Severe neurologic and hepatic toxicity in a newborn prenatally exposed to methamphetamine. A case report [0.03%]
产前接触甲基苯丙胺新生儿出现严重神经和肝毒性一例报告
Eugenia Maranella,Arianna Mareri,Valentina Nardi et al.
Eugenia Maranella et al.
Objective: In the recent years the increase of methamphetamines (MTA) abusers women has become an emerging problem. Very little data has been published regarding the effects of prenatal MTA exposure. We describe a case of...
Factors associated with electroencephalographic and clinical remission of benign childhood epilepsy with centrotemporal spikes [0.03%]
与儿童良性中央颞区棘波灶癫痫脑电图及临床缓解相关的因素分析
Eun Hye Lee,Su-Jeong You
Eun Hye Lee
Purpose: Benign childhood epilepsy with centrotemporal spikes (BECTS) is strongly related to age, both to age at the time of seizure onset and to age at remission. However, the age of remission varies. The present study a...
Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation [0.03%]
多例先天性小头畸形家系：基于WES检测的PNKP基因突变分析
Mona Entezam,Masoumeh Razipour,Saeed Talebi et al.
Mona Entezam et al.
Microcephaly is a rare neurological disorder, occurs in both isolated and syndromic forms. This classification could be confusing in rare disorders with variable phenotypic characteristics. However, identification of the causative gene thro...
Effects of human umbilical cord blood CD34+ cell transplantation in neonatal hypoxic-ischemia rat model [0.03%]
人脐带血CD34阳性细胞移植对新生缺氧缺血鼠模型的效果研究
Yan Yu,YiZhong Yan,Zhen Luo et al.
Yan Yu et al.
Perinatal brain injury can cause death in the neonatal period and lifelong neurodevelopmental deficits. Stem cell transplantation had been proved to be effective approach to ameliorate neurological deficits after brain damage. In this study...
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness [0.03%]
X染色体连锁的Charcot-Marie-Tooth病5型伴发热性疾病后反复出现的无力症
Noriko Nishikura,Takanori Yamagata,Takao Morimune et al.
Noriko Nishikura et al.
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in ...
Kenji Iwai,Kiyoko Amo,Ichiro Kuki et al.
Kenji Iwai et al.
Sjögren syndrome (SS) is a systemic inflammatory and autoimmune disease characterized by systemic disorders of the exocrine glands, predominantly the salivary and lacrimal glands. Here, we report a 4-year-old boy who presented with the rep...
Rufinamide efficacy and safety in children aged 1-4 years with Lennox-Gastaut syndrome [0.03%]
鲁非尼胺治疗1至4岁兰诺克斯-加斯特综合征患儿的疗效和安全性
Shin Hye Kim,Hoon-Chul Kang,Joon Soo Lee et al.
Shin Hye Kim et al.
Purpose: The treatment options for Lennox-Gastaut syndrome (LGS), a pediatric epileptic syndrome, are limited, especially in younger children. Rufinamide tablets were safe and effective as an add-on treatment in Korean ch...
Observational Study
Brain & development. 2018 Nov;40(10):897-903. DOI:10.1016/j.braindev.2018.07.020 2018
Jehan Suleiman,Ayman W El-Hattab
Jehan Suleiman
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency [0.03%]
芳香族L型氨基酸脱羧酶缺乏症两个中国大陆患者兄弟姐妹DDC基因新缺失突变病例报告
Lifang Dai,Changhong Ding,Fang Fang
Lifang Dai
Background: Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder in...
Fosphenytoin vs. continuous midazolam for pediatric febrile status epilepticus [0.03%]
丙氨酰谷氨酰胺与连续异丙酚用于儿童发热性癫痫持续状态的比较研究
Masahiro Nishiyama,Hiroaki Nagase,Kazumi Tomioka et al.
Masahiro Nishiyama et al.
Background: Fosphenytoin (fPHT) and continuous intravenous midazolam (cMDL) had commonly been used as second-line treatments for pediatric status epilepticus (SE) in Japan. However, there is no comparative study of these ...
Comparative Study
Brain & development. 2018 Nov;40(10):884-890. DOI:10.1016/j.braindev.2018.08.001 2018