1.A case report and literature analysis of an infant with Batter syndrome caused by CLCNKA and CLCNKB gene mutation
China Tropical Medicine 2023;23(9):1002-
Abstract: Bartter syndrome (BS) is a kind of inherited metabolic disease characterized by electrolyte and endocrine disorder, resulting from genetic gene mutation or deletion. Clinically, it manifests as vomiting, constipation, feeding difficulties, weight loss, growth retardation. The laboratory examination shows hypokalemia, metabolic alkalosis, hyperreninemia, aldosteronism, etc. As an autosomal recessive genetic disease, BS has an extremely low incidence rate, making diagnosis and treatment quite challenging. In recent years, with the progress of gene detection and other technologies, China has made great progress in the study of BS, more and more BS has been diagnosed accurately. According to known gene mutation types, it can be divided into type 1, type 2, type 3, type 4, type 5 and Gitelman syndrome, a total of 6 types, with type 4 further divided into type 4a and type 4b. At present, the most common type of children with BS in clinical practice is type 3, which is the classic type of BS. This paper reports a case of Bartter syndrome type 4b (BS4b). After two rounds of three-generation family gene sequencing, it was discovered that the infant had a combined mutation of both the CLCNKA and CLCNKB alleles, in addition to Alport syndrome, and both parents were carriers of this type of gene defect. The child was finally diagnosed as BS4b and Alport syndrome. This report, combined with the patient's clinical features, diagnosis and treatment process, as well as related literature analysis, aims to provide experience for understanding and diagnosis and treatment of this disease.
2.Effect of chemokine receptor antagonist on small intestine transplantation in rats
Jianjun YANG ; Mengbin LI ; Weizhong WANG ; Jing FU
Chinese Journal of Tissue Engineering Research 2009;13(5):961-964
BACKGROUND: Rejection is the main cause of the failure in small intestine transplantation. Cellular immunity mediated by chemotatic factor and the receptor plays an important role in acute rejection. We regard chemokine receptor as target site to design the treatment, which may provide reference for the immunotherapy in clinical small intestine transplantation. OBJECTIVE: To observe the effect of chemokine receptor antagonist, regulated upon activation, normal T cell expressed and secreted (Met-RANTES), on the survival time and histopathological changes of allograft rats which have received heterotopic small intestine transplantation, and the coordinative effects of Met-RANTES used together with low-dose tacrolimus.DESIGN, TIME AND SETTING: Randomized complete-block design and controlled animal experiment, performed in the Department of Gastrointestinal Surgery, Xijing Hospital, the Fourth Military Medical University of Chinese PLA between September 2003 and March 2005.MATERIALS: 180 healthy adult male rats including 90 rats (donors) and 90 Wistar rats (recipients) were involved in this study. Heterotopic segmental small intestine transplantation was performed.METHODS: The rats were randomly divided into 3 groups with 30 rats for each group. Control group: Rats were treated with heterotopic small intestine transplantation alone; Met-RANTES group: Rats were treated with an intraperitoneal injection of Met-RANTES (200 μg/d) at 0-7 days after transplantation; Met-RANTES+low-dose FK506 group: Rats were treated with an intraperitoneal injection of Met-RANTES (200 μg/d)+tacrolimus (0.5 mg/kg/d) at 0-7 days after transplantation.MAIN OUTCOME MEASURES: Gross status and survival time were detected; in addition, every 6 rats were sacrificed at different time points, such as 1,3, 5, and 7 days after transplantation, to compare histopathological changes. RESULTS: Following transplantation, 90 Wistar rats (recipients) were all involved in the final analysis. The survival time median in the control group was 7.2 days (1.5), and all rats died of acute rejection and infection. Histopathological examination showed that mild, moderate and severe rejections were detected at day 3, 5, and 7 after transplantation, respectively. The survival time median in the Met-RANTES group was 19.2 days (16.4), which was significantly longer than the control group (P<0.01). The survival time median in the Met-RANTES+low-dose tacrolimus group was 30.9 days (9.0), and there were significant differences in survival rate as compared with control group and Met-RANTES group (P<0.01). While the rats in the Met-RANTES group and the Met-RANTES+low-dose tacrolimus group showed no obvious indication of rejection.CONCLUSION: Met-RANTES may obviously inhibit acute rejection following small intestine transplantation, effectively protect the function of grafts, and significantly prolong the survival time of the recipients. In addition, Met-RANTES may enhance the immunosuppressive function of low-dose tacrolimus.
3.RANTES expression in small intestine grafts during allograft rejection of rats
Jianjun YANG ; Mengbin LI ; Weizhong WANG ; Jing FU ; Chunmei WANG ; Dan CHEN
Chinese Journal of Tissue Engineering Research 2009;13(18):3593-3596
BACKGROUND: AIIograft rejection is the greatest obstacle that influences graft function and survival, and the diagnosis and treatment of small intestine transplantation rejection are particularly difficult.OBJECTIVE: To explore the significance of chemokine receptor antagonist, Met-RANTES, in small intestine transplantation rejection, and the effects of tacrolimus (FK506) on RANTES expression.DESIGN, TIME AND SETTING: Randomized, controlled animal experiment was performed at the Department of General Surgery, the 451 Hospital of Chinese PLA; Laboratory of Department of Gastrointestinal Surgery, Xijing Hospital, Fourth Military Medical University of Chinese PLA; and Electronic Microscope Center, School of Basic Medicine, Fourth Military Medical University of Chinese PLA between September 2003 and March 2005.MATERIALS: A total of 72 healthy adult male SD rats (donor) and 72 healthy adult male Wistar rats (recipient) were included for heterotopic small intestine transplantation.METHODS: Heterotopic small intestine transplantation was performed. All recipients were divided into four groups (n=18): intact control group: Wistar rats as controls with no surgery; isotransplantation group: Wistar--,Wistar; allotransplantation untreated group: SD→Wistar, with no immunosuppressive agent; allograft allotransplantation and FK-506 group: SD→Wistar + FK-506 (1 mg/kg per day, i.m. for 7 days). The grafts were sampled on postoperative days 3, 5 and 7 and were examined pathologically. Successive quantitative measurement was conducted to detect the expression of graft RANTES with immunofluorescence staining and laser scanning confocal microscope technique.MAIN OUTCOME MEASURES: The pathological changes of grafts in each group; RANTES expressions in small intestine grafts of rats in each group at different time points; inhibition of FK-506 on RANTE expression.RESULTS: Postoperatively, 72 Wistar rats (recipient) were involved in the final analysis. The pathological changes of the allotransplantation untreated group rats were consistent with the criteria of mild, moderate and severe rejection on postoperative days 3, 5 and 7, respectively. No obvious rejection was found in the rats of FK506 group and isotransplantation group on the postoperative days 3, 5 and 7. Expression of intragraft RANTES of allotransplantation untreated group rats was significantly greater than the other three groups (P<0.01). The dynamic change and the process of acute rejection showed positive correlation. Expression of intragraft RANTES in FK-506 treated group was significantly less than other three groups without FK-506 (P<0.01).CONCLUSION: RANTES positive cells play an important role in small intestine allograft rejection. Dynamic observation on expression of intragraft RANTES may act as a predicator for diagnosing acute allograft rejection.
4.Laparoscopic vagal-sparing esophagogastrectomy
Taiqian GONG ; Mengbin LI ; Xiaonan LIU ; Li SUN ; Fan YANG ; Ruwen WANG ; Yaoguang JIANG
Chinese Journal of Digestive Surgery 2013;12(10):742-745
Laparoscopic vagal-sparing esophagogastrectomy for the treatment of early esophageal cancer has the advantages of minimal invasion,functional sparing and better quality of life,and it can radically resect the tumor.The clinical data of 3 patients in the Daping Hospital of Third Military Medical University and 9 patients in the Xijing Hospital of Digestive Diseases who received laparoscopic vagal-sparing esophagogastrectomy from September 2009 to August 2013 were retrospectively analyzed.All the 12 patients were followed up for 1-24 months.One patient was complicated with transit hoarseness and 1 with cervical anastomotic fistular,and they were cured by conservative treatment; 1 patient was complicated with cervical anastomotic stricture,and was cured by dilatation for 3 times; no dysphagia and recurrence was observed in the other 9 patients during the follow-up.Laparoscopic vagal-sparing esophagogastrectomy is a good option for early esophageal cancer and benign esophageal diseases.
5.Preoperative nutritional risk is a risk factor for adverse clinical outcomes in gastric cancer patients
Hu WANG ; Haijia ZHANG ; Lin SHANG ; Bo LIAN ; Xiao LIAN ; Zhenyu HAN ; Wei ZHOU ; Mengbin LI
Parenteral & Enteral Nutrition 2017;24(3):150-154
Objective:To investigate the influence of clinical outcomes and the risk factors of poor prognosis for preoperative nutritional risk in gastric cancer patients.Methods:A prospective study was performed in 140 patients with gastric cancer and the nutritional risk screening 2002 (NRS 2002) was done.The influence of preoperative nutritional risk on postoperative complications,hospital stay,ICU stay,hospital expenses,60 days readmission and mortality was analyzed,and the risk factors of perioperative complication were identified by univariate and multivariate analysis.Results:The significant difference (NRS 2002 ≥ 3 group vs.NRS 2002 < 3 group) was observed in the rates of overall postoperative complications,pulmonary infection,overall hospital stay and postoperative hospital stay (P < 0.05).The rates of anastomotic fistula,pleural effusion,60 days readmission,60 days mortality and hospitalization expenses in NRS 2002 ≥ 3 group were higher than that of NRS 2002 < 3 group,but there were no differences between the two groups (P > 0.05).By univariate and multivariate analysis,preoperative high cholesterol levels and preoperative nutritional risk are the risk factors of poor prognosis and postoperative complications.Conclusion:Preoperative high cholesterol levels and preoperative nutritional risk are independent risk factors of postoperative complications.
6.Change of free radical in serum and the expression of Bax, Bcl-2 and p53 in the liver after ischemia-reperfusion of small intestine
Jipeng LI ; Weizhong WANG ; Rui LING ; Dongli CHEN ; Mengbin LI ; Ji LIU
Chinese Journal of Rehabilitation Theory and Practice 2005;11(3):189-191
ObjectiveTo study the injuries of liver after ischemia-reperfusion of small intestine of the rat.MethodsModels of ischemia-reperfusion of small intestine was made with rats. At 0 min, 30 min, 1h, 2h, 1d, 3d,7d after reperfusion, the concentration of nitric oxide(NO), superoxide dismutase (SOD) in the serum was examed and the expression of Bax, Bcl-2 and p53 in the liver was observed by the immunohistochemical SP method.ResultsThe concentration of NO increased apparently 0 min after reperfusion, but decreased 2 h after, then increased gradually to a peak at 7th day. But for SOD, the concentration decreased 0 min after reperfusion, increased 2 h after,and decreased to the lowest level at 7th day. The immunohistochemical SP positive cells were observed in sinus endothelial cells and hepatocytes. The ratio of positive cells of Bax,p53 and Bcl-2 began to increase 0 minute after reperfusion and increased continuously 30 min after, while that of Bcl-2 was higher than that of Bax(P<0.01). It decreased apparently 2h after, and then increased till 7d after reperfusion,while the ratio of Bax positive cells was higher than that of Bcl-2(P<0.01).ConclusionThe change of concentration of NO, SOD and the expression of positive cells of Bax, Bcl-2 and p53 might play a important role in apoptosis and injuries of the liver after ischemia-reperfusion of small intestine of rat.
7.Living-related small bowel transplantation
Weiliang SONG ; Weizhong WANG ; Guosheng WU ; Gang JI ; Rui LING ; Mengbin LI ; Jipeng LI ; Xiaonan LIU ; Jinxia ZHAO ; Lan LUO
Chinese Journal of General Surgery 2001;10(1):64-67
Objective To introduce the management experience in the first cause of living-related small bowel transplantation in China. Methods An 18-year-old male patient with short gut syndrome received a living-related small bowel transplantation with the graft taken from his father(44-year-old). A segment of 150?!cm distal ileum was resected from the donor. Treatment of immunosuppression, antibiotics, antithrombosis and nutrition support were given posttransplantatively. Results Recently the recipient has a good life quality for 19 months. Conclusions Living-related small bowel trnasplantation can be effectively used to treat short gut syndrome, and the posttransplantative management is the key to the successful transplantation.
8.Living related small bowel transplantation
Weiliang SONG ; Weizhong WANG ; Guosheng WU ; Gang JI ; Rui LING ; Mengbin LI ; Xiaonan LIU ; Jinxia ZHAO ; Lan LUO
Chinese Journal of General Surgery 1993;0(01):-
Objective To introduce the management experience in the first cause of living related small bowel transplantation in China. Methods An 18 year old male patient with short gut syndrome received a living related small bowel transplantation with the graft taken from his father(44 year old). A segment of 150?cm distal ileum was resected from the donor. Treatment of immunosuppression, antibiotics, antithrombosis and nutrition support were given posttransplantatively. Results Recently the recipient has a good life quality for 19 months. Conclusions Living related small bowel trnasplantation can be effectively used to treat short gut syndrome, and the posttransplantative management is the key to the successful transplantation.
9.Effect of influenza virus NS1 protein on host cell.
Lixia ZHAO ; Yingying ZHANG ; Zhixin YANG ; Long XU ; Yutao YANG ; Mengbin YU ; Rong WANG ; Xiaowei ZHOU ; Peitang HUANG
Chinese Journal of Biotechnology 2008;24(11):1912-1917
NS1 is a non-structural protein of the influenza A virus, which could only be expressed when cells are infected. The effect of NS1 protein on host cell is still not clear. To understand the role of NS1 protein in cell infection, recombinant plasmid pCMV-myc-NS1 was constructed, and then transfected into A549 cells. Two-dimensional electrophoresis was employed to analyze proteins regulated by NS1 that could reflect the interaction between influenza virus and host cells at the protein level. The influence of NS1 on cell proliferation and cell cycle was also studied. The result showed that not only could NS1 remarkably affect metabolism, but it could also slow down cell proliferation through blocking cell cycle.
3T3 Cells
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genetics
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physiology
10.Efficacy analysis of uncut Roux-en-Y anastomosis versus Roux-en-Y anastomosis in laparoscopic distal gastrectomy using propensity score matching
Juan WANG ; Quan WANG ; Mengbin LI ; Xuewen YANG ; Xiaohua LI ; Jianjun YANG ; Gang JI
Chinese Journal of Digestive Surgery 2020;19(9):970-975
Objective:To explore the clinical effects of uncut Roux-en-Y anastomosis versus Roux-en-Y anastomosis in laparoscopic distal gastrectomy.Methods:The propensity score matching and retrospective cohort study was conducted. The clinicopathological data of 194 patients who underwent laparoscopic distal gastrectomy in the First Affiliated Hospital of Air Force Military Medical University from January 2017 to May 2019 were collected. There were 130 males and 64 females, aged (57±10)years, with a range from 27 to 78 years. Of 194 patients, 62 undergoing uncut Roux-en-Y anastomosis digestive tract reconstruction in laparoscopic distal gastrectomy and 132 undergoing Roux-en-Y anastomosis digestive tract reconstruction in laparoscopic distal gastrectomy were allocated into uncut group and traditional group, respectively. Observation indicators: (1) the propensity score matching conditions and comparison of general data between the two groups after propensity score matching; (2) intraoperative and postoperative situations; (3) follow-up. Follow-up using outpatient examination and telephone interview was conducted at the postoperative 3 months and 6 months to detect Roux stasis syndrome (RSS), tumor recurrence, readmission, and survival of patients. The propensity score matching was conducted by 1∶1 matching using the nearest neighbor method. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was done using the t test. Measurement data with skewed distribution were represented as M (range). Count data were represented as absolute numbers, and comparison between groups was analyzed using the chi-square test Fisher exact probability. Comparison of ordinal data between groups was analyzed using the nonparametric rank sum test. Results:(1) The propensity score matching conditions and comparison of general data between the two groups after propensity score matching: 104 of 194 patients had successful matching, including 52 in the uncut group and 52 in the traditional group respectively. Before propensity score matching, cases with age ≤60 years or >60 years, cases in stage Ⅰ, Ⅱ, Ⅲ of American Society of Anesthesiologists were 43, 19, 27, 28, 7 for the uncut group, respectively, versus 63, 69, 24, 92, 16 for the traditional group, showing significant differences between the two groups ( χ2=1.279, Z=2.818, P<0.05). After propensity score matching, the above indicators were 33, 19, 20, 25, 7 for the uncut group, versus 34, 18, 15, 33, 4 for the traditional group, showing no significant difference between the two groups ( χ2=0.000, Z=0.500, P>0.05). (2) Intraoperative and postoperative situations: 104 patients underwent laparoscopic distal gastrectomy successfully and received R 0 resection, without intraoperative complications or conversion to open surgery. After propensity score matching, the time of digestive tract reconstruction was (41±10)minutes for the uncut group, versus (52±15)minutes for the traditional group, showing a significant difference between the two groups ( t=4.511, P<0.05). (3) Follow-up: 104 patients were followed up at the postoperative 3 months and 6 months. The incidence of RSS at the postoperative 3 months was 0 for the uncut group, versus 30.8%(16/52) for the traditional group, showing a significant difference between the two groups ( P<0.05). The incidence of RSS at the postoperative 6 months was 0 for the uncut group, versus 9.6%(5/52) for the traditional group, showing no significant difference between the two groups ( P>0.05). There was no tumor recurrence, readmission, death within postoperative 30 days, or cancer-related death in the 104 patients. Conclusion:Uncut Roux-en-Y anastomosis is safe and feasible in the laparoscopic distal gastrectomy, which can effectively shorten the time of digestive tract reconstruction and reduce the occurrence of RSS after 3 months surgery.