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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28431367/clinical-characterization-of-the-pre-ictal-state-in-the-pediatric-population-a-caretaker-s-perspective
#2
Puja Patel, Victor Ferastraoaru, Dov Gold, Andrew Lipnick, Rana Jehle, Sheryl R Haut
The unpredictability of seizures causes distress to patients with epilepsy and their caretakers. To date, no studies have explored seizure prediction specifically in the pediatric population. If the period of time preceding a seizure can be reliably identified, either by child or caretaker, there may be a role for pre-emptive interventions. The aim of this study was to investigate caretaker seizure prediction. A questionnaire was distributed to caretakers of patients with epilepsy. The patients were 0-21years old and experienced ≥1 seizure within the past year...
April 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28427021/risk-factors-for-learning-problems-in-youth-with-psychogenic-non-epileptic-seizures
#3
Julia Doss, Rochelle Caplan, Prabha Siddarth, Brenda Bursch, Tatiana Falcone, Marcy Forgey, Kyle Hinman, W Curt LaFrance, Rebecca Laptook, Richard Shaw, Deborah Weisbrot, Matthew Willis, Sigita Plioplys
OBJECTIVES: This study examined the risk factors for learning problems (LP) in pediatric psychogenic non-epileptic seizures (PNES) and their specificity by comparing psychopathology, medical, cognitive/linguistic/achievement, bullying history, and parent education variables between subjects with PNES with and without LP and between subjects with PNES and siblings with LP. METHODS: 55 subjects with PNES and 35 siblings, aged 8-18years, underwent cognitive, linguistic, and achievement testing, and completed somatization and anxiety sensitivity questionnaires...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28425236/predictors-of-health-related-quality-of-life-in-childhood-epilepsy-and-comparison-with-healthy-children-findings-from-an-indian-study
#4
Dipika Bansal, Chandrika Azad, Kapil Gudala, Anil Dasari
BACKGROUND/AIM: Children with epilepsy have reduced health-related quality of life (HRQOL) due to disease and medications. We aimed to assess child-reported HRQOL in Indian children with epilepsy and compare it with that in healthy children. MATERIALS AND METHODS: A cross-sectional study of 256 children with epilepsy aged between 5 and 18 years on antiepileptic drug (AED) treatment for at least 3 months was performed and 125 age and sex matched healthy children were included...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#5
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28419635/canine-histiocytic-sarcoma-presenting-as-a-target-lesion-on-brain-magnetic-resonance-imaging-and-as-a-solitary-pulmonary-mass
#6
Jill Hicks, Renee Barber, Bronwen Childs, Shannon Gm Kirejczyk, Elizabeth W Uhl
A 6-year-old spayed female miniature schnauzer presented with generalized seizures and progressive multifocal intracranial neurologic disease. Thoracic radiographs and computed tomography (CT) revealed a large solitary pulmonary mass within the right cranial lung lobe. On brain magnetic resonance imaging (MRI), a solitary intraparenchymal mass within the left piriform lobe had a "target" appearance on both pre- and postcontrast sequences. Cerebrospinal fluid was unremarkable and histopathology indicated both masses represented histiocytic sarcoma...
April 17, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#7
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28416250/therapeutic-hypothermia-for-neonates-with-hypoxic-ischemic-encephalopathy
#8
REVIEW
Ming-Chou Chiang, Yuh-Jyh Jong, Chyi-Her Lin
Therapeutic hypothermia (TH) is a recommended regimen for newborn infants who are at or near term with evolving moderate-to-severe hypoxic ischemic encephalopathy (HIE). The Task Force of the Taiwan Child Neurology Society and the Taiwan Society of Neonatology held a joint meeting in 2015 to establish recommendations for using TH on newborn patients with HIE. Based on current evidence and experts' experiences, this review article summarizes the key points and recommendations regarding TH for newborns with HIE, including: (1) selection criteria for TH; (2) choices of method and equipment for TH; (3) TH prior to and during transport; (4) methods for temperature maintenance, monitoring, and rewarming; (5) systemic care of patients during TH, including the care of respiratory and cardiovascular systems, management of fluids, electrolytes, and nutrition, as well as sedation and drug metabolism; (6) monitoring and management of seizures; (7) neuroimaging, prognostic factors, and outcomes; and (8) adjuvant therapy for TH...
March 27, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28413543/primary-intracranial-choriocarcinoma-presenting-as-a-ring-enhancing-lesion-a-case-report-and-review-of-literature
#9
Mayur Sharma, Vernon Velho, Rachana Binayake, Chandranath Tiwari
We report here a rare case of primary intracranial choriocarcinoma without evidence of tumor elsewhere, presenting as a ring-enhancing lesion managed successfully in our institute (Grant Medical College and Sir J. J. Group of Hospitals, Mumbai, Maharashtra, India). A 22-year-old, right-handed housewife presented with complaints of headache, vomiting, generalized tonic-clonic seizures, and right upper limb weakness of short duration. On neurological examination, the patient was conscious, cooperative, well-oriented in time, place, and person...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28408236/unintentional-pediatric-cocaine-exposures-result-in-worse-outcomes-than-other-unintentional-pediatric-poisonings
#10
Patil Armenian, Michelle Fleurat, George Mittendorf, Kent R Olson
BACKGROUND: Unintentional pediatric cocaine exposures are rare but concerning due to potentially serious complications such as seizures, dysrhythmias, and death. OBJECTIVES: The objectives were to assess the demographic and clinical characteristics of pediatric cocaine exposures reported to the California Poison Control System. METHODS: This is a retrospective study of all confirmed pediatric (< 6 years of age) cocaine exposures reported to the California Poison Control System from January 1, 1997-September 30, 2010...
April 10, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28407444/familial-18q12-2-deletion-supports-the-role-of-rna-binding-protein-celf4-in-autism-spectrum-disorders
#11
Rita Barone, Marco Fichera, Mariaclara De Grandi, Marta Battaglia, Valeria Lo Faro, Teresa Mattina, Renata Rizzo
Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty-two patients have been described with overlapping neurobehavioral disturbances including developmental delay, intellectual disability of variable degree, seizures, motor coordination disorder, behavioral/emotional disturbances, and autism spectrum disorders. The CUGBP Elav-like family member 4 (CELF4) gene at 18q12.2 encodes a RNA-binding protein that links to RNA subsets involved in pre- and postsynaptic neurotransmission including almost 30% of potential autism-related genes...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28395677/tuberous-sclerosis-complex-in-the-western-cape-south-africa-the-clinical-presentation-features
#12
E Kija, B Schlegel, P Samia, M Wessels, J M Wilmshurst
Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures...
March 29, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28391250/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy
#13
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt, Pasquale Striano, Martina Baethmann, Stella Maria Vari, Francesca Beccaria, Federico Zara, Lisa M Crowther, Pascal Joset, Heinrich Sticht, Sorina Mihaela Papuc, Anita Rauch
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. We identified four further unrelated patients harbouring a total of six different mutations, including four novel disease mutations. Vitamin B6 plasma profiles on pyridoxine did not enable the differentiation of patients with PROSC mutations...
April 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#14
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
April 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28373809/a-child-with-kabuki-syndrome-and-autism-spectrum-disorder
#15
Mehmet Sertçelik, Çağatay Uğur, Aynur Şahin Aközel, Cihat Kağan Gürkan
Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28366665/the-phe932ile-mutation-in-kcnt1-channels-associated-with-severe-epilepsy-delayed-myelination-and-leukoencephalopathy-produces-a-loss-of-function-channel-phenotype
#16
Katherine M Evely, Kerri D Pryce, Arin Bhattacharjee
Sodium-activated potassium (KNa) channels contribute to firing frequency adaptation and slow after hyperpolarization. The KCNT1 gene (also known as SLACK) encodes a KNa subunit that is expressed throughout the central and peripheral nervous systems. Missense mutations of the SLACK C-terminus have been reported in several patients with rare forms of early onset epilepsy and in some cases severely delayed myelination. To date, such mutations identified in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), epilepsy of infancy with migrating focal seizures (EIMFS) and Ohtahara syndrome (OS) have been reported to be gain-of-function mutations (Villa and Combi, 2016)...
March 31, 2017: Neuroscience
https://www.readbyqxmd.com/read/28349773/epileptic-encephalopathies
#17
Blair Germain, Bernard L Maria
Epileptic encephalopathies encompass a heterogeneous group of epilepsy syndromes that manifest with cognitive, behavioral, and neurologic deficits, seizures that are often intractable and multiform, aggressive electroencephalographic paroxysmal activity, and sometimes early death. As more is learned about the etiologies and manifestations of epileptic encephalopathies, progress has been made toward better treatment options. However, there is still a great need for further randomized controlled trials and research to help create clinically effective therapies...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28336122/familial-acute-necrotizing-encephalopathy-with-ranbp2-mutation-the-first-report-in-northeast-asia
#18
Yun-Jeong Lee, Su-Kyeong Hwang, So Mi Lee, Soonhak Kwon
BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation...
March 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28328233/long-term-neurodevelopmental-outcome-of-neonates-with-hypernatremic-dehydration
#19
Hassan Boskabadi, Javad Akhondian, Maliheh Afarideh, Gholamali Maamouri, Sepideh Bagheri, Seyyed Mostafa Parizadeh, Majid Ghayour Mobarhan, Shabnam Mohammadi, Gordon A A Frens
BACKGROUND: Neonatal hypernatremic dehydration (NHD) is a dangerous condition that can lead to severe weight loss, renal impairment, and central nervous system complications. We aimed to evaluate the consequences of NHD in infants in their second year of life. MATERIALS AND METHODS: This was a prospective case-control study in Ghaem hospital, Mashhad, Iran. Sixty-five healthy breastfed neonates (serum sodium concentration <150 mmol/L) and 65 hypernatremic (serum sodium concentration ≥150 mmol/L) neonates were followed up from 2008 to 2011...
April 2017: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#20
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms. Epileptic spasms were observed in patients with ALG1-, ALG6, ALG11-CDG and CDG-Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
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