Results 41 to 50 of about 29,225 (214)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Hypoxia, not pulmonary vascular pressure induces blood flow through intrapulmonary arteriovenous anastomoses [PDF]

, 2014
Blood flow through intrapulmonary arteriovenous anastomoses (IPAVA) is increased with exposure to acute hypoxia and has been associated with pulmonary artery systolic pressure (PASP).
A. William Sheel, Abbas, Akke Bakker, Albert, Andrew T. Lovering, Bain, Balanos, Bates, Benumof, Berk, Brimioulle, Bryan, Christie, Croft, Dorrington, Doyle, Eldridge, Elliott, Elliott, Elliott, Faoro, Foster, Fullerton, Giulio S. Dominelli, Glen E. Foster, Hohne, Hopkins, Imray, Joseph Donnelly, Joshua C. Tremblay, Kassamali, Keith R. Burgess, Kennedy, Ketabchi, Kollef, Laurie, Laurie, Levine, Lovering, Lovering, Lovering, Lovering, Lovering, Lovering, Lozo, Marriott, Mike Stembridge, Miller, Nia C.S. Lewis, Norris, Paolo B. Dominelli, Philip N. Ainslie, Querido, Roule, Rudski, Samuel J.E. Lucas, Stickland, Stickland, Stickland, Swenson, Swenson, Sylvester, Teppema, Tobin, Tobin, Tobin, Vazquez de Prada, Weil, William R. Henderson, Yildirimturk   +69 more
core   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Targeting carbonic anhydrase IX improves the anti-cancer efficacy of mTOR inhibitors. [PDF]

, 2016
The inhibition of the mechanistic target of rapamycin complex 1 (mTORC1) by chemical inhibitors, such as rapamycin, has demonstrated anti-cancer activity in preclinical and clinical trials.
Datta, D., Demartines, N., Dormond, O., Faes, S., Horlbeck, J., Letovanec, I., Planche, A., Pythoud, C., Riggi, N., Santoro, T., Stehle, J.C., Uldry, E.   +11 more
core   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

The effect of acetazolamide on sleep apnea at high altitude: a systematic review and meta-analysis

Therapeutic Advances in Respiratory Disease, 2017
Background: Acetazolamide has been investigated for treating sleep apnea in newcomers ascending to high altitude. This study aimed to assess the effect of acetazolamide on sleep apnea at high altitude, determine the optimal therapeutic dose, and compare ...
Hsin-Ming Liu, I-Jen Chiang, Ken N. Kuo, Cher-Ming Liou, Chiehfeng Chen   +4 more
doaj   +1 more source

Significance of the proper acclimatization, use of the acetazolamide and dexamethasone in prevention of acute mountain sickness (AMS) – literature review

Journal of Education, Health and Sport, 2020
Acute mountain sickness (AMS) is an ilness, that occurs in non-acclimatized individuals after rapid ascent to high altitude, typically above 2,500 metres (8,000 ft).
Karol Mazur, Dominik Machaj, Sandra Jastrzębska, Alicja Płaczek, Dominika Mazur   +4 more
doaj   +1 more source

Acetazolamide: Old drug, new evidence?

Epilepsia Open, 2022
Acetazolamide is an old drug used as an antiepileptic agent, amongst other indications. The drug is seldom used, primarily due to perceived poor efficacy and adverse events. Acetazolamide acts as a noncompetitive inhibitor of carbonic anhydrase, of which
Arif Ali Shukralla, Emma Dolan, Norman Delanty   +2 more
doaj   +1 more source

Benzolamide improves oxygenation and reduces acute mountain sickness during a high-altitude trek and has fewer side effects than acetazolamide at sea level. [PDF]

, 2017
Acetazolamide is the standard carbonic anhydrase (CA) inhibitor used for acute mountain sickness (AMS), however some of its undesirable effects are related to intracellular penetrance into many tissues, including across the blood-brain barrier ...
Collier, DJ, Flower, RJ, Hedges, A-M, Milledge, JS, Nathan, J, Swenson, ER, Wolff, CB   +6 more
core   +1 more source

Acetazolamide as an Add-on Therapy Following Barbed Reposition Pharyngoplasty in Obstructive Sleep Apnea: A Randomized Controlled Trial

Life
Surgical interventions, like barbed reposition pharyngoplasty (BRP), are a valuable alternative for patients with obstructive sleep apnea (OSA) who are unable to tolerate continuous positive airway pressure (CPAP).
Simon Hellemans, Eli Van de Perck, Dorine Van Loo, Johan Verbraecken, Scott A. Sands, Ali Azarbarzin, Marijke Dieltjens, Sara Op De Beeck, Anneclaire Vroegop, Olivier M. Vanderveken   +9 more
doaj   +1 more source