Adult ; Diagnostic Tests, Routine ; Female ; Hearing Loss, Sensorineural ; Humans ; Pedigree ; Thrombocytopenia ; diagnosis ; genetics

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.

Bipolar disorder(BD)is a serious mood disorder with high prevalence,morbidity and mortality rates. Glycogen synthase kinase-3β(GSK-3β) is a multifunctional serine/threonine protein kinase that is generally located in eukaryotic cells with such functions as the adjustment of the synthe?sis of glycogen metabolism,cell proliferation and differentiation and gene expression. It is involved in multiple signaling pathways and regulates cell signaling proteins,structural proteins and transcription factors through phosphorylation,affecting the survival of the neurons and plasticity. According to gene poly?morphism and clinical studies,GSK-3β may be associated with BD. As a GSK-3β inhibitor,lithium is an effective BD therapeutic drug,and the small molecule inhibitor targeting GSK-3βis also a hotspot of BD treatment. GSK-3βmay be a potential target in the treatment of BD.

Objective To investigate the effects of the intracellular delivery of HPV16E7_(49-57) epi- tope modified by cell-penetrating peptide HIV-Tat_(49-57) and its influential factors.Methods The unique HLA-A2+/H-2kb+ limited CTL epitope of HPV16E7 fused with a cell-penetrating sequence (HIV-Tat_(49-57)) was designed and a 18-mer peptide was synthesized with aid of polypeptide solid phase synthesis technique. The intracellular transport capabilities of these peptides were tested with indirect immunofluorescence assay and laser confocal microscopy.In addition,the CTL epitope and 18-met peptide were used to stimulate PBMC of healthy C57BL/6 mice,and the E7_(49-57) specific CTL responses were measured by LDH cytotoxicity detection kit in PBMC of those mice.Results The HIV-Tat_(49-57) peptide could efficiently assist HPV 16E7_(49-57) peptide in penetrating into BHK cells in a time and dose-dependent manner (P＜0.05).Further- more,the specific CTL activity induced by the 18-mer peptide was much stronger than that induced by the single epitope.Conclusion The results show that HIV-Tat_(49-57) can efficiently deliver the exogenous anti- genic peptide into the cytoplasm of live cells,and induce specific CTL response.This is a new way to de- sign peptide-based vaccine of HPV.

Objective To explore the effects of regularly and alternately using urokinase thrombolysis on patency of long-term catheter hemodialysis patients.Methods Totals of 23 patients with cuffed long-term catheters were selected and two methods were used to thrombolytisis: urokinase intracatheter instillation and urokinase was persistently pumped into vein with a microscale.After succeed thrombolytic,two methods were regularly and alternately used,and the effects of patency was observed.Results Twenty-two patients were succeed among 23 patients after received thrombolysis,and no patient happened errhysis,hemorrhage and other complications.22 patients' s cuffed-catheters were keep patency and average utilization was up to(15.0 ±4.7)months.Conclusions It is necessary to adopt regularly and alternately urokinase thrombolytic therapy for hemodialysis patients that easily forming thrombus for long-term catheter,which has a better effects on keep catheter patency.

OBJECTIVE Toexploretheantidepressanteffectsofalbiflorinandtheinvolvementof hypothalamic-pituitary-adrenocortical (HPA) axis function in its antidepressant potency.METHODS Two weeks after the olfactory bulbectomized (OB)surgery,albiflorin (2.5 ,5.0 ,10.0 mg·kg -1 ,ig) and imipramine 5.0 mg·kg -1 (ig)were given to rats twice a day for 14 d.The open-field test was con-ducted to evaluate the move ment distance,move ment ti me and velocity of olfactory bulbecto mized rats and sham-operated rats.The serum levels of corticosterone(CORT)and adrenocorticotropic hormone (ACTH)in rats were measured by the enzyme linked immunosorbent assay.The expression levels of glucocorticoids receptor (GR)in the hippocampus of the rats were analyzed using Western blot proce-dures.RESULTS Comparedwithsham-operatedrats,movementdistance,movementtimeandveloci-ty of the OB rats were significantly increased (P<0.01 ).Albiflorin 1 0.0 mg·kg -1 significantly reduced the movement distance,movement time and velocity of OB rats (P<0.05)after being given for 7 d. The movement properties were significantly reduced by albiflorin 5.0 and 10.0 mg·kg -1 when given for 14 d (P<0.05).The OB rats demonstrated significantly increased levels of serum CORT and ACTH (P<0.01 )and decreased GR expression in the hippocampus (P<0.01 ).Albiflorin 2.5,5.0 and 10.0 mg·kg -1 significantly reduced the serum CORT and ACTH levels (P<0.05),while albiflorin 5.0 and10.0mg·kg-1increasedtheexpressionofhippocampalGR(P<0.05).CONCLUSION Albiflorin may have re markable behavioral antidepressant effects on olfactory rats and one of the related mecha-nis ms may be its regulation of the hyperactivity of HPA axis function.

ObjectiveTo prospectively compare the effects of Prestige LP cervical disc replacement with those of anterior cervical discectomy and fusion (ACDF) in treatment of cervical disc herniation.MethodsFrom January 2008 to March 2010,a total of 87 patients were enrolled at our site as study investigating ACDF versus Prestige LP cervical disc prosthesis.Forty-four patients received the investigational device (arthroplasty group) and 43 underwent a single-level ACDF (fusion group).Visual analogue scale(VAS) neck/arm pain,Japanese Orthopedics Association (JOA) score,Short Form-36 (SF-36) both physical and mental,flexion-extension range of motion of operative and adjacent segments were evaluated preoperatively and 1 week and 3,6,12,24 months postoperatively.ResultsA total of 78 patients (89.7％) were followed up for an average 12.4 months(range,6-24).Both groups have favorably demonstrated improved functional outcomes for JOA,VAS scores and SF-36.The improvement in the VAS and JOA scores were equivalent at each follow-up point between the two groups(P＞0.05).However,arthroplasty group had statistically significant improvement as assessed by the SF-36 scores compared with the fusion group at some follow-up points (P＜0.05).In arthroplasty group,the postoperative range of motion of operative and adjacent segments showed no statistical difference with the preoperative counterpart(P＞0.05),and fusion was successful in 92.1％ of control patients.ConclusionPrestige LP cervical disc replacement is a feasible alternative to ACDF for patients with persistently symptomatic cervical disc disease and matching the inclusion criteria.

Animals ; Cyclin-Dependent Kinase 5 ; metabolism ; Ethanol ; adverse effects ; Female ; Hippocampus ; drug effects ; metabolism ; Learning ; drug effects ; Male ; Memory ; drug effects ; Pregnancy ; Prenatal Exposure Delayed Effects ; metabolism ; physiopathology ; Rats

This study investigated the protective effect of EGB761 on blood vessels of denervated gastrocnemius of rat and its possible mechanism. Fifteen male adult SD rats were randomly divided into three groups: normal control group (n=3), control group (n=6) and EGB761-treated group (n=6). The rats in the control and EGB761-treated group underwent a neurotomy to bilateral sciatic nerves. Then, they were administered EGB761 [100 mg/(kg·d)] and isovolumic normal saline, respectively by gavage everyday. No treatment was given to the rats in the normal control group. Gastrocnemius was harvested at 1 and 3 week(s) postoperatively in each group. Immunohistochemical method was used to detect the ratio of capillary/fiber (CFR) of denervated gastrocnemius and the expression of VEGF, fetal liver kinase -1(Flk-1) receptor and HSP70 in the vascular wall. The results showed that in the normal control group, VEGF, Flk-1 and HSP70 were expressed in the vessel wall of gastrocnemius, with Flk-1 expressed only in the endothelial cell of vessels. CFR in the EGB761-treated group was significantly higher than that in the control group at 1 week and 3 week(s) after neurotomy. The expression of VEGF and Flk-1 in the vessel wall of both control and EGB761-treated group was much lower than that in the normal control group, and the expression of these proteins in the EGB761-treated group was decreased as compared with that in the control group. The expression of HSP70 in the vessel wall of both control and EGB761-treated groups was enhanced when compared with that in the normal control group, and it was substantially augmented in the EGB761-treated group in comparison to the control group. It was concluded that EGB761 has a protective effect on blood vessels of denervated gastrocnemius, which is related to the increased HSP70 expression but not the expression of VEGF and its receptor Flk-1.

Objective To evaluate the clinical feasibility of localization CT enhanced image replacing plain CT scan image for target delineation and dose calculation.Methods Forty cases of NPC were collected and divided into two groups with different concentrations of contrast agents.The contours of planning target volume (PTV) and organs at risk (OARs) of each case were delineated in the plain scan image,and the contours of PTV and OARs were copied to the enhanced image.Two plans based on the plain scan image and the enhanced image were designed in the planning system of Eclipse.The dose distribution and OARs and MU were compared between the groups.Results No statistical differences were found in the dosimetry of PTV,OARs and MU (P＞0.05).Conclusion The image intensifier has little effect on the dose calculation of Eclipse for NPC.In the radiotherapy for NPC,the localization CT enhanced image can be used to replace the plain CT scan image for target delineation and dose calculation.