Articles: function.
-
Osteogenesis imperfecta (OI) is a rare hereditary disease mainly resulting in reduced or altered collagen type I. Collagen type I is a major constituent of the respiratory system, and normal collagen type I is vital for pulmonary tissue function. ⋯ Overall, the admission rates for respiratory diseases were low in the OI cohort, but a higher relative risk of hospitalizations resulting from respiratory disease compared with the general population. Timely diagnosis and treatment of respiratory complications in individuals with OI is warranted.
-
Evaluations of clinical outcomes in service members with mild traumatic brain injury (TBI) sustained in combat have largely focused on neurobehavioral and somatic symptoms, neurocognitive functioning, and psychological/psychiatric health. Questions remain regarding other domains, such as gross or fine motor abilities, that could be impacted and are mission-critical to functional warfighters. ⋯ Assessment of gross motor function reflected a consistent pattern of significantly slower performances for blast and nonblast TBI groups compared to controls, over all follow-up intervals. Fine motor function performance reflected a similar significant difference pattern at 1- and 5-year follow-up intervals, with a reduced difference from control groups at the 10-year follow-up. Maintenance of high-level motor functions, including overall motor speed, coordination, and reaction time, is a primary component for active warfighters, and any motor-related deficits could create an increased risk for the service member or unit. While the service members in this longitudinal study did not meet criteria for any specific clinical motor-related diagnoses or movement disorders, the finding of motor slowing may reflect a subclinical but significant change that could be a focus for intervention to return to preinjury levels.
-
Randomized Controlled Trial Multicenter Study
Zodasiran, an RNAi Therapeutic Targeting ANGPTL3, for Mixed Hyperlipidemia.
Angiopoietin-like 3 (ANGPTL3) inhibits lipoprotein and endothelial lipases and hepatic uptake of triglyceride-rich lipoprotein remnants. ANGPTL3 loss-of-function carriers have lower levels of triglycerides, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and non-HDL cholesterol and a lower risk of atherosclerotic cardiovascular disease than noncarriers. Zodasiran is an RNA interference (RNAi) therapy targeting expression of ANGPTL3 in the liver. ⋯ In patients with mixed hyperlipidemia, zodasiran was associated with significant decreases in triglyceride levels at 24 weeks. (Funded by Arrowhead Pharmaceuticals; ARCHES-2 ClinicalTrials.gov number, NCT04832971.).
-
Approximately 1% to 3% of gastric cancers and 5% of lobular breast cancers are hereditary. Loss of function CDH1 gene variants are the most common gene variants associated with hereditary diffuse gastric cancer and lobular breast cancer. Previously, the lifetime risk of gastric cancer was estimated to be approximately 25% to 83% and for breast cancer it was estimated to be approximately 39% to 55% in individuals with loss of function CDH1 gene variants. ⋯ Among families from North America with germline CDH1 P/LP variants, the cumulative risk of gastric cancer was 7% to 10%, which was lower than previously described, and the cumulative risk of breast cancer among female carriers was 37%, which was similar to prior estimates. These findings inform current management of individuals with germline CDH1 variants.