A novel mutation of SETBP1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia

To investigate an oncogenic mutation of SETBP1 in the evolution from acute myelomonocytic leukemia (M4) to secondary aCML. Clinical data and molecular studies were analyzed of paired aCML and 'normal'DNA from a case with M4. We identified a mutation in SETBP1 (encoding a p.Asp868Ala alteration). The analysis of paired sample indicated that SETBP1 mutation was acquired during leukemic evolution.     

基于生物信息学筛选炎症相关结直肠癌基因及其特征分析

目的通过对炎症性肠病差异基因的筛选以及结直肠癌队列生存特征和表达模式的探究,为炎症相关结直肠癌的发生与发展的后续研究提供候选基因。 方法从GEO数据库中选择RNA测序表达谱数据集GSE95473和GSE107597,通过常规转录组表达谱差异分析,筛选出炎症性肠病差异表达基因（DEG）,利用GO数据库获取DEG的功能注释,并利用KEGG数据库进行通路富集分析。同时基于TCGA数据库进一步在结直肠癌数据集中筛选具有预后意义的基因,并评价其在结直肠肿瘤中的表达特征。 结果两个数据集筛选到了共有DEGs 100个,通过主成分分析证实这些基因能够对结直肠癌肿瘤和黏膜区分良好。进一步筛选,获得ALDOB,SPINK4,REG4,IL1B,C2CD4A,CXCL8,NOS2,CXCL3等候选基因。这些基因在结直肠肿瘤中高表达,并且这些基因的高表达往往提示患者预后较好。 结论ALDOB,SPINK4,REG4,IL1B,C2CD4A,CXCL8,NOS2,CXCL3可能在炎症相关结直肠癌的发生发展中发挥重要作用,有待于后续炎癌转化相关功能验证和机制探究。     

CHADS2评分及改良CHADS评分对心房颤动消融术后复发的预测价值

目的：探讨心力衰竭高血压、年龄、糖尿病和脑卒中（包括一过性脑缺血）（CHADS2）评分及改良CHADS评分对心房颤动（房颤）射频消融术后复发的预测价值。方法对2010年7月至2012年3月在我院行射频消融术的93例房颤患者追踪随访12个月,术后1,3,6,9,12个月行12导联心电图或长程心电图检查,结合临床症状及心电图检查结果将其分为复发组（n＝40）和未复发组（n＝53）,采用单因素和多因素分析消融术后房颤复发的危险因素。结果93例房颤患者中持续性房颤35例（37.63%）,随访12个月时复发40例（43.01%）。房颤复发组与未复发组在平均年龄（P＜0.01）、年龄＞70岁（P＜0.05）、病史（P＜0.05）、房颤类型（P＜0.01）、左房内径（P＜0.001）、左室射血分数（P＜0.05）、血细胞比容（P＜0.05）、是否伴心力衰竭（P＜0.05）、是否伴高血压（P＜0.01）、是否伴糖尿病（P＜0.05）、是否有一过性脑缺血或脑卒中史（P＜0.05）、术后是否服用血管紧张素转换酶抑制剂和血管紧张素Ⅱ受体拮抗剂（ACEI/ARB,P＜0.01）、术后是否服用Ⅲ类抗心律失常药（P＜0.05）、CHADS2评分≥1（P＜0.001）等方面差异有统计学意义。logistic回归分析发现,病史、房颤类型、左房内径、CHADS2评分≥1为房颤术后复发的独立危险因素（病史长短：OR＝1.16,P＝0.020;左房内径：OR＝1.17,P＝0.025;房颤类型：OR＝3.34,P＝0.050;CHADS2评分≥1：OR＝5.93,P＝0.019）。进一步分析发现,CHADS2评分≥2、改良CHADS评分≥1、改良CHADS评分≥2亦为房颤术后复发的独立危险因素（CHADS2≥2：OR＝5.42,P＝0.028;改良CHADS评分≥1：OR＝6.64,P＝0.015;改良CHADS评分≥2：OR＝7.32,P＝0.002）。截断点分析显示,CHADS2与改良CHADS均≥1时对房颤消融预后的预测价值最高,对CHADS2评分≥1与改良CHADS评分≥1预测房颤消融预后的灵敏度、特异度、曲线下面积进行比较发现,差异均无统计学意义[分别为0.775 vs 0.800、0.358 vs 0.377、0.708（95%CI 0.601～0.806） vs 0.711（95%CI 0.605～0.818）,均P＞0.05]。结论病史长短、左房内径、房颤类型、CHADS2评分≥1、CHADS2评分≥2、改良CHADS评分≥1、改良CHADS评分≥2均为心房颤动消融术后复发的独立危险因素,且改良CHADS评分与CHADS2评分对房颤消融预后具有同等的预测价值。     

Effects of Sustained‐Release Beraprost in Patients With Primary Glomerular Disease or Nephrosclerosis: CASSIOPEIR Study Results

TRK‐100STP, a sustained‐release preparation of the orally active prostacyclin analogue beraprost sodium, targets renal hypoxia. This study aimed to show the superiority of TRK‐100STP over placebos in patients with chronic kidney disease (with either primary glomerular disease or nephrosclerosis) to determine the recommended dose. CASSIOPEIR (Chronic Renal Failure Asian Study with Oral PGI₂ Derivative for Evaluating Improvement of Renal Function) was a randomized, double‐blind, placebo‐controlled study conducted at 160 sites in seven Asia‐Pacific countries and regions. Eligible patients (n = 892) were randomized to TRK‐100STP 120, 240 μg, or placebo for a treatment period of up to 4 years. The primary efficacy endpoint was time to first occurrence of a renal composite: doubling of serum creatinine or occurrence of end‐stage renal disease. No significant differences were observed in composite endpoints between TRK‐100STP and placebo (P = 0.5674). Hazard ratios (95% CI) in the TRK‐100STP 120 and 240 μg vs. placebo groups were 0.98 (0.78, 1.22) and 0.91 (0.72, 1.14), respectively. The overall incidence of adverse events and adverse drug reactions was comparable between treatment arms.