Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
How Are Deprescribing Clinical Practice Guidelines Disseminated and Implemented? A Cross-Sectional Study of International Organisational Stakeholders. [PDF]
Cheng CHJ +6 more
europepmc +1 more source
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi +9 more
wiley +1 more source
Safely Treating a Pulmonary Embolism in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report. [PDF]
Carfagnini C, Kandula M.
europepmc +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Assessing content validity: challenges of conducting systematic reviews of patient-reported outcome measures and recommendations to improve the application of COSMIN guidance. [PDF]
Chambers RL +6 more
europepmc +1 more source
Brazilian Journal of Anesthesiology: 75 years consolidating achievements. [PDF]
Cangiani LM.
europepmc +1 more source
Use of ESGE clinical practice guidelines in daily endoscopy: Results of a national survey of Spanish endoscopists. [PDF]
Bustamante-Balén M +7 more
europepmc +1 more source

