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Brain & Development

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https://www.readbyqxmd.com/read/28533076/letter-to-the-editor-a-case-of-guillain-barr%C3%A3-syndrome-with-meningeal-irritation
#1
LETTER
Ibtihel Rebai, Nedia Ben Achour, Emna El Mabrouk, Ichraf Kraoua, Ilhem Ben Youssef-Turki
No abstract text is available yet for this article.
May 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/28527815/neuroimaging-and-neuropathological-characteristics-of-cerebellar-injury-in-extremely-low-birth-weight-infants
#2
Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Sachio Takashima
OBJECTIVE: To determine the morphological characteristics and pathogenic factors of cerebellar injury in extremely low birth weight infants (ELBWI). SUBJECTS AND METHODS: Neuroimaging examination was performed on 17 eligible surviving ELBWI. Their MR images were assessed and classified its pattern of cerebellar injuries. Brain pathology was examined on 15 patients, who isolated this neuroimaging subjects. The trend of brain pathologies was revealed. RESULTS: Four types of morphological pattern were recognized: (i) the absence of major portions in the cerebellum (6/17 cases); (ii) focal cerebellar tissue loss (2/17); (iii) unilateral cerebellar atrophy/hypoplasia (3/17); (iv) small cerebellum with entrapped fourth ventricle (6/17)...
May 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#3
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28522224/melas-leigh-overlap-syndrome-due-to-the-nd6-mutation-m-10158t-c
#4
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28501474/a-case-of-mumps-related-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#5
Kyoko Hazama, Takashi Shiihara, Hiroyuki Tsukagoshi, Shunji Hasegawa, Yuri Dowa, Mio Watanabe
BACKGROUND: Mumps is a common childhood viral disease characterized by fever and swelling of the parotid gland. The prognosis is generally good, although some complications, such as encephalitis (0.1%), exist. Acute encephalopathy with biphasic seizures and late reduced diffusion is the most common type of acute encephalopathy. However, this type of encephalopathy has not been reported in association with mumps infection. PATIENT: A previously healthy 3-year-old Japanese boy had a brief convulsion after fever for 3days, and then had conscious disturbance and parotitis...
May 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/28501473/electrical-status-epilepticus-during-sleep-in-mowat-wilson-syndrome
#6
Paolo Bonanni, Susanna Negrin, Anna Volzone, Nicoletta Zanotta, Roberta Epifanio, Claudio Zucca, Elisa Osanni, Elisa Petacchi, Franco Fabbro
AIM: Mowat-Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70-75% of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the severe intellectual disability (ID) and hyperactivity of these Patients. Our purpose was to verify the hypothesis that MWS Patients might have electrical status epilepticus in slow wave sleep (ESES pattern). METHODS: A retrospective analysis of anamnestic and electrographic data was performed on 7 consecutive MWS Patients followed between 2007 and 2016...
May 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/28495303/the-characteristics-of-salivary-pepsin-in-patients-with-severe-motor-and-intellectual-disabilities
#7
Naoki Hashizume, Suguru Fukahori, Kimio Asagiri, Shinji Ishii, Nobuyuki Saikusa, Naruki Higashidate, Motomu Yoshida, Daisuke Masui, Saki Sakamoto, Yoshiaki Tanaka, Minoru Yagi, Yushiro Yamashita
PURPOSE: The aim of the present study was to determine the utility of measuring the salivary pepsin level (SPL) as an objective assessment of gastroesophageal reflux disease (GERD) in severe motor and intellectual disabilities (SMID) patients. SUBJECTS AND METHODS: This prospective study included 26 SMID patients who underwent simultaneous 24-h multichannel intraluminal impedance pH measurement (pH/MII) and SPL evaluation. The enrolled patients were divided into GERD (+) or GERD (-) groups according to the pH/MII findings...
May 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28487114/structural-brain-network-analysis-of-children-with-localization-related-epilepsy
#8
Kanako Takeda, Hiroshi Matsuda, Yusaku Miyamoto, Hitoshi Yamamoto
INTRODUCTION: Epilepsy is considered to arise from dysfunction in neural networks. Recent advances in neuroimaging and its analysis have made it possible to investigate both functional and structural connectivity in the brain. The aim of this study was to elucidate alterations in the structural connectivity in children with localization-related epilepsy using the mathematical method of graph theoretical analysis. METHODOLOGY: Fifteen children with localization-related epilepsy (8 female subjects; mean age, 8...
May 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/28477981/early-hypoperfusion-on-arterial-spin-labeling-may-be-a-diagnostic-marker-for-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#9
LETTER
Haruna Yokoyama, Shimpei Baba, Jun Oyama, Kengo Moriyama, Tomohiro Morio
No abstract text is available yet for this article.
May 3, 2017: Brain & Development
https://www.readbyqxmd.com/read/28457518/systematic-review-of-mri-findings-in-children-with-developmental-delay-or-cognitive-impairment
#10
REVIEW
Kara Murias, Andrea Moir, Kenneth Alexis Myers, Irene Liu, Xing-Chang Wei
AIM: To summarize the reported rates of magnetic resonance imaging (MRI) abnormalities in children with isolated global developmental delay (GDD) or intellectual disability (ID). METHOD: A literature search was conducted using electronic databases for studies reporting the rate of MRI abnormalities in children with clinically diagnosed ID or GDD and no other neurological signs, symptoms, or previously determined aetiology. All investigations with participants from birth to 18years were considered...
April 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/28450095/reply-to-early-hypoperfusion-on-arterial-spin-labelling-may-be-a-diagnostic-marker-for-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#11
Keita Kuya, Shinya Fujii, Toshihide Ogawa
No abstract text is available yet for this article.
April 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28450094/adverse-effects-of-prenatal-and-early-postnatal-exposure-to-antiepileptic-drugs-validation-from-clinical-and-basic-researches
#12
REVIEW
Kimino Fujimura, Takayuki Mitsuhashi, Takao Takahashi
Epilepsy requires the long-term administration of antiepileptic drugs (AEDs), and thus, we must consider the effects of prenatal AED exposure on fetus when treating female patients of child bearing age. Large prospective clinical researches in humans have demonstrated the following: (1) prenatal exposure to valproic acid (VPA), carbamazepine, and phenobarbital increases the risk of congenital malformations in a dose-dependent manner and (2) prenatal exposure to VPA increases the risk of higher brain function impairments including intellectual disabilities and autistic spectrum disorders in the offspring...
April 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28438368/early-infantile-presentation-of-3-methylglutaconic-aciduria-type-1-with-a-novel-mutation-in-auh-gene-a-case-report-and-literature-review
#13
Ali Reza Tavasoli, Reza Shervin Badv, Johannes Zschocke, Mahmood Reza Ashrafi, Parastoo Rostami
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until adulthood. Here we report a 3years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and blood acylcarnitine showed high level of 3-methylglutacoic acid, 3-hydroxyisovaleric acid and increased level of 3-hydroxyisovalerylcarnitine respectively...
April 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/28438367/the-effect-of-dietary-supplements-on-clinical-aspects-of-autism-spectrum-disorder-a-systematic-review-of-the-literature
#14
REVIEW
Maria Gogou, George Kolios
BACKGROUND: Autism spectrum disorder is associated with significant social and financial burden and no definite treatment for this entity has been identified, yet. In recent years there has been an increasing interest in the use of dietary interventions as a complementary therapeutic option for these patients. OBJECTIVE: The aim of this systematic review is to provide high evidence level literature data about the effect of dietary supplements on clinical aspects of children with autism...
April 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/28434769/kleine-levin-syndrome-an-update-and-mini-review
#15
REVIEW
Natan Gadoth, Arie Oksenberg
Since 1962, when Critchley and Hoffman coined the term Kleine-Levin Syndrome (KLS) for the triad of hypersomnia, excessive eating and "often abnormal behavior" which they have observed in 11 adolescent boys, the number of patients recognized with this rare syndrome expanded, the spectrum of the clinical presentation, disease course, prognosis, gender specificity and the presence of familial cases were established. However, in spite of the progress made in neuroscience, the search for the cause, neuroanatomy, pathophysiology and drug treatment of KLS is still ongoing...
April 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28434768/restless-legs-syndrome-in-adolescents
#16
LETTER
Karolina Pienczk-Reclawowicz, Ewa Pilarska, Jaroslaw Slawek
No abstract text is available yet for this article.
April 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28434767/extrarenal-rhabdoid-tumor-presented-with-an-immobile-arm-in-a-one-year-old-boy
#17
Chi-Ting Chung, Yen-Lin Liu, Chien-Jui Cheng, Kevin Li-Chun Hsieh, Min-Lan Tsai, Tai-Tong Wong
Infants with an immobile arm may be easily overlooked in primary care settings. Differential diagnoses include injuries, infections, neuropathies, ischemia and rarely, neoplasms. We report the case of a one-year-old boy with weakness in his left arm after minor trauma with a diagnosis of brachial plexus palsy initially. After rehabilitation for 2months, his weakness progressed to unsteady gait and quadriparesis. MRI revealed a huge solid tumor in the left supraclavicular fossa, which also involved the left brachial plexus, upper thoracic cavity, and left paravertebral space with invasion into the spinal canal...
April 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28433581/therapeutic-burst-suppression-coma-in-pediatric-febrile-refractory-status-epilepticus
#18
Jainn-Jim Lin, Cheng-Che Chou, Shih-Yun Lan, Hsiang-Ju Hsiao, Yu Wang, Oi-Wa Chan, Shao-Hsuan Hsia, Huei-Shyong Wang, Kuang-Lin Lin
BACKGROUND: Evidence for the beneficial effect of therapeutic burst-suppression coma in pediatric patients with febrile refractory status epilepticus is limited, and the clinical outcomes of this treatment strategy are largely unknown. Therefore, the aim of this study was to explore the outcomes of therapeutic burst-suppression coma in a series of children with febrile refractory status epilepticus. METHODS: We retrospectively reviewed consecutive pediatric patients with febrile refractory status epilepticus admitted to our pediatric intensive care unit between January 2000 and December 2013...
April 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/28431773/atypical-moyamoya-syndrome-with-brain-calcification-and-stenosis-of-abdominal-aorta-and-renal-arteries
#19
Hideki Uchikawa, Katsunori Fujii, Mayuko Fujita, Tomoko Okunushi, Naoki Shimojo
Moyamoya syndrome is a progressive cerebrovascular disease that is characterized by stenosis of the terminal portion of the internal carotid artery and its main branches, in combination with an accompanying disease. We herein describe an 8-year-old boy exhibiting transient loss of consciousness, who had recurrent seizures in infancy with progressive brain calcification. On admission, he was alert but magnetic resonance angiography showed bilateral stenosis of the whole internal carotid artery and proliferation of vascular collaterals, and brain CT revealed calcification on bilateral putamen...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28431772/low-glycemic-index-treatment-in-patients-with-drug-resistant-epilepsy
#20
Se Hee Kim, Hoon-Chul Kang, Eun Joo Lee, Joon Soo Lee, Heung Dong Kim
OBJECTIVE: Low glycemic index treatment (LGIT) is a newly developed dietary therapeutic option for epilepsy that is less restrictive than the ketogenic diet (KD). Our objective was to determine the efficacy and tolerability of LGIT. METHODS: From March 2014 to February 2015, 36 patients received LGIT at Severance Children's Hospital. One-year seizure outcomes and side effects were evaluated. RESULTS: A total of 36 patients were assessed. Fourteen were female...
April 18, 2017: Brain & Development
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