目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提...目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提示患儿携带CACNA1E基因c.4258(exon 30)G>A(NM_001205293)新发杂合变异,而其父母该位点均为野生型。根据ACMG(The American College of Medical Genetics and Genomics)标准与指南(2015),该变异为可能致病性变异。结论对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测,以明确诊断。展开更多
Objective. Human papillomavirus type 16 (HPV 16) has several intratyp ic varian ts, and some are associated with enhanced oncogenic potential. For risk determin ation aswell as for future vaccine development, knowledg...Objective. Human papillomavirus type 16 (HPV 16) has several intratyp ic varian ts, and some are associated with enhanced oncogenic potential. For risk determin ation aswell as for future vaccine development, knowledge about variants is impo rtant. Regarding the geographical distribution of HPV variants and the lack of d ata from Indonesia and Suriname, we studied the prevalence of HPV 16 variants in cervical cancer in these high incidence countries. Data were compared with The Netherlands, a low-risk country. Methods. DNA samples from 74 formalin-fixed p araffin-embedded HPV 16-positive cervical carcinomas from Indonesia (Java, N = 22), Suriname (N = 25), and The Netherlands (N = 27) were amplified using prime rs specific for the E6, E7, and part of the L1 regions. Products were sequenced and analyzed. Results. A specific Javanese variant, with mutations 666A in E7 an d 6826T in L1, was found in 73%of the Indonesian samples, 56%having an additio nal mutation in the E6 open reading frame (ORF; 276G), giving the predicted amin o acid change N58S. This Javanese variant was also found in three Surinamese sam ples, which reflects what could be expected from migration of Javanese people to Surinam. Other non-European variants were identified in Indonesian, Surinamese , and Dutch samples in 14%, 28%, and 19%, respectively. Conclusion. The major ity of the HPV 16-positive cervical cancers in Indonesia are caused by a specif ic intratypic variant that was rarely found before in other countries.展开更多
文摘目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提示患儿携带CACNA1E基因c.4258(exon 30)G>A(NM_001205293)新发杂合变异,而其父母该位点均为野生型。根据ACMG(The American College of Medical Genetics and Genomics)标准与指南(2015),该变异为可能致病性变异。结论对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测,以明确诊断。
文摘Objective. Human papillomavirus type 16 (HPV 16) has several intratyp ic varian ts, and some are associated with enhanced oncogenic potential. For risk determin ation aswell as for future vaccine development, knowledge about variants is impo rtant. Regarding the geographical distribution of HPV variants and the lack of d ata from Indonesia and Suriname, we studied the prevalence of HPV 16 variants in cervical cancer in these high incidence countries. Data were compared with The Netherlands, a low-risk country. Methods. DNA samples from 74 formalin-fixed p araffin-embedded HPV 16-positive cervical carcinomas from Indonesia (Java, N = 22), Suriname (N = 25), and The Netherlands (N = 27) were amplified using prime rs specific for the E6, E7, and part of the L1 regions. Products were sequenced and analyzed. Results. A specific Javanese variant, with mutations 666A in E7 an d 6826T in L1, was found in 73%of the Indonesian samples, 56%having an additio nal mutation in the E6 open reading frame (ORF; 276G), giving the predicted amin o acid change N58S. This Javanese variant was also found in three Surinamese sam ples, which reflects what could be expected from migration of Javanese people to Surinam. Other non-European variants were identified in Indonesian, Surinamese , and Dutch samples in 14%, 28%, and 19%, respectively. Conclusion. The major ity of the HPV 16-positive cervical cancers in Indonesia are caused by a specif ic intratypic variant that was rarely found before in other countries.
