SPO11基因单核苷酸多态性与陕西回族人群非梗阻性无精症相关性研究

目的探讨SPO11基因单核苷酸多态性在陕西回族非梗阻性无精症人群中的分布及其与无精症发病风险的关联。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法,分析40例陕西回族非梗阻性无精症患者和45例陕西回族正常对照男性SPO11基因SNP位点（rs28368082）的基因分型和等位基因频率,以及其与非梗阻性无精症发病的相关性。结果 SPO11基因SNP位点（rs28368082）的CC,CT两种基因型频率在病例和对照组中分布存在显著性差异（P=0.048）,携带CT基因型的个体患非梗阻性无精症的风险是CC基因型的7.76倍（95%CI=0.89～66.58）。结论SPO11基因SNP位点（rs28368082）与陕西回族人群非梗阻性无精症发病风险存在关联,可能是陕西回族人群非梗阻性无精症的遗传易感基因之一。     

11C-乙酸盐制备方法的改进及生物体内分布

目的 改进美国CTI公乙酸盐(11CAC)自动合成模块流程,提高产量稳定性;用小鼠体内分布、小鼠和正常人体显像验证改进后产品的性能。方法 l.11CAC的制备:猝灭反应水量由原来的0.1~0.2 ml固定在0.2 ml;除杂质和蒸馈温度由135℃提高至145℃;薄层层析法检测放射化学纯度。2.改进后产品件能的验证:(1)体内分布:20只雌性小鼠随机分4组,静脉注射11C-AC后0.5 min、5 min、10 min和20 min处死,计算血及脏器的每克组织的百分注射剂量(lD%/g)。(2)显像:①小鼠2只,注射11C-AC后0.5 min及20 min显像;②正常女性志愿者3例,注射11C-AC后2例行上腹局部早期即刻及全身延迟显像,1例行全身延迟显像和脑显像。结果 1.改进前共合成11CAC 113次,其中61次产量<370 MBq;改进后17次,产量全部>370 MBq。薄层层析法R_f=0.7~0.8,放射化学纯度>90%。2.改进后产品:(1)小鼠体内分布:心、肾内放射性随时间变化最大,胰腺、骨、肝和脾有中度摄取,膀胱、脑放射性最低。(2)显像:①小鼠0.5 min时心脏显影,20 min时肝、脾显影清晰。②正常人早期心、肾及胰腺显影最清晰;延迟期心脏清除最快,肾实质内仍有少量放射性,胰腺内持续高摄取。肝、脾为中度摄取及清除,膀胱和脑内无放射性。结论 美国CT1公司提供的11C-AC自动合成模块经改进反应条件后,产量及放射化学纯度可以满足临床要求。     

Management of pulmonary embolism during acrylic vertebroplasty

A 55-year-old man diagnosed with osteogenesis imperfecta had multiple pulmonary embolism from acrylic cement during vertebroplasty. The patient immediately developed respiratory distress, renal failure, and right cardiac failure. A computed tomographic scan showed the presence of cement in the right and left pulmonary arteries, and in both lungs. Cardiac and respiratory functions did not improve with medical treatment, therefore the patient underwent pulmonary artery embolectomy. Cement was easily removed from both pulmonary arteries. The patient quickly recovered from respiratory and cardiac failure. We believe pulmonary embolectomy is a reliable and effective procedure to treat this rare and dreadful complication of acrylic vertebroplasty.     

Relationship among motor function,ADL disability,and psychological concerns in elderly people with locomotive disorders

Background

Locomotive disorders are one of the main causative pathologies for the condition requiring assistance on activities of daily living (ADL). Although psychological concerns such as feeling of depression and anxiety are prevalent in elderly people, the causal relation among motor function, ADL disability, and psychological concerns is controversial.

Predictive value of neutrophil-to-lymphocyte ratio in diabetic wound healing

Objective

The neutrophil-to-lymphocyte ratio (NLR) has been used as a surrogate marker of systemic inflammation. We sought to investigate the association between NLR and wound healing in diabetic wounds.

A distinctive translocation carcinoma of the kidney [“rosette-like forming,” t(6;11), HMB45-positive renal tumor]

Objective  Recently, a novel renal carcinoma with specific clinical and histological characteristics and translocation t(6;11)(p21.1;q12 or q13) has been identified. We have found 11 cases in the literature, and we are adding another 3 cases. Materials and methods  Three cases were found in the Plzeň pathological register with approximately 15,000 cases of kidney tumors. There were two females and 1 male, aged 22, 24, and 39 years. Results  The sizes of the tumors were 40, 136, and 10 mm. Two tumors were found incidentally; the biggest one was self-palpated by a 24-year-old pregnant patient. Patients are without any signs of disease 42, 20, and 17 months after surgery. Conclusion  This tumor is a distinctive and rare translocation carcinoma of the kidney [t(6;11), HMB45 positive]. All cases with known clinical data arose in younger people. The malignant potential is probably low. The work was supported by Czech government research project MSM 0021620819.     

醛固酮合酶和11-β羟化酶基因多态性与原发性醛固酮增多症发病风险的相关性研究

目的 研究醛固酮合酶基因(CYP11B2)和11-β羟化酶基因(CYP11B1)多态性与原发性醛同酮增多症(PA)发病风险之间的相关性.方法 对醛固酮瘤(APA)和特发性醛崮酮增多症(IHA)患者(APA 134例,IHA 45例)及正常人群(118名)中CYP11B2和CYP1181基因的5个多态性位点进行检测.其中,intron 2采用2个独立的PCR反应,其余位点均采用Taqman探针法.采用Haploview 4.0、SNPassoc 1.5-3和Haplo.stats 1.3.8软件分析CYPllB2和CYP1181基因多态性与PA的关系.结果 所选位点均获成功检测,APA和IHA组中rs6410位点的A等位基因频数显著高于对照组(P=1.09×10-5,P=0.015).与对照组相比,APA组中rs6410位点AA基因型和AG基因型比例增高(P=2.19×10-4),而IHA组中rs6410位点AA基因型和AG基因型仅在年龄、性别和体质量指数校对后比例增高(OR=4.06,95%CJ 1.31～12.66;OR=2.41,95%CI 1.02～5.72).APA组中发现1个易感单体型AAAWT(OR=1.44,95%CI 1.19～1.76),IHA组中发现3个易感单体型AAAWT、AGGWT和AGAWC(OR=1.55,95%CI 1.23～1.96;OR=1.49,95%CI 1.17～1.89;OR:1.40,95%CI 1.04～1.88).同时在APA组中发现1个保护性单体型GGAWT(OR:0.73,95%CI 0.55～0.97).结论 CYP11B2和CYP11B1基因多态性与APA和IHA的发病显著相关.     

An aggressive course of Xp11 translocation renal cell carcinoma in a 28-year-old man

Abstract:   Cases of renal cell carcinoma (RCC) associated with Xp11 translocations are rare and are reported predominantly in children. We report a case of a young man who developed an aggressive Xp11 translocation RCC. A 28-year-old man presented with back pain, fever and macroscopic hematuria. Computed tomography of the abdomen showed a heterogeneous mass in the left kidney. Left radical nephrectomy was performed. Hematoxylin–eosin staining revealed nested and papillary architecture, clear and eosinophilic cytoplasm and vesicles with prominent nucleoli. Immunohistochemical evaluation revealed that the tumor cells showed nuclear labeling for TFE3 protein. On the basis of these findings, the case was diagnosed as Xp11 translocation RCC. This tumor massively recurred and led to the patient's death 2 years after the initial diagnosis. The utility of immunohistochemistry using antibodies against TFE3 in RCC occurring in young adults may be necessary for accurate diagnosis.     

游离脂肪酸激活HaCaT细胞表面TLR对NF-ΚB信号转导通路的影响

目的：观察长链游离脂肪酸对体外培养的角质形成细胞的作用,探讨其对TLR及NF—KB信号转导通路的影响。方法：①体外培养Hacat细胞,实验分为N、PA、SA、LPS四组,N组为正常对照组,软脂酸（Palmitic Acid,PA）750μmol／L、硬脂酸（Stearic Acid,SA）750μmol／L、脂多糖（lipopolysaccharide,LPS）500ng／L和Macat细胞共培养72h组分别为N组、PA组、SA组、LPS组;②LPS、SA与角质形成细胞共培养72h检测LPS、SA对Hacat细胞NF—KB、p-IκBα、IκBα表达的影响。通过免疫印迹法（Weston blot）检测SA、LPS对Hacat细胞TLR2、TLR4、NF—κB、p-IκBα、IκBα表达的影响;Real Time PCR方法检测对Hacat细胞内NF—κB、TNF—α mRNA表达的影响。结果：SA、LPS激活细胞表面TLR后可以明显促进细胞表面TLR2、TLR4表达及细胞内NF—κB、TNF-α等促炎症因子的表达。PA促进Hacat细胞内NF—κB、p-IκBα、IκBα表达无明显影响（P〉0．05）结论：SA可促进角质形成细胞分泌NF-κB、TNF-α等因子表达促进炎症反应;其机制可能为：SA可能通过TLR及NF—κB信号传导通路促进细胞释放NF—κB、TNF—α等促炎因子。