No To Hattatsu最新文献_第3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}

引用次数: 0

Neonatal herpes simplex encephalitis with bilateral temporal mega cystic lesion. 新生儿单纯性脑炎伴双侧颞叶巨大囊性病变。

No To Hattatsu Pub Date : 2017-01-01

Yuri Nagao, Kazue Kimura, Kei Hachimori, Hiroshi Oba, Kyoko Hoshino

引用次数: 0

Angular acceleration and angular jerk of elbow extension-flexion movement as parameters for discriminating a sequential transform of spontaneous movements in early infants. 角加速度和角抽搐肘关节伸屈运动的参数，以区分自发运动的顺序变换在早期婴儿。

No To Hattatsu Pub Date : 2017-01-01

Mamoru Igarashi, Hideki Oyama, Shin-ichi Izumi

{"title":"Angular acceleration and angular jerk of elbow extension-flexion movement as parameters for discriminating a sequential transform of spontaneous movements in early infants.","authors":"Mamoru Igarashi, Hideki Oyama, Shin-ichi Izumi","doi":"","DOIUrl":"","url":null,"abstract":"Objective: We assessed the root mean square (RMS) of angular acceleration and the RMS of an angular jerk as expressions of the transformation of spontaneous movements in early infancy. Methods: During 36-56 weeks post-menstrual age (PMA), 15 premature infants (6 male, 9 female; 36 weeks PMA>) were measured every 4 weeks. A three-dimensional motion analyzer (Fastrak system; Polhemus Inc.) was used to measure spontaneous movements of the upper right limb in the supine infants. Upper limb position data were used to calculate the RMS of angular acceleration and the RMS of angular jerk at the elbow. The calculated data were classified into three terms: 36th and 40th week PMA (termⅠ), the 44th and 48th week PMA (termⅡ), and the 52nd and 56th week PMA (termⅢ). The typical value was the mean value for each term. Results: The RMS of angular acceleration in termⅡ was significantly less than that of termⅠ (p<0.05). The RMS values of angular jerk in termⅡ and termⅢ were significantly less than that of termⅠ (p<0.05). Conclusion: The RMS of angular acceleration and the RMS of the angular jerk are useful for expressing changes in the strength of spontaneous movements of elbow extension-flexion movements.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 1","pages":"15-8"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36315750","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

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

引用次数: 0

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

Importance of the multisystem follow-up in patients with tuberous sclerosis complex. 结节性硬化症患者多系统随访的重要性。

No To Hattatsu Pub Date : 2017-01-01

Harumi Yoshinaga, Makio Oka, Tomoyuki Akiyama, Fumika Endoh, Mari Akiyama, Yumiko Hayashi, Takashi Shibata, Yoshiyuki Hanaoka, Katsuhiro Kobayashi

{"title":"Importance of the multisystem follow-up in patients with tuberous sclerosis complex.","authors":"Harumi Yoshinaga, Makio Oka, Tomoyuki Akiyama, Fumika Endoh, Mari Akiyama, Yumiko Hayashi, Takashi Shibata, Yoshiyuki Hanaoka, Katsuhiro Kobayashi","doi":"","DOIUrl":"","url":null,"abstract":"Objective: Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by the formation of hamartoma in multiple organ systems of the body. However, without a well-established cooperative system involving related departments, some organ lesions might be overlooked until symptoms appear or even until the disorder progresses. Therefore, the purpose of this study is to investigate the current status of follow-ups in the TSC patients in the Department of Child Neurology at Okayama University Medical Hospital. Methods: We performed a retrospective chart review of 38 patients with TSC who visited our hospital at least twice between January 2005 and December 2014. Patients were between 3 years and 48 years of age at their latest visit. We divided the patients into a child group and an adult group, and investigated the patients’ follow-up data while focusing on the various multiorgan systems. Results: The follow-ups were well conducted in the child group in terms of every organ. In the adult group, neuroimaging tests were unsatisfactorily performed. The kidney has not been examined in seven patients more than five years even though these patients all had kidney lesions. The lung was not been examined in 7 out of 14 female patients over 18 years of age who are most at risk for lymphangioleiomyomatosis (LAM). In 12 out of 18 child patients, echocardiograms were performed every few years, while electrocardiograms to assess underlying conduction defects were rarely performed in either age group. Conclusions: In Europe, guidelines for the management of TSC have been well established. However, in our hospital, the multiorgan system follow-up is not satisfactorily performed especially in adult patients. We decided the establishment of a TSC board in our hospital for the management of this multiorgan disorder.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"5-9 ","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36313325","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

An infant in whom contrast-enhanced fluid attenuated inversion recovery (FLAIR) MRI was useful for the diagnosis of meningitis and devising a treatment strategy. 对比增强液体减弱反转恢复(FLAIR) MRI对脑膜炎诊断和制定治疗策略有用的婴儿。

No To Hattatsu Pub Date : 2017-01-01

Shigeru Maruyama, Kazuki Kodera, Gen Kuratuji, Masashi Suda

{"title":"An infant in whom contrast-enhanced fluid attenuated inversion recovery (FLAIR) MRI was useful for the diagnosis of meningitis and devising a treatment strategy.","authors":"Shigeru Maruyama, Kazuki Kodera, Gen Kuratuji, Masashi Suda","doi":"","DOIUrl":"","url":null,"abstract":"A 3-month-old male was brought to our hospital due to fever, poor sucking, and a bulging anterior fontanel. His general condition was poor. Analysis of the cerebrospinal fluid (CSF) showed increases in the cell count (8/μl) and the polymorphonuclear leukocyte count (2/μl) but normal sugar (66 mg/dl) and protein (28 mg/dl) levels. A CSF smear showed no bacterial cells. The administration of antibacterial drugs was initiated, and head MRI was performed on the next day. Plain images revealed no abnormalities. However, contrast-enhanced fluid-attenuated inversion recovery (FLAIR) MRI showed clear contrast enhancement along the brain surface in the meninges of the left and right frontal and left parietal lobes and fluid retention accompanied by contrast enhancement in a part of the adjacent subdural space. These findings could be confirmed only by contrast-enhanced FLAIR MRI. A diagnosis of bacterial meningitis with an unknown cause was made, and the administration of 2 antibacterial drugs was continued. MRI on day 8 of the illness showed the disappearance of contrast enhancement, and plain FLAIR also facilitated a diagnosis of a subdural hygroma. The treatment was effective. At present, the patient is 1 year and 6 months old without sequelae. The diagnosis of bacterial meningitis in infants is difficult based on only symptoms. In its early stage with few abnormal findings in the CSF, diagnosis is sometimes difficult. Antibacterial drug administration should be immediately initiated. However, definite findings are necessary for the continuation of large amounts of antibacterial drugs. Contrast-enhanced FLAIR allows the sensitive visualization of meningeal inflammation and is useful as a complementary diagnostic method for meningitis. In addition, this technique can reveal marked inflammatory lesions such as a subdural hygroma in the early stage, providing information useful for making a diagnosis of bacterial meningitis.","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 1","pages":"42-5"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36314691","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 of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures. CDKL5障碍1例:通过简单的治疗策略改善顽固性癫痫发作的ADL。

No To Hattatsu Pub Date : 2017-01-01

Tatsuhiko Shike, Yukitoshi Takahashi, Nobusuke Kimura, Katsumi Imai, Toshiyuki Yamamoto, Takao Takahashi

引用次数: 0