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1.
《European journal of medical genetics》2022,65(6):104495
Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder. 相似文献
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目的 探究预防性静滴钾离子、镁离子对急性心梗后并发室性心律失常的预防作用。方法 选择2015年1月-2018年1月于西宁市第一人民医院进行治疗的78例急性心肌梗死患者为研究对象,按照随机数字表法将其均分为观察组与对照组,每组各39例患者。对照组患者进行常规急性心梗治疗,观察组患者在对照组基础上加用门冬氨酸钾镁进行治疗,对比两组治疗有效率,对比两组治疗前后血液流变学指标纤维蛋白原(Fib)、凝血酶原时间(PT)、血小板计数(Plt),对比两组治疗期间不良反应发生率及心律失常发生率。结果 治疗后,观察组患者治疗有效率为87.18%,对照组为76.92%,两组对比差异具有统计学意义(P<0.05)。治疗前两组患者Fib、PT以及Plt水平对比差异不具有统计学意义;治疗后,两组患者Plt及Fib水平低于治疗前,PT水平高于治疗前,差异有统计学意义(P<0.05);治疗后观察组患者Plt及Fib水平低于对照组,PT水平高于对照组(P<0.05)。观察组患者不良反应发生率稍高于对照组,但对比差异不具有统计学意义。观察组心律失常发生率为7.69%,对照组为15.38%,两组对比差异具有统计学意义(P<0.05)。结论 预防性静滴钾离子与镁离子能够显著降低急性心梗患者心律失常发生率,同时有利于提高治疗有效率,改善其血流变指标,且安全性较高。 相似文献
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《药学学报(英文版)》2020,10(7):1294-1308
A great challenge in multi-targeting drug discovery is to identify drug-like lead compounds with therapeutic advantages over single target inhibitors and drug combinations. Inspired by our previous efforts in designing antitumor evodiamine derivatives, herein selective histone deacetylase 1 (HDAC1) and topoisomerase 2 (TOP2) dual inhibitors were successfully identified, which showed potent in vitro and in vivo antitumor potency. Particularly, compound 30a was orally active and possessed excellent in vivo antitumor activity in the HCT116 xenograft model (TGI = 75.2%, 150 mg/kg, p.o.) without significant toxicity, which was more potent than HDAC inhibitor vorinostat, TOP inhibitor evodiamine and their combination. Taken together, this study highlights the therapeutic advantages of evodiamine-based HDAC1/TOP2 dual inhibitors and provides valuable leads for the development of novel multi-targeting antitumor agents. 相似文献
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目的 建立小鼠溃疡性结肠炎模型。方法 给小鼠自由饮用5%葡聚糖硫酸钠(DSS)溶液7d后,改为蒸馏水自由饮用10d,如此进行4个循环,每天观察症状。在第1个循环和第4个循环后剖杀小鼠,取出整段结肠行实体显微镜观察及切片组织学研究。结果 所观察的症状、实体显微镜像、组织学病理改变均与人类溃疡性结肠炎类似。结论 此模型制作方法简便,重复性良好,可应用于多种实验研究。 相似文献
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Platelet factor 4 ( PF4) is a negativehematopoietic factor.It can inhibit the prolifera-tion of endothelial cells and hematopoietic stem/progenitor cells,particularly megakaryoryocyticcells,reversibly[1] ,inhibit DNA synthesis,blockcell cycle progression during S phase and reducethe sensibility of normal hematopoietic stem/pro-genitor cells,but not some cancer or leukemia celllines,to cytotoxic drugs and ionizing radia-tion[2 - 3] ,and it also can cause a population in-crease of the stem cel… 相似文献
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Objective Based on the Helical Ventricular Myocardial Band (HVMB) theory proposed by Torrent-Guasp,the ventricular myocardial hand extends from the root of the pulmonary artery to the root of the aorta with two helical coils.This new theory is considered as a revolutionary concept for further understanding the global, three-dimensional and functional architecture of the ven- tricular myocardium. No repot had described techniques for disecting HVMB while keepin~ the integrity of the coronmy artery sys- tern. We explored techniques for dissecting HVMB in swine.Methads 33 fresh swine hearts were randomly divided intoll groups, 3 bearts in each. 160% barium sulfate (type I)suspmmion was injected into the coronary artery system. The coronary arteries were li- gated. The strial tissue was removed following puuing the hearts in boiling water then cooling for several hours. The superficial coro- nary vessels and fat tissue around the atrio-ventricular taxi inter-ventricular sulcus we~'e preserved. Some branches of the left anterior descending artery, distal segment, of posterior descending branch, and middle and distal segment of obtuse marginal branches were mu- tilated appropriately. HVMB dissection was completed with fingers in accordnce with Torrent Guasp' s technique. Results A contin- ued bundle of muscle, originated at the root of pulmonary artery and ended at the root of aorta, was unwrapped along the major dire- tion of the cardiac muscle fiber in all of the 33 hearts with spating of the coronary artery. The swine hearts' ventricular myocandium was cumosed of two loops, with basal loop firm the root of the pulmonart artery to the anterior papillary muscle and apical from the beginning of the anterior papillary muscle to the root tithe aorta. Each loop consisted of two segments: the right segment-coincid- ing with the right ventricular free wall and the left segment-coinciding with the basal d the left ventricular free wall. Posterior papillary muscle, which belongs to the descendant segment, denmrcated the border between the descendent and the ascendant of the HVMB's apical loop. Conclusion Although controversies about the theory of the HVMB remain, we have dissected the HVMB in the swine hearts' ventricular myocardium successfully with sparing of the coronary artery systems. This dissection procedure provides technical information for the studies of associated diseases based on the theory of HVMB. 相似文献
9.
H. Fuder S. Stiegler N. Wetzelsberger G. Wieckhorst R. Lange & P. W. Lücker 《British journal of clinical pharmacology》1997,44(6):527-530
Aims Concomitant administration of magnesium hydroxide may affect the rate or extent of absorption of non-steroidal anti-inflammatory drugs. In order to find out whether or not buffering modifies the pharmacokinetics of ketoprofen, plasma concentration-time courses resulting from oral administration of unbuffered formulations were compared with those of buffered formulations.
Methods Two groups of 12 healthy and young male subjects were included in two randomized cross-over studies and received single oral doses of ketoprofen 12.5 or 25 mg, respectively, given as tablets which were either unbuffered or buffered with magnesium hydroxide/citrate. Ketoprofen enantiomers in plasma were determined by h.p.l.c. up to 24 h post-dose.
Results Maximum plasma concentrations ( Cmax ) of both the (R)- and (S)-enantiomer, observed after administration of the buffered formulations (12.5 and 25 mg), were higher compared with the unbuffered tablets by about 50–80%. The area under concentration-time data (AUC) was unaffected, and, hence, C max /AUC was increased by buffering. Time to C max ( t max ) and mean residence time (MRT) tended to be or was shortened by buffering.
Conclusions It is concluded that buffering of two ketoprofen formulations with magnesium hydroxide/citrate enhanced the concentration maximum by increasing the rate of absorption and leaving AUC unaffected. 相似文献
Methods Two groups of 12 healthy and young male subjects were included in two randomized cross-over studies and received single oral doses of ketoprofen 12.5 or 25 mg, respectively, given as tablets which were either unbuffered or buffered with magnesium hydroxide/citrate. Ketoprofen enantiomers in plasma were determined by h.p.l.c. up to 24 h post-dose.
Results Maximum plasma concentrations ( C
Conclusions It is concluded that buffering of two ketoprofen formulations with magnesium hydroxide/citrate enhanced the concentration maximum by increasing the rate of absorption and leaving AUC unaffected. 相似文献
10.
用液体闪烁计数法测定离体再灌注兔心肌线粒体内45Ca2+的放射性强度.观察三磷酸腺苷-氯化镁冷稀释血停搏液和冷稀释血停搏液对缺血再灌注兔心肌线粒体内45Ca2+的影响.结果表明,在30min以内使用冷稀释血停搏液组兔心肌线粒体内45Ca2+放射性强度高于三磷酸腺苷-氯化镁冷稀释血停搏液组(P<0.05),而60min时冷稀释血停搏液组的放射性强度稍高或接近于三磷酸腺苷-氯化镁冷稀释血停搏液组,差异无显著性(P>0.05).在27例心内直视手术中使用三磷酸腺苷-氯化镁冷稀释血停搏液均获良好效果. 相似文献