[Successful treatment with topiramate in a case of idiopathic intracranial hypertension refractory to acetazolamide] [0.03%]
一例富马酸醋唑胺治疗无效的原发性颅内高压症患者改用托吡酯治疗成功案例报告
Marie Noda,Yuri Sonoda,Megumi Takemoto et al.
Marie Noda et al.
A 6-year-old girl experienced nausea and vomiting for 3 weeks and double vision for 1 week prior to her first visit to our hospital. She had bilateral ophthalmoplegia from sixth cranial nerve palsy and papilledema. Her brain MRI showed norm...
Case Reports
No to hattatsu = Brain and development. 2017 May;49(3):207-10. DOI: 2017
[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report] [0.03%]
婴儿期GM₂四氢苯并氮卓症的临床特点及基因分析：1例报道
Hiroya Ono,Chitose Sugiura,Aya Narita et al.
Hiroya Ono et al.
We describe the case of a 15-year-old male with early juvenile type GM2 gangliosidosis. He first manifested with progressive clumsiness in his extremities at the age of 1.5 years, followed by motor regression. Intellectual disability became...
Case Reports
No to hattatsu = Brain and development. 2017 May;49(3):203-6. DOI: 2017
[Non-invasive positive pressure ventilation during the management of severe spinal muscular atrophy type I] [0.03%]
[I型严重脊髓性肌萎缩症治疗中的无创正压通气]
Kenji Inoue,Nobusuke Kimura,Yoshihisa Higuchi et al.
Kenji Inoue et al.
Patients with spinal muscular atrophy type Ⅰ (SMA Ⅰ) with the onset before the age of 3 months are considered as severe form of SMA Ⅰ (severe SMA Ⅰ) and have poor prognosis. Here, we report the efficacy of non-invasive positive pressure...
Case Reports
No to hattatsu = Brain and development. 2017 Mar;49(2):141-4. DOI: 2017
[Ictal arterial spin labeling MRI findings in two cases of acute confusional migraine] [0.03%]
[急性混乱型偏头痛的发作性动脉自旋标记磁共振成像阳性发现(2例报告)]
Yoshiaki Watanabe,Tasuku Kitajima,Nanako Nishiguchi et al.
Yoshiaki Watanabe et al.
Arterial spin labeling (ASL) is a magnetic resonance imaging (MRI) technique that enables visualizing of cerebral blood flow without need of a contrast medium. In recent years, there have been reports from outside Japan related to ASL use i...
Case Reports
No to hattatsu = Brain and development. 2017 Mar;49(2):136-40. DOI: 2017
[A case of West syndrome with a deletion at chromosome 2q24.3-q31.3] [0.03%]
[染色体2q24.3-q31.3缺失的婴儿肌阵挛性脑病一例]
Yuka Hattori,Hisashi Kawawaki,Asako Horino et al.
Yuka Hattori et al.
A male infant suffered from partial seizures at four months of age, and developed West syndrome at eight months of age. ACTH therapy was effective for the West syndrome. However, partial seizures recurred at 14 months of age, which could no...
Case Reports
No to hattatsu = Brain and development. 2017 Mar;49(2):131-5. DOI: 2017
[Irreversible cerebral ischemia caused by febrile status epilepticus in Sturge-Weber syndrome type III] [0.03%]
[Sturge-Weber综合征III型所致高热癫痫持续状态引起的大脑不可逆缺血损害]
Yuri Sakaguchi,Tomohide Goto,Sahoko Miyama
Yuri Sakaguchi
We report a 9-year-old girl with Sturge-Weber syndrome (SWS) type III, whose motor function deteriorated after an episode of febrile status epilepticus. The patient had leptomeningeal angiomas in the left temporal, occipital, and parietal l...
Case Reports
No to hattatsu = Brain and development. 2017 Mar;49(2):126-9. DOI: 2017
[The characteristics of social skills, school maladjustment and stress responses in junior high school students with autism spectrum disorder] [0.03%]
初中孤独症谱系障碍学生的社交技能、学校适应与应激反应特点及相关关系研究
Junko Okajima,Noriko Kato,Yuko Yoshitomi et al.
Junko Okajima et al.
Objective: The purpose of this study was to test difference between the social skills of adolescents with autism spectrum disorder (ASD) and their typically developing students." ...
[The efficacy of intravenous alendronate for osteoporosis in patients with severe motor intellectual disabilities] [0.03%]
静脉注射阿仑膦酸钠治疗重度智体残疾人的骨质疏松症的疗效分析
Yoshimi Kaga,Sayaka Ishii,Itaru Kuroda et al.
Yoshimi Kaga et al.
Objective: Bone fractures in patients with severe motor and intellectual disabilities (SMIDs) have become an important problem to be solved. These fractures may result from disuse osteoporosis. Bisphosphonate administrati...
[The pitfalls of using diagnosis and treatment guidelines for patients with juvenile myasthenia gravis] [0.03%]
[青少年重症肌无力诊疗指南使用的陷阱]
Keiko Ishigaki
Keiko Ishigaki
Even though evidence-based clinical guidelines are useful for the management of common diseases, there are several problems in applying such guidelines to patients with rare diseases. First, there are few references providing high-level evi...
Eri Takeshita
Eri Takeshita