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Brain & Development

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https://www.readbyqxmd.com/read/28916229/japanese-leigh-syndrome-case-treated-with-epi-743
#1
Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, Hiroko Shimbo, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Matthew B Klein, Guy Miller, Tomohide Goto, Hitoshi Osaka
BACKGROUND: Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating. CASE: At 5months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings...
September 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28899595/peripheral-nerve-pathology-at-fixed-stage-in-spinal-muscular-atrophy-with-respiratory-distress-type-1
#2
Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, Mio Tanaka, Yukichi Tanaka, Akihiro Hashiguchi, Hiroshi Takashima, Tomohide Goto
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness in early infancy. After an initial decline in respiratory state and motor function until 1-2years of age, residual capabilities reach a plateau. We report the peripheral neuropathological findings of a patient with SMARD1 at 1year and 1month of age, when his muscle strength and respiratory symptoms had deteriorated and then stabilized for several months...
September 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#3
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28882326/avoid-mitochondrion-toxic-antiepileptic-drugs-in-glycine-encephalopathy
#4
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
September 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28844524/mechanical-thrombectomy-for-pediatric-acute-stroke-and-ventricular-assist-device
#5
Robert Clinton Stowe, Peter Kan, Day Burruss Breen, Sonika Agarwal
BACKGROUND: Certain pediatric populations have increased risk of ischemic strokes, including those with cardiac disease and those dependent on mechanical circulatory devices such as ventricular assist devices. Due to their need for chronic anticoagulation, patients with mechanical circulatory devices are not candidates for systemic thrombolysis and thus treatment of acute ischemic stroke is limited. CASE: A 9-year-old boy with a ventricular assist device presented with acute onset of dense right hemiparesis, global aphasia, and a pediatric NIHSS score of 23...
August 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28838686/use-of-high-b-value-diffusion-weighted-magnetic-resonance-imaging-in-acute-encephalopathy-encephalitis-during-childhood
#6
Yoshiko Tsubouchi, Shinji Itamura, Yoshiaki Saito, Eijiro Yamashita, Yuki Shinohara, Tetsuya Okazaki, Koyo Ohno, Yoko Nishimura, Masayoshi Oguri, Yoshihiro Maegaki
AIM: To determine the use of high b value diffusion-weighted imaging (DWI) in the diagnosis and assessment of acute febrile encephalopathy/encephalitis in childhood. SUBJECTS AND METHODS: We enrolled 22 children, for whom we examined DWI with b=1000s/mm(2), DWI with b=3000s/mm(2), and apparent diffusion coefficient (ADC) map with b=1000 during the acute phase of febrile encephalopathy/encephalitis. Clinical diagnoses included acute encephalopathy with biphasic seizures and late reduced diffusion (AESD; n=6), clinically mild encephalopathy/encephalitis with a reversible splenial lesion (MERS; n=6), and herpes simplex virus encephalitis (HSE; n=3), unclassified acute encephalopathy/acute encephalitis (n=2); acute encephalitis with refractory, repetitive partial seizures (AERRPS; n=1); other encephalopathy (n=1); infarction (n=1); head injury (n=1); or mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (n=1)...
August 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/28823645/ictal-single-photon-emission-computed-tomography-of-myoclonic-absence-seizures
#7
Hiroko Ikeda, Katsumi Imai, Hitoshi Ikeda, Kazumi Matsuda, Yukitoshi Takahashi, Yushi Inoue
BACKGROUND: Epilepsy with myoclonic absences (EMAs) is a rare epileptic disorder characterized by a predominant type of seizures, myoclonic absences (MAs). The pathophysiology of MAs in patients with EMAs remains unknown. Here, we report the first characterization of the ictal phase of MAs by single photon emission computed tomography (SPECT). METHODS: We evaluated 1 male (Patient 1) and 1 female (Patient 2) patient with EMAs, aged 8 and 4years at first SPECT investigation, respectively...
August 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28803681/a-survey-on-stimuli-for-visual-cortical-function-assessment-in-infants
#8
REVIEW
Farveh Daneshvarfard, Nasrin Maarefi, Hamid Abrishami Moghaddam, Fabrice Wallois
Visual processing, as a significant and complex functionality of the human brain, changes during the life span with the most developmental changes in the infancy. Different types of visual stimuli are needed for evaluating different functionalities of the infants' visual system. Selecting appropriate visual stimuli is an important issue in evaluating visual cortical functions in infants. Properties of stimulation influence responses of visual system and must be adjusted according to the age and specific function which is going to be investigated...
August 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/28802630/infantile-hypophosphatasia-combined-with-vitamin-b6-responsive-seizures-and-reticular-formation-lesions-on-magnetic-resonance-imaging-a-case-report
#9
Mitsuharu Fukazawa, Junichiro Tezuka, Momoko Sasazuki, Natsuko Masumoto, Haruhisa Baba, Takehiko Doi, Yasushi Tsutsumi, Yuji Mizuno, Futoshi Mihara, Hideki Nakayama
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. CASE PRESENTATION: A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate)...
August 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28801087/cause-of-acute-encephalitis-encephalopathy-in-japanese-children-diagnosed-by-a-rapid-and-comprehensive-virological-detection-system-and-differences-in-their-clinical-presentations
#10
Kei Takasawa, Ryuichi Nakagawa, Shigeru Takishima, Kengo Moriyama, Ken Watanabe, Koji Kiyohara, Takeshi Hasegawa, Masahiro Shimohira, Kenichi Kashimada, Norio Shimizu, Tomohiro Morio
BACKGROUND: Acute encephalitis/encephalopathy (AE/E) is a rare and severe complication of common childhood infections; however, a treatment strategy based on clinical and pathological evidence has not been established. METHODS: The clinical data and aetiological results using a rapid and comprehensive virological detection system of 62 Japanese children diagnosed with AE/E from 2010 to 2014 were collected. We assessed clinical differences between causes and effectiveness of our multiplex PCR system to establish a pathogen-based treatment strategy for AE/E...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#11
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28801085/measuring-in-vivo-cerebral-maturation-using-age-related-t2-relaxation-times-at-3t
#12
Eva Bültmann, Loukia M Spineli, Hans Hartmann, Heinrich Lanfermann
OBJECTIVE: To examine age-related changes in T2 relaxation times during infancy and childhood in order to assess T2 values obtained from routine MRI as a biomarker. METHODS: From our pool of clinical pediatric MRI examinations at 3T all patients with normal conventional MRI scans were retrospectively selected. Depending on their clinical findings the identified 99 patients (0-199months) were divided into 43 healthy controls and 56 diseased children with various clinical abnormalities (developmental delay, epilepsy, prematurity, and deafness)...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28784301/hashimoto-encephalopathy-in-pediatric-patients-homogeneity-in-clinical-presentation-and-heterogeneity-in-antibody-titers
#13
Jiwon Lee, Hee Joon Yu, Jeehun Lee
OBJECTIVE: Hashimoto encephalopathy is an autoimmune encephalopathy characterized by elevated antithyroid antibodies and a favorable response to corticosteroid. This study delineated the clinical characteristics of pediatric Hashimoto encephalopathy and the significance of low antithyroid antibody titers in diagnosis and treatment. SUBJECTS AND METHODS: Clinical manifestations, antibody titers, and treatment responses were retrospectively reviewed in six consecutive children diagnosed with Hashimoto encephalopathy between August 2008 and July 2016...
August 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28781028/hypoplastic-hippocampus-in-atypical-rett-syndrome-with-a-novel-foxg1-mutation
#14
Kotoha Harada, Mayumi Yamamoto, Yukihiko Konishi, Kaori Koyano, Satoru Takahashi, Masanori Namba, Takashi Kusaka
The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypoplastic corpus callosum, delayed myelination, and frontal and temporal atrophy. Although no report has described a hippocampal abnormality in humans, the current study suggests that FOXG1 also regulates neurogenesis in the postnatal hippocampus. In the present case, severe developmental delay was observed in a patient with a congenital variant of RTT from about 4months, in conjunction with acquired microcephaly, hypotonia, limited motor function, absent purposeful hand use, and repetitive jerky movements of the upper limbs...
August 3, 2017: Brain & Development
https://www.readbyqxmd.com/read/28774670/exploring-a-method-for-evaluation-of-preschool-and-school-children-with-autism-spectrum-disorder-through-checking-their-understanding-of-the-speaker-s-emotions-with-the-help-of-prosody-of-the-voice
#15
Mayumi Horie, Hitoshi Okamura
PURPOSE: We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children with attention deficit hyperactivity disorder (ADHD children), and to explore, based on the results, a method for objective evaluation of children with ASD in the early and later periods of childhood...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#16
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28757110/quantitative-eeg-findings-and-response-to-treatment-with-antiepileptic-medications-in-children-with-epilepsy
#17
Chen-Sen Ouyang, Ching-Tai Chiang, Rei-Cheng Yang, Rong-Ching Wu, Hui-Chuan Wu, Lung-Chang Lin
BACKGROUND: Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE: In this study, we try to use quantitative EEG (QEEG) analysis as a biomarker to evaluate therapeutic effectiveness. METHODS: 20 epileptic children were enrolled in this study...
July 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/28756000/a-novel-mutation-of-wdr62-gene-associated-with-severe-phenotype-including-infantile-spasm-microcephaly-and-intellectual-disability
#18
Rosaria Nardello, Antonina Fontana, Vincenzo Antona, Annalisa Beninati, Giuseppe Donato Mangano, Maria Cristina Stallone, Salvatore Mangano
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly (MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells...
July 26, 2017: Brain & Development
https://www.readbyqxmd.com/read/28750723/intra-individual-cognitive-imbalance-in-asd-between-perceptual-reasoning-and-ambiguity-solving-related-to-tool-use-comparison-among-children-exhibiting-asd-ad-hd-and-typical-development
#19
Keisuke Wakusawa, Chieko Nara, Yuki Kubota, Yayoi Tomizawa, Yasuyuki Taki, Yuko Sassa, Satoru Kobayashi, Sato Suzuki-Muromoto, Mieko Hirose, Hiroyuki Yokoyama, Takahiro Nara, Shigeo Kure, Norio Mori, Noriyoshi Takei, Ryuta Kawashima
OBJECTIVE: Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons...
July 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28734692/respiratory-arrest-at-the-onset-of-idiopathic-childhood-occipital-epilepsy-of-gastaut
#20
Keiko Funata, Tatsuhiko Shike, Toshiki Takenouchi, Yukio Yamashita, Takao Takahashi
Occipital lobe epilepsy of childhood includes two entities: Panayiotopoulos syndrome in pre-school children, and idiopathic childhood occipital epilepsy of Gastaut (ICOEG) in school-age children. The typical initial manifestation of the former is vomiting, and that of the latter is visual hallucinations. Ictal cardiopulmonary arrest at initial presentation has been reported for Panayiotopoulos syndrome, but not for ICOEG. We document a 7-year-old previously healthy girl who experienced an acute elemental visual hallucination of seeing insects, followed by a new-onset generalized seizure...
July 19, 2017: Brain & Development
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