Objective To identify novel mutations in the GATA6 gene associated with congenital atrial septal defects (ASD).Methods This was a case-control study.A cohort of 220 unrelated Han-race patients with congenital ASD and 200 unrelated ethnically matched healthy individuals used as controls,who were admitted to Tongji University Affiliated Tongji Hospital from January,2007 to October,2011,were recruited.The peripheral venous blood samples from the participants were prepared.All the coding exons and their flanking sequences of the GATA6 gene were amplified by polymerase chain reaction and sequenced using the di-deoxynucleotide chain termination technique.The acquired sequences were aligned with the sequences derived from GenBank by BLAST to identify the sequence variations.The software ClustalW was used to analyze the conservation of the altered amino acids.Results Three novel heterozygous missense GATA6 mutations,c.250G ＞A (p.A84T),c.649G ＞C (p.G217R) and c.1270A ＞C (p.S424R),were identified in 3 of 220 ASD patients,respectively.None of the three mutations was detected in 200 healthy control individuals.A cross-species alignment of GATA6 encoded protein sequences showed that the mutated amino acids were relatively conserved evolutionarily.Conclusion The identification of novel GATA6 mutations associated with ASD contributes to the reveal of the mechanism involved in the pathogenesis of ASD.

Pneumonia is a common lower respiratory tract infection, which causes a large disease and economic burden worldwide, and is an important public health problem to be solved urgently. Based on review of publications pertaining to the epidemiology of pneumonia from 2013 to 2023, this article summaries the epidemiological characteristics and main influencing factors of pneumonia. It is found that the epidemiological characteristics of pneumonia vary in different areas; men, the elderly and children are the high-risk groups of pneumonia incidence and mortality; and age, smoking, alcohol consumption, air pollution, comorbidity and vaccination are the main factors affecting the incidence and mortality of pneumonia. Strengthening health education, reducing exposure to risk factors and promoting vaccination are recommended to lower the morbidity and mortality of pneumonia in susceptible populations.

Acute Disease ; Glucocorticoids ; Graft Rejection ; Heart Rate ; Humans ; Hyperglycemic Hyperosmolar Nonketotic Coma ; Liver Transplantation

Objective: To compare the clinical effects of laparoscopic repair and open repair of gastroduodenal ulcer perforation. Methods: Retrospective analysis was performed on 117 patients with perforated gastroduodenal ulcer admitted to Sijing Hospital of Shanghai Songjiang District from October 2005 to February 2018, including 86 males and 31 females. The average age was 35.56 years with a range from 17 to 68 years. Patients were divided into two groups according to different surgical methods: laparoscopic group (n=56) and open group (n=61). Patients in the laparoscopic group were received laparoscopic repair for perforated gastroduodenal ulcer, while patients in the open group received open repair for perforated gastroduodenal ulcer. Comparison of two groups of patients with operation time, intraoperative blood loss, postoperative first anal exhaust time, analgesic utilization rate, length of hospital stay, the body′s inflammatory response [preoperative and 24 h, 72 h, 120 h of postoperative peripheral white blood cell (WBC)], C-reactive protein level (CRP), postoperative complications (postoperative incision infection, incision dehiscence, gastric duodenal fistula, abdominal abscess, adhesion intestinal obstruction and lung infection). Measurement data were expressed as mean±standard deviation (Mean±SD), and t-test was used for comparison between groups; count data were compared by Chi-square test. Results: All the patients in the two groups successfully completed the operation, and there were no cases transferred to laparotomy in the laparoscopic group. Intraoperative blood loss[(15.3±9.5) ml vs (30.5±11.3) ml, P<0.001], time of first anal exhaust[(56.5±9.8) h vs (83.8±15.6) h, P<0.001], analygesic utilization rate (10.71% vs 52.46%, P<0.005), and length of hospital stay [(7.5±1.5) d vs (10.0±3.4) d, P<0.001] of the laparoscopic group were significantly better in the open group, the differences were statistically significant. The WBC and CRP at 24 h, 72 h and 120 h after surgery of the laparoscopic group were also significantly better than in the open group [WBC: 24 h, (14.55±3.44) ×10⁹/L vs (16.02±4.12) ×10⁹/L, P=0.020; 72 h, (10.25±2.32) ×10⁹/L vs (14.22±3.29) ×10⁹/L, P<0.001; 120 h, (8.12±3.11)×10⁹/L vs (11.58±2.33) ×10⁹/L, P<0.001. CRP: 24 h, (50.35±13.73) mg/L vs (80.11±13.56) mg/L, P<0.001; 72 h, (29.37±7.81) mg/L vs (53.57±8.05) mg/L, P<0.001; 120 h, (17.71±7.01) mg/L vs (34.35±7.72) mg/L, P<0.001], the differences were statistically significant. There was no significant difference in operation time and postoperative complications between the two groups (P>0.05). Conclusion Compared with open gastroduodenal ulcer perforation repair, laparoscopic gastroduodenal ulcer perforation repair surgery trauma are smaller, and the body′s inflammatory response are lighter, postoperative complications is no statistical significance, but will look from actual data, the cases of complications is less, is now a better surgical treatment of gastroduodenal ulcer perforation.

Objective: To investigate the expression and clinical significance of lysophosphatidic acid receptor 5 (LPA5) protein in breast cancer tissues. Methods: The specimens of breast cancer tissues and adjacent tissues of 80 breast cancer patients from January 2015 to December 2016 in the First People's Hospital of Yongkang were selected in the study.The expression of LPA5 in breast cancer tissues and adjacent tissues was determined by immunohistochemistry.The clinical case characteristics of patients were collected. Results: The positive expression rate of LPA5 in breast cancer tissues(72.5%) was higher than that in adjacent tissues(8.75%)(χ²=67.394, P<0.05). The positive rate of LPA5 in clinical stage Ⅲ-Ⅳ(91.3%) was higher than that in stage Ⅰ-Ⅱ(64.9%)(χ²=5.725, P<0.05). The positive rate of LPA5 in patients with lymph node metastasis(94.7%) was higher than that in patients without lymph node metastasis(52.4%)(χ²=17.951, P<0.05). The positive rate of LPA5 in patients with intravascular tumor thrombus(92.3%) was higher than that in patients without intravascular tumor thrombus (63.3%)(χ²=7.580, P<0.05). The expression of LPA5 in breast cancer tissues was not related to age and tumor diameter (P>0.05). There were no significant differences in the positive expression rates of LPA5 in the breast cancer tissues among luminal type, human epidermal growth factor receptor 2 (Her2) overexpressing type and triple negative type (P>0.05). The disease-free survival rate(86.3%) and overall survival rate(87.5%) of patients with negative expression of LPA5 in breast cancer tissues were higher than those in breast cancer tissues with positive expression (65.0%, 66.3%)(χ²=4.517, 4.328, all P<0.05). Conclusion LPA5 expression is up-regulated in breast cancer tissues, and LPA5 may be involved in the development and progression of breast cancer, which is closely related to the prognosis of breast cancer.

Objective:To summarize and analyze the current application status of oral mucosal graft (OMG) technique in the repair of ureteral strictures in China, and clarify the feasibility, safety and effectiveness of this technique.Methods:The 175 patients who underwent repair of ureteral stricture using oral mucosal patches from June 2015 to February 2022 were etrospectively analyzed in 14 medical centers in China, including 49 cases in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 32 cases in Affiliated Seventh Medical Center of PLA General Hospital, 3 cases in The Second Hospital of Anhui Medical University, 6 cases in The First Affiliated Hospital of Zhengzhou University, 56 cases in Peking University First Hospital, 3 cases in Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, 3 cases in Shanghai Sixth People' s Hospital, 4 cases in General Hospital of Estern Theater Command, 4 cases in Lanzhou University Second Hospital, 2 cases in Guizhou Province People 's Hospital, 2 cases in Peking University People' s Hospital, 5 cases in Jinzhou First People's Hospital, 5 cases in The First Affiliated Hospital of Wannan Medical College, 1 case in Shandong Provincial Hospital. In this study, 127 patients (72.6%) used lingual mucosal patches, 32(18.3%) labial mucosa, and 16(9.1%) buccal mucosa. The surgical approach for OMG ureteral reconstruction was mainly minimally invasive, with robot-assisted laparoscopy in 84 patients (48.0%), traditional laparoscopic surgery in 87 patients (49.7%), and open surgery in only 4 patients (2.3%). There were 133 males and 42 females with an average age of (35.0±17.2) years. The mean body mass index (BMI) and stenosis length were (23.1±4.1) kg/m 2 and (4.7±1.8) cm, respectively. The stricture was located in the left ureter in 116 patients, right ureter in 58 case and bilateral ureter in 1 case. The most common causes of ureteral stricture were endoscopic surgery in 88(50.3%)patients, congenital stricture in 55(31.4%)patients, failed ureteroplasty in 29(16.6%)patients, history of extracorporeal shock wave lithotripsy in 13(7.4%)patients, radiotherapy history in 3(1.7%)patients and other causes in 6(3.4%)patients. Strictures were mainly located in the upper ureter, accounting for 61.7% (108/175 cases), followed by 36.0% (63/175) at the ureteropelvic junction and 2.3%(4/175)in the middle ureter. According to the surgical methods, the patients were divided into robot-assisted laparoscopic surgery group ( n=84), traditional laparoscopic surgery group ( n=87)and open surgery group ( n=4). Subgroup analysis of patients in robot-assisted laparoscopic and traditional laparoscopic surgery groups was performed. There were no significant difference in preoperative data between the two groups except for age (32.0±18.3) years vs.(37.0±15.9)years, P=0.040], BMI[(22.5±4.3)kg/m 2 vs. (23.7±3.6)kg/m 2, P=0.028], and etiology of stenosis [endoscopic injury, 34(40.5%) vs. 53(60.9%), P=0.012]. Preoperative hydronephrosis and stricture length were assessed by CTU and ureterography. Ureterography 7-9 weeks after surgery showed patency of the reconstructed segment, or no recurrence of hydronephrosis was judged as success. Evaluate the operation method, operation time, success rate, length of OMG in repairing ureteral stricture between laparoscopic and robot-assisted groups. Results:The overall success rate of oral mucosal graft repair surgery reached 97.7%(171/175). The success rate of ureteral reconstruction in the two groups were 96.4%(81/84)and 98.9%(86/87), respectively ( P=0.351), and the difference was not statistically significant. There was no significant difference for operation time, intraoperative blood loss, and mean oral mucosal length between the robotic and laparoscopic groups[(244.7±85.8) min and (222.7±83.5)min ( P=0.116), (58.9±38.6) ml and (68.4±45.5) ml ( P=0.217), (5.0±2.0) cm and (4.6±1.5) cm ( P=0.350)], respectively.Postoperative complications were reported in 23 (13.1%) patients, such as fever, urinary leakage, lymphatic leakage, infection, but only 2 (1.4%) cases patients had complications of Clavien-Dindo score ≥ Ⅲ. The two patients developed urinary stricture after surgery with failed conservative treatment, and no urinary stricture occurred following endoscopic treatment.The short-term (three months after surgery)incidence of complications in the site where the oral mucosa was taken, such as difficulty in opening mouth, pain, and swelling, was 12.0% (21/175), and there was no significant difference for oral complications between patients harvesting different length of mucosal graft. Conclusions:Ureteroplasty with oral mucosal graft is a safe, feasible and reliable technique for ureteral reconstruction. At present, minimally invasive technology is the main surgical approach for ureteroplasty, and there is no significant difference in operation time and success rate between robotic surgery and laparoscopic surgery.

Objective:To establish donor liver quality related risk factors for the loss of function of transplanted liver.Methods:The data of donors and recipients of liver transplantation at the Organ Donation and Transplantation Center of the First Affiliated Hospital of Sun Yat-sen University from Nov 2011 to Dec 2018 were analyzed retrospectively. Propensity score matching (PSM) was performed to evaluate and screen the data of donors and recipients, in order to balance the covariates.Results:Of the organ donation, there were 70 males and 20 females , aging (40.6±16.3) years. Of the liver transplantation recipients, there were 70 males and 20 females , aging (41.8±20.3) years. Liver dysfunction after transplantation was significantly correlated with the following variables: the donor's CPR time( t=0.429, P=0.000), 15-minute retention rate of indocyanine green ( χ2=67.151, P=0.000), liver function grading ( χ2=54.154, P=0.000), bullae fatty liver grading ( χ2=8.120, P=0.017), vesicular fatty liver grading ( χ2=16.000, P=0.001), ICU stay time ( χ2=14.900, P=0.001)and serum creatinine level ( χ2=44.685, P=0.000). The donor scoring system was established in our studying. For the 90 organ donation cases, the donated liver quality were classified into four levels,which were of good correspondence to the prognosis of the recipients. Conclusion:This donor scoring system and grading standards established by analyzing the high-risk factors of liver dysfunction after transplantation helps evaluate the quality of donor liver in China.