Neurofibromatosis type 1 is a term of Von Recklinghausenan.It is an autosomal dominant inherited disease which derived by neural crest cell.Prevalence of this disease is 1/3000 1/3500 and is a disease with the highest mutation rate.The pathogenesis of neurofibromatosis type 1 is associated with the deficiency of NF1 gene.Recently,the genetics and genomics research of neurofibromatosis make a great progress.With the development of gene linkage and position cloning technology,the gene sequence of neurofibromatosis type 1 has been found.Recent research of genetics and genomics of NF1 and the structure and function,abnormal expression,the relation of genotype and phenotype,the mutation sensitivity domain of NF1 gene were reviewed.

Background It is very important for us to understand retinal function change in the patient with diabetic mellitus in clinic. At present,the study about diabetic mellitus associated with macular edema includes fundus fluorescense angiography ( FFA) and multifocal electroretinogram ( mfERG) etc.. However, seldom research is performed in the mfERG findings for different types of diabetic macular edema. Objective This study aimed to investigate the mfERG change in different types of diabetic macular edema compared with normal population. Methods Fifty-seven eyes with diabetic macular edema from 40 patients and 35 eyes from age-and gender-matched normal subjects were enrolled in this study. The eyes with diabetic macular edema were assigned to local macular edema group (n=16) ,diffuse macular edema group (n = 22) and cystoid macular edema ( n = 17 ) based on the manifestation of FFA. MfERG was recorded in all the individuals. The informed consent was obtained from each subject prior to any the medical examination. Results In focal diabetic macular edema group,the response density of P1 wave was significantly attenuated in ring 1 , showing a statistical difference in comparison with controls (t =2. 170,P = 0.038) ,and the latencies of P1 and N1 waves showed obvious prolong in ring 4 and 5 (t = 2.519,P = 0. 017 ;t = 2. 451 ,P = 0. 020). In diffuse diabetic macular edema group,the response densities of P1 and N1 waves were declined in ring 1,3,5 and ring 1,3,4,5 respectively,and the latencies of P, in ring 3,4 were significantly delayed respectively in comparison with controls (all P < 0. 05 ). In cystoid diabetic macular edema group, the response densities of P1 and N1 waves were lowed from ring 1 through 5 respectively, and the latencies of P1 and N1 waves were significantly longer from ring 3 through 5 and ring 4 respectively with the statistically significant difference from controls (all P<0. 05). The visual function of fovea was badly damaged. Conclusion These studies indicate that the most serious damage of visual function is in foveal area in cystoid diabetic macular edema group, and is then parafoveal area of diffuse diabetic macular edema group and perifoveal area in focal diabetic macular edema group. The outcome of mfERG presents a good consistency with FFA findings in the patients with diabetic macular edema.

Objective To analyze the risk factors associated with postoperative respiratory failure (PRF) in elderly patients undergoing noncardiac surgery. Methods In a prospective randomized joint study, 582 patients conforming to the criteria established by the four medical centers were enrolled for analysis. Univariate analysis and multivariate logistic regression analysis were used to examine the relations between perioperative risk factors and PRF. PRF was defined as mechanical ventilation after operation lasting for more than 48h or reintubation and mechanical ventilation within 6h after extubation.Results Fifty-one patients developed PRF (8.8%) . Multivariate logistic regression analysis identified that the type of surgery, ASA physical status classification, history of COPD and plasma albumin upper abdominal surgery and peripheral vascular surgery. The reason that neurosurgery topped the list was that most neurosurgical patients suffered from severe head injury and postoperative mechanical ventilation was prolonged because of coma. Our study showed that physical status was also a significant predictor of PRF. According to ASA classification, one class higher increased the risk by 6.325 time s. Conclusion Based on these predictors of PRF, in high risk elderly patients necessary measures can be taken to decrease the development of PRF.

Objective To investigate the relationship between PSMA expression and histologic grading of prostatic carcinoma. Methods Different prostatic tissues and non-prostatic tumors (PCa 70,prostate intraepithelial tumor 21,BPH 20,nonprostatic malignancies 30) were analysed for the expression of PSMA by using PSMA mono-clonal antibody and ABC immunohistochemical staining. Results All prostatic tissues but 2 cases of prostatic carcinoma and 4 cases of benign prostate hyperplasia were stained positively,while all of the non-prostatic tumors were stained negatively.There was a negative correlation between PSMA expression and histologic grading of prostatic adenocarcinoma. Conclusions PSMA was prostatic organic specific and could be a prognostic marker of prostate adenocarcinoma.

Objective To explore the effects of upper limb robot-assisted therapy on motor function and activities of daily living in con-valescent stroke patients. Methods From June to September, 2016, 12 chronic stroke patients at their first-ever stroke were enrolled and ran-domized into experimental group (n=6) and control group (n=6). Both groups received routine rehabilitation. Additional robot-assisted thera-py was provided to the experimental group, and additional repetitive movement training was provided to the control group, 20 minutes a day, five days a week for four weeks. Fugl-Meyer Assessment-Upper Extremities (FMA-UE), modified Ashworth Scale (MAS) and Func-tional Independent Measure (FIM) were used to assess the motor function of the upper limbs and hands, the muscular tension of shoulder and elbow, and activities of daily living (ADL) before and after treatment. Results After treatment, the scores of FMA-UE and FIM were bet-ter in both groups (Z>2.032, P<0.05), and no significant difference was found between two groups (t<0.723, P>0.05), however, the scores were a little bit higher in the experimental group than in the control group. After treatment, for the experimental group, the MAS scores of shoulder abduction/adduction and elbow flexion/extension improved (Z>2.121, P<0.05);for the control group, the MAS scores of shoulder abduction/adduction improved (Z>2.000, P<0.05), but the MAS scores of elbow flexion/extension were not significantly different (Z<1.890,P>0.05). There was no significant difference in the MAS scores of shoulder abduction/adduction and elbow flexion/extension between two group (Z<1.734, P>0.05). The moving trail recorded by the computer, gradually became a regular pattern from the mass, saying the motor control ability became better. Conclusion Upper limb robot-assisted therapy can promote the recovery of the motor function of upper limbs and ADL in convalescent stroke patient, similar to the repetitive movement training.

Objective To analyze the pathogenesis,therapy and outcome of pediatric cases with coagulation disorders (CD).Methods All these 137 patients were diagnosed as CD with the methods of hemoglutination five items and/or disseminated intravascular coagulation indexes.Then activity of specific coagulation factors,morphology of bone marrow,hepatorenal function and some other relative tests were performed to find out the cause of CD or the primary disease.Results Forty-three cases were diagnosed as genetic CD with 29 as hemophilia A,4 as hemophilia B and 10 as Von Willebrand disease;while the other 94 patients as acquired CD with 15 as vitamin K-dependence coagulation factor deficiency,22 as hepatic dysfunction,30 as disseminated intravascular coagulation and 1 as thrombotic thrombocytopenic purpura.Genetic CD was treated with replacement therapy to reduce the complication.There was 1 case in this group died of intracranial hemorrhage.Acquired CD was treated with short-term,specific and necessary replacement therapy on the basis of reasonable treatment of primary diseases.Eleven cases died finally in this cohort with 7 cases as liver failure and the other 4 cases as terminal leukemia or lymphoma.Conclusion Pediatric patients with CD were caused by genetic or acquired diseases.In clinic the reason of CD was mainly acquired.The treatment of genetic CD is the replacement of specific coagulation factor for life-long term.The outcome dependes on the lack of degree.While the therapy for acquired CD aims at the primary disease.The principle of blood transfusion is short-term and the outcome dependes on the therapic effects of primary diseases.

Objective To preliminarily evaluate the efficacy and safety of chemotherapy on hemophagocytic lymphohistiocytosis(HLH) with hepatic dysfunction in children.Methods The children diagnosed as non-malignancy-associated HLH from Mar.2004 to Apr.2008 were selected,and the therapeutic effect was evaluated according to the HLH-04 protocol at the 8th week of chemotherapy,and the level of serum alanine aminotransferase(ALT),serum albumin(Alb) and plasma fibrinogen(Fib) were detected at pretherapy,2 weeks and 8 weeks of post-treatment.Results Altogether 60 HLH children complicated with hepatic dysfunction before chemotherapy,47 children had increased ALT,58 children had decreased Alb,and 38 children had decreased Fib.Forty-two cases(70%) were virus-associated HLH,1 case(1.7%) was fungi-associated HLH,and 17 cases(28.3%) had unknown origin.Among the 60 children,55 cases showed improvement in the 4 weeks of inductive treatment,15 cases gave up therapy,45 cases completed the 8 weeks of inductive treatment according to the protocol(among these children,42 cases had no active disease,3 cases had active disease),and these 45 children had obviously improved ALT,Alb and Fib at 2 weeks and 8 weeks of post-treatment,compared with pretherapy,the differences had statistical significance(Pa

Diabetic retinopathy is a major cause of blindness all over the world, and it is one of the most serious and common microvascular complications of diabetes. Breakdown of the endothelial blood - retinal barrier ( BRB ) , as occurs in diabetic retinopathy, result in vasogenic edema and neural tissue damage, causing loss of vision. The inner BRB is created by complex tight juctions of retinal capillary endothelial cells, this barrier prevents the free diffusion of substances between the circulating blood and the neural retinal, the inner BRB efficiently supplies nutrients to the retinal and removes endobiotics and xenobiotics from the retina to maintain a constant milieu in the neural retina. The central mechanism of altered inner BRB function is a change in the permeability characteristics of retinal endothelial cells caused by elevated levels of cytokines, growth factors, advanced glycation end products, inflammation, hyperglycema and loss of pericytes. This article reviews the relationship between diabetes and the ultrastructure changes of BRB.

Objective To establish the early warning model based on the control chart method for hand,foot and mouth disease (HFMD) in Wuchang District and to determine the optimum alarming threshold to provide the data support for HFMD monitoring work.Methods The data of HFMD in Wuchang District during 2009-2014 were collected from the National Infectious Diseases Notification System for constructing the data base.The mobile percentile method was adopted to establish the early alarming model,which was evaluated by the screening test.The sensitivity,specificity,positive predictive value and negative predictive value were calculated.Then the receiver operating characteristic (ROC) curve was drawn and the optimum alarming threshold was found out.Results The early alarming threshold of HFMD in Wuchang District was P90,its sensitivity,specificity,positive predictive value and negative predictive value were 75.00％,93.88％,50.00％ and 97.87％,respectively.Conclusion Determining the early warning threshold should be optimized according to onset characteristics combining with the local epidemic situation,which pays attention to regional specificity and increases the monitoring ability of infectious diseases.