PKHD1 ( polycystic kidney and hepatic disease 1), the causal gene of human autosomal recessive polycystic kidney disease(ARPKD), is located on chromosome 6p12.2 and covers a genomic region of ～500 kb. PKHD1 is among the largest human genes, with a minimum of 86 exons from which multiple transcripts may be generated by alternative splicing. The longest continuous open reading frame consists of 12 222 bp, encoding a 4 074 amino acid protein, designated as fibrocystin/polyductin (FPC). FPC is predicted to be a receptor like protein, with single transmembrane domain and a short cytoplasmic tail. The expression of mouse FPC can be detected in various duct-containing organs. In mouse embryogenesis, FPC appears in developing neural tube, bronchi, and the primordial gut as early as the day of E9.5. In fetal human kidneys, high level of FPC expression is present in ureteric bud and its expression continues throughout the process of renal tubuobranching. In adult human kidneys, FPC mainly expresses in the epithelia of renal collecting ducts. FPC is subcellularly localized to the primary cilia and concentrated on the basal bodies in renal epithelial cells. The detail function of FPC is still unrevealed, most recent studies demonstrate that FPC, as a receptor, may transduce cell signal by interacting with a trp superfamily TRPP2 (PKD2), which is a causal gene for ADPKD, and mediate intracellular calcium homeostasis to regulate differentiation, proliferation, migration and polarity of various duct/tubular epithelia, in turn, to modulate the formation of all physiologic ducts, tubules and tracts.

A varus dropped foot, one of the most common deformities of hemiplegic lower limb in stroke patients, significantly affected the ability of ambulation. Electric stimulation therapy was one of mostly used techniques for this problem. This paper focused on the application of low frequency electric stimulation in the treatment of the varus dropped foot in stroke patients, analyzed the clinical efficacy and advantage of neuromuscular electrical stimulation and functional electrical stimulation, and the discussion of their mechanism.

Objectlve To investigate the effects of different ventilation modes on the efficacy of exogenous pulmonary surfactant(PS)for the treatment of rats with ventilator-induced lung injury(VILI).Methods Forty-two male Wistar rats weighing 310-356 g were randomly divided into 6 groups(n=7 each):group CVT6,group SVT6,group CVT10,group SVT10,group CVT14 and group SVT14.The tidal volume(VT)was set at 6,10 and 14 ml/kg respectively and the respiratory rate(RR) was 75,45 and 32 bpm respectively.The animals were anesthetized with intraperitoneal 3% Pentobarbital 50 mg/kg,then tracheostomized and intubated.VILI model was induced by high-pressure ventilation (HPV) with peak inspimtory pressure (PIP) 40 cm H2O and without positive end-expiratory pressure (PEEP).The air was injected into the trachea via the airway at the end ofexpiration before HPV (T0,baseline value) and 15-25 min of HPV,the airway pressure monitored and the lung compliance(C) calculated.When C was decreased to half of the baseline value,PEEP was increased to 7.5 cm H20.After the tracheal edema fluid was removed,the PS 100 mg/kg was immediately injected into the trachea in group SVT6,SVT10 and SVT14.The equal volume of air was injected into the trachea in group CVT6,CVT10 and CVr14 instead of PS.Then the rats in different groups were ventilated with the corresponding ventilation modes.MAP was monitored and blood samples were token from femoral artery for blood gas analysis at T0, 5 min after HPV (T1 ), and 15, 30, 60, 90, 120 min (T2-6) after administration of PS. The tracheal edema fluid was collected at T1 and T6.The rats were killed at T6 and the lung tissues taken for microscopic examination. Results With the same ventilation mode, the VILI was significantly alleviated after administration of PS. With different ventilation modes,the lung injury was significantly reduced in group SVT 10 compared with the other groups. Conclusion The efficacy of PS for the treatment of rats with VILI is good using the ventilation strategy with VT of 10 ml/kg and RR of 45 bpm.

Objective To explore the factors influencing the functional recovery of patients with spinal cord injury (SCI) at discharge. Methods A total of 105 patients with SCI admitted to the rehabilitation medicine department at Huashan Hospital between December 2004 and October 2009 were studied. Data on eleven variables were collected including the patients' medical history, physical examination results and American Spinal Injury Association (ASIA) scores at admission. Functional status was registered according to the modified Barthel index (MBI) assessed at admission and before discharge. Linear regression analysis was used to assess the influence of the variables.Results After rehabilitation, average MBI and ASIA scores were significantly higher. The multiple regression analysis revealed that injury grade, motor and pinprick sensation scores at admission were related to MBI before discharge.The duration of rehabilitation, the rehabilitation treatment course and motor scores at admission were related to MBI increases during hospitalization. Conclusions Patients with different ages, injury levels and severity can improve their functional abilities through rehabilitation treatment, especially patients with better initial motor ability, longer treatment and earlier intervention.

Objective To analyze the effect of clinical pathways on single disease management.Methods Clinical controlled trials on tumors of uterine,benign biliary tract diseases and benign thyroid neoplasm were collected and related literatures were screened according to the criteria of inclusion.The literature so collected underwent a Meta analysis.Results A total of 21 literatures were included.Meta analysis indicated that statistical difference existed in the total cost of hospitalization(WMD=1046.06,95％CI:- 1281.15 ～ - 810.96,P＜0.00001) and length of hospital stay (WMD=- 2.18,95％CI:-2.59～- 1.76,P＜0.00001)between non-clinical pathways group and clinical pathways group.Conclusion Implementation of clinical pathways can further reduce hospital costs and shorten hospital days of the single disease management.

Objective To study the effect of Qige San ethyl acetate extract on the proliferation of human esophageal carcinoma Eca109 cells and to explore its possible mechanism. Methods Inhibitory effects of Qige San ethyl acetate extract on the proliferation of esophageal carcinoma Eca109 cells were detected by MTT assay, cell apoptosis was detected by flow cytometer, and the expression of protein STAT3, Bcl-2 and Caspase 9 was detected by Western blotting method. Results In the range of 10~100 μg/mL, Qige San ethyl acetate extract inhibited the proliferation of Eca109 cells effectively (P<0.05) . Compared with the control group, Qige San ethyl acetate extract in the concentrations of 1.47, 33.26, 75.52 μg/mL significantly increased the apoptotic rate of Eca109 cells within 48h ( P<0.01). And Western blotting results showed that the ex pression levels of STAT3 and Bcl-2 were reduced, and Caspase 9 was increased with the increase of drug concentration. Conclusion Qige San ethyl acetate extract could significantly inhibit the proliferation of Eca109 cells and induce cell apoptosis, and its mechanism is probably associated with the inhibition of signal transducers and activators of transcription 3 (STAT3) signaling pathway.

Objective To summarize the clinicopathologic characters and the route of lymphatic metastasis of cancers at the gastroesophageal junction. Methods Clinicopathologic data of 86 cancer patients treated from October 2000 to December 2004 were analyzed retrospectively. Results There were 66 males and 20 females, the mean age was 60 years. Most patients were of Bormann typeⅢadenocarcinoma. The incidence of high differentiated adenocarcinoma in TypeⅠcancer was higher than that in other two types (P = 0. 002, P = 0. 004) , while the incidence of poor differentiated carcinoma in typeⅢcancer was higher than other two types(P = 0. 005 ,P = 0. 015). Metastatic rate of lymph nodes in group 1 and group 2(34. 9% ) .group 3 and group 4(36. 0% ), group 7 through to group 9(27. 9% ), group 10 and 11 (15. 1% ) was higher than in other groups, while that in group 5 and 6(11. 6% ) , and group 12(5. 8% ) was lower compared with other lymph nodes (P

Objective To investigate the clinical application of fast track surgery in patients undergoing elective colorectal carcinoma surgery. Methods Seventy patients with colorectal carcinoma requiring colorectal resection were randomized into two groups: fast-track group (35 cases) and conventional care group (35 cases). Results Sixty-two patients finished the study, 32 cases in fast-track group and 30 cases in conventional care group. The median and average time to the first passage of flatus (2±1 vs. 4±2, P<0.01), the first passage of stool (3.8±1.6 vs. 6.4±2.5, P=0.0007), resumption of normal diet [(4±2) vs. (8.2±2.2), P<0.01] and the length of postoperative stay (6±1 days vs. 11.7±3.8 days, P<0.01) were much shorter in the fast-track group than in the conventional care group. The preoperative incidence of thirst (2/32 vs. 23/30, P<0.01), hunger (5/32 vs. 20/30, P<0.01) and postoperative infectious complications (2/32 vs. 8/30, P=0.04) were much lower in the fast-track group than in the conventional care group. Conclusion Fast track surgery in patients undergoing elective colorectal resection was safe and effective.

Objective To study the effect of operative modalities on the prognosis of gastric carcinoma patients suffering from various types of intra-abdominal metastasis. Methods In this study, 150 cases of gastric cancer with abdominal metastasis screened from data base, were divided by the location into peritoneal dissemination group (n=106), hepatic metastasis group (n=19) and both peritoneal dissemination and hepatic metastasis group (n=25). The surgical interventions include total resection, palliative resection and no resection. The clinicopathological parameters and prognosis were analyzed. Results The total tumor resection rate in peritoneal dissemination group (48.1%) and hepatic metastasis group (63.2%) was significantly higher than that in both peritoneal and hepatic metastasis group (20.0%), with the mean survival time (months) being 31.1, 12.8, 9.7 respectively (P<0.05). In peritoneal group, the mean survival (months) for tumor total resection, palliative and no resection subgroup was 46.3,1.7,4.8 respectively (P<0.05), whereas in hepatic metastasis group, the mean survival (months) was 17.2,4.0,5.4 respectively (P<0.05), in both peritoneal and hepatic metastasis group, the mean survival (months) was 11.2,8.9,5.0 respectively (P>0.05). Lymph nodes resection significantly prolonged survival in peritoneal dissemination group. Conclusions The prognosis of gastric cancer with peritoneal dissemination is better than with hepatic metastasis. Tumor total resection and lymph node dissection significantly improve the survival of patients suffering from peritoneal or hepatic dissemination.

Objective To investigate the efficacy of sunitinib in the treatment of patients with imatinibresistant advanced gastrointestinal stromal tumor (GIST).Methods The clinical data of 45 patients with imatinib-resistant advanced GIST who received the treatment of sunitinib (37.5 mg/d) at the First Affiliated Hospital of Sun Yat-Sen University from March 2008 to June 2012 were retrospectively analyzed.The mutation of c-kit and platelet-derived growth factor receptor α (PDGFRα) was detected,and the efficacy of imatinib was assessed after the treatment for 3 months,and factors influencing the survival were analysed.The survival rate was calculated using the Kaplan-Meier method,survival analysis was done using the one-way analysis of variance,and multivariate analysis was done using the COX regression model.Results The median time of treatment with sunitinib for the 45 patients was 11.0 months (range,4-37 months).The complete remission rate,partial response rate,rate of stabilized condition and disease progression rate were 15.6％ (7/45),8.9％ (4/45),46.7％ (21/45) and 28.9％ (13/45) after the treatment with sunitinib for 3 months.All the patients with clinical (imaging) complete remission received surgery for metastatic lesions or B-ultrasound guided ablation for single liver metastasis before the treatment with sunitinib.The most common grade 3 or 4 adverse reactions of sunitinib were hand-foot syndrome and anemia.C-kit and PDGFRα mutational analysis were carried out.C-kit exon 9 mutation was detected in 9 patients,c-kit exon 11 mutation in 21 patients,and no mutation was detected in 12 patients.The median progression-free survival time was 8.0 months (range,4.1-11.9 months),and the median overall survival time was 25.0 months (range,13.4-36.6 months).The results of univariate analysis showed that the primary lesion sites and mutational status of primary lesions were factors influencing the progression-free survival and overall survival (x2=5.967,6.622 ; 7.965,8.765,P ＜ 0.05).The results of multivariate analysis showed that only the mutational status of c-kit of primary lesions was the independent factor influencing the progression-free survival and overall survival (Wald =6.540,7.205,P ＜ 0.05).The progression-free survival and overall survival of patients with c-kit exon 9 mutation and patients with no gene mutation were significantly longer than patients with c-kit exon 11 mutation (x2 =7.965,8.765,P ＜ 0.05).Conclusion Sunitinib with a dosage of 37.5 mg/d could effectively treat patients with imatinib-resistant advanced GIST.A better survival is observed in patients with c-kit exon 9 mutation or with no gene mutation when compared with patients with c-kit exon 11 mutation.