Aquaporin (AQP)is a molecular weight of about 28 kD of the four polymer structure membrane channel protein. In mammals,there are 1 3 different AQP,expressed in different tissues and organs,regulating waterand glycerol and urea and other small molecules transmembrane transport of major proteins.AQP-1 is mainly expressed in the renal proximal tubule and Henle’s loop drop bronchiole epithelial cell apical membrane and basement membrane,is responsible for the reabsorption of renal tubular water molecules.The expression of AQP-1 can be changed when the kidney is damaged or damaged,so it is very important to study the mechanism of AQP-1 for understanding the pathogenesis of water metabolism and the treatment of clinical water metabolism.

Objective To characterize the effects of AQP1 expression on kidney damage in rat disseminated intravascular coagulation(DIC) caused by lipopolysaccharide(LPS) dosing. Method Fifty male Wistar rats (clean grade) were randomly assigned into 5 groups of 10 rats. The 10 control rats were dosed with 10 ml of 0.9%NaCl solution by a drip via the vena caudalis within 4 h, and blood and tissues were obtained after treatment completion. In the DIC groups, the rats were dosed with LPS (30 mg/kg body weight in 10 ml of 0.9% NaCl solution) by a drip via the vena caudalis within 4 h, and blood and tissues were obtained at 4, 6, 8 and 10 h. The blood platelet(PLT) count, prothrombin time(PT) , activated partial thromboplastin time(APTT), fibrin(FIB) and D-dimer(D-D) were detected. Hematoxylin and eosin(HE) staining was used to examine the pathologic changes in the lung and kidney tissues of each group (both hematologic parameters and tissue pathologic changes were used to judge the course of DIC). The AQP1 gene expression levels in the kidney tissues from the groups were evaluated by the mRNA levels using RT-PCR. Statistical analyses were performed by the SNK- q method. Results The PLT count, PT, APTT, FIB and D-D examinations revealed remarkable changes in all DIC groups compared with the control group (P < 0.01). The AQP1 mRNA level was significantly decreased in the DIC group at 4 h compared with the control group (P < 0.01) , and further decreased to the minimum level in the DIC group at 6 h. Moreover, cloudy swelling of renal tubular cells was observed at 6 h and cell degeneration and necrosis were observed at 8 h among the DIC groups. Conclusions Downregulation of AQP1 mRNA expression occurred before damage to the renal tubular cells in DIC, indicating that AQP1 expression may be involved in the kidney damage observed in rat DIC.

The clinical values of acetoacetate ( AcAA ) and β hydroxybutyrate ( βHBA ) determination in classification of type 1 and2 diabetes were explored. 102 normal control subjects,33 cases of type 1 diabetes, and 104cases of type 2 diabetes were enrolled. Serum AcAA, βHBA, fasting plasma glucose ( FPG), C-peptide, and insulin levels were measured. The results showed that serum AcAA, βHBA, total ketone tody (TKB) levels in the diabetic groups were significantly higher than those of the normal group( P＜0. 01 ). AcAA, βHBA, TKB levels in type 1diabetes were higher as compared with those of type 2 diabetes( P＜0.01 ). The AcAA, βHBA, and TKB levels were negatively related with C-peptide and insulin in diabetic patients( P＜0. 01 ). All the type 1 diabetic patient were found to have TKB and lower C-peptide levels. TKB positive and lower C-peptide in type 2 diabetes were found in 47% and 26% respectively. Receiver operating characteristic (ROC) curve suggested that the area under the ROC curve of type 1 and type 2 diabetes was 0.926. The optimal operating point of the total ketone body was 0. 532 mmol/L with higher sensitivity and specificity. Enzymatic determination of acetoacetate and β hydroxybutyrate seems to have important clinical values for classification of type 1 and 2 diabetes.

Objective To evaluated T-wave characteristics in newborn infants with different gestational age. Methods One hundred and forty-two newborn infants were divided into four groups based on the gestation age consisting of the 28～30 weeks group,31～33 weeks group,34～36 weeks group and 37～40weeks group, respectively. The T-wave characteristics of electrocardiogram were compared among the newborn infants of four groups. Results TV1 amplitudes ( mV, median ( interquartile range) ) of 4 groups were -0. 10( -0. 30～0. 10), -0. 10( -0. 30～0. 15), -0. 10( -0. 45～0. 25 ) and 0. 10( -0. 30～0. 70) ,respectively. There was a statistical elevation of TV1 amplitude with the increase of the gestational age. TV5 amplitudes( mV, median ( interquartile range ) ) of 4 groups were 0. 10 ( - 0. 10～0. 30), 0. 10 ( - 0. 20～0. 30) ,0. 15( -0. 05～0. 25) and 0. 10( -0. 10～0. 50) ,respectively. No significant differences of TV5 amplitudes were found among 4 groups. The incidences of low or inverted T-waves in leads I and aVL, or low and flat T-waves in all leads reduced significantly with the increase of the gestational age. Conclusion The TV1 amplitude and the incidence of abnormal T-wave in newborn infants are correlated to the gestational age,and TV5 amplitude is not correlated to the gestational age.

Objective To detect the DMD gene mutation sites and the regions of breakpoints in Duchenne/Becker muscular dystrophy (DMD/BMD) patients in northern China. Methods Multiplex amplifiable probe hybridization (MLPA) was used to detect the mutation in 59 cases (51 cases with DMD and 8 with BMD) from northern China and dystrophin gene mutations in their parents. Results From northern China and dystrophin gene mutations 59 families found gene deletions in 33 cases of 59 DMD/BMD patients (55.9%), duplications in 6 cases (10. 2%) and point mutation in one case (1.7%). Intron 44 was most frequently affected (n = 13, 33.3%), followed by intron 50 (n = 11, 28.2%) and intron 45 (n=8, 20.5%). The novel mutations were identified, in two patients including two independent duplications carried by patient D1 149 and a point mutation [5208del(A)] carried by patient D1 65, which were not included in Leiden database. In addition, an exon 22 deletion was found in one patient, which was the first reported case in Chinese patients. Conclusions Deletions are mostly located in the hotspot between exon 45 and 50. Duplications mostly occurred in the 5' end of the gene. Intron 44 is the most frequently affected breakpoint in northern Chinese population.

This study mainly explored the pulse parameters in children with RRTI with different TCM syndromes,aiming at providing therapeutic indexes and objective basis for its diagnosis and treatment.Three hundred and forty-eight cases of RRTI were divided into five groups,including the group of qi deficiency in the lung (or Fei Qi Xu,FQX),the group of invasion of the lung by wind-heat (or Feng Re Fan Fei,FRFF),the group of invasion of lung by wind-cold (or Feng Han Fan Fei,FHFF),the group of obstruction of phlegm-damp in the lung (or Tan Shi Zu Fei,TSZF) and the group of obstruction of phlegm-heat in the lung (or Tan Re Yong Fei,TRYF).65 children of good health were involved in the control group.Z-BOX pulsemeter apparatus was applied to the paraticipants for analyzing their pulse parameters.As a result,it was found that values of h1,h3,h4,h5,t and h4/h1 of RRTI children decreased,compared with the children of good health (P ＜ 0.01);while h1,h3,h4 and h5 of children in FQX group declined (P ＜ 0.01);and the values of h4,h5,t,w,h3/h1,h4/h1 and h5/h1 of children in FRFF group went down (P ＜ 0.01);while the values of h1,h3,h4,h5,t,w,h3/h1 and h4/h1 of TRYF group fell (P ＜ 0.01);and those of h5,t and h5/h1 of children in FHFF group decreased (P ＜ 0.01).Compared with FQX group,h1 value of FRFF group increased (P ＜ 0.01),while the values of w,h3/h1,hs/h1 and w/t of FRFF group declined (P ＜ 0.01);and the h1 value of TSZF group boosted (P ＜ 0.01),while the value of w and h3/h1 of TRYF group decreased (P ＜ 0.01);and the h5/h1 value of FHFF group fell (P ＜ 0.01).In comparison with FRFF group,the values of t,w and h5/h1 of TSZF group went up (P ＜ 0.01),while the values of h1 and h3 of TRYF group declined (P ＜ 0.01).In comparison with TSZF group,the values of h3,h4,t and w of TRYF group went down (P ＜ 0.01),and the t value of FHFF group decreased (P ＜ 0.01).In conclusion,the pulse parameters of RRTI children can be recognized as objective indicators for TCM syndrome differentiations.

Objective To explore the adeno-associated virus (AAV)gene transduction and cellular endocytosis mediated by ultrasound combined with microbubbles in two types of cells.Methods HeLa and NIH/3T3 cells were infected by rAAV2-EGFP at a concentration gradient to get the optimal concentrations for enhancement.At these concentrations,HeLa and NIH/3T3 cells were infected by rAAV2-EGFP mediated by ultrasound combined with microbubbles.The gene transduction efficiency were observed and measured by fluorescence microscopy and flow cytometry at 48 h after treatment.The cell viability was tested by CCK-8.The number and distribution of cellular clathrin-coated endocytic pits were observed by confocal fluorescence microscopy and transmission electron microscopy on 45 min after treatment.Results The optimal concentrations for HeLa and NIH/3T3 cells were 2000 v.g./cell and 10000 v.g./cell.Ultrasound combined with microbubbles significantly enhanced the transduction efficiency of rAAV2-EGFP (P <0.01) without significant cell viability decrease (P > 0.05 ).Confocal fluorescence microscopy and transmission electron microscopy demonstrated that clathrin-coated endocytic pits were more obviously increased in ultrasound combined with microbubbles mediated AAV transduction group than AAV transduction group. Conclusions Ultrasound combined with microbubbles can efficiently enhance the gene transduction of AAV,whose cellular transportation depends on cellular endocytosis,in two types of cells.Stimulating cellular endocytosis might be one of the mechanisms of enhanced cellular transportation of AAV mediated by ultrasound combined with microbubbles.

Objective:To evaluate the efficacy and safety of endoscopic papillectomy (EP) combined with endobiliary radio frequency ablation (RFA) for duodenal papilla tumor with intraductal biliary infiltration.Methods:Data of 12 patients with histologically confirmed duodenal papilla tumor combined with intraductal biliary infiltration treated by EP with RFA from February 2013 to February 2019 were retrospectively analyzed. Clinical characteristics,endoscopic features, treatment efficacy and postoperative complications of patients were reviewed and recurrence was followed up.Results:The median diameter of lesions measured by endoscopic ultrasound was 18.5 mm×15.5 mm, and the length of intrabiliary invasion was 14.1±5.8 mm. EP combined with RFA was successfully performed in all patients with a technical success rate of 100%. Postoperative pathology showed adenocarcinoma in 5 patients, adenoma with high-grade intraepithelial neoplasia in 6 patients, and adenoma with low-grade intraepithelial neoplasia in 1 patient. Patients received mean 4.1±1.6 times of ERCP with intraductal biopsy during a mean follow-up period of 28.5±10.4 months. Recurrence occurred in 2 patients at 14 and 20 months respectively, both were adenocarcinoma.Conclusion:EP combined with RFA is effective and safe for duodenal papilla tumor with intraductal biliary infiltration. However, given the risk of recurrence, close surveillance is recommended.

Objective To explore the clinical features and risk factors of post-concussion syndrome (PCS) in patients after mild traumatic brain injury (mTBI).Methods Two hundred and seventy-six patients with mTBI,admitted to our hospital from December 2016 to June 2018,were chosen in our study;114 patients (41.30％) developed PCS.The epidemiological data,causes and sites of brain injury,clinical symptoms,and duration and time of PCS occurrence were investigated.Multivariate Logistic regression was used to analyze the risk factors of PCS in patients with mTBI.Results The most common syndromes of PCS were headache (89.13％),amnesia (63.77％),dizziness (63.04％) and nausea (57.61％).The incidence rate of PCS was 51.75％ in the first month of injury and decreased with time.Multifactor Logistic regression analysis showed that student (P=0.041,OR=0.36,95％ CI:0.14-0.95),electric bicycle accidents (P=0.043,OR=0.54,95％CI:0.30-0.98),and occipital injury (P=0.022,OR=0.28,95％CI:0.09-0.83) were independent risk factors of PCS of mTBI patients.Conclusion Patients with mTBI,especially those who are students,victims of electric bicycle accidents and victims of occipital injury,should be highly alert to the occurrence of PCS,and need reasonable rest,symptomatic treatments and memory training or other rehabilitation treatments within one month of injury,in order to prevent the development of PCS.

OBJECTIVETo identify potential mutation underlying hereditary coagulation factor XII (FXII) deficiency in a pedigree and explore its molecular pathogenesis.

METHODSActivated partial thromboplastin time (APTT), FXII activity (FXII:C) and FXII antigen(FXII:Ag) and other coagulant parameters of the proband and 5 family members were measured. Potential mutations in the 14 exons and intron-exon boundaries of the FXII gene were screened with polymerase chain reaction (PCR) and direct DNA sequencing. Suspected mutations were confirmed with reverse sequencing. Corresponding PCR fragments from other family members were also sequenced.

RESULTSAPPT of the proband and his son were significantly prolonged to 121.5 s and 98.5 s, respectively. FXII:C and FXII:Ag of the proband and his son have reduced to 5%, 6.8% and 9%, 12.2%, respectively. Plasma plasminogen activity (PLG:A) in both individuals was slightly higher than the normal reference range. FXII:C of his second daughter and grandson were slightly reduced to 64% and 60%. FXII:C of the other family members were all in the normal range (72%-113%). A heterozygous missense mutation, g.8597G>A, was identified in exon 13 of the FXII gene in the proband, which resulted in an p.Asp538Asn substitution. For the promoter regions of the FXII gene, the genotype of the proband was 46TT. The same mutations and 46T/T were also found in the proband's son but not in other members of the family. The genotypes of the proband's spouse, eldest daughter and grandson were 46CT, and his second daughter was 46TT.

CONCLUSIONThe heterozygous mutation of g.8597G>A identified in exon 13 of FXII gene is a novel mutation. Heterozygous p.Asp538Asn mutation and 46TT in the FXII gene can cause hereditary FXII deficiency, which was probably responsible for the low FXII concentrations in this pedigree.

Adult ; Base Sequence ; Exons ; Factor XII ; genetics ; Factor XII Deficiency ; congenital ; genetics ; Female ; Genotype ; Heterozygote ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Point Mutation ; Young Adult