Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome

We report on an adolescent who experienced the onset of linear nevus sebaceous syndrome (LNSS) prior to 1 year of age. At 7 years of age he was diagnosed to have hypophosphatemic rickets. He was suboptimally controlled with phosphate and calcitriol treatment and sustained numerous insufficiency fractures ipsilateral to the linear sebaceous nevus. Fibroblast growth factor-23 (FGF-23), the phosphaturic peptide, was elevated in the plasma. Treamtent with the somatostatin agonist, octreotide, and excision of the nevus were followed by normalization of FGF-23 and clinical improvement. The patient also had hyperimmunoglobulinemia E, which responded to octreotide and surgery. We speculate that in some patients with LNSS there may be more than one mediator of hypophosphatemia and that FGF-23 is the mediator of hyperphosphaturia in this and other hypophosphatemic syndromes.     

Gated CT imaging using a free-breathing respiration signal from flow-volume spirometry

Respiration-induced tumor motion is known to cause artifacts on free-breathing spiral CT images used in treatment planning. This leads to inaccurate delineation of target volumes on planning CT images. Flow-volume spirometry has been used previously for breath-holds during CT scans and radiation treatments using the active breathing control (ABC) system. We have developed a prototype by extending the flow-volume spirometer device to obtain gated CT scans using a PQ 5000 single-slice CT scanner. To test our prototype, we designed motion phantoms to compare image quality obtained with and without gated CT scan acquisition. Spiral and axial (nongated and gated) CT scans were obtained of phantoms with motion periods of 3-5 s and amplitudes of 0.5-2 cm. Errors observed in the volume estimate of these structures were as much as 30% with moving phantoms during CT simulation. Application of motion-gated CT with active breathing control reduced these errors to within 5%. Motion-gated CT was then implemented in patients and the results are presented for two clinical cases: lung and abdomen. In each case, gated scans were acquired at end-inhalation, end-exhalation in addition to a conventional free-breathing (nongated) scan. The gated CT scans revealed reduced artifacts compared with the conventional free-breathing scan. Differences of up to 20% in the volume of the structures were observed between gated and free-breathing scans. A comparison of the overlap of structures between the gated and free-breathing scans revealed misalignment of the structures. These results demonstrate the ability of flow-volume spirometry to reduce errors in target volumes via gating during CT imaging.     

New evidence for,and challenges in,linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

We recently reported a significant increase in the frequency of carriers of grey zone (GZ) alleles of FMR1 gene in Australian males with Parkinson's disease (PD) from Victoria and Tasmania. Here, we report data comparing an independent sample of 817 PD patients from Queensland to 1078 consecutive Australian male newborns from Victoria. We confirmed the earlier finding by observing a significant excess of GZ alleles in PD (4.8%) compared to controls (1.5%). Although both studies provided evidence in support of an association between GZ‐carrier status and increased risk for parkinsonism, the existing evidence in the literature from screening studies remains equivocal and we discuss the need for alternative approaches to resolve the issue.     

定量组织速度成像技术评价阿霉素诱导兔心肌病模型：与常规经胸超声心动图比较

目的:采用定量组织速度成像技术评价阿霉素诱导兔心肌病模型,并与常规经胸超声心动图比较其评估优势。方法:实验于2005-06/2006-08在大连医科大学完成。①实验分组及处理:取纯种新西兰白兔22只,雌雄不限,随机分成阿霉素组12只,给予阿霉素每次2mg/kg,以1g/L耳缘静脉注射,每周1次,注射8周;对照组10只每周注射2mL/kg生理盐水,共8周。②实验评估:每周应用HPSonos5500型彩色多普勒超声诊断仪(美国Agilent公司生产)对两组兔心脏进行左室收缩末期和舒张末期内径明、室间隔厚度、E峰、射血分数、左室短轴缩短率等常规超声参数测量,使用GEVivid7型彩色多普勒超声诊断仪(美国GE公司生产)进行收缩期和舒张期峰值速度、收缩期加速度定量组织速度成像参数测定。结果:22只兔进入统计。①对照组1～12周各参数与阿霉素组基础状态下比较无明显差异(P>0.05)。②第4周阿霉素组二尖瓣环运动的平均收缩期和舒张期峰值速度、收缩期加速度较基础状态明显减低(P均<0.05)。③第7周阿霉素组二尖瓣环运动的收缩期和舒张期峰值速度、收缩期加速度较基础状态明显减低(P<0.01),E峰较基础状态明显减低(P<0.05)。④第8周阿霉素组二尖瓣环运动的收缩期和舒张期峰值速度、收缩期加速度较基础状态明显减低(P<0.01),E峰较基础状态明显减低(P<0.01),左室收缩末期和舒张末期内径明显增大(P<0.05)。⑤第12周阿霉素组二尖瓣环运动的收缩期和舒张期峰值速度、收缩期加速度较基础状态明显减低(P<0.01),左室收缩末期和舒张末期内径明显增大(P<0.01),室间隔厚度、左室后壁厚度明显变薄(P<0.05),射血分数、左室短轴缩短率和E峰明显减低(P<0.01)。结论:定量组织速度成像参数可有效评价阿霉素诱导心肌病模型兔心肌的病理变化,较常规超声参数更敏感。     

高密度脂蛋白对HepG2细胞代谢综合征相关新基因MSRG表达的影响

目的:观察高密度脂蛋白对HepG2细胞代谢综合征相关新基因MSRG表达的影响。方法:实验于2006-03/10在四川大学华西基础医学与法医学院医学分子生物学省级重点开放实验室完成。设计MSRG引物及Taqman探针,构建标准质粒,建立RealtimePCR定量检测MSRG表达的方法。以含5%无脂蛋白血清的低糖DMEM培养基培养HepG2细胞,分别加入不同浓度的高密度脂蛋白(0,25,50,100,200mg/L)孵育24h;以含100mg/L高密度脂蛋白的5%LPDS低糖DMEM培养基孵育HepG2细胞不同时间(0,6,12,24,36h),分别以0mg/L及0h为对照,通过RealtimePCR检测MSRG的表达。结果:①不同浓度高密度脂蛋白孵育细胞时,在0～100mg/L范围,MSRG表达随高密度脂蛋白浓度的增加有下降趋势;与0mg/L组相比,MSRG在50,100mg/L组表达差异具有显著性意义(P<0.05);与100mg/L组相比,高密度脂蛋白200mg/L组基因表达有所回升,但差异无显著性意义(P>0.05)。②不同高密度脂蛋白孵育时间0～24h组,MSRG表达随时间延长有下降趋势;与0h相比,12,24,36h组基因表达降低(P<0.05),24h组MSRG表达最低;与24h组相比,MSRG在高密度脂蛋白孵育36h组表达有所回升,但差异无显著性意义(P>0.05)。结论:在低浓度(0～100mg/L)及短时间内(0～24h)高密度脂蛋白可以抑制HepG2细胞MSRG的表达。     

Effects of muscarinic receptor stimulation and nitric oxide synthase inhibition on gastric tone and gastric myoelectrical activity in canines

Aims:  This study was designed to assess whether the muscarinic receptor stimulation and nitric oxide synthase inhibition were equally effective on gastric fundic tone or gastric myoelectrical activity (GMA) in canines, and the correlation between gastric fundic tone and GMA.
Methods:  Gastric fundic tone and GMA were recorded on seven dogs implanted with serosal electrodes and a gastric cannula.
Results:  Bethanechol and L-nitro-N-arginine (L-NNA) significantly increased gastric fundic tone; gastric volume was decreased with bethanechol or L-NNA ( P  < 0.05). Increased spike activities were observed after both bethanechol and L-NNA. The percentage of slow waves superimposed with spikes was increased with bethanechol ( P  < 0.001) and L-NNA ( P  < 0.05). There was a significant reduction in dominant frequency (DF) ( P  < 0.05), dominant power (DP) ( P  < 0.05) and percentage of normal slow waves (%N) ( P  < 0.05) with bethanechol, while no significant change was observed with L-NNA. The variation of gastric tone was not correlated with parameters of GMA.
Conclusions:  Muscarinic receptor stimulation and nitric oxide synthase inhibition have similar effects on gastric tone and gastric spike activities, but different effects on gastric slow waves. Gastric fundic tone does not correlate with gastric slow waves.     

兔口服炔诺酮肟和炔诺酮的药代动力学

本文用高效液相色谱分离、液闪测定放射性的方法,测定了兔口服炔诺酮肟(NETO)和炔诺酮(NET)的血浓,并比较了二者的药代动力学参数。结果表明:二者吸收迅速,从血中的消除均呈快慢两个时相。NETO在兔体内一部分迅速转变为NET,另一部分则以原药形式存在,24 h内NETO与其代谢产物NET在血清中的浓度大致各占一半。兔口服NETO与NET后,血浓—时间曲线符合二室模型,NETO的达峰时间比NET短,二者有显著差异(P<0.05),其它动力学参数无明显差异(P>0.05)。