目的:总结1例由ADNP基因变异所致的Helsmoortel-Van der Aa综合征(HVDAS)的临床表现及遗传学特点,并进行国内外相关文献复习。方法:对2020年8月于中山大学孙逸仙纪念医院儿科神经专科确诊的1例HVDAS患儿的临床表现、生化检查及基因检测...目的:总结1例由ADNP基因变异所致的Helsmoortel-Van der Aa综合征(HVDAS)的临床表现及遗传学特点,并进行国内外相关文献复习。方法:对2020年8月于中山大学孙逸仙纪念医院儿科神经专科确诊的1例HVDAS患儿的临床表现、生化检查及基因检测等临床资料进行回顾性分析。同时检索国内外数据库中有关ADNP基因变异所致的HVDAS患儿的文献。结果:本例患儿,男,5岁10个月,因“运动、语言发育迟缓5年余,社交障碍2年余”入院。患儿表现为智力障碍、孤独症谱系、发育迟缓、特殊面容、睾丸鞘膜积液、隐睾及睾丸微石症等。基因检测发现该患儿携带一个ADNP杂合致病突变,即ADNP(NM_015339.3)Exon3:c.56_57del TG:p.(Val19fs)基因突变,父母均未发现该基因突变。文献检索到102例患儿(包含本例患儿),平均年龄6.3岁,男女比例为3:2。相关文献报道所有患儿都有轻到重度智力障碍、严重的语言和运动发育迟缓。孤独症谱系障碍、特征性的面部外观也很常见。结论:HVDAS是一种罕见常染色体显性的神经发育障碍性疾病,临床上对于发育迟缓、孤独症谱系障碍、特殊面容的患儿,应考虑到HVDAS的可能性,应及早进行基因检测,基因检测发现ADNP基因变异可明确诊断。展开更多
为研究大骨鸡和AA+肉鸡的骨骼性状差异以及骨形态发生蛋白2(BMP2)mRNA的表达与骨骼性状的相关性,选取大骨鸡和AA+肉鸡1日龄公雏鸡进行舍饲笼养,在0~7周龄(w)随机挑选大骨鸡和AA+肉鸡各5只,在8~24 w随机挑选大骨鸡5只,限饲12 h后进行屠...为研究大骨鸡和AA+肉鸡的骨骼性状差异以及骨形态发生蛋白2(BMP2)mRNA的表达与骨骼性状的相关性,选取大骨鸡和AA+肉鸡1日龄公雏鸡进行舍饲笼养,在0~7周龄(w)随机挑选大骨鸡和AA+肉鸡各5只,在8~24 w随机挑选大骨鸡5只,限饲12 h后进行屠宰。屠宰后对其股骨、胫骨和跖骨的重量、长度和强度进行测定,并采用实时荧光定量PCR方法检测胫骨组织中BMP2 mRNA相对表达量。结果显示:0~24 w大骨鸡和0~7 w AA+肉鸡的股骨、胫骨及跖骨的重量、长度和强度均呈现相似但不同的生长趋势和回归公式。按体重相近原则,建立了0~24 w大骨鸡和0~7 w AA+肉鸡周龄配对表。大多数配对周龄中,大骨鸡各骨骼重量、长度和强度均极显著高于AA+肉鸡(P<0.01)。大骨鸡和AA+肉鸡胫骨组织BMP2基因相对表达量与骨骼性状均呈现极显著正相关(P<0.01)。4~7 w AA+肉鸡BMP2 mRNA相对表达量均极显著高于大骨鸡(P<0.01)。提示:BMP2可能是影响鸡骨骼生长的重要功能基因。展开更多
The TESS light curve(LC)of the marginal contact binary A A Cet was analyzed simultaneously with the radial velocity and the orbital period(OP)change of the system was investigated.The physical parameters of the system...The TESS light curve(LC)of the marginal contact binary A A Cet was analyzed simultaneously with the radial velocity and the orbital period(OP)change of the system was investigated.The physical parameters of the system were obtained by analyzing the LC of A A Cet with the Wilson-Devinney method,and the absolute parameters of the components were calculated using the results obtained.For the components of AA Cet,the masses and radii were calculated as M_(1)=1.39±0.04 M_⊙,M_(2)=0.48±0.02 M_⊙,and R_(1)=1.64±0.03 R_⊙,R_(2)=1.01±0.04 R_⊙,respectively.AA Cet is a marginal contact binary with a temperature difference of 1305 K between its components.A total of 14 eclipse times were obtained from the TESS data and used in the OP analysis together with those collected from the literature.It has been observed that the change in the OP of AA Cet is in the form of a decreasing parabola.Conservative mass transfer between the components has been interpreted as the reason for this change.The OP decrease amount of A A Cet was obtained as dP/dt=0.0062±0.0006 s yr^(-1).and the reason for this decrease was attributed to a 3.3(9)×10^(-8)M_⊙.mass transfer per year from the more massive component to the less massive one.The age of A A Cet has been estimated as 7 Gyr,as the age of contact systems helps us to understand their evolution.展开更多
文摘目的:总结1例由ADNP基因变异所致的Helsmoortel-Van der Aa综合征(HVDAS)的临床表现及遗传学特点,并进行国内外相关文献复习。方法:对2020年8月于中山大学孙逸仙纪念医院儿科神经专科确诊的1例HVDAS患儿的临床表现、生化检查及基因检测等临床资料进行回顾性分析。同时检索国内外数据库中有关ADNP基因变异所致的HVDAS患儿的文献。结果:本例患儿,男,5岁10个月,因“运动、语言发育迟缓5年余,社交障碍2年余”入院。患儿表现为智力障碍、孤独症谱系、发育迟缓、特殊面容、睾丸鞘膜积液、隐睾及睾丸微石症等。基因检测发现该患儿携带一个ADNP杂合致病突变,即ADNP(NM_015339.3)Exon3:c.56_57del TG:p.(Val19fs)基因突变,父母均未发现该基因突变。文献检索到102例患儿(包含本例患儿),平均年龄6.3岁,男女比例为3:2。相关文献报道所有患儿都有轻到重度智力障碍、严重的语言和运动发育迟缓。孤独症谱系障碍、特征性的面部外观也很常见。结论:HVDAS是一种罕见常染色体显性的神经发育障碍性疾病,临床上对于发育迟缓、孤独症谱系障碍、特殊面容的患儿,应考虑到HVDAS的可能性,应及早进行基因检测,基因检测发现ADNP基因变异可明确诊断。
文摘为研究大骨鸡和AA+肉鸡的骨骼性状差异以及骨形态发生蛋白2(BMP2)mRNA的表达与骨骼性状的相关性,选取大骨鸡和AA+肉鸡1日龄公雏鸡进行舍饲笼养,在0~7周龄(w)随机挑选大骨鸡和AA+肉鸡各5只,在8~24 w随机挑选大骨鸡5只,限饲12 h后进行屠宰。屠宰后对其股骨、胫骨和跖骨的重量、长度和强度进行测定,并采用实时荧光定量PCR方法检测胫骨组织中BMP2 mRNA相对表达量。结果显示:0~24 w大骨鸡和0~7 w AA+肉鸡的股骨、胫骨及跖骨的重量、长度和强度均呈现相似但不同的生长趋势和回归公式。按体重相近原则,建立了0~24 w大骨鸡和0~7 w AA+肉鸡周龄配对表。大多数配对周龄中,大骨鸡各骨骼重量、长度和强度均极显著高于AA+肉鸡(P<0.01)。大骨鸡和AA+肉鸡胫骨组织BMP2基因相对表达量与骨骼性状均呈现极显著正相关(P<0.01)。4~7 w AA+肉鸡BMP2 mRNA相对表达量均极显著高于大骨鸡(P<0.01)。提示:BMP2可能是影响鸡骨骼生长的重要功能基因。
基金Funding for the DPAC has been provided by national institutions,in particular the institutions participating in the Gaia Multilateral AgreementFunding for the TESS mission is provided by the NASA Science Mission Directorate。
文摘The TESS light curve(LC)of the marginal contact binary A A Cet was analyzed simultaneously with the radial velocity and the orbital period(OP)change of the system was investigated.The physical parameters of the system were obtained by analyzing the LC of A A Cet with the Wilson-Devinney method,and the absolute parameters of the components were calculated using the results obtained.For the components of AA Cet,the masses and radii were calculated as M_(1)=1.39±0.04 M_⊙,M_(2)=0.48±0.02 M_⊙,and R_(1)=1.64±0.03 R_⊙,R_(2)=1.01±0.04 R_⊙,respectively.AA Cet is a marginal contact binary with a temperature difference of 1305 K between its components.A total of 14 eclipse times were obtained from the TESS data and used in the OP analysis together with those collected from the literature.It has been observed that the change in the OP of AA Cet is in the form of a decreasing parabola.Conservative mass transfer between the components has been interpreted as the reason for this change.The OP decrease amount of A A Cet was obtained as dP/dt=0.0062±0.0006 s yr^(-1).and the reason for this decrease was attributed to a 3.3(9)×10^(-8)M_⊙.mass transfer per year from the more massive component to the less massive one.The age of A A Cet has been estimated as 7 Gyr,as the age of contact systems helps us to understand their evolution.
