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.

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 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 investigate the distribution modes of NOS nerves and interstitial cells of Cajal (ICCs) in myenteric plexus of human fetal intestine. Methods Small intestine samples from 12 fetuses were collected for the preparation of whole mount preparations and cryo sections examined by immunocytochemistry for c kit receptor tyrosine kinase and histochemistry for NADPH diaphorase. Results ICCs associated with the myenteric plexus in the fetal small intestine were observed in the shape of spindle or ovoid with two to three slender processes forming an independent and complete cellular network. While NOS positive nerves, which constitute the main neuronal component of ganglia, connecting strands, and nerve fibers, were found within the circular muscle layer and myenteric plexus of the small intestine and the latter was especially rich of this kind of nerves. Most of these positive neurons were Dogiel I type neurons and they often gathered in cluster in the ganglia. Each ganglion contained several to dozens of NOS positive neurons. Although no colocalization of ICCs and NOS positive nerves was found by double staining of whole mount preparations and cryo sections, they were closely distributed. Conclusion Our results indicate that NO released by myenteric plexus, an inhibitory neurotransmitter, may possess the function of regulating ICCs and smooth muscle in late stage of the fetus.

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.

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.

Objective To study the correlation between the contrast enhancement features on spiral computed tomography (SCT) and different clinicopathological characteristics in hepatocellular carcinoma (HCC).Methods Fifty cases (54 lesions) of HCC proved pathologically and examined with enhancement dual-phase SCT scanning (arterial phase and portal vein phase) were included in this study. The SCT features and the clinical details about resection and pathological differentiation were recorded. All the features of SCT were compared with some clinical and histopathological characteristics of HCC.Results The features of SCT were correlated with pathological characteristics of HCC. The pseudocapsula patterns were related with Edmondson's grade, and the enhancement patterns were associated with the diameter of tumor and intratumoral necrosis. There was a significant correlation between the high infiltration and severity (intrahepatic daughter foci, tumor-emboli in portal veins, lymphatic metastasis) on the SCT images and the diameter of tumor. The same correlation was found between the diameter of tumor on the SCT images and AFP value, and also between hepatic cirrhosis on the SCT images and HBsAg, the diameter of tumor.Conclusion This research confirms that SCT features are correlated with some clinicopathological characteristics of HCC.

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 explore the relationship between Tongren analysis EV 71 intestinal virus genotyping and humoral immune function ,for further clinical understanding of enterovirus EV 71 provide references.Methods:February to August 2014 Tongren to our hospital for treatment of intestinal virus EV 71 HFMD infected children ,according to the genetic type of virus infection is mainly divided into three groups ,namely group A,there were A type of intestinal virus EV 71 infection,20 patients;group B,there were B-type intestinal virus EV71 infection,20 patients;group C,there were C-type intestinal virus EV71 infection,20 cases of children.Three groups of patients by detecting immunoglobulin levels and TNF-ɑ, IL-6 and IL-10 levels, and to compare different genotypes affect intestinal virus EV71 HFMD children humoral immune function.Results:After testing,A group of patients with TNF-ɑ,IL-6 and IL-10 levels were (285.60 ±30.50) pg/L,(60.50 ±5.60) pg/L,(25.50 ±4.50) pg/L,than those in group B,high levels of three indicators of group C patients ,a significant difference ( P<0.05 ) ,group C patients with TNF-ɑ,IL-6 and IL-10 levels in three groups of patients than B high level indicators ,with a significant difference ( P<0.05 );tested three groups of patients with IgA ,IgG level pairwise comparisons showed that there were significant differences (P<0.05),the highest a group of patients with IgA,IgG level,group C, followed by the lowest level of group B patients;levels of the three groups of patients with IgM pairwise no significant difference ( P>0.05 ) .Conclusion:Different genotypes of enterovirus EV 71 can cause serious foot and mouth disease ,and could significantly improve the level of serum immunoglobulin levels of inflammatory cytokines ,but the intensity of different genotypes of different pathogenic ,there are some differences ,but the specific mechanisms need to be further explored.

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.