Genomic analysis has played a significant role in the identification of driver mutations that are linked to disease progression and response to drug treatment in ovarian cancer. A prominent example is the stratification of epithelial ovarian cancer (EOC) patients with homologous recombination deficiency (HRD) characterized by mutations in DNA damage repair genes such as for treatment with PARP inhibitors. However, recent studies have shown that some epithelial ovarian tumors respond to PARP inhibitors irrespective of their HRD or mutation status.
View Article and Find Full Text PDFBackground: Dilated cardiomyopathy (DCM) is a major cause of heart failure and carries a high mortality rate. Myocardial recovery in DCM-related heart failure patients is highly variable, with some patients having little or no response to standard drug therapy. A genome-wide association study may agnostically identify biomarkers and provide novel insight into the biology of myocardial recovery in DCM.
View Article and Find Full Text PDFUnderstanding the function of non-coding genomic sequence variants represents a challenge for biomedicine. Many diseases are products of gene-by-environment interactions with complex mechanisms. This study addresses these themes by mechanistic characterization of non-coding variants that influence gene expression only after drug or hormone exposure.
View Article and Find Full Text PDFInt J Environ Res Public Health
September 2022
In this study, we described the bacterial profile, antibiotic resistance pattern, and laboratory result turnaround time (TAT) in neonates with suspected sepsis from a tertiary-level, military hospital in Accra, Ghana (2017-2020). This was a cross-sectional study using secondary data from electronic medical records. Of 471 neonates clinically diagnosed with suspected sepsis in whom blood samples were collected, the median TAT from culture request to report was three days for neonates who were culture-positive and five days for neonates who were culture-negative.
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