北京某医院中年健康体检人群血栓弹力图检测结果分析

目的 分析北京某医院中年健康体检人群血栓弹力图检测结果.方法 随机抽取163名在我院进行血栓弹力图检测的中年健康体检人群,对检测结果进行分析.结果 男性组与女性组血栓弹力图(thromboelastography,TEG)参数中R值比较差异无统计学意义(P＞0.05),K值、Angle角与MA值组间比较差异有统计学意义(P＜0.05);男性中年TEG异常率为11.70％,女性中年TEG异常率为13.04％,组间比较差异无统计学意义(x2=0.070,P＞0.05).结论 血栓弹力图检测能够评估机体的凝血状态,对于预防血栓及出血事件具有积极意义.     

72例患者用国产与进口试剂在TEG5000检测的结果对比

目的 本研究旨在通过比对重庆鼎润试剂(国产)与原装试剂(进口)在TEG5000血栓弹力图仪上的检测结果，探讨该国产试剂在本实验室血栓弹力图(thromboelas-stogram, TEG)诊断和监测凝血异常治疗方面的价值。方法 用国产试剂与进口试剂在TEG5000上同时检测72份患者样本的TEG参数值，并收集72份样本凝血酶原时间(PT)、活化部分凝血活酶时间(APTT)、纤维蛋白原(FIB)、血小板计数(PLT)的结果，对两种试剂TEG检测反应时间(R)、凝血时间(K)、α角(Angle α)和最大振幅(MA)等参数结果的一致性以及TEG检测参数与常规凝血检测结果的相关性进行统计学分析。结果 国产与进口两组试剂的TEG检测参数R、K、α角和MA等比较差异无统计学意义，P>0.05。将72份样本按患者疾病进行分组，5组不同诊断的患者标本使用国产与进口试剂检测结果比较，R值、K值、Angle α、MA值结果一致，差异无统计学意义，P>0.05。与常规凝血检测结果的相关性分析中，两组试剂的R与常规凝血检测中的PT和APTT值具有较强的相关性，P<0.05。两组试剂的K值...     

脑缺血性脑卒中患者血栓弹力图检查结果分析

目的 探讨脑缺血性脑卒中患者血栓弹力图（TEG）检查价值和结果。方法 选取2016年1月~2018年2月我院收治的46例缺血性脑卒中患者设为观察组,46例非缺血性脑卒中患者设为对照组,两组均行TEG检查。对照组不作干预,观察组行阿替普酶静脉溶栓治疗,比较分析两组溶栓前及观察组溶栓前后凝血反应时间（R值),凝血形成时间（K值）、血栓最大弹力度（MA值）、凝固角（Angle角）结果。结果 溶栓前,观察组R值和K值低于对照组,MA值、Angle角高于对照组,差异有统计学意义（P＜0.05）。溶栓后1 h,观察组R值和K值高于溶栓前,Angle角和MA值低于溶栓前,差异有统计学意义（P＜0.05）。溶栓后3 h,观察组R值和K值高于溶栓前,差异有统计学意义（P＜0.05）;Angle角和MA值与溶栓前比较,差异无统计学意义（P＞0.05）。溶栓后12 h,观察组R值、K值、Angle角和MA值与溶栓前比较,差异无统计学意义（P＞0.05）。结论 TEG检查可有效反映缺血性脑卒中患者的血凝状态,为该病临床诊疗提供参考依据。     

肝细胞肝癌患者血小板减少与血栓弹力图指标相关性

目的:探讨肝细胞肝癌患者(HCC)血小板(PLT)减少与血栓弹力图(TEG)指标的关系。方法:104例PLT计数小于40×109/L欲行射频消融治疗HCC患者(实验组)和82例凝血功能和PLT计数正常者(对照组),均于治疗前同日进行PLT计数和TEG指标凝血反应时间(R值)、凝血块形成时间(K值)、凝血固定角(Angle角)、凝血最大幅度(MA)和综合凝血指数(CI)检测,比较两组TEG各指标的组间差异,分析实验组患者PLT计数与TEG各指标的相关性以及104例低值PLT患者的PLT功能分级分布。结果:(1)实验组与对照组比较,除R值差异无统计学意义外(P0.05),实验组K值较对照组明显延长(P0.01),Angle角、MA明显小于对照组(P0.01),CI明显大于对照组(P0.01)。(2)实验组PLT计数与TEG指标R值、K值呈显著负相关(r值分别为-0.238、-0.597,P0.05);与Angle角、MA、CI呈显著正相关(r值分别为0.522、0.689、0.343,P0.05)。(3)104例低值PLT患者中,依据MA值高低分析PLT功能,其中19例PLT功能正常(18.27%)、27例PLT功能不良(25.96%)、32例PLT功能较差(30.77%)、26例PLT功能缺失(25.00%)。结论:应用TEG评价PLT减少性凝血功能异常对提高HCC患者择期射频消融手术等临床治疗安全性和患者预后判断有积极意义。     

血栓弹力图及凝血指标在妊娠期高血压疾病中的临床研究

目的:探讨血栓弹力图(Thromboelastogram,TEG)及凝血指标在妊娠期高血压疾病(Hypertensive disorders in pregnancy,HDP)中的临床应用.方法:选取 2022 年1 月至 2023年 6 月我院收治的HDP孕妇 60 例为研究对象,根据疾病情况分为高血压(Gestational hypertension,GH)组 28 例、子痫前期(Preeclampsia,PE)组 20 例、重度子痫前期(Severe preeclampsia,SPE)组 12 例,选取无妊娠合并症孕妇 40 例作为对照组,比较四组TEG及凝血指标,分析两种检测指标相关性及高凝状态阳性率.结果:凝血酶原时间(Prothrombin time,PT)、凝血酶时间(Thrombin time,TT)、活化部分凝血活酶时间(Activated partial thromboplastin time,APTT)、凝血反应时间(Reaction time,R)、凝血形成时间(Kinetic time,K)从长到短依次为对照组、GH组、PE组、SPE组,纤维蛋白原(Fibrinogen,FIB)、凝固角(Angle,α)、血栓最大振幅(Maximum amplitude,MA)从大到小依次为SPE组、PE组、GH组、对照组(P＜0.05).R、K与PT、TT、APTT呈正相关,与FIB呈负相关;α与FIB呈正相关,与TT、APTT呈负相关;MA与FIB呈正相关,与APTT呈负相关(P＜0.05).TEG阳性检出率高于凝血指标(P＜0.05).结论:与凝血指标相比,TEG能更准确反映HDP孕妇凝血状态     

基于中国健康人群血栓弹力图正常参考区间的建立及必要性分析

目的通过测定中国健康志愿者血栓弹力图(TEG)正常参数值范围,探讨建立符合中国人群区域特征的正常参考值范围的必要性。方法于2017年7月,在北京乐健体检中心连续募集了凝血四项检测正常的中国汉族健康成年志愿者。采集所有入选者外周静脉全血,应用TEG分析仪测定如下参数:R、K、Alpha-angle(α)、MA、LY30和CI值的正常值范围,分析其与现有TEG正常参考值范围的差异,以及与凝血四项指标包括凝血酶原时间(PT)、凝血酶时间(TT)、活化的部分凝血活酶时间(APTT)和血浆纤维蛋白原(Fib)的相关性。结果总计募集了303例(男性138名,女性165名)符合入选标准的健康志愿者,TEG各参数正常值范围分别为R:4.1~8.9min,K:1.1~3.1min,Alpha-angle(α):49.5°~72.3°,MA:54.4~71.2mm,LY30:0%~1.7%,CI:-3.6~2.6。各参数在不同年龄区间无明显差异,R、K、α-angle、MA和CI在不同性别间存在显著的统计学差异(P<0.05)。参照现有TEG正常参考值范围,健康志愿者中的7.3%将被诊断为凝血异常,检测的特异性为77.2%。对TEG和凝血四项的相关性分析发现,APTT与R值呈正相关,FIB与α-angle、MA及CI呈正相关,PT和TT与TEG参数无明显相关性。结论有必要建立符合中国人群特征的TEG正常参考值范围,TEG不可替代传统的凝血四项检测。     

TEG参数与多发伤患者凝血四项指标变化的关联性分析

目的:探究血栓弹力图(Thromboela-stogram,TEG)参数与多发伤患者凝血四项指标变化的关联性。方法:选取我院2018年8月至2020年1月间收治的95例多发伤患者作为研究对象,根据患者坎特拉创伤评分(Kampala trauma score,KTS)不同分为轻度组(14~16分,n=25)、中度组(11~13分,n=42)和重度组(5~10分,n=28)。所有患者分别采用TEG仪和血凝仪检测TEG参数(α角、K值、R值、MA值)和凝血四项指标,包括凝血酶时间(Thrombin time,TT)、凝血酶原时间(Prothombin time,PT)、纤维蛋白原(Fibrinogen,FIB)、活化部分凝血酶原时间(Activited partial thomboplastin time,APTT),探究TEG参数与凝血四项指标的关联性。结果:相关性分析显示,多发伤患者K值与TT、APTT呈正相关,与FIB呈负相关(P<0.05);R值与PT、APTT呈正相关,与FIB呈负相关(P<0.05);α角与TT、PT、APTT呈负相关,与FIB呈正相关(P<0.05);MA值与PT呈负相关,与FIB呈正相关(P<0.05)。结论:TEG参数多发伤患者凝血四项指标间存在良好线性关系,可辅助临床评估患者凝血功能状态。     

血栓弹力图联合D-二聚体对老年急性脑梗死患者继发脑出血的预测价值

目的:回顾性分析血栓弹力图(TEG)联合D-二聚体(D-Dimer)水平对老年急性脑梗死患者出院后发生脑出血的预测价值。方法:120例老年急性脑梗死患者于入院后次日清晨采集静脉血进行多通道TEG指标、D-Dimer、血小板计数(PLT)、凝血酶原时间(PT)及国际标准化比值(INR)检测。出院后随访6个月,根据有无继发脑出血,将患者分为继发出血组(出血组,n=43)和无继发出血组(对照组,n=77);统计学比较两组上述指标水平差异,Logistic回归分析急性脑梗死患者继发脑出血的危险因素;使用受试者工作特征曲线(ROC)评估TEG指标、D-Dimer及其联合检测对老年急性脑梗死继发脑出血的预测价值。结果:出血组和对照组患者PLT、PT、INR水平差异均无统计学意义(P0.05)。出血组TEG指标Angle值和MA值显著大于对照组,D-Dimer水平明显高于对照组(P0.01或P0.05)。Logistic回归分析显示,高水平Angle值、 MA值和D-Dimer是急性脑梗死继发脑出血的独立危险因素(P0.05)。Angle+D-Dimer、MA+D-Dimer联合检测的ROC下面积(AUC)大于Angle值、MA值和D-Dimer单独检测。MA+D-Dimer联合检测的AUC最大(0.723),灵敏度最高(86%),而Angle+D-Dimer联合检测的特异度最高(75.3%)。结论:TEG联合D-Dimer检测对老年急性脑梗死继发脑出血事件有较好的预测价值。     

血浆D-二聚体在膝关节置换术后扩展抗凝中的检测价值

目的:分析血浆D-二聚体(D-dimer,D-D)在膝关节置换术后扩展抗凝中的检测价值.方法:选取 2020年 6 月至 2022 年 6 月期间在我院完成膝关节置换手术的 166 例患者为研究对象,随机分为对照组(n=83)和观察组(n=83).对照组给予临床常规术后扩展抗凝治疗,观察组给予D-D引导术后扩展抗凝治疗.比较治疗后两组的凝血水平、血栓弹力图(Thromboela-stogram,TEG)监测情况、抗凝药物应用情况和不良事件.结果:观察组的活化部分凝血时间(Activated partial thromboplastin time,aPTT)、凝血酶原时间(Prothrombin time,PT)均长于对照组,空腹血糖(Fasting plasma glucose,Fbg)水平低于对照组;观察组的TEG监测纤维蛋白在血液样本中形成时间(R)、血凝块形成速率指标(K值)、30 min内血凝块幅度减少速率(30 min blood clot amplitude reduction rate,Ly30)均低于对照组,血凝块形成速率指标(α角)、TEG最大振幅(Maximum amplitude,MA)值高于对照组;观察组的凝血酶原时间国际标准化比值(International normalized ratio,INR)首次达标时间短于对照组,最佳INR控制率和INR＞2.2发生率均高于对照组;观察组的不良事件总发生率低于对照组(P＜0.05).结论:D-D引导术后扩张抗凝治疗能够改善膝关节置换术后患者的凝血情况,降低出血和血栓事件,提示监测D-D水平对于术后扩展抗凝有积极作用.     

比较4种真空采血管对常规生化检测结果的影响

目的 探讨4种真空采血管对常规生化检测结果的影响.方法 选择2021年1月至6月于佳木斯传染病院的100例健康志愿者作为研究对象,利用常规血清分离胶真空采血管以及分别添加肝素锂、乙二胺四乙酸钾和枸橼酸钠的抗凝真空采血管于清晨空腹收集志愿者血液标本.采用全自动生化分析仪对生化项目检测,检测项目包括三酰甘油、白蛋白、天冬氨酸转氨酶、丙氨酸转氨酶、肌酸激酶、葡萄糖、尿素,对检测结果进行统计学分析与比较.结果 与血清生化检测值比较,肝素锂抗凝血浆的葡萄糖(glucose,Glu)水平明显升高(P＜0.05);乙二胺四乙酸钾抗凝血浆的天冬氨酸转氨酶(aspartate transaminase,AST)水平明显降低(P＜0.05);枸橼酸钠抗凝血浆的尿素(urea anhydride,UREA)、AST、肌酸激酶(creatine kinase,CK)和白蛋白(albumin,Alb)水平均明显降低(P＜0.05).结论 含有不同抗凝剂的真空采血管对生化检测结果有一定影响,应根据检测项目不同采用不同抗凝血浆代替血清,添加肝素锂抗凝剂的真空采血管在急诊生化检测中具有一定可行性.     

壳聚糖防止输卵管阻塞介入再通术后的复发性黏连

目的 评价壳聚糖(几丁糖)在输卵管介入再通术后防止复发性黏连的疗效.方法 309例患者随机分为对照组206例和试验组103例.对照组在输卵管阻塞介入复通术中常规注射松解液(α-糜蛋白酶、地塞米松、灭滴灵、庆大霉素)做术后防止黏连.试验组在术中常规注射松解液的基础上联合应用医用几丁糖防止黏连,术后通水治疗.随访观察两组病例松解输卵管的通畅情况.结果 试验组,经子宫输卵管碘水造影阻塞190条,缺如10条;介入复通188条,再通率为98.9%;术后随访3个月通水达到无阻力180条,再黏连率4.26%(8/188).对照组输卵管造影确认堵塞390条,缺如22条,复通385条,复通率为98.7%,术后随访3个月,通水达到无阻力330条,再黏连率14.28%(55/385).两组术后3个月再黏连率有差异(P＜0.01).结论 输卵管介入再通术后应用几丁糖能有效降低输卵管术后复发性黏连.     

Effect of carryover of clot activators on coagulation tests during phlebotomy

We investigated the effect of clot activators carried over from the serum tube on major coagulation tests during phlebotomy. First, blood specimens from 30 normal subjects were mixed with small amounts of fluid containing clot activators, and their effects on various coagulation tests were determined. Only the value of fibrin monomer complex displayed a remarkable change when thrombin-containing fluid was added to the blood specimens. Subsequently, 100 paired blood specimens (taken from 75 healthy volunteers and 25 patients taking warfarin) were collected in coagulation tubes before and after the serum tube using standard phlebotomy procedures. Various coagulation tests were performed to determine the effect of contamination of thrombin-containing blood on coagulation parameters. Differences between the 2 tubes were minimal but significant for some of the coagulation tests. Therefore, we conclude that the effect of clot activators in the serum tube on coagulation tests is minimal when standard phlebotomy procedures are used.     

Comparison of the BacT/Alert pediatric blood culture system, Pedi-BacT, with conventional culture using the 20-milliliter Becton-Dickinson supplemented peptone broth tube.

The performance of the Pedi-BacT system, the BacT/Alert (Organon Teknika Corp., Durham, N.C.) pediatric blood culture bottle, was compared with that of a conventional 20-ml supplemented peptone broth tube (Becton-Dickinson Corp., Cockeysville, Md.) (BD system) in matched aerobic cultures. The tubes of the BD system were visually examined daily for 7 days and were subcultured during the first 24 h of incubation. Pedi-BacT cultures were mechanically agitated and continuously monitored for growth by the instrument. Of the 6,628 compliant pairs, 331 (5.0%) were positive in both systems, 220 (3.3%) were positive in the Pedi-BacT system only, and 170 (2.6%) were positive in the BD system only. One (0.02%) false-negative culture and 15 (0.2%) false-positive cultures occurred with the Pedi-BacT system while 20 (0.3%) false-negative cultures and 35 (0.5%) false-positive cultures occurred with the BD system. Of 288 clinically significant organisms detected in matched pairs from which a single isolate was recovered, 176 (61%) were recovered from both systems, 83 (29%) were recovered from the Pedi-BacT system only (P < 0.0001), and 29 (10%) were recovered from the BD system only. Members of the family Enterobacteriaceae (P < 0.01), miscellaneous nonfermenters (P < 0.05), and Candida spp. (P < 0.01) were isolated more frequently in the Pedi-BacT system than in the BD system. No significant difference in recovery of other organisms was found between the systems. The average time to detection for the Pedi-BacT system ranged from 11.5 h for streptococci to 29.7 h for enterococci, while that for the BD system ranged from 20.3 h for streptococci to 66.4 h for some nonfermenters. The BacT/Alert system is a reliable, labor-saving alternative to conventional blood culture methods.     

床旁超声引导下幽门定位及其在鼻空肠管置入术中的应用

目的评价床旁超声引导下幽门定位的可行性及其在危重症患者鼻空肠管置入中的临床应用价值。方法以30例需肠内营养的危重病患者为研究对象,随机分成床旁超声引导组(15例)和盲插组(15例),床旁超声引导组行床旁超声引导下鼻空肠管的置管,盲插组行床旁盲插法鼻空肠管置入。观察床旁超声引导下幽门定位情况及两组患者鼻空肠管置管时间、置管相关并发症发生和医疗费用情况。结果两组患者年龄、性别、APACHE II评分、诊断相比较,差异无显著性(P0.05)。两组到达胃部时间相比较,差异无显著性(P0.05)。床旁超声引导组通过幽门时间明显低于盲插组,差异具有显著性(P0.01)。床旁超声引导组医疗费用明显少于盲插组,差异具有显著性(P0.01)。结论床旁超声引导下鼻空肠管的置入明显优于盲插法,在置管过程中结合床旁超声可准确定位幽门位置,实时监测导管头端位置,精确了解导管头端和幽门的相对位置,对缩短耗时,减少费用,提高幽门通过率具有广泛的临床应用价值。     

人精子膜蛋白P34H表达与透明质酸酶活性的关系

目的探讨人精子膜蛋白P34H表达和顶体内透明质酸酶活性的关系。方法收集88例精液标本,其中正常生育组20例,不育男性68例。参照世界卫生组织(WHO)标准对标本进行精液常规分析,根据精液参数的不同,将68例不育标本分为正常精液参数不育组和精液参数异常不育组。Western blotting检测P34H蛋白在人精子中的表达,免疫荧光观察P34H蛋白在精子表面的阳性表达率,采用改良透明质酸钠-明胶底物膜法检测精子顶体内透明质酸酶(HYD)活性(HYD阳性反应率、HYD活性强度)。结果正常精液参数不育组和精液参数异常不育组的精子P34H/β-actin平均吸光度、精子P34H标记阳性率均明显低于正常生育组,经统计学分析差异均有显著性(P0.05);正常精液参数不育组和精液参数异常不育组的HYD活性(HYD阳性反应率、HYD活性强度)与正常生育组比较均有显著下降(P0.05)。相关性分析提示,精子P34H蛋白表达量与HYD活性(HYD阳性反应率、HYD活性强度)存在正相关性,相关系数r=0.449、0.431,P0.01;精子P34H阳性率与HYD活性(HYD阳性反应率、HYD活性强度)存在正相关性,相关系数r=0.727、0.691,P0.01。结论男性不育患者精子P34H蛋白表达减少,精子P34H阳性率降低以及HYD活性(HYD阳性反应率、HYD活性强度)减弱。     

Evaluation of hemostatic changes using thromboelastography after crystalloid or colloid fluid administration during major orthopedic surgery

The effects of Ringer lactate, 6% hydroxyethyl starch (130/0.4) or 4% succinylated gelatin solutions on perioperative coagulability were measured by thromboelastography (TEG). Seventy-five patients (ASA I-III) who were to undergo major orthopedic procedures performed under epidural anesthesia were included in the study. Patients were randomly divided into three groups of 25 each for the administration of maintenance fluids: group RL (Ringer lactate), group HES (6% hydroxyethyl starch 130/0.4), and group JEL (4% gelofusine solution). Blood samples were obtained during the perioperative period before epidural anesthesia (t1, baseline), at the end of the surgery (t2), and 24 h after the operation (t3). TEG data, reaction time (R), coagulation time (K), angle value (α), and maximum amplitude (MA) were recorded. TEG parameters changed from normal values in all patients. In group RL, R and K times decreased compared to perioperative values while the α angle and MA increased (P < 0.05). In group HES, R and K times increased, however, the α angle and MA decreased (P < 0.05). In group JEL, R time increased (P < 0.05), but K time, α angle and MA did not change significantly. In the present study, RL, 6% HES (130/0.4) and 4% JEL solutions caused changes in the coagulation system of all patients as measured by TEG, but these changes remained within normal limits.     

Parameters of thromboelastography in healthy newborns

Thromboelastography (TEG) aids in monitoring a patient's global hemostatic system by measuring the rate of clot formation, clot strength, and stability. The usefulness of TEG in pediatric settings, especially with neonates, is limited owing to a lack of neonatal reference values. In this study, neonatal TEG reference intervals were developed and results correlated with other coagulation test parameters. Samples were from women who delivered a neonate after at least 34 weeks of gestation in normal pregnancies. From the recovered placenta, cord blood from the umbilical vein or artery was collected within 30 minutes after delivery and tested. Neonatal TEG reaction time (time clot formation begins), clot firmness (shear elastic modulus strength), and platelet function analysis closure times were significantly lower than those in adult ranges (P< .001). When compared with the values for children, TEG reaction time, angle, coagulation index, clot firmness value, and clot kinetics (time from clot formation to time amplitude reaches 20 mm) were significantly different (P< .001) among neonates. TEG can be used to interpret the data for newborns by using reference values obtained in the present study.     

Standardized methods to quantify thrombogenicity of blood-contacting materials via thromboelastography

Blood coagulation is the most significant complication of vascular biomaterials. A straightforward, sensitive, and standard measure of the compatibility of these materials with whole blood (hemocompatibility) is necessary to avoid coagulation. Current techniques used quantify only individual clotting components and are poor predictors of coagulation. The thromboelastograph (TEG) provides a measure of overall clot formation from whole blood. Although TEG is very common in clinical settings, its application to biomaterials is limited partly due to difficulty in sample preparation. In this protocol, whole blood samples are incubated with (1) biomaterials (tube with clamped ends) and (2) endothelial cells cultured on biomaterial surfaces (12-well plate) under controlled shearing conditions (10 rpm on rocker, at 37°C), and then the blood is transferred to the TEG to measure clot formation. TEG clearly discriminates among the R-times (time until initial clot formation) of expanded poly(tetrafluoroethylene), poly(urethane), and Tygon tubing. Marked differences in R-time are also seen when endothelial cells are cultured on various extracellular matrix proteins and proteoglycans. Thus, R-time provides a robust metric of overall thrombogenicity of biomaterials, and these procedures provide a standardized method for TEG to facilitate direct comparison among candidate biomaterials undergoing in-vitro testing.     

Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder

Patients affected by bipolar disorder (BD) frequently report abnormalities in sleep/wake cycles. In addition, they showed abnormal oscillating melatonin secretion, a key regulator of circadian rhythms and sleep patterns. The acetylserotonin O-methyltransferase (ASMT) is a key enzyme of the melatonin biosynthesis and has recently been associated with psychiatric disorders such as autism spectrum disorders and depression. In this paper, we analysed rare and common variants of ASMT in patients with BD and unaffected control subjects and performed functional analysis of these variants by assaying the ASMT activity in their B-lymphoblastoid cell lines. We sequenced the coding and the regulatory regions of the gene in a discovery sample of 345 patients with BD and 220 controls. We performed an association study on this discovery sample using common variants located in the promoter region and showed that rs4446909 was significantly associated with BD (P= 0.01) and associated with a lower mRNA level (P< 10(-4)) and a lower enzymatic activity (P< 0.05) of ASMT. A replication study and a meta-analysis using 480 independent patients with BD and 672 controls confirmed the significant association between rs4446909 and BD (P= 0.002). These results correlate with the general lower ASMT enzymatic activity observed in patients with BD (P= 0.001) compared with controls. Finally, several deleterious ASMT mutations identified in patients were associated with low ASMT activity (P= 0.01). In this study, we determined how rare and common variations in ASMT might play a role in BD vulnerability and suggest a general role of melatonin as susceptibility factor for BD.