Hemophilia B is an X chromosome linked hereditary hemorrhagic disease, which is caused by the lose function mutation of factor IX (FIX), and significantly affects the patients' lifespan and life quality. The severity of hemophilia B depends on the FIX level in the plasma. By referring to the relevant literatures, we reviewed and summarized hemophilia B replacement therapies. Specifically, we focus on recombinant factor IX products on the market and those in the pipeline, especially on the long-acting factor IX drugs, to provide the basis for researches of new hemophilia B drugs.
Factor IX ; genetics ; therapeutic use ; Hemophilia B ; drug therapy ; Humans ; Mutation ; Recombinant Proteins ; therapeutic use

Objective To discuss the expression and its significance of neuron specific enolase(NSE) and soluble-protein 100(S100) in Hirschsprung′s disease(HD) and its allied disease.Methods Clinicopathologic data were reviewed from 120 cases of suspected HD patients.According to the morphological characteristic of the nerve stanza cell stained with HE under the microscope.NSE and S100 immunohistochemical staining was performed in 29 cases.Then we compared the effect of the staining with analyzed the distribution.Results The number of the nerve plexus and ganglion cell of allied HD was significantly higher than that in normal control group(P

Objective To investigate the technique and outcome of primary management of skull base fracture and cerebrospinal fluid (CSF) leakage by emergency surgery in patients with severe craniocerebral trauma. Methods A total of 16 patients with severe brain injury, skull base fracture and CSF leakage hospitalized in Department of Neurosurgery, Tianjin Medical University General Hospital from January 2014 to December 2015 were retrospectively analyzed. All of patients underwent emergency surgery to remove the hematoma and repair the skull base fracture, including anterior skull base repair in 12 patients and middle temporal skull base repair in 4 patients. During the surgery, the inner wall of the frontal sinus was managed by electrocautery, then removal of frontal sinus mucosa, hydrogen peroxide and iodophor rinse were used. The repairing and forming of the orbital roof were performed for the severe deformation cases. All bone fractures and fissures were filled with muscle blocks and biological glue and covered with a pedicled muscle flap. In addition, after close suturing of epidural, the intact periosteum under the skin flap was used to tile the skull base. No external material was used in the whole process. Results Among the 16 patients, 14 (87.5%) patients were successfully repaired by emergency surgery, and 2 cases (12.5%) failed. One of the patients who failed to repair the fracture was with the middle skull base fracture, severe fracture of skull base and mastoid, and extensive exposure of mastoid air chamber with large bone mass. This patient failed secondary surgical repair and died with severe infection. Another one case who failed primary surgery was with severe bone fractures in the anterior, middle and posterior skull base, which could not be completely repaired. This patient was also combined with infection and dead ultimately. Conclusion Primary repair in patient with severe head injury combined with skull base fracture, which needs surgical intervention can reduce further injury and save the patient's life. The key to the operation is to determine the operative principle and to repair the skull base tightly.

Objective: To study the chemical constituents in the twigs and leaves of Rhododendron fortunei. Methods: The ethyl acetate fraction of 95% ethanol extract from R. fortunei was separated and purified by silica gel and Sephadex LH-20 column chromatography. The structures of the compounds were identified by physicochemical properties and various spectroscopic methods. Results: Twelve compounds were isolated as kaempferol 3-O-α-L-rhamnopyranoside (1), quercitrin (2), myricetin-3-O-α-Lrhamnoside (3), trans-caffeic acid (4), cis-caffeic acid (5), (2R, 3S)-6, 8-di-C-methyldihydrokaempferol (6), fraxetol (7), protocatechuic acid (8), quercetin (9), kaempferol (10), myricetin (11), and grayanotoxin I (12). Conclusion: All the compounds are isolated from the twigs and leaves of R. fortunei for the first time. Compounds 1-8 and 10 are isolated from the plants of Rhododendron L. for the first time, and compounds 3-7 are isolated from the plants in Ericaceae for the first time.

Objective To observe the changes of chamber angle after phacoemulsification and goniosynechialysis(Phaco-GSL) for primary angle-closure glaucoma(PACG) with cataract,and evaluate the therapeutic effect of Phaco-GSL on PACG.Methods Fifty patients(50 eyes) with PACG and cataract were treated in our hospital,and peripheral anterior synechiae(PAS) of all their affected eyes was over 180 degrees.By single blind method,they were randomly divided into Phaco-GSL treated group(treatment group) and single phacoemulsification group(control group).The chamber angles were checked with gonioscopy 1 and 3 months after operation,and intraocular pressure(IOP) of 50 eyes was examined 1 week,1 and 3 months after operation.Results ①In group A,the rate that chamber angles reopened were over 180 degrees was 100%,and the chamber angles were wide,trabecular meshwork visible in 5 cases(20%),scleral spur visible in 12 cases(48%) and ciliary band visible in 8 cases(32%).In group B,the chamber angles reopened over 180 degrees were in 12 cases(48%) 1 month after operation and PAS reoccurred in 2 affected eyes.The effect of reopening chamber angle in group A was better than that in group B(P180 degrees can be treated by cataract extraction combined with goniosynechialysis,while trabeculectomy is not necessary.

Auricle reconstruction involves auricular framework construction and selection of skin soft tissues that coats the auricular support. To date, there has no ideal biomaterial for the auricular framework. The materials of auricular framework include autologous costal cartilage, medical grade silicon rubber, and porous polyethylene. The autologous costal cartilage avoids rejection, and has advantages such as good flexibility, easy combination with surrounding coated tissues, and low surgical cost. However, the acquisition causes injury, increases pain of patients, alters thoracic cage structure, and the cartilage graft is absorbable and deformable. The medical grade silicon rubber exhibits good exposure rate and high inflammation, which limit its clinical application. Medpor implant has been used recently as novel medical chemical synthesis materials. It makes of high density polyethylene, with strong plasticity, time-efficacy, stable fusion with local tissue and good biocompatibility. However, the exposure of Medpor implant is the complication. In this study, the Medpor implant in combination with total auricle reconstruction was used to treat 12 cases of congenital microtia, trauma-induced auricular defect, auricular defect complicated by atresia of external auditory canal and hearing disturbance. Postauricular fascial flap was expanded to form reconstructed auricle, followed by wound skingrafting. The expanded fascial flap improves blood supply, with close coating, decreases complications. Moreover, all reconstructed auricle survived, with no ulcerate or exposure, and the appearance is similar to normal auricle.

Autophagy ; Humans ; Myocardial Reperfusion Injury

Objective To investigate the clinical significance of matrix metalloproteinase-9(MMP-9)in the pathogenesis of Kawasaki disease(KD)and its complications of coronary arterial lesions(CAL).Methods Twenty-three inpatients with KD were admitted in hospital from Jan.2005 to Dec.2006,whose venous blood samples were obtained during the acute and convalescent stage respectively,and CAL was detected with 2-Dechocardiography.Twenty-seven venous blood samples(12 febrile children and 15 normal physical examination children)were collected as healthy controls.Serum levels of MMP-9 were measured by enzyme-linked immunoadsorbent assay(ELISA).According to the results of echocardiography,children were divided into 2 groups:with CAL group(n=13)and without CAL group(n=10).Results During the acute stage,serum MMP-9 levels were significantly higher in KD than those in controls(Pa

Objective The immature platelet fraction (IPF) could be detected quantificationally in Sysmex XE-2100 with the software of XE-pro and IPF master.The study aimed to perform the methodological evaluation of IPF detection and investigate the clinical significance for the monitoring for bone marrow hyperplasia in cancer chemotherapy patients.Methods The high-level, middle-level and low-level whole blood samples were randomly chosen for detection repeatly 20 times to obtain interrun coefficient of variation (CV) for evaluation of the precision and reproducibility. Integrated quality controls were determined for continuous 20 days to obtain intrarun CV, and the stability and carryover was investigated.Furthermore, the correlation between results from Sysmex XE-2100 and results from flow cytometry was assessed.182 healthy subjects and 130 cancer patients undergoing chemotherapy were selected and the latter were divided into two groups according to platelet counts after therapy, one was normal PLT group, the other was decreased PLT group.The IPF of either group was measured and was compared with each other.Results The precision of IPF for high-level, middle-level and low-level were 4.71%, 4.33% and 4.95%, respectively, they were less than 5%.The interrun CV of IPF detection for middle-level and low-level were less than 5%.The interrun CV of IPF detection for high-level were less than 10%.The carryover ranged from 0.6% to 2.7%,and the average rate was 1.2%.A good correlation for IPF detection was shown between results from Sysmex XE-2100 and flow cytometry(r = 0.880 9,P ＜ 0.01).Regarding clinical utility of IPF detection in treatment monitoring for chemotherapy effect, the median of IPF levels in decreased PLT group, normal PLT group,control group were 14.45% ,7.35% and 15.68%, respectively.There was significant difference among the three groups (H =49.032,P ＜0.01 ).The IPF level was higher in decreased PLT group than normal PLT group (t = -5.681, P ＜ 0.O1 ), and was lower in normal PLT group after chemotherapy than the control group (t = -6.662 ,P ＜0.01 ).Conclusions The determination of IPF by the Sysmex XE-2100 owns high precision and good stability. IPF is an effective marker for evaluation of thrombopoietic condition in the cancer chemotherapy patients.

Objective To determine the significance and expression of S100A9 and NMP238 in cervical carcinoma with different concurrent chemoradiotherapy sensitivities. Methods Fresh carcinoma tissues were collected from untreated cervical carcinoma patients and preserved at -80 ℃. The tissues were classified into 2 groups:a high sensitivity group (HS) and a low sensitivity group(LS) according to their response to concurrent chemoradiotherapy. Protein was separated by 2-dimensional gel electrophoresis (2-DE). Peptide mass fingerprintings (PMF) were acquired by matrix assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and the proteins were identified by data searching in the Mascot-database. Differential expressed proteins were assayed by Western blot and immunohistochemistry.Results Most of the gels were clear and were successfully and reproductively analyzed. Intensity and rate of S100A9 expression were higher in the HS group than in the LS group,and those of NMP238 expression were higher in the LS group than in the HS group. Conclusion S100A9 and NMP238 expression is associated with concurrent chemoradiotherapy sensitivity in cervical carcinoma.