TODAY今日发布ATVBEarlyRecent,Dec26,今日发布04篇RECOMMEND推荐阅读01凝血酶原ArgTrp突变导致PC（ProteinC）通路激活缺陷，构成静脉血栓形成的一个新的遗传危险因素ATVBresearch-articleXiWu,JingDai,etc.1小时前Objective:DefectivePC(proteinC)pathwaypredisposespatientstovenousthromboembolism(VTE)andismostly,butnotexclusively,attributedtohereditaryPCorPS(proteinS)deficienciesandactivatedPCresistancecausedbyfactorVLeidenmutation.有缺陷的PC（proteinC）通路易使患者发生静脉血栓栓塞（VTE），主要但不完全是由于遗传性PC或PS（proteinS）缺陷和激活的PC抵抗引起的。ApproachandResults:InapatientwithacutemesentericvenousthrombosisandpositivefamilyhistoryofVTEassociatedwiththeimpairedPCpathwayfunctiondeterminedbythrombingenerationtest,weidentifiedanovelheterozygousprothrombinmutationp.ArgTrp.TwomorepatientswithpositivefamilyhistoryofVTEcarryingthesamemutationwereidentifiedinacohortofanotherunrelatedpatients,makinganoverallprevalenceof0.8%.Familyinvestigationrevealed11individualsinthe3pedigreesharboringtheheterozygousprothrombinp.ArgTrpmutation,and8ofthem(72%)hadexperiencedepisodesofVTE.Functionalstudiesindicatedthemutationmoderatelydecreasedprocoagulantactivityofprothrombinandhadmildimpactontheinactivationofthrombinbyitsinhibitorantithrombin.However,theaminoacidresiduesubstitutionsignificantly
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