Results 71 to 80 of about 14,260 (269)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Current trends in the management of childhood gastroenteritis in the community [PDF]

, 1989
Infection of the gastrointestinal tract are still amongst the most common infections of childhood. Despite improvements in the standard of living over the last fifty years, gastroenteritis still constitutes a sizeable amount of general practitioner ...
Vella, Cecil
core  

Common toads (Bufo arenarum) learn to anticipate and avoid hypertonic saline solutions [PDF]

, 2007
Toads (Bufo arenarum) were exposed to pairings between immersion in a neutral saline solution (i.e., one that caused no significant variation in fluid balance), followed by immersion in a highly hypertonic saline solution (i.e., one that caused water ...
Mauricio R Papini, M Florencia Daneri, Rubén N Muzio, Daneri, Maria Florencia, Muzio, Ruben Nestor, Papini, Mauricio   +5 more
core   +1 more source

Evaluation of Caspase-1 Activation and IL-1β Production in A Kainic Acid Microdyalisis Brain Injury Model

Bio-Protocol, 2013
Intracerebral infusion of kainic acid (KA) by a microdialysis probe induces a focal swelling in the brain-perfused area which promotes inflammation (Compan et al., 2012; Oprica et al., 2003). The microdialysis technique allows the local in vivo perfusion
Antonio Herranz, Eulalia Bazán, Diana Reimers, María Montero-Vega, Adriano Jménez-Escrig, Pablo Pelegrín   +5 more
doaj   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Effect of osmotic drying on physicochemical properties of pansies (viola × wittrockiana)

International Journal of Food Studies, 2019
The objective of this work was to study the effect of osmotic drying, using different hypertonic solutions (sucrose and sodium chloride), on physicochemical characteristics of pansies (Viola Ö wittrockiana).
Luana Fernandes, Susana Casal, Agostinho Magalhaes, Paula Baptista, Jose A. Pereira, Jorge A. Saraiva, Elsa Ramalhosa   +6 more
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Physiologic and hypertonic saline solutions impair ciliary activity in vitro.

, 1999
Objective/Hypothesis: Physiologic saline (NaCl 0.9%) is commonly used in treating acute and chronic rhinosinusitis. Moreover, physiologic saline is used as a control medium, vehicle, or solvent in studies on ciliary beat frequency (CBF).
Graamans, K, Keles, N, Huizing, EH, Boek, WM   +3 more
core   +1 more source

Ketogenic diet therapy for children with super‐refractory status epilepticus in intensive care: International clinical practice recommendations

Epilepsia Open, EarlyView.
Abstract Objective We aimed to create practical recommendations to support healthcare teams starting ketogenic diet therapy (KDT) for children with super‐refractory status epilepticus in intensive care settings. Methods A literature review was conducted to extract published data on patient selection, diet prescription, diet initiation, monitoring, fine‐
Robyn Blackford, Victoria J. Whiteley, Isobel Hardy, Marisa Armeno, Tessa Bollard, J. Helen Cross, Christin Eltze, Susan George, Charlotte Howard, A. Laura Nijstad, Erin Talzzia, Chris Paget, Samiran Ray, Zoe Simpson, Elizabeth Song‐Pozderac, Agnieszka Szmurlo, Charlene Tan‐Smith, Lisa Vanatta, Elles van der Louw, Natasha E. Schoeler, on behalf of the Ketogenic Dietitians Research Network   +20 more
wiley   +1 more source

Pretreatment with hypertonic solutions increases quantal size at the frog neuromuscular junction

, 1987
Miniature end-plate potentials (MEPPs) are increased in size by pretreatment in a hypertonic Ringer. This paper is about the treatments that increase quantal size and the evidence that it occurs by packing more acetylcholine (ACh) in the quanta ...
W. Van der Kloot
core   +1 more source