Objective:Through the investigation of the pathogenicity of COL4A4 heterozygous splicing mutations and the genotype-phenotype correlation in autosomal dominant Alport syndrome (ADAS), to better understand the impact of COL4A4 heterozygous splicing mutations on ADAS. Methods:The study was a case series analysis. Patients from 5 ADAS families with COL4A4 heterozygous splicing mutations detected by whole exome sequencing were recruited by three hospitals. In vivo transcriptional analysis and/or in vitro minigene splicing assay were conducted to determine the splicing patterns and assess the pathogenicity of COL4A4 heterozygous splicing mutations. Results:In the five ADAS pedigrees carrying COL4A4 heterozygous splicing mutations, four novel ADAS splicing patterns were described. In pedigree 1-4, most patients presented with continuous hematuria or/and microalbuminuria. Otherwise,the proband in pedigree 4 presented with macroalbuminuria and the proband in pedigree 1 had progressed to chronic kidney disease stage 2 at the age of 70 years old. In pedigree 5, all patients developed end-stage renal disease between 28 and 41 years old. c.735+3A>G detected in pedigree 1 and pedigree 2 and c.694-1G>C detected in pedigree 3 both led to exon 12 skipping in COL4A4, resulting in 42 nucleotides in-frame deletion (c.694_735del). c.2056+3A>G detected in pedigree 4 led to COL4A4 exon 26 skipping, which caused in-frame deletion of 69 nucleotides (c.1988_2056del). c.2716+5G>T detected in pedigree 5 led to a 360 nucleotides large in-frame deletion, including 100 bp sequence at the 3'end of exon 29,the whole sequence of exon 30 and 89 bp sequence at the 5'end of exon 31 (c.2446_2805del). Conclusions:Renal prognosis differs significantly for patients with small in-frame deletions versus large in-frame deletion splicing abnormalities. Determination of the pathogenicity and the splicing patterns of COL4A4 heterozygous splicing mutations using in vivo and in vitro transcriptional analysis may provide renal prognostic information.

Objective:To investigate the risk factors associated with early postoperative complications (within 30 days) after laparoscopic total proctocolectomy (TPC) plus ileal pouch anal anastomosis (IPAA) for patients with ulcerative colitis (UC) .Methods:Clinical data of UC patients undergoing laparoscopic TPC+IPAA treatment from January 2014 to June 2018 at the Inflammatory Bowel Disease Treatment Center, General Hospital of Eastern Theater Command were retrospectively collected. The patients were grouped according to whether complications occurred within 30 days after the operation. The occurrence of early postoperative complications and associated risk factors were analyzed by univariate and multivariate methods.Results:A total of 132 patients were enrolled, including 70 males and 62 females with median age of 42 (16 to 72) years old. Sixty cases of postoperative complications were found in 41 (31.1%) patients, including pouch bleeding occurred (9 cases, 6.8%) , pouch-associated leakage and abdominal or pelvic infection (10 cases, 7.6%) , small bowel obstruction (13 cases, 9.8%) , postoperative delayed gastric emptying (15 cases, 11.4%) , and operative incision infection and pulmonary infection (13 cases, 9.8%) . Preoperative albumin level <35.0 g/L ( P=0.012) and preoperative glucocorticoids usage ≥ 20 mg/d >6 weeks ( P=0.030) were independent risk factors of early postoperative complications. Conclusions:Laparoscopic TPC+IPAA is a safe and effective method in the treatment of patients with ulcerative colitis. Whenever possible, preoperative optimization including increasing the level of preoperative albumin and weaning off corticosteroids will be beneficial to reduce the above morbidity. A two-stage surgery does not increase the risk of postoperative complications.

Objective:To investigate the risk factors associated with early postoperative complications (within 30 days) after laparoscopic total proctocolectomy (TPC) plus ileal pouch anal anastomosis (IPAA) for patients with ulcerative colitis (UC) .Methods:Clinical data of UC patients undergoing laparoscopic TPC+IPAA treatment from January 2014 to June 2018 at the Inflammatory Bowel Disease Treatment Center, General Hospital of Eastern Theater Command were retrospectively collected. The patients were grouped according to whether complications occurred within 30 days after the operation. The occurrence of early postoperative complications and associated risk factors were analyzed by univariate and multivariate methods.Results:A total of 132 patients were enrolled, including 70 males and 62 females with median age of 42 (16 to 72) years old. Sixty cases of postoperative complications were found in 41 (31.1%) patients, including pouch bleeding occurred (9 cases, 6.8%) , pouch-associated leakage and abdominal or pelvic infection (10 cases, 7.6%) , small bowel obstruction (13 cases, 9.8%) , postoperative delayed gastric emptying (15 cases, 11.4%) , and operative incision infection and pulmonary infection (13 cases, 9.8%) . Preoperative albumin level <35.0 g/L ( P=0.012) and preoperative glucocorticoids usage ≥ 20 mg/d >6 weeks ( P=0.030) were independent risk factors of early postoperative complications. Conclusions:Laparoscopic TPC+IPAA is a safe and effective method in the treatment of patients with ulcerative colitis. Whenever possible, preoperative optimization including increasing the level of preoperative albumin and weaning off corticosteroids will be beneficial to reduce the above morbidity. A two-stage surgery does not increase the risk of postoperative complications.

Objective: To explore the function of multimedia teaching in rural doctor CPR training, to discuss the training methods for how to improve the CPR training in rural doctors. Methods: The method uses the grouping research the method, supposes the experimental group and the control group according to the stochastic grouping principle, separately uses the multimedia union heart and lungs anabiosis computer teaching to 62 rural doctors to simulate the human teaching method or the traditional version book teaching method situation conducts the track investigation and study. Results: In the result 62 examples experiments the group and the control group the result has the highly remarkable difference in the theory knowledge test and the operation inspection, has statistics significance (x2=7.4, p<0.01). Conclusion:The conclusion multimedia union heart and lungs anabiosis computer teaching simulates the human teaching training to have the remarkable function in rural doctor in the CPR, should give to promote.