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https://www.readbyqxmd.com/read/29785989/cerebral-visual-impairment-in-children-causes-and-associated-ophthalmological-problems
#1
Niranjan Pehere, Pratik Chougule, Gordon N Dutton
Purpose: The aim of this study is to identify common causes, associated ophthalmological abnormalities, and systemic comorbidities in children in Andhra Pradesh, India, with cerebral visual impairment (CVI). Methods: A retrospective review of case records of all children aged <16 years with diagnosis of CVI seen between January 2016 and December 2016 was carried out. Data were collected for their age, gender, cause of CVI, refraction, accommodation, anterior and posterior segment examination findings, and systemic problems...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29783990/severe-hepatopathy-and-neurological-deterioration-after-start-of-valproate-treatment-in-a-6-year-old-child-with-mitochondrial-tryptophanyl-trna-synthetase-deficiency
#2
Elise Vantroys, Joél Smet, Arnaud V Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
BACKGROUND: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS: Here, we report on a subject who presented with early developmental delay, motor weakness and intellectual disability and who was considered during several years as having a non-progressive encephalopathy...
May 21, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#3
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29771863/upshaw-schulman-syndrome-with-c-2728c-t-mutation-in-adamts13-gene
#4
Shahzadi Resham, Zehra Fadoo, Bushra Moiz
Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion...
May 16, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#5
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29763644/immunomodulatory-effect-of-celecoxib-on-hmgb1-tlr4-pathway-in-a-recurrent-seizures-model-in-immature-rats
#6
Mariana Morales-Sosa, Sandra Orozco-Suárez, AngélicaVega-García, Sara Caballero-Chacón, Iris A Feria-Romero
Epileptic seizures constitute an important problem in pediatric neurology during the developmental period. The frequency and nosological significance of seizures, as well as their association with epileptogenesis, may be related to underlying mechanisms such as neuroinflammation. Those mechanisms of response activate inflammatory molecules induced in the neurons, activated glial cells and endothelial cells via the key HMGB1/TLR4 pathway. In this study, the drug celecoxib (CCX) was used as a blocker of the cyclooxygenase 2 (COX-2) and HMGB1/TLR-4 pathways...
May 12, 2018: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/29760947/incorporating-epilepsy-genetics-into-clinical-practice-a-360%C3%A2-evaluation
#7
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F Hughes, Ruth E Williams, Line H G Larsen, Qin Hao, Hans Atli Dahl, Rikke S Møller, Deb K Pal
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing. We developed NGS panels, performing clinical interpretation with a multidisciplinary team...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29758444/yield-of-eeg-monitoring-in-children-with-developmental-disabilities-is-high
#8
Ali A Asadi-Pooya
PURPOSE: The purpose of this study was to investigate the yield of a 2-hour electroencephalography (EEG) monitoring (awake and sleep) in children with developmental disabilities and without any clinically apparent seizures. METHODS: In this retrospective study, I investigated all children below 9 years of age who had developmental disabilities and were referred to Shiraz Comprehensive Epilepsy center for electroencephalographic investigation from June 2017 until January 2018...
May 11, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29750802/severe-neonatal-hyperbilirubinemia-induces-temporal-and-occipital-lobe-seizures
#9
Lian Zhang
To examine the origin of seizures induced by severe neonatal hyperbilirubinemia, The EEG characteristics of seizures were analyzed in newborns with and without severe neonatal hyperbilirubinemia. Fisher's exact test was used to determine the specificity. In total, 931 patients had a total serum bilirubin (TSB) level of 340-425 μmol/L, only 2 of whom had seizures. Compared to patients with hyperbilirubinemia and a TSB level of 340-425 μmol/L, those with a TSB level >425 μmol/L had a significant risk of seizure (OR = 213...
2018: PloS One
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#10
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29747890/detection-and-prevention-of-perinatal-infection-cytomegalovirus-and-zika-virus
#11
REVIEW
Amber M Wood, Brenna L Hughes
Congenital cytomegalovirus is the most common viral congenital infection, and affects up to 2% of neonates. Significant sequelae may develop after congenital cytomegalovirus, including hearing loss, cognitive defects, seizures, and death. Zika virus is an emerging virus with perinatal implications; a congenital Zika virus syndrome has been identified, and includes findings such as microcephaly, fetal nervous system abnormalities, and neurologic sequelae after birth. Screening, diagnosis, prevention, and treatment of these perinatal infections are reviewed in this article...
June 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29747532/neonatal-seizure-detection-using-deep-convolutional-neural-networks
#12
Amir H Ansari, Perumpillichira J Cherian, Alexander Caicedo, Gunnar Naulaers, Maarten De Vos, Sabine Van Huffel
Identifying a core set of features is one of the most important steps in the development of an automated seizure detector. In most of the published studies describing features and seizure classifiers, the features were hand-engineered, which may not be optimal. The main goal of the present paper is using deep convolutional neural networks (CNNs) and random forest to automatically optimize feature selection and classification. The input of the proposed classifier is raw multi-channel EEG and the output is the class label: seizure/nonseizure...
April 2, 2018: International Journal of Neural Systems
https://www.readbyqxmd.com/read/29743770/paradoxical-reaction-to-midazolam-in-preterm-neonates-a-case-series
#13
Mahendra Kumar Gupta, Jayashree A Mondkar, Deepraj Hegde
Midazolam is a drug belonging to the benzodiazepine group and is used commonly for seizure control as well as preoperative and procedure-related sedation in neonates. Many adverse effects of midazolam have been reported in the past. Paradoxical stimulation of the central nervous system such as restlessness, nightmare, and hallucinations as well as hypomanic behavior has been reported in adults and children. Seizure is a rare adverse effect of midazolam. Cases of myoclonic movements associated with midazolam have been published worldwide; however, none so far have been reported from India...
April 2018: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/29738885/regulation-of-seizure-induced-mecp2-ser421-phosphorylation-in-the-developing-brain
#14
Evan C Rosenberg, Jocelyn J Lippman-Bell, Marcus Handy, Samantha S Soldan, Sanjay Rakhade, Cristina Hilario-Gomez, Kaitlyn Folweiler, Leah Jacobs, Frances E Jensen
Neonatal seizures disrupt normal synaptic maturation and often lead to later-life epilepsy and cognitive deficits. During early life, the brain exhibits heightened synaptic plasticity, in part due to a developmental overabundance of CaV 1.2 L-type voltage gated calcium (Ca2+ ) channels (LT-VGCCs) and Ca2+ -permeable AMPARs (CP-AMPARs) lacking GluA2 subunits. We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca2+ -dependent signaling pathways including that of methyl-CPG-binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome...
May 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29737274/antiepileptic-drug-monitoring-in-pregnancy-empire-a-double-blind-randomised-trial-on-effectiveness-and-acceptability-of-monitoring-strategies
#15
Shakila Thangaratinam, Nadine Marlin, Sian Newton, Annalise Weckesser, Manny Bagary, Lynette Greenhill, Rachel Rikunenko, Maria D'Amico, Ewelina Rogozińska, Andrew Kelso, Kelly Hard, Jamie Coleman, Ngawai Moss, Tracy Roberts, Lee Middleton, Julie Dodds, Angela Pullen, Sandra Eldridge, Alexander Pirie, Elaine Denny, Doug McCorry, Khalid S Khan
BACKGROUND: Pregnant women with epilepsy on antiepileptic drugs (AEDs) may experience a reduction in serum AED levels. This has the potential to worsen seizure control. OBJECTIVE: To determine if, in pregnant women with epilepsy on AEDs, additional therapeutic drug monitoring reduces seizure deterioration compared with clinical features monitoring after a reduction in serum AED levels. DESIGN: A double-blind, randomised trial nested within a cohort study was conducted and a qualitative study of acceptability of the two strategies was undertaken...
May 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29732456/a-quality-initiative-for-optimal-therapeutic-hypothermia-during-transport-for-neonates-with-neonatal-encephalopathy
#16
Stephanie L Bourque, Stephanie A Meier, Claire Palmer, Diane L Melara, Theresa R Grover, Cassidy A Delaney
Introduction: Neuroprotection with therapeutic hypothermia (TH) is standard of care for neonatal encephalopathy (NE) and decreases death and neurodevelopmental disability. TH initiated shortly after birth insult results in greater neuroprotection compared with delayed initiation. Methods: Quality improvement methodology was used to improve temperature control during transport to a level IV neonatal intensive care unit. We included neonates with NE transported to a single institution for TH from 2010 to 2016...
March 2018: Pediatric quality & safety
https://www.readbyqxmd.com/read/29728616/the-role-of-kainate-receptors-in-the-pathophysiology-of-hypoxia-induced-seizures-in-the-neonatal-mouse
#17
Denise K Grosenbaugh, Brittany M Ross, Pravin Wagley, Santina A Zanelli
Kainate receptors (KARs) are glutamate receptors with peak expression during late embryonic and early postnatal periods. Altered KAR-mediated neurotransmission and subunit expression are observed in several brain disorders, including epilepsy. Here, we examined the role of KARs in regulating seizures in neonatal C57BL/6 mice exposed to a hypoxic insult. We found that knockout of the GluK2 subunit, or blockade of KARs by UBP310 reduced seizure susceptibility during the period of reoxygenation. Following the hypoxic insult, we observed an increase in excitatory neurotransmission in hippocampal CA3 pyramidal cells, which was blocked by treatment with UBP310 prior to hypoxia...
May 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29726081/liver-transplantation-for-neonatal-onset-citrullinemia
#18
Roshni Vara, Anil Dhawan, Maesha Deheragoda, Stephanie Grünewald, Germaine Pierre, Nigel D Heaton, Hector Vilca-Melendez, Nedim Hadžić
Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, seizures, and if untreated can be fatal. Despite advances in medical therapy, neurocognitive outcomes remain suboptimal. LT has emerged as a potential management option. A retrospective single-center review identified 7 children with a median age of 1.1 years (range, 0.6-5.8) at referral. Five children presented clinically, and 2 were treated prospectively from birth due to positive family history...
May 3, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29720941/neonatal-seizure-models-to-study-epileptogenesis
#19
REVIEW
Yuka Kasahara, Yuji Ikegaya, Ryuta Koyama
Current therapeutic strategies for epilepsy include anti-epileptic drugs and surgical treatments that are mainly focused on the suppression of existing seizures rather than the occurrence of the first spontaneous seizure. These symptomatic treatments help a certain proportion of patients, but these strategies are not intended to clarify the cellular and molecular mechanisms underlying the primary process of epilepsy development, i.e., epileptogenesis. Epileptogenic changes include reorganization of neural and glial circuits, resulting in the formation of an epileptogenic focus...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29720158/a-systematic-review-comparing-neurodevelopmental-outcome-in-term-infants-with-hypoxic-and-vascular-brain-injury-with-and-without-seizures
#20
T R De Haan, J Langeslag, J H van der Lee, A H van Kaam
BACKGROUND: There is increasing evidence that neonatal seizures in term neonates with stroke, asphyxia or brain haemorrhage might be associated with adverse neurodevelopment and development of epilepsy. The extent of this association is not known. The objective of this study was to assess the possible impact of neonatal seizures on these outcomes and if possible calculate a relative risk. METHODS: A systematic review and meta-analysis was performed (study period January 2000-June 2015)...
May 2, 2018: BMC Pediatrics
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