Stiff-person syndrome(SPS) is a rare neurologic disorder with autoimmune features.It is characterized by progressive,severe muscle rigidity or stiffness most prominently affecting the spine and lower extremities.It is frequently associated with diabetes and other autoimmune diseases.The diagnosis of SPS is based on clinical grounds,however,aided by electromyography and high serum titers of antibodies against glutamic acid decarboxylase.Intravenous immunoglobulin infusions,plasmapheresis and steroids provide additional and lasting benefit.Moreover,benzodiazepines,baclofen,tiagabine and botulinum toxin A can afford symptomatic relief.

Objective To explore the expression of breast cancer susceptibility gene 1 (BRCA1) in human colorectal cancer and its correlation with the efficacy of platinum-based chemotherapy.Methods Seventy-eight cases of colorectal cancer patients treated with platinum-based chemotherapy after surgery were collected.The surgical specimens of them were taken.Fourteen normal colonic mucosa specimens and 12 non-cancerous tissues of colorectal cancer specimens were obtained.The expression of BRCA1 in tissues was detected by immunohistochemistry and analyzed by x2 test.The colorectal cancer patients were followed up for survival time.Comparison of survival analysis was performed by Kaplan-Meier survival curves and Log-rank test.Results The positive rate of the BRCA1 expression in colorectal cancer tissue (52.6 ％,41/78) was lower than that of para-cancer tissue (11/12,x2 =6.518,P=0.011) and normal colonic mucosa tissue (13/14,x2 =7.949,P=0.005).The poorer the differentiation of colorectal cancer,the lower the positive rate of BRCA1 (x2=14.160,P=0.001).The median disease-free survival time of BRCA1 negative colorectal cancer patients was 51.0 months (95 ％ CI:47.7 to 54.4 months),which was longer than that of BRCA1 positive patients (45.0 months,95 ％CI:36.6 to 53.4 months,x2 =4.367,P=0.032).Conclusions Receiving oxaliplatin based chemotherapy may be a survival benefit for BRCA1 negative colorectal cancer patients.The expression of BRCA1 may be an index for chemotherapy options and prognosis evaluation for colorectal cancer patients after surgery.

Objective:To observe the effect of the proteininhibitor of activated STAT 3 (PIAS3) on the proliferation and apopto-sis of U251 glioma cells after PIAS3 expression was inhibited by RNAi. Methods: Three RNAi expression vectorstargeting PIAS3 were constructed and transfected into CHG-5 cells by liposomein vitro. The most efficient RNAi vector was subsequently selected by examiningthe mRNA expressions of PIAS3 in the transfected cells by semi-quantitativeRT-PCR. The selected RNAi vector was then transfected into U251 cells. After 48h of transfection, the mRNA and protein expressions of PIAS3 in glioma cellswere examined by semi-quantitative RT-PCR and western blot. Apoptosis wasobserved by flow cytometry using a double-staining method with FITC-con-jugatedannexin V and PI. Flow cytometry was also applied in cell cycle assay. Results:RNAidownregulated the mRNA (P<0.01) and protein (P<0.01) expressionsof PIAS3 in transfected cells.RNAi promoted the resistance of U251 cells to apoptosisand subsequently al-tered the cell cycle. A high percentage of G2 phaseand a low percentage of Sphase were observed in U251 cells. Conclusion:The down-regulation of PIAS3arrested U251 cells in the G2 phase andinduced the resistance of U251 cells to apoptosis.

Objective Neonatal hypoglycemia is a common metabolic disease during neonatal period and a few children with neonatal hypoglycemiamay show a series of neurologic impairment.This study was to explore the neurobehavioral development of preschool children with neonatal hypoglycemia.Methods 37 children with neonatal hypoglycemia in Neonate Department of Anhui Provincal Children's Hospital from March 2009 to May 2013 were investigated by Chinese Preschool-Children Temperament Scale and Conners Symptoms Questionnaire for Parents, together with the information collection of perinatal period, clinical data and family environment.At the same time 50 controls were randomly chosed of the same period.Results The children of hypoglycemia group and control group were mainly with easy temperament and inclined easy temperament.In the nine dimensions of temperament, there was statistical difference in approach-withdraw between two groups (P<0.05).The incidence of behavioral problem in hypoglycemia group is 24%, involving learning problem and psychophysical problem, and there were statistical difference between two groups in this aspect (P<0.05).Conclusion Neonatal hypoglycemia affects the neurobehavioral development of preschool children.Individualized treatment and education intervention should be taken according to the children's temperament and neurobehavioral development.

Objective To determine the relationship between normal weight obesity (NOW) and cardiovascular risk factors.MethodsA total of 940 adults who received a health examination in out hospital were recruited in a cross-sectional study,and 407 with a body mass index (BMI) of18.5 to 25 kg/m2were enrolled for further analysis.Body fat percentage ( BF％ ) was measured by bioelectrical impedance analysis (BIA),and the subjects were assigned to the NOW group ( BF％ ≥25％ for male or BF％ ≥35％for female) or the control group ( BF％ ＜ 25％ for male or BF％ ＜ 35％ for female).Cardiovascular risk factors and their detection rates were compared between the two groups by using independent sample t test and x2 test.The correlationbetweenNOW and cardiovascular risk factors was assessedbylogistic regression.Results The prevalence of NOW in men and women were13.1％ and14.9％,respectively.The prevalence of NOW was increased with age ( x2 =6.90,P ＜0.05 ).Systolic blood pressure (SBP),diastolic blood pressure ( DBP ),total cholesterol ( TC ),triglycerides ( TG ),low-density lipoprotein cholesterol ( LDL-C) and serum uric acid (SUA) were significantly increased in the NOW group (t values were 2.97,2.44,2.54,5.09,2.71and 3.91,respectively; all P ＜ 0.05 ) ; whereas high-density lipoprotein cholesterol ( HDL-C) was significantly decreased in the NOW group (t =-3.90,P ＜ 0.05 ).The prevalence of hypertension,hyperglycemia,high triglyceride,low HDL-C,dyslipidmia and hyperuricemia was increased in the NOW group in comparison with the control group ( x2 values were 6.76,5.58,14.50,11.97,10.97 and 8.76,respectively;allP＜ 0.05 ).LogisticregressionshowedNOWincreasedtheriskof hypertension,hyperglycemia,dyslipidmia or hyperuricemia by 2.186,2.120,2.088 or 4.175 times.After adjustment for age and gender,the risk for hyperuricemia was decreased to 3.491,but remained statistically significant higher.Conclusions NOW may be correlated with cardiovascular risk factors,and those with NOW could be at higher risk for cardiovascular diseases.

Objective To explore the indication,surgical procedure and the postoperative treatment of breast conserving modified radical mastectomy for early stage breast cancer .Methods The clinical data of 21 patients with early stage breast cancer underwent breast conserving modified radical mastectomy were analyzed retrospectively. Results All patient recovered uneventfully. All the external configuration of the breast were fine. There were no recurrence and no complications in this series. Conclusions The breast conserving modified radical mastectomy is recommended for the early stage breast cancer. The external configuration of breast is fine postoperatively, and patients have higher survival quality.But follow up is necessary in order to find and treat the recurrence of breast cancer.

Objective To investigate the role of oxidative stress in the epithelial-to-mesenchymal transdifferentiation (EMT) of peritoneal mesothelial cells in rat model of peritoneal fibrosis and the effect of probucol on peritoneal fibrosis. Methods The rat model of peritoneal fibrosis was induced by 4.25% high glucose peritoneal dialysis fluid (PDF). The rats were randomly divided into 4 groups:the control group, the saline group, the peritoneal fibrosis group, and the probucol group. A 4 hour peritoneal equilibration test (PET) was performed 4 weeks later. The peritoneal function and net ultrafiltration (UF) volume were determined. The level of malondialdehyde (MDA) and glutathione peroxidase (GSH-Px) in peritoneal tissue were examined. The histology of peritoneal membrane was evaluated by light microscopy. E-cadherin and α-smooth muscle actin (α-SMA) protein expression was evaluated by immunohistochemical method and Western blot.Results The mesothelial cells were detached from peritoneal membrane in peritoneal firbosis rats. Comparing with the control rats, the thickness of visceral peritoneum, the level of MDA, and the-SMA protein expression were increased while the net ultrafiltration volume, the level of GSH-Px and E-cadherin protein expression were decreased in peritoneal firbosis rats. All these changes were reversed in the rats treated with probucol.Conclusion Oxidative stress plays an important role in transdifferentiation of peritoneal mesothelial cell in the peritoneal fibrosis rats. Probucol can improve structure and function of peritoneum, and partially reverse the EMT by reducing the oxidative stress.

Objective To observe the effect of superficial radial nerve transplanting to repair musculospiral nerve defection and using end-to-side neurorrhaphy to reconstruct the function of the donor site. Methods Thirtyfour cases underwent superficial radial nerve transplanting to repair musculospiral nerve defection and end-to-side neurorrhaphy was performed to reconstruct the function of the donor site. Results All cases were followed-up for 6 to 18 months,the functional recovery of the recipient of musculospiral nerve was excellent in 23 cases and good in 5 cases,with an excellent and good rate of 82. 53 %. Sensory recovery of donator nerve was excellent in 27 cases and good in 5 cases,with an excellent and good rate of 94. 12%. Conclusions Superficial radial nerve transplanting to repair musculospiral nerve defection and functional reconstruction of donor site is a better choice in treating neurologic defect.

Objective To investigate the effect of in vitro high glucose stimulation on the expression of adiponectin receptor (adipoR) in human kidney proximal tubular cells.Methods The HK-2 cells were cultured in the low glucose DMEM culture medium containing 10% fetal bovine serum until the cells were adherent and 80% confluence. After cultured in the serum-free DMEM for 24 hours, these cells were stimulated with glucose-containing 1mg/ml, 2mg/ml, 4mg / ml, 6mg/ml, 8mg/ml serum-free DMEM for 48 hours. Then RT-PCR and western blot were used to analyze adipoR ( R1, R2) expression levels. The HK-2 cells were cultured respectively in high glucose (4mg/ml) , low glucose (1mg/ml) DMEM culture medium containing 10% fetal bovine serum to cultivate 0h, 12h, 24h, 48h, 72h, 96h, then RT - PCR was applied to analyze adipoR (R1, R2) mRNA expression levels semi-quantitatively. Results Two kinds of adiponectin receptor gene were both expressed in HK-2 cells, and the quantity of gene expression of adipoR1 (0. 63 ±0. 12) was 3. 9 times to adipoR2 (0. 16 ±0.03) , the difference was statistically significant ( P<0. 01). The different concentrations of glucose and different time of high glucose on HK-2 cells had no significant effect ( P>0. 05 ) on adipoR gene expression. Expression of adipoR 1 protein in HK-2 cells was detected by western blot, and it was not affected by glucose concentration ( P>0. 05).Conclusion adi-poR1 and adipoR2 gene were both expressed in HK-2 cells, and the adipoR1 was the major one, which suggested that adipoR1 played a more significant role in kidney disease. The expression of adipoRl/R2 of HK-2 cells was not affected by high glucose concentration.

Objective To investigate the electrophysiological characteristics of atrial tachycardia (AT) originating from the side of the bundle of His, and to analyze the efficacy and safety of transcatheter radiofrequency ablation via the right side of the bundle of His and left noncoronary sinus of aorta for the treatment of AT. Methods A total of 12 patients with AT originating from the side the bundle of His, which was confirmed by conventional electrophysiological study and atrial activation patterns, were included in this study. The patient’s age ranged from 12 to 64 years old with a mean of (47.4±14.6) years. The mapping was carried out at the right side of the bundle of His and radiofrequency ablation was performed. When the ablation procedure failed, or the junction zone rhythm or atrioventricular block occurred, ablation via the left noncoronary sinus of aorta was employed. Results Atrial stimulation could repeatedly induce and terminate AT in all the 12 patients, the average cycle length was (327±76) ms. TA was terminated within 10 seconds after the start of ablation in 10 patients during their AT attacks. Ablation was unsuccessful in 2 patients. Ablation via the right side of His bundle was successfully accomplished in 2 patients, and the ablation via the left noncoronary sinus of aorta was successfully carried out in 8 patients. The average follow-up time was 1-6 years, and no recurrence of AT was observed. Conclusion Atrial tachycardia originating from the side of the bundle of His has certain electrophysiological characteristics, and transcatheter radiofrequency ablation is safe and effective for its treatment. Ablation via the left noncoronary sinus of aorta should be considered as a strategy of priority.