目的对1例肌张力减退-共济失调和发育迟缓综合征(hypotonia,ataxia,and delayed development syndrome,HADDS)患儿进行基因变异分析,明确其遗传学病因。方法应用全外显子组测序技术对患儿进行基因检测,用Sanger测序对患儿及其父母进行...目的对1例肌张力减退-共济失调和发育迟缓综合征(hypotonia,ataxia,and delayed development syndrome,HADDS)患儿进行基因变异分析,明确其遗传学病因。方法应用全外显子组测序技术对患儿进行基因检测,用Sanger测序对患儿及其父母进行变异验证。结果患儿EBF3基因存在c.625G>A(p.Arg209Trp)杂合变异,使精氨酸(Arg)被色氨酸(Trp)取代,从而影响EBF3与DNA结合的亲和力,并改变其亚细胞定位,导致EBF3转录活性降低。结论EBF3基因c.625G>A变异可能是本例HADDS患儿的遗传学病因。本研究丰富了HADDS的临床表型谱,并扩展了EBF3基因变异谱。展开更多
Objective To evaluate efficacy and safety of botulinum toxin type B (BTX-B) in treatment of movement disorders including blepharospasm, oromandibular dystonia, hemifacial spasm, tremor, tics, and hypersecretory disord...Objective To evaluate efficacy and safety of botulinum toxin type B (BTX-B) in treatment of movement disorders including blepharospasm, oromandibular dystonia, hemifacial spasm, tremor, tics, and hypersecretory disorders such as sia-lorrhea and hyperhidrosis. Methods A retrospective study of BTX-B injections in treatment of 58 patients with various neurological disorders was performed. The mean follow-up time was 0.9 ± 0.8 years. Results of the first and last treatment of patients with at least 3 injection sessions were compared. Results The response of 58 patients to a total of 157 BTX-B treatment sessions was analyzed. Of the 157 treatment sessions, 120 sessions (76.4%) resulted in moderate or marked improvement while 17 sessions (10.8%) had no response. The clinical benefits after BTX-B treatment lasted an average of 14 weeks. Of the 41 patients with at least 3 injection ses-sions (mean 10 ± 8.6), most patients needed increased dosage upon the last session compared to the first session. Nineteen patients (32.8%) with 27 sessions (17.2%) reported adverse effects with BTX-B treatment. Conclusions Though most patients require increased dosage to maintain effective response after repeated injections, BTX-B is an effective and safe treatment drug for a variety of movement disorders, as well as drooling and hyperhidrosis.展开更多
文摘目的对1例肌张力减退-共济失调和发育迟缓综合征(hypotonia,ataxia,and delayed development syndrome,HADDS)患儿进行基因变异分析,明确其遗传学病因。方法应用全外显子组测序技术对患儿进行基因检测,用Sanger测序对患儿及其父母进行变异验证。结果患儿EBF3基因存在c.625G>A(p.Arg209Trp)杂合变异,使精氨酸(Arg)被色氨酸(Trp)取代,从而影响EBF3与DNA结合的亲和力,并改变其亚细胞定位,导致EBF3转录活性降低。结论EBF3基因c.625G>A变异可能是本例HADDS患儿的遗传学病因。本研究丰富了HADDS的临床表型谱,并扩展了EBF3基因变异谱。
文摘Objective To evaluate efficacy and safety of botulinum toxin type B (BTX-B) in treatment of movement disorders including blepharospasm, oromandibular dystonia, hemifacial spasm, tremor, tics, and hypersecretory disorders such as sia-lorrhea and hyperhidrosis. Methods A retrospective study of BTX-B injections in treatment of 58 patients with various neurological disorders was performed. The mean follow-up time was 0.9 ± 0.8 years. Results of the first and last treatment of patients with at least 3 injection sessions were compared. Results The response of 58 patients to a total of 157 BTX-B treatment sessions was analyzed. Of the 157 treatment sessions, 120 sessions (76.4%) resulted in moderate or marked improvement while 17 sessions (10.8%) had no response. The clinical benefits after BTX-B treatment lasted an average of 14 weeks. Of the 41 patients with at least 3 injection ses-sions (mean 10 ± 8.6), most patients needed increased dosage upon the last session compared to the first session. Nineteen patients (32.8%) with 27 sessions (17.2%) reported adverse effects with BTX-B treatment. Conclusions Though most patients require increased dosage to maintain effective response after repeated injections, BTX-B is an effective and safe treatment drug for a variety of movement disorders, as well as drooling and hyperhidrosis.
