Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is generally inherited in an autosomal dominant pattern, but also is inherited in recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. Traditionally, the different classes of CMT have been divided into demyelinating forms and axonal forms. Until 10 years ago, the genetic basis of CMT disease was largely unknown. An intrachromosomal duplication on chromosome 17 was found in 1991, and a point mutation in the peripheral myelin protein-22 gene was discovered in 1992. The work starts a new stage of the molecular basis of this large group of peripheral neuropathies. In this review, we will summarize what is known today about the genetics of CMT, and what we have learned about the underlying disease mechanisms.

In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: ge-netic counseling is a communication process which deals with the human problems associated with the occurrence orrisk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the deliveryof information about genetic diseases, including genetic risks, natural history of the disease, and clinical manage-ment of the disease, to patients and their families. Although genetic counseling is not a newword for both westerncountries and China, the development of which is quite different. Many excellent genetic counseling programs havebeen developed since then in developed countries, whereas there is no formal one in China. In the United States,professionals who carry outgenetic counseling musthave taken a professional training and have had the certificate ofAmerican Board of Genetic Counseling (ABGC) (www.abgc.net).

Objective To demonstrate the mapping of the brachial plexus by means of high resolution sonography. Methods Eight healthy adult volunteers (three women and five men) underwent bilateral sonographic examination to assess the nerve structures of the brachial plexus from the extraforaminal part to the axillary part. Results A satisfactory sonographic demonstration was shown in all the volunteers. The subclavian and deep cervical arteries were useful landmarks for this mapping. Sonography was also reliable in depicting the level of the C7 vertebra because of the absence of the anterior tubercle from its transverse processes. Conclusion The brachial plexus can be mapped with high resolution sonography, for it may increase the diagnostic rate of brachial plexus injury.

BACKGROUND:Double inferior vena cava (DIVC), usually found at routine autopsies, is rare in the clinic. It has been described in numerous reports over the years since Adachi first depicted it in 1940. But all these reports were based on two-dimensional (2D) observation, and no three-dimensional and animated images reported. OBJECTIVE: To observe and establish the digital visible models of the structure of DIVC of the Virtual Chinese Human Male (VCH-M) Ⅲ.DESIGN: Repetitive measurement design by taking VCH-M Ⅲ as the subjects.SETTING : Department of Traumatic Orthopedics and Anatomy, Nanfang Hospital Affiliated to Southern Medical University.MATERIALS: The experiment was conducted in Southern Medical University from February 2006 to May 2006. The cross-sectional images of fresh tissues from VCH-M Ⅲ dataset were reviewed and 1 060 serially-sectioned slices of VCH-M Ⅲ, from the 2 600th slice to the 3 660th were taken as the source for the 3D models in our study.METHODS: Cross-sectional images of fresh tissues from the VCH-M Ⅲ dataset were reviewed and the structures of the DIVC were confirmed on a section-by-section basis. 3D computerized reconstructions of DIVC and its adjacent structures were generated from these data using Arnira 3.1 (TGS) imaging software.MAIN OUTCOME MEASURES: Cross-sectional images and 3D reconstruction of VCH-M Ⅲ.RESULTS: The cross-sectional images of the VGH-M Ⅲ could fairly display the main structure of DIVC. The digitized model of brachial plexus offers unique insights into the abnormity anatomy of DIVC.CONCLUSION: The VCH-M Ⅲ dataset can provide complete and accurate data of DIVC.

Objective To discuss the three-dimensional reconstruction of lateral flaps of legs by Amira 4.1 based on an operational platform of personal computer,and to establish their digitized visible models.Methods A fresh adult cadaver specimen was perfused with the mixture of lead oxide-gelatine.The eikonic data were imputed into personal computer.Radiographs of CT scanning of the lower legs were digitally analyzed by Amira 4.1 software.The segmented areas for skin,arteries and flap structures were displayed in different colors using tools of Brush,Lasso and Magic wand.By several steps,according to particularities of anatomy structures and traits of images,stereo images of the flap and its blood vessel structure were performed by several algorithms.The 3D reconstruction via the Amira 4.1 software consisted of tracing the contours of the anatomical structures to be reconstructed;adjusting the contours of stacked points by geometrical alignment;modeling the surfaces by meshing the framework of the points transformed into polygons and smoothing the contours of the object reconstructed from points.Three dimensional computerized reconstructions of lateral flaps of legs were conducted from these data using Amira 4.1 by computer-assisted imaging processing.Results The 3D images of the flap and its blood vessel structure by Amira were clearly displayed,and the surface and volume information could be obtained.The 3D images could display perfectly the main structures of flap and other adjacent structures by means of personal computer and software Amira 4.1.Correlation of cross-sectional images from CT-scanning to 3D models was a more effective way for understanding the flap anatomy.Conclusion Three-dimensional computerized reconstruction for lateral flaps of legs may provide great value for clinical experiments,basic research and surgical planning,and the Amira 4.11 software is of vital for three-dimensional reconstruction.

Y type of fracture was produced in distal end of fresh adult human cadaver femur, and five internal fixation methods were tested for anti shear and anti torsion strength with the WD 10E machine.The results indicated that the fixation intensity of cancellous screw and bone stud was the weakest, and that of the dynamic condylar screw was the strongest.The intensity of L type plate and T type plate with the addition of cancellous or cortical compression screw were stronger than that of cancellous screw.

Objective Using a model of H.pylori infected Mongolian gerbil , we observed the effect of H.pylori and N methyl N’ nitro N nitrosoguanidine (MNNG) on gastric mucosa, in an attempt to clarify the potential role of vitamin C in the prevention of gastric carcinoma. Methods A total of 160 Mongolian gerbils , eight week old, were randomly divided into five groups(each 32 animals): Group A, infected with H.pylori ; Group B, infected with H.pylori followed by MNNG administration; Group C, received MNNG without H.pylori infection; Group D, infected with H pylori followed by administration of MNNG and vitamin C; Group E as control. Eight animals from each group were killed at 12, 24, 36, 48 weeks, and histopathological changes in their stomachs were examined for chronic gastritis, intestinal metaplasia, atypical hyperplasia and adenoma. Results The incidences of intestinal metaplasia and dysplasia in groups A and B were significantly higher than those in the other groups( P

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.

Objective To explore the optimal screw fixation of anterior column lag screw fixation in the treatment of acetabular anterior column fractures by finite element method.Methods Firstly,CT scanning images from one healthy adult volunteer (male 30),were transferred into Materialise Mimics Innovation Suite 16.0 software,then three-dimensional (3D) models of pelvic were reconstructed and stored in stereolithography format.Then Imageware 12.0 software (EDS,USA) was used to produce the optimal and safe channel of the screw for acetabulum anterior column fixation.Three types of screw fixation were generated,i.e.(1) geometric algorithm screw channel,(2) in-out-in channel,(3) free screw channel.Secondly,all model data were transferred into Ansys 12.0 software to establish the finite element model.Gravity load were defined as 600 N,1 200 N,and 2 400 N,and the Von Mises the parameters of peak stress and deformation were recorded.Results Respectively load of 600 N,1 200 N,2 400 N force to normal hip and geometric algorithm screw channel, in-out-inscrew channel,free screw channel,the comparison between groups of hip by stress and hip deformation,with a given loading force of hip by stress and hip deformation increase gradually,the two were positively correlated,including screw by stress at slightly higher than that of normal hip,while the stress of hip by geometric algorithm screw channel andin-out-inscrew channel were similar,and that by free screw channel increased significantly.There was no significant difference between groups in the hip deformation.With a given loading force (600 N,1 200 N,2 400 N) on geometric algorithm screw channel、 in-out-inscrew channel and free screw channel,the deformation is gradually increased,and there were positively correlated.With the stress on geometric algorithm screw channel,it was significantly reduced compared with the latter two,and in-out-in screw channel suffered the biggest stress.Conclusion Through the finite element analysis,the geometric algorithm screw channel can be used as a safe and effective way for acetabulum anterior column fracture.

Objective In order to get the research focuses and trend of 8-year medical educa-tion program in China, articles on eight-year medical education program published from 2003 to 2014 have been analyzed. Method Using Cochrane Systematic evaluation method, 797 articles have been achieved from CMB, CNKI, WangFang and VIP. These papers were then analyzed with methods of bib-liometrics and content analysis. Result The articles on eight-year medical education program are mainly published on 4 journals. The publications focus on 10 domains. The domain of teaching method-ology is a hot research topic as 399 articles have discussed this domain. Most articles on teaching methodol-ogy focus on PBL, only a few papers discuss other teaching methods. In the 233 study on the curricu-lum design, only 42 papers have carried on the overall design course study and the researchers have the same opinion on the problems existing in eight-year program medical education curriculum. 19 articles have discussed the goal of eight-year medical education program. The goals of different schools' program are diverse. With the development of policy research, the eight-year medical educa-tion program education standards and accreditation are valued. Conclusion In the future, the research priorities should focus on pedagogy theories, the comparison to other nations' medical education system, and ed-ucation standards of eight-year medical education program.