The short stature homeobox-containing(SHOX) gene,located in the short-arm pseudoautosomal region (PAR1) of the sex chromosomes,is one of the recently discovered genes,which is related to short stature.Its encoded protein,as a transcription activator,plays an important role in the regulation of growth.It has now been confirmed that the human SHOX gene mutation can cause L?ri-Weill syndrome,Turner syndrome,idiopathic short stature growth and its related characteristic skeletal deformities.This review makes a summary about SHOX gene defects,its clinical phenotype and treatment.

The practice of daily case discussion in the morning using slice show has been cartied out since orthopedic trauma department of Nanfang Hospital was set up.Bilingual ( Chinese and Englisl) discussion was hold in the department before and after the operation on the cases requiring three-level or higher level operation and those of special diseases.The bilingual case discussions will greatly improve the clinical thinking and accumulate the clinical experiences for doctors.The professional English proficiency of all doctors in the department have been improved because of the bilingual case discussions and the most effective treatment for patients was provided at the same time.

Actins ; metabolism ; Adult ; Amyloidosis ; pathology ; Diagnosis, Differential ; Female ; Humans ; Intestinal Pseudo-Obstruction ; metabolism ; pathology ; Lupus Erythematosus, Systemic ; pathology ; Muscular Atrophy ; pathology ; Scleroderma, Systemic ; pathology ; Young Adult

Objective To investigate the efficacy of four antiviral solutions for chronic hepatitis B (CHB) treatment .Methods 240 cases of patients with CHB were selected ,divided into four groups (group A ,group B ,group C and group D) ,and treated with lamivudine ,adefovir dipivoxil ,adefovir dipivoxil/lamivudine ,and entecavir ,respectively .The recovery rates of ALT and AST ,HBV DNA and its negative conversion rates ,and HBeAg/HBeAb conversion rates of the four groups were compared respectively after 12 ,24 and 48 weeks treatment .And the YMDD mutation rates were compared after 48 weeks treatment .Results The recovery rates of ALT and AST ,HBV DNA and its negative conversion rates ,HBeAg/HBeAb conversion rates ,HBeAg/HBeAb conversion rates of group C and group D were significantly better than those of group A and group B (P<0 .05) .Conclusion The antiviral so‐lutions of adefovir dipivoxil/lamivudine and entecavir are two kinds of rational treatment .

Objective To observe the effects of lentivirus-mediated RNA interference silencing IL-1 type Ⅰ receptor on the expression of mitogen-activated protein kinase (MAPK) in a rat model of osteoarthritis (OA), and to explore the role of IL-1 and MAPK in OA. Methods Forty SD rats were randomly divided into four groups(A-D, each group: n = 10). The rats (A-C group) were underwent unilateral anterior cruciate ligament transaction and partial excision of the medial meniscus. At day 7 and 9 after operation, the rats of group A were respectively received 40 μL of lentivirus-mediated RNAi silencing IL-1 type Ⅰ receptor by intra-articular injection, while the rats of group B were received lentivirus-mediated RNAi non-silencing IL-1 type Ⅰ receptor, and the rats of group C were received saline. The rats of group D were taken for normal control. All rats were sacrificed four weeks after the surgery. The knees were harvested to observe macropathologic changes of the joint cartilage. ERK1/2, JNK1/2 and p38 proteins in the cartilage were detected by Western blot. Results Cartilage degradation in group A was milder than that in group B and C (P<0.05),but was worse compared to group D (P<0.05). Level of p38 expression in cartilage in group A was lower than that in group B and C (P<0. 05), but had no significant difference compared to group D (P>0.05). Levels of ERK1/2 and JNK1/2 expressions in cartilage in group A were lower than that in group B and C(P<0.05),but was significantly increased compared to group D(P<0.05). Conclusions Lentivirus-mediated RNAi silencing IL-1 type Ⅰ receptor can inhibit the expression of MAPK, in particular,p38 protein was strongly inhibited.

sis were given.

Objective To evaluate the interstital MR lymphography using positive lymphotropic contrast agent for differentiation of metastatic lymph nodes from inflammatory lymph nodes hyperplasm.Methods Eighteen New Zealand white rabbits weighted at 2.0-2.5 kg were used.Inflammatory hyperplastic popliteal lymph node model was established in 9 rabbits by injection of complete freund adjuvant into the interdigitial skin of the dorsal aspect of one hind leg,and tumor-bearing popliteal lymph node model was established in another 9 rabbits by injection of VX~2 tumor cell suspension.The popliteal lymph nodes of another hind leg of all 18 rabbits were assigned to the normal contral group.In each group,every rabbit underwent MR lymphography examination before and after the inoculation.Volumes of 0.2 ml of Gd[DTPA-bis(2-aminoethoxy)ethane]polymeric contrast agent(Gd-poly-DTPA-EOEA)injection were injected subcutaneously into the dorsal feet of both hind legs of two groups of rabbits.T_1-weighted 3D gradient-echo images were obtained,and source images were used to reconstruct images of MIP before and after the administration of agent.The maximum short-axis diameter(MSAD)of each popliteal lymph node was measured on the enhanced 3D MIP images,and the signal-to-noise ratio(SNR)measurement was performed in the largest popliteal node of each rabbit at each time point in delayed scan.Independentsamples t test was used to compare the sizes of popliteal nodes in MSADs between inflammatorily hyperplastic and tumor-bearing nodes after the inoculation,and the values of SNRs of popliteal nodes at each time point between inflammatorily hyperplastic,tumor-bearing and normal popliteal lymph nodes.Imaging results of the popliteal nodes were analyzed and correlated with pathological findings.Results All of the rabbits were successfully inoculated except of the 2 rabbits in tumor-bearing nodal group.The size in MSAD of 13 inflammatorily hyperplastic and 11 tumor-bearing nodes was(1.32±0.14)and(1.33±0.12)cm,respectively.There was no significant statistical difference between the sizes of the two groups(t=0.186,P＞0.05).At the time of 5,15,30,60,90,120 minutes after the injection of the agent,the value of SNR of 9 inflammatorily hyperplastic and 9 contralateral normal nodes was 17.31±0.37 and 17.19±0.29,27.42±0.50 and 27.39±0.48,38.44±0.47 and 38.19±0.27,37.10±0.09 and 36.97±0.10,36.32±0.61 and 36.20±0.80,34.60±0.44 and 34.71±0.32,respectively.There was no significant statistical difference between the values of the two groups(t=0.78,0.14,1.43,1.00,0.36,-0.62,respectively,P＞0.05).The value of SNR of seven tumor-bearing and seven contralateral normal nodes was 6.00±0.22 and 17.21±0.28,7.87±0.16 and 27.17±0.23,8.14±0.24 and 38.16±0.19,8.09±0.28 and 36.94±0.30,7.59±0.20 and 35.96±0.72,7.50±0.14 and 34.81±0.27,respectively.There was significant statistical difference between the values of the two groups(t=-84.00,-182.72,-261.27,-186.48,-100.22,-239.00,respectively,P＜0.01).At each time point,inflammatorily hyperplastic nodes had significantly higher values of SNRs compared to tumor-bearing nodes(t=83.97,174.07,158.49,152.71,96.06,154.57,respectively,P＜0.01).A complete or part signal filling defect occurred in the tumor-bearing lymph node on the MR lymphographic images.Conclusions The internal anatomy and function of the lymph nodes were effectively visualized by interstitial MR lymphography with positive lymphotropic contrast agent,which provide a sensitively diagnostic way for the differentiation of benign lymph nodes from malignant ones.

Objective To observe the clinical curative effect of cinobufacini injection in the treatment of primary bronchopulmonary carcinoma.Methods 120 patients with primary bronchopulmonary carcinoma were randomly divided into the control group and treatment group,60 cases in each group.Patients of the control group were treated with the general,symptomatic and dialectical therapy.Patients of the treatment group were given general,symptomatic,dialectical treatment and cinobufacini injection.The curative effect was determined by the standard efficacy of tumor,the survival quality of the patients was judged by the Karnofsky score.The adverse reactions,median survival time and the survival rate were compared between the two groups.Results The effective rate of the control group was 40.0％,that of the treatment group was 56.7％,the difference was statistically significant (x2 =4.034,P ＜ 0.05).By the Karnofsky score,27 patients of the control group were stable,39 patients of the treatment group were stable,the difference was statistically significant(x2 =12.265,P ＜0.05).Median survival time of the control group was (168 ± 16) d,that of the treatment group was (178 ± 20)d,the difference was statistically significant(x2 =12.265,P ＜ 0.05).One year survival rates of the control group and the treatment group were 5.0％,10.0％,the difference was statistically significant.There was no statistically significant difference between two groups in adverse reactions (P ＞ 0.05).Conclusion Cinobufacini injection can improve the quality of life and prolong survival of patients with primary bronchopulmonary carcinoma.It is effective and safe in clinical application.

Objective To explore the risk factors for asthma in children.Methods A 1:1 matched and hospital-based case-control study was conducted to analyses risk factors for asthma in 300 pairs of children by logistic regression analysis. Results The result of univariate Logistic regression analysis showed that there were 17 related factors for children asthma, including disease history of parents in respiratory system,family income,atopie character,history of acute respiratory infections, eating habit,the amount of sea foods intakes,foam plastics,family decoration,the way of exhaust fume in kitchen,the exhaust effectiveness,raising pet in house,family history of asthma,family history of allergic rhinitis,family history of food allergy,dust allergy of parents,systemic therapy after the first attack.With multivariate Logistic regression analysis,7 factors were entered the model,6 risk factors including father's history of respiratory diseases(OR 3.771,95%CI 1.533～9.278),low family income(OR 1.503, 95%CI 1.258～1.795),atopy(OR 3.788,95%CI 2.368～6.058),meat-eating habit(OR 2.042,95%CI 1.481～2.815),asthma history of family members(OR 1.710,95%CI 0.988～2.958),the family history of allergic rhinitis(OR 1.991,95%CI 1.234～3.211), and 1 protective factor of raising pet in house(OR 0.443,95%CI 0.265～0.739).The coefficients of these factors in multivariate logistic regression model were 1.327、0.407、1.322、0.714、0.536、0.689、and-0.814 respectively.Conclusion Children asthma was a multi-factorial complex disease,and the interaction of environmental and genetic risk factors played an important role in the onset of this disease.

Objective: To discuss the application of BALANCE-FFE sequence in abdominal MRCP.Methods:100 patients of abdominal diseases were examined by BALANCE technique. Results: The signal of BALANCE-FFE sequence was high in abdominal MRCP examination, and BALANCE image of the coronal scan was excellent. Conclusion:The biliary tract had obviously high signal intensity acquired by BALANCE sequence. The gallstone and the stenosis could be seen. The tissue out of the bile duct, the head of pancrease and the lymph could also be seen. The BALANCE sequence could be used as a supplement of conventional MRCP.