Articles related to MEDICAL DIAGNOSTICS

Genetic testing identifies causative variants in approximately 65% to 70% of suspected inherited retinal disease cases and may shorten diagnostic delays. Advances in sequencing technologies and expanding testing access continue to shape retinal disease evaluation and counseling.

A patient with obstructive jaundice and persistent suspicion for periampullary malignancy was ultimately found to have multifocal grade 1 pancreatic neuroendocrine tumors after surgical resection. The case highlights the diagnostic limitations of preoperative tissue sampling in selected periampullary lesions.

The FDA approved Freenome’s SimpleScreen CRC blood test for colorectal cancer screening in average-risk adults. Clinical study results showed the test detected roughly 80% of colorectal cancers, though current guidelines continue to favor colonoscopy and stool-based screening options.

A randomized noninferiority trial involving 648 men with MRI-visible prostate lesions found that cognitive fusion biopsy achieved clinically significant prostate cancer detection rates similar to software-based fusion biopsy. Subgroup analyses suggested body mass index may influence the relative performance of each approach.

AI-enabled retinal imaging platforms are being deployed across healthcare settings to identify ocular and systemic disease signals, though the role of these technologies continues to evolve alongside regulatory approvals and clinical validation.

A plasma p-tau217/Aβ42 ratio accurately identified amyloid-PET positivity in older veterans without traumatic brain injury, but diagnostic performance declined substantially among those with a history of TBI, particularly following more severe injuries.