Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.

Autosomal dominant Alzheimer's disease (ADAD) is driven by rare variants in APP, PSEN1, and PSEN2. Although more than 200 pathogenic variants in these genes are known to cause ADAD, other variants are benign, may act as risk factors, or may even reduce Alzheimer's disease risk (e.g.

Age, Sex, and Anatomical Location Patterns in Cutaneous Pyogenic Granuloma Cases.

Importance: Cutaneous pyogenic granulomas (PGs) are commonly encountered, benign, vascular tumors, in which epidemiologic factors have been variably reported, in part, due to sample size limitations and a focus on either adult or pediatric patients.

Objective: To assemble a large dataset of pathologically diagnosed PGs across the continuum of age and investigate patterns of PGs by demographic factors, including age, sex, and anatomical location.

Design, Setting, And Participants: This retrospective case series included case reports of patients with pathologically confirmed PGs of cutaneous origin reported between April 1, 2010, to March 31, 2020.

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Pathogenic variants in the receptor tyrosine kinase TIE2, encoded by TEK, are known to cause vascular malformations (VMs). In this study, we retrospectively reviewed the deidentified data generated through clinical NGS testing in our laboratory and found 88 VM cases with a total of 107 clinically significant TEK variants. Among those, 23 unique variants at the amino acid level were identified, including five novel (p.

Evaluating the Role of Indocyanine Green Fluorescence Imaging in Enhancing Safety and Efficacy During Laparoscopic Cholecystectomy: A Systematic Review.

Laparoscopic cholecystectomy (LC) is the standard treatment for gallbladder disease, offering less invasive treatment and quicker recovery. However, bile duct injury (BDI) remains a critical complication. Indocyanine green (ICG) fluorescence imaging has emerged as a valuable technique to improve biliary structure visualization and potentially reduce BDI during LC.