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Brain & Development

Kazuhiro Muramatsu, Noriko Sawaura, Tomomi Ogata, Nishiki Makioka, Keiko Tomita, Toshino Motojima, Kuniko Ida, Kyoko Hazama, Hirokazu Arakawa
INTRODUCTION: Levetiracetam has a high tolerability and is effective against various seizure types and epilepsy syndromes. However, no study has specifically evaluated the efficacy of levetiracetam in children with refractory epilepsy based on magnetic resonance imaging (MRI) findings and the presence of intellectual disability (ID). METHODS: We retrospectively evaluated levetiracetam efficacy and safety in 49 pediatric patients who met the following inclusion criteria: (1) diagnosis of refractory epilepsy with first-line antiepileptic (AED) treatment ⩾2years, (2) younger than 20years old, and (3) received oral levetiracetam treatment for ⩾6months...
October 13, 2016: Brain & Development
Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima, Noriyuki Akasaka, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement. Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy...
October 12, 2016: Brain & Development
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
Takahiro Yamamoto, Wakaba Endo, Hidenori Ohnishi, Kazuo Kubota, Norio Kawamoto, Takehiko Inui, Atsushi Imamura, Jun-Ichi Takanashi, Masaaki Shiina, Hirotomo Saitsu, Kazuhiro Ogata, Naomichi Matsumoto, Kazuhiro Haginoya, Toshiyuki Fukao
BACKGROUND: Asparagine synthetase (ASNS) deficiency was recently discovered as a metabolic disorder of non-essential amino acids, and presents as severe progressive microcephaly, intellectual disorder, dyskinetic quadriplegia, and intractable seizures. METHODS: Two Japanese children with progressive microcephaly born to unrelated patients were analyzed by whole exome sequencing and novel ASNS mutations were identified. The effects of the ASNS mutations were analyzed by structural evaluation and in silico predictions...
October 12, 2016: Brain & Development
Salvatore Grosso, Maria Alessandra Carluccio, Elena Cardaioli, Alfonso Cerase, Alessandro Malandrini, Chiara Romano, Antonio Federico, Maria Teresa Dotti
BACKGROUND: Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. CASE PRESENTATION: We report a 9year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome...
October 11, 2016: Brain & Development
Tomoyuki Kawada
No abstract text is available yet for this article.
October 8, 2016: Brain & Development
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai
INTRODUCTION: Hepatosplenomegaly is often present in infantile Sanshoff disease. However, cardiac involvement is extremely uncommon. CASE REPORT: We describe a 14-month-old female baby who exhibited mitral regurgitation and cardiomegaly at the age of 2months, dilation of the left atrium and left ventricle at age of 6months, followed by regression of developmental milestones after an episode of minor infection at age of 14months. Brain magnetic resonance imaging revealed signal changes over the bilateral thalami, bilateral cerebral white matter and left putamen...
September 30, 2016: Brain & Development
Sudhir Adhikari, Kalipatnam Seshagiri Rao
BACKGROUND: Perinatal asphyxia with hypoxic ischemic encephalopathy (HIE) causes significant mortality and morbidity in developing countries. There is limited information about long term neurodevelopmental outcome of infants with neonatal encephalopathy. METHODS: Term infants with the diagnosis of perinatal asphyxia were followed up in neurodevelopmental clinics of Manipal Teaching hospital, Nepal. Study design was prospective mixed longitudinal study. Prematurity, major congenital malformations, other intracranial pathology, birth weight <2500g and chromosomal abnormalities were excluded...
September 30, 2016: Brain & Development
Yukako Muramatsu, Yoshihito Tokita, Seiji Mizuno, Miho Nakamura
BACKGROUND: Williams syndrome (WS) is known for its uneven cognitive abilities, especially the difficulty in visuo-spatial cognition, though there are some inter-individual phenotypic differences. It has been proposed that the difficulty in visuo-spatial cognition of WS patients can be attributed to a haploinsufficiency of some genes located on the deleted region in 7q11.23, based on an examination of atypical deletions identified in WS patients with atypical cognitive deficits. According to this hypothesis, the inter-individual differences in visuo-spatial cognitive ability arise from variations in deletion...
September 29, 2016: Brain & Development
Masataka Fukuoka, Ichiro Kuki, Hisashi Kawawaki, Kiyohiro Kim, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Shin Okazaki
An 11-year-old boy presented with progressive leg hypesthesia but no history of trauma. Dysuria and constipation appeared subsequent to gait difficulty. He was admitted 8days after onset. Spinal magnetic resonance imaging (MRI) revealed longitudinal hyperintensity with cord swelling and hypointensity on T2-weighted images, suggesting severe inflammation and microbleeding change, respectively. Gadolinium contrast-enhanced MRI demonstrated mild enhancement in the lesions. Platelet count and coagulation findings were normal, and cerebrospinal fluid analysis showed no pleocytosis...
September 26, 2016: Brain & Development
Dongpyo Lee, Junge Liang, Yun Jung Hur, Nam-Young Kim, Heung Dong Kim
OBJECTIVE: The purpose of the current study was to characterize the frequency profiles of epileptogenic regions, independent of visible epileptiform discharges, in intracranial EEG (iEEG) recordings of Lennox-Gastaut syndrome (LGS) patients. METHODS: We selected eight LGS patients who underwent resective surgery in the absence of definite neuroimaging findings. We calculated the absolute and relative band powers of continuous spike-free iEEG data and compared the characteristics of the resected and remaining regions...
September 26, 2016: Brain & Development
Mari Matsuo, Akemi Yamauchi, Yasushi Ito, Masako Sakauchi, Toshiyuki Yamamoto, Nobuhiko Okamoto, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kayoko Saito
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. Electroencephalography revealed occasional spike discharges from the right frontal area. Head magnetic resonance imaging revealed dilatation of the lateral ventricles and a small frontal lobe volume. Whole exome sequencing revealed a de novo frame shift mutation, c...
September 23, 2016: Brain & Development
Huseyin Per, Neslihan Gunay, Sevda Ismailogullari, Didem Behice Oztop, Osman Gunay
OBJECTIVE: This study was conducted to determine the prevalence rate of restless legs syndrome (RLS) and associated factors in adolescents aged 13-16years in the provincial center of Kayseri. MATERIALS AND METHODS: The study sample included 5720 adolescents who were selected from among 74,421 grade 7-10 students aged 13-16years in the provincial center of Kayseri. Overall, datas from 4792 subjects were included into analysis. Data were collected by using a self reported questionnaire and the Epworth Sleepiness Scale (ESS)...
September 22, 2016: Brain & Development
Tomoka Uchiyama, Takahiro Nakayama, Satoshi Kuru
OBJECTIVES: This study aimed to use bioelectrical impedance analysis (BIA) to generate a new muscle density index (MDI), the MDI_BIA, to evaluate muscle development, and to demonstrate the changes that occur in the BIA-based muscle cross-sectional area index (MCAI_BIA) that accompany growth. We also sought to determine the traceability of chronological changes in the MDI_BIA and MCAI_BIA. METHODS: Healthy children (n=112) aged 8.68±3.16years (0.33-14.00years) underwent bioelectrical impedance (BI) measurements of their upper arms, thighs, and lower legs...
September 21, 2016: Brain & Development
Attila Altunel, Ali Sever, Emine Özlem Altunel
INTRODUCTION: Etiology of stuttering remains unknown and no pharmacologic intervention has been approved for treatment. We aimed to evaluate EEG parameters and the effect of adrenocorticotropic hormone (ACTH) therapy in stuttering. METHODS: In this retrospective study, 25 patients with attention deficit and hyperactivity (ADHD) or autism spectrum disorder (ASD), and comorbid stuttering were followed and treated with ACTH for electrical status epilepticus in sleep (ESES)...
September 16, 2016: Brain & Development
Yavuz Sahin, Olcay Güngör, Akif Ayaz, Gülay Güngör, Bedia Sahin, Kursad Yaykasli, Serdar Ceylaner
Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene...
September 15, 2016: Brain & Development
Lorena Travaglini, Chiara Aiello, Viola Alesi, Sara Loddo, Antonio Novelli, Giulia Tozzi, Enrico Bertini, Vincenzo Leuzzi, Francesco Brancati
No abstract text is available yet for this article.
September 14, 2016: Brain & Development
Tatsuya Ogino, Kaoru Hanafusa, Teruko Morooka, Akihito Takeuchi, Makio Oka, Yoko Ohtsuka
OBJECTIVE: To clarify cognitive processes underlining the development of reading in children speaking Japanese as their first language, we examined relationships between performances of cognitive tasks in the preschool period and later reading abilities. METHODS: Ninety-one normally developing preschoolers (41 girls and 50 boys; 5years 4months to 6years 4months, mean 5years 10months) participated as subjects. We conducted seven cognitive tasks including phonological awareness tasks, naming tasks, and working memory tasks in the preschool period...
September 13, 2016: Brain & Development
Akihito Takeuchi, Takashi Yorifuji, Kyohei Takahashi, Makoto Nakamura, Misao Kageyama, Toshihide Kubo, Tatsuya Ogino, Katsuhiro Kobayashi, Hiroyuki Doi
BACKGROUND: Small for gestational age (SGA) birth is linked with neurological deficits among children at pre-school age, but the evidence is still limited on whether such deficits are still observable at school age. We investigated the association between SGA birth and behavioral development at school age among full-term infants. METHODS: We analyzed data from a large, Japanese, nationwide, population-based longitudinal survey that started in 2001. We restricted the study participants to children born at 37-41weeks of gestation with information on birth weight and behavioral outcomes at 8years of age (n=33,795)...
September 10, 2016: Brain & Development
Yo Niida, Ayano Yokoi, Mondo Kuroda, Yusuke Mitani, Hiroyasu Nakagawa, Mamoru Ozaki
No abstract text is available yet for this article.
September 8, 2016: Brain & Development
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