目的分析中国西藏地区一Waardenburg综合征家系的临床特征及致病基因,总结Waardenburg综合征患者人工耳蜗植入术后听觉言语康复效果。方法采集该家系成员的病史、体格检查、听力及影像学等临床资料,利用已知耳聋基因目标区域高通量测序...目的分析中国西藏地区一Waardenburg综合征家系的临床特征及致病基因,总结Waardenburg综合征患者人工耳蜗植入术后听觉言语康复效果。方法采集该家系成员的病史、体格检查、听力及影像学等临床资料,利用已知耳聋基因目标区域高通量测序和Sanger测序验证,进行耳聋致病基因分析与鉴定。通过电话随访调查患者人工耳蜗术后听觉言语康复效果,使用量表包括听觉行为分级(CAP)、言语可懂度分级(SIR)、有意义听觉整合量表(MAIS)、有意义言语使用量表(meaningful use of speech scale,MUSS)。结合文献回顾,分析Waardenburg综合征患者人工耳蜗术后康复效果。结果该患儿表现为重度感音神经性耳聋,伴虹膜异色,皮肤异常,诊断为II型Waardenburg综合征。高通量测序及Sanger测序验证结果显示患儿携带SOX10基因c.409Adel杂合突变,患儿父母均未携带此突变,考虑为基因突变导致,该突变此前尚未报道。患儿人工耳蜗术后9年听觉言语康复效果良好,CAP、SIR分级分别为6级、4级,MAIS、MUSS评分分别为37分、32分。结论本研究发现1例西藏地区II型Waardenburg综合征患者新发SOX10基因突变位点c.409Adel,丰富了中国藏族人群致聋基因突变谱。Waardenburg综合征患者人工耳蜗术后远期听觉言语康复效果满意。展开更多
Although reef-building corals are threatened by a number of anthropogenic impacts, certain scleractinian-dinoflagellate (genus Symbiodinium) endosymbioses have proven markedly resilient to environmental change. For in...Although reef-building corals are threatened by a number of anthropogenic impacts, certain scleractinian-dinoflagellate (genus Symbiodinium) endosymbioses have proven markedly resilient to environmental change. For instance, corals from upwelling habitats of Southern Taiwan withstand both short- and long-term increases in temperature, potentially due to their routine exposure to highly variable temperature regimes in situ. To gain a greater understanding of the proteomic basis for such acclimatization to unstable environmental conditions, specimens of the Indo-Pacific reef-building coral Seriatopora hystrix Dana 1846 were sampled during a period of stable temperature conditions from 1) a site characterized by frequent upwelling events in Southern Taiwan and 2) a nearby, non-upwelling control site in the Taiwan Strait. Two-dimensional gel electrophoresis followed by sequencing of differentially concentrated proteins with mass spectrometry unveiled significantly more proteins involved in the cellular stress response in coral hosts of the upwelling site. Although such stress protein signatures could be indicative of sub-lethal levels of cellular stress, especially given the relatively higher sediment loads characteristic of the upwelling site, these proteins may, in contrast, have been constitutively maintained at high levels in preparation for large fluctuations in temperature and other abiotic parameters (e.g., nutrient levels) brought upon by upwelling events.展开更多
文摘目的分析中国西藏地区一Waardenburg综合征家系的临床特征及致病基因,总结Waardenburg综合征患者人工耳蜗植入术后听觉言语康复效果。方法采集该家系成员的病史、体格检查、听力及影像学等临床资料,利用已知耳聋基因目标区域高通量测序和Sanger测序验证,进行耳聋致病基因分析与鉴定。通过电话随访调查患者人工耳蜗术后听觉言语康复效果,使用量表包括听觉行为分级(CAP)、言语可懂度分级(SIR)、有意义听觉整合量表(MAIS)、有意义言语使用量表(meaningful use of speech scale,MUSS)。结合文献回顾,分析Waardenburg综合征患者人工耳蜗术后康复效果。结果该患儿表现为重度感音神经性耳聋,伴虹膜异色,皮肤异常,诊断为II型Waardenburg综合征。高通量测序及Sanger测序验证结果显示患儿携带SOX10基因c.409Adel杂合突变,患儿父母均未携带此突变,考虑为基因突变导致,该突变此前尚未报道。患儿人工耳蜗术后9年听觉言语康复效果良好,CAP、SIR分级分别为6级、4级,MAIS、MUSS评分分别为37分、32分。结论本研究发现1例西藏地区II型Waardenburg综合征患者新发SOX10基因突变位点c.409Adel,丰富了中国藏族人群致聋基因突变谱。Waardenburg综合征患者人工耳蜗术后远期听觉言语康复效果满意。
文摘Although reef-building corals are threatened by a number of anthropogenic impacts, certain scleractinian-dinoflagellate (genus Symbiodinium) endosymbioses have proven markedly resilient to environmental change. For instance, corals from upwelling habitats of Southern Taiwan withstand both short- and long-term increases in temperature, potentially due to their routine exposure to highly variable temperature regimes in situ. To gain a greater understanding of the proteomic basis for such acclimatization to unstable environmental conditions, specimens of the Indo-Pacific reef-building coral Seriatopora hystrix Dana 1846 were sampled during a period of stable temperature conditions from 1) a site characterized by frequent upwelling events in Southern Taiwan and 2) a nearby, non-upwelling control site in the Taiwan Strait. Two-dimensional gel electrophoresis followed by sequencing of differentially concentrated proteins with mass spectrometry unveiled significantly more proteins involved in the cellular stress response in coral hosts of the upwelling site. Although such stress protein signatures could be indicative of sub-lethal levels of cellular stress, especially given the relatively higher sediment loads characteristic of the upwelling site, these proteins may, in contrast, have been constitutively maintained at high levels in preparation for large fluctuations in temperature and other abiotic parameters (e.g., nutrient levels) brought upon by upwelling events.
