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https://read.qxmd.com/read/30876730/post-traumatic-stress-and-major-depressive-disorders-in-parent-caregivers-of-children-with-a-chronic-disorder
#1
C Carmassi, M Corsi, C A Bertelloni, V Pedrinelli, G Massimetti, D G Peroni, A Bonuccelli, A Orsini, L Dell'Osso
Post-traumatic Stress Disorder (PTSD) and Major Depressive Disorder (MDD) are the most common psychiatric consequences among caregivers of pediatric patients affected by severe chronic illnesses. The aims of this study were to describe rates of PTSD and MDD in a sample of parents of epileptic children, and to examine the correlations between symptoms of post-traumatic stress and depression. Parents of children with epilepsy were enrolled and screened by means of the PTSD module of the Semi-Structured Clinical Interview for DSM-5 (SCID-5) and of the Hamilton Rating Scale for depression (HAM-D)...
March 13, 2019: Psychiatry Research
https://read.qxmd.com/read/30872555/tramadol-and-the-risk-of-seizure-nested-case-control-study-of-us-patients-with-employer-sponsored-health-benefits
#2
Richard L Morrow, Colin R Dormuth, Michael Paterson, Muhammad M Mamdani, Tara Gomes, David N Juurlink
OBJECTIVES: Tramadol is a widely prescribed analgesic that influences both opioid and monoamine neurotransmission. While seizures have been reported with its use, the risk in clinical practice has not been well characterised. We examined risk of seizure with tramadol relative to codeine, a comparable opioid analgesic. DESIGN: Retrospective nested case-control study. For each case, we identified up to 10 controls matched on age, sex, US state of residence and date of cohort entry (±365 days)...
March 13, 2019: BMJ Open
https://read.qxmd.com/read/30872163/alg13-deficiency-associated-with-increased-seizure-susceptibility-and-severity
#3
Peng Gao, Feng Wang, Junming Huo, Ding Wan, Jing Zhang, Jianguo Niu, Ji Wu, Baoli Yu, Tao Sun
ALG13 (asparagine-linked glycosylation 13 homolog) encodes a crucial protein involved in the process of N-linked glycosylation, and abnormal N-linked glycosylation is considered an important risk factor that leads to neurological deficits and disorders. However, the causal relationship between ALG13 and epilepsy remains unknown. This study applied a kainic acid (KA)-induced epileptic mouse model to determine whether ALG13 deficiency resulted in increased susceptibility to and severity of epileptic seizures...
March 11, 2019: Neuroscience
https://read.qxmd.com/read/30871237/epilepsy-disease-and-nose-to-brain-delivery-of-polymeric-nanoparticles-an-overview
#4
REVIEW
Teresa Musumeci, Angela Bonaccorso, Giovanni Puglisi
Epilepsy is the fourth most common global neurological problem, which can be considered a spectrum disorder because of its various causes, seizure types, its ability to vary in severity and the impact from person to person, as well as its range of co-existing conditions. The approaches to drug therapy of epilepsy are directed at the control of symptoms by chronic administration of antiepileptic drugs (AEDs). These AEDs are administered orally or intravenously but alternative routes of administration are needed to overcome some important limits...
March 13, 2019: Pharmaceutics
https://read.qxmd.com/read/30870385/severe-factor-x-deficiency-presenting-as-febrile-seizure-in-an-infant
#5
Meenal Garg, Mohammed Ramzan, Anand Kumawat, Jaikrishan Mittal, Satyendra Katewa, Piyush Gupta
Factor X deficiency is a severe inherited coagulation disorder, which is characterized by severe systemic bleeding manifestations in affected individuals. It is a rare disorder with a frequency of around 1:1,000,000 in the general population. We present the case of an infant with factor X deficiency who presented with complex febrile seizure. Although febrile seizures are very common in children, a closer scrutiny leads to neuroimaging and finding of intracranial bleed. Hematological and genetic investigations confirmed the diagnosis...
March 12, 2019: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/30868468/the-current-and-emerging-therapeutic-approaches-in-drug-resistant-epilepsy-management
#6
REVIEW
Amir Mehdizadeh, Mohammad Barzegar, Sohrab Negargar, Azita Yahyavi, Sina Raeisi
Epilepsy is a neurologic disorder consisting of recurrent spontaneous seizures. Antiepileptic drugs administration is the most commonly used therapeutic strategy in the management of epilepsy. However, 20-30% of epilepsy patients have seizure episodes that are not controlled by these medicines (drug-resistant epilepsy). The management of drug-resistant epilepsy, especially in the children, is challenging and can cause economic and social problems, and lower the patients' quality of life, cognition, and mood...
March 13, 2019: Acta Neurologica Belgica
https://read.qxmd.com/read/30868131/dietary-intervention-for-canine-epilepsy-two-case-reports
#7
Susan A Masino, Natalie R Freedgood, Hannah R Reichert, Chris J Director, Vicky H Whittemore, Beth Zupec-Kania
Epilepsy is a common neurologic disorder in humans and domesticated canines. In both species the etiology is diverse and complex, and even with medication a significant portion of the population does not experience sufficient seizure control and/or has unacceptable side effects. Humans often try alternatives such as dietary therapy or brain surgery, but in dogs, brain surgery is rarely an option and, despite potential benefits, there are no standard recommendations for a dietary approach. Herein we describe 2 retrospective case studies detailing the effects of homemade diets prepared for dogs with uncontrolled epileptic seizures and/or toxic side effects of medication...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30868118/the-experience-of-the-multidisciplinary-team-in-epilepsy-management-from-a-resource-limited-country
#8
Wei Li, Nanya Hao, Wenyu Liu, Dongmei An, Bo Yan, Jinmei Li, Ling Liu, Rong Luo, Heng Zhang, Ding Lei, Dong Zhou
Objective: The use of multidisciplinary teams (MDTs) is a global trend in disease management, while China is still at the exploratory stage MDTs. We aimed to summarize our experience and assess the impact of MDT use in managing patients with epilepsy and optimizing their seizure outcomes. Methods: Our MDT is staffed with skilled epileptologists, electroencephalography experts, neurosurgeons, child neurologists, radiologists, and psychiatrists. The MDT discussion has been carried out once or twice a week since 2013...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30868116/exome-sequencing-identifies-molecular-diagnosis-in-children-with-drug-resistant-epilepsy
#9
Mandy Ho-Yin Tsang, Gordon Ka-Chun Leung, Alvin Chi-Chung Ho, Kit-San Yeung, Christopher Chun-Yu Mak, Steven Lim-Cho Pei, Mullin Ho-Chung Yu, Anita Sik-Yau Kan, Kelvin Yuen-Kwong Chan, Karen Ling Kwong, So-Lun Lee, Ada Wing-Yan Yung, Cheuk-Wing Fung, Brian Hon-Yin Chung
Objective: Early onset drug-resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure-free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to identify the underlying genetic causes of a pediatric cohort with drug-resistant epilepsy and evaluate whether the findings can provide information on patient management. Methods: We include patients with drug-resistant epilepsy onset before 18 years of age...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30868115/functional-seizures-an-evaluation-of-the-attitudes-of-general-practitioners-local-to-a-tertiary-neuroscience-service-in-london
#10
Mahinda Yogarajah, Ruth Child, Niruj Agrawal, Sarah Cope, Mark Edwards, Marco Mula
Objective: Functional seizures are a common functional neurologic disorder. Given their chronic nature, and the biopsychosocial factors involved in their etiology, general practitioners (GPs) play a crucial role in the care of these patients. However, little is known about the attitudes of GPs toward, and knowledge of, functional seizures. Methods: The Atkinson Morley Regional Neuroscience Centre in London provides a comprehensive service to patients with functional seizures...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30868114/autism-spectrum-disorder-and-cognitive-profile-in-children-with-dravet-syndrome-delineation-of-a-specific-phenotype
#11
Lisa Ouss, Dorothee Leunen, Jacques Laschet, Nicole Chemaly, Giulia Barcia, Emma M Losito, Aveline Aouidad, Zoe Barrault, Isabelle Desguerre, Delphine Breuillard, Rima Nabbout
Objective: We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles. Methods: We included 35 patients with DS aged 24 months to 7 years, excluding patients with a developmental age (DA) <18 months (n = 5). We performed specific tests adapted for ID (Psychoeducational Profile, Third Edition [PEP-3]), in addition to the Child Development Inventory (CDI) and Vineland Adaptive Behavior Scales, Second Edition (VABS-II) questionnaires...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30868112/neonatal-seizures-is-there-a-relationship-between-ictal-electroclinical-features-and-etiology-a-critical-appraisal-based-on-a-systematic-literature-review
#12
REVIEW
Magda L Nunes, Elissa G Yozawitz, Sameer Zuberi, Eli M Mizrahi, Maria Roberta Cilio, Solomon L Moshé, Perrine Plouin, Sampsa Vanhatalo, Ronit M Pressler
The aim of this study was to evaluate whether specific etiologies of neonatal seizures have distinct ictal electroclinical features. A systematic review of English articles using the PubMed database since 2004 (last update 9/26/16). Search terms included text words and Medical Subject Headings (MeSH) terms related to neonatal seizures. Eligible articles included reports of neonates with seizures with a full description of seizure semiology and electroclinical findings. Independent extraction of data was performed by 2 authors using predefined data fields, including study quality indicators...
March 2019: Epilepsia open
https://read.qxmd.com/read/30867665/gitelman-syndrome-a-rare-cause-of-seizure-disorder-and-a-systematic-review
#13
Muhammad Asim Shahzad, Maryam Mukhtar, Asrar Ahmed, Waqas Ullah, Rehan Saeed, Mohsin Hamid
Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt losing tubulopathy. It is caused by tubular defects at the level of distal convoluted tubules, mimicking a thiazide-like tumor. It usually presents in late childhood or in teenage as nonspecific weakness, fatigability, polyuria, and polydipsia but very rarely with seizures. It is classically associated with hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, and hyperaldosteronism. However, less frequently, it can present with normal magnesium levels...
2019: Case Reports in Medicine
https://read.qxmd.com/read/30865078/depressive-symptom-severity-in-individuals-with-epilepsy-and-recent-health-complications
#14
Neha Kumar, Rigzin Lhatoo, Hongyan Liu, Kari Colon-Zimmermann, Curtis Tatsuoka, Peijun Chen, Mustafa Kahriman, Martha Sajatovic
Identifying relationships between depression severity and clinical factors may help with appropriate recognition and management of neuropsychiatric conditions in persons with epilepsy (PWE). Demographic characteristics, epilepsy variables, and medical and psychiatric comorbidities were examined from a baseline randomized controlled trial sample of 120 PWE. Among demographic characteristics, only inability to work was significantly associated with depression severity (p = 0.05). Higher 30-day seizure frequency (p < 0...
March 6, 2019: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/30863729/spontaneous-perforation-of-small-intestine-followed-by-rupture-of-the-cystic-artery-the-natural-history-of-vascular-ehlers-danlos-syndrome
#15
Christopher Antônio Febres-Aldana, Amilcar Antonio Castellano-Sanchez, John Alexis
Vascular Ehlers-Danlos Syndrome (VEDS) is a rare autosomal dominant disorder caused by mutations in the COL3A1 or COL1A1 genes. Its mortality is secondary to sudden and spontaneous rupture of arteries or hollow organs. The genotype influences the distribution of arterial pathology with aneurysms of intra-abdominal visceral arteries being relatively uncommon. We describe the case of a young man with probable VEDS who died of a spontaneous rupture and dissection of the cystic artery. The patient initially presented with abdominal pain due to an unrecognized spontaneous perforation of the small intestine complicated by sepsis...
January 2019: Autopsy & Case Reports
https://read.qxmd.com/read/30863356/role-of-dna-methylation-and-adenosine-in-ketogenic-diet-for-pharmacoresistant-epilepsy-focus-on-epileptogenesis-and-associated-comorbidities
#16
REVIEW
Fan Chen, Xinghui He, Guoming Luan, Tianfu Li
Epilepsy is a neurological disorder characterized by a long term propensity to produce unprovoked seizures and by the associated comorbidities including neurological, cognitive, psychiatric, and impairment the quality of life. Despite the clinic availability of several novel antiepileptic drugs (AEDs) with different mechanisms of action, more than one-third of patients with epilepsy suffer with pharmacoresistant epilepsy. Until now, no AEDs have been proven to confer the efficacy in alteration of disease progression or inhibition of the development of epilepsy...
2019: Frontiers in Neurology
https://read.qxmd.com/read/30858606/tbc1d24-regulates-axonal-outgrowth-and-membrane-trafficking-at-the-growth-cone-in-rodent-and-human-neurons
#17
Davide Aprile, Floriana Fruscione, Simona Baldassari, Manuela Fadda, Daniele Ferrante, Antonio Falace, Emmanuelle Buhler, Jacopo Sartorelli, Alfonso Represa, Pietro Baldelli, Fabio Benfenati, Federico Zara, Anna Fassio
Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes such as Deafness, Onycodystrophy, Osteodystrophy, Mental Retardation and Seizure (DOORS) syndrome. The product of TBC1D24 is a multifunctional protein involved in neuronal development, regulation of synaptic vesicle trafficking, and protection from oxidative stress. Although pathogenic mutations in TBC1D24 span the entire coding sequence, no clear genotype/phenotype correlations have emerged...
March 11, 2019: Cell Death and Differentiation
https://read.qxmd.com/read/30857487/perioperative-desmopressin-for-patients-undergoing-otolaryngologic-procedures-a-systematic-review
#18
Gregory L Barinsky, David Buziashvili, Peter F Svider, Michael A Carron, Adam J Folbe, Wayne D Hsueh, Jean Anderson Eloy, Andrew P Johnson
OBJECTIVE: Desmopressin (DDAVP) is a hemostatic agent used to manage bleeding in patients with hemostatic disorders, and there is a lack of published data to guide its use during otolaryngology procedures. The objective of this study was to conduct an evidence-based systematic review of the reported uses, efficacy, and adverse effects of DDAVP in the otolaryngology surgical setting. DATA SOURCES: PubMed, MEDLINE, and EmBase were searched for articles on the use of DDAVP in otolaryngology...
March 12, 2019: Otolaryngology—Head and Neck Surgery
https://read.qxmd.com/read/30857461/unusual-presentation-of-pmm2-congenital-disorder-of-glycosylation-with-isolated-strokelike-episodes-in-a-young-girl
#19
Rajni Farmania, Puneet Jain, Suvasini Sharma, Satinder Aneja
Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized by varied combinations of developmental delay, hypotonia, ataxia, dysmorphism, inverted nipples, and abnormal fat distribution. Strokelike episodes and seizures are known acute complications that usually occur on a background of developmental delay, ataxia, or dysmorphism...
March 11, 2019: Journal of Child Neurology
https://read.qxmd.com/read/30856420/historical-trend-toward-improved-long-term-outcome-in-childhood-absence-epilepsy
#20
Elliot Morse, Kathryn Giblin, Mi Hae Chung, Carolin Dohle, Anne T Berg, Hal Blumenfeld
We retrospectively analyzed published studies to investigate historical trends in outcome of childhood absence epilepsy (CAE). We included patients based on onset of absence seizures in childhood, 3 Hz bilateral spike-wave discharges on EEG, and availability of seizure-free outcome data. The primary endpoint was seizure-freedom off medications by study publication year. We also analyzed relationships between seizure-freedom and 1. treatment medication, and 2. CAE diagnostic criteria. We included 29 studies published 1945-2013, encompassing 2416 patients...
February 25, 2019: Epilepsy Research
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