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https://www.readbyqxmd.com/read/28641166/care-coordination-at-a-pediatric-accountable-care-organization-aco-a-qualitative-analysis
#1
Baria Hafeez, Sophia Miller, Anup D Patel, Zachary M Grinspan
OBJECTIVE: Care coordinators may help manage care for children with chronic illness. Their role in pediatric epilepsy care is understudied. We aimed to qualitatively describe the content of a care coordination intervention for children with epilepsy. METHODS: We conducted nine semi-structured interviews and one focus group with care coordinators at a pediatric accountable care organization (ACO) in Ohio. The care coordinators used a modified version of a published care coordination checklist for children with epilepsy (Patel AD, 2014)...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#2
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#3
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28620564/moyamoya-syndrome-in-a-child-with-neurofibromatosis-type-1-magnetic-resonance-imaging-as-a-tool-for-clinical-decision-making
#4
Jonathan Mayl, Hanisha Patel, Tushar Chandra
Moyamoya syndrome is a rare cerebrovasculopathy of unknown etiology which is associated with multiple risk factors. Moyamoya was first discovered in Japan and is reported to have an increased prevalence in the Japanese population. The term "Moyamoya" translates into "puff of smoke" and is named after the finding of the collateral cerebral vasculature that develops secondary to occlusion of an internal carotid artery at the entrance into the circle of Willis. This collateral vasculature characterizes the disease...
May 9, 2017: Curēus
https://www.readbyqxmd.com/read/28615945/ictal-blinking-an-under-recognized-phenomenon-our-experience-and-literature-review
#5
Marco Andrea Nicola Saporito, Giovanna Vitaliti, Piero Pavone, Giuseppa Di Stefano, Pasquale Striano, Roberto Horacio Caraballo, Raffaele Falsaperla
Ictal blinking (IB) is a very rare disease manifesting as an epileptic motor event in children and adults. Until now it has not been included in any classification of focal seizures of the International League Against Epilepsy Commission. It could be unilateral or bilateral, isolated or in association with other motor manifestations such as limbs' clonus and spasms. Its pathogenesis has not been clearly established: paroxysmal discharges from different areas of the brain could cause IB by activation of trigeminal fibers...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28612338/nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#6
REVIEW
Suma Uday, Wolfgang Högler
PURPOSE OF REVIEW: Nutritional rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research...
June 13, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28607820/incidental-choroid-plexus-papilloma-in-a-child-a-difficult-decision
#7
Avra S Laarakker, Jonathan Nakhla, Andrew Kobets, Rick Abbott
BACKGROUND: Choroid plexus tumors (CPT) in the pediatric population are usually discovered in symptomatic patients often with symptoms of increased intracranial pressure, with hydrocephalus as the most common presentation, along with seizures, subarachnoid hemorrhage, or focal neurological deficit. Most CPTs are found to be benign choroid plexus papillomas (CPP), whereas a small number are intermediate and malignant choroid plexus carcinomas (CPC). Total surgical resection is the established definitive treatment for symptomatic CPP...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28603689/spiders-ladybugs-and-bees-a-case-of-unusual-sensations-in-a-child-with-cingulate-epilepsy
#8
Robyn Whitney, Sameer AlMehmadi, Cristina Go, Ayako Ochi, Hiroshi Otsubo, Laura Bradbury, Kevin Jones, Eisha Christian, James Rutka, Bláthnaid McCoy
Cingulate epilepsy is a rare form of epilepsy. Seizures from the anterior cingulate may present with mood change, fear, hypermotor activity, and autonomic signs, while posterior cingulate seizures resemble temporal lobe seizures. We describe a child with cingulate epilepsy who experienced unpleasant/painful sensory phenomenon. The sensations were described as spiders crawling on his forehead/right leg, ladybugs causing right ear pain and bees stinging his head/right extremities. Unpleasant sensory phenomenon/pain are rarely reported in cingulate epilepsy...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#9
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28600632/dynamic-complexity-measures-and-entropy-paths-for-modelling-and-comparison-of-evolution-of-patients-with-drug-resistant-epileptic-encephalopathy-syndromes-drees
#10
Ricardo Zavala-Yoe, Ricardo A Ramirez-Mendoza
Epileptic encephalopathies (EE) is a term coined by the International League Against Epilepsy (ILAE) to refer to a group of epilepsies in which the ictal and interictal abnormalities may contribute to progressive cerebral dysfunction. Among them, two affect mainly children and are very difficult to deal with, Doose and Lennox-Gastaut syndromes, (DS and LGS, respectively). So far (Zavala-Yoe et al., J Integr Neurosci 15(2):205-223, 2015a and works of ours there), quantitative analysis of single case studies of EE have been performed...
June 9, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#11
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28575381/rebellious-behaviors-in-adolescents-with-epilepsy
#12
Aimee W Smith, Constance Mara, Shannon Ollier, Angela Combs, Avani C Modi
The study aims are to (1) examine the prevalence of risk-taking (i.e., behaviors that can be categorized as rebellious or reckless) and (2) determine the influence of risk-taking on adherence, seizures, and health-related quality of life (HRQOL) in adolescents with epilepsy. An exploratory aim was to identify predictors of risk-taking. Fifty-four adolescents with epilepsy ( M  = 15.33 ± 1.46 years) and caregivers completed questionnaires on demographics, risk-taking, parent-child relations, adolescent inattention/hyperactivity, and HRQOL at four time points across 1 year...
May 30, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/28566195/parenting-stress-in-parents-of-children-with-refractory-epilepsy-before-and-after-vagus-nerve-stimulation-implantation
#13
Sung-Tse Li, Nan-Chang Chiu, Yung-Ting Kuo, Ein-Yiao Shen, Pei-Chieh Tsai, Che-Sheng Ho, Wen-Hsiang Wu, Juei-Chao Chen
OBJECTIVES: The purpose of this study was to evaluate parenting stress in parents of children with refractory epilepsy before and after their children received vagus nerve stimulation (VNS) implantation. METHODS: Parents of children with refractory epilepsy completed the Parenting Stress Index (PSI) under a psychologist's assessment before and at least 12 months after their children received VNS implantation. The PSI questionnaire measures parenting stress in two domains; a parent domain with seven subscales, and a child domain with six...
May 17, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28561263/providing-teachers-with-education-on-epilepsy-increased-their-willingness-to-handle-acute-seizures-in-children-from-1-10-years-of-age
#14
Henriette Karoline Dumeier, Martina Patrizia Neininger, Matthias Karl Bernhard, Andreas Merkenschlager, Wieland Kiess, Thilo Bertsche, Astrid Bertsche
AIM: In Germany, preschool teachers supervise children up to six years of age and are also responsible for supervising older pupils after school. This study explored the impact of a teaching session on epilepsy for teachers in charge of children from 1-10 years of age. METHODS: We evaluated the benefit of a teaching session offered to all preschool teachers in Leipzig, Germany, in 2014-2015, by asking them to complete the same questionnaire 12-24 months pre-intervention, and 12 months post-intervention...
May 31, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28553395/retrograde-partial-migration-of-ventriculoperitoneal-shunt-with-chamber-review-of-causative-factors-and-its-prevention
#15
Harsha A Huliyappa, Manish Jaiswal, Sunil K Singh, Balakrishna Ojha, Anil Chandra, Srivastava Chhitij
Distal migration of shunt is a very common occurrence. Proximal migration of shunt is rare and possible pathophysiological mechanisms to explain this unusual complication is rarely attempted. A 5-month-old child shunted for posttraumatic hydrocephalus presented 1.5 years later with raised intracranial pressure and seizures. Imaging showed subdural hygroma, partial intracranial migration of shunt/chamber. On endoscopy, choroid plexus was adherent to shunt tip and some pericranial tissue was found in the anchoring suture (intraventricularly displaced)...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553389/sandhoff-disease-without-hepatosplenomegaly-due-to-hexosaminidase-b-gene-mutation
#16
Vykuntaraju K Gowda, Raghavendraswami Amoghimath, Varun M Srinivasan, Maya Bhat
Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff disease revealed a homozygous missense variant on HEXB gene. The case is presented to highlight that the absence of hepatosplenomegaly should not restrain in suspecting Sandhoff disease...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553372/clinical-spectrum-comorbidities-and-risk-factor-profile-of-cerebral-palsy-children-a-prospective-study
#17
Priyanka Minocha, Sadasivan Sitaraman, Pallavi Sachdeva
AIM AND OBJECTIVE: Cerebral palsy (CP) is the most common motor disability in childhood. This study aimed to describe clinical spectrum, comorbidities, and risk factors associated with CP children. MATERIALS AND METHODS: This hospital-based observational study was conducted in tertiary level hospital in Jaipur including 180 CP children aged 1-12 years, attending the Paediatric Neurology Outdoor and Child Development Centre. A detailed history of antenatal, natal, and postnatal events taken and thorough examination was performed to stratify children in proper topographical and physiological classification...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28549578/pediatric-out-of-hospital-cardiac-arrest-caused-by-left-coronary-artery-agenesis-with-primary-shockable-rhythm-a-brief-report
#18
Moritz Weigeldt, Sabine Lahmann, Konstantin Krieger, Sebastian Buttenberg, Volker Stephan, Brigitte Stiller, Dirk Stengel
BACKGROUND: To illustrate a rare cause of out-of-hospital cardiac arrest in children, its differential diagnoses, emergency and subsequent treatment at various steps in the rescue chain, and potential outcomes. CASE PRESENTATION: A 4-year-old boy with unknown agenesis of the left coronary ostium sustained out-of-hospital cardiac arrest. Bystander cardio-pulmonary resuscitation was initiated and defibrillation was performed via an automated external defibrillator (AED) shortly after paramedics arrived at the scene, restoring sinus rhythm and spontaneous circulation...
May 11, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28542837/phenotype-and-natural-history-of-variant-late-infantile-ceroid-lipofuscinosis-5
#19
Alessandro Simonati, Ruth E Williams, Nardo Nardocci, Minna Laine, Roberta Battini, Angela Schulz, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course. All patients underwent mutation analysis of the CLN5 gene and ultrastructural investigations of peripheral tissues...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28506504/anti-n-methyl-d-aspartate-receptor-encephalitis-appearing-as-a-new-onset-psychosis-disease-course-in-children-and-adolescents-within-the-california-encephalitis-project
#20
Mary Gable, Carol Glaser
BACKGROUND: Given that psychiatric symptoms are common, not only during the course of the illness but also on presentation, in children and adolescents with anti-N-methyl-d-aspartate receptor encephalitis, it is important that practitioners possess an adequate understanding of the clinical features and potential treatment of this disease. We describe the clinical characteristics of 24 patients who presented to the California Encephalitis Project. METHODS: Patients were referred by physicians, and standardized forms were used to gather demographic, clinical, and laboratory data...
July 2017: Pediatric Neurology
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