目的探讨广东地区口面裂患者干扰素调节因子6(Interferon regulatory factor 6,IRF6)基因编码区序列的特点。方法收集广东籍口面裂患者及部分双亲血样共47例,包括1个Van der Woude综合征(van der Woude syndrome,VWS)患者核心家庭,NSCL/...目的探讨广东地区口面裂患者干扰素调节因子6(Interferon regulatory factor 6,IRF6)基因编码区序列的特点。方法收集广东籍口面裂患者及部分双亲血样共47例,包括1个Van der Woude综合征(van der Woude syndrome,VWS)患者核心家庭,NSCL/P患者40例,面横裂3例,正中裂3例;同时采取13例正常人血液样本做为对照,所有样本提取DNA后扩增IRF6基因的编码区,并进行序列测定和分析。结果共检测到3个突变位点。其中459G>T和820G>A两种突变在正常对照及未患病双亲中均被检出,NSCL/P组与正常对照组之间无差异(P>0.05)。1234C>T仅在VWS综合征患者中检出,与国际已报道的致病性突变一致。结论广东地区口面裂患者IRF6基因编码区存在三个突变,其中IRF6基因外显子9的1234C>T突变可能是广东地区VWS患者的一个致病因素。展开更多
Background:Damage to the skin and underlying tissues due to thermal burns is relevant.Despite the success of modern medicine,repairing thermal damage to the skin is a difficult task in reconstructive plastic surgery b...Background:Damage to the skin and underlying tissues due to thermal burns is relevant.Despite the success of modern medicine,repairing thermal damage to the skin is a difficult task in reconstructive plastic surgery because of the nature of the damage and the regenerative features.Characteristic post-burn changes are associated with different depths of damage when areas of deep damage are combined with more superficial areas.Methods:We described a clinical case of the staged surgical treatment of a cicatricial deformity of the buccalperiorbital-perioral region resulting from a childhood burn injury from a hot object.The 44-year-old patient complained of an aesthetic and functional deformity of the buccal-periorbital-perioral region and had previously undergone repeated nonsurgical corrections.Results:A comprehensive approach to the surgical treatment of a patient with post-burn deformities using a diplene adhesive membrane directly affected the stage of the surgical treatment and contributed to improved functional and aesthetic results.Conclusion:The positive treatment results with preserved contraction and relaxation processes of the facial muscles as well as satisfactory aesthetic results allow us to recommend the use of a biodegradable diplene film during facial reconstructive operations.展开更多
Evidence supports the involvement of oxytocin in social behavior. The oxytocin receptor gene (OXTR) has been associated with differences in social brain function and risk for autism. Motivated by recent work, we inves...Evidence supports the involvement of oxytocin in social behavior. The oxytocin receptor gene (OXTR) has been associated with differences in social brain function and risk for autism. Motivated by recent work, we investigated the effect of variation in the common functional rs2268498 T/C polymorphism in the promoter region of OXTR on neural responses to fear expressions. 46 healthy subjects were divided into genotype groups of C carriers (n = 32) and TT ho-mozygous (n = 14) and neural activity was measured during the recognition of fear and neutral expressions. Results showed that during the recognition of fear expressions, the TT genotype group exhibited increased responding in the inferior occipital gyrus, considered important for face processing, compared to carriers of the C allele (P < 0.005;cluster corrected for whole brain), an effect not found for neutral faces. These results indicate the impact of this OXTR genetic variant on individual differences in social affective neural processing.展开更多
文摘目的探讨广东地区口面裂患者干扰素调节因子6(Interferon regulatory factor 6,IRF6)基因编码区序列的特点。方法收集广东籍口面裂患者及部分双亲血样共47例,包括1个Van der Woude综合征(van der Woude syndrome,VWS)患者核心家庭,NSCL/P患者40例,面横裂3例,正中裂3例;同时采取13例正常人血液样本做为对照,所有样本提取DNA后扩增IRF6基因的编码区,并进行序列测定和分析。结果共检测到3个突变位点。其中459G>T和820G>A两种突变在正常对照及未患病双亲中均被检出,NSCL/P组与正常对照组之间无差异(P>0.05)。1234C>T仅在VWS综合征患者中检出,与国际已报道的致病性突变一致。结论广东地区口面裂患者IRF6基因编码区存在三个突变,其中IRF6基因外显子9的1234C>T突变可能是广东地区VWS患者的一个致病因素。
文摘Background:Damage to the skin and underlying tissues due to thermal burns is relevant.Despite the success of modern medicine,repairing thermal damage to the skin is a difficult task in reconstructive plastic surgery because of the nature of the damage and the regenerative features.Characteristic post-burn changes are associated with different depths of damage when areas of deep damage are combined with more superficial areas.Methods:We described a clinical case of the staged surgical treatment of a cicatricial deformity of the buccalperiorbital-perioral region resulting from a childhood burn injury from a hot object.The 44-year-old patient complained of an aesthetic and functional deformity of the buccal-periorbital-perioral region and had previously undergone repeated nonsurgical corrections.Results:A comprehensive approach to the surgical treatment of a patient with post-burn deformities using a diplene adhesive membrane directly affected the stage of the surgical treatment and contributed to improved functional and aesthetic results.Conclusion:The positive treatment results with preserved contraction and relaxation processes of the facial muscles as well as satisfactory aesthetic results allow us to recommend the use of a biodegradable diplene film during facial reconstructive operations.
文摘Evidence supports the involvement of oxytocin in social behavior. The oxytocin receptor gene (OXTR) has been associated with differences in social brain function and risk for autism. Motivated by recent work, we investigated the effect of variation in the common functional rs2268498 T/C polymorphism in the promoter region of OXTR on neural responses to fear expressions. 46 healthy subjects were divided into genotype groups of C carriers (n = 32) and TT ho-mozygous (n = 14) and neural activity was measured during the recognition of fear and neutral expressions. Results showed that during the recognition of fear expressions, the TT genotype group exhibited increased responding in the inferior occipital gyrus, considered important for face processing, compared to carriers of the C allele (P < 0.005;cluster corrected for whole brain), an effect not found for neutral faces. These results indicate the impact of this OXTR genetic variant on individual differences in social affective neural processing.