Articles: disease.
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Bronchopulmonary dysplasia (BPD) is a chronic lung disease, with its own clinical, radiological, and histopathological characteristics, which mainly affects premature newborns (NBs), resulting from a combination of factors that include immaturity, inflammation, and lung injury, in addition to therapy with mechanical ventilation and exposure to high concentrations of oxygen. However, even with advances in care for critically ill NBs, BPD continues to be a challenge for the care team and family members. This has been identified as one of the most important causes of morbidity and mortality due to prematurity and can have significant impacts on the quality of life of the affected patients. ⋯ Genetic variants in the glutathione S-transferase Mu-1/glutathione S-transferase theta-1-null (GSTM1/GSTT1) genes may be associated with a greater risk of developing BPD in premature NBs, as they affect the function of glutathione S-transferases (GSTs) enzymes and, consequently, the body's ability to eliminate toxic or harmful pro-inflammatory substances. GSTM1/GSTT1-null individuals, due to the absence of gene expression, present loss of enzymatic activity of the respective GST enzymes, triggering failures in the detoxification process and the consequent development of numerous diseases resulting from oxidative damage such as infertility, chronic kidney disease, eryptosis, retinopathy of prematurity, necrotizing enterocolitis, periventricular leukomalacia, intraventricular hemorrhage. The objective of this narrative review was to highlight the role of genetic variants in the GSTM1/GSTT1 genes in the onset of BPD.
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Polygenic risk scores (PRSs) for coronary heart disease (CHD) are a growing clinical and commercial reality. Whether existing scores provide similar individual-level assessments of disease susceptibility remains incompletely characterized. ⋯ CHD PRSs that performed similarly at the population level demonstrated highly variable individual-level estimates of risk. Recognizing that CHD PRSs may generate incongruent individual-level risk estimates, effective clinical implementation will require refined statistical methods to quantify uncertainty and new strategies to communicate this uncertainty to patients and clinicians.
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Randomized Controlled Trial Multicenter Study
Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy.
Transthyretin amyloidosis with cardiomyopathy (ATTR-CM) is a progressive, fatal disease. Vutrisiran, a subcutaneously administered RNA interference therapeutic agent, inhibits the production of hepatic transthyretin. ⋯ Among patients with ATTR-CM, treatment with vutrisiran led to a lower risk of death from any cause and cardiovascular events than placebo and preserved functional capacity and quality of life. (Funded by Alnylam Pharmaceuticals; HELIOS-B ClinicalTrials.gov number, NCT04153149.).