No To Hattatsu最新文献_第2页

A clinical course of patient with Aicardi-Goutieres syndrome due to SAMHD1 gene abnormality. SAMHD1基因异常致阿卡第-古氏综合征患者的临床病程分析。

No To Hattatsu Pub Date : 2017-01-01

Eri Watanabe, Kaori Onozawa, Takako Fujita, Yuko Tomonoh, Yukiko Ihara, Sawa Yasumoto, Ryuta Nishikomori, Toshio Heike, Shinichi Hirose

引用次数: 0

Anti-epileptics alter hypothyroidism of patients with severe motor and intellectual disabilities. 抗癫痫药可改变严重运动和智力障碍患者的甲状腺功能减退。

No To Hattatsu Pub Date : 2017-01-01

Tsunenori Hirayama, Harumi Saijo, Toshihiko Kohji, Takanori Ezoe, Sui Sone, Katsuhito Araki, Hiroshi Hamaguchi, Hisaharu Suzuki, Kiyoko KKurata

{"title":"Anti-epileptics alter hypothyroidism of patients with severe motor and intellectual disabilities.","authors":"Tsunenori Hirayama, Harumi Saijo, Toshihiko Kohji, Takanori Ezoe, Sui Sone, Katsuhito Araki, Hiroshi Hamaguchi, Hisaharu Suzuki, Kiyoko KKurata","doi":"","DOIUrl":"","url":null,"abstract":"Objective: Anti-epileptic drugs, such as carbamazepine (CBZ) or phenytoin, may induce hypothyroidism in epilepsy patients. We assessed thyroid function of chronic patients with severe motor and intellectual disabilities (SMID) in our hospital. Methods: We examined thyroid-stimulating hormone (TSH), free thyroxine (fT4), and free thyronine (fT3) in 73 patients with SMID (47 men and 26 women, average age 48.4 years, range 30-68 years) without thyroid hormone supplement therapy. We determined the relationship between the thyroid function of patients taking the anti-epileptic drugs CBZ, valproate (VPA), and phenobarbital, other medications including anti-psychotic drugs, and treatments without anti-epileptic or anti-psychotic drugs. Results: TSH levels were not significantly different between the groups taking CBZ (CBZ+med), other anti-epileptic drugs or anti-psychotic drugs (CBZ-med), and only medications without anti-epileptic or anti-psychotic drugs (Non-med). The CBZ+med group had significantly lower fT4 levels than the CBZ-med or Non-med groups. There was a negative correlation between thyroid function level and the phenobarbital groups. TSH levels of the VPA+med group were significantly higher than VPA-med and Non-med group; fT3 and fT4 levels were not significantly different. Conclusions: Our results indicate that hypothyroidism may be present in patients with SMID taking anti-epileptic drugs. This suggests it is important to regularly measure thyroid function in patients with SMID taking anti-epileptic drugs, especially CBZ.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 1","pages":"19-24"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36315749","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}

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Neuroradiologists and magnetic resonance imaging. 神经放射学家和磁共振成像。

No To Hattatsu Pub Date : 2017-01-01

Keiko Toyoda

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A case of Dravet syndrome complicated by human herpesvirus-6 infection-associated acute encephalopathy and choreoathetosis. Dravet综合征并发6型人疱疹病毒感染相关急性脑病和舞蹈病1例

No To Hattatsu Pub Date : 2017-01-01

Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha

{"title":"A case of Dravet syndrome complicated by human herpesvirus-6 infection-associated acute encephalopathy and choreoathetosis.","authors":"Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha","doi":"","DOIUrl":"","url":null,"abstract":"We report the case of a 14-month-old girl with Dravet syndrome carrying a splice-site mutation of c. 1170+1G>A on neuronal sodium channel alpha 1 subunit (SCN1A). She had a history of recurrent febrile or afebrile seizures since 4 months of age and developed acute encephalopathy due to infection with human herpesvirus-6, which presented with high grade fever, severe consciousness disturbances, and prolonged and clustered seizures. Electroencephalography showed a generalized slow activity. Intensive treatments, including mechanical ventilation, continuous thiopental infusion, and high-dose steroid therapy were initiated, and she gradually recovered. During the recovery phase, choreoathetosis-like involuntary movements appeared on the face and limbs, which were treated successfully with haloperidol. MRI findings during the acute phase were normal; however, diffuse cerebral atrophy became evident during the recovery phase. Single photon emission computed tomography (SPECT) of the brain revealed decreased cerebral perfusion over bilateral frontal and temporal lobes; however, perfusion of the occipital lobes, basal ganglia, and cerebellum remained normal. The patient showed serious developmental regression at discharge, with the loss of head control and meaningful words. Patient’s clinical course and the findings of SPECT resembled those of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), with the exception of lack of reduced diffusion of the subcortical white matter on the acute phase MRI and the prolonged and severe clinical symptoms. It has been reported that patients with Dravet syndrome are prone to complications, including various types of acute encephalopathies. Therefore, clinicians should carefully manage prolonged febrile seizures in patients with Dravet syndrome.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 1","pages":"32-6"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36315752","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

A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced. 新生儿线粒体呼吸链障碍1例，采用家用机械通气治疗。

No To Hattatsu Pub Date : 2017-01-01

Mari Sugimoto, Takao Togawa, Kaori Aiba, Norihisa Koyama, Kenji Yokochi, Kei Murayama, Akira Ohtake

引用次数: 0

Bilateral submandibular gland excision for treatment of drooling in a child with mitochondrial encephalomyopathy. 双侧颌下腺切除治疗线粒体脑肌病患儿流口水。

No To Hattatsu Pub Date : 2017-01-01

Miki Yamaura, Kitami Hayashi, Yuri Shirato, Junko Muto, Katsunori Kouchi

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Trends in the prevalence and characteristics of unilateral spastic cerebral palsy in patients born between 1988 and 2007 in Okinawa, Japan. 日本冲绳县1988 - 2007年出生的单侧痉挛性脑瘫患者的患病率和特征趋势

No To Hattatsu Pub Date : 2017-01-01

Mayumi Touyama, Jun Touyama, Yoko Kinjo

{"title":"Trends in the prevalence and characteristics of unilateral spastic cerebral palsy in patients born between 1988 and 2007 in Okinawa, Japan.","authors":"Mayumi Touyama, Jun Touyama, Yoko Kinjo","doi":"","DOIUrl":"","url":null,"abstract":"Objective: The objective of this study was to investigate the trends in the prevalence and characteristics of unilateral spastic cerebral palsy among children born between 1988 and 2007 in Okinawa, Japan. Method: We conducted a surveillance of children with cerebral palsy using the local cerebral palsy registration system. For analysis purposes, the study was divided into two periods: periodⅠ (from 1988 to 1997) and periodⅡ (from 1998 to 2007). We performed a chi-squared test and Poisson regression analysis. Result: We observed a significant trend for an increased prevalence of unilateral spastic cerebral palsy in periodⅡ (p<0.01). The number of children with unilateral spastic cerebral palsy who were born with birth weights of 1500 g or more and/or a gestational age of 32 weeks or more was increased in periodⅡ. In addition, brain magnetic resonance imaging and computed tomography scans showed that porencephaly and periventricular white matter damage were common findings in preterm children of gestational age less than 31 weeks in period II. The most frequently observed neuroimaging feature in children with a gestational age of over 32 weeks was brain infarction. Conclusion: We found a trend for an increased prevalence of unilateral spastic cerebral palsy in periodⅡ. However, the cause of this increase is as yet unknown.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 1","pages":"11-4"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36315748","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

Treatment of self-injurious behaviors in Lesch-Nyhan syndrome with S-adenosylmethionine. s -腺苷蛋氨酸治疗Lesch-Nyhan综合征自伤行为。

No To Hattatsu Pub Date : 2017-01-01

Masami Togawa, Yoshiaki Saito, Yoshihiro Maegaki, Kousaku Ohno

引用次数: 0

Three children with Lennox-Gastaut syndrome presenting long-term good seizure outcome under rufinamide treatment. 三名lenox - gastaut综合征患儿在鲁非胺治疗下表现出长期良好的癫痫发作结果。

No To Hattatsu Pub Date : 2017-01-01

Kazuki Tsukamoto, Yukitoshi Takahashi, Rumiko Takayama

引用次数: 0

Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms. 维他林治疗结节性硬化症合并婴儿痉挛的疗效观察。

No To Hattatsu Pub Date : 2016-11-01

Sato Suzuki-Muromoto,, Mitsugu Uematsu, Hiroki Sato, Yurika Numata-Uematsu, Tojo Nakayama, Atsuo Kiluchi, Tomoko Kobayashi, Naomi Hino-Fukuyo, Shigeo Kure

{"title":"Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms.","authors":"Sato Suzuki-Muromoto,, Mitsugu Uematsu, Hiroki Sato, Yurika Numata-Uematsu, Tojo Nakayama, Atsuo Kiluchi, Tomoko Kobayashi, Naomi Hino-Fukuyo, Shigeo Kure","doi":"","DOIUrl":"","url":null,"abstract":"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 Tohoku University Hospital in Japan during April 2010 and May 2015. To minimize potential adverse effects, VGB was given to the patients for limited 6 months with titration from 30 mg/kg/day as an initial dose. Results: Main seizure types were classified into spasms (n=10) or tonic seizures (n=7). Seizure reduction was positively associated with seizure type of infantile spasms, lower maximum dosage, younger age on VGB administration, and earlier VGB treatment after the diagnosis. Seizure type of infantile spasm was an independent favorable predictor and also associated with long-term seizure reduction. Major adverse events included psychiatric symptoms (n=7) and electroretinogram (ERG) abnormalities (n=2). All symptoms were recovered by reducing the dosage of VGB. Conclusion: VGB is effective and well tolerated as first-line treatment for TS children with infantile spasms. Our “low dosage and limited period” protocol is efficient for improving seizure control as well as minimizing the potential risks of VGB.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"48 6","pages":"413-9"},"PeriodicalIF":0.0,"publicationDate":"2016-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36313899","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