AIMC Topic: Musculoskeletal Abnormalities
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Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Molecular genetics and metabolism
Oct 5, 2021
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patient...
A calibrated deep learning ensemble for abnormality detection in musculoskeletal radiographs.
Scientific reports
Apr 27, 2021
Musculoskeletal disorders affect the locomotor system and are the leading contributor to disability worldwide. Patients suffer chronic pain and limitations in mobility, dexterity, and functional ability. Musculoskeletal (bone) X-ray is an essential t...
Towards Robust and Accurate Detection of Abnormalities in Musculoskeletal Radiographs with a Multi-Network Model.
Sensors (Basel, Switzerland)
Jun 2, 2020
This study proposes a novel multi-network architecture consisting of a multi-scale convolution neural network (MSCNN) with fully connected graph convolution network (GCN), named MSCNN-GCN, for the detection of musculoskeletal abnormalities via muscul...
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.
Current protocols
Oct 1, 2023
With recent advances in computer vision, many applications based on artificial intelligence have been developed to facilitate the diagnosis of rare genetic disorders through the analysis of patients' two-dimensional frontal images. Some of these have...
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