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https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#1
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
March 23, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#2
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28273990/neurological-manifestations-in-systemic-lupus-erythematosus-a-single-centre-study-from-north-east-india
#3
Sanjeeb Kakati, Bhupen Barman, Sobur U Ahmed, Masaraf Hussain
INTRODUCTION: Neurological manifestations although common in Systemic Lupus Erythematosus (SLE), are often not recognized due to their diversed and varied presentation. Therefore, the study was planned to highlight the pattern of neurological involvement in SLE to help in early recognition. AIM: To study the pattern of neurological involvement in SLE and its correlation with disease activity and different investigation. MATERIALS AND METHODS: This hospital based prospective observational study was carried out from August 2009 to July 2010...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28173780/protocol-for-the-encode-trial-evaluating-a-novel-online-depression-intervention-for-persons-with-epilepsy
#4
Björn Meyer, Mario Weiss, Martin Holtkamp, Stephan Arnold, Katja Brückner, Johanna Schröder, Franziska Scheibe, Yvonne Nestoriuc
BACKGROUND: Depression is common among persons with epilepsy (PwE), affecting roughly one in three individuals, and its presence is associated with personal suffering, impaired quality of life, and worse prognosis. Despite the availability of effective treatments, depression is often overlooked and treated inadequately in PwE, in part because of assumed concerns over drug interactions or proconvulsant effects of antidepressants. Internet-administered psychological interventions might complement antidepressant medication or psychotherapy, and preliminary evidence suggests that they can be effective...
February 7, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28088048/disclosure-management-behaviors-in-korean-adults-with-well-controlled-epilepsy-their-relation-to-perception-of-stigma
#5
Sang-Ahm Lee, Byung-In Lee
PURPOSE: In spite of the fact that epilepsy is a concealable stigmatized identity, there is little evidence pertaining to disclosure management in adults living with epilepsy. We determined the factors contributing to disclosure management strategies in adults living with well-controlled epilepsy. METHODS: This was a cross-sectional multicenter study. Korean adults whose seizures had remitted for at least one year participated in this study. Using statistical analyses, we determined whether disclosure management behaviors measured using the Disclosure Management Scale (DMS) were related to demographic, clinical, and psychosocial variables...
February 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28065191/dissociation-in-patients-with-dissociative-seizures-relationships-with-trauma-and-seizure-symptoms
#6
S Pick, J D C Mellers, L H Goldstein
BACKGROUND: This study aimed to extend the current understanding of dissociative symptoms experienced by patients with dissociative (psychogenic, non-epileptic) seizures (DS), including psychological and somatoform types of symptomatology. An additional aim was to assess possible relationships between dissociation, traumatic experiences, post-traumatic symptoms and seizure manifestations in this group. METHOD: A total of 40 patients with DS were compared with a healthy control group (n = 43), matched on relevant demographic characteristics...
January 9, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/27912112/ethnic-variation-of-genetic-idiopathic-generalized-epilepsy-in-malaysia
#7
Kheng Seang Lim, Ching Ching Ng, Chung Kin Chan, Wee Shean Foo, Joyce Siew Yong Low, Chong Tin Tan
PURPOSE: Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia. METHOD: In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016...
February 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27869305/analysis-of-falls-in-patients-with-epilepsy-enrolled-in-the-perampanel-phase-iii-randomized-double-blind-studies
#8
Ilo E Leppik, Haichen Yang, Betsy Williams, Sharon Zhou, Randi Fain, Anna Patten, Francesco Bibbiani, Antonio Laurenza
OBJECTIVE: To analyze occurrence of falls among patients with partial seizures, with/without secondarily generalized seizures (SGS), and primary generalized tonic-clonic seizures (PGTCS) in the perampanel phase III clinical studies. METHODS: Studies 304, 305, and 306 randomized subjects (≥12 years) with drug-resistant partial seizures (with/without SGS) to perampanel 2, 4, 8, or 12 mg or placebo for double-blind treatment. The adverse event (AE) of falls was analyzed in the Safety Analysis Set (N = 1480)...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27843467/comparison-of-relation-between-attention-deficit-hyperactivity-disorder-in-children-with-and-without-simple-febrile-seizure-admitted-in-arak-central-iran
#9
Bahman Salehi, Parsa Yousefichaijan, Smira Safi Arian, Somaieh Ebrahimi, Mahdyieh Naziri
OBJECTIVE: Febrile seizure is one of the most prevalent childhood convulsions with the most common age of onset at 14-18 mo old. Fever decreases the brain threshold for seizure. Attention Deficit Hyperactivity Disorder (ADHD) is also a neurologic-behavioral problem defined by attention deficit and hyperactivity according to DSM-IV criteria in which the child must have these signs in two different environments. There is controversy on the possible relation between febrile seizure and ADHD; while some studies approve a strong relation, some exclude any relation and some attribute ADHD to the side effects of other reasons...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27789949/managing-drug-resistant-epilepsy-challenges-and-solutions
#10
REVIEW
Linda Dalic, Mark J Cook
Despite the development of new antiepileptic drugs (AEDs), ~20%-30% of people with epilepsy remain refractory to treatment and are said to have drug-resistant epilepsy (DRE). This multifaceted condition comprises intractable seizures, neurobiochemical changes, cognitive decline, and psychosocial dysfunction. An ongoing challenge to both researchers and clinicians alike, DRE management is complicated by the heterogeneity among this patient group. The underlying mechanism of DRE is not completely understood. Many hypotheses exist, and relate to both the intrinsic characteristics of the particular epilepsy (associated syndrome/lesion, initial response to AED, and the number and type of seizures prior to diagnosis) and other pharmacological mechanisms of resistance...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27762437/symptomatic-and-presumed-symptomatic-focal-epilepsies-in-childhood-an-observational-prospective-multicentre-study
#11
Marilena Vecchi, Carmen Barba, Debora De Carlo, Micol Stivala, Renzo Guerrini, Emilio Albamonte, Domiziana Ranalli, Domenica Battaglia, Giada Lunardi, Clementina Boniver, Benedetta Piccolo, Francesco Pisani, Gaetano Cantalupo, Giuliana Nieddu, Susanna Casellato, Silvia Cappanera, Elisabetta Cesaroni, Nelia Zamponi, Domenico Serino, Lucia Fusco, Alessandro Iodice, Filippo Palestra, Lucio Giordano, Elena Freri, Ilaria De Giorgi, Francesca Ragona, Tiziana Granata, Isabella Fiocchi, Stefania Maria Bova, Massimo Mastrangelo, Alberto Verrotti, Sara Matricardi, Elena Fontana, Davide Caputo, Francesca Darra, Bernardo Dalla Bernardina, Francesca Beccaria, Giuseppe Capovilla, Maria Pia Baglietto, Alessandra Gagliardi, Aglaia Vignoli, Maria Paola Canevini, Egle Perissinotto, Stefano Francione
OBJECTIVE: To describe the clinical, neuropsychological, and psychopathologic features of a cohort of children with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy at time of recruitment and through the first month. The selected population will be followed for 2-5 years after enrollment to investigate the epilepsy course and identify early predictors of drug resistance. METHODS: In this observational, multicenter, nationwide study, children (age 1 month-12...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27612082/identification-of-adhd-in-youth-with-epilepsy
#12
Mary C Kral, Michelle D Lally, Andrea D Boan
PURPOSE: To further characterize Attention-Deficit/Hyperactivity Disorder (ADHD) in a clinic-referred sample of youth with epilepsy. METHODS: Children and adolescents with epilepsy who were referred for comprehensive neuropsychological evaluation comprised the sample. Data were obtained via archival record review. Youth with epilepsy were grouped according to ADHD diagnosis (no ADHD, ADHD - Combined Type, and ADHD - Predominantly Inattentive Type) and compared for a number of neurocognitive variables, seizure-related variables, and parent and teacher completed behavior rating scale variables...
September 2, 2016: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/27444738/identification-of-mutations-in-ap4s1-spg52-through-next-generation-sequencing-in-three-families
#13
A Tessa, R Battini, A Rubegni, E Storti, C Marini, D Galatolo, R Pasquariello, F M Santorelli
BACKGROUND AND PURPOSE: The term hereditary spastic paraplegia (HSP) covers a spectrum of genetically heterogeneous disorders in which lower limb spasticity is the common clinical feature. Many patients with childhood-onset HSP are mistakenly diagnosed with cerebral palsy (CP). METHODS: A group of as yet molecularly undiagnosed HSP patients were analyzed using SpastoPlex, a customized target re-sequencing panel able to investigate the coding regions of 72 genes linked to HSP, spastic ataxias or related motor diseases...
October 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27218417/clinical-outcomes-in-children-with-herpes-simplex-encephalitis-receiving-steroid-therapy
#14
Hülya Maraş Genç, Emek Uyur Yalçın, Murat Sayan, Asuman Bayhan, Selim Öncel, Emin Sami Arısoy, Bülent Kara
BACKGROUND: Herpes simplex virus encephalitis (HSE) is a significant cause of morbidity and mortality. Neurologic sequelae are common even after early initiation of acyclovir treatment. The host immune response during HSE can also lead to brain damage. There are an increasing number of reports favoring steroid use in HSE. OBJECTIVES: We aimed to compare the prognosis of children with HSE with and without steroid therapy. STUDY DESIGN: We retrospectively screened our hospital archive from 2009 to 2014 for patients diagnosed with HSE with a positive result for herpes simplex virus polymerase chain reaction in cerebrospinal fluid...
July 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/27132549/impact-of-extracorporeal-membrane-oxygenation-on-acute-fulminant-myocarditis-related-hemodynamic-compromise-arrhythmia-in-children
#15
Kuan-Miao Lin, Ming-Hsiu Li, Kai-Sheng Hsieh, Hsuan-Chang Kuo, Ming-Chou Cheng, Jiunn-Jye Sheu, Ying-Jui Lin
BACKGROUND: Acute fulminant myocarditis (AFM) commonly presents as abrupt cardiogenic shock with or without dysrhythmia. This study evaluated the impact of extracorporeal membrane oxygenation (ECMO) on AFM-related hemodynamic compromise dysrhythmias. We also reported the clinical experience of AFM at our hospital. METHODS: Eighteen children diagnosed with AFM were enrolled. Demographic variables, laboratory data, and clinical courses were reviewed. Thirteen surviving patients with hemodynamic compromise arrhythmia [complete atrioventricular block (CAVB) or ventricular tachycardia (VT)] during hospitalization were divided into Group A (ECMO group; n = 7) and Group B (non-ECMO group; n = 6)...
December 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27128787/pediatric-epilepsy-surgery-could-age-be-a-predictor-of-outcomes
#16
Benoit Jenny, Nicolas Smoll, Yassine El Hassani, Shahan Momjian, Claudio Pollo, Christian M Korff, Margitta Seeck, Karl Schaller
OBJECTIVE Like adults, many children suffering from intractable seizures benefit from surgical therapy. Although various reports indicate that early intervention may avoid severe developmental consequences often associated with intractable epilepsy, surgery is still considered a last option for many children. In this retrospective study, the authors aimed to determine whether pediatric epilepsy surgery, in particular during the first years of life, relates to measurable benefits. METHODS Data from 78 patients (age range 5 months to 17 years) who underwent epilepsy surgery at the Geneva and Lausanne University Hospitals between 1997 and 2012 were reviewed retrospectively...
August 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27119274/cerebral-venous-sinus-thrombosis-from-a-tertiary-care-teaching-hospital-in-india
#17
Jayantee Kalita, Satish Chandra, Bishwanath Kumar, Vikas Bansal, Usha K Misra
OBJECTIVE: The prognosis of cerebral venous sinus thrombosis (CVST) may be dependent on underlying causes and magnetic resonance imaging findings. We report the clinical, laboratory, and radiologic spectrum, and outcome of consecutive patients with CVST. METHODS: Consecutive patients with CVST over the last 15 years were subjected to detailed history, clinical examination, and laboratory tests as per fixed protocol. The diagnosis of CVST was based on MR venography...
May 2016: Neurologist
https://www.readbyqxmd.com/read/27111691/anesthetic-management-of-877-pediatric-patients-undergoing-muscle-biopsy-for-neuromuscular-disorders-a-20-year-review
#18
Frederic Shapiro, Umeshkumar Athiraman, David J Clendenin, Monica Hoagland, Navil F Sethna
BACKGROUND: The objectives are to review the anesthetic management and anesthetic-related adverse events in patients undergoing muscle biopsy for a broad spectrum of neuromuscular disorders (NMD). AIM: The study aims to assess the hypothesis that perceived awareness of potential anesthesia-induced hyperkalemia and MH in patients with NMD reduces the frequency of such events. METHODS: A 20-year retrospective review of 877 consecutive patients undergoing muscle biopsy to establish diagnoses of NMD has been performed...
July 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27098266/antiepileptic-drugs-for-the-primary-and-secondary-prevention-of-seizures-after-intracranial-venous-thrombosis
#19
REVIEW
Michelle Price, Albrecht Günther, Joseph S K Kwan
BACKGROUND: Intracranial venous thrombosis (ICVT) commonly presents with seizures in the acute period, and some people may develop recurrent seizures in the long term. The prophylactic use of antiepileptic drugs (AEDs) for the management of post-ICVT seizures is controversial, and there is currently no consensus on the optimal management of post-ICVT seizures. This is an updated version of the Cochrane review first published in theCochrane Database of Systematic Reviews 2006, Issue 3...
2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27054905/is-high-dose-%C3%AE-lactam-therapy-associated-with-excessive-drug-toxicity-in-critically-ill-patients
#20
Craig McDonald, Menino O Cotta, Peter J Little, Brett McWhinney, Jacobus P Ungerer, Jeffrey Lipman, Jason A Roberts
BACKGROUND: β-lactam antibiotics may necessitate higher than licensed drug doses to achieve therapeutic exposures in critically ill patients. Therapeutic drug monitoring can be used to guide dosing so as to maximise therapeutic effect whilst reducing the likelihood of exposure-related toxicity. METHODS: A retrospective review of critically ill patients identified those that received higher than licensed doses of either meropenem (3-6 g/day) or piperacillin-tazobactam (16 g-2 g/day) (i...
September 2016: Minerva Anestesiologica
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