Publications by authors named "Bruno B de Souza"

Article Synopsis
  • The study explores challenges in lung cancer biomarker testing due to tissue inadequacy and operational issues, implementing a tailored molecular testing approach in Brazil.
  • From 1,272 lung cancer samples analyzed, a significant percentage were ineligible for testing due to insufficient tissue quality or quantity, with specific mutations and alterations being most commonly observed.
  • Results suggest that while non-NGS tests provided some diagnostic information, a substantial portion of patients could only access reduced molecular testing coverage, impacting the detection of actionable cancer drivers.
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  • HbSC disease, a milder type of sickle cell disease, can cause serious eye problems like vision loss due to a condition called proliferative retinopathy.
  • Researchers conducted a study to find out how certain genes in patients with this eye disease are different from those without it.
  • They found 134 genes that are expressed differently, which could help understand how to better treat eye issues in these patients.
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Per- and polyfluoroalkyl substances (PFAS) are widely used chemicals that exhibit exceptional chemical and thermal stability. However, their resistance to degradation has led to their widespread environmental contamination. PFAS also negatively affect the environment and other organisms, highlighting the need for effective remediation methods to mitigate their presence and prevent further contamination.

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  • * This study aimed to analyze the gene expression of endothelial colony-forming cells (ECFCs) from SCA patients with and without IS to understand the molecular mechanisms involved in stroke and recovery.
  • * Out of 2469 differentially expressed genes, key pathways related to cell proliferation, migration, and angiogenesis were identified, suggesting an ongoing angiogenic process in patients even after the stroke event, which could inform future treatment strategies.
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Background: Primary open-angle glaucoma (POAG), the world's main cause of irreversible blindness, is an asymptomatic and neurodegenerative disease of multifactorial etiology with ethnic and geographic disparities. Multiethnic genome-wide association studies (GWAS) identified single nucleotide variants (SNVs) in , and loci as risk factors for POAG pathophysiology and/or endophenotypes. The aim of this case-control study was to investigate the association of the variants rs7137828 (), rs2745572 (), and rs35934224 (), as risk factors for POAG development, additionally to rs7137828 association with glaucoma clinical parameters in a Brazilian cohort from the Southeast and South regions.

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Purpose: Glaucoma is the world's leading cause of irreversible blindness, with primary open-angle glaucoma (POAG) being the most prevalent subtype. In recent years, there have been advances in knowledge about the genetics involved in POAG, but genetic studies in admixed populations, such as Brazilians, are still rare. This study aimed to evaluate the association of single nucleotide variants (SNV) of the (rs2472493) and (rs9913911) genes with POAG in a sample of the Brazilian population.

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In freshwater environments the rotifer group may be divided into microphagous and raptorial species regarding their feeding patterns, and such guilds differently interact with other community components. Here, we analyzed the influence of cladocerans, cyclopoid nauplii, temperature, food resources and an exotic species on rotifer guilds, based on weekly samplings for 1 year. We have identified rotifer species and their trophi types in order to separate them into the raptorial and microphagous functional groups.

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Unlabelled: Although sickle cell anemia results from homozygosity for a single mutation at position 7 of the β-globin chain, the clinical aspects of this condition are very heterogeneous. Complications include leg ulcers, which have a negative impact on patients’ quality of life and are related to the severity of the disease. Nevertheless, the complex pathogenesis of this complication has yet to be elucidated.

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Conservation practices in the tropics often rely on the data available for a few, better-known species and the adoption of an appropriate spatial scale. By defining a set of landscape units that account for critical aspects of the focal species, the information available on these conservation targets can support regional conservation policies. Here, we define and classify adjacent landscapes, termed planning units, to orientate management decisions within and among these landscapes, which are occupied by an endangered flagship primate species (Coimbra-Filho's titi monkey, Callicebus coimbrai) from eastern Brazil.

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Article Synopsis
  • Primary angle closure glaucoma (PACG) is a key cause of blindness, prompting a large-scale study involving over 10,000 PACG patients and nearly 30,000 controls across multiple continents.
  • The study identified five new genetic loci associated with PACG risk, each with significant statistical results (e.g., EPDR1 with an odds ratio of 1.24 and a P-value of 5.94 × 10(-15)).
  • Additionally, three previously known genetic loci were confirmed, enhancing the understanding of the genetic factors underlying PACG.
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