Publications by authors named "R D Boutin"
Article Synopsis
- Spastic tetraplegia and axial hypotonia (STAHP) is a rare neurological disorder in children linked to biallelic SOD1 deficiency, marked by progressive symptoms starting before age 2.
- Five studies have reported nine cases, primarily related to a common genetic variant in SOD1 that disrupts enzyme function, with one case involving a novel SOD1 variant in a 19-year-old male.
- The patient exhibited significant neurological decline and MRI findings of cerebellar atrophy, plus new symptoms including immune dysregulation and physical anomalies not previously associated with STAHP.
Opportunistic Screening of Bone Fragility Using Computed Tomography.
Semin Musculoskelet Radiol
October 2024
Article Synopsis
- Opportunistic screening leverages existing CT imaging to diagnose osteoporosis without requiring extra tests for patients, addressing the healthcare burden of a condition that affects 500 million people worldwide.
- While DXA is the standard method for osteoporosis diagnosis, many fractures occur in individuals who have never been screened, making CT a valuable tool due to its accessibility and ability to measure bone density.
- The article discusses the advantages of using CT, including automation and the integration of radiomics and genomics, which may lead to better diagnosis, treatment options, and overall patient care in osteoporosis management.
Background: Proteomics offers potential for detecting and monitoring anorexia nervosa (AN) and its variant, atypical AN (atyp-AN). However, research has been limited by small protein panels, a focus on adult AN, and lack of replication.
Methods: In this study, we performed Olink multiplex profiling of 92 inflammation-related proteins in females with AN/atyp-AN ( = 64), all of whom were ≤90% of expected body weight, and age-matched healthy control individuals ( = 44).
Article Synopsis
- - Over 85 million CT scans are done annually in the US, with a significant portion focused on the abdomen, highlighting a need for efficient interpretation methods due to a shortage of radiologists.
- - To address this, researchers introduced Merlin, a 3D Vision Language Model (VLM) that uses both electronic health records and radiology reports for training without the need for manual annotations, utilizing a vast clinical dataset of millions of images and codes.
- - Merlin was evaluated on various tasks, including chronic disease prediction and report generation, showing better performance than current methods, demonstrating its potential to support radiologists in their work.