Novel TMPRSS6 mutations associated with iron‐refractory iron deficiency anemia (IRIDA)

Mutations leading to abrogation of matriptase‐2 proteolytic activity in humans are associated with an iron‐refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients belonging to 7 unrelated families and identify 10 (9 novel) TMPRSS6 mutations spread along the gene sequence: 5 missense, 1 non sense and 4 frameshift. The frameshift and non sense mutations are predict to result in truncated protein lacking the catalytic domain. The causal role of missense mutations (Y141C, I212T, R271Q, S304L and C510S) is demonstrated by in silico analysis, their absence in 100 control chromosomes and the high conservation of the involved residues. The C510S mutation in the LDLRA domain in silico model causes an intra‐molecular structural imbalance that impairs matriptase‐2 activation. We also assessed the in vitro effect on hepcidin promoter and the proteolytic activity of I212T and R271Q variants demonstrating a reduced inhibitory effect for the former mutation, but surprisingly a normal function for R271Q which appears a silent mutation in vitro. Based on mRNA expression studies I212T could also decrease the total amount of protein produced, likely interfering with mRNA stability. Collectively, our results extend the pattern of TMPRSS6 mutations associated with IRIDA and propose a model of causality for some of the novel missense mutation. © 2010 Wiley‐Liss, Inc.     

磁性固位种植总义齿的应力分析

【目的】了解磁性固位的下颌种植覆盖义齿的应力状况及其分布规律 ,为磁性固位体的临床应用提供生物力学依据。【方法】采用二维光弹应力分析法 ,分析圆柱形种植体在垂直向和侧向加载条件下种植体—骨界面的应力状况。【结果】种植体应力主要为均匀分布的压应力 ,最大应力位于种植体根尖部 ,颈部应力相对较小 ,未见明显弯曲应力。【结论】磁性固位种植义齿的种植体应力分布符合生物力学要求 ,有利于种植体的长期成功     

改良动静脉内瘘术在150例慢性肾衰血液透析患者中的应用

目的：探讨动静脉内瘘的手术方法并观察其临床效果。方法：对150例慢性肾衰患者（其中糖尿病患者20例）和改良动静脉内瘘术：动脉做纵向梭形切口,静脉管腔用肝素盐水稍加压后冲洗,吻合后血管表面滴注罂粟碱。结果：本组150例患者均一次手术成功。术后血液透析中的平均血流量为252ml/min。内瘘平均启用时间为术后12d,对于30例因动静脉内瘘处形成血栓、利用原来的头静脉行二次手术的患者,手术后2d-3d开始启用,血液透析效果满意。结论：动脉做纵向梭形切口不易发生吻合口狭窄,静脉管腔用肝素盐水稍加压冲洗可以扩大管腔,吻合后血管表面滴注罂栗碱可缓解血管痉挛。改良后的动静脉内瘘术有利于提高手术成功率。     

Effects of nano HAP on biological and structural properties of glass bone cement

A novel type of glass-based nanoscale hydroxyapatite (HAP) bioactive bone cement (designed as GBNHAPC) was synthesized by adding nanoscale hydroxyapatite crystalline (20-40 nm), into the self-setting glass-based bone cement (GBC). The inhibition rate of nanoscale HAP and micron HAP on osteosarcoma U2-OS cells was examined. The effects of nanoscale HAP on the crystal phase, microstructure and compressive strength of GBNHAPC were studied, respectively. It was concluded that nanoscale HAP could inhibit the cell proliferation, whereas micron HAP could not, and that nanoscale HAP could be dispersed in the cement evenly and the morphology did not change significantly after a longer immersion time. XRD and FTIR results show nanoscale HAP did not affect the setting reaction of the cement. Furthermore, GBNHAPC had a higher compressive strength (92.6 +/- 3.8 MPa) than GBC (80.1 +/- 3.0 MPa). It was believed that GBNHAPC might be a desirable biomaterial that could not only fill bone defects but also inhibit cancer cell growth.     

维甲酸诱导HL-60细胞分化过程中端粒酶活性与 hTERT,c-myc和bcl-2表达的研究

为了探讨全反式维甲酸(ATRA)诱导HL—60细胞分化过程中端粒酶活性与hTERT，c—myc和bcl—2　mRNA表达的变化规律及其意义，复制HL—60细胞的诱导分化模型，在分化前和分化过程中通过端粒重复序列扩增PCR—ELISA方法测定端粒酶活性，采用RT—PCR方法检测hTERT，c—myc和bcl—2　mRNA表达水平。结果显示，在ATRA诱导HL－60细胞分化过程中，端粒酶活性水平逐渐下降，hTERT　mRNA表达下调的同时c—myc和bcl—2　mRNA表达亦下调，且hTERT　mRNA下调早于端粒酶活性水平下降。结论：全反式维甲酸诱导的HL—60细胞分化过程与端粒酶活性降低和hTERT，c—myc及bcl—2　mRNA表达下降有关。     

Left Ventricular Assist for Pediatric Patients With Dilated Cardiomyopathy Using the Medos Vad Cannula and a Centrifugal Pump

Ventricular assist devices for small pediatric patients are expensive and commercially unavailable in Taiwan. We used the Medos ventricular assist device cannula (Medos, Aachen, Germany) and a centrifugal pump to support pediatric patients with dilated cardiomyopathy and decompensated heart failure. From January 2007 to December 2008, three pediatric patients with dilated cardiomyopathy were supported using a centrifugal pump as the left ventricular assist device. The Medos arterial cannula was sutured to the ascending aorta, and the Apex cannula was fixed into the left ventricular apex. When the patient was weaned off of cardiopulmonary bypass, the left ventricular assist device pump was started. The pump flow was gradually titrated according to the filling status of the left ventricle. All the left ventricular assist devices were successfully implanted and functioned well. Two patients on extracorporeal membrane oxygenation had severe lung edema before left ventricular assist device implantation. Both patients required extracorporeal membrane oxygenation for the postoperative period until the pulmonary edema was resolved. Among the three patients, two successfully bridged to heart transplantation after support for 6 and 11 days, respectively. The first patient (10 kg) expired due to systemic emboli 30 days after left ventricular assist device support. In summary, these results suggest that the Medos ventricular assist device cannula and a centrifugal pump is an option for temporary left ventricular assist device support in patients with intractable heart failure and as a bridge to heart transplantation.     

运动疗法在2型糖尿病治疗中的价值

目的：评价运动疗法在2型糖尿病治疗中的价值。方法：通过对32名2型糖尿病患者进行为期10周的运动治疗，并对血糖等各项指标进行监测。结果：运动治疗后，空腹血糖，餐后2h血糖，糖化血红蛋白均有明显下降，血胰岛素水平有所上升，血胆固醇下降，甘油三脂无变化，HDL上升，LDL下降，BP下降，体重指数无明显变化，尿微量白蛋白运动治疗后有民增加，但均在正常范围，结论：运动疗法能显著降低血糖，血脂和血压，增加胰岛分泌功能。     

山苍子油对实验性心肌梗塞动物缺血性损伤的保护作用

据报道山苍子(Litsea cubeba(LOUR.)pers)油治疗冠心病心纬痛有效,但尚无实验资料证明。此外,已证明游离脂肪酸(FFA)升高在急性心肌梗塞中有重要意义,因此我们对山苍子油保护心肌缺血性损伤及对血FFA的作用进行了初步实验,现将结果简报如下。     

喷他佐辛超前镇痛在腹腔镜胆囊切除术中的应用

目的 观察喷他佐辛对腹腔镜胆切除术(LC)是否具有超前镇痛作用.方法 将60例择期LC患者(ASA分级Ⅰ～Ⅱ级)随机分为研究组和对照组.观察24 h内恶心、呕吐、瘙痒等不良应的发生率.研究组在全麻诱导前静脉缓慢推注喷他佐辛0.5 mg/kg.对照组给予生理盐水推注.记录自主呼吸恢复时间、睁眼时间、拔管时间及术后1、2、4、8、12、24 h的疼痛程度并进行评价.结果 两组呼吸恢复时间、睁眼时间、拔管时间差异无统计学意义(P>0.05);研究组疼痛程度明显低于对照组(P<0.05);术后患者的并发症的发生情况差异无统计学意义(P>0.05).结论 术前应用喷他佐辛0.5 mg/kg能有效减轻腹腔镜胆囊切除术的术后疼痛,起到超前镇痛作用,是一种理想的长效中枢性镇痛方法.