先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)是梗阻性无精子症的常见原因之一,睾丸生精功能一般正常,除了常见的囊性纤维化穿膜传导调节蛋白(cystic fibrosis transmembrane conductance regulator,CFTR...先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)是梗阻性无精子症的常见原因之一,睾丸生精功能一般正常,除了常见的囊性纤维化穿膜传导调节蛋白(cystic fibrosis transmembrane conductance regulator,CFTR)基因突变外,黏附G蛋白耦联受体G2(adhesion G protein-coupled receptor G2,ADGRG2)基因突变以及拷贝数变异也被认为是CBAVD的发病机制。本文报告1例CBAVD伴生精功能障碍的病例,睾丸组织病理学提示唯支持细胞综合征。全外显子组测序未发现该患者CFTR、ADGRG2以及无精子症相关基因存在致病变异,拷贝数变异分析也未发现有意义的拷贝数变异。该病例的确切遗传学病因尚未可知。CBAVD与生精功能障碍并存的临床现象,提示无精子症遗传病因的复杂性。展开更多
Six guanidinium salts of arylarsenic po1ytungstates have been prepared by the 'degradation method' using sodium metatungstate as a starting material instead of sodium tungstate, They belong to three types of c...Six guanidinium salts of arylarsenic po1ytungstates have been prepared by the 'degradation method' using sodium metatungstate as a starting material instead of sodium tungstate, They belong to three types of complexes: [(RAs)_2W_6O_(25)H]^(5-) where R=C_6H_5(1),o-NO_2C_6H_4(2),m-NO_2C_6H_4(3), p-NO_2C_6H_4(4),[(RAs)_2W_6O_(25)]^(4-) where R=p-NH_2C_6H_4(5), and[(RAs)_2W_6O(25)]^(6-)where R=3,4,-C_6H_3 (NO_2)(OH)(6). Complex 1 is a known compound, prepared by the acidification building up method, i.e. conversion of sodium tungstate to polytungstate. Complex 1 and 6 prepared by the degradation method, i.e. from sodium metatungstate to lower polytungstate, are briefly reported in our previous re- port of this investigation. Complexes 2-5 are new compounds. Molecular structures of complexes 5 and 6 have been determined by means of single-crystal X-ray diffraction studies. It is especially em- phasized that the degradation method starting with metatungstate has the advantage in the simplification of reaction products. thus leading to their higher yields.展开更多
文摘先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)是梗阻性无精子症的常见原因之一,睾丸生精功能一般正常,除了常见的囊性纤维化穿膜传导调节蛋白(cystic fibrosis transmembrane conductance regulator,CFTR)基因突变外,黏附G蛋白耦联受体G2(adhesion G protein-coupled receptor G2,ADGRG2)基因突变以及拷贝数变异也被认为是CBAVD的发病机制。本文报告1例CBAVD伴生精功能障碍的病例,睾丸组织病理学提示唯支持细胞综合征。全外显子组测序未发现该患者CFTR、ADGRG2以及无精子症相关基因存在致病变异,拷贝数变异分析也未发现有意义的拷贝数变异。该病例的确切遗传学病因尚未可知。CBAVD与生精功能障碍并存的临床现象,提示无精子症遗传病因的复杂性。
文摘Six guanidinium salts of arylarsenic po1ytungstates have been prepared by the 'degradation method' using sodium metatungstate as a starting material instead of sodium tungstate, They belong to three types of complexes: [(RAs)_2W_6O_(25)H]^(5-) where R=C_6H_5(1),o-NO_2C_6H_4(2),m-NO_2C_6H_4(3), p-NO_2C_6H_4(4),[(RAs)_2W_6O_(25)]^(4-) where R=p-NH_2C_6H_4(5), and[(RAs)_2W_6O(25)]^(6-)where R=3,4,-C_6H_3 (NO_2)(OH)(6). Complex 1 is a known compound, prepared by the acidification building up method, i.e. conversion of sodium tungstate to polytungstate. Complex 1 and 6 prepared by the degradation method, i.e. from sodium metatungstate to lower polytungstate, are briefly reported in our previous re- port of this investigation. Complexes 2-5 are new compounds. Molecular structures of complexes 5 and 6 have been determined by means of single-crystal X-ray diffraction studies. It is especially em- phasized that the degradation method starting with metatungstate has the advantage in the simplification of reaction products. thus leading to their higher yields.
