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https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#1
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28100327/-intermittent-convulsions-for-1-5-years-and-psychomotor-retardation-in-a-girl
#2
Li Yang, Yu-Fen Li, Li-Yun Xu, Na Xu, Yu-Zeng Han, Jun-Lin Wang, Ji-Guo Song, Ying Hua, Li-Ping Zhu
The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28099181/adverse-events-and-risk-factors-during-emergency-intubation-in-a-tertiary-paediatric-emergency-department
#3
Ruth M C Löllgen, Jennifer Pontin, Matthew Gow, Mary E McCaskill
BACKGROUND: Rapid sequence intubation and emergency intubation in the emergency department (ED) can be life-saving procedures, but require the appropriate skills, experience and preparation to avoid complications ranging from simple trauma to life-threatening desaturation. Only scarce data exist in the published literature on complications following emergency intubation in children and most guidelines are extrapolated from the adult population. PATIENTS AND METHODS: We reviewed all emergency intubations of patients in our tertiary paediatric ED within a 2-year period to estimate the incidence of complications and to analyse the risk factors associated with this procedure...
January 17, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#4
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#5
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28073351/exploring-neurodevelopmental-outcome-measures-used-in-children-with-cerebral-malaria-the-perspectives-of-caregivers-and-health-workers-in-malawi
#6
Emmie W Mbale, Terrie Taylor, Bernard Brabin, Macpherson Mallewa, Melissa Gladstone
BACKGROUND: Progress has been made in tackling malaria however there are still over 207 million cases worldwide, the majority in children. As survival rates improve, numbers of children with long-term neurodisabling sequelae are likely to increase. Most outcome studies in cerebral malaria (CM) have focused only on body function and structure and less on outcomes within the broader framework of the International Classification of Functioning and Disability (ICF). The aim of this study was to utilise qualitative methods to identify relevant clinical outcomes in CM to support formulation of a core outcome set relevant to CM and other acquired brain injuries for use in future clinical trials...
January 10, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28064325/childhood-epilepsies-what-should-a-pediatrician-know
#7
Fahad A Bashiri
Seizures in children are among the most common neurological disorders. A pediatrician should know how to approach a child who presents with a seizure. This review will focus on points that are important in the evaluation of children who have experienced seizures. A comprehensive and neurologically focused framework for history taking and a thorough clinical examination are the cornerstones in diagnosing and managing seizures. This article reviews the clinical approach to the diagnosis, investigation, and management of epilepsy in children, excluding neonatal seizures...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28043238/recurrent-ataxia-in-children-and-adolescents
#8
Michael S Salman, Samantha F Klassen, Janine L Johnston
BACKGROUND: Recurrent ataxia is encountered infrequently in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by several disorders. Our aims were to describe the epidemiology and clinical features in children with recurrent ataxia. MATERIALS AND METHODS: A retrospective review was undertaken in 185 children with chronic ataxia, who presented during 1991 to 2008. Several databases were searched to ensure optimum ascertainment...
January 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28042220/internal-carotid-artery-fibromuscular-dysplasia-in-a-child-incidental-postmortem-finding-after-head-injury
#9
Arulselvi Subramanian, Garima Aggarwal, Deepak Agarwal, Sanjeev Lalwani
Fibromuscular dysplasia (FMD) is a rare, segmental, nonatheromatous, and noninflammatory arterial disease of unknown etiology. It predominantly involves renal artery (60-75%) followed by extracranial part of the internal carotid artery and vertebral arteries (25-30%). The disease typically affects middle-aged women and involves intermediate-sized arteries throughout the body. There are rare case reports of extracranial FMD compounding a trauma case. A patient was brought to trauma center emergency with a history of fall from height...
January 2017: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/28031547/behavioral-problems-in-indian-children-with-epilepsy
#10
Om P Mishra, Aishvarya Upadhyay, Rajniti Prasad, Shashi K Upadhyay, Satya K Piplani
OBJECTIVE: To assess prevalence of behavioral problems in children with epilepsy. METHODS: This was a cross -sectional study of children with epilepsy, and normal controls enrolled between July 2013 to June 2015. Child Behavior Checklist (CBCL) was used as a tool to assess the behavior based on parents reported observation. RESULTS: There were 60 children with epilepsy in 2-5 years and 80 in 6-14 years age groups, and 74 and 83 unaffected controls, respectively...
December 5, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/28028858/mid-face-toddler-excoriation-syndrome-mites-a-new-paediatric-diagnosis
#11
S M Srinivas, V K Gowda, C M Owen, C Moss, R Hiremagalore
Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28018466/a-young-child-of-anti-nmda-receptor-encephalitis-presenting-with-epilepsia-partialis-continua-the-first-pediatric-case-in-korea
#12
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018465/ictal-sinus-pause-and-myoclonic-seizure-in-a-child
#13
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#14
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27997354/applications-of-transcranial-direct-current-stimulation-in-children-and-pediatrics
#15
Guadalupe Nathzidy Rivera-Urbina, Michael A Nitsche, Carmelo M Vicario, Andrés Molero-Chamizo
Transcranial direct current stimulation (tDCS) is a neuromodulatory noninvasive brain stimulation tool with potential to increase or reduce regional and remote cortical excitability. Numerous studies have shown the ability of this technique to induce neuroplasticity and to modulate cognition and behavior in adults. Clinical studies have also demonstrated the ability of tDCS to induce therapeutic effects in several central nervous system disorders. However, knowledge about its ability to modulate brain functions in children or induce clinical improvements in pediatrics is limited...
December 20, 2016: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/27993821/sturge-weber-syndrome-type-3-manifesting-as-status-migrainosus
#16
Philip Richard Jordan, Mehtab Iqbal, Manish Prasad
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterised by facial naevus and leptomeningeal angiomatosis resulting in neurological and ophthalmological complications. In its rare variant, SWS type 3, the clinical hallmark of facial naevus is absent which poses a diagnostic challenge. Here, we present an interesting case of SWS type 3 where a child presented twice with prolonged severe unilateral headache mimicking migraine status followed on both occasions with focal seizures. He developed a dense right-sided homonymous hemianopia, and an urgent brain MRI scan was performed which pointed towards the diagnosis of SWS type 3...
December 19, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27989601/epileptic-spasms-175-years-on-trying-to-teach-an-old-dog-new-tricks
#17
Jo M Wilmshurst, Roland C Ibekwe, Finbar J K O'Callaghan
PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review. RESULTS: Infantile spasms, first described by Dr West in 1841, has undergone extensive investigation to understand the pathogenesis, aetiologies, optimal intervention and most likely prognosis for the affected child. The terminology has recently evolved such that the preferred term for the condition is now "epileptic spasms" in recognition of the fact that cases can present outside infancy...
December 6, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27956202/vaginal-birth-after-cesarean-neonatal-outcomes-and-united%C3%A2-states-birth%C3%A2-setting
#18
Ellen L Tilden, Melissa Cheyney, Jeanne-Marie Guise, Cathy Emeis, Jodi Lapidus, Frances M Biel, Jack Wiedrick, Jonathan M Snowden
BACKGROUND: Women who seek vaginal birth after cesarean delivery may find limited in-hospital options. Increasing numbers of women in the United States are delivering by vaginal birth after cesarean delivery out-of-hospital. Little is known about neonatal outcomes among those who deliver by vaginal birth after cesarean delivery in- vs out-of-hospital. OBJECTIVE: The purpose of this study was to compare neonatal outcomes between women who deliver via vaginal birth after cesarean delivery in-hospital vs out-of-hospital (home and freestanding birth center)...
December 9, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27942481/posterior-reversible-encephalopathy-syndrome-after-intrathecal-methotrexate-infusion-a-case-report-and-literature-update
#19
Efterpi Pavlidou, Evangelos Pavlou, Athanasia Anastasiou, Zoi Pana, Vasiliki Tsotoulidou, Maria Kinali, Emmanuel Hatzipantelis
Posterior reversible encephalopathy syndrome (PRES) is a rare clinical-radiological entity characterised by seizures, severe headache, mental status instability and visual disturbances. Hypertension is typically present. We report a case of a 13-year old boy with Burkitt lymphoma/leukaemia, who presented with posterior leukoencephalopathy 24 hours after intrathecal methotrexate (MTX) infusion. The child presented with headache, seizures, elevated blood pressure and gradual deterioration of his neurological status...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27935018/tolerability-and-efficacy-of-perampanel-in-children-with-refractory-epilepsy
#20
Eli Heyman, Eli Lahat, Noa Levin, Orna Epstein, Mirit Lazinger, Matitiahu Berkovitch, Revital Gandelman-Marton
AIM: There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children with refractory epilepsy. METHOD: Computerized medical records of children treated with perampanel in the paediatric neurology clinic from December 2012 to October 2015 were reviewed. RESULTS: Twenty-four children treated with perampanel (15 females, 9 males) aged 1 year 6 months to 17 years (mean 10y, standard deviation [SD] 4y 5mo) were identified...
December 9, 2016: Developmental Medicine and Child Neurology
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