Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center.

Background: A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the incidence of avascular osteonecrosis (AVN). However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not known whether it is related to individual treatments, genotypes, phenotypes, biomarkers of residual disease activity, or anti-drug antibodies. Prompted by development of AVN in several patients receiving ERT, we aimed to delineate the determinants of AVN in patients receiving ERT or eliglustat substrate reduction therapy (SRT) during 20 years in a tertiary referral center.

Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease.

In Gaucher disease, several macrophage-specific biomarkers have been validated for use in the clinic. However, Gaucher disease is more complex involving system-wide pathophysiology beyond the macrophage, and based on gene array analysis in our Gaucher disease mouse model and other emerging pathophysiologic insights, we evaluated serum levels of cathepsins D and S, YKL-40 and progranulin in Gaucher disease patients. We assessed their biomarker potential in Gaucher disease and compared them to established Gaucher disease biomarkers, chitotriosidase, chemokine ligand 18 (CCL18), and other indicators of disease severity and response to therapy.

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.

In the spleens of Gaucher disease mice and patients, there is a striking elevation of expression of glycoprotein non-Metastatic Melanoma B (gpNMB). We conducted a study in a large cohort of patients with Gaucher disease to assess the utility of serum levels of soluble fragment of gpNMB as a biomarker of disease activity. There was >15-fold elevation of gpNMB in sera of untreated patients with Gaucher disease.

Glucosylsphingosine is a key biomarker of Gaucher disease.

Gaucher disease (GD) involves the accumulation of glucosylceramide (GL1) and its deacylated lysolipid, glucosylsphingosine (lyso-GL1) which is implicated in mediating immune dysregulation and skeletal disease. The aim of our study was to assess plasma Lyso-GL1 as a biomarker of GD and its response to therapy. Plasma lyso-GL1 in 169 patients with GD type 1 (GD1) was measured by LC-MS/MS.

Three-Dimensional Isotropic MRI of the Cervical Spine: A Diagnostic Comparison With Conventional MRI.

Study Design: Retrospective diagnostic trial.

Objective: To determine the diagnostic performance of 3-dimensional turbo spin-echo (3D-TSE) isotropic magnetic resonance imaging (MRI) in the assessment of cervical spine pathology.

Summary Of Background Data: MRI is the imaging modality of choice for many cervical spine pathologies.

Comparison of agreement of cervical spine degenerative pathology findings in magnetic resonance imaging studies.

Background Context: Magnetic resonance imaging (MRI) is often used in the evaluation of degenerative conditions of the cervical spine. However, the agreement of interpreting and reporting varying degenerative findings on cervical MRI has not been well assessed.

Purpose: This study aimed to compare the inter-rater and intra-rater agreement of MRI findings between common degenerative findings of the cervical spine.

Interrater and intrarater agreements of magnetic resonance imaging findings in the lumbar spine: significant variability across degenerative conditions.

Background Context: Magnetic resonance imaging (MRI) is frequently used in the evaluation of degenerative conditions in the lumbar spine. The relative interrater and intrarater agreements of MRI findings across different pathologic conditions are underexplored, as most studies are focused on specific findings.

Purpose: The purpose of this study was to characterize the interrater and intrarater agreements of MRI findings used to assess the degenerative lumbar spine.

3D-FSE Isotropic MRI of the Lumbar Spine: Novel Application of an Existing Technology.

Study Design: Retrospective diagnostic trial.

Objective: To determine the diagnostic performance of 3-dimensional isotropic fast/turbo spin-echo (3D-TSE) in routine lumbar spine magnetic resonance imaging (MRI).

Summary Of Background Data: Conventional 2-dimensional fast spin-echo (2D-FSE) MRI requires independent acquisition of each desired imaging plane.

Development of a computed tomography-based scoring system for necrotizing soft-tissue infections.

Background: Necrotizing soft-tissue infections (NSTIs) are associated with significant morbidity and mortality, but a definitive nonsurgical diagnostic test remains elusive. Despite the widespread use of computed tomography (CT) as a diagnostic adjunct, there is little data that definitively correlate CT findings with the presence of NSTI. Our goal was the development of a CT-based scoring system to discriminate non-NSTI from NSTI.

Medical students' preferences in radiology education a comparison between the Socratic and didactic methods utilizing powerpoint features in radiology education.

Rationale And Objectives: The Socratic method has long been a traditional teaching method in medicine and law. It is currently accepted as the standard of teaching in clinical wards, while the didactic teaching method is widely used during the first 2 years of medical school. There are arguments in support of both styles of teaching.

Imaging of sports-related hip and groin injuries.

A normally functioning hip joint is imperative for athletes who use their lower extremities with running, jumping, or kicking activities. Sports-related injuries of the hip and groin are far less frequent than injuries to the more distal aspect of the extremity, accounting for less than 10% of lower extremity injuries. Despite the lower incidence, hip and groin injuries can lead to significant clinical and diagnostic challenges related to the complex anatomy and biomechanical considerations of this region.