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https://www.readbyqxmd.com/read/29153996/clinical-presentation-of-anti-n-methyl-d-aspartate-receptor-and-anti-voltage-gated-potassium-channel-complex-antibodies-in-children-a-series-of-24-cases
#1
Bahadir Konuskan, Mirac Yildirim, Haluk Topaloglu, Ilknur Erol, Ulkuhan Oztoprak, Huseyin Tan, Rahsan Gocmen, Banu Anlar
OBJECTIVE: The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features...
November 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29138035/defining-failed-induction-of-labor
#2
William A Grobman, Jennifer Bailit, Yinglei Lai, Uma M Reddy, Ronald J Wapner, Michael W Varner, John M Thorp, Kenneth J Leveno, Steve N Caritis, Mona Prasad, Alan T N Tita, George Saade, Yoram Sorokin, Dwight J Rouse, Sean C Blackwell, Jorge E Tolosa
BACKGROUND: While there are well-accepted standards for the diagnosis of arrested active-phase labor, the definition of a "failed" induction of labor remains less certain. One approach to diagnosing a failed induction is based on the duration of the latent phase. However, a standard for the minimum duration that the latent phase of a labor induction should continue, absent acute maternal or fetal indications for cesarean delivery, remains lacking. OBJECTIVE: The objective of this study was to determine the frequency of adverse maternal and perinatal outcomes as a function of the duration of the latent phase among nulliparous women undergoing labor induction...
November 11, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29127615/fungal-and-parasitic-cns-infections
#3
Pratibha Singhi, Arushi Gahlot Saini
Central nervous system fungal infections can be broadly divided into those that infect a healthy host such as Cryptococcus, Coccidioides, Histoplasma, Blastomyces, Sporothrix spp., and those that cause opportunistic infections in an immunocompromised host such as Candida, Aspergillus, Zygomycetes, Trichosporon spp. The clinical manifestations of central nervous system fungal infections commonly seen in children in clinical practice include a chronic meningitis or meningoencephalitis syndrome, brain abscess, rhino-cerebral syndrome and rarely, a fungal ventriculitis...
November 11, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29126702/delay-in-pediatric-epilepsy-surgery-a-caregiver-s-perspective
#4
Alice Shen, Kara T Quaid, Brenda E Porter
The timing of epilepsy surgery is complex, and there is not a structured pathway to help families decide whether to continue medical management or pursue surgical treatment. We surveyed caregivers of pediatric epilepsy surgery patients. Fifty-eight respondents answered the majority of questions. Thirty caregivers wished their child had undergone epilepsy surgery earlier compared with twenty who felt surgery was done at the appropriate time, and eight were unsure. In retrospect, caregivers who wished their child's surgery had been performed sooner had a significantly longer duration of epilepsy prior to the surgery [44...
November 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29119207/anesthesia-in-a%C3%A2-child-with-suspected-peroxisomal-disorder
#5
J S Englbrecht, M Maas
We present the case of an 8‑year-old female child with suspected peroxisomal disorder requiring general anesthesia for adenotomy, paracentesis and brainstem-evoked response audiometry. Peroxisomes are small intracellular organelles that catalyse key metabolic reactions. Peroxisomal disorders are a heterogeneous group of rare genetic diseases. Anesthesia can be challenging as adrenal insufficiency, mental retardation, muscle weakness, risk of pulmonary aspiration, airway complications, seizure disorders and altered pharmacokinetics and pharmacodynamics can occur in these patients but guidelines for anesthesia do not exist due to the heterogeneity and rarity of these diseases and case reports are rare...
November 8, 2017: Der Anaesthesist
https://www.readbyqxmd.com/read/29108913/development-and-content-validation-of-a-preliminary-core-set-of-patient-and-caregiver-relevant-outcomes-for-inclusion-in-a-potential-composite-endpoint-for-dravet-syndrome
#6
Rima Nabbout, Stephane Auvin, Catherine Chiron, John Irwin, Arun Mistry, Nicola Bonner, Nicola Williamson, Bryan Bennett
BACKGROUND: Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy characterized by multiple seizures, frequently prolonged and treatment refractory, with significant developmental disabilities and behavioral and psychiatric disorders. Patients with DS require intensive support and supervision from a caregiver, impacting significantly on both patients' and caregivers' lives. This study aimed to identify core concepts to measure the impact on both patients and caregivers in future DS clinical trials...
November 3, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29102350/prevalence-of-cerebral-palsy-in-uganda-a-population-based-study
#7
Angelina Kakooza-Mwesige, Carin Andrews, Stefan Peterson, Fred Wabwire Mangen, Ann Christin Eliasson, Hans Forssberg
BACKGROUND: Few population-based studies of cerebral palsy have been done in low-income and middle-income countries. We aimed to examine cerebral palsy prevalence and subtypes, functional impairments, and presumed time of injury in children in Uganda. METHODS: In this population-based study, we used a nested, three-stage, cross-sectional method (Iganga-Mayuge Health and Demographic Surveillance System [HDSS]) to screen for cerebral palsy in children aged 2-17 years in a rural eastern Uganda district...
October 25, 2017: Lancet Global Health
https://www.readbyqxmd.com/read/29095321/burden-of-seizure-clusters-on-patients-with-epilepsy-and-caregivers-survey-of-patient-caregiver-and-clinician-perspectives
#8
Patricia E Penovich, Janice Buelow, Kathy Steinberg, Joseph Sirven, James Wheless
OBJECTIVES: To characterize the burden of seizure clusters (SC) on patients and caregivers, a large internet-based survey was conducted. METHODS: The Seizure Cluster Burden of Illness US Survey was conducted online by Harris Poll on behalf of The Epilepsy Foundation in September 2014. Respondents included adult patients 18 years and above with epilepsy or a seizure disorder who had experienced SC in the past year (defined as ≥2 seizures within 24 h outside the patient's typical seizure pattern), caregivers providing current care for a patient with SC (adult or child), and clinicians (neurologists, epileptologists) who treat adult or pediatric patients...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29070031/17q23-2q23-3-de-novo-duplication-in-association-with-speech-and-language-disorder-learning-difficulties-incoordination-motor-skill-impairment-and-behavioral-disturbances-a-case-report
#9
Karen Wessel, Jehan Suleiman, Tamam E Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W El-Hattab
BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23...
October 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29069568/surgery-for-drug-resistant-epilepsy-in-children
#10
RANDOMIZED CONTROLLED TRIAL
Rekha Dwivedi, Bhargavi Ramanujam, P Sarat Chandra, Savita Sapra, Sheffali Gulati, Mani Kalaivani, Ajay Garg, Chandra S Bal, Madhavi Tripathi, Sada N Dwivedi, Rajesh Sagar, Chitra Sarkar, Manjari Tripathi
BACKGROUND: Neurosurgical treatment may improve seizures in children and adolescents with drug-resistant epilepsy, but additional data are needed from randomized trials. METHODS: In this single-center trial, we randomly assigned 116 patients who were 18 years of age or younger with drug-resistant epilepsy to undergo brain surgery appropriate to the underlying cause of epilepsy along with appropriate medical therapy (surgery group, 57 patients) or to receive medical therapy alone (medical-therapy group, 59 patients)...
October 26, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29055896/sifd-as-a-novel-cause-of-severe-fetal-hydrops-and-neonatal-anaemia-with-iron-loading-and-marked-extramedullary-haemopoiesis
#11
Chris Barton, Sabiha Kausar, Deborah Kerr, Stefania Bitetti, Rob Wynn
SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency, fevers and developmental delay, arising in mutations within the TRNT1 gene. Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever. In this report, we extend the described SIFD phenotype...
October 21, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29037447/a-quinidine-non-responsive-novel-kcnt1-mutation-in-an-indian-infant-with-epilepsy-of-infancy-with-migrating-focal-seizures
#12
Priyanka Madaan, Prashant Jauhari, Aparajita Gupta, Biswaroop Chakrabarty, Sheffali Gulati
Epilepsy of infancy with migrating focal seizures {a.k.a malignant migrating partial seizures of infancy (MMPSI)} is an uncommon epileptic encephalopathy with a poor prognosis. Migrating focal seizures with autonomic features, developmental stagnation and refractoriness to treatment are its key features. It is caused by genetic defects in various ion channels, most common being sodium activated potassium channel (KCNT1), found in up to 50% of cases. With advent of genetic diagnosis and precision medicine, many targeted therapies have been identified...
October 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/29026617/cerebral-vasculitis-and-intracranial-multiple-aneurysms-in-a-child-with-lyme-neuroborreliosis
#13
Elisa Kortela, Jukka Hytönen, Jussi Numminen, Margit Overmyer, Harri Saxen, Jarmo Oksi
Introduction. Lyme borreliosis is a multisystem tick-borne disease caused by Borrelia burgdorferi. Neurological manifestations are reported in up to 15 % of adult patients with Lyme disease, while the frequency among children is higher. The most common manifestations are painful radiculopathy, facial nerve paresis and lymphocytic meningitis. Epileptic seizures and cerebral vasculitis with stroke or aneurysms are very rare complications. Case presentation. We describe a paediatric patient with sensorineural auditory dysfunction, headache, fatigue and epileptic seizures as sequelae of meningoencephalitis/Lyme neuroborreliosis (LNB) caused by B...
April 2017: JMM Case Reports
https://www.readbyqxmd.com/read/29026562/developmental-progression-of-intellectual-disability-autism-and-epilepsy-in-a-child-with-an-iqsec2-gene-mutation
#14
Rachelle Zipper, Sherri D Baine, Jacob Genizi, Hen Maoz, Nina S Levy, Andrew P Levy
The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29019723/accidental-hanging-injuries-in-children-recognition-and-management
#15
Siba P Paul, Ruby Paul, Paul A Heaton
Accidental hanging is rare in childhood but is often fatal. Window blind cords pose a particular and unique risk to young children in the UK, accounting for one to two deaths annually. These accidents are frequently associated with non-adherence to the safety instructions provided by the manufacturers. Early discovery of the child and initiation of effective cardiopulmonary resuscitation at the site of the incident are likely to improve the outcome. Prolonged suspension, children who are pulseless at first contact by the emergency paramedic responder, and patients with prolonged periods of remaining in asystole before return of spontaneous circulation after starting cardiopulmonary resuscitation are unlikely to have intact neurological survival...
October 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/29018476/recurrent-and-prolonged-infections-in-a-child-with-a-homozygous-ifih1-nonsense-mutation
#16
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient's microcephaly, severe psychomotor retardation, seizures and cataracts. However, she additionally suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization, suggesting a secondary, predisposing and potentially Mendelian, condition...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28986982/eeg-for-children-with-complex-febrile-seizures
#17
REVIEW
Pankaj B Shah, Saji James, S Elayaraja
BACKGROUND: Febrile seizures can be classified as simple or complex. Complex febrile seizures are associated with fever that lasts longer than 15 minutes, occur more than once within 24 hours, and are confined to one side of the child's body. It is common in some countries for doctors to recommend an electroencephalograph (EEG) for children with complex febrile seizures. A limited evidence base is available to support the use of EEG and its timing after complex febrile seizures among children...
October 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28982711/sudden-death-after-febrile-seizure-case-report-cerebral-suppression-precedes-severe-bradycardia
#18
Kenneth A Myers, Robyn E McPherson, Robin Clegg, Jeffrey Buchhalter
A 20-month-old girl with a complex chromosomal disorder had first presentation of febrile status epilepticus and was admitted to the hospital. Two days after her initial seizure, she died suddenly and unexpectedly during a video EEG monitoring study. An advanced analysis of the physiologic changes in the hours and minutes leading up to death was undertaken. The electrocardiography over the last 19 minutes of life was reviewed, and the R-R intervals were manually measured. Heart rate variability was assessed through calculation of the SD of the R-R intervals and the root mean square of successive differences over successive 100 beat periods...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/28982531/parental-perception-of-comorbidities-in-children-with-dravet-syndrome
#19
Kelly G Knupp, Sharon Scarbro, Greta Wilkening, Elizabeth Juarez-Colunga, Allison Kempe, Amanda Dempsey
BACKGROUND: We hypothesized that children with Dravet syndrome may have additional common features beyond seizures and cognitive impairment. To address this gap in knowledge, we conducted a survey of caregivers of children with Dravet syndrome to identify and quantify their perception of associated symptoms in this population. METHODS: An electronic survey was developed in REDcap (Research Electronic Data Capture) and sent via e-mail to the participants on the Dravet Syndrome Foundation e-mail list...
June 20, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28982530/variability-in-preferred-management-of-electrographic-seizures-in-neonatal-hypoxic-ischemic-encephalopathy
#20
Melanie A McNally, Adam L Hartman
BACKGROUND: Seizures may cause added harm in neonates with hypoxic-ischemic encephalopathy (HIE). Specific recommendations about seizure treatment in this context are lacking. We sought to determine the scope of practice regarding management of non-status epilepticus electrographic-only seizures in this setting. METHODS: A case-based survey was distributed to members of the Child Neurology Society. Providers were asked about their preferred management strategy for sequential clinical scenarios...
June 15, 2017: Pediatric Neurology
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