Background: Patients with familial fibrotic interstitial lung disease (ILD) experience worse survival than patients with sporadic disease. Current guidelines do not consider family aggregation or genetic information in the diagnostic algorithm for idiopathic pulmonary fibrosis or other fibrotic ILDs. Better characterizing familial cases could help in diagnostic and treatment decision-making.
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December 2024
Background: Molecular tests have contributed to reducing the mortality rate through early and accurate diagnosis of tuberculosis (TB). This is due to their low processing complexity and diagnostic accuracy superior to conventional methods.
Objective: To evaluate the diagnostic performance of Cobas MTB and Logix Smart MTB compared to Xpert MTB/RIF Ultra for pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB).
Somatic mosaicism is an important cause of disease, but mosaic and somatic variants are often challenging to detect because they exist in only a fraction of cells. To address the need for benchmarking subclonal variants in normal cell populations, we developed a benchmark containing mosaic variants in the Genome in a Bottle Consortium (GIAB) HG002 reference material DNA from a large batch of a normal lymphoblastoid cell line. First, we used a somatic variant caller with high coverage (300x) Illumina whole genome sequencing data from the Ashkenazi Jewish trio to detect variants in HG002 not detected in at least 5% of cells from the combined parental data.
View Article and Find Full Text PDFFatty acid binding protein 7 (FABP7) is a multifunctional chaperone involved in lipid metabolism and signaling. It is primarily expressed in astrocytes and neural stem cells (NSCs), as well as their derived malignant glioma cells within the central nervous system. Despite growing evidence for FABP7's tumor-intrinsic onco-metabolic functions, its mechanistic role in regulating the brain tumor immune microenvironment (TIME) and its impact on prognosis at the molecular level remain incompletely understood.
View Article and Find Full Text PDFThe COVID-19 pandemic has led many people to turn to self-medication as an accessible and convenient method of managing their health. Thus, this study sought to describe the self-medication practices (SMP) and their risk factors among the Peruvian population during the COVID-19 outbreak. A cross-sectional study was conducted from January to March, 2021, in 3 cities of Peru (Lima, Ica, and Chincha).
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