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https://www.readbyqxmd.com/read/29457236/time-is-ethics
#1
Mark Mercurio
Early in my career as a neonatologist, I was called into the hospital for a newborn who would not stop crying. Screaming, really. When I entered the unit, I was greeted by a loud, shrill, distinctive cry. After hearing the history and examining the baby, I just stood there for a while, watching and listening. It took some time, but eventually, I noticed a subtle regularity, a rhythmicity. I took off my watch, placed it on the bed next to the child, and found that the crying briefly grew louder about every six or seven seconds...
January 2018: Hastings Center Report
https://www.readbyqxmd.com/read/29456978/a-case-of-tyrosinemia-type-iii-with-status-epilepticus-and-mental-retardation
#2
Reza Najafi, Neda Mostofizadeh, Mahin Hashemipour
Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29454756/outcomes-after-acute-symptomatic-seizures-in-neonates
#3
REVIEW
Hannah C Glass, Zachary M Grinspan, Renée A Shellhaas
Acute symptomatic seizures are a common sign of neurological dysfunction and brain injury in neonates and occur in approximately one to three per 1000 live births. Seizures in neonates are usually a sign of underlying brain injury and, as such, are commonly associated with adverse outcomes. Neurological morbidities in survivors often co-occur; epilepsy, cerebral palsy, and intellectual disability often occur together in the most severely affected children. Risk factors for adverse outcome include prematurity, low Apgar scores, low pH on the first day of life, seizure onset <24 or >72 h after birth, abnormal neonatal neurological examination, abnormal neonatal electroencephalographic background, status epilepticus, and presence and pattern of brain injury (particularly deep gray or brainstem injury)...
February 6, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29454255/effects-of-adjunctive-eslicarbazepine-acetate-on-neurocognitive-functioning-in-children-with-refractory-focal-onset-seizures
#4
Sergiusz Jóźwiak, P Veggiotti, J Moreira, H Gama, F Rocha, P Soares-da-Silva
PURPOSE: This was a phase-II, randomized, double-blind (DB), placebo-controlled study aimed to evaluate neurocognitive effects of eslicarbazepine acetate (ESL) as adjunctive therapy in pediatric patients with refractory focal-onset seizures (FOS). METHODS: Children (6-16years old) with FOS were randomized (2:1) to ESL or placebo. Treatment started at 10mg/kg/day, was up-titrated up to 30mg/kg/day (target dose), and maintained for 8weeks, followed by one-year open-label follow-up...
February 13, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29437806/rhabdomyolysis-in-stuve-wiedemann-syndrome
#5
Pemantah Sandheeah Ramdeny, Colin Powell, Mallinath Chakraborty, Louise Hartley
A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to have developed severe rhabdomyolysis (creatine kinase level 132 040 U/L (normal <320 U/L)). He was born from consanguineous parents with homozygous mutations in the leukaemia inhibitory factor receptor. He had skeletal dysplasia with metabolic bone disease and episodes of hyperthermia with lactic acidosis...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29432237/hypoxic-ischemic-encephalopathy-and-other-neonatal-encephalopathies
#6
Hannah C Glass
PURPOSE OF REVIEW: Neonatal encephalopathy is the most common condition in neonates encountered by child neurologists. The etiology is most often global hypoxia-ischemia due to failure of cerebral perfusion to the fetus caused by uterine, placental, or umbilical cord compromise prior to or during delivery. Other etiologies of neonatal encephalopathy include ischemic stroke and intracranial hemorrhage, infection, developmental anomalies, and inborn errors of metabolism. RECENT FINDINGS: Therapeutic hypothermia is standard of care for the treatment of neonatal encephalopathy presumed to be caused by hypoxia-ischemia...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29427049/favourable-outcome-in-a-child-with-symptomatic-diagnosis-of-glutaric-aciduria-type-1-despite-vertical-hiv-infection-and-minor-head-trauma
#7
Angeline Thomas, Els F M Dobbels, Priscilla E Springer, Christelle Ackermann, Mark F Cotton, Barbara Laughton
The first case of Glutaric aciduria Type 1(GA1) in an African child was reported in 2001. GA1 has a prevalence of 1:5000 in black South Africans. Although early diagnosis is essential for a favourable outcome, newborn screening is not routine in South Africa where an estimated 320,000 children have HIV infection. Neurodevelopmental delay and encephalopathy are complications of both HIV and GA1. In such a setting it is important to recognise that HIV and GA1 can occur simultaneously. We present an HIV-infected South African male child of Xhosa descent with macrocephaly who commenced combination antiretroviral therapy (ART) at 8 weeks of age in a clinical trial which included a neurodevelopmental sub-study...
February 9, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29426729/parental-perspectives-of-the-impact-of-epilepsy-and-seizures-on-siblings-of-children-with-epilepsy
#8
Barbara L Kroner, Mary-Anne Ardini, Adrian Bumbut, William D Gaillard
INTRODUCTION: To assess parental perspectives of the impact of epilepsy and seizures on siblings of children in the Seizures and Outcomes Study. METHODS: Parents completed surveys about their child with epilepsy, their own health and well-being, and the impact of epilepsy on unaffected siblings. RESULTS: The most common parental responses about the sibling were witnessing a seizure, protectiveness of the child with epilepsy, worry about seizures, belief that seizures cause pain, and pride toward the child with epilepsy...
February 6, 2018: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/29414559/development-of-outcome-criteria-to-measure-effectiveness-of-antiepileptic-therapy-in-children
#9
Roshini Murugupillai, Shalini Sri Ranganathan, Jithangi Wanigasinghe, Ravi Muniyandi, Carukshi Arambepola
PURPOSE: Clinical trials of antiepileptic drugs frequently measure outcomes of seizure control, which demonstrate efficacy. Yet, functional status, quality of life, and long-term treatment effects reflecting effectiveness are scarcely assessed. We sought to use a consensus method to help identify which outcome criteria key stakeholders consider should be used to measure effectiveness in trials of antiepileptic treatments for children. METHOD: A two-round Delphi survey was used; parents of children with epilepsy and local, international experts comprising academics and clinicians participated in the survey...
January 23, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29414552/does-surgery-help-in-reducing-stigma-associated-with-drug-refractory-epilepsy-in-children
#10
Jitin Bajaj, Manjari Tripathi, Rekha Dwivedi, Savita Sapra, Sheffali Gulati, Ajay Garg, Madhavi Tripathi, Chandra S Bal, Sarat P Chandra
INTRODUCTION: Epilepsy has several comorbidities and associated stigma. Stigma associated with epilepsy is well known and prevalent worldwide. Surgical treatment is an established treatment for drug refractory epilepsy. Following surgery in children, it is possible that the stigma may reduce, but such an effect has not been studied earlier. MATERIALS AND METHODS: Analysis of prospectively collected data was performed for pediatric patients at a single tertiary center for treating epilepsy...
February 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29414550/clinical-aspects-neuroimaging-and-electroencephalography-of-35-cases-of-hemiconvulsion-hemiplegia-syndrome
#11
Mohamed Albakaye, Halima Belaïdi, Fatiha Lahjouji, Leila Errguig, Callixte Kuate, Youssoufa Maiga, Seybou Hassane Diallo, Najib Kissani, Reda Ouazzani
INTRODUCTION: The hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare consequence of febrile seizures during childhood. It is characterized by the presence of prolonged unilateral clonic seizures occurring during febrile illness in a child less than 4years of age. Then, a flaccid unilateral hemiplegia with variable duration occurs. OBJECTIVES: The objective of the study was to describe the clinical, electroencephalogram (EEG), and neuroimaging treatment and outcome of series of cases of HHE syndrome followed for 10years in our clinical neurophysiology department of the specialty hospital of Rabat...
January 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29414540/psychiatric-symptoms-and-health-related-quality-of-life-in-children-with-epilepsy-and-their-mothers
#12
Ayhan Bilgiç, Ümit Işık, Rukiye Sivri Çolak, Hatice Derin, Hüseyin Çaksen
PURPOSE: This study evaluated the psychiatric symptoms and health-related quality of life (HRQL) of children with epilepsy and psychiatric symptoms of their mothers, and compared them to those of healthy children and their mothers. This study also explored the influence of the child-related and maternal psychiatric variables and seizure-specific factors on the HRQLs of children with epilepsy according to both the children's and parents' perspectives. METHOD: Ninety-nine children with epilepsy (8 to 17years old), their mothers, and a control group (n=51) participated in this study...
February 1, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29402263/effect-of-the-2015-earthquake-on-pediatric-inpatient-pattern-at-a-tertiary-care-hospital-in-nepal
#13
Bishnu Rath Giri, Ram Hari Chapagain, Samana Sharma, Sandeep Shrestha, Sunita Ghimire, P Ravi Shankar
BACKGROUND: Earthquakes impact child health in many ways. Diseases occurring immediately following an earthquake have been studied in field based hospitals but studies on the inpatient disease pattern among children without trauma in a permanent hospital setup is lacking. METHODS: We examined the diagnoses of all children without trauma, admitted to Kanti Children's Hospital, Kathmandu for fifteen-week duration (from 4th week to end of the 18th week) following the 7...
February 5, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29396357/quality-of-life-in-malaysian-children-with-epilepsy
#14
Choong Yi Fong, Wei Mun Chang, Ann Nie Kong, Ahmad Mohamed Rithauddin, Teik Beng Khoo, Lai Choo Ong
BACKGROUND: Children with epilepsy (CWE) are at risk of impaired quality of life (QOL), and achieving a good QOL is an important treatment goal among CWE. To date, there are no published multiethnic QOL studies in Asia. Our study aimed to: i) investigate the QOL of multiethnic CWE in Malaysia as reported by both the child and parent; ii) determine the level of agreement between child-self report and parent-proxy report QOL; and iii) explore potential correlates of sociodemographic, epilepsy characteristics, and family functioning with QOL in CWE...
January 20, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29396172/severe-gabaa-receptor-encephalitis-without-seizures-a-paediatric-case-successfully-treated-with-early-immunomodulation
#15
Marc Nikolaus, Ellen Knierim, Christian Meisel, Jakob Kreye, Harald Prüss, Dirk Schnabel, Tilmann Kallinich
BACKGROUND: Autoimmune-mediated processes are the driving force behind many neurological diseases. Autoimmune encephalitis, a group of syndromes, mediated by or at least associated with autoantibodies against neuronal tissue, have gained increasing importance especially in paediatric neurology. Since the first NMDAR encephalitis was described a growing number of patients with encephalopathy, seizures and psychiatric symptoms were found to suffer from treatable autoimmune disorders. Recently a severe form of encephalitis associated with GABAAR antibodies was described showing extensive MRI abnormalities and refractory seizures...
January 9, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29375865/clinical-whole-exome-sequencing-from-dried-blood-spot-identifies-novel-genetic-defect-underlying-asparagine-synthetase-deficiency
#16
Avinash Abhyankar, Michelle Lamendola-Essel, Kelly Brennan, Jessica L Giordano, Cecilia Esteves, Vanessa Felice, Ronald Wapner, Vaidehi Jobanputra
We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood spot can be a valuable option when no biological samples are available from a deceased child.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29372643/child-with-cerebral-malformations-and-epilepsy
#17
Ying Sun, Xuehua Shen, Qiubo Li, Qingxia Kong
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant genetic disorder involving multiple organ systems and primarily characterized by structural brain abnormalities and a distinctive facial appearance. It was caused by ACTB and ACTG1 mutations. Here, we describe the case of a 5 and a half-year-old boy with cerebral malformations and epilepsy. Together with ACTB mutation, these findings are diagnostic of BWCFF. We discuss the clinical characteristics, gene types and seizures of Baraitser-Winter Brain Bridge Facial Syndrome (BWCFF)...
January 26, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29371238/potential-opportunities-for-prevention-or-earlier-diagnosis-of-child-physical-abuse-in-the-inpatient-setting
#18
Henry T Puls, James D Anderst, Jessica L Bettenhausen, Abbey Masonbrink, Jessica L Markham, Laura Plencner, Molly Krager, Matthew B Johnson, Jacqueline M Walker, Christopher S Greeley, Matthew Hall
OBJECTIVES: To compare rates of previous inpatient visits among children hospitalized with child physical abuse (CPA) with controls as well as between individual abuse types. METHODS: In this study, we used the Pediatric Health Information System administrative database of 44 children's hospitals. Children <6 years of age hospitalized with CPA between January 1, 2011, and September 30, 2015, were identified by discharge codes and propensity matched to accidental injury controls...
January 25, 2018: Hospital Pediatrics
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#19
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29335082/-a-comparative-analysis-of-anti-n-methyl-d-aspartate-receptor-encephalitis-with-or-without-abnormal-findings-on-cranial-magnetic-resonance-imaging
#20
Jian-Zhao Zhang, Qian Chen, Ping Zheng, Li-Na Xie, Xiao-Li Yi, Hai-Tao Ren, Jian Yang
OBJECTIVE: To investigate the clinical features of children with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis with normal or abnormal cranial magnetic resonance imaging (MRI) findings via a comparative analysis. METHODS: A retrospective analysis was performed for the clinical data of 33 children with anti-NMDAR encephalitis. The clinical features and prognosis were compared between the children with normal and abnormal cranial MRI findings. RESULTS: In the 33 children with anti-NMDAR encephalitis, the most common initial symptoms were seizures (61%) and involuntary movement (61%), followed by language disorder (54%), mental and behavioral abnormalities (52%), and disturbance of consciousness (30%)...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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