Results 71 to 80 of about 55,162 (292)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

City-wide Analysis of Electronic Health Records Reveals Gender and Age Biases in the Administration of Known Drug-Drug Interactions

, 2020
The occurrence of drug-drug-interactions (DDI) from multiple drug dispensations is a serious problem, both for individuals and health-care systems, since patients with complications due to DDI are likely to reenter the system at a costlier level.
Correia, Rion Brattig, de Araújo, Luciana P., Mattos, Mauro M., Rocha, Luis M.   +3 more
core   +1 more source

International Veterinary Epilepsy Task Force consensus proposal: Medical treatment of canine epilepsy in Europe [PDF]

, 2015
In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which ...
A Fischer, A Khoutorsky, A Tipold, AJ Streeter, AJ Wilensky, AK Cook, Akos Pakozdy, AM Kiviranta, Andrea Fischer, Andrea Tipold, B Dayrell-Hart, BF Bourgeois, C O'Dell, C Rundfeldt, C Rundfeldt, CH Gulløv, CL Gaskill, CL Gaskill, Clare Rusbridge, CW Dewey, CW Dewey, CW Dewey, D Ruehlmann, D Schwartz-Porsche, DJ Morton, DM Boothe, DM Boothe, DW Chadwick, DW Kaufman, Edward E. Patterson, EE Patterson, ES Nichols, F Al-Tahan, G Hussein, G Jacobs, GC Farnbach, GD Montouris, GD Thurman, GJ Sills, GW Caldwell, H Freitag, HA Volk, HE Baird-Heinz, Heidrun Potschka, HH Frey, HH Frey, HM Wright, Holger A. Volk, HS White, IC Wong, IE Leppik, IH Shaik, J Janszky, J Speciale, J Weissl, Jacques Penderis, JJ Shih, JJ Shih, JM Pellock, JT Yarrington, JY Chung, K Orito, KA Lyseng-Williamson, Karen Muñana, Kaspar Matiasek, KL Weiss, KR Muñana, KR Muñana, KR Muñana, L Alves, L Risio De, LA Trepanier, LA Trepanier, LA Trepanier, LA Trepanier, LD Cahan, LJ Stephen, LL Radulovic, Luisa De Risio, M Berendt, M Berendt, M Bialer, M Charalambous, M Govendir, M Podell, M Podell, M Podell, M Podell, M Schwartz, M Taverna, M1 Contin, MA Rogawski, Mette Berendt, MFD Steinberg, Michael Podell, ML Miller, N Scola, P Jull, P Kwan, PA March, PA March, Paul J.J. Mandigers, PB Müller, PN Patsalos, R Monteiro, RD Elterman, RE Levitski, RM Packer, Robyn G. Farquhar, RS Hess, S Daminet, S Rieck, S Shorvon, SA Kube, SA Moore, SA Moore, Sam Long, SD Forrester, SD Shorvon, SE Bunch, SE Martinez, SI Johannessen, Simon Platt, SM Roche La, SO Wagner, Sofie F.M. Bhatti, SR Platt, T Glauser, T Hojo, T Klopmann von, T Klopmann von, TA Glauser, TL Gieger, TL Gieger, TP Sutula, V Hülsmeyer, V Salazar, VE Adusumalli, Veronika M. Stein, W Löscher, W Löscher, WB Thomas, WB Thomas, WM Pedersoli, Wolfgang Löscher, WR Garnett, WR Ravis, WR Ravis, Y Heynold   +148 more
core   +7 more sources

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

A Patch Test Confirmed Phenobarbital-Induced Fixed Drug Eruption in a Child

Iranian Journal of Allergy, Asthma and Immunology, 2014
A-10-year-old girl was referred to our department for multiple hyperpigmented plaques. One  week  previously,  she  had  been  given  one  suppository  of  acetylsalicylic acid  – phenobarbital for fever.
Zohra Chadly, Karim Aouam, Amel Chaabane, Hichem Belhadjali, Naceur Abderrazzak Boughattas, Jamel Eddine Zili   +5 more
doaj  

Toxic epidermal necrolysis caused by phenobarbital: a case report and literature review

Frontiers in Pharmacology
BackgroundToxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS) are rare, life-threatening immunologic reactions. Previous relevant literature has provided limited information regarding this disease’s genetic susceptibility and management ...
Jie Cheng, Jie Cheng, Hui Li, Yan Li, Xiao Li, Jianjun Wang, Xin Huang, XueYan Cui   +7 more
doaj   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Multiple acquired portosystemic shunts in a cat secondary to chronic diaphragmatic rupture [PDF]

, 2015
A cat with a chronic diaphragmatic rupture presented with neurological signs, including twitching and focal seizures. Blood ammonia level was markedly elevated and therefore neurological signs were thought to be related to hepatic encephalopathy ...
Birchard SJ, Boudrieau SJ, Cornell KK, Wilson GP   +3 more
core   +3 more sources

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Phenobarbital and Suicidality: A Case Report

Kerala Journal of Psychiatry, 2017
Phenobarbital is widely-used in primary care for the treatment of epilepsy, headache and insomnia in India. There are certain scenarios in which its use must be monitored closely.
Sreeja Sahadevan, Rajan Nishanth Jayarajan, Jayaraj Kezhukkut, Thekkanath Paul Antony, Damodaran Sreekumar   +4 more
doaj   +1 more source