Brain and Development最新文献_第2页

Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause MECP2重复综合征复发性肺炎3例，可能病因为误吸

Brain and Development Pub Date : 2022-03-01 DOI: 10.1016/j.braindev.2022.03.005

Ryo Sugitate, K. Muramatsu, Tomomi Ogata, M. Goto, Shinniti Hayashi, Noriko Sawaura, Masako Kawada-Nagashima, A. Matsui, T. Yamagata

引用次数: 1

Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents 土耳其儿童和青少年不宁腿综合征和生长痛的重叠特征

Brain and Development Pub Date : 2022-02-01 DOI: 10.1016/j.braindev.2022.02.002

D. Türkdoğan, R. Mahmudov

引用次数: 1

A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome 局灶性皮质发育不良IIa型伴病理怀疑双侧拉斯穆森综合征1例

Brain and Development Pub Date : 2022-02-01 DOI: 10.1016/j.braindev.2022.02.003

Masataka Fukuoka, I. Kuki, Y. Hattori, Hitomi Tsuji, A. Horino, M. Nukui, Takeshi Inoue, S. Okazaki, H. Kawawaki, N. Kunihiro, T. Uda, Yukitoshi Takahashi

引用次数: 4

Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy sptan1相关发育性和癫痫性脑病患者的神经化学评价

Brain and Development Pub Date : 2022-02-01 DOI: 10.1016/j.braindev.2022.02.001

Yuka Sakata, Kentaro Sano, S. Aoki, H. Saitsu, J. Takanashi

引用次数: 3

Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing 基于高分辨率熔融实时PCR的SMN1拷贝数评估:快速和高可靠的测试

Brain and Development Pub Date : 2021-09-07 DOI: 10.21203/rs.3.rs-863046/v1

Ying Xu, Tingting Song, Xiaozhou Wang, Jiao Zheng, Y. Li, F. Guo, Yuanfeng Li, Zijian Guo, Yaling Dou, Yu Wang, Ye Zhao, Hong Yang

{"title":"Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing","authors":"Ying Xu, Tingting Song, Xiaozhou Wang, Jiao Zheng, Y. Li, F. Guo, Yuanfeng Li, Zijian Guo, Yaling Dou, Yu Wang, Ye Zhao, Hong Yang","doi":"10.21203/rs.3.rs-863046/v1","DOIUrl":"https://doi.org/10.21203/rs.3.rs-863046/v1","url":null,"abstract":"BACKGROUND\u0000Spinal muscular atrophy (SMA) is a neuromuscular disease mainly caused by the absence of both copies of the survival motor neuron 1 (SMN1) gene. Multiple regions recommended population-wide SMA screening to quantify the copy number of SMN1. SMN1 diagnostic assays for the simplified procedure, high sensitivity, and throughput continue to be needed.\u0000\u0000\u0000METHODS\u0000Real-time PCR with high-resolution melting for the quantifying of the SMN1 gene exon 7 copies and exon 8 copies were established and confirmed by multiplex ligation-dependent probe amplification (MLPA). The diagnosis of 2563 individuals, including SMA patients, suspected cases, and the general population, was tested by real-time PCR. The results were compared with the gold standard test MLPA.\u0000\u0000\u0000RESULTS\u0000In this study, the homozygous and heterozygous deletions were detected by real-time PCR with a high-resolution melting method with an incidence of 10.18% and 2.26%, respectively. In addition, the R-value distribution (P > 0.05) among 8 replicates and the coefficient of variation (CV < 0.003) suggested that the real-time PCR screening test had high reproducibility. High concordance was obtained between real-time PCR with high-resolution melting and MLPA.\u0000\u0000\u0000CONCLUSIONS\u0000The real-time PCR based on high-resolution melting provides a sensitive and high-throughput approach to large-scale SMA carrier screening with low cost and labor.","PeriodicalId":9193,"journal":{"name":"Brain and Development","volume":"1 1","pages":"462-468"},"PeriodicalIF":0.0,"publicationDate":"2021-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86566823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders 扩展pura相关神经发育障碍的临床表型和遗传谱

Brain and Development Pub Date : 2021-02-08 DOI: 10.21203/RS.3.RS-163113/V1

S. Choi, Heun-Sik Lee, T. Park, Soojin Park, Y. Ko, S. Kim, B. Lim, Ki Joong Kim, J. Chae

{"title":"Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders","authors":"S. Choi, Heun-Sik Lee, T. Park, Soojin Park, Y. Ko, S. Kim, B. Lim, Ki Joong Kim, J. Chae","doi":"10.21203/RS.3.RS-163113/V1","DOIUrl":"https://doi.org/10.21203/RS.3.RS-163113/V1","url":null,"abstract":"BACKGROUND\u0000PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. PURA-NDDs have recently been identified and underestimated in neurodevelopmental cohorts, but their diagnosis is still challenging.\u0000\u0000\u0000METHODS\u0000We retrospectively reviewed the clinical characteristics, genetic spectrum, and diagnostic journey of patients with PURA-NDDs.\u0000\u0000\u0000RESULTS\u0000We report 2 patients with 5q31.3 microdeletion and 5 with PURA pathogenic variants. They demonstrated hypotonia (7/7, 100%), feeding difficulties (4/5, 80%), and respiratory problems (4/7, 57%) in the neonatal period. All of them had severe GDD/ID and could not achieve independent walking and verbal responses. Distinctive facial features of open-tented upper vermilion, long philtrum, and anteverted nares and poor visual fixation and tracking with or without nystagmus were most commonly found (5/7, 71.4%). There were no significant differences in clinical phenotypes between 5q31.3 microdeletion syndrome and PURA syndrome. PURA-NDDs need to be considered as a differential diagnosis in individuals who show severe hypotonia, including feeding difficulties since birth and severe developmental retardation with distinctive facial and ophthalmological features.\u0000\u0000\u0000CONCLUSIONS\u0000Our data expands the phenotypic and genetic spectrum of PURA-NDD. Next-generation sequencing methods based on the detailed phenotypic evaluation would shorten the diagnostic delay and would help this rare disorder become a recognizable cause of neurodevelopmental delay.","PeriodicalId":9193,"journal":{"name":"Brain and Development","volume":"34 1","pages":"912-918"},"PeriodicalIF":0.0,"publicationDate":"2021-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89171212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Acknowledgments to Anonymous Reviewers in 2019 感谢2019年的匿名审稿人

Brain and Development Pub Date : 2020-03-31 DOI: 10.1016/s0387-7604(20)30070-x

引用次数: 0

Announcements and reports 公告及报告

Brain and Development Pub Date : 2020-03-31 DOI: 10.1016/s0387-7604(20)30054-1

引用次数: 0

The effects of antihistamine on the duration of the febrile seizure: A single center study with a systematic review and meta-analysis 抗组胺药对热性惊厥持续时间的影响:一项单中心研究，系统回顾和荟萃分析

Brain and Development Pub Date : 2020-02-01 DOI: 10.1016/j.braindev.2019.10.004

Ryo Sugitate, Y. Okubo, H. Nariai, A. Matsui

引用次数: 4

Change of centrotemporal spikes from onset to remission in self-limited epilepsy with centrotemporal spikes (SLECTS) 自限性癫痫伴中央颞叶尖峰发作至缓解期中央颞叶尖峰变化

Brain and Development Pub Date : 2019-12-05 DOI: 10.1016/j.braindev.2019.11.005

J. Han, S. Choi, Yoon Gi Chung, Y. Shim, W. Kim, S. Kim, Hunmin Kim, B. Lim, H. Hwang, J. Chae, Jieun Choi, Ki Joong Kim

引用次数: 4