Results 71 to 80 of about 178,008 (287)

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

Ovid: Metamorphoses. From the Second Triad

Keria: Studia Latina et Graeca, 2019
Motiv o Salmakidi in Hermafroditu, o spojitvi ženske in moškega v dvospolno telo, sodi med raritete antične mitološke zakladnice. Odstopa tudi od prevladujočega vsebinskega vzorca v Ovidijevih Metamorfozah: tokrat nimfa izjemoma ni žrtev posilstva ...
Barbara Šega Čeh
doaj   +1 more source

Voice Feminization: Voice Therapy vs. Surgical Intervention: A Systematic Review [PDF]

, 2019
Purpose: Transgender individuals often seek to alter their vocal characteristics. For Male to Female (MtF) transgender individuals, attaining a feminine voice may be particularly challenging.
Huttner, Ruth, Leon-Gambetta, Carson, Matyas, Amanda   +2 more
core   +1 more source

The 2016 HIGh Heels: Health effects and psychosexual benefITS (HIGH HABITS) study : systematic review of reviews and additional primary studies [PDF]

, 2017
Acknowledgements We thank S.M. Barran (Guy’s and St Thomas NHS Foundation Trust) for general comments on the topic and its social context. We thank S. Reynolds for comments as a member of the public on the introduction and discussion, in particular with ...
Barnish, Jean, Barnish, Max, Morgan, Heather May   +2 more
core   +4 more sources

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer, M. Scott Perry, Joseph Sullivan, Susana Boronat, James Wheless, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer M. Zuberi, Rebecca Shaffer, Mary Wojnaroski, Madison M. Berl, Sarah Christensen, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +26 more
wiley   +1 more source

Status epilepticus: Updates on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Status epilepticus (SE) consists of prolonged, self‐sustaining seizures and is a common neurological emergency that causes respiratory compromise and neuronal injury. Without prompt treatment, the seizures can become resistant to benzodiazepines, leading to the progressive evolution of established, refractory, and super‐refractory SE.
Suchitra Joshi, Jaideep Kapur
wiley   +1 more source

Follow-up services for improving long-term outcomes in intensive care unit (ICU) survivors [PDF]

, 2017
This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: Our main objective is to assess the effectiveness of follow-up services for ICU survivors that aim to identify and address unmet health needs related to the ICU ...
Alderson, Phil, Lewis, Sharon R., McPeake, Joanne, Schofield-Robinson, Oliver J., Schofield-Robinson, Oliver J., Smith, Andrew F.   +5 more
core   +1 more source

Self‐completed patient‐reported outcome measures in adults with epilepsy: A review

Epilepsia Open, EarlyView.
Abstract Epilepsy affects 65 million people worldwide, and is a World Health Organization priority disease as highlighted in their 2022–2031 Intersectoral Global Action Plan (IGAP) on Epilepsy and other Neurological Disorders. IGAP's objectives include improving epilepsy treatment and care.
Alison L. Conquest, Terence J. O'Brien, Patrick Kwan, Jacqueline A. French, Charles B. Malpas, Emma C. Foster   +5 more
wiley   +1 more source

A rewriting of Pygmalion from a female (and feminist) perspective: «Galatea» by Madeline Miller.

Griseldaonline
In the context of contemporary publishing, which has witnessed the considerable success of the genre of female mythological retelling, Madeline Miller is a notable figure.
Chiara Valenzano
doaj   +1 more source

Efficacy and safety of perampanel as first adjunctive therapy in patients with focal‐onset seizures or generalized tonic‐clonic seizures in four post‐marketing studies across regions

Epilepsia Open, EarlyView.
Abstract Objective Early response to anti‐seizure medication (ASM) is associated with a favorable prognosis in patients with epilepsy. Research is required to confirm existing data on the clinical use of perampanel as first adjunctive therapy in different patient groups and different regions.
Stefano Meletti, Vineet Punia, Amitabh Dash, Anna Lisa Gentile, Ricardo Sáinz‐Fuertes, Samantha Goldman, Tobias Goldmann, Anna Patten, Dinesh Kumar, Leock Y. Ngo, Bernhard J. Steinhoff   +10 more
wiley   +1 more source