JNNP:肌萎缩侧索硬化症胸椎型变异的分型

2021-10-22 MedSci原创 MedSci原创

胸椎管变异型肌萎缩侧索硬化症(T-ALS)是一种罕见的亚型,仅影响3%的肌萎缩侧索硬化症(ALS)患者。为了更好地理解这种变异,旨在描述T-ALS的典型特征,包括临床表现、分布模式和预后。

胸椎管变异型肌萎缩侧索硬化症(T-ALS)是一种罕见的亚型,仅影响3%的肌萎缩侧索硬化症(ALS)患者。为了更好地理解这种变异,本文旨在描述T-ALS的典型特征,包括临床表现、分布模式和预后。

对59例T-ALS患者进行了回顾性图表分析,这些患者来自于2002年至2018年间乌尔姆大学医院(德国乌尔姆)神经内科的3549例ALS患者的临床数据库,包括2020年的死亡记录查询。纳入标准为根据经修订的El Escorial标准诊断为明确的ALS,胸肌无力为ALS的首发症状。对照组包括517名非胸椎型肌萎缩侧索硬化症(NT-ALS)患者,来自2010年至2018年间ALS登记处Swabia2的流行病学数据库,不包括原发性侧索硬化症以及家族/遗传形式本文发表在《神经病学,神经外科学和精神病学杂志》上(

比较了两个队列的临床参数,包括性别、发病年龄、诊断延迟、生存期(从症状开始到死亡的时间)、体重、使用无创通气(NIV)和有创通气(IV)以及传播模式。发病定义为首次轻瘫的发生。对于临床参数的描述,酌情使用绝对和相对频率或中位数和IQR。分类变量比较采用皮尔逊χ2检验。对于连续参数,采用Mann-Whitney U检验。生存率采用Kaplan-Meier法和对数秩检验进行分析。所有统计检验均在α=0.05的双侧显著性水平下进行。

2002年至2018年间,在乌尔姆大学医院(德国乌尔姆)神经内科治疗的3549例ALS患者中,59例(1.7%)患有T-ALS。与NT-ALS相比,T-ALS中的男性占比大(T-ALS:79.7%vs-NT-ALS:55.3%,p<0.001),与NT-ALS中的1.2:1.0相比,T-ALS中的男性:女性比例为3.9:1.0。T-ALS患者的中位发病年龄为65.4岁(IQR 58.7-71.2),T-ALS患者的中位发病年龄为67.8岁(IQR 58.2-74.4)(p=0.08)。在女性患者中,T-ALS的发病年龄比NT-ALS的年轻(T-ALS:60.5岁(IQR 48.8-65.3),而NT-ALS:69.1岁(IQR 59.2-74.7),p=0.004)。

临床结果统计

根据临床表现,我们确定了两个不同的T-ALS亚组,其特征为呼吸肌(n=37)或椎旁肌(n=22)变异。与NT-ALS相比,T-ALS的中位诊断延迟更长(11个月(IQR 6-18)与6个月(IQR 3-11),p<0.001)。T-ALS患者的中位生存期为34个月(95%) CI 28.5至29.5),而25个月(95% NT-ALS(在线补充图1)中的CI 23.0至27.0,p=0.01)。在T-ALS队列中,观察到呼吸性发作和椎旁发作患者之间没有差异(呼吸性发作:中位生存期30个月,95% CI 17.0至42.1;椎旁病变:35.0,95% CI 28.8至41.2;p=0.60)。在T-ALS患者中,60.0%的患者在发病后12个月内开始NIV或IV治疗,而NT-ALS患者仅为7.2%(p<0.001)。

在3个月内,两组之间的体重减轻没有差异。在大多数T-ALS患者(n=32,54.2%)中,第二个受累区域是颈部。腰椎区其次为25.4%(n=15),延髓区为20.3%(n=12)。结果显示T-ALS在女性中很少见,与NT-ALS患者相比,T-ALS女性患者的发病年龄更早。考虑到胸椎发病的罕见性,预计T-ALS患者的诊断延迟会显著延长。
总之,与NT-ALS相比,T-ALS的主要特征是男性占优势、女性发病年龄较早、体重明显减轻、早期依赖机械通气,但生存期更长。

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    2022-08-29 chendoc252
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    2021-10-23 yyj065
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  7. [GetPortalCommentsPageByObjectIdResponse(id=1983198, encodeId=8c9819831989f, content=<a href='/topic/show?id=a7a7e359478' target=_blank style='color:#2F92EE;'>#硬化症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73594, encryptionId=a7a7e359478, topicName=硬化症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a691420, createdName=30397604, createdTime=Fri Jan 28 06:43:15 CST 2022, time=2022-01-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1696004, encodeId=f7851696004cf, content=<a href='/topic/show?id=03b98809697' target=_blank style='color:#2F92EE;'>#萎缩#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=88096, encryptionId=03b98809697, topicName=萎缩)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=53fc29868494, createdName=chendoc252, createdTime=Mon Aug 29 12:43:15 CST 2022, time=2022-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342914, encodeId=1a151342914b2, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1489990, encodeId=366b148999032, content=<a href='/topic/show?id=2d258411ea9' target=_blank style='color:#2F92EE;'>#胸椎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84117, encryptionId=2d258411ea9, topicName=胸椎)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6d688662973, createdName=yyj065, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1503181, encodeId=d7c41503181ec, content=<a href='/topic/show?id=a71481058ca' target=_blank style='color:#2F92EE;'>#肌萎缩#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=81058, encryptionId=a71481058ca, topicName=肌萎缩)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=eebd9606217, createdName=neizongke, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1523477, encodeId=00eb15234e773, content=<a href='/topic/show?id=e7f5810596c' target=_blank style='color:#2F92EE;'>#肌萎缩侧索硬化#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=81059, encryptionId=e7f5810596c, topicName=肌萎缩侧索硬化)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3c4711523273, createdName=liuyong2984, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1062922, encodeId=33531062922ed, content=谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c01c5209406, createdName=14757fdfm46暂无昵称, createdTime=Fri Oct 22 13:44:22 CST 2021, time=2021-10-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1062906, encodeId=83701062906f7, content=好文章,谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTJlfgys76DEiaNtbYo2re3ibjrUPTRibEXRyFwAB4aAGiave842S0FQDf0wAoaH226NiaSoPPDzhndsf1g/132, createdBy=88b489038, createdName=yangchou, createdTime=Fri Oct 22 12:41:16 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
    2021-10-22 14757fdfm46暂无昵称

    谢谢分享

    0

  8. [GetPortalCommentsPageByObjectIdResponse(id=1983198, encodeId=8c9819831989f, content=<a href='/topic/show?id=a7a7e359478' target=_blank style='color:#2F92EE;'>#硬化症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73594, encryptionId=a7a7e359478, topicName=硬化症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a691420, createdName=30397604, createdTime=Fri Jan 28 06:43:15 CST 2022, time=2022-01-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1696004, encodeId=f7851696004cf, content=<a href='/topic/show?id=03b98809697' target=_blank style='color:#2F92EE;'>#萎缩#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=88096, encryptionId=03b98809697, topicName=萎缩)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=53fc29868494, createdName=chendoc252, createdTime=Mon Aug 29 12:43:15 CST 2022, time=2022-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342914, encodeId=1a151342914b2, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1489990, encodeId=366b148999032, content=<a href='/topic/show?id=2d258411ea9' target=_blank style='color:#2F92EE;'>#胸椎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=84117, encryptionId=2d258411ea9, topicName=胸椎)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6d688662973, createdName=yyj065, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1503181, encodeId=d7c41503181ec, content=<a href='/topic/show?id=a71481058ca' target=_blank style='color:#2F92EE;'>#肌萎缩#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=81058, encryptionId=a71481058ca, topicName=肌萎缩)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=eebd9606217, createdName=neizongke, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1523477, encodeId=00eb15234e773, content=<a href='/topic/show?id=e7f5810596c' target=_blank style='color:#2F92EE;'>#肌萎缩侧索硬化#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=81059, encryptionId=e7f5810596c, topicName=肌萎缩侧索硬化)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3c4711523273, createdName=liuyong2984, createdTime=Sat Oct 23 13:43:15 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1062922, encodeId=33531062922ed, content=谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c01c5209406, createdName=14757fdfm46暂无昵称, createdTime=Fri Oct 22 13:44:22 CST 2021, time=2021-10-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1062906, encodeId=83701062906f7, content=好文章,谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTJlfgys76DEiaNtbYo2re3ibjrUPTRibEXRyFwAB4aAGiave842S0FQDf0wAoaH226NiaSoPPDzhndsf1g/132, createdBy=88b489038, createdName=yangchou, createdTime=Fri Oct 22 12:41:16 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
    2021-10-22 yangchou

    好文章,谢谢分享。

    0

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研究表明雷帕霉素治疗具有良好的耐受性,并且为ALS患者提供了令人放心的安全性结果。

Brain:遗传性和散发性肌萎缩侧索硬化症队列中存在不同的神经炎症特征

根据ALS-FTSD队列之间和队列内部存在的不同分子特征定制治疗方法十分重要。