitivity and specificity, with all the AUC over 0.75. OCDSS score standard also has better predictive of hysterectomy (68.18%, 91.07%, 0.872), severe neonatal asphyxia and death (79.17%, 75.07%, 0.842) than the other three score standards. All the indicators included in the OCDSS score standard contributed to the DIC diagnosis (all the P < 0.001). The indicators in the DIC group were more abnormal than the non-DIC group (all the P < 0.001). Conclusion::OCDSS is a first score standard, especially for pregnancies, it considers the underlying disease, clinical symptoms, and laboratory results. This score system shared a good diagnosis performance for DIC in the Chinese population and may help clinicians make timely decisions.

Objective:To compare the safety and efficacy of two-person and three-person operation of endoscopic retrograde cholangiopancreatography (ERCP) after Roux-en-Y anastomosis.Methods:A total of 31 cases of bile duct stones where endoscopic access was successful and papilla was detected after Roux-en-Y anastomosis in Hangzhou First People's Hospital from January 2021 to September 2022 were recruited. Based on the retrospective study, 17 patients with the two-person operation (an operator and an assistant completed selective intubation) were included in group A from January to December 2021, and 14 patients with the three-person operation (an operator and two assistants completed the selective intubation) from January to September 2022 were included in group B. The success rate, the time of intubation, and complication incidence of the two groups were compared.Results:The intubation success rate of all enrolled patients was 90.32% (28/31). There was no significant difference in the intubation success rate between group A and group B [82.35% (14/17) VS 100.00% (14/14), P=0.232]. The intubation time in group B was significantly less than that of group A (42.89±6.57 min VS 61.02±9.23 min) with significant difference ( t=5.77, P<0.001). The incidence of postoperative complication of ERCP in all enrolled patients was 16.13% (5/31). There was no significant difference in the postoperative complication incidence between group A and group B [17.65% (3/17) VS 14.29% (2/14), P=1.000]. Conclusion:For patients undergoing ERCP after Roux-en-Y anastomosis, the two methods were not statistically different in terms of the intubation success rate and the incidence of procedure-related complications. But three-person operation shows clear advantage in terms of operation time.

Objective:To explore the application effect of critical ultrasound combined with extravascular lung water (EVLW) and intrathoracic blood volume (ITBV) on volume management of mechanically ventilated patients.Methods:From May 2017 to January 2020, 98 patients treated with mechanically ventilated admitted to Hebei Petro China Central Hospital were selected and divided into two groups by random number table method, with 49 cases in each group. Both groups were treated with fluid resuscitation, the control group was guided by central venous pressure (CVP) and the observation group was guided by critical ultrasound combined with EVLW and ITBV. The acute physiology and chronic health score Ⅱ(APACHE Ⅱ) and sequential organ failure assessment (SOFA) scores, hemodynamic indexes, respiratory system indexes , urine output and fluid intake at 6 h and 24 h after resuscitation and mechanical ventilation time, ICU stay, complications and prognosis were compared between the two groups.Results:The scores of APACHE Ⅱ and SOFA in the observation group at 6 h and 24 h after resuscitation were lower than those in the control group: 6 h after resuscitation: (22.02 ± 4.29) scores vs. (23.94 ± 3.56) scores, (10.02 ± 3.11) scores vs. (11.64 ± 2.30) scores; 24 h after resuscitation: (19.66 ± 2.85) scores vs. (21.78 ± 3.60) scores, (7.64 ± 2.15) scores vs. (9.83 ± 2.07) scores, the differences were statistically significant ( P<0.05). The mean arterial pressure (MAP) and CVP in the observation group at 6 h and 24 h after resuscitation were higher than those in the control group: 6 h after resuscitation: (69.44 ± 5.25) mmHg(1 mmHg=0.133 kPa) vs. (65.98 ± 4.33) mmHg, (13.64 ± 2.30) mmHg vs. (11.89 ± 3.07) mmHg; 24 h after resuscitation: (72.89 ± 4.69) mmHg vs. (69.26 ± 5.53) mmHg, (13.07 ± 2.15) mmHg vs. (11.89 ± 3.07) mmHg; the heart rate was lower than those in the control group: 6 h after resuscitation: (98.58 ± 9.32) bpm vs. (105.03 ± 8.76) bpm; 24 h after resuscitation: (94.97 ± 8.46) bpm vs.(101.44 ± 7.34) bpm, the differences were statistically significant ( P<0.05). The central venous oxygen saturation (ScvO 2) and oxygenation index (OI) in the observation group at 6 h and 24 h after resuscitation were higher than those in the control group: 6 h after resuscitation: 0.749 ± 0.043 vs. 0.711 ± 0.047, (258.18 ± 20.75) mmHg vs. (234.66 ± 25.42) mmHg; 24 h after resuscitation: (77.68 ± 4.09)% vs. (73.54 ± 4.23)%, (376.29 ± 22.39) mmHg vs. (234.66 ± 25.42) mmHg; the blood lactic acid was lower than that in the control group: 6 h after resuscitation: (3.04 ± 0.52) mmol/L vs. (4.22 ± 0.39) mmol/L; 24 h after resuscitation: (1.01 ± 0.34) mmol/L vs. (1.87 ± 0.41) mmol/L, the differences were statistically significant( P<0.05). The urine output at 6 h and 24 h in the observation group was higher than that in the control group: 6 h after resuscitation: (0.49 ± 0.08) ml/(kg·h) vs. (0.35 ± 0.06) ml/(kg·h); 24 h after resuscitation:(0.54 ± 0.05) ml/(kg·h) vs. (0.42 ± 0.07) ml/(kg·h); the fluid intake was lower than that in the control group: 6 h after resuscitation: (1 230.2 ± 562.3) ml vs. (1 782.4 ± 534.7) ml; 24 h after resuscitation: (3 065.5 ± 521.2) ml vs. (3 642.0 ± 507.8) ml; the mechanical ventilation time, and ICU stay in the observation group were lower than those in the control group: (3.3 ± 0.9) d vs. (5.0 ± 0.7) d, (9.7 ± 2.1) d vs. (10.9 ± 1.8) d, the differences were statistically significant ( P<0.05). There was no significant differences in complication rate and 28-day survival curve between the two groups ( P>0.05). Conclusions:Critical ultrasound combined with EVLW and ITBV has a good application effect on volume management of patients with mechanical ventilation, which can help maintain hemodynamic stability, improve oxygenation status.

Objective:To analyze independent influencing factors of surgical textbook outcome (TO) in patients with gallbladder carcinoma, and to establish a nomogram for predicting TO and evaluated the predictive ability.Methods:Patients with gallbladder carcinoma who underwent surgery in Department of Hepatobiliary and Pancreatic Surgery at Dongfang Hospital Affiliated to Shanghai Tongji University and Department of Biliary Tract Surgery Ⅰ, Third Affiliated Hospital of Naval Medical University (Shanghai Eastern Hepatobiliary Surgery Hospital) from January 2013 to December 2018 were included and the clinical features were retrospectively analyzed. A total of 232 patients were included, including 114 males and 118 females, aged (61.0±9.8) years. According to whether TO reached or not, they were divided into TO group ( n=86) and non-TO group ( n=146). Univariate and multivariate logistic regression were used to analyze the independent influencing factors of TO. The predictive nomogram model of TO was constructed. The receiver operating characteristic (ROC) curve was drawn to evaluate the predictive ability of the model, and the consistency of the predictive model was evaluated by the consistency curve graph and the Hosmer-Lemeshow test. Results:The 1-year and 3-years cumulative survival rates of patients with gallbladder carcinoma in the TO group (86.0% and 62.8%) were better than those in the non-TO group (46.6% and 27.3%), and the difference was statistically significant (χ 2=60.74, P<0.001). In multivariate analysis, higher T stage ( OR=0.16, 95% CI: 0.03-0.79, P<0.001) and cervical gallbladder cancer ( OR=0.14, 95% CI: 0.02-0.94, P=0.004) had the greatest negative association with a TO, and the higher the degree of tumor differentiation ( OR=7.08, 95% CI: 1.34-37.56, P=0.001), the easier it is to achieve TO. The ROC curve showed that the area under the curve of the predictive model was 0.84 (95% CI: 0.79-0.90), suggesting that the model had good predictive performance. A nomogram to assess the probability of TO was developed and had good accuracy in both the consistency curve and Hosmer-Lemeshow test (χ 2=5.77, P=0.673). Conclusion:Tumor T stage, tumor differentiation degree and tumor location are independent influencing factors for achieving TO in patients with gallbladder carcinoma after surgery. The nomogram model constructed according to the above conclusions could accurately predict the probability of reaching TO.

OBJECTIVE：To study t he effects of bro mophenylcurcumin（GL63）on the apoptosis ，migration and invasion of human cholangiocarcinoma RBE cells ，and to investigate its mechanism based on JAK/STAT signaling pathway. METHODS ：MTT assay was used to detect the effects of different concentrations of GL 63 [0（blank control ，similarly hereinafter ），1.25，2.5，5，10， 20，40 μ mol/L] on the proliferation of RBE cells after 48 h treatment ；the IC 50 was calculated. The effects of different concentrations of GL 63（0，5，10，20 μmol/L）on colony formation were detected by crystal violet staining after 48 h treatment. Flow cytometry ，Hoechst 33342 staining，cell scratch test and Transwell chamber invasion test were used to detect the effects of different concentrations of GL 63（0，5，10，20 μmol/L）on cell cycle distribution ，apoptosis，migration and invasion ability after 24 h treatment. Western blotting assay was adopted to detect the effects of different concentration of GL 63（0，5，10，20 μmol/L） on the expression of JAK 2/STAT3 signal pathway associated proteins. RESULTS ：The proliferation inhibition rates of RBE cells in different concentrations of GL 63 groups（1.25-40 μmol/L）were significantly increase d，compared with blank control group （P＜ 0.01），and showed a dose-dependent trend ，with IC 50 of （8.46±1.30）μmol/L. Compared with blank control group， 85917439。E-mail：zhaoji-an-88@163.com inhibition rates of RBE cell colony formation were significantly decreased in different concentrations （5，10，20 μmol/L）of GL 63 groups（P＜0.01）. The percentage of RBE cells at G 0/G1 phase increased significantly ，while that at S phase decreased significantly （P＜0.01）. The apoptotic rate increased significantly（P＜0.01），and the nucleus showed dense pyknosis and apoptotic bodies. The rate of cell migration and healing was significantly decreased （P＜0.01），and the number of invasive cells through basement membrane was significantly decreased （P＜ 0.01）. The protein expression of p-JAK 2， p-STAT3， Bcl-2， MMP-2， MMP-9， Pro-caspase-9 and P ro-caspase-3 were down-regulated significantly while the expression of Bax ，Cyt-c，Cleaved-caspase-9 and Cleaved-caspase- 3 were up-regulated significantly（P＜0.01）. CONCLUSIONS ：GL63 may inhibit the proliferation ，migration and invasion of RBE cells and promote its apoptosis by inhibiting JAK 2/STAT3 signal pathway.

Gallbladder cancer is a high malignancy which is predisposed to invade adjacent organs and have lymph node metastasis. Gallbladder cancer is not sensitive to radiotherapy or chemotherapy with the worst prognosis among biliary tract cancers. At present, radical resection is the only possible method to cure gallbladder cancer. However, there are still many controversies about the surgical strategies, the extent of liver resection and lymph node dissection, and the treatment of incidental gallbladder cancer. In addition, under the background of the great success of immunotherapy and targeted therapy in a variety of solid tumors, it is also a question worthy of further considerations that whether the status of surgery in the treatment of advanced gallbladder cancer will be changed in the near future.

Objective:To evaluate the efficacy and safety of clip-with-endoloop method during endoscopic submucosal dissection (ESD) in treatment of early gastric angle cancer and precancerous lesions.Methods:A total of 59 patients with early gastric angle cancer or precancerous lesions underwent ESD from January 2018 to December 2018 were randomly divided into the routine ESD group ( n=28) and the clip-with-endoloop group ( n=31). The frequency of supplementary submucosal injection, ESD procedure time, area of the resected specimen, dissection time, submucosal dissection speed, complete resection rate and complications were compared between the two groups. Results:The frequency of supplementary submucosal injection in the clip-with-endoloop group was less than that in the routine ESD group (2.3±1.1 VS 3.7±1.4, t=4.557, P<0.001). There was no significant difference in the area of the resected specimen between the two groups (12.7±2.6 cm 2 VS 11.7±2.7 cm 2,t=1.485, P=0.143). The ESD procedure time (72.4±24.7 min VS 93.6±28.9 min, t=3.043, P=0.004) and dissection time (67.7±23.3 min VS 88.2±28.3 min, t=3.054, P=0.003) in the clip-with-endoloop group were significantly shorter compared with those in the routine ESD group. The submucosal dissection speed in the clip-with-endoloop group was higher than that in the routine ESD group (20.2±3.2 mm 2/min VS 14.3±3.4 mm 2/min, t=6.879, P<0.001). The complete resection rate was 100.0% in the both groups. No perforation or postoperative bleeding occurred in the two groups. The incidence of intraoperative bleeding in the clip-with-endoloop group was lower than that in the routine ESD group [19.4% (6/31) VS 35.7% (10/28), χ2=1.992, P=0.158]. Conclusion:Clip-with-endoloop method makes ESD procedures easier and faster, with a lower possibility of intraoperative bleeding in treatment of early gastric angle cancer.