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Brain & Development

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https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#1
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27923529/total-corpus-callosotomy-for-epileptic-spasms-after-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion-aesd-in-a-case-with-tuberous-sclerosis-complex
#2
Tohru Okanishi, Ayataka Fujimoto, Hirotaka Motoi, Sotaro Kanai, Mitsuyo Nishimura, Tomohiro Yamazoe, Atsushi Takagi, Takamichi Yamamoto, Hideo Enoki
Corpus callosotomy is a palliative therapy for refractory epilepsy, including West syndrome, without a resectable epileptic focus. The surgical outcome of corpus callosotomy is relatively favorable in cryptogenic (non-lesional) West syndrome. Tuberous sclerosis complex (TSC) is a disorder that frequently leads to the development of refractory seizures by multiple cortical tubers. The multiple cortical tubers cause multiple or wide epileptic networks in these cases. Most of West syndrome cases in TSC with multiple tubers need additional resective surgery after corpus callosotomy...
December 3, 2016: Brain & Development
https://www.readbyqxmd.com/read/27923528/early-onset-epileptic-encephalopathy-in-infants-with-different-forms-of-congenital-disorders-of-glycosylation-cdg
#3
LETTER
Agata Fiumara, Rita Barone, Giuliana Del Campo, Pasquale Striano, Jaak Jaeken
No abstract text is available yet for this article.
December 3, 2016: Brain & Development
https://www.readbyqxmd.com/read/27919587/new-year-s-greetings-a-happy-new-year-2017
#4
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
December 2, 2016: Brain & Development
https://www.readbyqxmd.com/read/27916450/dramatic-response-after-functional-hemispherectomy-in-a-patient-with-epileptic-encephalopathy-carrying-a-de-novo-col4a1-mutation
#5
Naomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, Yuko Sato, Yuki Kubota, Tomoko Kobayashi, Tojo Nakayama, Kazuhiro Haginoya, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications...
December 1, 2016: Brain & Development
https://www.readbyqxmd.com/read/27916449/a-case-of-severe-movement-disorder-with-gnao1-mutation-responsive-to-topiramate
#6
Saori Sakamoto, Yukifumi Monden, Ryoko Fukai, Noriko Miyake, Hiroshi Saito, Akihiko Miyauchi, Ayumi Matsumoto, Masako Nagashima, Hitoshi Osaka, Naomichi Matsumoto, Takanori Yamagata
We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated Ca(2+) channels...
December 1, 2016: Brain & Development
https://www.readbyqxmd.com/read/27914863/epilepsia-partialis-continua-in-melas-leigh-overlap-syndrome
#7
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
November 30, 2016: Brain & Development
https://www.readbyqxmd.com/read/27903419/short-term-efficacy-and-tolerability-of-methylphenidate-in-children-with-traumatic-brain-injury-and-attention-problems
#8
Ozalp Ekinci, Meltem Çobanoğulları Direk, Serkan Gunes, Halenur Teke, Nuran Ekinci, Fatma Yıldırım, Çetin Okuyaz
PURPOSE: This study aims to investigate the short-term efficacy and tolerability of immediate-release methylphenidate (IR-MPH) in children with a history of traumatic brain injury (TBI). METHODS: Twenty children with TBI (mean age: 12.7±3.1years) who had clinically significant attention deficit and/or hyperactivity-impulsivity symptoms and twenty children with primary Attention Deficit Hyperactivity Disorder (ADHD) (mean age: 12.3±3.05years) were included. Study measures, which included the Turgay DSM-IV based ADHD rating Scale (T-DSM-IV-S), Conners' Parent Rating Scale (CPRS), Conners' Teacher Rating Scale (CTRS-R) and Clinical Global Impression-Improvement Scale (CGI-I), were completed at the baseline for both of the groups...
November 28, 2016: Brain & Development
https://www.readbyqxmd.com/read/27884548/infantile-neuroaxonal-dystrophy-and-pla2g6-associated-neurodegeneration-an-update-for-the-diagnosis
#9
REVIEW
Alessandro Iodice, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Gianna Bertani, Patrizia Bergonzini, Francesco Pisani, Carlo Fusco
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. Phenotypic spectrum continues to evolve and genotype-phenotype correlations are currently limited...
November 21, 2016: Brain & Development
https://www.readbyqxmd.com/read/27876398/dropped-head-congenital-muscular-dystrophy-caused-by-de-novo-mutations-in-lmna
#10
Pakize Karaoglu, Nicolas Quizon, Matthias Pergande, Haicui Wang, Ayşe Ipek Polat, Ayca Ersen, Erdener Özer, Lena Willkomm, Semra Hiz Kurul, Raúl Heredia, Uluç Yis, Duygu Selcen, Sebahattin Çirak
BACKGROUND: Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. CASE DESCRIPTION: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27876397/efficacy-of-sodium-channel-blockers-in-scn2a-early-infantile-epileptic-encephalopathy
#11
Robertino Dilena, Pasquale Striano, Elena Gennaro, Laura Bassi, Sara Olivotto, Laura Tadini, Fabio Mosca, Sergio Barbieri, Federico Zara, Monica Fumagalli
BACKGROUND: Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction. PATIENT DESCRIPTION: A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27876396/anatomical-animal-and-cellular-evidence-for-zika-induced-pathogenesis-of-fetal-microcephaly
#12
REVIEW
Jing-Zhang Wang, Xin-Hua Guo, Dian-Guo Xu
Several recent articles published by Brain and Development in 2016 demonstrated some rare, but innovative, genetic mechanisms for microcephaly. This concise mini-review presented another novel pathogenic mechanism for microcephaly, which has actually been a worldwide medical challenge since the World Health Organization (WHO) defined the outbreak of the Zika virus (ZIKV) as an International Public Health Emergency on 1 Feb, 2016. As a recent noteworthy clinical phenomenon, the ZIKV outbreak was accompanied by a dramatically increased number of microcephalus fetuses...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27876395/massive-lamotrigine-poisoning-a-case-report
#13
Salvatore Grosso, Silvia Ferranti, Carla Gaggiano, Elisabetta Grande, Barbara Loi, Rosanna Di Bartolo
Lamotrigine (LTG) represents the most commonly prescribed of the so-called new generation antiepileptic drugs. We describe a child who was admitted to the emergency room because of generalized tonic-clonic status epilepticus followed by a complex neurological picture with hyperkinesia and acute ataxia as a result of a LTG intoxication. The experience on acute LTG intoxication is very limited in pediatrics. The present case provides information on the clinical picture related to LTG overdose and confirms that drug intoxications should be considered in the differential diagnosis strategy when severe and polymorphic neurological symptoms occur acutely...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27876394/postnatal-irradiation-induced-hippocampal-neuropathology-cognitive-impairment-and-aging
#14
REVIEW
Feng Ru Tang, Weng Keong Loke, Boo Cheong Khoo
Irradiation of the brain in early human life may set abnormal developmental events into motion that last a lifetime, leading to a poor quality of life for affected individuals. While the effect of irradiation at different early developmental stages on the late human life has not been investigated systematically, animal experimental studies suggest that acute postnatal irradiation with ⩾0.1Gy may significantly reduce neurogenesis in the dentate gyrus and endotheliogenesis in cerebral vessels and induce cognitive impairment and aging...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27865668/a-small-pons-as-a-characteristic-finding-in-down-syndrome-a-quantitative-mri-study
#15
Yuta Fujii, Noriko Aida, Tetsu Niwa, Mikako Enokizono, Kumiko Nozawa, Tomio Inoue
BACKGROUND: Down syndrome (DS) is the most common chromosomal aberration, but the characteristics of the brainstem component in this condition during childhood (from newborn to preteen stages) have not been clarified. OBJECTIVE: To evaluate the morphological features of the brainstem in DS on magnetic resonance imaging (MRI). MATERIALS AND METHODS: MRIs for 32 children with DS (16 boys and girls each; age range, 0-11years) without major brain insults, and 32 age-matched controls (16 boys and girls each) were retrospectively analyzed...
November 16, 2016: Brain & Development
https://www.readbyqxmd.com/read/27856098/gastric-perforation-and-critical-illness-polyneuropathy-after-steroid-treatment-in-a-patient-with-encephalitis-encephalopathy-with-transient-splenial-lesion
#16
Mitsuru Ikeno, Shinpei Abe, Hirokazu Kurahashi, Michihiko Takasu, Toshiaki Shimizu, Akihisa Okumura
The outcome of mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is favorable whether or not specific treatment is performed. We report a patient with MERS treated with methylprednisolone, complicated by gastric perforation followed by critical illness polyneuropathy. The patient was a 14-year-old male with mildly impaired consciousness and hyponatremia who was treated with methylprednisolone pulse therapy. High fever appeared after methylprednisolone pulse therapy and free air was recognized on an abdomen roentgenogram...
November 14, 2016: Brain & Development
https://www.readbyqxmd.com/read/27847129/a-ten-year-follow-up-cohort-study-of-childhood-epilepsy-changes-in-epilepsy-diagnosis-with-age
#17
Yoshiyuki Hanaoka, Harumi Yoshinaga, Katsuhiro Kobayashi
OBJECTIVE: To elucidate all of the characteristics of childhood epilepsy, we performed a long-term follow-up study on the patients who visited Okayama University Hospital. SUBJECTS AND METHODS: We retrospectively investigated the patients who were involved in the previous epidemiological study and visited Okayama University Hospital for a period of 10years after December 31, 1999. RESULTS: Overall, there were 350 patients' medical records that were evaluated, and 258 patients with complete clinical information available for a 10-year period were enrolled...
November 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27843044/a-magnetic-resonance-imaging-finding-in-children-with-cerebral-palsy-symmetrical-central-tegmental-tract-hyperintensity
#18
Betul Emine Derinkuyu, Evrim Ozmen, Havva Akmaz-Unlu, Namik Kemal Altinbas, Esra Gurkas, Oznur Boyunaga
BACKGROUND: Central tegmental tract is an extrapyramidal tract between red nucleus and inferior olivary nucleus which is located in the tegmentum pontis bilaterally and symmetrically. The etiology of the presence of central tegmental tract hyperintensity on MRI is unclear. PURPOSE: In this study our aim is to evaluate the frequency of central tegmental tract lesions in patients with cerebral palsy and control group, as well as to determine whether there is an association between central tegmental tract lesions and cerebral palsy types...
November 11, 2016: Brain & Development
https://www.readbyqxmd.com/read/27843043/hyperekplexia-report-on-phenotype-and-genotype-of-16-jordanian-patients
#19
Amira Masri, Seo-Kyung Chung, Mark I Rees
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. OBJECTIVE: To describe the clinical and genetic features of hyperekplexia in Jordanian patients. METHODS: This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015...
November 11, 2016: Brain & Development
https://www.readbyqxmd.com/read/27839927/developmental-changes-in-autonomic-emotional-response-during-an-executive-functional-task-a-pupillometric-study-during-wisconsin-card-sorting-test
#20
Tetsuo Ohyama, Yoshimi Kaga, Yusuke Goto, Kakuro Aoyagi, Sayaka Ishii, Hideaki Kanemura, Kanji Sugita, Masao Aihara
OBJECTIVE: The autonomic nervous system has a deep relationship with the cognitive network when performing cognitive tasks. We hypothesize that autonomic emotional responses can affect cognitive function, especially executive function. The aim of this study was to clarify the involvement of the autonomic system during an executive functional task via developmental changes assessed using pupillometry. SUBJECTS AND METHODS: Subjects were 16 healthy children and 9 healthy adults...
November 10, 2016: Brain & Development
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