Efficacy and prognostic factors in children with non-core binding factor acute myeloid leukemia / 中国当代儿科杂志

OBJECTIVE@#To compare the efficacy of the CAMS-2005 and CAMS-2009 regimens in treating children with non-core binding factor acute myeloid leukemia (non-CBF AML) and to study the prognosis factors.@*METHODS@#A total of 161 children who were initially diagnosed with non-CBF AML from April 2005 to December 2015 were enrolled as study subjects, and were divided into a CAMS-2005 regimen group (n=52) and a CAMS-2009 regimen group (n=109) according to the chemotherapy regimen provided. The efficacy was retrospectively compared between the two groups.@*RESULTS@#The complete remission (CR) rate at the first course of treatment was higher in the CAMS-2009 regimen group than that in the CMAS-2005 regimen group (63.3% vs 46.2%; P0.05). Children who achieved CR at the first course of treatment had significantly higher OS and event-free survival rates than those who did not achieved CR (P<0.01).@*CONCLUSIONS@#The CAMS-2009 regimen is superior to the CAMS-2005 regimen in improving the CR rate in children with non-CBF AML after induction treatment. Whether CR is achieved at the first course of treatment can affect the OS rate of children with non-CBF AML.

Clinical features and prognosis of core binding factor acute myeloid leukemia in children / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features and prognosis of core binding factor acute myeloid leukemia (CBF-AML) in children.@*METHODS@#A retrospective analysis was performed from the chart review data of children who were newly diagnosed with CBF-AML in the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, from August 2009 to November 2015. According to the type of fusion gene, the children were divided into CBFB-MYH11 and AML1-ETO groups. Clinical features and prognosis were analyzed and compared between the two groups.@*RESULTS@#A total of 91 children with CBF-AML were enrolled in this study, among whom there were 74 (81%) in the AML1-ETO group and 17 (19%) in the CBFB-MYH11 group. Additional chromosomal abnormalities were observed in 38 children (42%), and deletion of sex chromosome was the most common abnormality and was observed in 28 children (31%). After the first course of induction treatment, the complete remission rate was 97% (88/91), the recurrence rate was 29% (26/91), the 5-year event-free survival (EFS) rate was 65%±6%, and the 5-year overall survival (OS) rate was 75%±5%. There were no significant differences between the AML1-ETO and CBFB-MYH11 groups in 5-year EFS rate (62%±7% vs 77%±11%, P>0.05) or 5-year OS rate (72%±6% vs 88%±9%, P>0.05).@*CONCLUSIONS@#AML1-ETO is the main type of fusion gene in children with CBF-AML, and deletion of sex chromosome is the most common type of additional chromosomal abnormalities. Children with CBF-AML often have a good prognosis, and the children with AML1-ETO have a similar prognosis to those with CBFB-MYH11.

A Homozygotic Mutation in may Cause Keratinization Disorders and Thrombocytopenia: A Case Report / 中国医学科学杂志(英文版)

Pathogenic mutations in 3-keto-dihydrosphingosine reductase (KDSR) gene are associated with keratinization disorders and impaired platelet function. However, no case with both homozygotic mutation of and hepatic hemangioendothelioma has ever been reported due to its low prevalence. Here we report a seven months old Chinese boy with a homozygotic missense mutation in and both of his parents carry a same heterozygous mutation. He was born with thick plate-like scales overlying erythrodermic skin, but the skin symptoms were resolved spontaneously over the first month of his birth. He was also diagnosed with hepatic hemangioendothelioma at birth and accepted a resection surgery at 2 months old. At birth, his platelet count was severely low (10-20×10/L) with recurrent skin and gingival bleeding. Meanwhile, he suffered a mild normocytic, normochromic anemia with normal iron and hematinic levels. The anemia spontaneously recovered over the first 6 months, while the platelet count keeped at a low level (4-20×10/L). Treatment with corticosteroids, immunoglobulin or thrombopoietin was all suboptimal.

Navitoclax Combined with Daunorubicin Promotes Apoptosis of Erythroleukemia Cell Lines K562, HEL and TF-1 / 中国实验血液学杂志

OBJECTIVE@#To study the effect of apoptotic drug Navitoclax (NTX) combined with chemotherapy drug Daunorubicin (DNR) on apoptosis of erythroleukemia cells.@*METHODS@#K562, HEL and TF-1 cells in logarithmic growth phase were treated with NTX, DNR and combination of the two drugs. CCK-8 test, Annexin V-DAPI double-staining flow cytometry, real-time RT-PCR were used to detect cell growth, cell apoptosis and expression of BAX, BAK, BCL-2, BCL-xl and BIM respectively. The effects of NTX, DNR and combination of the two drugs on apoptosis of K562, HEL and TF-1 cells were compared and analyzed.@*RESULTS@#NTX combined with DNR could significantly inhibit the growth of K562, HEL and TF-1 cells; Apoptosis detection results showed that the apoptotic rate of K562, HEL and TF-1 cells in combination group was significantly higher than that in NTX and DNR single group; the expression level of apoptosis-related genes BAK and BAX in K562 cells in combination group was significantly higher than that in two single drug groups, and the expression level of anti-apoptotic protein genes BCL-2 and BCL-xl was significantly lower than that in two single drug groups (P＜0.05); the expression level of BAK in HEL cells treated with combined drugs for 24 hours was higher than that in DNR group (P ＜ 0.05); the expression level of BCL-2 in TF-1 cells treated with combined drugs for 24 hours was lower than that in two single drugs groups while the expression level of BAK in 48 hours was the highest in combined drugs group, and the expression level of BCL-2 and BCL-xl in combined drugs group was lower than that in NTX group (P＜0.05).@*CONCLUSION@#NTX combined with DNR can significantly promote the apoptosis of erythroleukemia cell lines K562, HEL and TF-1, and induce the expression of apoptosis-related genes. This study provides a new scheme for the clinical treatment of erythroleukemia.

Analysis on the associated factors of adult urolithiasis in China based on two-level Logistic regression model / 中华疾病控制杂志

Objective To investigate the risk factors of adult urolithiasis in China. Methods 14 areas including 11 communities and 19 villages were randomly selected from 7 provinces of China by multi-stage stratified cluster sampling method during the period of May 2013 to July 2014. Individuals were investigated by a face-to-face questionnaire and a physical examination including urinary tract ultrasonographic examinations, routine blood and urine tests and blood biochemical examination ect. Results In total, 1 447 participants were found with the urolithiasis among 9 310 individuals and the overall prevalence was 15.5% (1 447/9 310). The prevalence of urolithiasis was significantly different among 14 areas ( 2=711.523，P<0.001), the lowest was the village in Shanxi (0.76%) and the highest was the village in Guangdong(35.99%). The intercept-only model further indicated the reginal aggregation for the individuals of urolithiasis (t=2.48, P=0.027) and the ICC was 48.74%. The two-level Logistic regression model showed that the gender (OR=1.235, 95% CI:1.082-1.411, P=0.005), age (OR=1.101, 95% CI:1.047-1.158, P=0.001), diabetes mellitus (OR=1.411，95%CI:1.192-1.670, P=0.001), family history of urinary calculi (OR=1.867, 95% CI:1.500-2.323, P<0.001), LDL (OR=1.150, 95% CI:1.050-1.260, P=0.006), drinking coffee (OR=1.352, 95% CI:1.065-1.716, P=0.017) and drinking sodas (OR=1.547, 95% CI:1.203-1.990, P=0.002) were the risk factors for urolithiasis. By contrast, consumed more fermented vinegar (OR=0.567, 95% CI:0.498-0.645, P<0.001) and had a amount of legume (OR=0.726, 95% CI:0.628-0.839, P<0.001) were protective factors of urolithiasis. Conclusion The prevalence of urolithiasis among adults reveal an aggregation in area-level, influenced by life environment and dietary habits of individual.

Clinical features of Wiskott-Aldrich syndrome: an analysis of 13 cases / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of Wiskott-Aldrich syndrome (WAS) in children.@*METHODS@#A retrospective analysis was performed for the clinical data of 13 children with WAS.@*RESULTS@#All 13 children were boys, with a median age of onset of 3 months (range 1-48 months) and a median age of 24 months (range 1-60 months) at the time of diagnosis. Of the 13 children, only 3 had typical WAS and the remaining 10 children had X-linked thrombocytopenia (XLT). The mean WAS score was 2 (range 1-3), the mean platelet count was 20.5×10/L [range (13-46)×10/L], and the mean platelet volume was 8.1 fl (range 6.7-12.1 fl). Lymphocyte subsets and immunoglobulins were measured for 4 children, among whom 1 (25%) had a reduction in both the percentage of CD3T cells per lymphocyte and lymphocyte per nuclear cells, 1(25%) had a reduction in CD3CD56 NK cells. Among these 4 children, 1 (25%) had an increase in IgG, 2 (50%) had a reduction in IgM, 1 (25%) had a reduction in IgA, and 4 (100%) had an increase in IgE. A total of 14 gene mutations belonging to 13 types were found in 13 children, among which there were 9 missense mutations (65%), 2 splicing mutations (14%), 2 nonsense mutation (14%), and 1 frameshift mutation (7%). The median follow-up time was 39 months (range 3-62 months), and all 13 children survived.@*CONCLUSIONS@#Children with WAS often have a young age of onset, and most of them are boys. Major clinical features include thrombocytopenia with a reduction in platelet volume. Missense mutation is the main type of gene mutation.

Rapid analysis of chemical components in Zizyphi Spinosae Semen by UHPLC-LTQ-Orbitrap-MS / 中国中药杂志

This study aimed to analyze the chemical components of Zizyphi Spinosae Semen by using ultra high performance liquid chromatography-linear ion trap/orbitrap high resolution mass spectrometry (UHPLC-LTQ-Orbitrap-MS). The chromatographic separation of the components was achieved on a Waters Acquity UPLC BEH-C₁₈ column (2.1 mm×50 mm, 1.7 μm), with acetonitrile-water (0.1% formic acid) as mobile phase at a flow rate of 0.3 mL·min⁻¹. Electrospray ionization-(ESI) source was applied and operated in negative ion mode. The parent ion list (PIL)-MS₂ and high energy collision dissociation (HCD) techniques were used to identify triterpene saponins in Zizyphi Spinosae Semen. Through analysis of the mass spectrometry data and literature data, 24 compounds and 4 unknown compounds were identified and inferred, including 21 flavonoids, 5 saponins and 2 triterpenoids. The use of UHPLC-LTQ-Orbitrap-MS technology provide an efficient and rapid analytical method for the qualitative analysis and quality control of the chemical components in Zizyphi Spinosae Semen. It can also provide reference data for the research on the material basis of pharmacodynamics and the resources development and utilization.