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Brain & Development

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https://www.readbyqxmd.com/read/28214048/psychosocial-and-behavioral-functioning-and-their-relationship-to-seizure-timing-in-children-with-benign-epilepsy-with-centrotemporal-spikes
#1
Gonca Bektaş, Uğur Tekin, Edibe Pembegül Yıldız, Tuğçe Aksu Uzunhan, Burak Tatlı, Nur Aydınlı, Mine Çalışkan, Meral Özmen
BACKGROUND: Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined. PURPOSE: We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS. METHODS: Consecutive patients with BECTS were recruited from the pediatric neurology outpatient clinic between May 2015 and May 2016...
February 14, 2017: Brain & Development
https://www.readbyqxmd.com/read/28202262/cognitive-and-behavioral-effects-of-new-antiepileptic-drugs-in-pediatric-epilepsy
#2
REVIEW
Romina Moavero, Marta Elena Santarone, Cinzia Galasso, Paolo Curatolo
BACKGROUND: In pediatric epilepsy, neurodevelopmental comorbidities could be sometimes even more disabling than seizures themselves, therefore it is crucial for the clinicians to understand how to benefit these children, and to choose the proper antiepileptic drug for the treatment of epilepsy associated to a specific neurodevelopmental disorder. Aim of this paper is to discuss the potential impact on cognition and behavior of new and newest AEDs and to guide the choice of the clinicians for a targeted use in epilepsy associated with specific neurodevelopmental disorders...
February 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28202261/hyperprolinemia-as-a-clue-in-the-diagnosis-of-a-patient-with-psychiatric-manifestations
#3
Marco Duarte, Joana Afonso, Ana Moreira, Diana Antunes, Cristina Ferreira, Hildeberto Correia, Margarida Marques, Sílvia Sequeira
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment...
February 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28196729/delayed-expansion-of-an-intracranial-cyst-induced-by-ventriculoperitoneal-shunt-in-a-patient-with-chiari-malformation-type-2
#4
Yoshinori Maki, Tsuyoshi Ohta, Hirokazu Onishi, Naoki Fukui, Masanori Morimoto
A male neonate was referred to our hospital for the treatment of myelomeningocele and hydrocephalus related to Chiari malformation type 2. After the placement of ventriculoperitoneal (VP) shunt for hydrocephalus, an intracranial cyst, which was asymptomatic at first, expanded and caused clinical symptoms due to increased intracranial pressure. The expansion of the cyst was confirmed dominantly in the right lateral ventricle where the VP shunt was inserted. Intraoperative findings through a neuroendoscope suggested that the expanded cyst was an isolated lesion...
February 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28190537/further-evidence-that-d-glycerate-kinase-gk-deficiency-is-a-benign-disorder
#5
Attia Kalim, Patricia Fitzsimons, Claudia Till, Malkanthi Fernando, Philip Mayne, Jorn Oliver Sass, Ellen Crushell
d-Glyceric aciduria is caused by deficiency in d-glycerate kinase (GK) due to recessive mutations in the GLYCTK gene. GK catalyzes the conversion of d-glycerate to 2-phosphoglycerate which is an intermediary reaction in the catabolism of serine and fructose. Deficiency of GK leads to accumulation of d-glycerate, which may be detected in urine organic acid analysis. Debate exists as to whether this is a benign or disease-causing disorder as the reported phenotypes vary significantly. We report two siblings from a consanguineous Pakistani family...
February 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28189272/alice-in-wonderland-syndrome-a-real-life-version-of-lewis-carroll-s-novel
#6
REVIEW
Patrick O'Toole, Edward Justin Modestino
Alice in Wonderland Syndrome was originally coined by Dr. John Todd in 1955. The syndrome is named after the sensations experienced by the character Alice in Lewis Carroll's novel Alice's Adventures in Wonderland. Alice in Wonderland Syndrome consists of metamorphopsia (seeing something in a distorted fashion), bizarre distortions of their body image, and bizarre perceptual distortions of form, size, movement or color. Additionally, patients with Alice in Wonderland Syndrome can experience auditory hallucinations and changes in their perception of time...
February 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28159458/relationship-between-the-change-of-language-symptoms-and-the-change-of-regional-cerebral-blood-flow-in-the-recovery-process-of-two-children-with-acquired-aphasia
#7
Junko Kozuka, Akira Uno, Hiroshi Matsuda, Yoshiya Toyoshima, Shin-Ichiro Hamano
OBJECTIVE: This study aimed to investigate the relationship between the change of language symptoms and the change of regional cerebral blood flow (rCBF) in the recovery process of two children with acquired aphasia caused by infarctions from Moyamoya disease with an onset age of 8years. METHODS: We compared the results for the Standard Language Test of Aphasia (SLTA) with rCBF changes in 7 language regions in the left hemisphere and their homologous regions in the right hemisphere at 4 time points from 3weeks for up to 5years after the onset of aphasia, while controlling for the effect of age...
January 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28143689/reversible-brain-atrophy-in-glutaric-aciduria-type-1
#8
Yurika Numata-Uematsu, Osamu Sakamoto, Yosuke Kakisaka, Yukimune Okubo, Yoshitsugu Oikawa, Natsuko Arai-Ichinoi, Shigeo Kure, Mitsugu Uematsu
Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features an acute encephalopathic crisis developed in early childhood, causing irreversible striatal injury. Recently, tandem mass spectrometry of spots of dried blood has allowed pre-symptomatic detection of GA1 in newborns. Early treatment can prevent irreversible neurological injury. We report the case of a girl with GA1 who exhibited a characteristic reversible change upon brain magnetic resonance imaging (MRI)...
January 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28117190/childhood-leukodystrophies-a-literature-review-of-updates-on-new-definitions-classification-diagnostic-approach-and-management
#9
REVIEW
Mahmoud Reza Ashrafi, Ali Reza Tavasoli
Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one hundred disorders. During the last three decades, the basic concepts and definitions, classification, diagnostic approach and medical management of these disorders much have changed. Pattern recognition based on brain magnetic resonance imaging (MRI), has played an important role in this process...
January 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28094161/disinhibition-in-children-with-attention-deficit-hyperactivity-disorder-changes-in-oxy-hb-on-near-infrared-spectroscopy-during-rock-paper-scissors-task
#10
Sayaka Ishii, Yoshimi Kaga, Tomoko Tando, Kakuro Aoyagi, Fumikazu Sano, Hideaki Kanemura, Kanji Sugita, Masao Aihara
OBJECTIVE: Attention-deficit/hyperactivity disorder (AD/HD) is a common developmental disorder. Many reports have suggested that symptoms of AD/HD are related to frontal lobe dysfunctions, particularly disinhibition. However, measuring neurological findings with biomarkers during frontal functional tasks has sometimes been difficult in children with AD/HD. This study aimed to investigate frontal inhibitory function objectively in children with AD/HD during "rock, paper, scissors" (RPS) tasks, as a familiar game for Japanese children, using near-infrared spectroscopy (NIRS)...
January 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28094160/a-case-of-generalized-lymphatic-anomaly-causing-skull-base-leakage-and-bacterial-meningitis
#11
Kenichi Suga, Aya Goji, Miki Inoue, Masami Kawahito, Masako Taki, Kazuhiro Mori
Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly had been diagnosed by pericardial biopsy. Petrous bone tumor had been followed up without surgery. At the age of seven he presented with fever and disturbance of consciousness, and bacterial meningitis due to Streptococcus pneumoniae was diagnosed...
January 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28089344/heparan-sulfate-storage-in-the-cardiac-conduction-system-triggers-atrioventricular-block
#12
Rie Kato, Hiroaki Miyahara, Tatsuya Kawano, Atsuko Matsuzuka, Kimiko Noda, Tatsuro Izumi
OBJECTIVE: To elucidate the novel biological functions of heparan sulfate (HS) by clinic-pathologically studying a patient with paroxysmal atrioventricular (AV) block. PATIENT: A long-surviving male patient with Sanfilippo syndrome type A presented with paroxysmal AV block at age 33years. He then survived another 2.5years after the onset of paroxysmal AV block and pacemaker implantation. METHODS AND RESULTS: His cardiac histopathological examination at autopsy showed HS storage in the cardiac conduction system (CCS), especially in the atrioventricular node (AVN)-His bundle branches...
January 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28089122/reply-to-the-remarks-about-a-pediatric-patient-of-hemorrhagic-acute-transverse-myelitis
#13
LETTER
Masataka Fukuoka, Ichiro Kuki, Hisashi Kawawaki, Kiyohiro Kim, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Shin Okazaki
No abstract text is available yet for this article.
January 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28089121/remarks-about-a-pediatric-patient-of-hemorrhagic-acute-transverse-myelitis
#14
LETTER
Daniele Coraci, Valter Santilli, Silvia Giovannini, Luca Padua
No abstract text is available yet for this article.
January 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28087085/bilateral-blepharoptosis-in-a-juvenile
#15
Hiroshi Yamaguchi, Tsukasa Tanaka, Daisaku Toyoshima, Azusa Maruyama, Akihiro Ichinose, Hiroaki Nagase
In adults, aponeurotic blepharoptosis is the most common type of ptosis. However, myogenic ptosis is the predominant cause, and bilateral aponeurotic ptosis is very rare among children. Here, we report a previously healthy 10-year-old Japanese girl with bilateral aponeurotic blepharoptosis who presented initially with bilateral blepharoptosis for about 4years. This case report shows that history taking and careful observation of the patient lead to an accurate diagnosis, and aponeurotic ptosis should be considered in the differential diagnosis of bilateral blepharoptosis among children...
January 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/28063749/symmetrical-thalamic-calcification-a-trio-whole-exome-sequencing-negative-series
#16
Kathleen Mary Gorman, John James Aird, Judith Conroy, Deirdre Devaney, Michael Farrell, Mary Dolores King
Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis...
January 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28063748/aspartylglucosaminuria-caused-by-a-novel-homozygous-mutation-in-the-aga-gene-was-identified-by-an-exome-first-approach-in-a-patient-from-japan
#17
Toshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, Ryuichi Mashima, Eri Sakai, Torayuki Okuyama
BACKGROUND: Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. CASE REPORT: We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6years...
January 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28057397/neural-alterations-in-adhd-children-as-indicated-by-voxel-based-cortical-thickness-and-morphometry-analysis
#18
Uttam Kumar, Amit Arya, Vivek Agarwal
PURPOSE: Neuroimaging studies provide vital information related to the neurobiology of ADHD, but there still exists a wide gap in relevant information. The present study aimed to elucidate the neuroanatomical alteration in Attention deficit hyperactivity disorder (ADHD) children/adolescents. METHODS: Voxel-based cortical thickness (VBCT) and voxel-based morphometry (VBM) was performed to examine neuroanatomic distinctions in 18 children/adolescents aged 7.5-13years diagnosed with DSM-IV TR as ADHD (non-medicated)...
January 2, 2017: Brain & Development
https://www.readbyqxmd.com/read/28040316/ovarian-teratoma-development-after-anti-nmda-receptor-encephalitis-treatment
#19
Taku Omata, Kazuo Kodama, Yoshimi Watanabe, Yukiko Iida, Yoshiaki Furusawa, Akiko Takashima, Yukitoshi Takahashi, Hiroshi Sakuma, Keiko Tanaka, Katsunori Fujii, Naoki Shimojo
BACKGROUND: Anti-NMDA-R receptor encephalitis occurs predominantly in younger women and is often comorbid with ovarian teratoma, a feature that is often absent in children. Here, we report our experience with two pediatric patients, in whom no tumors were present during treatment for encephalitis, but in whom ovarian teratomas developed without encephalitis relapse after treatment was completed. CASES: Patient 1 was a 14-year-old girl who was diagnosed due to characteristic symptoms and anti-NMDA-R antibody...
December 28, 2016: Brain & Development
https://www.readbyqxmd.com/read/28010956/central-tegmentum-tract-hyperintensities-in-pediatric-neurological-patients-incidence-or-coincidence
#20
Uğur Işık, Alp Dinçer
AIM: The central tegmental tract hyperintensities (CTTH) have been found in many different pediatric neurological conditions. There is only scarce data about the value of this radiological phenomenon. In this study we aimed to show the neurological conditions associated with this radiological finding. MATERIALS AND METHODS: We performed a retrospective analysis of all pediatric brain MRI's between 2013 and 2015. After finding those patients with CTTH, we evaluated them in the pediatric neurology clinic...
December 20, 2016: Brain & Development
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