Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Impact of pharmacist‐led discharge medication reconciliation on error and patient harm prevention at a large academic medical center [PDF]
Linda Zheng +6 more
openalex +1 more source
Correction to “HPDL Variant Type Correlates With Clinical Disease Onset and Severity”
Annals of Clinical and Translational Neurology, EarlyView.
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Beyond medical errors: exploring the interpersonal dynamics in physician-patient relationships linked to medico-legal complaints. [PDF]
BMC Health Serv ResMostafapour M +3 more
europepmc +1 more source
Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund +3 more
wiley +1 more source
From Pregnancy Pains to Paralysis: An Erroneous Intrathecal Digoxin Administration Case Report and Review of Medical Errors. [PDF]
CureusHolcomb BM, Shah S, Shah R.
europepmc +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Strategies to prevent medical errors by nursing interns: a qualitative content analysis. [PDF]
BMC NursHeydarikhayat N +2 more
europepmc +1 more source