Objective To analyze the mutations of candidate WFS1 gene in the Chinese pedigree with Low frequency sensorineural hearing loss. Methods PCR were performed with fourteen pairs of primers in the coding sequence of WFS1 gene. The PCR products were subsequently sequenced in the 38 individuals of LFSNHL family for screening the gene mutations. Results The PCR amplification fragments showed well quality in the five pairs of primer, and further analysis with frequencing showed no polymorphism and mutations in the members. Conclusion The present study rule out the possibility that the deafness gene WFS1, which locates on the 4p16, lead up to the hearing loss of LFSNHL pedigree.

Retinoblastoma is the most common pediatric retinal tumor initiated by biallelic inactivation of the retinoblastoma gene ( RB1 ) , affecting roughly 1 in 15000 children with 1100 new cases each year.In China, RB remains a potentially devastating disease while lack of early diagnosis and aggressive treatment strategies.Moreover, RB patients individually show a variety of drug response to regular systemic chemotherapy since intensive chemotherapy and long-term follow-up are not as readily available.The majority of patients with advanced diseases require enucleation which affects the future quality of children life.Recent studies showed that alterations in genomics and epigenomics of RB play very important roles in RB progress and therapy.We thereby review current understanding changes of genomics and epigenomics in RB as potential prognostic and therapeutic targets.

With the recent understanding of cancer biology, physiopathology, and cancer genetics& genomics, new treatments and methodologies are constantly developed, including on the development and application of molecular targeted drugs for cancer therapy have been widespread concerned.Antibody-based drugs targeting over-expressed oncogenes or other functional proteins in cancer with its high specificity, less side-effects and significant clinical efficacy became rapidly the hot-spot of anti-tumor drug research.Currently, there are already more than 20 of anti-tumor antibody-based drugs approved for clinical application, and achieved remarkable results.This article summarizes the development and current situation of monoclonal antibody-based drug research for cancer therapy, as well as their anti-tumor mechanism of action.At the same time summarizes the new advances in cancer research in the field of monoclonal antibody drugs made,and its prospects as well as shortcomings were outlined.

Objective To investigate the radiotherapy curative effects on pains of bone metastases of breast cancer. Methods To analysis 32 patients retrospectively, in which 22 patients received radiotherapy(17 moderate pain, 5 severe pain, 6 dysfunction). Result 16 patients obtained complete remission with 6 cases partial response to radiation. Karnorfsky's score was improved and malfunction disappeared. Conclusion Radiotherapy is a simple and effective treatment on bone metastases of breast cancer with quick and persistent pain relieves.

BACKGROUND:For unstable intertrochanteric fracture repair, there are two views:extramedul ary fixation or intramedul ary fixation. Theoretical y, intramedul ary fixation is in line with the principles of minimal y invasive, more mechanical and biological advantages. However, evidence-based medicine and related studies have shown that compared with the extramedul ary fixation, intramedul ary fixation did not reflect the proper theoretical advantage. OBJECTIVE:To compare the biomechanical performance of two kinds of internal fixation systems:dynamic hip screw and Gamma nail which commonly used in repair of intertrochanteric fractures by finite element method, and to evaluate the advantages and disadvantages of dynamic hip screw and Gamma nail in treatment of unstable intertrochanteric fracture. METHODS:Three-dimensional finite element model of human femur unstable intertrochanteric fractures (31-A2;AO fracture classification), and the three-dimensional finite element models of dynamic hip screw and Gamma nail were established respectively, and were fixed according to the requirement of orthopedic surgery. The reference load which the joint bearing was at the peak time in adult step state period with the body mass of 700 N was stimulated. The stress distribution of bone, bone-internal fixation model, nail or screw, the strain and deformation of fracture location on the surface of the bone and bone-internal fixation model, the stress distribution along the femur and the loading transfer condition along the internal fixator and the like were analyzed. RESULTS AND CONCLUSION:Dynamic hip screw and Gamma nail have good sliding compression features which could make the continuous and dynamical y axial compression of the fractured section. Under the load conditions, the displacement value of dynamic hip screw was larger. In the treatment of unstable intertrochanteric fracture, Gamma nail was stronger than dynamic hip screw. Two kinds of internal fixations al make the bearing load of the proximal femur reduce. In the treatment of 31-A2 type unstable intertrochanteric fractures, we should choose dynamic hip screw for fixation if the femoral calcar was not seriously crushed, little defect or no defects and can immediately rebuild the stability of femoral calcar during operation, otherwise, stronger internal fixation, namely Gamma nail fixation should be chosen.

BACKGROUND: Compared with the metal screws, absorbable screws have more obvious advantages, such as does not have to conduct internal fixation removal, non-metal ic components, no influence on the magnetic resonance imaging of patients after implantation, relatively simple operations, namely dril ing-tapping-screws fixation, more in line with the principles of minimal y invasive in orthopedics. OBJECTIVE: To investigate the biomechanical characteristics of absorbable screw fixation in repair of simple lateral mal eolus fractures by means of finite element technology. METHODS: The three-dimensional model of simple lateral mal eolus fractures and absorbable screw model were established, and then fixed according to standard orthopedic surgical techniques. The reference load when the load bearing of fibulotalar joint reaching the peak value in a normal adult gait cycle was loaded. The stress distribution and displacement of fibula and absorbable screws were analyzed. RESULTS AND CONCLUSION: There were total y 38 542 units, 8 790 nodes in the single screw fixation model. When the articular facet of lateral mal eolus loading 300 N, the maximum stress of screws was 89.35 MPa, the maximum displacement was 0.5 mm, the maximum displacement of the distal fracture was 0.5 mm. When the articular facet of lateral mal eolus loading 450 N, the maximum stress of screws was 152.58 MPa, the maximum displacement was 0.59 mm, the maximum displacement of the distal fracture was 0.77 mm. There were total y 43 115 units, 9 496 nodes in the double screws fixation model. When the articular facet of lateral mal eolus loading 300 N, the maximum stress of screws was 38 MPa, the maximum displacement was 0.44 mm, the maximum displacement of the distal fracture was 0.44 mm. When the articular facet of lateral mal eolus loading 450 N, the maximum stress of screws was 66.68 MPa, the maximum displacement was 0.48 mm, the maximum displacement of the distal fracture was 0.49 mm. The experiment verified the biomechanical feasibility of absorbable screw fixation in repair of simple lateral mal eolus fractures. For simple involving only the lower lateral fibular fracture, absorbable screw fixation is entirely feasible, and usual y requires at least two screws to maintain the stability of the articular surface of the reset.

Objective To investigate the phenotype and genetic characteristics of a Chinese family with an autosomal-dominant inherited sensorineural hearing loss.Methods A Chinese pedigree associated with an autosomal-dominant inherited low-frequency sensorineural hearing loss (LFSNHL) was investigated.After obtaining informed consent from all study participants medical and audiological examination were used to rule out any syndromic hearing impairment.Five patients were tested with DPOAE and ABR,while two patients were tested with vestibular function and computed tomography scan of the temporal bone to exclude auditory neuropathy and other possible aural disorders.Twenty-one loci and twenty-three genes of DFNA screening had been done by using microsatellite markers and linkage analysis.Results Proband of the family had been diagnosed with low-frequency sensorineural hearing loss.A Chinese family BJ-L046 with non-syndromic autosomal dominant hearing loss was ascertained.Hearing impairment in the affected members in family BJ-L046 occured from 10 to 20 years of age and mainly affected the low frequencies,causing an upsloping audiogram.Higher frequencies were getting involved with increasing age,thus causing a flat-type audiogram.No positive result was found in twenty-one loci and twenty-three genes of DFNA screening.Conclusion A Chinese family with late-onset low-frequency sensorineural hearing loss was clinically studied.No positive result was found by linkage analysis,and twenty-one loci and twenty-three genes of DFNA were preliminary excluded.

Objective To study the in vivo expression and biodistribution of Ad5-Fluc (Adenovirus carrying firefly luciferase genes) in mice.Methods The recombinant Ad5-Fluc virus was constructed and infected to BALB/c or nude mice through three different routes.The protein expression level,tissue distribution and the characteristics of infection were analyzed by in vivo bioluminescence imaging technology.Results Compared to other two routes,the BALB/c mice infected through muscular route had the longest expression cycle (over 60 days) and the highest expression level,while the virus was transferred into the liver and spleen after infection.The nude mice had a significantly extended expression cycle than BALB/c mice.Moreover,the characteristic of liver tropism was eliminated after Ad5 F35 infection in mice,while maintained similar expression efficiency.Conclusion Due to the highest expression efficiency,the muscular route would be the optimal route for Ad5 vector based vaccination.In addition,Ad5F35 virus could become an ideal alternative vaccine vector for eliminating the liver tropism.

A series of novel N-(2-arylethyl) isoquinoline derivatives were designed, synthesized and evaluated for their anti-cancer activities. Among these analogs, compound 9a exhibited the potential anti-cancer activities on HepG2 and HCT116 cells with IC50 values of 2.52 and 1.99 microg x mL(-1), respectively. Cell cycle was blocked at S phase of HepG2 cells treated with 9a by flow cytometry detection. Our results provided a basis for the development of a new series of anti-cancer candidates.

Objective To evaluate subclavicular angiography with brachial-axillary artery externally and temporally occluded in depicting hemoptysis-related ectopic arteries originating from shoulder, neck and chest wall in the interventional treatment of hemoptysis. Methods A retrospective analysis of the medical records and angiograms of 103 patients who underwent transarterial procedures for hemoptysis was carried out. The arteries originating from the subclavicular arteries supplying the shoulder, the neck and the chest wall, ectopic bronchial arteries (EBA) as well as non bronchial systemic arteries (NBSA), were depicted by subclavicular angiography with brachial-axillary artery externally and temporally occluded. The number and distribution of the responsible aberrant arteries were investigated. Results Of the hemoptysis-related arteries(n=372) depicted and embolized in the studies, 51.9% was normally-originated bronchial arteries(n=193),6.7% was ectopic bronchial arteries (n=25),41.4% was NBSA(n=154).Both anomalous and NBSA arising from subclavicular-axillary area(n=80) were accounted for 21.5% (80/372) of all aberrant arteries, and 44.7%(80/179) of all anomalous and NBSA (n=25+154=179).Of those arising from subclavicular-axillary arteries,56.3%(45/80) were found to be originated from the internal thoracic artery (n=45),98.2%(112/114)of responsible internal thoracic arteries and their distal branches were well depicted by subclavicular angiography with brachial-axillary artery externally and temporally occluded. Conclusion Subclavicular-axillary artery is a very important vessel where EBA and NBSA originate. Subclavicular angiography with brachial-axillary artery externally and temporally occluded could help to determine the abnormal arteries in the region quickly. The method should be taken as a routine procedure for interventional treatment of hemoptysis.