Results 241 to 250 of about 2,646,607 (294)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Author Response: Refining the Evidence on HFNC for Post-traumatic Lung Contusion: A Critical Perspective. [PDF]

Indian J Crit Care Med
Eldeen FK, Hafez AF.
europepmc   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Correction: Fast-acting treatment of myasthenic crisis with efgartigimod from the perspective of the neuro intensive care unit. [PDF]

BMC Neurol
Shi F, Lai R, Feng L, Zhou H, Sun X, Shen C, Feng J, Xu Z, Wang H, Feng H.   +9 more
europepmc   +1 more source

The Conundrum of Antidepressant-Induced Anhedonia: A Blended Patient-Psychologist Perspective. [PDF]

J Patient Exp
Adams NN.
europepmc   +1 more source

Longitudinal Relationship Between Pain and Depression in People With Inflammatory Arthritis: A Narrative Review

Arthritis Care &Research, EarlyView.
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox, Saeed Farooq, Helen Twohig, Ian C. Scott   +3 more
wiley   +1 more source

Correction to: Effects of N-Methyl-d-Aspartate Receptor Antagonists on Gamma-Band Activity During Auditory Stimulation Compared With Electro/Magneto-encephalographic Data in Schizophrenia and Early-Stage Psychosis: A Systematic Review and Perspective. [PDF]

Schizophr Bull
europepmc   +1 more source

Perspective-Taking and Reactions Toward Poor Performers in Groups: A Scoping Review and Discussion. [PDF]

Behav Sci (Basel)
Halfmann E, Thürmer JL.
europepmc   +1 more source

Another Perspective on A Patient’s Perspective

Academic Medicine, 2017
openaire   +4 more sources

Colchicine Concentrations and Relationship With Colchicine Efficacy and Adverse Events: Post Hoc Analysis of a Randomized Clinical Trial of Colchicine for Gout Flare Prophylaxis

Arthritis Care &Research, EarlyView.
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp, Anne Horne, Borislav Mihov, Jill Drake, Janine Haslett, Peter Chapman, Daniel F. B. Wright, Christopher Frampton, Nicola Dalbeth   +8 more
wiley   +1 more source