Xp11. 2 易位/TFE3 基因融合相关性肾癌( Xp11. 2 tRCC)是2004年WHO肾癌分类中新增的类型,其特征是X染色体短臂一区一带二亚带( Xp11. 2 )的转录因子 E3 (TFE3)发生断裂,并与其他的染色体基因发生平衡易位形成新的TFE3融合基因,使得融合型TFE3蛋白过度表达[1].2016年Xp11. 2 tRCC正式被WHO归类为MiT家族易位性肾癌[2].随着对Xp11. 2 tRCC认识的不断深入,自1986 年第1例Xp11. 2 tRCC被诊断后,关于此病的病例报道不断增多,但以胸水为首发表现的病例尚未见报道.笔者将临床所见1例Xp11. 2 tRCC误诊误治报告如下.
目的 了解深圳市坪山区人民医院近十年内科住院病人疾病谱、病死率、转诊情况的特点及变化规律,为医院建设和学科发展提供依据.方法 提取该院内科2007~2016年所有出院病人的病案首页资料,进行回顾性调查.结果 住院病人疾病顺位总体变化不大,2016年与2007年相比,疾病构成比上升最多的是内分泌营养代谢疾病(9.28% vs4.92%),构成比下降最多的是传染病(4.51% vs 7.95%).内科住院病人共死亡310例,病死率1.76%,对比2007~2011年与2012~2016年无显著性差异(P>0.50);死因构成顺位前3位:心脑血管病、恶性肿瘤、呼吸系统疾病.医嘱转院595例,转诊率3.38%,前后5年对比转诊率上升,有显著性差异(P<0.01);同期非医嘱出院4 055例,非医嘱出院率23.05%.结论 该院内科住院病人构成与省内外大多医院有所不同,病人增长较快、病死率高、转诊率高、非医嘱离院率高.
目的 探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)外周血单个核细胞microRNA(miRNA)表达谱的差异及新miRNA序列.方法 采用Solexa高通量测序技术,对SLE组与正常对照组(NC)测序,比较两组外周血单个核细胞差异性表达miRNAs,进行生物信息学分析,并对部分差异表达基因通过Real-time PCR进行验证.结果 SLE组41种新miRNAs显著差异表达,33种上调,8种下调.结论 差异表达的新miRNAs在SLE的发生发展过程中起重要的调控作用,可能成为早期诊断SLE的新的生物标志物.
Objective Applying nuclear magnetic resonance(NMR)metabolomics approaches to analyze serum metabolic pro-file of patients with LN.Methods Serum samples of twenty-eight paitents with LN,35 patients of SLE without LN were compared with those from 35 healthy people.After preprocessing,all serum samples was detected by 600 Hz NMR spectroscopy.Under multivariate pattern recognition analysis,the differences in endogenous metabolites among the three groups were compared.Results The main differences of metabolites areas were levels of lipid,amino acid ,glucose and creatine.PCA model were capable of distinguishing pa-tients of LN from healthy people in the control group.Conclusion Compared with a single marker,serum metabolites 'fingerprint'based on NMR technology were more expected to become a new method for early diagnosis of LN.
Objective To further improve our hospital in the treatment of primary nephrotic syndrome in terms of the advantages of fruit, analyze and discuss the clinical treatment program while giving standard Western medicine plus the value and signiifcance of Chinese medicine treatment.Methods??The?February 2012 to February 2014 period Nephrology our hospital 56 cases of hospitalized patients with primary nephrotic syndrome as research subjects and in accordance with the principles of randomized double-blind controlled divided into control group and observation group 28 cases, of which control group patients?were?treated?according?to?the?standard?Western?medicine?program,?and?the?basis?of?the?observation?group?were?patients?in?the?control?group?on?the?use?of?traditional?Chinese?medicine?drug?combination?therapy,?observed?in?six?months?after?treatment?control?group?and?observation?group?patients?with?renal?function?improvement.?Results??Statistical?analysis?revealed?that?both?improved?compared?to?the?control?group?and?the?observation?group?and?the?treatment?of?patients?with?renal?function,?but?the?degree?of?improvement?in?the?observation?group?and?the?control?group?compared?to?more?advantage,?and?the?difference?was statistically signiifcant (P<0.05).?Conclusion??For?the?primary?nephrotic?adopt?joint?programs?in?Western?medicine?syndrome?patients?when?treatment?can signiifcantly improve renal function in patients to improve prognosis, and secure, worthy of promotion.
Objective To investigate the influence of endotoxins in serum of burn patients on 4 inflammatory cyto-kines in peripheral blood mononuclear cells of a normal person. Method The peripheral blood mononuclear cells of a nor-mal person were used as subjects for test and the serum of burn patients was used as a stimulus. According to the level of endotoxins contained in their serum, 18 burn patients and 6 healthy volunteers were divided into control group ( 6 healthy volunteers with a serum endotoxin level of 0 U/mL), test group A (6 burn patients with a serum endotoxin level of 0~0?2 U/mL), test group B (6 burn patients with a serum endotoxin level of 0?2~0?4 U/mL), and test group C (6 burn patients with a serum endotoxin level of over 0?4 U/mL) . The serum of all four groups were used respectively to stimulate PBMCs in cell culture for different length of time, after which the concentrations of TNF-α, IL-1β, IL-6 and IL-12 in supernatant of the cell culture of each group were determined by radioimmunoassay and data analysis was conducted. Result TNF-a and IL-6 increased remarkably after being stimulated by endotoxins of various concentrations for various length of time. IL-1βand IL-12 increased greatly only after prolonging the stimulating time. Conclusion TNF-a and IL-6 are two major inflam-matory media in endotoxin induced burn inflammation, their concentrations can increase with the prolonging of time or the increase of endotoxin’ s concentration. However, the concentrations of IL-1βand IL-12 do not change along with the change of endotoxin concentration, they increase gradually along with the prolonging of stimulating time.