Early prognostic factors for acute encephalopathy with reduced subcortical diffusion [0.03%]
急性亚皮层扩散减低综合征脑病早期预后因素分析
Tetsuhiro Fukuyama,Shouko Yamauchi,Shunsuke Amagasa et al.
Tetsuhiro Fukuyama et al.
Objective: The aim of this study was to determine the prognostic factors for acute encephalopathy with reduced diffusion (AED) during the acute phase through retrospective case evaluation. ...
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation [0.03%]
两个与FGF12突变相关的日本难治性癫痫性脑病病例报告
Ryo Takeguchi,Kazuhiro Haginoya,Yuri Uchiyama et al.
Ryo Takeguchi et al.
A heterozygous mutation in the fibroblast growth factor 12 (FGF12) gene, which elevates the voltage dependence of neuronal sodium channel fast inactivation, was recently identified in some patients with epileptic encephalopathy. Here we rep...
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico [0.03%]
墨西哥PTC基因的突变谱及新型变异体的计算机病理学评估
Cynthia Fernández-Lainez,Isabel Ibarra-González,Miguel Ángel Alcántara-Ortigoza et al.
Cynthia Fernández-Lainez et al.
Background: Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase (PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (PTPSD) is characterized by hyperphenyla...
Incidence and characteristics of norovirus-associated benign convulsions with mild gastroenteritis, in comparison with rotavirus ones [0.03%]
与轮状病毒相关的良性胃肠炎伴癲痫发作的发病及特点分析
Bo Ram Kim,Ga Eun Choi,Young Ok Kim et al.
Bo Ram Kim et al.
Background and purpose: Rotavirus was detected in 40-50% of patients with benign convulsions with mild gastroenteritis (CwG) before the rotavirus vaccine was introduced in late 2000. However, the rate of rotavirus positiv...
Comparative Study
Brain & development. 2018 Sep;40(8):699-706. DOI:10.1016/j.braindev.2018.04.001 2018
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene [0.03%]
Coffin-Lowry综合征合并RPS6KA3基因新突变患者的脑室周小囊性病变
Yohane Miyata,Ken Saida,Satoko Kumada et al.
Yohane Miyata et al.
Background: Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no spec...
Efficacy of CBD-enriched medical cannabis for treatment of refractory epilepsy in children and adolescents - An observational, longitudinal study [0.03%]
高剂量大麻二酚医用大麻对青少年难治性癫痫的疗效——一项观察性纵向研究
Moran Hausman-Kedem,Shay Menascu,Uri Kramer
Moran Hausman-Kedem
The objective of this observational study was to evaluate the efficacy of medical cannabis for the treatment of refractory epilepsy. Fifty-seven patients (age 1-20 years) with epilepsy of various etiologies were treated with Cannabis oil ex...
Observational Study
Brain & development. 2018 Aug;40(7):544-551. DOI:10.1016/j.braindev.2018.03.013 2018
Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies [0.03%]
利妥昔单抗治疗急性散在性脑脊髓炎后复发的视神经炎(伴抗少突胶质细胞糖蛋白抗体)有效
Masako Nagashima,Hitoshi Osaka,Takahiro Ikeda et al.
Masako Nagashima et al.
Background: The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. Patient: ...
Challenges and research progress of the use of mesenchymal stem cells in the treatment of ischemic stroke [0.03%]
间充质干细胞治疗缺血性卒中的研究进展与挑战
Jipeng Jiang,Yuting Wang,Baohu Liu et al.
Jipeng Jiang et al.
Cerebral Ischemic Stroke (CIS) has become a hot issue in medical research because of the diversity of risk factors and the uncertainty of prognosis. In the field of regenerative medicine, mesenchymal stem cells (MSCs) have an increasingly p...
The course of awake breathing disturbances across the lifespan in Rett syndrome [0.03%]
雷特综合征一生中清醒呼吸障碍的发生发展轨迹
Daniel C Tarquinio,Wei Hou,Jeffrey L Neul et al.
Daniel C Tarquinio et al.
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, is associated with a peculiar breathing disturbance exclusively during wakefulness that is distressing, and can even prompt emergency resusc...
Multicenter Study
Brain & development. 2018 Aug;40(7):515-529. DOI:10.1016/j.braindev.2018.03.010 2018
Maria Grazia Alessandrì,Roberta Milone,Claudia Casalini et al.
Maria Grazia Alessandrì et al.
Aminoacylase 1 deficiency (ACY1D) is a rare inborn error of metabolism characterized by increased urinary excretion of N-acetylated amino acids. Clinical phenotypes of 15 known patients with ACY1 deficiency have been described up to now. Fi...