Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.

Three-dimensional single-cell transcriptome imaging of thick tissues.

Multiplexed error-robust fluorescence in situ hybridization (MERFISH) allows genome-scale imaging of RNAs in individual cells in intact tissues. To date, MERFISH has been applied to image thin-tissue samples of ~10 µm thickness. Here, we present a thick-tissue three-dimensional (3D) MERFISH imaging method, which uses confocal microscopy for optical sectioning, deep learning for increasing imaging speed and quality, as well as sample preparation and imaging protocol optimized for thick samples.

Baseline dermoscopic patterns predict long-term changes in nevus diameter and in dermoscopic features.

Background: When monitoring melanocytic neoplasms, the pattern of change may distinguish nevi from melanoma. Anticipating the growth dynamics of nevi based on their dermoscopic pattern is important to make this distinction.

Objective: The primary aim was to examine the association between nevus dermoscopic pattern at baseline and diameter change during long-term monitoring.

Effect of patient-contextual skin images in human- and artificial intelligence-based diagnosis of melanoma: Results from the 2020 SIIM-ISIC melanoma classification challenge.

Background: While the high accuracy of reported AI tools for melanoma detection is promising, the lack of holistic consideration of the patient is often criticized. Along with medical history, a dermatologist would also consider intra-patient nevi patterns, such that nevi that are different from others on a given patient are treated with suspicion.

Objective: To evaluate whether patient-contextual lesion-images improves diagnostic accuracy for melanoma in a dermoscopic image-based AI competition and a human reader study.

Psoas Muscle Volume as an Indicator of Sarcopenia and Disposition in Traumatic Hip Fracture Patients.

Introduction: Sarcopenia, or the loss of lean muscle mass, is associated with increased morbidity and mortality as well as poor surgical outcomes. The aim of our study was to utilize computed tomography imaging to obtain the total psoas volume (TPV) as a potential marker of sarcopenia. We then investigated the relationship between TPV and outcomes in surgically managed hip fracture patients, particularly their discharge disposition.