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Brain & Development

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https://www.readbyqxmd.com/read/29132975/a-novel-temporal-pattern-of-childhood-cerebral-x-linked-adrenoleukodystrophy
#1
Emanuela C Turco, Francesca Ormitti, Anna Andreolli, Marina Barsacchi, Carlotta Facini, Francesco Pisani
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI...
November 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/29122401/the-efficacy-of-adrenocorticotropic-hormone-in-a-girl-with-anti-n-methyl-d-aspartate-receptor-encephalitis
#2
Mari Hatanaka, Shuichi Shimakawa, Akihisa Okumura, Jun Natsume, Miho Fukui, Shohei Nomura, Mitsuru Kashiwagi, Hiroshi Tamai
BACKGROUND: Immunomodulatory therapy has shown some therapeutic benefits in patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. In this report, we describe the use of adrenocorticotropic hormone (ACTH) immunotherapy with good outcome in a patient with anti-NMDAR encephalitis. SUBJECT AND METHODS: A 4-year-old girl developed convulsions in her right arm and leg without impaired consciousness. These convulsions occurred frequently in clusters of 10-20 events of 10-20 s duration...
November 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/29102468/determination-of-restless-legs-syndrome-prevalence-in-children-aged-13-16%C3%A2-years-in-the-provincial-center-of-kayseri
#3
LETTER
Hüseyin Per, Neslihan Günay, Sevda İsmailoğulları, Didem Behice Öztop, Osman Günay
No abstract text is available yet for this article.
November 1, 2017: Brain & Development
https://www.readbyqxmd.com/read/29100617/relationship-between-frequency-spectrum-of-heart-rate-variability-and-autonomic-nervous-activities-during-sleep-in-newborns
#4
Tsunenori Takatani, Yukihiro Takahashi, Ryota Yoshida, Ryuko Imai, Takao Uchiike, Masaharu Yamazaki, Midori Shima, Toshiya Nishikubo, Yoshito Ikada, Shinichi Fujimoto
INTRODUCTION: We analyzed the frequency spectrum of two neonatal sleep stages, namely active sleep and quiet sleep, and the relationship between these sleep stages and autonomic nervous activity in 74 newborns and 16 adults as a comparison. METHOD: Active and quiet sleep were differentiated by electroencephalogram (EEG) patterns, eye movements, and respiratory wave patterns; autonomic activity was analyzed using the RR interval of simultaneously recorded electrocardiogram (ECG) signals...
October 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/29110896/new-year-s-greetings
#5
EDITORIAL
Masashi Mizuguchi
No abstract text is available yet for this article.
October 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29066118/a-de-novo-p-arg756cys-mutation-in-atp1a3-causes-a-distinct-phenotype-with-prolonged-weakness-and-encephalopathy-triggered-by-fever
#6
Yuji Nakamura, Ayako Hattori, Mitsuko Nakashima, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Naoki Ando, Naomichi Matsumoto, Shinji Saitoh
Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3. A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age...
October 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/29056244/grin2a-mutations-in-epilepsy-aphasia-spectrum-disorders
#7
Xiaoling Yang, Ping Qian, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: Epilepsy-aphasia spectrum (EAS) are a group of epilepsy syndromes denoting an association between epilepsy, speech disorders and the EEG signature of centrotemporal spikes. Mutations in the GRIN2A gene, encoding the NMDA glutamate receptor α2 subunit were reported in focal epilepsy with speech disorder. We aimed to explore the role of GRIN2A mutations in patients with centrotemporal spikes related epileptic syndromes in a Chinese cohort. METHODS: Patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), atypical benign partial epilepsy (ABPE), and benign epilepsy with centrotemporal spikes (BECTS) were recruited...
October 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29054334/is-vatiquinone-truly-beneficial-for-leigh-syndrome
#8
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
October 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/29054333/developmental-trend-of-children-with-down-s-syndrome-how-do-sex-and-neonatal-conditions-influence-their-developmental-patterns
#9
Sayaka Aoki, Yuko Yamauchi, Keiji Hashimoto
OBJECTIVE: This study investigated factors that would influence developmental trend of children with Down's syndrome (DS) in three different domains (motor, cognitive, language), specifically focusing on the effect of sex and neonatal conditions, including preterm birth, low birth weight, and congenital heart disease (CHD). METHODS: The participants were 158 children with DS (mean age at the initial test = 25.5 months) receiving clinical service at a rehabilitation center in Yokohama, Japan...
October 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/29050838/three-children-of-meningoencephalitis-with-kikuchi-necrotizing-lymphadenitis
#10
Joung-Hee Byun, Su Eun Park, Sang Ook Nam, Young A Kim, Young Mi Kim, Gyu Min Yeon, Yun-Jin Lee
BACKGROUND: Kikuchi necrotizing lymphadenitis (KNL) is a rare and benign cause of lymphadenopathy, most often cervical. The etiology of KNL remains unknown. Central nervous system (CNS) involvement, such as in meningoencephalitis, is a very rare clinical manifestation of KNL, especially in children. CASE REPORTS: A 12-year-old boy presented with unilateral cervical lymphadenopathy and fever. Histopathological findings led to the diagnosis of KNL. He revisited due to severe headache and vomiting one week later...
October 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/29037447/a-quinidine-non-responsive-novel-kcnt1-mutation-in-an-indian-infant-with-epilepsy-of-infancy-with-migrating-focal-seizures
#11
Priyanka Madaan, Prashant Jauhari, Aparajita Gupta, Biswaroop Chakrabarty, Sheffali Gulati
Epilepsy of infancy with migrating focal seizures {a.k.a malignant migrating partial seizures of infancy (MMPSI)} is an uncommon epileptic encephalopathy with a poor prognosis. Migrating focal seizures with autonomic features, developmental stagnation and refractoriness to treatment are its key features. It is caused by genetic defects in various ion channels, most common being sodium activated potassium channel (KCNT1), found in up to 50% of cases. With advent of genetic diagnosis and precision medicine, many targeted therapies have been identified...
October 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28992996/attention-profiles-in-childhood-absence-epilepsy-compared-with-attention-deficit-hyperactivity-disorder
#12
Hyun-Jeong Lee, Eun-Hee Kim, Mi-Sun Yum, Tae-Sung Ko, Hyo-Won Kim
OBJECTIVE: This study aimed to compare the attention profiles of subjects with childhood absence epilepsy (CAE) to those of children with attention-deficit/hyperactivity disorder (ADHD) and controls. METHOD: We retrospectively reviewed the medical records of 20 children (age 7.2 ± 1.6 years, 5 boys) in whom CAE was diagnosed at the Department of Pediatric Neurology of Asan Medical Center, Seoul, Korea. ADHD and control subjects were selected from children who visited the Department of Pediatric Psychiatry and were confirmed as having or not having ADHD based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL)...
October 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/28965976/the-presence-of-diminished-white-matter-and-corpus-callosal-thinning-in-a-case-with-a-sox9-mutation
#13
Ayumi Matsumoto, Eri Imagawa, Noriko Miyake, Takahiro Ikeda, Mizuki Kobayashi, Masahide Goto, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia...
September 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28958731/brainstem-infarction-associated-with-hhv-6-infection-in-an-infant
#14
Aya Wada, Kazuhiro Muramatsu, Yasuo Sunaga, Takahisa Mizuno, Mariko Takei, Satoshi Ogasawara, Miho Uchida, Kiwako Tsukida, Masahiko Tashiro
INTRODUCTION: The relevant literature includes several case reports on cerebral infarction in children with HHV-6 infection; however, there is no report of brain stem infarction. CASE: An 11-month-old girl was hospitalized because of fever. She was unable to stand up and meet her mother's gaze. Magnetic resonance imaging (MRI) indicated a right pons and mid-brain lesion; a diagnosis of brainstem infarction was made. After her fever subsided, a rash developed on her trunk and limbs; blood examination results indicated a primary HHV-6 infection...
September 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/28958730/correlations-between-ugt2b7%C3%A2-2-gene-polymorphisms-and-plasma-concentrations-of-carbamazepine-and-valproic-acid-in-epilepsy-patients
#15
Hui Zhang, Wenfang Zhang, Yuechun Li, Jie Yan, Jinfeng Zhang, Baojun Wang
PURPOSE: The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS: A chemiluminescence immunoassay analyzer was used to detect the plasma concentrations of VPA or CBZ in patients. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze UGT2B7∗2 gene polymorphisms...
September 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/28935172/a-pediatric-case-with-peripheral-facial-nerve-palsy-caused-by-a-granulomatous-lesion-associated-with-cat-scratch-disease
#16
Chizuko Nakamura, Yuji Inaba, Keiko Tsukahara, Mie Mochizuki, Emi Sawanobori, Yozo Nakazawa, Kouki Aoyama
BACKGROUND: Cat scratch disease is a common infectious disorder caused by Bartonella henselae that is transmitted primarily by kittens. It typically exhibits a benign and self-limiting course of subacute regional lymphadenopathy and fever lasting two to eight weeks. The most severe complication of cat scratch disease is involvement of the nervous system, such as encephalitis, meningitis, and polyneuritis. Peripheral facial nerve palsy associated with Bartonella infection is rare; few reported pediatric and adult cases exist and the precise pathogenesis is unknown...
September 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28927557/cacna1a-related-early-onset-encephalopathy-with-myoclonic-epilepsy-a-case-report
#17
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age...
September 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28916229/japanese-leigh-syndrome-case-treated-with-epi-743
#18
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
#19
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
#20
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
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