Results 91 to 100 of about 116,665 (387)

4β-hydroxycholesterol correlates with dose but not steady-state concentration of carbamazepine: indication of intestinal CYP3A in biomarker formation?

British Journal of Clinical Pharmacology, 2016
AIM 4β-hydroxycholesterol (4βOHC) is an endogenous CYP3A(4) biomarker, which is elevated by use of the CYP3A4 inducer carbamazepine. Our aim was to compare to what extent serum concentration of 4βOHC correlates with dose (presystemic exposure) and steady-
Caroline Gjestad, Duy Khanh Huynh, T. Haslemo, E. Molden   +3 more
semanticscholar   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

CAQ Corner: Basic concepts of transplant immunology

, 2022
Liver Transplantation, EarlyView.
Amanda Cheung, Josh Levitsky
wiley   +1 more source

Trigeminal neuralgia - diagnosis and treatment [PDF]

, 2017
Introduction Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain.
Bendtsen, Lars, Cruccu, Giorgio, DI STEFANO, Giulia, Maarbjerg, Stine   +3 more
core   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

The influence of CYP2C8*3 on carbamazepine serum concentration in epileptic pediatric patients

Balkan Journal of Medical Genetics, 2016
The aim of the present study was to investigate the distribution of CYP2C8 variants *3 and *5, as well as their effect on carbamazepine pharmacokinetic properties, in 40 epileptic pediatric patients on carbamazepine treatment.
Milovanovic DD, Milovanovic JR, Radovanovic M, Radosavljevic I, Obradovic S, Jankovic S, Milovanovic D, Djordjevic N   +7 more
doaj   +1 more source

Seizure outcome after switching antiepileptic drugs: A matched, prospective study. [PDF]

, 2016
OBJECTIVE: Outcomes after changing antiepileptic drugs (AEDs) have largely been studied in single cohort series. We recently reported the first study to examine this question in a controlled manner.
Finamore, Jon Marc, Mintzer, Scott, Nei, Maromi, Skidmore, Christopher T., Sperling, Michael R., Zhan, Tingting   +5 more
core   +2 more sources

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.

New England Journal of Medicine, 2011
BACKGROUND Carbamazepine causes various forms of hypersensitivity reactions, ranging from maculopapular exanthema to severe blistering reactions. The HLA-B*1502 allele has been shown to be strongly correlated with carbamazepine-induced Stevens-Johnson ...
M. McCormack, A. Alfirevic, Stephane Bourgeois, J. Farrell, Dalia Kasperavičiūtė, M. Carrington, G. Sills, T. Marson, Xiaoming Jia, P. D. Bakker, K. Chinthapalli, M. Molokhia, Michael R. Johnson, G. O’Connor, E. Chaila, S. Alhusaini, K. Shianna, R. Radtke, E. Heinzen, N. Walley, M. Pandolfo, W. Pichler, B. Park, C. Depondt, S. Sisodiya, D. Goldstein, P. Deloukas, N. Delanty, N. Delanty, G. Cavalleri, M. Pirmohamed   +30 more
semanticscholar   +1 more source

Metamizole induces voriconazole metabolism and results in subtherapeutic voriconazole concentrations

British Journal of Clinical Pharmacology, EarlyView.
Aims Voriconazole is extensively metabolized via cytochrome P450 (CYP) enzymes, predominantly CYP2C19 and CYP3A4. Drugs influencing the activity or expression of CYP enzymes can cause clinically relevant changes in the metabolism and voriconazole exposure. Metamizole is known to induce CYP3A4 and CYP2C19.
Simone D. Baan, Daan J. Touw, Marjolijn N. Lub‐de Hooge, Thijs H. Oude Munnink   +3 more
wiley   +1 more source

Pharmaceuticals entering Lake Champlain and their combination effects on developing Zebrafish Embryos [PDF]

, 2017
Human-derived pharmaceuticals have been identified entering surface waters in the United States through wastewater effluent. While there is ample literature about what each compound alone does to aquatic life, little is known about the effects aquatic ...
Ferraro, Ariana R
core   +1 more source