Results 91 to 100 of about 79,478 (306)

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Use of antiemetics in early pregnancy 2012–2022: A cross‐sectional study

British Journal of Clinical Pharmacology, EarlyView.
Aim Nausea and vomiting in pregnancy impact quality of life, yet many pregnant women feel dismissed by healthcare professionals, despite the safety of first‐line antiemetic treatments for both mother and fetus. Therefore, this study aims to describe the prevalence of patient‐reported antiemetic use in early pregnancy in Copenhagen, Denmark, the changes
Katrine Bak Wraae, Nanna Roed Ballegaard, Mie Lærkeholm Hede, Line Buchgreitz, Ane Lilleøre Rom, Hanne Kristine Hegaard, Nina Olsén Nathan   +6 more
wiley   +1 more source

Establishing gold standard approaches to rapid tranquillisation: a review and discussion of the evidence on the safety and efficacy of medications currently used [PDF]

, 2008
Background: Rapid tranquillisation is used when control of agitation, aggression or excitement is required. Throughout the UK there is no consensus over the choice of drugs to be used as first line treatment.
Branford, David, Chandler-Oatts, Jacqueline, Johnston, Susan, Nelstrop, Louise, Pereira, Stephen M., Pratt, J. Peter   +5 more
core   +1 more source

Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu, Trish Domi, Cecilia Jobst, Min Sheng, Amanda Robertson, Erum Syed, Pradeep Krishnan, Douglas Cheyne, Nomazulu Dlamini   +8 more
wiley   +1 more source

Maladaptive plasticity in levodopa-induced dyskinesias and tardive dyskinesias: old and new insights on the effects of dopamine receptor pharmacology. [PDF]

, 2014
Maladaptive plasticity can be defined as behavioral loss or even development of disease symptoms resulting from aberrant plasticity changes in the human brain.
Ahmed, Ananth, Aron, Aron, Baldessarini, Breakefield, Brooks, Byl, Calabresi, Calabresi, Carta, Casey, Casey, Castrén, Cenci, Cenci, Cerasa, Cerasa, Cerasa, Cerasa, Cerasa, Clarke, Crow, Crow, de la Fuente-Fernandez, de la Fuente-Fernandez, Fahn, Ganos, Gottwald, Heckers, Jankovic, Jellinger, Jenner, Kishore, Kishore, Koch, Koch, Koch, Li, Marsden, McEwen, Morgante, Nambu, Obeso, Pakkenberg, Peralta, Picconi, Quartarone, Rascol, Rylander, Salgado-Pineda, Sawada, Sgambato-Faure, Sigwald, Spencer, Teo, Vernon, Vernon, Zesiewicz   +58 more
core   +2 more sources

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia [PDF]

, 2018
Background and purpose: Adult-onset laryngeal dystonia (LD) can be isolated or can be associated with dystonia in other body parts. Combined forms can be segmental at the onset or can result from dystonia spread to or from the larynx.
3, 3, 6, Avanzino L10, Barone P7, Bentivoglio AR5, Berardelli A2, Cesari U1, Coletti Moja M17, Cossu G13, Defazio Giovanni, Eleopra R9, Erro R7, Esposito M1, Fabbrini G2, Fadda Laura, Ferrazzano G3, Gigante AF4, Minafra B15, Morgante F14, Peluso S1, Petracca M5, Romano M11, Scaglione CL12, Schirinzi T8, Turla M18, Zibetti M16   +26 more
core   +2 more sources

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

Non-motor symptoms in patients with isolated dystonia: comparison between the age of onset

Dystonia
Background: The etiology and motor presentation differs between pediatric- and adult-onset dystonia. Emerging evidence has demonstrated that non-motor symptoms are frequent in adult dystonia, which affect the quality of life. By contrast, little is known
Yifan Zhou, Lingbing Wang, Hongxia Li, Yiwen Wu   +3 more
doaj   +1 more source