ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
In reply to "Diagnostic reasoning and cognitive error in emergency medicine: Implications for teaching and learning". [PDF]
Ginsburg J.
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
The Misdiagnosis Tracker: Enhancing Diagnostic Reasoning Through Cognitive Bias Awareness and Error Analysis. [PDF]
Mutlak Z +4 more
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Chylothorax as an Unusual Initial Manifestation of Diffuse Large B-Cell Lymphoma in an 86-Year-Old Woman: A Reflection of Diagnostic Reasoning and Age in Therapeutic Decisions. [PDF]
Ramos DD +4 more
europepmc +1 more source
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay +13 more
wiley +1 more source
Exploring the relationship of diagnostic reasoning, self-efficacy, and clinical reasoning of physical therapy students. [PDF]
Cunningham S +6 more
europepmc +1 more source
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Evaluating the diagnostic reasoning of large language models in complex neuro-ophthalmological cases: a comparative analysis of GPT-o1 Pro, GPT-4o, Gemini, Grok 2 and DeepSeek. [PDF]
Zhao FF +9 more
europepmc +1 more source

