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https://www.readbyqxmd.com/read/28806632/clinical-utility-of-serum-lactate-levels-for-differential-diagnosis-of-generalized-tonic-clonic-seizures-from-psychogenic-nonepileptic-seizures-and-syncope
#1
Ebru Apaydın Doğan, Ali Ünal, Aslıhan Ünal, Çağla Erdoğan
BACKGROUND: The differential diagnosis of generalized tonic-clonic seizures (GTCS), psychogenic nonepileptic seizures (PNES), and syncope constitutes a major challenge. Misdiagnosis rates up to 20 to 30% are reported in the literature. PURPOSE: To assess the clinical utility of serum lactate levels for differentiation of GTCS, PNES, and syncope based on gender differences. METHODS: Data from 270 patients were evaluated retrospectively. Only patients ≥18 years old with the final diagnosis of GTCS, PNES, or syncope in their chart were recruited...
August 11, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28806589/novel-clinical-manifestations-in-patients-with-kcna2-mutations
#2
Monisha Sachdev, Marina Gaínza-Lein, Dmitry Tchapyjnikov, Yong-Hui Jiang, Tobias Loddenkemper, Mohamad A Mikati
PURPOSE: To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. METHODS: Blood samples were sent for whole exome and Sanger sequencing. Seizure types were characterized by clinical criteria and EEG recording. RESULTS: KCNA2 mutations have been reported in 10 cases who presented with focal, absence, generalized tonic-clonic or myoclonic astatic seizures. Here we describe 3 patients with previously unreported, more severe manifestations...
August 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28806489/characteristics-of-spontaneous-births-attended-by-midwives-and-physicians-in-us-hospitals-in-2014
#3
Patrick Thornton
INTRODUCTION: This study compares characteristics and birth outcomes of women attended by certified nurse-midwives/certified midwives (midwives) and physicians in US hospitals in 2014. METHODS: Data reported in 2014 on the 2003 version of the US birth certificate were examined. Spontaneous vaginal births attributed to midwives and physicians and occurring in hospitals were included. Demographic and risk profiles and adjusted odds ratios for maternal and newborn outcomes were compared by provider type...
August 14, 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#4
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806450/evaluation-of-combination-measles-mumps-rubella-varicella-vaccine-introduction-in-australia
#5
Kristine Macartney, Heather F Gidding, Lieu Trinh, Han Wang, Aditi Dey, Brynley Hull, Karen Orr, Jocelynne McRae, Peter Richmond, Michael Gold, Nigel Crawford, Jennifer A Kynaston, Peter McIntyre, Nicholas Wood
Importance: Incorporating combination vaccines, such as the measles-mumps-rubella-varicella (MMRV) vaccine, into immunization schedules should be evaluated from a benefit-risk perspective. Use of MMRV vaccine poses challenges due to a recognized increased risk of febrile seizures (FSs) when used as the first dose in the second year of life. Conversely, completion by age 2 years of measles, mumps, rubella, and varicella immunization may offer improved disease control. Objective: To evaluate the effect on safety and coverage of earlier (age 18 months) scheduling of MMRV vaccine as the second dose of measles-containing vaccine (MCV) in Australia...
August 14, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28806243/ictal-18f-fdg-pet-mri-in-a-patient-with-cortical-heterotopia-and-focal-epilepsy
#6
Ferdinando F Calabria, Giuseppe Lucio Cascini, Antonio Gambardella, Angelo Labate, Andrea Cherubini, Domenico Gullà, Benedetta Tafuri, Umberto Sabatini, Virginia Vescio, Aldo Quattrone
A 19-year-old man with epilepsy underwent ictal F-FDG PET/MRI, showing a 5 mm heterotopic nodule in the periventricular white matter, adjacent to the frontal horn of the left lateral ventricle (SUVmax, 5.5; glucidic cerebral metabolic rate, 0.317 μmol/mL). A repeated F-FDG PET/MRI, during seizure freedom, showed, at visual analysis, subtle decrease of the nodule metabolism. SUVmax and glucidic cerebral metabolic rate were clearly reduced to 3.7 and 0.226, respectively. Ictal F-FDG PET/MRI could be useful in epilepsy because of the added value of SUVmax and cerebral metabolic rate of glucose analysis to understand the relationship between heterotopy and epilepsy...
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28806046/electrolytes-sodium-disorders
#7
Michael M Braun, Megan Mahowald
Sodium disorders (ie, hyponatremia, hypernatremia) are common electrolyte disturbances in clinical medicine and are associated with increased rates of morbidity and mortality. Etiologies of hyponatremia are classified into four categories. The first is pseudohyponatremia, in which the sodium level is low due to hyperproteinemia, hyperlipidemia, or hyperglycemia. The other three categories are based on overall patient fluid status and include hypovolemic (commonly due to fluid loss), hypervolemic (commonly due to fluid retention from heart failure, cirrhosis, or renal failure), and euvolemic (most often because of syndrome of inappropriate secretion of antidiuretic hormone)...
August 2017: FP Essentials
https://www.readbyqxmd.com/read/28805770/-new-classifications-of-epilepsies-and-seizure-types-created-by-the-international-league-against-epilepsy-2017
#8
Ye V Makushkin, S N Oskolkova, G A Fastovtsov
First part of this review (Chapter 1) demonstrates an ambiguous attitude toward psychiatry among professionals and in society in recent decades. The articles of supporters and opponents of psychiatry are also quoted. The authors describe the dynamics of the reflection of psychopathology in the main widely accepted classifications and manuals. Critical and negative opinions regarding the DSM-5, due to its role in the 'medicalization' processes, for the movement 'World Mental Health', are mentioned. The history of antipsychiatry movement and its results for psychiatry and society are analyzed as well...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805769/-psychiatry-of-the-future-an-overview-of-foreign-scientists-opinions-of-the-position-of-psychiatry-in-the-modern-world
#9
E D Belousova, N N Zavadenko, A A Kholin, A A Sharkov
This review presents the recently published revised classifications of epilepsies and seizure types developed by the International League Against Epilepsy (ILAE). The Classification of Epilepsies includes several diagnostic levels (steps): 1) from seizure type to epilepsy type (generalized/focal/combined generalized and focal/unknown), 2) diagnosis of epilepsy syndrome 3) etiology (genetic/ structural/ infectious/ metabolic/ immune/unknown). A clinician can use any level of the classification. Operational classification of seizure types is replaced by the previous classification that was grounded on the anatomical basis...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805445/prevalence-and-predictors-of-learning-and-psychological-diagnoses-following-pediatric-arterial-ischemic-stroke
#10
Tricia S Williams, Kyla P McDonald, Samantha D Roberts, Nomazulu Dlamini, Gabrielle deVeber, Robyn Westmacott
This study examined the prevalence of learning and psychological diagnoses and associated neurological and personal-environmental risk factors following perinatal and childhood arterial ischemic stroke. In our sample of 126 children and youth, 52.4% received a diagnosis following their assessment. Specifically, 32% had a single diagnosis and 21% had two or more diagnoses. Learning disability, attention deficit-hyperactivity disorder, and intellectual disability were the most prevalent diagnoses. Associated risk factors varied by diagnosis with lower intellectual functioning being the common risk factor across categories...
August 14, 2017: Developmental Neuropsychology
https://www.readbyqxmd.com/read/28804898/epilepsy-surgery-of-low-grade-epilepsy-associated-neuroepithelial-tumors-a-retrospective-nationwide-italian-study
#11
Marco Giulioni, Gianluca Marucci, Veronica Pelliccia, Francesca Gozzo, Carmen Barba, Giuseppe Didato, Flavio Villani, Giancarlo Di Gennaro, Pier Paolo Quarato, Vincenzo Esposito, Alessandro Consales, Matteo Martinoni, Gianfranco Vornetti, Corrado Zenesini, Carlo Efisio Marras, Nicola Specchio, Luca De Palma, Raffaele Rocchi, Flavio Giordano, Giovanni Tringali, Paolo Nozza, Gabriella Colicchio, Guido Rubboli, Giorgio Lo Russo, Renzo Guerrini, Paolo Tinuper, Francesco Cardinale, Massimo Cossu
OBJECTIVE: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of "low grade epilepsy associated neuroepithelial tumors" (LEATs). METHODS: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome...
August 14, 2017: Epilepsia
https://www.readbyqxmd.com/read/28804613/novel-derivatives-of-phthalimide-with-potent-anticonvulsant-activity-in-ptz-and-mes-seizure-models
#12
Asghar Davood, Maryam Iman, Hanieh Pouriaiee, Hamed Shafaroodi, Sepideh Akhbari, Leila Azimidoost, Erfan Imani, Somaieh Rahmatpour
OBJECTIVES: Phthalimide-based derivatives have anticonvulsant activity like as phenytoin by inhibition of sodium channel. In our previously research we mentioned about some phthalimide derivatives as potent anticonvulsant agents. MATERIALS AND METHODS: Fourteen analogs of 2-substituted phthalimide pharmacophore were synthesized and then were evaluated for the anticonvulsant activities in pentylenetetrazole-induced seizures (PTZ) and maximal electroshock seizure (MES) models...
April 2017: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28804536/combined-respiratory-chain-deficiency-and-uqcc2-mutations-in-neonatal-encephalomyopathy-defective-supercomplex-assembly-in-complex-iii-deficiencies
#13
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes A Mayr
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28804482/risk-factors-for-intensive-care-unit-admission-in-patients-with-autoimmune-encephalitis
#14
Gayane Harutyunyan, Larissa Hauer, Martin W Dünser, Tobias Moser, Slaven Pikija, Markus Leitinger, Helmut F Novak, Wolfgang Aichhorn, Eugen Trinka, Johann Sellner
BACKGROUND: Prevention and early recognition of critical illness in patients with autoimmune encephalitis (AE) is essential to achieve better outcome. AIM OF THE STUDY: To evaluate risk factors for intensive care unit (ICU) admission and its prognostic impact in patients with AE. PATIENTS AND METHODS: A reclassification of patients hospitalized between 2011 and 2016 revealed 17 "definite" and 15 "probable" AE cases. Thirteen patients (41%) developed critical illness and required ICU admission...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28803773/low-dose-versus-high-dose-tranexamic-acid-reduces-the-risk-of-nonischemic-seizures-after-cardiac-surgery-with-cardiopulmonary-bypass
#15
Pierre Couture, Jean-Sébastien Lebon, Éric Laliberté, Georges Desjardins, Marie-Ève Chamberland, Christian Ayoub, Antoine Rochon, Jennifer Cogan, André Denault, Alain Deschamps
OBJECTIVE: The incidence of postoperative nonischemic seizures associated with the use of tranexamic acid (TXA) and the possibility of prevention with a low-dose regimen of TXA were evaluated. DESIGN: Retrospective study. SETTING: Tertiary care university hospital. PARTICIPANTS: A total of 12,195 patients who underwent cardiac surgical procedures under cardiopulmonary bypass (CPB) were evaluated. INTERVENTIONS: The files of every clinical seizure case diagnosed in the surgical intensive care unit between April 2006 and April 2014 were reviewed...
April 15, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28803659/seizing-control-of-kcc2-a-new-therapeutic-target-for-epilepsy
#16
REVIEW
Yvonne E Moore, Matt R Kelley, Nicholas J Brandon, Tarek Z Deeb, Stephen J Moss
Deficits in GABAergic inhibition result in the abnormal neuronal activation and synchronization that underlies seizures. However, the molecular mechanisms responsible for transforming a normal brain into an epileptic one remain largely unknown. Hyperpolarizing inhibition mediated by type A GABA (GABAA) receptors is dependent on chloride extrusion by the neuron-specific type 2K(+)-Cl(-) cotransporter (KCC2). Loss-of-function mutations in KCC2 are a known cause of infantile epilepsy in humans and KCC2 dysfunction is present in patients with both idiopathic and acquired epilepsy...
August 10, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28803641/the-assessment-of-risk-factors-for-febrile-seizures-in-children
#17
Krystyna Gontko-Romanowska, Zbigniew Żaba, Paweł Panieński, Barbara Steinborn, Michał Szemień, Magdalena Łukasik-Głębocka, Krystian Ratajczak, Adrian Chrobak, Joanna Mitkowska, Jacek Górny
OBJECTIVE: The aim of the paper was to assess the risk factors of febrile seizures in children. METHODS: The paper presents an analysis of a group of 176 children aged 6 months to 5 years who were admitted to A&E because of febrile seizures. RESULTS: The analysed group of 176 children comprised 61.96% boys and 38.07% girls, and the average age equalled 23 months. Family history was significant in 9.66% of patients. A statistically significant difference was noticed between insignificant family history and the incidence of febrile seizures...
July 31, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28803438/inhibitor-of-endocannabinoid-deactivation-protects-against-in-vitro-and-in-vivo-neurotoxic-effects-of-paraoxon
#18
Karen L G Farizatto, Sara A McEwan, Vinogran Naidoo, Spyros P Nikas, Vidyanand G Shukla, Michael F Almeida, Aaron Byrd, Heather Romine, David A Karanian, Alexandros Makriyannis, Ben A Bahr
The anticholinesterase paraoxon (Pxn) is related to military nerve agents that increase acetylcholine levels, trigger seizures, and cause excitotoxic damage in the brain. In rat hippocampal slice cultures, high-dose Pxn was applied resulting in a presynaptic vulnerability evidenced by a 64% reduction in synapsin IIb (syn IIb) levels, whereas the postsynaptic protein GluR1 was unchanged. Other signs of Pxn-induced cytotoxicity include the oxidative stress-related production of stable 4-hydroxynonenal (4-HNE)-protein adducts...
August 12, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28802899/a-species-dependent-response-to-the-pro-epileptic-drug-pentylentetrazole-in-birds
#19
Faiq Amin, Asim H Dar, Khan Osama, Faezah Khan, Rida Mitha, Arsal Tharwani, Ghulam Haider, Prem Chand, Fazal M Arain
Epilepsy is common disorder that affects over 50 million people worldwide. Birds remain a promising yet largely under-explored model of epilepsy. This study reports the comparison of the response of two species of birds, Australian Parrots (APs) and Sparrows (SPs), to a pro-epileptic drug, Pentylenetetrazole (PTZ). PTZ injections caused myoclonic jerks (MCJs) and tonic clonic seizures (TCSs) in both species. The frequency of MCJs in APs was greater at the dose of 75mg/kg compared to both 50mg/kg and 25mg/kg while it was not significantly different in SPs...
August 9, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28802771/dmd-and-west-syndrome
#20
Ruxandra Cardas, Catrinel Iliescu, Nina Butoianu, Andreea Seferian, Svetlana Gataullina, Elena Gargaun, Juliette Nectoux, Thierry Bienvenu, Dana Craiu, Teresa Gidaro, Laurent Servais
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6...
July 19, 2017: Neuromuscular Disorders: NMD
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