Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.
View Article and Find Full Text PDFHighly selective inhibitors of cyclin-dependent kinase 4 and 6 (CDK4/6is) have emerged as a standart of care for first- and second-line therapies in combination with endocrine therapy (ET) for HR+/HER2- metastatic breast cancer (MBC) patients. It has been reported that combination therapy is more effective than ET alone and is safe in elderly patients as well as young patients. Nevertheless, elderly and very old patients with HR+/HER2-MBC treated with CDK4/6 inhibitor (CDK4/6i) combinations are relatively underrepresented in randomized controlled trials.
View Article and Find Full Text PDFRev Esp Med Nucl Imagen Mol (Engl Ed)
December 2024
Introduction And Objectives: Tissue attenuation reduces the specificity of the myocardial perfusion imaging single photon emission tomography (SPECT), which leads reduced diagnostic accuracy. The aim of this study is to compare performances of non-attenuation corrected (NAC), computed tomography based-attenuation corrected (AC) and prone images for qualitative and semi-quantitative analysis of myocardial perfusion SPECT in diagnosis of coronary artery disease (CAD).
Materials And Methods: Eightysix patients in whom NAC, AC and prone images were obtained with SPECT at Selcuk University Faculty of Medicine, and whose coronary angiography/CT coronary angiography was completed within 3 months, were retrospectively studied.