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https://www.readbyqxmd.com/read/28944696/suicidal-bupropion-ingestions-in-adolescents-increased-morbidity-compared-with-other-antidepressants
#1
David C Sheridan, Amber Lin, B Zane Horowitz
OBJECTIVE: Bupropion is often categorized as a newer generation antidepressant and assessed with serotonin reuptake inhibitors as a lower risk than older tricyclic antidepressants (TCAs). The objective of this study was to compare outcomes in adolescent suicide from ingestions between bupropion and TCA medications. STUDY DESIGN: An analysis of the National Poison Data System for exposures coded "suspected suicide" in adolescents (age: 13-19) was undertaken for the years 2013-2016 and included TCAs or bupropion...
September 25, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28944577/de-novo-mutations-in-hnrnpu-result-in-a-neurodevelopmental-syndrome
#2
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, Deirdre E Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian
Exome sequencing in the context of developmental disorders is a useful technique, but variants found need to be interpreted in the context of detailed phenotypic information. Whole gene deletions and loss-of-function-mutations in the HNRNPU gene have been associated with intellectual disability and seizures in some patients. However, a unifying syndromic phenotype has not been previously elucidated. Here, we report a total of seven patients (six patients identified through the Wellcome Trust Deciphering Developmental Disorders study, with one additional patient), who have heterozygous de novo mutations in HNRNPU...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944533/parents-spend-an-average-of-nine-hours-a-day-providing-palliative-care-for-children-at-home-and-need-to-maintain-an-average-of-five-life-saving-devices
#3
P Lazzarin, B Schiavon, L Brugnaro, F Benini
AIM: This Italian study investigated home-based palliative care for young children and how long it took parents to meet their needs. METHODS: The study population consisted of 33 families with a child under the responsibility of the Veneto Regional Center for Pediatric Palliative Care, northern Italy, who needed medical support in at least two of the following areas: respiratory, feeding, pain and seizures. RESULTS: The children had a mean age of 6...
September 25, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28944447/serotonin-reuptake-inhibitors-and-mortality-in-epilepsy-a-linked-primary-care-cohort-study
#4
Colin B Josephson, Arturo Gonzalez-Izquierdo, Spiros Denaxas, Natalie K Fitzpatrick, Tolulope T Sajobi, Jordan D T Engbers, Scott Patten, Nathalie Jette, Samuel Wiebe
OBJECTIVE: Preliminary evidence suggests that serotonin reuptake inhibitor (SRI) use may increase postictal respiratory drive and prevent death. We sought to determine whether SRIs are associated with improved all-cause and possible seizure-specific mortality in patients with epilepsy. METHODS: Patients with epilepsy and a random 10:1 sample without epilepsy were extracted from The ClinicAl research using LInked Bespoke studies and Electronic health Records (CALIBER) resource...
September 24, 2017: Epilepsia
https://www.readbyqxmd.com/read/28944240/novel-compound-heterozygous-mutations-in-telo2-in-a-patient-with-severe-expression-of-you-hoover-fong-syndrome
#5
Shahida Moosa, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, Bernd Wollnik
BACKGROUND: Very recently, compound heterozygous loss-of-function mutations in TELO2 were shown to underlie the newly-described You-Hoover-Fong syndrome. TELO2 forms part of the co-chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944233/protein-structure-and-phenotypic-analysis-of-pathogenic-and-population-missense-variants-in-stxbp1
#6
Mohnish Suri, Jochem M G Evers, Roman A Laskowski, Sinead O'Brien, Kate Baker, Jill Clayton-Smith, Tabib Dabir, Dragana Josifova, Shelagh Joss, Bronwyn Kerr, Alison Kraus, Meriel McEntagart, Jenny Morton, Audrey Smith, Miranda Splitt, Janet M Thornton, Caroline F Wright
BACKGROUND: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane. Studies have shown that pathogenic loss-of-function variants in this gene result in various types of epilepsies, mostly beginning early in life. We were interested to model pathogenic missense variants on the protein structure to investigate the mechanism of pathogenicity and genotype-phenotype correlations. METHODS: We report 11 patients with pathogenic de novo mutations in STXBP1 identified in the first 4293 trios of the Deciphering Developmental Disorder (DDD) study, including six missense variants...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28943940/leptomeningeal-metastasis-of-pulmonary-large-cell-neuroendocrine-carcinoma-a-case-report-and-review-of-the-literature
#7
Guozi Yang, Zhenyu Pan, Ning Ma, Limei Qu, Tingting Yuan, Xiaochuan Pang, Xu Yang, Lihua Dong, Shixin Liu
Pulmonary large-cell neuroendocrine carcinoma (LCNEC) is a rare and malignant form of lung cancer with a poor prognosis for patients. The common sites of metastases are the liver, adrenal glands, bone and brain. LCNEC rarely metastasizes to the small intestine, ovaries, tonsils, mandible, vulva or spine. To the best of our knowledge, there have been no reports of leptomeningeal metastasis of LCNEC to date. The present case report describes an unusual case of leptomeningeal metastasis from pulmonary LCNEC alongside a review of the literature...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943860/bumetanide-as-a-candidate-treatment-for-behavioral-problems-in-tuberous-sclerosis-complex
#8
Chantal Vlaskamp, Simon-Shlomo Poil, Floor Jansen, Klaus Linkenkaer-Hansen, Sarah Durston, Bob Oranje, Hilgo Bruining
BACKGROUND: Recent studies indicate excitatory GABA action in and around tubers in patients with tuberous sclerosis complex (TSC). This may contribute to recurrent seizures and behavioral problems that may be treated by agents that enhance GABAergic transmission by influencing chloride regulation. CASE PRESENTATION: Here, we used the chloride transporter antagonist bumetanide to treat a female adolescent TSC patient with refractory seizures, sensory hyper-reactivity, and a variety of repetitive and compulsive behaviors...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28943819/evaluation-of-safety-in-exceeding-maximum-adult-doses-of-commonly-used-second-generation-antiepileptic-drugs-in-pediatric-patients
#9
Mindl M Messinger, Sunita N Misra, Gary D Clark, Shannon M DiCarlo
OBJECTIVE: Pediatric patients often require larger doses of antiepileptic drug (AED) than adults in order to attain therapeutic serum concentrations and/or achieve seizure control. Safety and efficacy data are often extrapolated from adult literature; hence, optimal dosage may only be determined anecdotally or based on expert opinion. With limited pediatric dosing guidelines, milligrams per day that are based on weight may exceed the maximum adult dose. The primary objective of this study is to evaluate the safety of exceeding maximum doses as specified by the US Food and Drug Administration or manufacturers of commonly used AEDs in pediatric patients...
July 2017: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/28943417/giant-cell-ependymoma-of-the-lateral-ventricle-case-report-literature-review-and-analysis-of-prognostic-factors-and-genetic-profile
#10
Hirokazu Takami, Christopher Graffeo, Avital Perry, Aditya Raghunathan, Robert B Jenkins, Caterina Giannini, Terry C Burns
Giant cell ependymoma (GCE) is a rare primary CNS neoplasm. We report a case of GCE arising in the lateral ventricle. A 22-year-old female presented with generalized seizures. MRI demonstrated a diffuse, non-enhancing, multi-cystic mass centered in the atrium of the right lateral ventricle with extension throughout the frontal and temporal horns. An initial subtotal resection yielded the signature biphasic pattern of GCE. The dominant component contained pleomorphic, bizarre-appearing giant cells with low mitotic index, and a minor component comprised monomorphic, highly cellular, mitotically active cells that formed perivascular pseudorosettes...
September 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28943291/antidepressant-anticonvulsant-and-antinociceptive-effects-of-3-methoxy-6-methylflavone-and-3-hydroxy-6-methylflavone-may-involve-gabaergic-mechanisms
#11
Nasiara Karim, Imran Khan, Naveed Ahmad, Muhammad Naveed Umar, Navnath Gavande
BACKGROUND: GABAA receptors have been implicated in the pathophysiology of depression, epilepsy and pain disorders. The purpose of this study was to investigate two novel synthetic flavones, 3'-methoxy-6-methylflavone (3'-MeO6MF) and 3'-hydroxy-6-methylflavone (3'-OH6MF), for their effect on GABAA receptors and subsequently investigate their antidepressant, anticonvulsant and antinociceptive effects. METHODS: Recombinant GABAA receptor subunits were expressed in Xenopus oocytes and a two electrode voltage clamp technique was used for electrophysiological studies...
March 10, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/28943283/step-inhibition-reverses-behavioral-electrophysiologic-and-synaptic-abnormalities-in-fmr1-ko-mice
#12
Manavi Chatterjee, Pradeep K Kurup, Camilla J Lundbye, Anna Karina Hugger Toft, Jeemin Kwon, Jessie Benedict, Marija Kamceva, Tue G Banke, Paul J Lombroso
Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability, with additional symptoms including attention deficit and hyperactivity, anxiety, impulsivity, and repetitive movements or actions. The majority of FXS cases are attributed to a CGG expansion that leads to transcriptional silencing and diminished expression of fragile X mental retardation protein (FMRP). FMRP, an RNA binding protein, regulates the synthesis of dendritically-translated mRNAs by stalling ribosomal translation. Loss of FMRP leads to increased translation of some of these mRNAs, including the CNS-specific tyrosine phosphatase STEP (STriatal-Enriched protein tyrosine Phosphatase)...
September 21, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28943082/nutritional-rickets-in-taiwanese-children-experiences-at-a-single-center
#13
Li-Hsin Chuang, Yi-Ching Tung, Shih-Yao Liu, Cheng-Ting Lee, Huey-Ling Chen, Wen-Yu Tsai
BACKGROUND/PURPOSE: The number of children with nutritional rickets in Taiwan has increased over the last decade. The aim of this study was to present our experiences in the management of patients with this condition. PATIENTS AND METHODS: From 2011 to 2016, 10 children (3 boys and 7 girls) with nutritional rickets were enrolled in this study. Their clinical and biochemical data were analyzed. RESULTS: The median age of the 10 patients was 21 months (range, 12-25 months)...
September 21, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28942967/de-novo-mutations-in-ppp3ca-cause-severe-neurodevelopmental-disease-with-seizures
#14
Candace T Myers, Nicholas Stong, Emily I Mountier, Katherine L Helbig, Saskia Freytag, Joseph E Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N Shinde, Arezoo Rezazadeh, Brigid M Regan, Karen L Oliver, Michelle E Ernst, Natalie C Lippa, Maureen S Mulhern, Zhong Ren, Annapurna Poduri, Danielle M Andrade, Lynne M Bird, Melanie Bahlo, Samuel F Berkovic, Daniel H Lowenstein, Ingrid E Scheffer, Lynette G Sadleir, David B Goldstein, Heather C Mefford, Erin L Heinzen
Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de novo, mutations play a significant role in disease risk. Despite significant progress, the high genetic heterogeneity of these disorders often requires large sample sizes to identify a critical mass of individuals with disease-causing mutations in a single gene...
September 15, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28942717/composite-neonatal-and-maternal-morbidities-with-small-versus-appropriate-for-gestational-age-among-uncomplicated-obese-women-undergoing-repeat-cesarean-delivery
#15
Ziad A Haidar, Oscar A Viteri, Susan Hosseini Nasab, Hind N Moussa, Baha M Sibai, Janice E Whitty
PURPOSE: Our goal was to compare composite neonatal and maternal morbidities (composite neonatal morbidity (CNM), composite maternal morbidity (CMM)) among deliveries with small for age (SGA) versus appropriate for gestational age (AGA; birthweight 10-89%) among obese versus nonobese women undergoing repeat cesarean delivery (CD). STUDY DESIGN: This is a secondary analysis of a prospective observational study. Women who had elective CD ≥ 37 weeks were studied...
September 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28942448/antagomirs-targeting-microrna-134-increase-limk1-levels-after-experimental-seizures-in-vitro-and-in-vivo
#16
Jiahang Sun, Xiaoying Gao, Dawei Meng, Yang Xu, Xichun Wang, Xin Gu, Mian Guo, Xiaodong Shao, Hongwen Yan, Chuanlu Jiang, Yongri Zheng
BACKGROUND: MiR-134 is enriched in dendrites of hippocampal neurons and plays crucial roles in the progress of epilepsy. The present study aims to investigate the effects of antagomirs targeting miroRNA-134 (Ant-134) on limk1 expression and the binding of miR-134 and limk1 in experimental seizure. METHODS: Status epilepticus (SE) rat model was established by lithium chloride-pilocarpine injection and was treated with Ant-134 by intracerebroventricular injection...
September 22, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28941874/pneumocephalus-and-seizures-following-epidural-steroid-injection
#17
Joseph Sorber, David Levy, Adam Schwartz
We describe a patient with pneumocephalus following an epidural steroid injection (ESI) who presented with altered mental status, headache, focal neurologic findings and seizures. Pneumocephalus has rarely been described following ESI. A 34-year-old female presented with an altered level of consciousness worsening over approximately 18h following an ESI for lumbar back pain. She had associated headache, right-sided facial twitching and right upper extremity weakness. A brain CT scan revealed pneumocephalus in the right lateral ventricle and quadrigeminal plate cistern...
September 18, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28941852/predictors-of-adverse-outcome-in-patients-of-tuberculous-meningitis-in-a-multi-centric-study-from-india
#18
Renu Gupta, Suman Kushwaha, Rajeev Thakur, Nupur Jalan, Pumanshi Rawat, Piyush Gupta, Amitesh Aggarwal, Meena Gupta, Vikas Manchanda
INTRODUCTION: This study aimed to investigate the factors which may predict mortality and neurological disability at one year follow up in patients of tuberculous meningitis (TBM) in India. METHODOLOGY: Patients with TBM were prospectively enrolled from July 2012 to September 2014 from four tertiary care hospitals of Delhi. The demographic characteristics, clinical features and laboratory findings were collected and patients were followed up till 1 year. These were analyzed by univariate and multivariate multinomial logistic regression analysis to identify predictors of adverse patient outcome at 1 year follow up...
October 2017: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/28941835/pharmacoresistance-with-newer-anti-epileptic-drugs-in-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#19
Michael S Pohlen, Jingxiao Jin, Ronnie S Tobias, Atul Maheshwari
This study aims to evaluate the overall prognosis, prognostic factors, and efficacy of treatment in patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) who have access to third generation anti-epileptic drugs but not to epilepsy surgery. Eighty-five MTLE-HS patients were retrospectively placed into a seizure-free (seizure-free for >1year) or drug-resistant group, and the two groups were compared on the basis of age, sex, age at onset of seizures, duration of epilepsy, side of lesion, handedness, EEG findings, history of CNS infection, history of febrile convulsions, history of head trauma, history of cognitive impairment, family history of seizures, number of current anti-epileptic drugs (AEDs), total number of AED trials, and presence of individual AEDs...
September 19, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28941623/post-licensure-safety-surveillance-study-of-routine-use-of-quadrivalent-meningococcal-diphtheria-toxoid-conjugate-vaccine
#20
J Hansen, L Zhang, N P Klein, C A Robertson, M D Decker, D P Greenberg, E Bassily, R Baxter
BACKGROUND: Menactra® vaccine (MenACWY-D) was licensed in the United States in 2005 for persons 11-55years of age. The aim of this study was to assess the safety of MenACWY-D administered as part of routine clinical care to patients at Kaiser Permanente Northern California (KPNC). METHODS: This was an observational, retrospective study that included all KPNC members who received MenACWY-D during the study period. We monitored all vaccine recipients for non-elective hospitalizations, emergency department visits, and selected outcomes captured in the clinic setting (Bell's palsy, seizures, neuritis, Guillain-Barré syndrome, encephalopathy, encephalitis, epilepsy, transverse myelitis, multiple sclerosis, hypersensitivity reactions, idiopathic thrombocytopenic purpura, diabetes, arthritis, hemolytic anemia, collagen-vascular disease) through 6months after vaccination...
September 20, 2017: Vaccine
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