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Musculoskeletal Abnormalities

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Towards Robust and Accurate Detection of Abnormalities in Musculoskeletal Radiographs with a Multi-Network Model.

Sensors (Basel, Switzerland)
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...

A calibrated deep learning ensemble for abnormality detection in musculoskeletal radiographs.

Scientific reports
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...

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.

Molecular genetics and metabolism
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...

Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.

Current protocols
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...