Fanconi anemia performs (FA) great clinical heterogeneity. Although the identification of FA related genes extends the recognition of FA pathogenesis, few stringent genotype-phenotype connections have emerged. For the same FA genotype patients, it seems that type of mutation influences clinical phenotype more importantly, Modifier genes,environmental factor, can also result in obviously different clinical phenotype. Different from multiple genotypes and multiple clinical phenotypes, FA cellular phenotype is characteristic, and is the most important basis of diagnosis.

Objective To obtain the normal reference ranges of global longitudinal strain (GLS),global circumferential strain (GCS),global area strain (GAS) and global radial strain (GRS) of left ventricular in normal adults by three-dimensional speckle tracking imaging (3D-STI) using Meta analysis.Methods Eligible trials which detected global strain of left ventricular in normal subject through 3D-STI were searched in Embase,Pubmed,Cochrane Library database.According to the heterogeneity,parameters of contained studies were analyzed the weighted mean difference (WMD) and 95％ confidence interval (CI).The statistical software was STATA 12.0.Results Totally 1 552 healthy adults from 27 articles were included.Based on the Meta-analysis,theWMDand 95％CIofGLSwere 17.80 and (16.27,19.33),of GCS were 24.73 and (22.50,26.95),of GRS were 47.86 and (39.52,56.19),of GAS were 36.17 and (34.08,38.26).Conclusion The Meta analysis defines reference range of strains obtained by 3D-STI in healthy adults.Using these parameters of 3D globe strains,a guidance of reference for patienfs management and therapy selection may be provided.

Objective To observe the Th17 and regulatory T cells(Tr) equilibrium state as well as their changes of tuberculosis patients in six-month's anti-Tuberculosis treatment.Methods Select thirty-two tuberculosis patients received anti-Tuberculosis treatment while thirty-two healthy volunteers as controls.Flow cytometry was used to analyze Th17 and Tr cells in venous blood at the time of pre-therapy,3th,6th month.Results The ratio of Th17 cells in CD4 cells in tuberculosis patients and volunteers were (1.10±0.39)％,(2.50±1.03) ％,(3.90±1.34) ％,(4.50±1.52)％,respectively; the ratio of Tr cells were (9.17±3.26)％,(6.85±2.73)％,(5.46±1.69)％,(4.35±0.86)％,respectively.Conclusion Tuberculosis could make Th17 cells and Tr cells lost their balance,but the immune equilibrium state may gradually recover after anti-tuberculosis.The change of the amount of immune cells was likely to be the reference indexes to observe the progress of tuberculosis and the treatment effect of anti-tuberculosis.

Objective: To investigate the relationship between the erythrocyte membrane protein gene mutations and the clinical severity of hereditary spherocytosis (HS). Methods: Targeted sequencings were performed on 25 HS patients, correlation between HS mutations and patients’ clinical characteristics were evaluated. Results: A total of 25 HS patients were enrolled, including 13 males and 12 females with median age of 20 (4-55) years, including 9 compensatory hemolysis patients, 9 patients with mild anemia, 3 patients with moderate anemia and 4 patients with severe anemia. Of them, 18 patients (72%) harbored HS-related mutations, including ANK1 mutation in 6 cases, SLC4A1 mutation in 6 cases, SPTB mutation in 5 cases and 1 case with EPB41 mutation. Seven patients (28%) didn’t carry common HS mutations. SPTB and SLC4A1 mutations mainly affected male patients. There was no significant difference between the age of diagnosis (P=0.130) and HGB level (P=0.585) in patients with HS mutation and those without mutation, however, the EMA binding fluorescence intensity (P=0.015), AGLT50 (P=0.032) and EOF minimal hemolytic concentration (P=0.027) were significantly different in these two groups of HS patients. Conclusion To screen erythrocyte membrane protein coding gene mutations could favor the diagnosis of HS, and patients without mutations have mild clinical phenotype.