Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
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
Differences in contributing factors to diagnostic errors between physicians and allied health professionals: a nationwide analysis in Japan. [PDF]
Shimizu I +16 more
europepmc +1 more source
Diagnostic Errors in Japanese Community Hospitals and Related Factors: A Retrospective Cohort Study. [PDF]
Fujimori T, Ohta R, Sano C.
europepmc +1 more source
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
Identifying diagnostic errors in the emergency department using trigger-based strategies. [PDF]
Khalili M +8 more
europepmc +1 more source
Prevalence and Causes of Diagnostic Errors in Hospitalized Patients Under Investigation for COVID-19-Response from Author. [PDF]
Auerbach A, Hubbard C, Schnipper J.
europepmc +1 more source
Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss
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
Diagnostic Errors in the Acutely Dizzy Patient-Lessons Learned. [PDF]
Tarnutzer AA, Koohi N, Lee SU, Kaski D.
europepmc +1 more source
An audit of autopsy-confirmed diagnostic errors in perinatal deaths: What are the most common major missed diagnoses. [PDF]
Xu Y +7 more
europepmc +1 more source

