Adolescent ; Humans ; Male ; Neurofibromatosis 1 ; Neurofibromatosis 2

Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.

ATM: To define the causes of corneal endothelial cell damage, to investigate the preventive methods, and to observe the variety of corneal endothelial cell in glaucoma using confocal microscope.
METHODS: Totally, 143 eyes of 97 patients with different types of glaucoma, and matched normal people were 20 cases, all 40 eyes. The cell density, cell area and cell variable coefficient were measured used confocal microscope. These indicatives of every kind of glaucoma were compared.
RESULTS: The corneal endothelial cell density of normal group was 2 893. 88±255. 026/mm2 , the group of acute angle-closure glaucoma ( AACG ) was 1 674. 11±683.95/mm2 , and the group of open angle glaucoma (OAG) was 2687. 22±391. 87/mm2, the group of chronic angle-closure glaucoma (CACG) was 2706. 97±351. 27/mm2. In all index the average cell density of corneal endothelial and the average area have statistical significance ( F =62.950, 8. 795;P=0. 000), especially the group of AACG.CONCLUSION: The index of corneal endothelial cell in AACG is lower than that of normal. All index in OAG and CACG is difference with that of normal, but the difference has no statistical significance. And the dominant factor of damaged corneal endothelial is the time of intraocular hypertension.

Objectives To search for the pathogenesis of vaseular endothelial injury and its clinical significance.Methods 36 patients with acute lower respiratory trect infection(ALRI)and 30 healthy controls were envolved. Circulating endothelial cells (CEC)and nitric oxide (NO) levels were tested.Results Circulating nitrite/nitra levels,the stable metabolic products of NO,were found to be significantly higher in the patients with ALRI (44.6?22.6umol/L) than that in the controls (24.5?14.1umoI /L, P

The aim of this article was to investigate the mechanisms of emodin in antagonizing against organ fibrosis, and to illustrate that emodin can be an effective Chinese herbal preparation for treatment of organ fibrosis.
Animals ; Emodin ; therapeutic use ; Fibrosis ; drug therapy ; Glomerulosclerosis, Focal Segmental ; drug therapy ; etiology ; Humans ; Kidney ; metabolism ; pathology ; Liver Cirrhosis ; drug therapy ; Phytotherapy ; Pulmonary Fibrosis ; drug therapy

Objective To investigate the curative effect of percutaneous transhepatic cholangial drainage(PTCD) on patients with non-anastomotic stricture after liver transplantation when treated with endoscopic retrograde cholangio-pancreatography(ERCP) unsuccessfully.Method The clinical data of 29 patients with non-anastomotic biliary stricture after liver transplantation were retrospectively analyzed,who failed to respond to ERCP and underwent PTCD from January 2005 to December 2007.Result All patients were performed PTCD successfully including cholangiography in 141 cases,drainage tube replacement in 115 cases,and balloon dilation of bile duct stricture in 39cases.The intubation time ranged from 2 months to 65 months.The mean levels (x ± SD) of alanine aminotransferase,aspartate aminotransferase and total bilirubin were 68.0 ± 29.1 U/L,52.6 ± 34.8 U/L,63.2 ± 33.3 μmol/L after treatment in comparison to 178.3 ± 63.3 U/L,144.0 ± 59.1 U/L,154.2 ± 92.0 μmol/L before treatment.Conclusion PTCD,which could improve the symptoms and prolong the survival time of both grafts and patients in spite of inconvenience of intubation,is suggested for patients with non-anastomotic biliary stricture if they are not suitable for liver retransplantation.

Objective:To analyze the relationship between hepatitis B virus(HBV)gene mutation at 1896 in precore region with genotype and replication of HBV and the liver function of patients.Methods:HBV precore 1896 site mutation,the genotype of HBV and serum content of HBV DNA were determined by PCR in 60 patients positive of HBV DNA.Chemiluminescence miacropaticle immunoassay(CMIA)was used for detection of serum HBeAg and HBeAb.Liver function parameters were ob- tained by routine biochemistry method.Results:The alanine aminotransferase(ALT)level in HBV with 1896 site mutation was significantly higher than that in the wildtype virus.Site mutation at 1896 had no correlation with HBeAg,HBV genotype and HBV DNA content.HBV DNA content in patient with genotype C was significantly higher than that with genotype B(P

Objective To observe the effect of intensive scapular control training on pain, upper limb motor function and activities of daily living (ADL) in patients with post-stroke shoulder pain. Methods 58 patients with hemiplegia after stroke were randomly assigned into routine exercise group (group A, n=27) and intensive scapular control training group (group B, n=31). They were assessed with visual analogue scale for pain, simplified Fugl-Meyer Assessment and modified Bathel Index before and 8 weeks after treatment. Results All the assessment appeared better in group B than in group A after treatment (P<0.05). Conclusion Intensive scapular control training can promote the recovery of motor function and ADL, relieve the pain in patients with post-stroke shoulder pain.

Objective:To investigate the mediating roles of perceived social support and relative deprivation in the relationships between life events and Internet addiction among Chinese college students.Methods:Totally 413 college students (200 males and 213 females,aged 16-21 years),completed the Relative Deprivation Questionnaire,Adolescent Self-Rating Life Events Check List,Perceived Social Support Scale and Chinese Internet Addiction Scale Revised to measure the level of relative deprivation,life events,perceived social support and Internet addiction.The Bollen-Stine of structural equation modeling and Bootstrap were used to test the mediating effect of perceived social support and relative deprivation on the relationship between life events and Internet addiction.Results:The scores of PSSS were negatively correlated with the scores of ASLEC,RDQ,and CIAS-R (r=0.11-0.36,Ps ＜0.05).The scores of ASLEC,RDQ,and CIAS-R were positively correlated with each other (r=0.14-0.23,Ps ＜ 0.01).Path analyses showed that the ASLEC scores were not associated with the CIAS-R scores directly (β =0.11,P ＞0.05),but indirectly through the mediating roles of the scores of PSSS and RDQ and the chain mediating effect of them among Chinese college students.The structural equation model could be accepted by Bollen-Stine Bootstrap (P ＜0.01).The confidence interval from Bootstrap output of the mediating effects of the scores of PSSS and RDQ and the chain mediating effect of them were (0.010,0.103),(0.002,0.032) and (0.005,0.061) respectively.Conclusion:It suggests that life events could not directly affect Internet addiction,but indirectly lead to Internet addiction through reducing perceived social support and increasing relative deprivation.

Objective To evaluate the pharmacokinetics and pharmacodynamics of bupivacaine polylactic acid microspheres in rabbits. Methods Sixteen New Zealand rabbits weighing (2.58?0.17) kg were randomly divided into two groups:in group A a bolus of bupivacaine solution 5 mg?kg-1 was injected subcutaneously, in group B a bolus of bupivacaine polylactic acid microspheres 5 mg ? kg-1 was implanted in subcutaneous tissue. Blood samples were obtained for determination of plasma bupivacaine concentration at 5,10,20,30,45 min and 1,2,3,4, 6,8,12,24h after subcutaneous injection in group A and at 0.5,1,2,3,4,5,6,8,12,24,36,48 and 60 h after subcutaneous implantation in group B. Pharmacodynamics study was conducted using a model evaluating the efficacy of regional anesthesia by skin incision and needle pricking. Results In group A plasma bupivacaine concentration peaked quickly at about 0. 34h after subcutaneous injection, then quickly declined and became indetectable in plasma within 12 h. In group B plasma bupivacaine concentration reached a peak much slowly at about 13h after subcutaneous implantation. Cmax was 0.7781 ? 0.3573 ?g?ml-1 significantly lower than that in group A [Cmax = (2.4664 ? 0.7822) ?g?ml-1 ] . The mean retention time (MRT) was 25.2667 ? 2.4857 h, significantly longer than that in group A [MRT= (5.5580 ? 1.3843)h] . Pharmacodynamic study showed that the duration of regional sensory block was significantly longer in group B than that in group A( P