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Brain & Development

Mayumi Matsuda, Nobuaki Iwasaki, Yuki Mataki, Hirotaka Mutsuzaki, Kenichi Yoshikawa, Kazushi Takahashi, Keiko Enomoto, Kumiko Sano, Aoi Kubota, Tomohiro Nakayama, Junko Nakayama, Haruka Ohguro, Masafumi Mizukami, Kazuhide Tomita
PURPOSE: The Hybrid Assistive Limb® (HAL®, CYBERDYNE) is a wearable robot that provides assistance to a patient while they are walking, standing, and performing leg movements based on the wearer's intended movement. The effect of robot-assisted training using HAL® for cerebral palsy (CP) is unknown. Therefore, we assessed the effect of robot-assisted training using HAL® on patients with CP, and compared walking and gross motor abilities between pre-intervention and post-intervention...
May 14, 2018: Brain & Development
Hunmin Kim, Soo Yeon Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Dennis J Dlugos
PURPOSE: This study was performed 1) to determine the timing of spike normalization in patients with benign epilepsy with centrotemporal spikes (BECTS); 2) to identify relationships between age of seizure onset, age of spike normalization, years of spike persistence and treatment; and 3) to assess final outcomes between groups of patients with or without spikes at the time of medication tapering. METHODS: Retrospective analysis of BECTS patients confirmed by clinical data, including age of onset, seizure semiology and serial electroencephalography (EEG) from diagnosis to remission...
May 10, 2018: Brain & Development
Kohji Kato, Seiji Mizuno, Mie Inaba, Shinobu Fukumura, Naoko Kurahashi, Koichi Maruyama, Daisuke Ieda, Kei Ohashi, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh
BACKGROUND: Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated. METHODS: PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay...
May 8, 2018: Brain & Development
Sila Ulus, Cem Turam, Deniz Mutlu, Ipek Inal Kaleli, Mert Kocak, Umit Aksoy Ozcan
OBJECTIVES: Diagnosis of ventriculomegaly (VM) and identification of choroid plexus (CP) can be challenging with fetal magnetic resonance imaging (MRI). Our aim is to create an adjunct method for supporting the diagnosis of VM by investigating the CP-ventricular wall separation distance in fetuses with and without VM (nV) with fetal MRI. METHODS: T2-weighted fetal MRIs of 154 fetuses were retrospectively evaluated. The CP separation was defined as the distance between the medial wall of the dependent ventricle and distal tip of the CP glomus...
May 5, 2018: Brain & Development
Josef Finsterer
No abstract text is available yet for this article.
May 5, 2018: Brain & Development
Shin-Ichiro Hamano, Toshisaburo Nagai, Ryuki Matsuura, Yuko Hirata, Satoru Ikemoto, Atsuko Oba, Erika Hiwatari
OBJECTIVE: To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS: We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated training facility for epilepsy in Japan. A questionnaire was used to investigate use of adrenocorticotropic hormone (ACTH) therapy including daily dose, treatment duration, and tapering off period, and preferred first to fifth-line treatment choices...
May 3, 2018: Brain & Development
Saori Miyagishima, Tadayoshi Asaka, Kaori Kamatsuka, Naoki Kozuka, Masaki Kobayashi, Lisa Igarashi, Tsukasa Hori, Hiroyuki Tsutsumi
AIMS: We conducted a longitudinal cohort study to analyze the relationship between outcome of gross motor development in preterm infants and factors that might affect their development. METHODS: Preterm infants with a birth weight of <1500 g were recruited. We measured spontaneous antigravity limbs movements by 3D motion capture system at 3 months corrected age. Gross motor developmental outcomes at 6 and 12 months corrected age were evaluated using the Alberta Infant Motor Scale (AIMS)...
April 30, 2018: Brain & Development
Tetsuhiro Fukuyama, Shouko Yamauchi, Shunsuke Amagasa, Yuka Hattori, Taku Sasaki, Hideko Nakajima, Yuko Takei, Jiu Okuno, Yuka Misawa, Noboru Fueki, Masatomo Kitamura, Hikoro Matsui, Yuji Inaba, Shinichi Hirabayashi
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. METHODS: The participants included 23 patients with AED. The diagnosis of AED was based on their clinical course and radiological findings. We divided the patients into severe and non-severe groups based on the neurodevelopmental outcome. The severe group included seven patients (median age, 21 months; range, 6-87 months) and the non-severe group included 16 patients (19 months, 9-58 months)...
April 28, 2018: Brain & Development
Ryo Takeguchi, Kazuhiro Haginoya, Yuri Uchiyama, Atsushi Fujita, Michiaki Nagura, Eri Takeshita, Takehiko Inui, Yukimune Okubo, Ryo Sato, Takuya Miyabayashi, Noriko Togashi, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Masayuki Sasaki
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 report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). These 2 patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing...
April 23, 2018: Brain & Development
Cynthia Fernández-Lainez, Isabel Ibarra-González, Miguel Ángel Alcántara-Ortigoza, Liliana Fernández-Hernández, Sergio Enríquez-Flores, Ariadna González-Del Ángel, Nenad Blau, Beat Thöny, Sara Guillén-López, Leticia Belmont-Martínez, Matilde Ruiz-García, Marcela Vela-Amieva
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 hyperphenylalaninemia (HPA) and deficit in central monoamine neurotransmitters. We describe the clinical and mutational spectrum of five patients with PTPSD, from four unrelated Mexican families. All patients had symptomatic diagnosis and presented severe early neurological manifestations and HPA...
April 20, 2018: Brain & Development
Bo Ram Kim, Ga Eun Choi, Young Ok Kim, Min Ji Kim, Eun Song Song, Young Jong Woo
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 positivity has decreased since 2010 while the prevalence of norovirus has gradually increased. We investigated the incidence of norovirus-associated CwG during a recent 3-year period and additionally compared the characteristics of norovirus-associated CwG with those of rotavirus-associated CwG...
April 19, 2018: Brain & Development
Yohane Miyata, Ken Saida, Satoko Kumada, Noriko Miyake, Hideaki Mashimo, Yuya Nishida, Ikuko Shirai, Eiji Kurihara, Yasuhiro Nakata, Naomichi Matsumoto
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 specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose-especially in young children, where the characteristic craniofacial features are less discernible. CASE: Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene...
April 17, 2018: Brain & Development
Moran Hausman-Kedem, Shay Menascu, Uri Kramer
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 extract (CBD/THC ratio of 20:1) for at least 3 months (Median follow up time-18 months). Forty-Six Patients were included in the efficacy analysis. Average CBD dose was11.4 mg/kg/d. Twenty-six patients (56%) had ≤50% reduction in mean monthly seizure frequency. There was no statistically significant difference in response rate among various epilepsy etiologies, and cannabis strain used...
April 16, 2018: Brain & Development
Masako Nagashima, Hitoshi Osaka, Takahiro Ikeda, Ayumi Matsumoto, Akihiko Miyauchi, Kimihiko Kaneko, Ichiro Nakashima, Yuko Nakano, Kei Wakabayashi, Yukifumi Monden, Takanori Yamagata
BACKGROUND: The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT: We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurrent ON. She developed altered mental status, left facial paralysis, left paresis, and experienced three episodes of ON. She was treated with rituximab and azathioprine (AZA) as prevention for recurrent ON...
April 13, 2018: Brain & Development
Jipeng Jiang, Yuting Wang, Baohu Liu, Xuyi Chen, Sai Zhang
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 prominent position due to their advantages of multiple differentiation, low immunogenicity and wide application. In the basic and clinical research of CIS, there are still some problems to be solved in the treatment of CIS. This paper will discuss the progresses and some obstacles of current MSCs for the treatment of CIS...
April 13, 2018: Brain & Development
Daniel C Tarquinio, Wei Hou, Jeffrey L Neul, Gamze Kilic Berkmen, Jana Drummond, Elizabeth Aronoff, Jennifer Harris, Jane B Lane, Walter E Kaufmann, Kathleen J Motil, Daniel G Glaze, Steven A Skinner, Alan K Percy
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 resuscitation. Through the RTT Natural History Study, we characterized cross sectional and longitudinal characteristics of awake breathing abnormalities in RTT and identified associated clinical features. Participants were recruited from 2006 to 2015, and cumulative lifetime prevalence of breathing dysfunction was determined using the Kaplan-Meier estimator...
April 12, 2018: Brain & Development
Maria Grazia Alessandrì, Roberta Milone, Claudia Casalini, Claudia Nesti, Giovanni Cioni, Roberta Battini
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. Findings are greatly variable, ranging from normality to relevant neurological and psychiatric impairments, but clinical follow up has been rarely reported. To partially fill this gap, we present a detailed clinical description and the outcome four years post-diagnosis of a patient already described, with mild intellectual disability, language delay, autistic traits and compound heterozygous mutations in ACY1...
April 10, 2018: Brain & Development
Azusa Ikeda, Megumi Tsuji, Tomohide Goto, Mizue Iai
BACKGROUND: Non-invasive positive pressure ventilation (NPPV) in children has recently increased worldwide and is used not only for neuromuscular diseases but for various other diseases. However, there have been few observational studies on long-term NPPV in children in Japan. METHODS: Based on medical records, we retrospectively evaluated patients aged ≤20 years who were initiated long-term NPPV at our hospital from January 2001 to December 2015. RESULTS: A total of 53 patients on long-term NPPV were identified; 38 (72%) had severe motor and intellectual disabilities (SMID)...
April 7, 2018: Brain & Development
Tsutomu Shioda, Satoru Takahashi, Tadashi Kaname, Toyohiro Yamauchi, Tetsuya Fukuoka
Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2 (MECP2). It almost exclusively affects the female sex and is considered lethal in the male sex. However, an increasing number of male patients with MECP2 mutations have been reported, including patients who suddenly died of unknown causes. We report a case of MECP2 mutation in a male patient who exhibited neonatal encephalopathy. He developed severe apnea, epilepsy, and psychomotor developmental delay and died suddenly of sick sinus syndrome at 17 months of age...
April 6, 2018: Brain & Development
Da-Jyun Su, Jyh-Feng Lu, Li-Ju Lin, Jao-Shwann Liang, Kun-Long Hung
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports...
April 3, 2018: Brain & Development
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