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.

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.

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 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.

Objective To develop a kind of tongue image analysis instrument which is used to deal with the deviation problem on the process of tongue image analysis currently. Methods The system included two parts:hardware and software. The hardware was made up of special tongue image acquisition device and computer. With the application of digital image analysis technology, the instrument implements functions such as tongue image collection, image preprocess, image segmentation and feature analysis. Results After a certain amount of sample study process, the accuracy of tongue shape recognition was about 90%. Conclusion This instrument can achieve the aim of tongue information objectification and are widely used for clinical medicine and teaching.

Heavy chain antibodies (HcAb) without light chains are naturally produced by camelids.The single domain antigen-binding fragment of HcAb is referred to as VHH or nanobody (Nb),which is the smallest antigen-binding entity at present.Several characteristics such as low molecular weight,high stability,and low immunogenicity make the use of nanobodies superior to the conventional antibodies.Currently,nanobodies are highly valuable antibodies for various applications,including fundamental research,diagnostics,and therapeutics.A variety of nanobodies are investigated in clinical researches.The recent progresses of heterologous expression of nanobodies in seven expression systems,including Gram-negative and positive bacteria,yeasts,filamentous fungi,insect cells,mammalian cells and plant cells were focused on,and the expression systems,hosts,characteristics of vectors,construction of vectors and yield of nanobodies were summarized.The strategies to increase the yield of nanobodies are discussed from molecular level,expression level and rational design.

Objective To explore the diagnostic value of serum ischemia‐modified albumin (IMA) ,lipoprotein‐associated phos‐pholipase A2 (Lp‐PLA2) and cardiac troponin I (cTnI) in acute coronary syndrome (ACS) .Methods The levels of serum IMA , Lp‐PLA2 and cTnI were detected in 138 cases of ACS ,including 79 cases of acute myocardial infarction (AMI) ,59 cases of unstable angina pectoris (UAP) ,and the detection results were compared with those in 50 individuals undergoing physical examination(con‐trol group) .The levels of serum IMA ,Lp‐PLA2 and cTnI were compared among various groups .The receiver characteristic curve (ROC) was drawn to evaluate the diagnostic value of IMA ,Lp‐PLA2 and cTnI in ACS .Results The levels of serum IMA ,Lp‐PLA2 and cTnI in patients with UAP and AMI were higher than those in the healthy control group ,and there was statistical differ‐ence between them(t=7 .286 ,8 .589 ,8 .952 ,P<0 .01) .Comparing with the UAP group ,the levels of serum IMA ,Lp‐PLA2 and cTnI in the AMI group were significantly increased(t=4 .063 ,5 .987 ,2 .062 ,P<0 .05) .In the ROC curve analysis ,the area under ROC curve (AUC) of IMA ,Lp‐PLA2 and cTnI were 0 .821 ,0 .843 and 0 .852 respectively .Conclusion The levels of serum IMA , Lp‐PLA2 and cTnI can be used for monitoring and early diagnosis of ACS .