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Brain & Development

Masahiko Kimura, Takeshi Taketani, Youichi Kurozawa
OBJECTIVES: To determine the incidence of prolonged febrile seizures and status epilepticus in the first three years of life. METHODS: A questionnaire was sent to 1560 families between April 2016 and March 2017 before their child attended a routine health check at three years of age in Izumo, Shimane prefecture, Japan. The questionnaire included an overview of febrile seizures, including the age at which febrile seizures occurred, the duration, and how the condition was managed...
August 12, 2019: Brain & Development
Tracey A Williams, Ruth K Brunsdon, Karen L O Burton, Suzi Drevensek, Candice Brady, Russell C Dale, Shekeeb S Mohammad
Acute necrotizing encephalopathy (ANE) is a rare form of acute encephalopathy, predominantly occurring in childhood, which has a typical radiological phenotype including bilateral, symmetrical, diffusion-restricted lesions of the thalami; posterior putamen; cerebellum; and brainstem. To date, no study has systematically examined the long-term cognitive and psychological impact of ANE. The current study describes the neuropsychological outcomes of three paediatric cases of ANE, ranging from 18 months to 10 years post ANE...
July 31, 2019: Brain & Development
Tatsuo Mori, Aya Goji, Yoshihiro Toda, Hiromichi Ito, Kenji Mori, Tomohiro Kohmoto, Issei Imoto, Shoji Kagami
In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10 months after birth...
July 25, 2019: Brain & Development
Akiko Shibata, Mariko Kasai, Ai Hoshino, Taku Miyagawa, Hiroshi Matsumoto, Gaku Yamanaka, Kenjiro Kikuchi, Ichiro Kuki, Akira Kumakura, Shinya Hara, Takashi Shiihara, Sawako Yamazaki, Masayasu Ohta, Takanori Yamagata, Jun-Ichi Takanashi, Masaya Kubota, Akira Oka, Masashi Mizuguchi
OBJECTIVES: Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), are severe with poor outcome, whereas others, such as clinically mild encephalitis/encephalopathy with reversible splenial lesion (MERS), are mild with favorable outcome. Previous study reported the association of the thermolabile polymorphism in Carnitine Palmitoyltransferase 2 (CPT2) gene and severe syndromes of acute encephalopathy...
July 24, 2019: Brain & Development
Katsuhiro Kobayashi, Fumika Endoh, Iori Ohmori, Tomoyuki Akiyama
The recent development of various new antiepileptic drugs (AEDs) has provided a wide range of therapeutic strategies for epilepsy. Information regarding the mechanisms of the action of AEDs is valuable when selecting drugs for individual epilepsy patients. AEDs can be categorized as those acting at the excitatory synapse, at the inhibitory synapse, on the extrasynaptic neuronal membrane, or with multiple or miscellaneous mechanisms of action. We herein briefly summarize and illustrate the action of AEDs on neurons and related findings that are pertinent to the clinical aspect of epileptology...
July 24, 2019: Brain & Development
Marc Nikolaus, Anna Tietze, Leonille Schweizer, Angela M Kaindl, Werner Stenzel, Markus Schuelke, Ellen Knierim
MELAS-syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with various presentations. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures, muscle weakness, recurrent headaches and vomiting, hearing impairment, and short stature. Uncommon clinical presentations like cerebral venous thrombosis, which is almost unprecedented for MELAS-syndrome, impede correct diagnosis. We describe a novel presentation of MELAS-syndrome with severe cerebral venous thrombosis (CVT) and inflammation with a vasculopathy that affects the venous system as well...
July 22, 2019: Brain & Development
Jiang Kaihua, Yi Yang, Zhao Fangqiao, Shen Huijuan, Wang Chaoqun, Dong Xuan
OBJECTIVE: To explore impaired cognition characteristics and abnormal behavior in children with Sleep-Disordered Breathing (SDB) via Event-Related Potentials (ERPs), continuous performance testing (CPT), and the Child Behavior Checklist (CBCL). METHODS: A total of 108 children aged 6-8 years old were recruited, including fifty-four children (28 boys) with SDB and fifty-four normal children (28 boys). CBCL and Chinese version of the OSA-18 questionnaire were administered...
July 20, 2019: Brain & Development
Kazumi Tomioka, Masahiro Nishiyama, Hiroaki Nagase, Yusuke Ishida, Tsukasa Tanaka, Shoichi Tokumoto, Hiroshi Yamaguchi, Daisaku Toyoshima, Azusa Maruyama, Kyoko Fujita, Kazunori Aoki, Yusuke Seino, Kandai Nozu, Noriyuki Nishimura, Hiroshi Kurosawa, Kazumoto Iijima
OBJECTIVE: Although the mortality among previously healthy children with acute encephalopathy (AE) is approximately 5%, their detailed clinical course has not been clarified. The objective of the present study was to describe the detailed clinical course, in minutes, of fatal AE. METHODS: We retrospectively reviewed the medical records of five patients (from 6 months to 14 years of age) who previously had no neurological disorders and were diagnosed with brain death due to AE between 2002 and 2018 at Kobe Children's Hospital...
July 20, 2019: Brain & Development
Ali Mir, Mohammed Chaudhary, Hani Alkhaldi, Rami Alhazmi, Raidah Albaradie, Yousef Housawi
No abstract text is available yet for this article.
July 19, 2019: Brain & Development
Wen-Hao Yu, Li-Wen Chen, Shan-Tair Wang, Yi-Fang Tu, Chao-Ching Huang
INTRODUCTION: The neurodevelopmental outcomes of young infants with hypoglycorrhachia that is comparable to glucose transporter 1 deficiency syndrome (GLUT1DS), i.e. cerebrospinal fluid (CSF) glucose ≤40 mg/dL and CSF lactate <2.2 mM without causes of secondary hypoglycorrhachia are unknown. This study investigated the developmental outcomes and possibility of GLUT1DS in infants with hypoglycorrhachia, or low CSF glucose concentration. MATERIAL AND METHODS: 1655 neurologically asymptomatic infants aged <4 months had CSF examinations for fever workup from 2006 to 2016...
July 17, 2019: Brain & Development
Anna Ka-Yee Kwong, Vanessa Loi-Yan Chu, Richard J T Rodenburg, Jan Smeitink, Cheuk-Wing Fung
BACKGROUND: ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS: We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknown genetic etiology of the youngest brother by whole exome sequencing. RESULTS: The youngest brother of this family presented with developmental regression, dystonia, epilepsy, microcephaly, visual impairment and oromotor dysfunction...
July 16, 2019: Brain & Development
Naomi Mitsuda, Takatoshi Hosokawa, Masamitsu Eitoku, Mikiya Fujieda, Narufumi Suganuma
OBJECTIVE: Our study was conducted to examine the association between breastfeeding and febrile seizures (FS) in the first year of life. METHODS: We used data from a birth cohort study, the Japan Environment and Children's Study (JECS). In a self-administered questionnaire, we asked participants the duration of breastfeeding and whether their children were diagnosed as having FS during their first 12 months. We estimated the association of duration and exclusiveness of breastfeeding with the FS by using multiple logistic regression analysis...
July 16, 2019: Brain & Development
Takahiro Nakayama, Akihiko Ishiyama, Terumi Murakami, En Kimura, Satoshi Kuru
BACKGROUND: Mercuri grading of muscle images is a useful method to evaluate the progression of muscular dystrophies. However, because Mercuri grading is skill-based, few competent experts are available. We therefore developed an automated method for Mercuri grade calculations. METHODS: We used computed tomography (CT) and magnetic resonance (MR) images of the thigh and lower leg muscles taken from a Japanese limb-girdle muscular dystrophy patient database. We calculated muscle impairment ratios based on the CT images, and then converted the ratios to revised Mercuri grades...
July 12, 2019: Brain & Development
Ayaka Hirasawa-Inoue, Akihiko Ishiyama, Eri Takeshita, Yuko Shimizu-Motohashi, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Shota Yuasa, Hirotomo Saitsu, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masayuki Sasaki
INTRODUCTION: A loss-of-function mutation in CACNA1A, which encodes P/Q-type Ca channels, causes various diseases. As most of the Ca channels at neuromuscular junctions are of the P/Q type, patients with loss-of-function CACNA1A mutations exhibit disturbed neuromuscular transmission. The associated jitters and blocking in such patients can be detected by single-fiber electromyography (SFEMG). CASES: We report two cases with different phenotypes, which were predicted to harbor loss-of-function mutations of CACNA1A, by using axonal stimulation SFEMG...
July 6, 2019: Brain & Development
Naomi Hino-Fukuyo, Kazuhiro Haginoya, Toshiyuki Takahashi, Ichiro Nakashima, Kazuo Fujihara, Yoshiki Takai, Manami Akasaka, Shigeo Kure
INTRODUCTION: There is increasing evidence that immunosuppressive therapy is essential for reducing disease activity and avoiding further attacks in patients positive for anti-myelin-oligodendrocyte glycoprotein (MOG) antibodies. However, to date, no placebo-controlled trial has been published. OBJECTIVE: We aimed to evaluate the long-term outcome and anti-MOG antibody titers of seropositive Japanese pediatric patients without long-term immunosuppressive therapy...
July 4, 2019: Brain & Development
Satoru Kobayashi, Kyoko Yokoi, Naomi Kamioka, Naoki Hamajima, Kyoko Ban, Hiroko Kodama, Satoshi Suzuki
Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A. Early diagnosis and treatment are important, although the diagnosis is difficult prior to 2 months of age. We present an unusually severe case of MD with skull fractures at the birth and repeated fractures during the neonatal period, with further examinations leading to diagnosis. The patient died due to hemorrhagic shock, due to multiple arterial occlusion despite initiation of copper-histidine therapy in early infancy...
July 3, 2019: Brain & Development
Yosuke Moteki, Hiroyuki Akagawa, Yasunari Niimi, Yoshikazu Okada, Takakazu Kawamata
Capillary malformation-arteriovenous malformation (CM-AVM, MIM#608354) is a rare autosomal dominant disorder characterized by multiple cutaneous capillary malformations co-occurring with fast-flow vascular anomalies, such as arteriovenous malformation or fistula. Despite the identification of RASA1 as the first causative gene in Western patients with CM-AVM, there have been no literature reports of Japanese patients with this gene mutation. We herein report two Japanese pedigrees harboring multiple affected members with CM-AVM...
June 20, 2019: Brain & Development
Yui Zen, Tomohiro Chiyonobu, Mariko Yuge, Isao Yokota, Masafumi Morimoto, Satoshi Teramukai, Hajime Hosoi
AIM: We examined whether developmental status and behavioral problems at age five were related to the occurrence of behavioral and emotional problems in the lower grades of elementary school among non-clinical children who did not receive specialized support for developmental problems in early childhood. METHODS: The participants were 367 (non-clinical: 325) second- and third-grade elementary school children. The mean age at follow-up was 7.63 (SD = 0.62). Parents completed a questionnaire about their children's developmental status and behavioral problems during a community health check-up for 5-year-olds...
June 18, 2019: Brain & Development
Tatsuya Fujii, Eri Takeshita, Yasuyuki Iwata, Hiroyuki Yajima, Fumihito Nozaki, Mioko Mori, Tomohiro Kumada
OBJECTIVES: Quantitative or semiquantitative outcome measures for patients with Duchenne muscular dystrophy (DMD) are important, as they can be objective indicators of the natural history of DMD; these measures also aid in the evaluation of the efficacy of various treatments. However, the most widely used standard outcome measures in patients with DMD, such as the North Star Ambulatory Assessment and the 6-min walk test, cannot be applied after patients have become nonambulatory. We evaluated the utility and reliability of accelerometric analysis of motor activity in nonambulatory patients with DMD...
June 15, 2019: Brain & Development
Mi Seon Lee, Su-Kyeung Hwang, Yeong Eun Kim, Jin Kyung Suh, Hyery Kim, So Mi Lee, Ji Yun Jeong, Soonhak Kwon, Yun Jeong Lee
BACKGROUND: Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorders (EBV-T/NK-LPD) is a group of rare disorders resulting from EBV-infected T/NK-cells. It manifests as a broad spectrum of clinical symptoms according to immunologic status and viral load of an infected patient. Here, we report a boy who developed central nervous system (CNS) vasculitis and myelopathy as possible neurologic manifestations of EBV-T/NK-LPD. CASE REPORT: A 16-year-old boy came to our hospital with a necrotic skin lesion on his right shoulder...
June 14, 2019: Brain & Development
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