A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S

Protein S (PS) is a member of the vitamin K-dependent protein family containing similar γ-carboxyglutamic acid (Gla) domains, although only PS has a thrombin-sensitive region (TSR), which is located between the Gla domain and the first epidermal growth factor-like domain. In this study, a novel PROS1 mutation was identified at the last nucleotide in intron C (c.260-1G > A) in a patient suffering from recurrent deep vein thrombosis associated with PS deficiency. To investigate the molecular mechanisms of PS deficiency caused by the novel PROS1 mutation, we characterized the mutant mRNA, and the secretion and function of the mutant PS molecule associated with the mutation. RT-PCR was used to detect the aberrant mRNA in the patient's platelets, the amount of which was markedly reduced and lacked the region corresponding to exon 4 coding the TSR of the PS molecule. The recombinant mutant PS lacking the TSR (TSR-lack PS) showed a markedly reduced transient expression/secretion level, 37.9% of that of wild-type (WT) PS. Activated protein C (APC) cofactor activity assay showed that TSR-lack PS had no cofactor activity. Moreover, binding assays of monoclonal antibodies recognizing the PS Gla domain and the Gla residues indicated that the bindings of TSR-lack PS to both of these antibodies were clearly weaker than those of WT PS. These findings suggest that the novel mutation leading to the absence of the TSR not only affected the secretion of mutant PS, but was also responsible for impairment of the Gla domain conformation required for the γ-carboxylation to express APC cofactor activity.     

下肢深静脉血栓形成HR分型对介入溶栓疗效的价值分析

目的探讨下肢深静脉血栓形成MR1分型对介入溶栓疗效的价值分析。方法收集我院20092012年80例下肢深静脉血栓形成病者资料进行回顾分析,所有患者均通过MRI检查确定血栓的急性、亚急性、慢性分型,并于48小时内进行DsA介入溶栓治疗。结果80例下肢深静脉血栓形成的MRl分型：急性42例,介入溶栓完全再通率为95．24％;亚急性23例,介入溶栓完全复通率为78．26％;慢性15例,介入溶栓完全复通率为60．0O％。MRI血栓分型与DsA溶栓复通疗效比较差异有统计学意义（X2=13．79,P〈0．005）。培论下肢深静脉血栓形成MRl分型,可作为DsA介入溶栓的量化指标之一,对临床治疗方案的选择有十分重要的指导意义,是值得推广。     

彩色多普勒血流显像监测下肢深静脉血栓的治疗

目的：探讨彩色多普勒血流显像（CDFI）在治疗下肢深静脉血栓（DVT）中的作用。方法：对78例临床确诊为DVT的132条静脉,在每个疗程后做一次CDFI检查,半年后每半年做一次CDFI检查,连查两年。结果：DVT不同时期其CDFI具有不同的特征性表现。结论：CDFI可用来监测DVT的治疗过程。     

循证护理在预防老年人股骨骨折术后深静脉血栓的临床价值

目的探讨循证护理对预防下肢深静脉血栓的价值。方法对41例老年股骨颈骨折手术患者进行循证护理后的临床资料进行回顾性分析。结果 41例患者均无出现术后下肢深静脉血栓。结论循证护理将护理研究和护理实践有机地结合起来,提高了护理质量。     

急性DVT患者临床诊治探索

DVT是常见病,此病可后遗下肢水肿、继发性静脉曲张、皮炎、色素沉着、郁滞性溃疡等,要积极预防早期发现,及时溶栓抗凝治疗不但可减轻DVT并发症,还可以预防肺栓塞发生,减少患者经济负担,挽救患者生命。     

骨科大手术后下肢深静脉血栓形成的中医药临床研究概况

随着骨科大手术(包括人工全髋关节置换术THR,人工全膝关节置换术TKR和髋部周围骨折手术HFS)[1]的普遍开展,其术后并发症越来越受到临床医生的重视,下肢深静脉血栓(DVT)是骨科大手术后的严重并发症之一。据统计,国外骨科大手术后DVT发生率THR为42%～57%,TKR为41%～85%以及HFS 46%～60%[1]。一项亚洲7个国家19个骨科中心407例骨科大手术术后DVT发生率调查研究[2]表明,经静脉造影证实深静脉血栓形成发生率为43.2%(120/278)。近年来,中医药对骨科大手术后DVT的研究、预防和治疗,也日益重视,并取得了较好的临床效果[3]。     

凝血指标监测对骨创伤及术后形成DVT的临床诊断价值

目的监测纤维蛋白原（Fib）、D-二聚体（D-Dimer）、P-选择素（P-selectin）探讨其在骨创伤深静脉血栓形成中的临床诊断价值。方法选择创伤骨折及关节置换患者223例，经彩色多普勒确诊的DVT患者45例。正常对照组为健康查体者40例。Fib测定采用PT导出法，D—Dimer测定采用散射比浊法，P-selectin测定采用酶联免疫吸附双抗体夹心法。结果Fib、D—Dimer、P—selectin在健康对照组、创伤骨折组及DVT组的结果比较，具有显著性差异（P〈0．05），且不同创伤骨折组之间Fib、D—Dimer、P-selectin阳性率的比较，均有显著性差异（P〈0．05）。D—Dimer、P-selectin在关节置换组中DVT组与非DVT组之间术前比较无显著性差异，而术后比较有显著性差异（P〈0．05）。结论检测创伤骨折患者Fib、D—Dimer、helectin对排除刨伤后DVT形成具有临床实用价值。     

骨科大手术前后凝血系统相关指标改变对监测DVT发生的意义

目的:探讨骨科大手术后机体凝血系统改变有关指标检测的临床意义。方法:对39例骨科大手术患者术前24h、术后24h和72h分别进行血小板计数(PLC)、活化部分凝血活酶时间(APTT)、凝血酶原时间(PT)、凝血酶时间(TT)和纤维蛋白原定量(FIB)测定。结果:有8例并发深静脉血栓形成(DVT),其术前24h与术后24h和72h的PLC、APTT和FIB检测结果有显著性差异(P<0.05)。并发DVT组与未并发DVT组比较,术前APTT和FIB检测结果无显著性差异(P>0.05),术后24h、72h有显著性差异(P<0.05)。结论:血小板(PLC)、活化部分凝血活酶时间(APTT)和纤维蛋白原定量(FIB)动态监测对骨科大手术后并发DVT具有早期诊断价值。     

下肢深静脉血栓形成83例的病因分析

目的：探索下肢深静脉血栓形成的发病原因。方法：回顾1994年1月至2003年1月10年来所收集病人资料83例。结果：48例(占58％)病人病因明确，35例(占42％)病因不明。结论：血液高凝状态、下肢静脉血流缓慢、静脉内膜损伤三个因素综合作用造成了下肢深静脉血栓形成的发生。术后早期下床活动、抗血小板聚集可预防下肢深静脉血栓形成的发生。     

Higher altitude leads to increased risk of venous thromboembolism after acetabular and pelvic ring injury

IntroductionThere is a high post-operative incidence of venous thromboembolisms (VTEs), specifically deep vein thrombosis (DVT) and pulmonary embolism (PE), in pelvic ring and acetabular fractures, and identification of risk factors for VTEs is crucial to decrease this highly morbid complication. High altitudes have a known physiological effect on the body that may predispose patients to developing VTEs in the postoperative period. The purpose of this study was to investigate the relationship between pelvic ring and acetabular fractures occurring at high altitudes and the development of postoperative VTEs.MethodsIn this retrospective study, the Truven MarketScan claims database was used to identify patients who underwent surgical fixation of a pelvic ring and/or acetabular fracture from January 2009 to December 2018 using Current Procedural Terminology (CPT) codes. Patient characteristics, including medical comorbidities, were collected. The zip codes of where the surgeries took place were used to determine recovery altitude and patients were separated into either the high altitude (>4000 feet) or low altitude (<100 feet) cohorts. Chi-squared and multivariate analyses were performed to investigate the association between altitude and the development of VTE postoperatively.ResultsIn total, 68,923 patients were included for analysis. At 30-days postoperatively, a higher altitude was associated with increased odds of developing a PE (OR 1.47, p = 0.019). At 90-days postoperatively, a higher altitude was associated with increased odds of DVT (OR 1.24, p = 0.029) and PE (OR 1.63, p < 0.001).ConclusionSurgical fixation of pelvic ring and acetabular fractures performed at a higher altitude (>4,000feet) are associated with increased odds of developing a PE in the first 30 days as well as developing a DVT or PE at 90 days postoperatively. Future prospective studies are needed to further elucidate the causality of altitude on the development of postoperative VTEs.