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Brain & Development

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28007393/fournier-s-gangrene-during-acth-therapy
#12
Shingo Numoto, Hirokazu Kurahashi, Yoshiteru Azuma, Atsushi Numaguchi, Kozaburo Nakahara, Takahisa Tainaka, Michihiko Takasu, Kiyoshi Yamakawa, Nozomi Nago, Taichiro Muto, Yoshiro Kitagawa, Akihisa Okumura
Fournier's gangrene is an infectious necrotizing fasciitis of the perineal, genital, or perianal regions and is uncommon in children. Adrenocorticotropic hormone (ACTH) is effective for the treatment of infantile spasms; however, suppression of immune function is one of the major adverse effects of this approach. We encountered a 2-month-old boy with infantile spasms that had been treated with ACTH and had developed complicating Fournier's gangrene. Strangulation of a right inguinal hernia was observed after ACTH treatment...
December 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27993427/reconsideration-of-the-diagnosis-and-treatment-of-childhood-migraine-a-practical-review-of-clinical-experiences
#13
Yoshiaki Saito, Gaku Yamanaka, Hideki Shimomura, Kazuhiro Shiraishi, Tomoyuki Nakazawa, Fumihide Kato, Yuko Shimizu-Motohashi, Masayuki Sasaki, Yoshihiro Maegaki
OBJECTIVE: To provide insight into the wide spectrum of migraine during childhood to establish practical and comprehensive treatment strategies. BACKGROUND: Although recent studies have confirmed the effect of anti-migraine agents in childhood headaches fulfilling the criteria of migraine without aura, there have been no studies regarding the efficacy of these drugs in childhood migraine without aura not filling the diagnostic criteria. METHODS: In total, 154 patients with a clinical diagnosis of migraine, with onset of repetitive headaches at the age of ⩽15years, were retrospectively included from clinics in seven tertiary medical centers...
December 16, 2016: Brain & Development
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#14
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
#15
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
#16
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/27916450/dramatic-response-after-functional-hemispherectomy-in-a-patient-with-epileptic-encephalopathy-carrying-a-de-novo-col4a1-mutation
#17
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
#18
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
#19
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
#20
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
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