No To Hattatsu最新文献_第6页

The developmental characteristics of locomotion and sleep in cyclic vomiting syndrome and the effects of drug therapy. 周期性呕吐综合征患者运动与睡眠的发育特点及药物治疗效果。

No To Hattatsu Pub Date : 2016-07-01

Yoshiko Nomura, Nobuyuki Yotani, Akira Nagai, Masaya Kubota

引用次数: 0

[We fully enjoy our career and life]. (我们充分享受我们的事业和生活)。

No To Hattatsu Pub Date : 2016-05-01

Tokiko Fukuda, Harumi Yoshinaga, Sahoko Miyama, Kaoru Eto, Eri Takeshita

引用次数: 0

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN]. [自噬基因WDR45的新生突变导致SENDA/BPAN]。

No To Hattatsu Pub Date : 2016-05-01

Kazuhiro Muramatsu

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[Study of the efficacy of low-dose synthetic ACTH therapy without tapering to treat West syndrome]. [低剂量无减量合成促肾上腺皮质激素治疗西氏综合征的疗效研究]。

No To Hattatsu Pub Date : 2016-05-01

Kazuo Kodama, Taku Omata, Hidee Arai, Yuzo Tanabe

{"title":"[Study of the efficacy of low-dose synthetic ACTH therapy without tapering to treat West syndrome].","authors":"Kazuo Kodama, Taku Omata, Hidee Arai, Yuzo Tanabe","doi":"","DOIUrl":"","url":null,"abstract":"Objective: We evaluated the effectiveness of synthetic adrenocorticotropic hormone (ACTH) therapy without tapering in treating patients with West syndrome.Methods: Forty-four patients with cryptogenic (n = 7) or symptomatic (n = 37) West syndrome were treated with synthetic ACTH therapy between 2003 and 2012. The synthetic ACTH dosage was 0.0125 mg/kg/day administered daily for 2 weeks and then stopped without a tapering period. The initial effectiveness, long-term seizure outcome, and adverse effects were examined.Results: During synthetic ACTH therapy, epileptic spasms disappeared in 37 of 44 patients (84.1%) and hypsarrhythmia on electroencephalography disappeared in 42 of 44 patients (95.5%). The average number of synthetic ACTH injections needed to achieve spasm control in these 37 patients was 5.8. Long-term seizure outcomes were assessed in 31 patients followed up for longer than half a year after synthetic ACTH therapy. Nine (29.0%) of these patients experienced recurrence of epileptic spasms, with a mean interval to recurrence of 2.4 months. Overall, 12 patients (38.7%) experienced various types of seizures other than spasms with a mean interval to recurrence of 8.0 months. Although adverse effects such as hypertension, infection, and mild brain shrinkage were noted in 13 patients (29.5%), no severe adverse effects were observed.Conclusions: These results are comparable to those of other reports on the initial effectiveness and long-term seizure control following synthetic ACTH therapy, and suggest that administration without tapering is reasonable to treat patients with West syndrome.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"48 3","pages":"195-8"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34680668","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

[Design and data processing in a clinical study that child neurologists should master]. 【儿童神经科医师应掌握的临床研究设计与数据处理】。

No To Hattatsu Pub Date : 2016-05-01

Takashi Kawamura

引用次数: 0

[Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy]. [维奇综合征、IV 型粘脂症和难治性癫痫中的自噬作用]。

No To Hattatsu Pub Date : 2016-05-01

Masaharu Hayashi

引用次数: 0

[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation]. [母子顶孔增大，胎儿静脉持续，ALX4突变]。

No To Hattatsu Pub Date : 2016-05-01

Motoaki Morita, Eiji Nanba, Kaori Adachi, Kousaku Ohno

{"title":"[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].","authors":"Motoaki Morita, Eiji Nanba, Kaori Adachi, Kousaku Ohno","doi":"","DOIUrl":"","url":null,"abstract":"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 inherited as an autosomal dominant trait with relatively high, but not full, penetrance. Mutation in either MSX2 or ALX4 genes is associated with enlarged parietal foramina. Case 1 is a boy who was noticed to have a large anterior fontanelle, large posterior fontanelle, and widely opened sagittal suture at 2 months. During development, the anterior fontanelle and sagittal suture closed at 3 years and the posterior fontanelle subsequently divided into two foramina with ossification of the midline bridge by 4 years. The foramina were about 2.5 x 2.5 cm in diameter at 8 years. Case 2 is the 34-year-old mother of Case 1. She showed similar bone defects in her cranium, again about 2.5 x 2.5 cm in diameter. Neither patient showed any neurological symptoms. Genetic analysis revealed a mutation in the ALX4 gene in both patients, and magnetic resonance imaging showed a persistent falcine sinus and a hypoplastic straight sinus. Further evaluation revealed that the mother of Case 2 also had a mutation in the ALX4 gene, but no enlarged parietal foramina. Although high penetrance of this condition has been reported, this family suggests incomplete penetrance of this disorder.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"48 3","pages":"205-8"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34680670","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

[What we should do NOW that has passed five years since 2011.3.11]. 【2011年3月11日至今已经过去了5年，我们现在应该做什么】。

No To Hattatsu Pub Date : 2016-05-01

Naomi Fukuyo

引用次数: 0

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. [一名患有β -螺旋桨蛋白相关神经退行性变的妇女，通过WDR45突变鉴定，在儿童期表现为rett样综合征]。

No To Hattatsu Pub Date : 2016-05-01

Naoya Morisada, Syuichi Tsuneishi, Kazuhiro Taguchi, Ryuzaburo Yagi, Masahiro Nishiyama, Daisaku Toyoshima, Taku Nakagawa, Yasuhiro Takeshima, Satoshi Takada, Kazumoto Iijima

{"title":"[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].","authors":"Naoya Morisada, Syuichi Tsuneishi, Kazuhiro Taguchi, Ryuzaburo Yagi, Masahiro Nishiyama, Daisaku Toyoshima, Taku Nakagawa, Yasuhiro Takeshima, Satoshi Takada, Kazumoto Iijima","doi":"","DOIUrl":"","url":null,"abstract":"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. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement. She had a febrile convulsion at 6 months of age but there was no history of epilepsy. The delay in language development was more severe than the delay in motor development; she was able to dress herself, walk unaided, and follow simple instructions until adolescence. After the age of 20, her movement ability rapidly declined. By the time she was 42 years old, she was bedridden and unable to communicate. Brain magnetic resonance imaging (MRI) at 21 years revealed no abnormality except non-specific cerebral atrophy. However, MRI at 39 years revealed abnormalities in the globus pallidus and substantia nigra, with neurodegeneration and iron accumulation in the brain. Genetic analysis for WDR45 revealed that she had a splice site mutation (NM_007075.3: c.830 + 2 T > C) which was previously reported, and a diagnosis of BPAN was confirmed. For specific therapies to be developed for BPAN in the future, it is necessary to establish early diagnosis, including genetic analysis.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"48 3","pages":"209-12"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34614557","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

[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]. [动脉自旋标记灌注MRI对3例小儿热性癫痫持续状态发作后期脑血流异常分布的观察]。

No To Hattatsu Pub Date : 2016-05-01

Keiko Hirano, Tokiko Fukuda

{"title":"[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].","authors":"Keiko Hirano, Tokiko Fukuda","doi":"","DOIUrl":"","url":null,"abstract":"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 measured by arterial spin labeling (ASL) perfusion MRI. During the acute phase, regional CBF measurements in the areas considered including epileptic foci were higher than in the corresponding area of the contralateral hemisphere, though the exact quantitative value varied between cases. We could not identify the correct epileptogenic foci, because those ASL images were taken after the prolonged and extraordinary activation of neurons in the affected area. During the recovery phase, the differences reduced and the average regional CBF measurement was 54.6 ± 6.1 ml/100 g per minute, which was a little less than the number of previous ASL studies. ASL perfusion MRI imaging provides a method for evaluating regional CBF by using magnetically labeled arterial blood water as an endogenous tracer. With this technique, we can repeatedly evaluate both the brain structure and the level of perfusion at the same time. ASL is noninvasive and easily accessible, and therefore it could become a routine tool for assessment of perfusion in daily practice of pediatric neurology.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"48 3","pages":"213-7"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34614558","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