ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
"How can we involve Patients?" - Students' perspectives on embedding PPIE into a doctoral training centre for AI in medical diagnosis and care. [PDF]
Syversen A +10 more
europepmc +1 more source
A Bayesian Inference Based Computational Tool for Parametric and Nonparametric Medical Diagnosis. [PDF]
Chatzimichail T, Hatjimihail AT.
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
Lightweight Multi-Class Support Vector Machine-Based Medical Diagnosis System with Privacy Preservation. [PDF]
Abdelfattah S +7 more
europepmc +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Proof-of-TBI -- Fine-Tuned Vision Language Model Consortium and OpenAI-o3 Reasoning LLM-Based Medical Diagnosis Support System for Mild Traumatic Brain Injury (TBI) Prediction [PDF]
Sachin Shetty +6 more
openalex +1 more source
Utilization Of Artificial Intelligence In Image-Based Medical Diagnosis
Rizki Annisa Febriani
openalex +1 more source
Render to physiatrist the things that are physiatrist's. In Italy, the Supreme Court confirms that physiotherapy without medical diagnosis is unlawful practice of medicine: what about the rest of Europe? [PDF]
Ferriero G +3 more
europepmc +1 more source

