Inheirted metabolic disodrers(IMD)involves in multiple substance dysbolism,which usually results in irreversible neurological lesions because of various categories and complicated clinical manifestations.In resent years,IMD became one of the hot spots in medical domain around the world,original diagnostic technique and management progressed unceasingly.This paper provides an overview of the traditio-nal detection and treatment about IMD,and reviews the new techniques such as gene analysis,gene chip,organ transplantation and enzyme replacement therapy at the same time.

Agenesis of Corpus Callosum ; Chromosomes, Human, X ; Gene Deletion ; Glycerol Kinase ; genetics ; Humans ; Infant ; Male ; Syndrome

Objective To investigate the significance of I?B kinase-?(IKK-?) and the protective effect of Ligustrazini(Lig) in acute lung injury(ALI) induced by hemorrhagic shock(HS) in rabbits. Methods Thirty rabbits were randomly divided into three groups: HS plus endotoxin group(n=10), Lig treatment group(n=10) and the normal group(n=10). In situ hybridization and immunohitochemistry combined with in situ quantitative analysis were used to detect the distribution and relative contents of IKK-? and NF-?B in lung tissues. The plasma concentration of tumor necrosis factor-?(TNF-?) was measured by ELISA. Morphological change of the lung was observed by light microscopy. Results Compared with the normal group, the expression levels of IKK-?(0.223?0.080), NF-?B(0.162?0.021), and TNF-?(809.33?201.6) were obviously increased in HS plus endotoxin group(P

Objective To observe and analyse the application effect and value of problem based learning (PBL) combined evidence-based learning (EBL) in emergency medicine clinical teaching.Methods A total of 53 clinical medicine students were selected.The combined teaching method was applied in emergency clinical teaching.After the end of the teaching,the teaching effectiveness survey and theory test of the combined teaching group was performed,and the theory test scores was compared with the traditional teaching group.Results The combined teaching method could stimulate learning enthusiasm,improve learning efficiency,the abilities of selfstudy,literature retrieval,and the ability to analyze and solve problems.77.4％ of students thought this new teaching method had good application value in clinical teaching.Furthermore,the excellent rate of the theory test scores combined teaching group was better than traditional teaching group (41.5％ vs 15.6％,x2 =7.868,P =0.007).Conclusions The PBL joint EBL pedagogy can overcome diadvantages of tradional teaching and provide higher interest,ability of self-study as well as higher teaching quality of the medical students.It will be worth to spread in medical clinical teaching.

Objective To observe the antibacterial activity of artificial antimicrobial peptides (AMPs) to Blastomyces albicans, E. coli and Staphylococcus aureus in oral infection in vitro. Methods The AMPs were dissolved into PBS or sterilized saliva, then the inhibi-tion of different concentration AMPs to E. coil was evaluated by tube testing. The inhibition effect of different concentration of AMPs to Staph-ylococcus aureus and Blastomyces albicans were evaluated by antibiotic-susceptive test paper. Results When the concentration of AMPs added to broth of E. coli is from 150μmol/L to 300μmol/L , the bacterium count is 0 while the number in control is 6700 ～ 9200cfu/ml. At 100μg/tablet AMPs, the diameter of inhibitor zones of Staphylococcus aureus and Blastomyces albicans are 13mm and 11 mm. At 300μg/ tablet, the diameter are 16 mm and 17mm. AMPs dissolved in PBS and saliva have similar antimicrobial activity. Gonclusions The AMPs is effective to prevent Blastomyces albicans, E. coli and Staphylococcus aurcus in oral infection in vitro.

[Objective]To introduce a new technique of ankle arthrodesis with trephine by lateral approach and evaluate its clinical effects.[Method]Ankle arthrodesis with trephine was performed in 20 patients with serious lesions.Lateral incision was adopted and osteotomy of fibula facilitated the exposure of the fusion site.A trephine of appropriate diameter was used for bi-osteotomy,thus inside the trephine gaining two bone blocks were then rotated 90? and replanted in situ.The pruned fibula was fixed with screws as on-lay!grafting.Proper cast was utilized postoperatively to maintain a functional position.[Result]The average follow-up period was 26 months(ranged from 6 months to 4 years).All the wounds healed well at 2 weeks and the callus appeared 4 weeks postoperatively.Sufficient pain relief was obtained in all patients at 12 weeks and appearance improved greatly.A solid union was achieved in all cases through the radiograph.[Conclusion]The use of trephine in ankle fusion by lateral approach is proved to be a simple technique with high union rate.The main advantages of the technique over other methods of arthrodesis include: excellent exposure by regular incision;less disturbance of the original joint,thereby preserving normal height of the joint and length of the extremity;no need for extra graft through in-situ grafting of the bone blocks and rigid on-lay grafting of lateral malleolus for high primary stability.

A case of mercury-induced Baboon syndrome is reported.A 31-year-old female presented with a 2-3 day history of pruritic symmetric erythematous papules on both axillas,popliteal fossa,buttocks and groins.The patient was exposed to a broken mercury thermometer two days before the onset of the eruption.Patch testing showed that the patient was sensitive to ammoniated mercury,mercury,mercuric chloride and mercurochrome.The mercury levels in serum and full blood reached the up limit of normal value three days after the onset,and gradually decreased over time.The patient was diagnosed with Baboon syn- drome caused by mercury according to the clinical manifestation and results from laboratory studies.

Objective:To observe the specific cellular immune response and the protection against P815 mastovytoma cells(H 2 d) stable expressing HBV surface antigen and HCV core antigen after the immunized mice(H 2 d) with plasmids SpcDNA3.1,CpcDNA3.1 and chimeric plasmid CSpcDNA3.1.Methods:After subcutaneous immunization with the three plasmids SpcDNA3.1,CpcDNA3.1 and CSpcDNA3.1 respecitively 3 w,the mice were inoculated with the transfected P815 tumor cells.The tumors size and the survival rate were measured.CTL assay was detected with LDH methods.Results:The chimeric plasmid CSpcDNA3.1 could inhibit the tumor growth,prolong the survival period and improve the survivial rate evidently.The splencytes from immunized mice showed strong CTL activity to CSpcDNA3.1 transfected P815 tumor cells.Conclusion:It was suggestd that specific antitumor cellular immunity could be induced by immunization with the chimeric plasmid CSpcDNA3.1 that contain chimeric HBV and HCV gene.

Objective: To observe the clinical effect of oral nutrition supplementation for maxillofacial tumor patients before operation. Methods: 60 patients who suffered from maxillofacial neoplasm were divided into two groups. In observation group, on basis of routine diet, oral nutrition supplements (Fortisip) had been added for 5～7 days before operation. In control group, only routine diet had been supplied. After operation, the two groups were all supplied with tube feeding. The blood routine test, plasma total protein, albumin, pre albumin and lymphocyte count were measured in all patients. Results: Every biochemical item reduced significantly after operation and no statistical significance was found between groups. But the absolute decreasing values had significant difference between the groups. Conclusions: Oral nutrition supplements (Fortisip) contains balanced nutrients and tastes well. It is safe and effective to use a nutritional supplement, being helpful to prevent malnutrition and to improve the immune function in perioperative period of patients with maxillofacial neoplasm.

Tumor occurrence and development is a complicated process.Previous studies confirm that DNA mutations result in activation of downstream pathways of tumor cells.Recently,studies of post-translational modifications showed that RNA editing play an important role in transcriptional mechanism.Thus,RNA editing further enrich the diversity of RNA and protein,participate in the process of many diseases,including cancer.Recently,many studies have focused on the RNA editing enzymne ADAR1 because of the complexity role in tumorigenesis and progression.This article mainly reviewed the role of ADAR1 in the occurrence and development of tumors.