Wilson’s disease is an autosomal recessive disorder of copper metabolism. The resultant accumulation of copper primarily damages the liver and brain, resulting in hepatic, neurological and psychiatric symptoms. There have been many recent studies advancing the understanding of Wilson’s disease in Asia. There are indications that the incidence of Wilson’s disease in parts of Asia may be relatively high. Many genetic studies have identifi ed various hot spots in theATP7B gene in a variety of the Asian populations. Screening of these hotspot mutations may thus be useful in confi rming the diagnosis. Despite the advances in treatment, lack of familiarity by the health care profession resulting in late diagnosis, and poor access to treatment particularly among those from the developing economies remain areas of major concern.

Background Corneal alkali burn is a common cause of corneal neovascularization(CNV).Researches demonstrated that aquaporin 1(AQP1) plays key role in neovascularization of tumor tissue.So it is speculated that AQP1 participates in pathogenesis and development of CNV.ObjectivePresent study aims to investigate the expression of aquaporin 1(AQP1) in cornea after alkali burn and explore its role in corneal neovascularization.MethodsCornea neovascularization (CNV) models were established by putting a filter paper (the size of 3 mm in diameter immersed 1mol/L NaOH solution) on cornea for 20 seconds in the left eyes of 25 adult Sprague Dawley rats.The fellow eyes were treated using the filter paper with normal saline solution as normal control group.Corneal new blood vessel was evaluated under the slim lamp biomicroscopy once per day,and area of new vessel was calculated.The animals were sacrificed and corneal samples were obtained in day 1,4,7,14,21 after corneal alkali burn.The expression of AQP1 and VEGF in corneas were detected by immunochemistry,and the relative expression level of AQP1 mRNA in rat cornea was determined using RT-PCR.ResultsThe corneal neovascularization grew at the second day and reached the largest area at the fourteenth day after corneal alkali burn.The expression of VEGF protein (gray value) in corneal sample was significantly elevated from the first day through the fourteenth day after corneal alkali burn in comparison with control group(t_(1d)=12.410,t_(4d)=29.428,t_(7d)=16.030,t_(14d)=13.321,P＜0.05),and then the expression level declined till twenty-one day without obvious difference in comparison with control group(t_(21d)=1.587,P＞0.05).The expression of AQP1 protein showed the same tendency with that of VEGF protein(t_(1d)=7.623,t_(4d)=15.293,t_(7d)=18.291,t_(14d)=14.483,t_(21d)=6.381,P＜0.05).The dynamic change expressions of AQP1 and VEGF showed a significant positive correlation(r=0.834,P＜0.05).The expression of AQP1 mRNA (A value)was weaker in control group but considerably increased after alkali burn with the peak value in the seventh day,showing a significantly difference between day 1,4,7,14 and control group(t_(1d)=3.491,t_(4d)=10.690,t_(7d)=12.936,t_(14d)=10.767,t_(21d)=8.594,P＜0.05).ConclusionThe level of AQP1 expression is markedly related to inflammatory CNV in rat cornea after alkali burn.

Air Pollutants, Occupational ; analysis ; Chromatography, Gas ; methods ; Methyl Ethers ; analysis ; Workplace

To clarify the effects of zinc on the proliferation and apoptosis of cultured human retinal pigment epithelia (RPE) and the expression of caspase-3 in RPE cells. The effect of Zinc on the proliferation of RPE were examined with MTT method. TUNEL method was used to detect the apoptosis of RPE cells. Caspase-3 was detected by immunohistochemistry. A concentration of zinc higher than 0.001 microM could inhibit the proliferation of RPE. And the relationship between concentration of zinc higher than 10 microM and growth prohibition rate of RPE cells was dose-dependent. All concentrations of zinc including 0.001 microM enhanced the expression of caspase-3 of RPE. But only the concentration of zinc higher than 0.01 microM could induce apoptosis of RPE. It is concluded that zinc could enhance the expression of caspase-3 of RPE cells and induce apoptosis of RPE cells. Caution should be taken when using zinc supplements for the treatment of ARMD patients without deficiency of zinc.
Apoptosis/*drug effects ; Caspase 3 ; Caspases/metabolism ; Cell Division/drug effects ; Cells, Cultured ; Dose-Response Relationship, Drug ; Pigment Epithelium of Eye/*cytology ; Zinc/*pharmacology

Objective To explore the effect of mirror therapy in conjunction with task-oriented training on the upper extremity function of post-stroke patients and the possible mechanisms. Methods Twenty-one post-stroke patients were randomly assigned to a treatment group (10 patients) or a control group (ll patients).The patients in the treatment group were given conventional rehabilitation therapy and mirror therapy in conjunction with task-oriented training for 4 weeks.The control group was given only the same conventional rehabilitation treatment as the treatment group and upper extremity task-oriented training for 4 weeks.Both groups trained 1 h/d,5 d/week.Upper-extremity motor ability was assessed using the Fugl-Meyer assessment (FMA) and the Hong Kong version of the functional test for the hemiplegic upper extremity (FTHUE-HK).Ability in the activities of daily living (ADL) was assessed using the Barthel Index (BI) pre-treatment and after 2 and 4 weeks of treatment. Results At the 2nd week and 4th week evaluations,the FMA,FTHUE-HK and BI scores in both groups had all significantly increased compared with pretreatment.The average FMA score in the treatment group increased significantly more than in the control group at week 2,but by the 4th week both FMA and FTHUE-HK scores in the treatment group significantly exceeded those in the control group.There was no significant difference between the two groups in the improvement of their average BI scores. Conclusions Implementing mirror therapy in conjunction with task-oriented training is efficacious.It may promote upper-extremity motor ability in patients with hemiparesis soon after stroke,but there is no definite improvement in ADL ability.

Objective To investigate the characteristics of Wegener granulomatosis in children and to improve its recognition. Methods Ten pediatric patients with Wegener granulomatosis were studied retrospectively by clinical manifestations, serum examination, pathological data, treatment, etc. Results All children had clinical evidence of upper respiratory tract and lungs involvement; kidney lesion occurred in 6 cases(6/10); joints, skin, eyes and nervous system were also involved with different degree, cANCA (PR3) showed positive in 8 cases; Pathological examination (1 kidney sample, 2 nasal mucosa samples, 2 skin samples) showed granulomatous vasculitis and crescents were found in renal biopsy; 7 cases were treated with corticosteroid plus cyclophosphamide, 1 case was treated with corticosteroid plus methotrexate, and improvement were seen in all of them. Conclusions Wegener granulomatosis in children have diverse clinical manifestations and clinical diagnosis is difficult. The upper and lower respiratory tract and kidney are most commonly involved organs. ANCA inspection is characteristic. Treatment with corticosteroid and immunosuppressive can achieve good outcome.

Objective To evaluate the diagnostic value of colonoscopy for patients with chronic diarrhea.Methods Data of 2449 patients with chronic diarrhea who underwent colonoscopy from January,1999 to December,2008 were reviewed.A total of 2110 patients who underwent colonoscopy screening for health checkup during the same period were used as controls.The rates of clinic-relevant abnormal endoscopic findings and negative finding were compared between two groups.Results Lesions with clinic significance were found in 44.1％ of patients with chronic diarrhea (1080/2449) and in 41.7％ of controls (870/2110,x2 =2.756,P =0.097).Compared with controls,incidence of non-IBD and noninfectious colitis (x2 =58.578,P ＜ 0.001),IBD (x2 =59.609,P ＜ 0.001),malignant tumor (x2 =21.649,P ＜0.001),terminal ileitis (x2 =6.275,P =0.012),infectious colitis (x2 =17.019,P ＜0.001),intestinal tuberculosis (x2 =7.021,P =0.008),melanosis coli (x2 =6.040,P =0.014) and parasitic infection (x2 =4.245,P =0.039) were all significantly higher in patients with chronic diarrhea.However,incidences of adenomatous polyps (x2 =14.124,P ＜ 0.001),non-adenomatous polyps (x2 =33.427,P ＜0.001) and diverticular disease (x2 =9.921,P =0.002) were significantly higher in the control group.There was no significant difference in incidences of the benign tumor (x2 =1.627,P =0.202) and angiodysplasia (x2 =0.231,P =0.631) between the two groups.The overall screening rate of colonic polyps,diverticulosis,and vascular lesions was 37.3％ in chronic diarrhea group.Conclusion Colonic polyps,diverticulitis,benign tumors and angiodysplasia may not be the causes of chronic diarrhea.Etiology of more than 1/3 patients with chronic diarrhea remains unknown after colonoscopy.

Objective To investigate the clinical significance of early lactate clearance rate in respect of the prognosis of patients with severe chronic obstructive pulmonary disease (COPD) . Methods A total of 108 COPD patients with respiratory failure were studied prospectively. The patients were divided into survival group ( n = 82) and the death group ( n = 26) , and the survival group further divided into the conventional treatment subgroup ( n = 55 ) and the invasive ventilation subgroup ( n = 27 ) . Arterial blood lactate, arterial gas analysis, APACHE Ⅱ score and the 6-hour clearance rate were measured before and 6 hours after treatment in 3 groups. The high lactate clearance rate group (n =71 ) was defined as a lactate clearance rate ＞ 10% , and the low lactate clearance rate group (n = 37) with a lactate clearance rate ＜ 10%. The correlation between 6-hour lactate clearance rate and prognosis in patients was analyzed. Results Compared the survival patients in invasive ventilation group with the death group, there were no statistical differences in arterial blood lactate, pH value, PaCO2, PaO2, oxygenation index and APACHE Ⅱ score before the treatment. The 6-hour lactate clearance rate in survival patients in conventional treatment group or invasive ventilation group was significantly higher than that in the death group (t =31.2, P＜0. 01; t =34.6, P＜0. 01, respectively), while there were no statistical differences in APACHE Ⅱ score and pH value between these 3 groups. Between the conventional ventilation treatment group and the invasive ventilation treatment group, there was no statistical difference in 6-hour lactate clearance rate ( P ＞ 0. 05 ) . There was no statistical difference in APACHE Ⅱ score between before treatment and after treatment in 3 groups. Mortality in high lactate clearance rate group (4. 2% ) was significantly lower than that in low lactate clearance rate group (62. 2% ) (x2 = 121.9, P ＜ 0. 01 ) .Conclusions The early (6h) lactate clearance rate could be used as a marker for evaluating the severity,therapeutic efficacy and prognosis of patients with severe COPD.

Objective To explore the feature and the optimal treatment of kidney stones in children associ-ated with infant formula which had been aduherated with melamine.Method Total of 47 cases of urinary stone and 31 cases of acute renal failure caused by urinary multiple obstruction in children associated with infant formula which had been adulterated with mlelamine in Beijing Children's Hospital University of Medical Science,form Jan-uary to November,2008 were retrospectively analyzed.Results Infant formula which had been adultemted with melamine may lead to kindey stones in 15 days.The mean age was 11-month and the ratio of male to female was 2.6:1.The kindey stones were usually multiple and mostly located either in the ureteropelvic junction or all through the ureter.In the view of the renal function resuming duration,there was no statistic difference among the acute renal failure group,operation group and the conservative group(P=0.683～0.846).In children with uri-nary obstruction and acute renal failure,hemedialysis or peritoneal dialysis was performed.83.9%were relieved by posting catheter through panedoseope and blood purification.100% of the patients resumed normal renal func-tion.81.3% of the patients without acute renal failure had recovered after conservative therapies such as infusion.Conclusions The patients associated with infant formula which had been adulterated with melamine were Usually little infants.Male were more vulnerable than female.Most of them had recovered smoothly and the renal function resumed normal after effcient therapies.

Plasma exchange is a commonly used blood purification method, h includes plasma exchange,double filtration plasmapheresis and immunoadsorption.Many nervous system diseases have the antibody. Guillian-Barre syndrome is caused by antibodies of the nervous system demyelinafing disease; Myasthenia grads is caused by the acetylcholinc receptor antibodies. CIDP also has autoimmune-mediated mechanism. Plasma exchange can be apphed effectively to remove antibodies, and to quickly improve the patient' s clinical symptoms and shorten the course of disease.