Publications by authors named "Fernanda Rego"
Article Synopsis
- Breast cancer is the top cause of cancer-related deaths among women globally, yet there's a lack of research on metastatic breast cancer (MBC) in low- and middle-income countries, particularly regarding the genomic features of Brazilian patients.
- This study analyzed tumor samples from 328 Brazilian women with estrogen receptor-positive (ER+)/HER2-negative MBC to assess mutations in the PI3K-AKT pathway and other key genetic drivers using advanced sequencing techniques from 2020 to 2023.
- Findings indicated a 39.3% mutation prevalence in the PI3K-AKT pathway, with older patients (over 50) showing increased mutation rates and 6.1% of samples harboring mutations in the PTEN gene, especially in
Background: Elasmobranch populations are declining, predominantly driven by overfishing, and over a third of global sharks, rays, and chimeras are estimated to be threatened with extinction. In terms of trade, Brazil is ranked the eleventh-largest shark producer and the top importer of shark meat in the world. Research has shown that elasmobranchs are sold in Brazil under the name "cação" (a generic designation for cartilaginous fish) to overcome consumer resistance.
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- Whole-genome sequencing (WGS) provides a valuable dataset of 1,171 highly admixed elderly Brazilians, revealing over 76 million genetic variants, including many that are missing from public databases.
- The study identifies around 2,000 new mobile element insertions, nearly 5 Mb of unique genomic segments, and over 140 rare HLA gene alleles, showcasing the utility of WGS in uncovering previously unknown genetic information.
- It highlights the clinical relevance of the findings by reclassifying variants linked to Mendelian disorders and suggests improvements in genomic imputation methods using WGS data from underrepresented populations.
Background: Transposable elements make up a significant portion of the human genome. Accurately locating these mobile DNAs is vital to understand their role as a source of structural variation and somatic mutation. To this end, laboratories have developed strategies to selectively amplify or otherwise enrich transposable element insertion sites in genomic DNA.
View Article and Find Full Text PDFHistopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient.
Int J Endocrinol
February 2018
Ectopic thyroid results from a migration defect of the developing gland during embryogenesis causing congenital hypothyroidism. But it has also been detected in asymptomatic individuals. This study aimed to investigate the histopathological, functional, and genetic features of human ectopic thyroids.
View Article and Find Full Text PDFThe authors present a case of a man with Haemophilus parainfluenzae endocarditis complicated with embolisation to the central nervous system. The patient had no evidence of endocarditis by transoesophageal and transthoracic echocardiograms at baseline, but shortly after developed large mitral valve vegetations with valve rupture. The case highlights how rapidly structural valve damage can ensue despite good clinical and laboratorial antibiotic response.
View Article and Find Full Text PDFBackground: Sickle cell disease (SCD) is characterized by obstruction of microvessels leading to ischemia and necrosis. We have aimed to demonstrate whether myocardial contrast echocardiography (MCE) is able to detect myocardial perfusion abnormalities in SCD patients and to assess their relationship with left ventricle (LV) perfusion and systolic function.
Methods: A group of 25 patients with SCD and a control group of 19 normal individuals were studied.