Clouston syndrome,also named hidrotic ectodermal dysplasia,is an autosomal dominant genetic disease.It is characterized by hypotrichosis,nail dystrophy and palmoplantar hyperkeratosis.It is caused by mutations in the GJB6 gene.Up to date,there are four GJB6 missense mutations that can cause Clouston syndrome:G1 1R,A88V,V37E and D50N.This article reviews the progress of gene diagnosis and pathogenic mechanism of Clouston syndrome,which can contribute to etiological diagnosis,genetic counseling,intervention as well as treatment.

Cisplatin is widely used in lung cancer chemotherapy, but drug resistance seriously affects its efficacy.The mechanism of cisplatin resistance is not yet clear.Now it is widely recognized that P-glycoprotein (P-glycoprotein, P-gp) expression is associated with cisplatin resistance. Inhibition of P-gp expression can overcome cisplatin resistance and improve the treatment efficacy.

Epilepsy is a common neurological disorder of children. Research in recent years on the mechanism of refractable epilepsy has made some breakthrough. Four concepts have been put forward to explain the development of pharmacoresistance. The transporter hypothesis have become the focus, which contends that the expression or function of multidrug transporters in the brain is augmented, leading to impaired access of antiepileptic drugs to central nervous system targets. An emerging understanding of these underlying molecular and cellular mechanisms is likely to provide important impetus for the development of new pharmacological treatment strategies and clinical test facility.

Objective To observe the clinical efficacy of the double C program consisting of glucose monitoring systems (CGMS) and insulin pump (CSⅡ) in perioperative period of patients undergoing coronary artery bypass patients with type2 diabetes mellitus (T2DM).Methods Divided participants who underwent coronary artery bypass surgery with T2DM into double C treatment group (double C group,n =20) and multiple subcutaneous insulin group (MSⅡ group,n =30).Before and after surgery,blood sugar control in blood glucose time,blood sugar fluctuations,the amount of insulin,the incidence of low blood sugar,incision infection,and total hospitalization days were observed.Results Comparing the double C treatment group with the MSⅡ group,blood sugar fluctuations ((5.76 ± 1.42) mmol/L vs.(7.91 ± 1.68) mmol/L,P ＜ 0.05),the amount of insulin ((38.82 ± 16.97) U/d vs.(49.00 ± 15.32) U/d,P =0.032),the blood sugar compliance time ((3.52 ± 1.13) d vs.(6.00 ± 4.27) d,P =0.002),hypoglycemia (4 cases vs.1 case,P =0.025),the incision infection rates in both the cases(P =0.948),the total admission days((23.68 ± 13.67) d vs.(30.12 ± 2.94) d,P =0.084).Conclusion The double C program is comprehensively effective.for the perioperative glycemic control of patients with T2DM undergoing coronary artery bypass.

OBJECTIVE:To establish the HPLC method for the determination of the related substances in oxaliplatin.METHODS:The chromatographic separation was performed on C18,and the mobile phase consisted of methyl alcohol and water(5∶95)with a flow rate of 1.0 mL?min-1.The column temperature was 25 ℃;the detection wavelength was 250 nm and the sample size was 20 ?L.RESULTS:A good linear relationship was obtained for oxaliplatin within the concentration range of 5～17.5 ?g?mL-1(r=0.999 9)with a limit of quantitation of 3 ng(S/N=3).The average content in 3 batches of crude drug vs.their preparations was 0.081% vs.0.15%.CONCLUSION:This method is accurate,reliable and available,and suitable for the content determination of the related substances in oxaliplatin.

AIM: To observe histopathologic changes and NF-?B expression in hippocampus in neonatal and matural rats after repeated seizures, and to explore the role of NF-?B in the pathogenesis of epilepsy in premature brain of rats. METHODS: Neonatal rats and mature rats were divided into 2 experimental groups at 10 days and 60 days after birth (P10 and P60). Convulsions were induced by repeated injection of pentylenetetrazol (PTZ) intraperitoneally for first 5 days. The animals in control group were injected with NS at the same volume in the same conditions. The neurons in CA1, CA3, dentate granule (DG), as well as in hilar were counted by thionin staining, in order to observe the profile of the necrosis and apoptosis. NF-?B expression was examined by immunohistochemistry assay. Timm's method of silver sulfide staining was adopted to observe the mossy fiber sprouting. RESULTS: (1) In immature rats (10 days old), neurons in CA1, CA3 and hilar demonstrated no differences from controls, whereas adult rats (P60) had a significant decrease in number of neurons in CA1 and CA3 (8.22?1.88, 5.62?1.68 vs 6.31?1.50, 3.62?1.40). In adult rats, neurons in dentate granule showed no differences with controls, whereas immature rats with daily seizures had a significant increase (23.25?3.06 vs 16.25?1.58). (2) There was prominent sprouting in the CA3 stratum pyramidal layer in all experimental rats after 5 daily seizures, regardless of the age. However, the degree of sprouting was significantly different between the two experimental groups (3.25?1.03 vs 1.50?0.92, P

Objective To investigate the effects of hawthorn powder, refined konjac flour and their compound on the levels of lipid and NO in plasma of rats being induced to hyperlipidemia by high-fat and high-cholesterol diet. Methods Fifty adult Wistar rats were randomly divided into five groups which were fed with normal diet, high-fat and high-cholesterol diet (HFD), HFD plus hawthorn powder, HFD plus refined konjac flour, HFD plus hawthorn and konjac compound, respectively. At week 4 and 8, 20 and 30 rats respectively were sacrificed for detecting the levels of lipid and NO in the blood. Results Hawthorn powder, refined konjac flour and their compound could significantly inhibit the increase of blood total cholesterol, triglycerol, VLDL-C, LDL-C induced by HFD and can significantly increase HDL-C and NO in plasma. Conclusion Hawthorn powder, refined konjac flour and their compound have the lipid-lowering effect. The hawthorn and konjac compound has better effects on increasing HDL-D and reducing VLDL-C. So they are beneficial to the prevention of atherosclerosis.

Purpose: To observe the therapeutic effect of acupuncture treatment for diabetes. Method:Based upon proper diet, 100 cases of patients with diabetes were treated with Pishu (BL 20), Shenshu (BL 23), Feishu (BL 13), Weiwanxiashu (Extra), Zusanli (ST 36), Sanyinjiao (SP 6), Hegu (LI 4), and Xuehai (SP 10) by electric acupuncture, with acupoints added or deducted upon syndrome differentiation.Results: Fasting blood sugar decreased in the patients after the treatments, with a significant difference (P＜0.05) in comparison with before treatment. And the patients with obvious symptoms decreased from 85% before the treatment to 4% after the treatment. Conclusions: Acupuncture treatment can reduce fasting blood sugar in the patients with diabetes and is also remarkably effective in improving the clinical symptoms.

Objective:To study the safety of gene transfection with surgical suture into rabbit's tongue muscle .Methods:pBLacZ gene was transfected into tongue muscle of rabbit by implantation of 1 cm surgical suture,which had been soaked in pBlacZ plasmid solution for overnight.The growth of the muscle cells was analyzed by flow cytometry.The adverse production of anti-double strand DNA was detected by indirect immunofluorescent assay.Result:No difference was found in the growth between gene transfected muscle cells and the controls.No anti-double strand DNA antibody was detected .Conclusion:This gene transfer system may not induce growth change and anti-double strand DNA antibody in the transfected cells.

Abdominal wall endometriosis (AWE) is defined as endometrial tissue superficial to the peritoneum. Many cases of AWE are associated with cesarean section scars. Thus, AWE is often misdiagnosed as a hernia or hematoma. The most common presentation of AWE is the development of a painful mass after uterine surgery. Many patients with AWE are associated with a previous surgical incision. Careful history and physical examination is essential to make correct diagnosis. Studies such as ultrasound, CT, MRI, and FNA are helpful. Medical treatment of AWEs is usually unsuccessful. Therefore, surgical treatment should be offered to every patient and the results usually are excellent. We performed a review of published literatures to demonstrate the pathogenesis, symptoms, diagnosis, treatment and outcomes of patients having AWE.