[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood] [0.03%]
WDR45基因突变所致β胡 propeller蛋白相关神经退行性疾病呈Rett样综合征发病1例
Naoya Morisada,Syuichi Tsuneishi,Kazuhiro Taguchi et al.
Naoya Morisada et al.
Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. He...
Case Reports
No to hattatsu = Brain and development. 2016 May;48(3):209-12. DOI: 2016
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation] [0.03%]
[前脑无裂畸形样特征、顶骨扩大切迹和胎儿型静脉持久存在的母子 pair 和 ALX4 突变]
Motoaki Morita,Eiji Nanba,Kaori Adachi et al.
Motoaki Morita et al.
Enlarged parietal foramina (EPF) are rare congenital skull defects. These round or oval defects are situated on each parietal bone approximately 1 cm from the midline. Most patients with EPF have a positive family history. The condition is ...
Case Reports
No to hattatsu = Brain and development. 2016 May;48(3):205-8. DOI: 2016
[Anti-MOG + neuromyelitis optica spectrum disorders treated with plasmapheresis] [0.03%]
抗MOG抗体阳性神经谱系疾病患者接受血浆置换治疗疗效观察
Azusa Oshiro,Sadao Nakamura,Kunihito Tamashiro et al.
Azusa Oshiro et al.
A 10-year-old boy developed bilateral optic neuritis and myelitis after a suspected viral infection and appendicitis. Magnetic resonance imaging (MRI) showed multiple lesions in both optic nerves, the optic chiasm, and the spinal cord. Seve...
Case Reports
No to hattatsu = Brain and development. 2016 May;48(3):199-203. DOI: 2016
[Study of the efficacy of low-dose synthetic ACTH therapy without tapering to treat West syndrome] [0.03%]
低剂量人工ACTH非减量治疗婴儿西综合征疗效的探索性研究
Kazuo Kodama,Taku Omata,Hidee Arai et al.
Kazuo Kodama et al.
Objective: We evaluated the effectiveness of synthetic adrenocorticotropic hormone (ACTH) therapy without tapering in treating patients with West syndrome. ...
[Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy] [0.03%]
[Vici综合征、黏脂贮积病IV型及难治性癫痫中的自噬]
Masaharu Hayashi
Masaharu Hayashi
Kazuhiro Muramatsu
Kazuhiro Muramatsu
[Introductory remarks] [0.03%]
[开场白]
Shin Nabatame,Noboru Mizushima
Shin Nabatame
[Design and data processing in a clinical study that child neurologists should master] [0.03%]
[临床研究设计与统计初探--儿科神经病医生须知]
Takashi Kawamura
Takashi Kawamura
I will introduce the key points to dispatch good clinical evidence. In the randomized trial, a clinical question should be transformed into P (patients), I (intervention), C (comparison), and O (outcome). You should decide parallel or cross...
Tokiko Fukuda,Harumi Yoshinaga,Sahoko Miyama et al.
Tokiko Fukuda et al.