Ann Oto Rhinol Laryn:雷弗素姆氏病兄弟姐妹耳蜗移植研究

2017-07-15 AlexYang MedSci原创

是否雷弗素姆氏病综合征重度听力损失的起源是由耳蜗损伤引起或者蜗后退化引起仍旧不清楚。最近,有研究人员为了解释这个问题,在案例报道中调查了在耳蜗移植前后听力表现情况。同样,引起雷弗素姆氏病综合征新突变位点的鉴定也将有助于产生治疗新的疗法。一个家庭的4名个体参与了遗传测试。其中两名兄弟姐妹(56岁和61岁)承受着重度听力和视力障碍,并且接受了双边耳蜗移植。另外,研究人员还进行了遗传分析、听力测定效果和

是否雷弗素姆氏病综合征重度听力损失的起源是由耳蜗损伤引起或者蜗后退化引起仍旧不清楚。最近,有研究人员为了解释这个问题,在案例报道中调查了在耳蜗移植前后听力表现情况。同样,引起雷弗素姆氏病综合征新突变位点的鉴定也将有助于产生治疗新的疗法。一个家庭的4名个体参与了遗传测试。其中两名兄弟姐妹(56岁和61岁)承受着重度听力和视力障碍,并且接受了双边耳蜗移植。另外,研究人员还进行了遗传分析、听力测定效果和临床检查。

研究发现了一个引起雷弗素姆氏病综合征新的突变位点,该突变位点位于PHYH基因中,并且没有发现手术前畸变产物耳声发射。弗莱堡言语测试的术后言语感知均为双音节词语,而对病人1和病人2分别有85%的单音节词语和65%的单音节词语。在移植后5年,言语感知对双音节词语保持稳定,而对单音节词语的感知能力下降。

最后,研究人员指出,该研究发现了一个新的引起雷弗素姆氏病综合征的突变。在重度听力损失中的耳蜗移植改善了言语感知,并且应该给患有雷弗素姆氏病综合征病人推荐,尤其是那些听力损失伴随着重度视力损失的病人。另外,在长期跟踪调查中言语感知的减少也许表明了蜗后的退化。

原始出处:

Stahr K, Kuechler A, Gencik M et al. Cochlear Implantation in Siblings With Refsum's Disease. Ann Otol Rhinol Laryngol. 6 July 2017.

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  1. [GetPortalCommentsPageByObjectIdResponse(id=1378915, encodeId=492313e8915ff, content=<a href='/topic/show?id=db548051642' target=_blank style='color:#2F92EE;'>#耳蜗移植#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80516, encryptionId=db548051642, topicName=耳蜗移植)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ba58436, createdName=马龙, createdTime=Mon Jul 17 13:07:00 CST 2017, time=2017-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=223182, encodeId=18562231825a, content=谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5K46ZAxBHmHsph32KkfsWGwmickB6RsCUD8KruE4vo5CpvXfdu16GBpp4ibh6WJu1o9iatP1LWKDmvmic/0, createdBy=be6f1940165, createdName=1e0ece0dm09(暂无匿称), createdTime=Mon Jul 17 10:40:50 CST 2017, time=2017-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=222689, encodeId=01aa2226896c, content=学习了很多的事情,, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NcXNhUvfhzd2dD8SUAwqrufRiaKMGaaBScoAzEicJJibuu3wCIWWQxoLgS2UOBx1vsPe3faZtAiatc0pTWlS6868zZH/0, createdBy=0a231960988, createdName=胖红, createdTime=Sat Jul 15 22:23:34 CST 2017, time=2017-07-15, status=1, ipAttribution=)]
  2. [GetPortalCommentsPageByObjectIdResponse(id=1378915, encodeId=492313e8915ff, content=<a href='/topic/show?id=db548051642' target=_blank style='color:#2F92EE;'>#耳蜗移植#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80516, encryptionId=db548051642, topicName=耳蜗移植)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ba58436, createdName=马龙, createdTime=Mon Jul 17 13:07:00 CST 2017, time=2017-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=223182, encodeId=18562231825a, content=谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5K46ZAxBHmHsph32KkfsWGwmickB6RsCUD8KruE4vo5CpvXfdu16GBpp4ibh6WJu1o9iatP1LWKDmvmic/0, createdBy=be6f1940165, createdName=1e0ece0dm09(暂无匿称), createdTime=Mon Jul 17 10:40:50 CST 2017, time=2017-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=222689, encodeId=01aa2226896c, content=学习了很多的事情,, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NcXNhUvfhzd2dD8SUAwqrufRiaKMGaaBScoAzEicJJibuu3wCIWWQxoLgS2UOBx1vsPe3faZtAiatc0pTWlS6868zZH/0, createdBy=0a231960988, createdName=胖红, createdTime=Sat Jul 15 22:23:34 CST 2017, time=2017-07-15, status=1, ipAttribution=)]
    2017-07-17 1e0ece0dm09(暂无匿称)

    谢谢分享

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1378915, encodeId=492313e8915ff, content=<a href='/topic/show?id=db548051642' target=_blank style='color:#2F92EE;'>#耳蜗移植#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80516, encryptionId=db548051642, topicName=耳蜗移植)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ba58436, createdName=马龙, createdTime=Mon Jul 17 13:07:00 CST 2017, time=2017-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=223182, encodeId=18562231825a, content=谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5K46ZAxBHmHsph32KkfsWGwmickB6RsCUD8KruE4vo5CpvXfdu16GBpp4ibh6WJu1o9iatP1LWKDmvmic/0, createdBy=be6f1940165, createdName=1e0ece0dm09(暂无匿称), createdTime=Mon Jul 17 10:40:50 CST 2017, time=2017-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=222689, encodeId=01aa2226896c, content=学习了很多的事情,, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NcXNhUvfhzd2dD8SUAwqrufRiaKMGaaBScoAzEicJJibuu3wCIWWQxoLgS2UOBx1vsPe3faZtAiatc0pTWlS6868zZH/0, createdBy=0a231960988, createdName=胖红, createdTime=Sat Jul 15 22:23:34 CST 2017, time=2017-07-15, status=1, ipAttribution=)]
    2017-07-15 胖红

    学习了很多的事情,

    0