[Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms] [0.03%]
婴儿痉挛症合并结节性硬化症使用 vigabatrin 治疗疗效分析
Sato Suzuki-Muromoto,,Mitsugu Uematsu et al.
Sato Suzuki-Muromoto et al.
Objective: To evaluate the effects and tolerability of vigabatrin (VGB) in children with tuberous sclerosis (TS) with infantile spasms or tonic seizures. Methods: We examined the impact of VGB on a series of 17 children with TS visiting Toh...
Sachiko Onoe,Tokuji Koda,Tatsuro Nobutoki et al.
Sachiko Onoe et al.
Objective: The characteristics of death in patients with severe mental and physical disabilities include, a short period from the onset of symptoms to death and sudden death in the young. However in recent years, it has not been rare for su...
[The developmental characteristics of locomotion and sleep in cyclic vomiting syndrome and the effects of drug therapy] [0.03%]
周期性呕吐综合征患儿的运动和睡眠发育特点及药物治疗的影响
Yoshiko Nomura,Nobuyuki Yotani,Akira Nagai et al.
Yoshiko Nomura et al.
Objective: To evaluate the characteristics of patients with cyclic vomiting syndrome (CVS) and the efficacy of prophylaxis therapy. Methods: We defined the patients as “CV (+) ” if they had multiple neuromuscular diseases and as “CV (−)...
[A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy] [0.03%]
[一名PRRT2基因热点突变女性患者合并多种婴儿期癫痫发作]
Hiroko Baber Matsushita,Sozo Okano,Atsushi Ishii et al.
Hiroko Baber Matsushita et al.
Benign familial infantile epilepsy (BFIE) is characterized by non-febrile focal seizures, which sometimes evolve to secondarily generalized seizures and are usually resolved in the second year. Proline-rich transmembrane protein 2 (PRRT2) i...
Case Reports
No to hattatsu = Brain and development. 2016 Sep;48(5):351-4. DOI: 2016
[Combinatory use of central venous catheter and ethanol lock for a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome] [0.03%]
中心静脉导管与乙醇封管联合应用于X-连锁皮层发育不良合并外生殖器畸形综合征患者护理中的个案报道
Hirotaka Motoi,Hiroyuki Shimizu,Yu Fujiwara et al.
Hirotaka Motoi et al.
X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome is a disorder associated with severe intellectual disability and intractable epilepsy. Intractable diarrhea is also observed frequently. At present, pathogenic background of di...
Case Reports
No to hattatsu = Brain and development. 2016 Sep;48(5):347-50. DOI: 2016
[Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene] [0.03%]
[一例存活SMN1基因一个等位基因的脊髓性肌萎缩症Ⅰ型患者病例分析]
Hiroyuki Yamada,Yoshinobu Nishida,Takako Matsumoto et al.
Hiroyuki Yamada et al.
Case Reports
No to hattatsu = Brain and development. 2016 Sep;48(5):343-6. DOI: 2016
[Measuring body composition by bioelectrical impedance analysis for nutritional management in children with respirator-dependent severe motor and intellectual disabilities due to hypoxia] [0.03%]
生物电阻抗分析测定吸氧所致重度运动和智力残疾呼吸支持儿童营养管理体成分
Koichi Mizuguchi,Masaya Kubota
Koichi Mizuguchi
Objective: Nutritional management in children with medically dependent severe motor and intellectual disabilities (SMID) is difficult. SMID children with respirator support sometimes showed obesity in spite of proper nutrition. The optimal ...
[Short-term efficacy and safety of rufinamide for Lennox-Gastaut syndrome] [0.03%]
鲁非酰胺治疗Lennox-Gastaut综合征的短期有效性和安全性研究
Rumiko Takayama,Shinobu Fukumura,Kimio Minagawa et al.
Rumiko Takayama et al.
Objective: We examined the short-term efficacy and safety of rufinamide (RFN) in patients with Lennox-Gastaut syndrome (LGS). Methods: We performed a retrospective review of clinical records of patients with LGS who started RFN treatment be...
Case Reports
No to hattatsu = Brain and development. 2016 Sep;48(5):322-6. DOI: 2016
[A new type of ATP-sensitive potassium channelopathy : Cantú syndrome] [0.03%]
[new类型的ATP敏感性钾通道病：Cantú综合征]
Yoko Hiraki,Hiroki Takanari
Yoko Hiraki
Multiple mutations in Kir6.x and SURx genes have implicated ATP-sensitive potassium (KATP) channels and, as a result, have led to diverse diseases, ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease....
[Abnormal cerebral blood flow distributions during the post-ictal phase of febrile status epilepticus in three pediatric patients measured by arterial spin labeling perfusion MRI] [0.03%]
动脉自旋标记灌注磁共振成像测量的高热癫痫持续状态发作后3例儿科患者的异常脑血流分布状况
Keiko Hirano,Tokiko Fukuda
Keiko Hirano
The ability to visualize brain perfusion is important for identifying epileptic foci. We present three pediatric cases showing asymmetrical cerebral blood flow (CBF) distributions during the post-ictal phase of febrile status epilepticus me...
Case Reports
No to hattatsu = Brain and development. 2016 May;48(3):213-7. DOI: 2016