BackgroundRetinitis pigmentosa (RP) has the genetic and phenotype heterogeneity.To determine the disease-causing gene is a foundation of gene therapy.Objective This study was to localize the pathogenic gene and screen the gene mutation associated with Han Nationality autosomal dominant retinitis pigmentosa (ADRP) in a Chinese family.MethodsTwenty-one families enrolled this study,including 12 patients with ADRP and 9 individuals with normal phenotype.Perimetry,fundus examination,electrooculogram ( EOG ) and electroretinogram (ERG) were performed in 12 patients.Genetic linkage analysis was performed on the subjects in all known genetic loci related to ADRP with a panel of microsatellite markers.Subsequently,the mutation screening of rhodopsin gene was screened by direct DNA sequencing.This study was approved by Ethic Committee of Zhongnan Hospital of Wuhan University.Informed consent was obtained from each subject.ResultsThe fundus appearance of the proband was in accordance with the ADRP,and the EOG and ERG showed undetectable.Contractive visual field also was exhibited in the proband.Linkage analysis showed that the maximum logarithm of the odds(LOD) score reached 3.6671 at marker D3S1292 at recombination fraction θ =0.0.The results of direct DNA sequencing revealed a C→ G transversion mutation at codon 53 in exon 1 of rhodopsin gene,which resulted in a proline to arginine change (Pro53Arg) in 12 patients.However,no similar mutation was found in the unaffected members of this family.ConclusionsThe missence mutation Pro53Arg in rhodopsin gene cosegregate with the RP disease.It is determined to be a pathogenic factor of this ADRP family.

AIM: To investigate the therapeutic effect of tea polyphenols (TP) on cationic bovine serum albumin (C BSA) glomerulonephritis. METHODS: C BSA glomerulonephritic model was induced in rabbits. TP in three different doses (30, 100 and 300 mg?kg -1 ) was administered (ig) once daily for 14 days. RESULTS: TP not only significantly reduced the urinary protein excretion, decreased blood urea nitrogen (BUN) and plasma creatinine (Cr) levels, but also significantly relieved gloermular lesions in the rabbits treated and there was a significant dose dependent relationship between high dosage (300 mg?kg -1 ) and low dosage ( 30 mg?kg -1 ). CONCLUSION: TP can reduce proteinuria, suppress the development of glomerular impairments, and ameliorate the kidney function of rabbits with C BSA glomerulonephritis.

Objective To explore the investigate of X-chromosome-linked inhibitor of apoptosis pro- tein(XIAP)and its effect on chemotherapeutic sensitivity in bladder carcinoma.Methods Using immu- nohistochemistry methods,the expression of XIAP was evaluated in 47 bladder carcinomas and 6 normal bladder tissues.The XIAP gene was transfected into bladder cancer cell line T24 by liposome and the positive clone was screened by G418.Cellular XIAP mRNA level was detected by RT-PCR.The apoptosis of T24 cells was induced by low-dose of mitocycin C(0.005 mg/ml and 0.05 mg/ml,respectively).The in vitro cellular growth activities were assayed by MTT color imetry;and the apoptosis rate was assayed by TUNEL methods. Results The expression rate of XIAP was 78.7%(37/47)in bladder carcinoma samples,with no corre- lation with carcinoma stages and grades(P＞0.05).XIAP mRNA level in transfected T24 ceils was signifi- cantly increased by 3.8 times.Treated with 0.005 mg/ml and 0.05 mg/ml of mitomycin C,the growth rates of XIAP transfected T24 cells were increased [(11.60?0.25)% and(16.51?0.87)% ,respectively,P＜0.05];and the apoptosis rates were decreased [(10.1?0.2)% and( 11.9?0.2)% ,respectively,P＜0.05]compared with those in control cells.Conclusions XIAP is highly expressed in humun bladder car- cinoma samples.Overexpression of XIAP in T24 cells results in decrease in bladder carcinoma cell apoptosis induced by MMC,which may decrease the chemotherapeutic sensitivity of T24 cells.

OBJECTIVETo explore the possibility of injury to the striated urethral sphincter by incision to the anterior lobe region in transurethral prostatectomy.

METHODSWe incised the anterior lobe region of 60 patients with benign prostatic hyperplasia (BPH) undergoing transurethral prostatectomy. The patients were divided into four groups according to the incision fields: proximate superficial (group 1), proximate deep (group 2), distal superficial (group 3) and distal deep (group 4). The tissues taken from the anterior lobe region were subjected to HE staining, and the smooth and striated muscles were detected by immunohistochemical identification of smooth muscle actin (SMA) and myoglobin (MYO) in the tissues. The prostate volume, age, and PSA level of the patients were analyzed against their positive or negative results. The relative contents of the striated muscle were compared among groups 2, 3 and 4. The independent-sample between-group t-test was used for statistic analysis.

RESULTSThe urethral rhabdosphincter was found in the anterior lobe region, with the smooth muscle intermixed with the striated muscle. The incision injury of the urethral rhabdosphincter was associated with the prostate volume. Increased urethral rhabdosphincter was observed in the anterior lobe region, approaching the apex of the prostate and extending to the urethral lumen.

CONCLUSIONThe anterior lobe region should not be excessively incised in transurethral prostatectomy so as to avoid direct injury of the striated urethral sphincter, which is especially important for prostates of smaller volume or operation near the apex of the prostate.

Aged ; Histological Techniques ; Humans ; Male ; Prostate ; anatomy & histology ; pathology ; Prostatic Hyperplasia ; pathology ; surgery ; Transurethral Resection of Prostate ; Urethra ; anatomy & histology ; pathology

OBJECTIVETo investigate the effect of air pollution on stroke mortality in Tianjin, China, and to provide basis for stroke control and prevention.

METHODSTotal data of mortality surveillance were collected by Tianjin Centers for Disease Control and Prevention. Meteorological data and atmospheric pollution data were from Tianjin Meteorological Bureau and Tianjin Environmental Monitoring Center, respectively. Generalized additive Poisson regression model was used in time-series analysis on the relationship between air pollution and stroke mortality in Tianjin. Single-pollutant analysis and multi-pollutant analysis were performed after adjustment for confounding factors such as meteorological factors, long-term trend of death, "days of the week" effect and population.

RESULTSThe crude death rates of stroke in Tianjin were from 136.67 in 2001 to 160.01/100000 in 2009, with an escalating trend (P = 0.000), while the standardized mortality ratios of stroke in Tianjin were from 138.36 to 99.14/100000, with a declining trend (P = 0.000). An increase of 10 µg/m³ in daily average concentrations of atmospheric SO₂, NO₂ and PM₁₀ led to 1.0105 (95%CI: 1.0060 ∼ 1.0153), 1.0197 (95%CI: 1.0149 ∼ 1.0246) and 1.0064 (95%CI: 1.0052 ∼ 1.0077), respectively, in relative risks of stroke mortality. SO₂ effect peaked after 1-day exposure, while NO₂ and PM₁₀ effects did within 1 day.

CONCLUSIONAir pollution in Tianjin may increase the risk of stroke mortality in the population and induce acute onset of stroke. It is necessary to carry out air pollution control and allocate health resources rationally to reduce the hazard of stroke mortality.

Air Pollutants ; analysis ; Air Pollution ; analysis ; China ; epidemiology ; Environmental Monitoring ; Humans ; Models, Theoretical ; Particulate Matter ; analysis ; Poisson Distribution ; Stroke ; epidemiology ; mortality ; Survival Rate ; Time Factors

OBJECTIVETo investigate the adjuvant effect of intraoperative and postoperative low-dose ketamine administration to remifentanil consumption in patient-controlled analgesia (PCA) for lower limb fracture.

METHODSA total of 200 patients with lower limb fracture receiving the surgery were randomly divided into 4 groups. In Groups A, B and C, patients received 0.5 mg/kg ketamine infusion under general anesthesia, and ketamine in a dose of 0.1 mg/ kg, 0.05 mg/kg, 0.01 mg/kg per hour continuously for 24 hours after surgery, respectively. The control group (Group D) received an equivalent volume of normal saline only. With 20 microgram/ml remifentanil in normal saline, postoperative PCA was administered with a background infusion at 2 ml/h following 2 ml as a loading dose and 1ml demand dose with a 3-minute lockout period. Remifentanil consumption, 11-point visual analog scale (VAS) scores, global satisfaction score (GSS), and side effects were also recorded by the acute pain service.

RESULTSCumulative PCA remifentanil consumption in Groups A and B were (1378+/-77) microgram and (1531+/-402) microgram, significantly lower than (1807+/-510) microgram and (1838+/-523) microgram in Groups C and D (P<0.01). VAS scores in Groups A and B were significantly lower than those in Groups C and D (P<0.01). In the first 12 hours after operation, GSS was improved (P<0.01). No respiratory depression was observed. No significant difference in side effects was observed among groups.

CONCLUSIONLow-dose ketamine can relieve postoperative pain and moderately decrease remifentanil consumption for PCA, with no obvious side effects of ketamine.

Adult ; Aged ; Analgesia, Patient-Controlled ; Double-Blind Method ; Female ; Fractures, Bone ; surgery ; Humans ; Ketamine ; administration & dosage ; Lower Extremity ; injuries ; Male ; Middle Aged ; Pain, Postoperative ; drug therapy ; Piperidines ; administration & dosage

Objective To quantitatively explore the effect of air pollution on coronary heart disease mortality in Tianjin.Methods Mortality data in 2001-2009 were from Tianjin mortality surveillance system operated by the Tianjin Centers for Disease Control and Prevention while data related to meteorology and air pollution were from the Tianjin Meteorological Bureau and Tianjin Environmental Monitoring Station,respectively.Generalized Additive Model (GAM) extended Poisson regression was used to examine the relationship between air pollution and mortality in Tianjin,under the controlling of time trends,weather,the day of week and population etc.Results The crude coronary heart disease mortality in Tianjin increased from year 2001 to 2009,from 105.12/100 000 to 167.03/100 000.The standardized mortality rate of 96.07/100 000 to 105.11/100 000.Air pollutants was more strongly associated with coronary heart disease mortality.By single GAM analysis,a 10 tg/m3 increase in SO2,PM10 and NO2,which accounted for 1.25％(95％CI:0.75％-1.75％),0.65％ (95％CI:0.51％-0.79％) and 1.04％ (95％CI:0.52％-1.55％) increased in daily mortality.By multiple GAM analysis,a 10 μ g/m3 increase in SO2 and PM10 which accounted for 0.86％ (95％ CI:0.60％-1.12％) and 0.40％ (95％ CI:0.06％-0.75％) increased the daily mortality.NO2 was not significantly associated with coronary heart disease mortality rates,but factors as low temperature,low wind speed and population size were (P＜0.05).Conclusion Results from this study showed that air pollution was a risk factor for coronary heart disease mortality in Tianjin.

BACKGROUNDTracheostomy should be considered to replace endotracheal intubation in patients requiring prolonged mechanical ventilation (MV). However, the optimal timing for tracheostomy is still a topic of debate. The present study aimed to investigate whether early percutaneous dilational tracheostomy (PDT) can reduce duration of MV, and to further verify whether early PDT can reduce sedative use, shorten intensive care unit (ICU) stay, decrease the incidence of ventilator associated pneumonia (VAP), and increase successful weaning and ICU discharge rate.

METHODSA prospective, randomized controlled trial was carried out in a surgical ICU from July 2008 to June 2011 in adult patients anticipated requiring prolonged MV via endotracheal intubation. Patients meeting the inclusion criteria were randomly assigned to the early PDT group or the late PDT group on day 3 of MV. The patients in the early PDT group were tracheostomized with PDT on day 3 of MV. The patients in the late PDT group were tracheostomized with PDT on day 15 of MV if they still needed MV. The primary endpoint was ventilator-free days at day 28 after randomization. The secondary endpoints were sedation-free days, ICU-free days, successful weaning and ICU discharge rate, and incidence of VAP at day 28 after randomization. The cumulative 60-day incidence of death after randomization was also analyzed.

RESULTSTotal 119 patients were randomized to either the early PDT group (n = 58) or the late PDT group (n = 61). The ventilator-free days was significantly increased in the early PDT group than in the late PDT group ((9.57 ± 5.64) vs. (7.38 ± 6.17) days, P < 0.05). The sedation-free days and ICU-free days were also significantly increased in the early PDT group than in the late PDT group (20.84 ± 2.35 vs. 17.05 ± 2.30 days, P < 0.05; and 8.0 (interquartile range (IQR): 5.0 - 12.0) vs. 3.0 (IQR: 0 - 12.0) days, P < 0.001 respectively). The successful weaning and ICU discharge rate was significantly higher in early PDT group than in late PDT group (74.1% vs. 55.7%, P < 0.05; and 67.2% vs. 47.5%, P < 0.05 respectively). VAP was observed in 17 patients (29.3%) in early PDT group and in 30 patients (49.2%) in late PDT group (P < 0.05). There was no significant difference between the two groups in the cumulative 60-day incidence of death after randomization (P = 0.949).

CONCLUSIONSThe early PDT resulted in more ventilator-free, sedation-free, and ICU-free days, higher successful weaning and ICU discharge rate, and lower incidence of VAP, but did not change the cumulative 60-day incidence of death in the patients' anticipated requiring prolonged mechanical ventilation.

Aged ; Aged, 80 and over ; Critical Illness ; Female ; Humans ; Male ; Middle Aged ; Respiration, Artificial ; Time Factors ; Tracheostomy ; methods

Background Tracheostomy should be considered to replace endotracheal intubation in patients requiring prolonged mechanical ventilation (MV).However,the optimal timing for tracheostomy is still a topic of debate.The present study aimed to investigate whether early percutaneous dilational tracheostomy (PDT) can reduce duration of MV,and to further verify whether early PDT can reduce sedative use,shorten intensive care unit (ICU) stay,decrease the incidence of ventilator associated pneumonia (VAP),and increase successful weaning and ICU discharge rate.Methods A prospective,randomized controlled trial was carried out in a surgical ICU from July 2008 to June 2011 in adult patients anticipated requiring prolonged MV via endotracheal intubation.Patients meeting the inclusion criteria were randomly assigned to the early PDT group or the late PDT group on day 3 of MV.The patients in the early PDT group were tracheostomized with PDT on day 3 of MV.The patients in the late PDT group were tracheostomized with PDT on day 15 of MV if they still needed MV.The primary endpoint was ventilator-free days at day 28 after randomization.The secondary endpoints were sedation-free days,ICU-free days,successful weaning and ICU discharge rate,and incidence of VAP at day 28 after randomization.The cumulative 60-day incidence of death after randomization was also analyzed.Results Total 119 patients were randomized to either the early PDT group (n=58) or the late PDT group (n=61).The ventilator-free days was significantly increased in the early PDT group than in the late PDT group ((9.57±5.64) vs.(7.38±6.17) days,P ＜0.05).The sedation-free days and ICU-free days were also significantly increased in the early PDT group than in the late PDT group (20.84±2.35 vs.17.05±2.30 days,P ＜0.05; and 8.0 (interquartile range (IQR):5.0-12.0)vs.3.0 (IQR:0-12.0) days,P ＜0.001 respectively).The successful weaning and ICU discharge rate was significantly higher in early PDT group than in late PDT group (74.1％ vs.55.7％,P ＜0.05; and 67.2％ vs.47.5％,P ＜0.05respectively).VAP was observed in 17 patients (29.3％) in early PDT group and in 30 patients (49.2％) in late PDT group (P ＜0.05).There was no significant difference between the two groups in the cumulative 60-day incidence of death after randomization (P=0.949).Conclusions The early PDT resulted in more ventilator-free,sedation-free,and ICU-free days,higher successful weaning and ICU discharge rate,and lower incidence of VAP,but did not change the cumulative 60-day incidence of death in the patients' anticipated requiring prolonged mechanical ventilation.

OBJECTIVETo evaluate clinical outcomes after laparoscopic total mesorectal excision (TME) combined with intersphincteric resection (ISR) for ultra-low rectal tumors.

METHODSClinical data of 36 patients with ultra-low rectal tumor undergoing laparoscopic TME combined with ISR were analyzed retrospectively.

RESULTSThe median distance from the inferior margin of the tumor to the anal verge was 3.4 (2.0-5.0) cm. There were 33 cases of well/moderately differentiated adenocarcinoma and 3 rectal malignant villous adenoma. There were 16 patients with stage I disease, 15 with stage II A, 3 with stage III A, and 1 with III B. Postoperatively, one patient developed stenosis at the end ileostomy and 3 anastomotic leakage. After a median follow-up of 16(4-49) months, one patient developed local recurrence at the anastomosis and one case died of liver metastasis. In the 19 patients who had a minimum follow-up of one year, the bowel movements frequency ranged from 1-4 times per day, and these patients were able to withhold defecation for more than 5 minutes.

CONCLUSIONSLaparoscopic TME combined with ISR can achieve oncologic clearance, sphincter preservation, and minimal invasiveness for ultra-lower rectal cancer. However, patients selection should be cautious.

Adult ; Aged ; Aged, 80 and over ; Anal Canal ; surgery ; Female ; Follow-Up Studies ; Humans ; Laparoscopy ; Male ; Mesentery ; surgery ; Middle Aged ; Rectal Neoplasms ; surgery ; Rectum ; surgery ; Retrospective Studies ; Treatment Outcome