目的研究言语康复训练改变唇腭裂(cleft lip and palate,CLP)患者静息态脑网络的时间动态功能连接的脑机制。资料与方法经纳入和排除标准筛选后选取未接受言语康复训练及接受言语康复训练且合格的CLP患者各22例,对所有患者进行汉语语音...目的研究言语康复训练改变唇腭裂(cleft lip and palate,CLP)患者静息态脑网络的时间动态功能连接的脑机制。资料与方法经纳入和排除标准筛选后选取未接受言语康复训练及接受言语康复训练且合格的CLP患者各22例,对所有患者进行汉语语音清晰度测试字表评估和功能磁共振成像(functional magnetic resonance imaging,fMRI)检查。使用静息态f MRI,通过独立成分分析进行动态功能网络连接,比较两组受试者脑网络及动态时间特性的组间差异。结果我们选取了21个符合要求的独立成分,并确定了动态功能连接模式的两种状态。状态1中,与言语康复训练之前的CLP患者相比,言语康复之后的CLP患者的视觉网络和执行控制网络的功能连接减弱(p<0.05),小脑网络和视觉网络、听觉网络、感觉运动网络的功能连接均增强(p<0.05);状态2中,言语康复训练之后的CLP患者的额顶网络与视觉网络、默认模式网络、感觉运动网络的功能连接均加强(p<0.05),视觉网络与执行控制网络、感觉运动网络的功能连接均减弱(p<0.05)。两组受试者在动态功能连接分析中的时间特性参数均无统计学差异,但言语康复训练之前的CLP患者在状态2中的平均驻留时间较短,同时该组的状态转换次数更多。结论CLP患者动态脑网络之间功能连接的恢复和时间特性的改变为言语康复训练的脑机制提供了客观解释,并为进一步评判患者言语康复情况提供了参考。展开更多
Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was...Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase （BHMT） gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms （SNPs） present in the BHMT gene （rs651852, rs3797546, and rs3733890） were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT＋CT genotype （P=0.020, OR=2.10, 95% CI=1.11‐3.95）. Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.展开更多
文摘目的研究言语康复训练改变唇腭裂(cleft lip and palate,CLP)患者静息态脑网络的时间动态功能连接的脑机制。资料与方法经纳入和排除标准筛选后选取未接受言语康复训练及接受言语康复训练且合格的CLP患者各22例,对所有患者进行汉语语音清晰度测试字表评估和功能磁共振成像(functional magnetic resonance imaging,fMRI)检查。使用静息态f MRI,通过独立成分分析进行动态功能网络连接,比较两组受试者脑网络及动态时间特性的组间差异。结果我们选取了21个符合要求的独立成分,并确定了动态功能连接模式的两种状态。状态1中,与言语康复训练之前的CLP患者相比,言语康复之后的CLP患者的视觉网络和执行控制网络的功能连接减弱(p<0.05),小脑网络和视觉网络、听觉网络、感觉运动网络的功能连接均增强(p<0.05);状态2中,言语康复训练之后的CLP患者的额顶网络与视觉网络、默认模式网络、感觉运动网络的功能连接均加强(p<0.05),视觉网络与执行控制网络、感觉运动网络的功能连接均减弱(p<0.05)。两组受试者在动态功能连接分析中的时间特性参数均无统计学差异,但言语康复训练之前的CLP患者在状态2中的平均驻留时间较短,同时该组的状态转换次数更多。结论CLP患者动态脑网络之间功能连接的恢复和时间特性的改变为言语康复训练的脑机制提供了客观解释,并为进一步评判患者言语康复情况提供了参考。
基金supported by the National Natural Science Foundation of China (grant number 307009907)Beijing Natural Science Foundation (grant number 7082038)Beijing Foundation for Excellent Elite (grant number 2010D003034000013)
文摘Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase （BHMT） gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms （SNPs） present in the BHMT gene （rs651852, rs3797546, and rs3733890） were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT＋CT genotype （P=0.020, OR=2.10, 95% CI=1.11‐3.95）. Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.
