Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Background: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Chemoradiotherapy-related carotid artery inflammation in head and neck cancer patients quantified by [F]FDG PET/CT.

Objectives: Radiotherapy (RT) is associated with an increased risk of cardiovascular disease (CVD), but little is known about the mechanism for vascular injury and methods for early detection.

Materials And Methods: We conducted a prospective, pilot study of carotid artery inflammation using F-labeled 2-fluoro-2-deoxy-d-glucose ([F]FDG) PET/CT imaging pre- and 3 months post-RT in head-and-neck cancer (HNC) patients. [F]FDG uptake by the carotid arteries was measured by the maximum and mean target to background ratio (TBR, TBR) and the mean partial volume corrected standardized uptake value (pvcSUV).

Cardiovascular risk and prevention in patients with head and neck cancer treated with radiotherapy.

Background: The underlying contributors to cardiovascular disease (CVD) in patients with head and neck squamous cell carcinoma (HNSCC) are poorly characterized.

Methods: Patients with HNSCC who underwent definitive or adjuvant (chemo)radiation between 2011 and 2013 were retrospectively reviewed. The 10-year risk estimates for a CVD event were calculated according to the Framingham Risk Score (FRS).

Further delineation of the KAT6B molecular and phenotypic spectrum.

KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B.