OBJECTIVETo explore the pathogenetic mechanism of a family affected with Waardenburg syndrome.

METHODSClinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Plasmids for wild type (WT) and mutant MITF proteins were constructed to determine their exogenous expression and subcellular distribution by Western blotting and immunofluorescence assay, respectively.

RESULTSA heterozygous c.763C>T (p.R255X) mutation was detected in exon 8 of the MITF gene in the proband and all other patients from the family. No pathological mutation of the SOX10 and SNAI2 genes was detected. The DNA sequences of plasmids of MITFand mutant MITFwere confirmed. Both proteins were detected with the expected size. WT MITF protein only localized in the nucleus, whereas R255X protein showed aberrant localization in the nucleus as well as the cytoplasm.

CONCLUSIONThe c.763C>T mutation of the MITF gene probably underlies the disease in this family. The mutation can affect the subcellular distribution of MITF proteins in vitro, which may shed light on the molecular mechanism of Waardenburg syndrome caused by mutations of the MITF gene.

Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Pedigree ; Waardenburg Syndrome ; genetics ; Young Adult

Objective To investigate the clinical value of splenic autotransplantation in patients with severe splenic trauma. Methods A prospective case-control study were performed in 120 patients with traumatic spleen rupture including the treatment group 72 patients and the control group 48 patients. The treatment group were treated with splenectomy plus spleen autotransplantation and the control group merely under splenectomy. Compare the operation time,operative blood loss,postoperative hospital stay,postoperative complications and the immune indexes before and different period after operation. Results Autologous spleen transplantation takes more time than merely splenectomy(P<0.05),but the operative blood loss,postoperative hospital stay and postopera-tive complications were no significant difference. 1 days after operation,the immune indexes of two groups were significantly lower than those before operation(P < 0.05),and 1 week after operation the immune indexes of two groups were significantly elevated(P<0.05).The immune indexes of the treatment group were better than those of the control group 3 months after operation(P < 0.05),and there was no significant difference compared with preoperative. Conclusion Splenectomy cause the decrease in the immune function,but the immune function can quickly rise to a certain level in short term.The splenic autotransplantation can effectively restore the immune func-tion to the preoperative level.

Objective:To assess the impact of zero makeup policy for drug and medical supplies on hospitals. Methods:Descrip-tive statistics and comparative analysis were used to analyze the related indicators, profit and loss calculation and the cost of patients from April 2014 to March 2017.Results:After the policy was implemented, the number of outpatients and the number of outpatients choosing general doctors decreased. The average length of hospitalization was 8.88 days, and the proportion of drug consumption was 34.10%. The number of outpatients choosing medical experts, the number of inpatients and the proportion of surgical treatment in-creased. Although the policy benefited patients,the average medical expenditure still increased. There was policy loss in the hospital. Conclusion:The reform promotes the implementation of hierarchical medical system, optimizes the hospital income structure and re-duces drug proportion significantly,which achieves the original intentions of the policy to some extent.

There is a pressing need to promote the overseas innovation and development of traditional Chinese medicine (TCM) in building the "Belt and Road".However,TCM still faces great challenges in the process of internationalization at the present stage,because the backwardness of the international marketing management,cultural differences between China and the west and lack of R&D in turn.It causes indefinite international market position,low brand awareness and low international influence.Therefore,this research explored the internationalization identity of TCM in building the "Belt and Road" from the perspective of Burke's identity theory,put forward ways to realize the international identity of TCM in the aspects of experience,emotion and culture,and constructed the integrated marketing strategy framework of government marketing,industry marketing and enterprise marketing based on STP marketing tool.It would be beneficial to promote the international cognition and influence of TCM,in order to realize the TCM internationalization.