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Brain & Development | Page 2

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https://read.qxmd.com/read/31053343/development-and-validation-of-a-novel-scoring-system-to-predict-severe-intraventricular-hemorrhage-in-very-low-birth-weight-infants
#21
Longkai He, Wei Zhou, Xiaopeng Zhao, Xiaoping Liu, Xiao Rong, Yanyan Song
OBJECTIVE: We sought to develop and validate a novel scoring system for the prediction of severe intraventricular hemorrhage (SIVH) in very low birth weight infants (VLBWI). METHODS: This retrospective cohort multicenter study included 615 VLBWI born between 24 and 32 weeks gestational age (GA). Multivariable logistic regression analyses were used to determine which factors evaluated within the first 5 days of life were associated with SIVH and the weights of these variables...
April 30, 2019: Brain & Development
https://read.qxmd.com/read/31036380/microrna-31-regulating-apoptosis-by-mediating-the-phosphatidylinositol-3-kinase-protein-kinase-b-signaling-pathway-in-treatment-of-spinal-cord-injury
#22
REVIEW
Yali Wang, Yitong Yuan, Yuantao Gao, Xiao Li, Feng Tian, Fang Liu, Ruochen Du, Pengfei Li, Fei Wang, Suming Xu, Xueqing Wu, Chunfang Wang
Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apoptosis by regulating a large number of target genes and signaling pathways. In many neurological diseases, cell apoptosis or programmed cell death plays an important role in the reduction of cell number, including the reduction of neurons in spinal cord injuries...
April 26, 2019: Brain & Development
https://read.qxmd.com/read/31029456/rapid-progression-of-a-walking-disability-in-a-5-year-old-boy-with-a-cln6-mutation
#23
Ayumi Matsumoto, Masako Nagashima, Kazuhiro Iwama, Takeshi Mizuguchi, Shinji Makino, Takahiro Ikeda, Kazuhiro Muramatsu, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
INTRODUCTION: Neuronal ceroid lipofuscinoses (NCLs; CLN) are mainly autosomal recessive neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal and other cells. Symptoms include visual disabilities, motor decline, and epilepsy. Causative genes are CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, CLN11, CLN12, CLN13, and CLN14. We present the fourth Japanese case with a CLN6 mutation. CASE PRESENTATION: At 3 years of age, our patient became clumsy and fell down easily...
April 24, 2019: Brain & Development
https://read.qxmd.com/read/31027652/reply-to-the-letter-methotrexate-myelopathy-a-mimicker-of-subacute-combined-degeneration-of-the-spinal-cord
#24
LETTER
Takuji Nakamura, Muneaki Matsuo
No abstract text is available yet for this article.
April 23, 2019: Brain & Development
https://read.qxmd.com/read/31027651/a-case-of-early-myoclonic-encephalopathy-with-intractable-seizures-successfully-treated-with-high-dose-phenobarbital
#25
Takuya Kosaka, Genrei Ohta, Hiroshi Kometani, Masao Kawatani, Yusei Ohshima
BACKGROUND: Early myoclonic encephalopathy (EME) is an epileptic syndrome that develops in neonates, commonly within 1 month of birth. The condition is characterized by irregular, partial, and asynchronous myoclonus. The seizures in EME are generally refractory to antiepileptic drugs and no effective treatment for EME has been established. We encountered a case of EME in which oral high-dose phenobarbital therapy effectively alleviated seizures. CASE REPORT: A male infant developed erratic myoclonus in the face and limbs, exhibited upward gaze and facial flushing 20-30 times a day since 1 week of age...
April 23, 2019: Brain & Development
https://read.qxmd.com/read/30922528/neuronal-ceroid-lipofuscinosis-type-11-in-an-adolescent
#26
Mahesh Kamate, Mayank Detroja, Virupaxi Hattiholi
Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL type 11 was first described in 2014 in two siblings as adult-onset NCL and was found to be due to a homozygous progranulin gene mutation. These siblings had progressive retinopathy, recurrent generalized seizures, moderate ataxia and subtle cognitive dysfunction...
June 2019: Brain & Development
https://read.qxmd.com/read/30850156/rhinovirus-associated-acute-encephalitis-encephalopathy-and-cerebellitis
#27
Kyoko Hazama, Takashi Shiihara, Hiroyuki Tsukagoshi, Takeshi Matsushige, Yuri Dowa, Mio Watanabe
BACKGROUND: Rhinovirus is a common respiratory pathogen for children throughout the year; nevertheless, its central nervous system involvement is extremely rare, and only two cases have been reported to date: meningitis and sepsis-like illness. PATIENT: A previously healthy 2-year-old Japanese boy developed fever, followed by seizures and lethargy. His cerebrospinal fluid cell count and protein level were slightly increased; brain magnetic resonance imaging showed abnormal intensities in the bilateral cerebellar dentate nuclei, which were prominent in diffusion-weighted images...
June 2019: Brain & Development
https://read.qxmd.com/read/30833092/clinical-time-course-of-pediatric-acute-disseminated-encephalomyelitis
#28
Masahiro Nishiyama, Hiroaki Nagase, Kazumi Tomioka, Tsukasa Tanaka, Hiroshi Yamaguchi, Yusuke Ishida, Daisaku Toyoshima, Kyoko Fujita, Azusa Maruyama, Kaori Sasaki, Yoshinobu Oyazato, Taku Nakagawa, Yuichi Takami, Kandai Nozu, Noriyuki Nishimura, Ichiro Nakashima, Kazumoto Iijima
The detailed clinical time course in acute disseminated encephalomyelitis (ADEM) from initial symptoms, through exacerbation, to remission has not been widely reported. Hence, this study aimed to investigate the clinical time course of pediatric ADEM. This was a multicenter retrospective study based on registry data from medical chart reviews. The study included children who met the international consensus diagnostic criteria for ADEM. The patients comprised 18 boys and 6 girls, with a mean age of 5.5 ± 3...
June 2019: Brain & Development
https://read.qxmd.com/read/30642617/electroencephalographic-and-epilepsy-findings-in-mecp2-duplication-syndrome-a-family-study
#29
Federica Lotti, Ursula Geronzi, Salvatore Grosso
MECP2 duplication syndrome (MECP2 DS) is an X-linked disorder characterized by early-onset hypotonia, poor speech development, recurrent respiratory infections, epilepsy and progressive spasticity. Epilepsy occurs in more than 50% of the affected patients. Generalized tonic-clonic seizures (GTCS) are the most common seizure-type described but atonic seizures, absences and myoclonic seizures have also been reported. Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated...
May 2019: Brain & Development
https://read.qxmd.com/read/30639077/clinical-manifestations-treatment-outcomes-and-prognostic-factors-of-pediatric-anti-nmdar-encephalitis-in-tertiary-care-hospitals-a-multicenter-retrospective-prospective-cohort-study
#30
Napa Pruetarat, Wiracha Netbaramee, Siriporn Pattharathitikul, Montida Veeravigrom
OBJECTIVE: Anti-NMDAR encephalitis is an acute autoimmune neurological disorder that is increasingly recognized in pediatric populations. Several studies of the disorder have been conducted worldwide but there are few publications in Thailand. Here, we describe the clinical manifestations, treatment outcomes, and prognostic factors in children with anti-NMDAR encephalitis. METHODS: Between January 2007 and September 2017, we conducted a retrospective/prospective cohort study of children diagnosed with anti-NMDAR encephalitis from three tertiary care hospitals in Thailand: King Chulalongkorn Memorial Hospital, Chonburi Hospital, and Prapokklao Hospital...
May 2019: Brain & Development
https://read.qxmd.com/read/30638692/the-ketogenic-diet-for-super-refractory-status-epilepticus-patients-in-intensive-care-units
#31
Eu Gene Park, Jiwon Lee, Jeehun Lee
OBJECTIVES: Super-refractory status epilepticus (SRSE) is one of the most challenging issues in intensive care units (ICUs) in that it is associated with high morbidity and mortality. Although the ketogenic diet (KD) has been reported to be effective in treating of SRSE, the use of the diet as therapy can be complicated by concomitant medical problems specific to critically ill patients. In this study, we aimed to describe our experience of the KD for SRSE patients in ICUs. METHODS: We retrospectively reviewed the medical records of 16 patients (10 males, 6 females) with SRSE who were treated with the KD in the ICUs at Samsung Medical Center from July 2005 to July 2017...
May 2019: Brain & Development
https://read.qxmd.com/read/30594353/serial-mri-findings-of-acute-flaccid-myelitis-during-an-outbreak-of-enterovirus-d68-infection-in-japan
#32
Akihisa Okumura, Harushi Mori, Pin Fee Chong, Ryutaro Kira, Hiroyuki Torisu, Sawa Yasumoto, Hiroyuki Shimizu, Tsuguto Fujimoto, Keiko Tanaka-Taya
OBJECIVE: To clarify the neuroimaging findings of children with acute flaccid myelitis during an outbreak of EV-D68 infection. METHODS: We performed a detailed review of the spinal and cranial MRI results of 54 children with acute flaccid myelitis. We focused on the range of longitudinal lesions, the localization and appearance of lesions within a horizontal section, Gadolinium-enhancement, and changes over time. RESULTS: All children had longitudinal spinal lesions involving central gray matter...
May 2019: Brain & Development
https://read.qxmd.com/read/31005361/anterior-cingulate-cortex-involvement-in-non-paraneoplastic-limbic-encephalitis
#33
Kyosuke Ibi, Katsunori Fujii, Hironobu Kobayashi, Masayoshi Senda, Katsuhiko Kitazawa, Akihito Honda
BACKGROUND: Non-paraneoplastic limbic encephalitis is characterized by attention deficit, loss of emotion control, and impaired memory. Viral infection can cause acute encephalitis in children, occasionally exhibiting clinical features of limbic dysfunction. However, how viral infection affects the limbic system remains to be elucidated. CASE DESCRIPTION: A 5-year-old Japanese boy was admitted to our hospital because of high fever and status epilepticus. After seizures were controlled by diazepam, he exhibited attention deficit, loss of emotion control, and impaired memory, suggesting acute limbic encephalitis...
April 17, 2019: Brain & Development
https://read.qxmd.com/read/31003834/longitudinal-magnetic-resonance-imaging-changes-in-japanese-encephalitis
#34
Yukie Arahata, Katsunori Fujii, Tatsuya Nishimura, Tomoko Uchida, Katsuhiko Kitazawa, Akihito Honda
BACKGROUND: Japanese encephalitis is a flavivirus that can cause pandemic encephalitis, and is prevalent in Southeast Asia and Australia. Brain images of patients with Japanese encephalitis are characterized by thalamic lesions, distinct from those seen in viral encephalopathies caused by the herpes simplex virus and West Nile virus. AIM: Herein, we describe for the first time a time-dependent magnetic resonance imaging pattern in Japanese encephalitis in a 10-month-old Japanese boy...
April 16, 2019: Brain & Development
https://read.qxmd.com/read/31003833/epileptic-spasm-and-other-forms-of-epilepsy-in-presumed-perinatal-arterial-ischemic-stroke-in-turkey-after-more-than-10-years-follow-up-a-single-centre-study
#35
Gonca Bektaş, Osman Kipoğlu, Edibe Pembegül Yıldız, Nur Aydınlı, Mine Çalışkan, Meral Özmen, Serra Sencer
PURPOSE: To identify the frequency of epilepsy and whether the association of epilepsy with clinical and neuroimaging findings in children with presumed perinatal arterial ischemic stroke (PPAIS). METHODS: We performed a retrospective analysis of 37 children with PPAIS followed-up at a tertiary referral center between January 1, 2000, and October 31, 2016. Clinical data including demographic features, age at onset of symptoms and seizures, initial clinical presentation, epilepsy features, used antiepileptic drugs, and thrombophilia screening results were abstracted from medical records...
April 16, 2019: Brain & Development
https://read.qxmd.com/read/31000370/brain-gliomas-hydrocephalus-and-idiopathic-aqueduct-stenosis-in-children-with-neurofibromatosis-type-1
#36
Marie Glombova, Borivoj Petrak, Jiri Lisy, Josef Zamecnik, David Sumerauer, Petr Liby
PURPOSE: To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis. SUBJECTS AND METHODS: We analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery...
April 15, 2019: Brain & Development
https://read.qxmd.com/read/31000369/findings-of-amplitude-integrated-electroencephalogram-recordings-and-serum-vitamin-b6-metabolites-in-perinatal-lethal-hypophosphatasia-during-enzyme-replacement-therapy
#37
Tomonori Ishiguro, Yuichiro Sugiyama, Kazuto Ueda, Yukako Muramatsu, Hiroyuki Tsuda, Tomomi Kotani, Toshimi Michigami, Kanako Tachikawa, Tomoyuki Akiyama, Masahiro Hayakawa
Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene. HPP is characterized by defective bone mineralization. It frequently accompanies pyridoxine-responsive seizures. Because alkaline phosphatase change pyridoxal 5' phosphate (PLP) into pyridoxal (PL), which can cross the blood brain barrier and regulates inhibitory neurotransmitter gamma-aminobutyric acid. The female patient was born at a gestational age of 37 weeks 2 days...
April 15, 2019: Brain & Development
https://read.qxmd.com/read/30982706/flavin-adenine-dinucleotide-synthase-deficiency-due-to-flad1-mutation-presenting-as-multiple-acyl-coa-dehydrogenation-deficiency-like-disease-a-case-report
#38
Kenji Yamada, Michinori Ito, Hironori Kobayashi, Yuki Hasegawa, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classically caused by a congenital defect in electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). Flavin adenine dinucleotide synthase (FADS) deficiency caused by mutations in FLAD1 was recently reported as a novel riboflavin metabolism disorder resembling MADD. Here, we describe a Japanese boy with FADS deficiency due to a novel mutation (p.R249*) in FLAD1. In the asymptomatic male infant born at full term, newborn screening showed positive results with elevated C5 and C14:1 acylcarnitine levels and an increased C14:1/C2 ratio...
April 11, 2019: Brain & Development
https://read.qxmd.com/read/30961960/hyperammonemia-in-a-case-of-herpes-simplex-and-anti-n-methyl-d-aspartate-receptor-encephalitis
#39
Jung Min Ko, Woo Joong Kim, Soo Yeon Kim, Jun Hwa Lee, Jong Hee Chae, Ki Joong Kim, Byung Chan Lim
Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of anti-NMDAR encephalitis; this patient showed subsequent recurrent, unexplained episodes of encephalopathy associated with hyperammonemia. The patient was diagnosed with lysinuric protein intolerance (LPI), a rare inborn metabolic disorder...
April 5, 2019: Brain & Development
https://read.qxmd.com/read/30954360/efficacy-of-phenobarbital-for-benign-convulsions-with-mild-gastroenteritis-a-randomized-placebo-controlled-trial
#40
Yuichi Takami, Taku Nakagawa
OBJECTIVE: This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS: A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Patients with CwG who had experienced two or more seizures were eligible. Patients were excluded if any anticonvulsant was used before enrollment. Patients who were allocated to the PB group were administered 10 mg/kg of PB intravenously...
April 3, 2019: Brain & Development
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