癫痫持续状态(status epilepticus,SE)是儿童急重症,年均发病率17~23/10万[1],控制不佳易转变为难治性癫痫持续状态(refractory status epilepticus,RSE),其中通过全身麻醉治疗24h后发作仍未终止的RSE被称为超级难治性癫痫持续状态(supe...癫痫持续状态(status epilepticus,SE)是儿童急重症,年均发病率17~23/10万[1],控制不佳易转变为难治性癫痫持续状态(refractory status epilepticus,RSE),其中通过全身麻醉治疗24h后发作仍未终止的RSE被称为超级难治性癫痫持续状态(super refractory status epilepticus,SRSE),SRSE是一种罕见的破坏性疾病,儿童SRSE的病死率可达13.3%[2],若未经及时救治,可导致机体内环境紊乱、多脏器功能障碍等,甚至危及生命,存活者往往存在不同程度的脑损伤。展开更多
Familial adenomatous polyposis, caused by mutations in the adenomatous polyposis coli gene located at chromosome 5q21, is an autosomal dominant syndrome characterized by polyposis of the colon and rectum and nearly 10...Familial adenomatous polyposis, caused by mutations in the adenomatous polyposis coli gene located at chromosome 5q21, is an autosomal dominant syndrome characterized by polyposis of the colon and rectum and nearly 100 percent progression to colorectal cancer. We report a case of familial adenomatous polyposis and mental retardation caused by a chromosomal deletion at 5q15-q22. Chromosomal analysis is considered part of the evaluation of children with mental retardation and developmental delay. The resulting karyotypes from high-resolution chromosomal analysis can help characterize large deletions, some of which involve known tumor suppressor genes. Because familial adenomatous polyposis may arise from de novo chromosomal deletions involving the adenomatous polyposis coli gene locus, individuals with chromosomal deletions involving 5q21 should be considered at-risk for familial adenomatous polyposis and offered standard screening with flexible sigmoidoscopy by 10 to 12 years of age.展开更多
文摘癫痫持续状态(status epilepticus,SE)是儿童急重症,年均发病率17~23/10万[1],控制不佳易转变为难治性癫痫持续状态(refractory status epilepticus,RSE),其中通过全身麻醉治疗24h后发作仍未终止的RSE被称为超级难治性癫痫持续状态(super refractory status epilepticus,SRSE),SRSE是一种罕见的破坏性疾病,儿童SRSE的病死率可达13.3%[2],若未经及时救治,可导致机体内环境紊乱、多脏器功能障碍等,甚至危及生命,存活者往往存在不同程度的脑损伤。
文摘Familial adenomatous polyposis, caused by mutations in the adenomatous polyposis coli gene located at chromosome 5q21, is an autosomal dominant syndrome characterized by polyposis of the colon and rectum and nearly 100 percent progression to colorectal cancer. We report a case of familial adenomatous polyposis and mental retardation caused by a chromosomal deletion at 5q15-q22. Chromosomal analysis is considered part of the evaluation of children with mental retardation and developmental delay. The resulting karyotypes from high-resolution chromosomal analysis can help characterize large deletions, some of which involve known tumor suppressor genes. Because familial adenomatous polyposis may arise from de novo chromosomal deletions involving the adenomatous polyposis coli gene locus, individuals with chromosomal deletions involving 5q21 should be considered at-risk for familial adenomatous polyposis and offered standard screening with flexible sigmoidoscopy by 10 to 12 years of age.
