Objective:To investigate the expression of CD56 antigen in leukemia cells of the patients with acute myeloid leukemia (AML)and its relationship with the prognosis of AML, and to clarify the role of CD5 6 antigen expression in predicting the prognosis of the AML patients.Methods:171 AML (non-M3)patients aged from 14 to 60 years old,who received a IA Regimen as the first time inducing chemotherapy were chosen.Flow cytometric analysis was used to evaluate the CD56 expression in leukemia cells.COX proportional regression analysis was used to select the prognostic factors,and bivariable analysis was used to study the relationship between the positive rate of CD56 and overall survival (OS).The CD56+ group (n=52),including CD56≥50% expression group (n=39) and CD56<50% expression group (n=13),and CD56- group (n=119)were identified by the expression of CD56 antigen.The complete remission rate (CRR), the relapse rate, the median OS, the median disease-free survival (DFS)and the survival rate of patients were compared.Results:The medium OS of the patients in CD56+ group (14.2 months)was shorter than that in CD56- group (39.4 months)(P<0.05).Moreover,the medium OS in CD56≥50% group was shorter than that in CD56<50% group (11.7 months vs 20.3 months,P<0.05).The 1-year and 2-year survival rates of the patients in CD56+ group (61.5%,46.2%)were lower than those in CD56-group (75.6%,63.9%)(P<0.05).The 1-year survival rate had no significant difference between CD56≥50%group and CD56<50% group (53.8%vs 84.6%,P>0.05),while the 2-year survival rate in CD56≥50% group was lower than that in CD56<50% group (41.0%vs 61.5%,P<0.05).There were no significant differences of the CRR between CD56+ group (76.9%)and CD56- group (68.9%)as well as CD56≥50% group (58.9%)and CD56<50% group (63.5%)(P>0.05).The relapse rate and first year relapse rate of patients in CD56+ group (64.3% and 37.5%)were significantly higher than those in CD56- group (34.3% and 17.9% )(P<0.05). However,there were no significant differences of the relapse rate and first year relapse rate between CD56≥50%group (75.0% and 42.9%)and CD56<50% group (37.5% and 16.7%)(P>0.05).The DFS in CD56+ group was shorter than that in CD56- group (P<0.05).The same DFS result was also found between CD56≥50%group and CD56<50% group (P<0.05).Conclusion:The expression of CD56 antigen in leukemia cells predicts a bad prognosis in the AML patients,and the higher expression of CD56 indicates the worse prognosis.

The main clinical phenotypes, imaging features and genetic test results of a child with Joubert syndrome treated in Shenzhen Children′s Hospital in July 2020 were analyzed retrospectively, and the literature on Joubert syndrome was summarized.The main manifestations of the protester during infancy were respiratory abnormalities and developmental retardation.The brain magnetic resonance imaging (MRI) showed a " molar sign" , which was consistent with the diagnosis of Joubert syndrome.Genetic testing suggested that the protestor carried complex heterozygous variations of KIAA0586 gene.Two variants were not reported previously, one of which was synonymous mutation.The child is the first case of Joubert syndrome caused by KIAA0586 gene in China.Joubert syndrome is a rare congenital brain development malformation characterized by high clinical heterogeneity and MRI molar signs.It may involve multiple systems.Early identification and intervention can improve outcomes.

Objective:To explore the oxidative stress of cerebral white matter lesion (WML) and normal-appearing white matter (NAWM) with in vivo proton exchange rate (k ex) MRI on relapse-remitting multiple sclerosis (RRMS) patients. Methods:Clinical and imaging data of 37 patients (case group) with RRMS patients of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology were analyzed retrospectively from November 2018 to November 2021, including 11 males and 26 females aged 18-41 (29±7) years. Another 22 age-matched healthy volunteers (control group) were recruited for the same period, including 4 males and 18 females aged 23-44 years with a median age of 25 (24, 28.25) years. All subjects received conventional MR protocols and chemical exchange saturation transfer imaging. The manifestation of WML on the k ex map and T 1WI images were assessed while the k ex values of WML, NAWM and normal white matter (NWM) of control group were quantitatively evaluated. Student′s t test was used to compare the k ex difference of WML and NAWM in the case group, NAWM in the case group and NWM in the control group, low-signal and isosignal WML in T 1WI. Spearman rank correlation was used to analyze the correlation of the k ex values of WML with patients′ expanded disability status scale (EDSS) score. Results:A total of 272 WML were found in the 37 RRMS patients, and 25.4% (69/272) were T 1-hypointense. The k ex value of WML in the case group [(932±108) s -1] was higher than that of NAWM [(771±26) s -1], and the difference was statistically significant ( t=8.95, P<0.001); the k ex value of NAWM in the case group [(771±26) s -1 ] was higher than that of NWM [(745±26) s -1] in the control group, and the difference was statistically significant ( t=3.96, P<0.001). The k ex value [(1 039±110) s -1] of WML with low signal at T 1WI was higher than that of WML with equal signal [(895±79) s -1], with a statistically significant difference ( t=9.78, P<0.001). Correlation analysis showed that the k ex value of WML in the case group was positively correlated with the EDSS score ( r=0.54, P<0.001). Conclusions:The elevated k ex values of WML and NAWM reflect the cerebral oxidative stress of RRMS patients and are positively correlated to the severity of tissue damage, which suggests the role of oxidative stress in RRMS lesion formation and brain atrophy.