目前国内常用的神经发育学检查工具适用年龄较为宽泛,可用于新生儿时期神经发育筛查的工具仍存在不足。对Hammersmith新生儿神经学检查(HNNE)的国内外临床与科研应用现状进行综述。遵循PRISMA指南,系统性检索Web of Science、PubMed、Sc...目前国内常用的神经发育学检查工具适用年龄较为宽泛,可用于新生儿时期神经发育筛查的工具仍存在不足。对Hammersmith新生儿神经学检查(HNNE)的国内外临床与科研应用现状进行综述。遵循PRISMA指南,系统性检索Web of Science、PubMed、Scopus、Embase、Cochrane Library、中国知网、万方数据库中有关Hammersmith新生儿神经学检查的中、英文文献,检索时限自建库至2024年。HNNE是一种方便、省时、经济的神经学检查工具,可用于预测新生儿神经发育结局,与神经影像学表现出一定的相关性,同时在指导新生儿联合用药,筛查与神经发育相关的新生儿疾病方面也表现出一定的临床意义。HNNE可以作为NICU和产科床旁的常规检查工具使用,但需要针对中国婴儿展开常模研究,确立适用于中国婴儿的最优分数。展开更多
Background This study investigated the efficacy and safety of nusinersen,an antisense oligonucleotide,in patients with spinal muscular atrophy(SMA)types II(OMIM:253,550)or III(OMIM:253,400),including those with severe...Background This study investigated the efficacy and safety of nusinersen,an antisense oligonucleotide,in patients with spinal muscular atrophy(SMA)types II(OMIM:253,550)or III(OMIM:253,400),including those with severe scoliosis or requiring respiratory support via mechanical ventilation.Methods Data from 40 patients with genetically confirmed SMA who were treated with nusinersen at our institute from March 2019 to April 2022 were retrospectively analyzed.Of these,30 patients with an age of onset<3 years and not on permanent ventilation were selected.Clinical and genetic characteristics were investigated,and motor function was evaluated based on the Hammersmith Functional Motor Scale-Expanded(HFMSE)score.Results The mean age of symptom onset was 1.2 years.Most patients were diagnosed with SMA type II(27/30,90%).Nusinersen was administered via computed tomography-guided or direct intrathecal injection in 87%(26/30)and 13%(4/30)of the patients,respectively.At the 6-,14-,22-,and 26-month follow-ups,72%,71%,88%,and 86%of patients showed motor improvement,respectively,with mean changes in HFMSE scores of 2.10,2.88,4.21,and 5.29,respectively.Multivariable analysis showed that the use of noninvasive ventilation was associated with poorer outcomes of motor function.Conclusions Patients with SMA type II or III who received nusinersen treatment showed significant improvement in motor function.A longer treatment duration led to a higher number of patients with improved motor function.No significant side effects of nusinersen were observed.Patients with SMA,even those with severe scoliosis or on respiratory support,can be safely treated using nusinersen.展开更多
文摘目前国内常用的神经发育学检查工具适用年龄较为宽泛,可用于新生儿时期神经发育筛查的工具仍存在不足。对Hammersmith新生儿神经学检查(HNNE)的国内外临床与科研应用现状进行综述。遵循PRISMA指南,系统性检索Web of Science、PubMed、Scopus、Embase、Cochrane Library、中国知网、万方数据库中有关Hammersmith新生儿神经学检查的中、英文文献,检索时限自建库至2024年。HNNE是一种方便、省时、经济的神经学检查工具,可用于预测新生儿神经发育结局,与神经影像学表现出一定的相关性,同时在指导新生儿联合用药,筛查与神经发育相关的新生儿疾病方面也表现出一定的临床意义。HNNE可以作为NICU和产科床旁的常规检查工具使用,但需要针对中国婴儿展开常模研究,确立适用于中国婴儿的最优分数。
文摘Background This study investigated the efficacy and safety of nusinersen,an antisense oligonucleotide,in patients with spinal muscular atrophy(SMA)types II(OMIM:253,550)or III(OMIM:253,400),including those with severe scoliosis or requiring respiratory support via mechanical ventilation.Methods Data from 40 patients with genetically confirmed SMA who were treated with nusinersen at our institute from March 2019 to April 2022 were retrospectively analyzed.Of these,30 patients with an age of onset<3 years and not on permanent ventilation were selected.Clinical and genetic characteristics were investigated,and motor function was evaluated based on the Hammersmith Functional Motor Scale-Expanded(HFMSE)score.Results The mean age of symptom onset was 1.2 years.Most patients were diagnosed with SMA type II(27/30,90%).Nusinersen was administered via computed tomography-guided or direct intrathecal injection in 87%(26/30)and 13%(4/30)of the patients,respectively.At the 6-,14-,22-,and 26-month follow-ups,72%,71%,88%,and 86%of patients showed motor improvement,respectively,with mean changes in HFMSE scores of 2.10,2.88,4.21,and 5.29,respectively.Multivariable analysis showed that the use of noninvasive ventilation was associated with poorer outcomes of motor function.Conclusions Patients with SMA type II or III who received nusinersen treatment showed significant improvement in motor function.A longer treatment duration led to a higher number of patients with improved motor function.No significant side effects of nusinersen were observed.Patients with SMA,even those with severe scoliosis or on respiratory support,can be safely treated using nusinersen.
