journal
MENU ▼
Read by QxMD icon Read
search

Brain & Development

journal
https://www.readbyqxmd.com/read/29307466/scalp-recorded-high-frequency-oscillations-in-childhood-epileptic-encephalopathy-with-continuous-spike-and-wave-during-sleep-with-different-etiologies
#1
Pan Gong, Jiao Xue, Ping Qian, Haipo Yang, Xiaoyan Liu, Lixin Cai, Kaigui Bian, Zhixian Yang
OBJECTIVE: To investigate high-frequency oscillations (HFOs) in epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) with different etiologies. METHODS: Twenty-one CSWS patients treated with methylprednisolone were divided into structural group and genetic/unknown group. Comparisons were made between the two etiological groups: selected clinical variables including gender, age parameters, seizure frequencies and antiepileptic drugs; distribution of HFOs in pre-methylprednisolone electroencephalography (EEG) and percentage changes of HFOs and spikes after methylprednisolone treatment...
January 4, 2018: Brain & Development
https://www.readbyqxmd.com/read/29306558/high-dose-phenobarbitone-coma-in-pediatric-refractory-status-epilepticus-a-retrospective-case-record-analysis-a-proposed-protocol-and-review-of-literature
#2
Sheffali Gulati, Vishal Sondhi, Biswaroop Chakrabarty, Prashant Jauhari, Rakesh Lodha, Jhuma Sankar
BACKGROUND: Ongoing refractory status epilepticus is associated with significant morbidity and mortality. Therapeutic coma induction with midazolam, thiopentone, phenobarbitone or propofol is indicated when conventional antiepileptics fail to abort seizure. Of these, the most extensively studied is midazolam. Amongst the remaining three, phenobarbitone has the most favourable pharmacological profile, but has not been studied adequately, more so in the pediatric age group. The current retrospective case records analysis is an attempt to describe use of phenobarbitone coma in pediatric refractory status epilepticus...
January 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29295803/differential-effects-on-sodium-current-impairments-by-distinct-scn1a-mutations-in-gabaergic-neurons-derived-from-dravet-syndrome-patients
#3
Hyun Woo Kim, Zhejiu Quan, Young-Beom Kim, Eunji Cheong, Heung Dong Kim, Minjung Cho, Jiho Jang, Young Rang You, Joon Soo Lee, Ji Hun Kim, Yang In Kim, Dae-Sung Kim, Hoon-Chul Kang
BACKGROUND: We investigated how two distinct mutations in SCN1A differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients. MATERIALS AND METHODS: We established induced pluripotent stem cells from two DS patients with different mutations in SCN1A and subsequently differentiated them into forebrain GABAergic neurons. Functionality of differentiated GABAergic neurons was examined by electrophysiological recordings...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29295802/hydrocephalus-in-pyridoxine-dependent-epilepsy-new-case-and-literature-review
#4
Virginia Navarro-Abia, María Soriano-Ramos, Noemí Núñez-Enamorado, Ana Camacho-Salas, Ana Martinez-de Aragón, Elena Martín-Hernández, Rogelio Simón-de Las Heras
INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature. CASE REPORT: Our patient presented with seizures at 13 h of life. Antiepileptic drugs, vitamins and cofactors were required to achieve seizure control...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29295801/prevalence-of-idiopathic-epilepsy-among-school-children-in-gharbia-governorate-egypt
#5
Azza Kamal Alshahawy, Amira Hamed Darwish, Safynaz Elsaid Shalaby, Wegdan Mawlana
BACKGROUND: Epilepsy is one of the most common neurological disorders among children. Data about its prevalence in Egypt is limited. Our aim was to study the prevalence of idiopathic epilepsy among school children in Gharbia governorate, Egypt. SUBJECTS AND METHODS: A Cross-sectional school-based survey study was conducted; a validated screening questionnaire was distributed among urban and rural primary and preparatory school children. Students with suspected epilepsy were subjected to clinical evaluation, Electroencephalogram (EEG), and neuroimaging...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#6
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29289388/l-thyroxine-responsive-drop-attacks-in-childhood-benign-hereditary-chorea-a-case-report
#7
Tadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, Katsunori Fujii, Daiju Oba, Tomozumi Takatani, Mitsuhiro Kato, Naoki Shimojo
Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by non-progressive chorea with early-childhood-onset, congenital hypothyroidism, and neonatal respiratory distress. Although tetrabenazine and levodopa are partly effective for chorea and drop attacks in some patients, there is no standard treatment option. We herein describe a childhood case of BHC that presented with l-thyroxine-responsive drop attacks. A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29277332/cytokine-chemokine-elevation-during-the-transition-phase-from-hsv-encephalitis-to-autoimmune-anti-nmda-receptor-encephalitis
#8
Takanori Omae, Yoshiaki Saito, Hirokazu Tsuchie, Koyo Ohno, Yoshihiro Maegaki, Hiroshi Sakuma
A 3-year-old girl suffered from anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis after resolution of herpes simplex virus encephalitis (HSE). Methylprednisolone pulse and immunoglobulin therapies showed little effect, but the patient completely recovered after six courses of monthly cyclophosphamide pulse therapy and successive maintenance on mycophenolate mofetil for one year. Anti-NMDA receptor antibody in the cerebrospinal fluid (CSF) was minimally detected during the prodromal febrile period and then was seen to be markedly elevated at the onset of second encephalopathy phase...
December 22, 2017: Brain & Development
https://www.readbyqxmd.com/read/29277331/predictive-value-of-eeg-for-febrile-seizure-recurrence
#9
Alberto M Cappellari, Carolina Brizio, Marta B Mazzoni, Giuseppe Bertolozzi, Federica Vianello, Alessia Rocchi, Massimo Belli, Andrea Nossa, Dario Consonni, Gregorio P Milani, Emilio F Fossali
OBJECTIVE: To define the role of the EEG in predicting recurrence of febrile seizures (FS) in children after a first FS. METHODS: Children with a first simple or complex FS who underwent EEG at our hospital were retrospectively enrolled. EEG recordings were classified in three groups: normal, abnormal (slow activity or epileptiform discharges), and pseudo-petit mal discharge (PPMD) pattern. Children were followed-up for at least three years. RESULTS: A total of 126 patients met the entry criteria, and 113 of them completed the follow-up...
December 22, 2017: Brain & Development
https://www.readbyqxmd.com/read/29273277/novel-bicd2-mutation-in-a-japanese-family-with-autosomal-dominant-lower-extremity-predominant-spinal-muscular-atrophy-2
#10
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki
INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. PATIENTS: The proband was the father, aged 30, and the son was aged 3...
December 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29269014/long-term-follow-up-of-an-adult-with-alternating-hemiplegia-of-childhood-and-a-p-gly755ser-mutation-in-the-atp1a3-gene
#11
Tomoshiro Ito, Masashi Narugami, Kiyoshi Egawa, Hiroyuki Yamamoto, Naoko Asahina, Shinobu Kohsaka, Atsushi Ishii, Shinichi Hirose, Hideaki Shiraishi
Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor genotypes for AHC, were recently described as having a mild phenotype, although their long-term outcomes are still unclear due to the lack of long-term follow up. Here, we demonstrate the full clinical course of a 43-year-old female AHC patient with p.G755S mutation. Although her motor dysfunction had been relatively mild into her 30 s, she showed a subsequent severe aggravation of symptoms that left her bedridden, concomitant with a recent recurrence of seizure status...
December 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/29258718/different-mri-defined-tuber-types-in-tuberous-sclerosis-complex-quantitative-evaluation-and-association-with-disease-manifestations
#12
Simonas Jesmanas, Kristina Norvainytė, Rymantė Gleiznienė, Renata Šimoliūnienė, Milda Endzinienė
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. AIMS: To quantitatively evaluate different MRI-defined tuber types and to explore their relationships with major disease manifestations in patients with tuberous sclerosis complex...
December 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/29254829/a-severe-female-case-of-arthrogryposis-multiplex-congenita-with-brain-atrophy-spastic-quadriplegia-and-intellectual-disability-caused-by-zc4h2-mutation
#13
Yukimune Okubo, Wakaba Endo, Takehiko Inui, Sato Suzuki-Muromoto, Takuya Miyabayashi, Noriko Togashi, Ryo Sato, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Shigeo Kure, Kazuhiro Haginoya
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous multiple congenital contractures appearing at birth. Mutations in X-linked zinc-finger gene ZC4H2 were recently identified in some families and individuals with variable forms of AMC associated with dysmorphic signs, intellectual disability and spastic paresis. We present a non-consanguineous Japanese female presenting AMC with severe intellectual disability and spastic quadriplegia who also had progressive brain atrophy. Microarray-based comparative genomic hybridization identified 395 kb microdeletions at Xq11...
December 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/29248444/excitotoxicity-in-encephalopathy-associated-with-stec-o-157-infection
#14
Shigenobu Ishida, Kumi Yasukawa, Mai Koizumi, Katsuhiro Abe, Nozomi Hirai, Takafumi Honda, Hiroshi Sakuma, Hiroko Tada, Jun-Ichi Takanashi
Cytokines play an important role in the pathogenesis of the severe complications of Shiga toxin-producing Escherichia coli (STEC) infection, such as hemolytic uremic syndrome (HUS) and acute encephalopathy. A 3-year-old boy with acute encephalopathy associated with STEC O-157 HUS showed increased levels of IL-6 and IL-10, which normalized after methylprednisolone pulse therapy, and additionally exhibited a transient increase of glutamine on MR spectroscopy. This finding suggests that excitotoxicity, in addition to hypercytokinemia, may play an important role in the pathogenesis of HUS encephalopathy...
December 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/29217415/arima-syndrome-caused-by-cep290-specific-variant-and-accompanied-with-pathological-cilium-clinical-comparison-with-joubert-syndrome-and-its-related-diseases
#15
Masayuki Itoh, Shuhei Ide, Yuji Iwasaki, Takashi Saito, Keishi Narita, Hongmei Dai, Shinji Yamakura, Takeki Furue, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Kiyoshi Matsui, Yu-Ichi Goto, Sen Takeda, Masataka Arima
OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing...
December 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/29198411/epileptic-spasms-secondary-to-acute-cerebral-and-cerebellar-encephalitis
#16
Tohru Okanishi, Ayataka Fujimoto, Risa Hashimoto, Mitsuyo Nishimura, Sotaro Kanai, Miho Ogawa, Takayuki Suzuki, Hirotaka Motoi, Yukitoshi Takahashi, Hideo Enoki
BACKGROUND: Patients with infection-related acute encephalitis sometimes develop epilepsy in the chronic phase of the disease. Patients with postencephalitic epilepsy usually develop partial seizures due to the lesions generated by the encephalitis. We report a case who developed late-onset epileptic spasms after acute cerebral and cerebellar encephalitis. CASE REPORT: A 5-year-old girl showed severe tremor, gait ataxia, partial or generalized tonic-clonic seizures, hyperactivity, and panic attacks after a mild enterocolitis...
November 29, 2017: Brain & Development
https://www.readbyqxmd.com/read/29196072/social-involvement-issues-in-patients-with-becker-muscular-dystrophy-a-questionnaire-survey-of-subjects-from-a-patient-registry
#17
Madoka Mori-Yoshimura, Yukio Mizuno, Sumiko Yoshida, Narihiro Minami, Naohiro Yonemoto, Fumi Takeuchi, Ichizo Nishino, Miho Murata, Shin'ichi Takeda, Yuji Takahashi, En Kimura
BACKGROUND: Little is known about the relationship between Becker Muscular Dystrophy (BMD) and developmental problems, school life, employment, and mental problems. We aimed to clarify whether BMD is a risk factor for developmental disorders, problematic behavior, psychiatric diseases, and other social difficulties in school life and employment. METHODS: Adults with genetically or immunohistochemically confirmed BMD from the Registry of Muscular Dystrophy in Japan (REMUDY) were asked to complete a questionnaire regarding patient history, school life, employment, and mental problems...
November 29, 2017: Brain & Development
https://www.readbyqxmd.com/read/29191363/histopathological-proof-of-the-pathogenicity-of-a-rare-gfap-mutation-in-a-patient-with-flaccid-paraparesis
#18
Florian Brackmann, Roland Coras, Karl Rössler, Cornelia Kraus, Oliver Rompel, Regina Trollmann
Infantile Alexander disease is a rare progressive leukodystrophy caused by autosomal dominant mutations in the (GFAP) gene typically presenting with psychomotor retardation, progressive macrocephaly and refractory epilepsy. Neuroradiological hallmarks are extensive white matter lesions with frontal preponderance as well as signal intensity changes of basal ganglia and medulla oblongata with variable contrast enhancement. Here, we report an atypical manifestation in a 21-month-old boy presenting with flaccid paraparesis and areflexia...
November 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29183766/ketogenic-diet-using-a-japanese-ketogenic-milk-for-patients-with-epilepsy-a-multi-institutional-study
#19
Tomohiro Kumada, Katsumi Imai, Yukitoshi Takahashi, Shin Nabatame, Hirokazu Oguni
BACKGROUND: In Japan, Meiji 817-B (M817-B), a powdered ketogenic milk, has been available since the ketogenic diet was introduced to infants and tube-fed children with medication-resistant epilepsy in the 1980s. METHODS: We retrospectively evaluated the efficacy, tolerability, and side effects of the ketogenic diet using M817-B as the main source of daily food intake for patients with epilepsy by sending questionnaires to the members of a subcommittee of the Japan Epilepsy Society that focuses on the proper use of M817-B...
November 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/29157800/duchenne-muscular-dystrophy-with-platypnea-orthodeoxia-from-chilaiditi-syndrome
#20
Masashi Ogasawara, Akihiko Ishiyama, Akira Sugiura, Kazuhiko Segawa, Ikuya Nonaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Masayuki Sasaki
INTRODUCTION: Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting respiratory or digestive symptoms. CASE PRESENTATION: Our patient was a 20-year-old man with DMD who had been receiving noninvasive positive-pressure ventilation during the night...
November 17, 2017: Brain & Development
journal
journal
27751
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"