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 study the relation between phlegm-damp retention type of metabolism syndrome and microcosmic indices in order to find out the objective evidence for TCM syndrome differentiation.Methods Totally 49 cases of metabolism syndrome were observed,25 of them were phlegm-damp retention type in differentiation and 24 were non-phlegm-damp retention type.The height, body weight,waistline and blood pressure of two groups were measured,the serum leptin,insulin and blood lipid were determined, and the insulin resistance index(IRI)and body mass index(BMI)were calculated.Results The leptin,BMI,systolic pressure,FINS and IRI of the phlegm-damp retention group were all higher than those of the non-phlegm-damp retention group.Conclusion BMI, leptin,insulin,and IRI may be taken as the the index of syndrome differentiation in metabolism syndrome.

Objective:To evaluate the safety and efficacy of a palliative regimen of computed tomography (CT)-guided 125I seed im-plantation combined with chemotherapy for recurrent ovarian cancer. Methods:A total of 21 patients with recurrent ovarian cancer, who received 125I seed implantation and chemotherapy, were retrospectively analyzed. Out of the 29 lesions detected, 25 lesions were suitable for 125I seed implantation. Treatment planning system (TPS) was implemented preoperatively to determine the number and dis-tribution of 125I seeds. Under CT guidance, 125I seeds were implanted into the recurrent lesions using the TPS. Within 3 d of 125I seed im-plantation, liposomal paclitaxel was administered by intravenous infusion on day 1 and carboplatin by infusion via the feeding artery of tumor on day 2. Chemotherapy was repeated on a 21-day schedule. Efficacy and complications were evaluated during follow-up. Re-sults:After two cycles of chemotherapy, out of the 25 recurrent lesions that underwent 125I seed implantation, four lesions showed com-plete remission, 14 with partial remission, three with stable disease, and four with progression of disease. The objective response rate was 72%, and the pain relief rate was 82.4%. Karnofsky's performance status scores increased dramatically (P=0.019). The median pro-gression-free survival time was 6.8 months, median overall survival time was 14.2 months, and the 1-year survival rate was 42.9%. He-matologic toxicity and gastrointestinal reactions were the primary adverse conditions. No severe radiation complications and treat-ment-related deaths were observed in all patients. Conclusion:CT-guided 125I seed implantation combined with chemotherapy is active and well-tolerated in patients with recurrent ovarian cancer. This combined treatment cannot only significantly enhance the objective re-sponse rate, but also leads to remarkable improvement in cancer-related symptoms.

Anemia, Dyserythropoietic, Congenital ; pathology ; Child ; Humans ; Male ; Siblings

AIM: To analyze neuron-related gene expression before and after mesenchymal stem cells (MSCs) differentiating into neuron-like cells. METHODS: MSCs were induced to neuron-like cells with ?-mercaptoethanol. Before inducement and at 8 h after inducement, the total RNA was extracted, then the expression of microtubule-associated protein-2 (MAP-2), growth-associated protein-43 (GAP-43), NSE, nestin and neurofilament (NF) mRNA were detected with RT-PCR. RESULTS: NSE mRNA expressed before and after inducement, MAP-2, GAP-43, nestin and NF mRNA only expressed after inducement. CONCLUSION: The differentiation of MSCs into neuron-like cells may be related to MAP-2, GAP-43, nestin and NF expression. [

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.