Publications by authors named "R C Sbruzzi"
Introduction: The COVID-19 pandemic had a widespread global impact and presented numerous challenges. The emergence of SARS-CoV-2 variants has changed transmission rates and immune evasion, possibly impacting the severity. This study aims to investigate the impact of variants on clinical outcomes in southern Brazil.
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- Inborn errors of immunity (IEI) involve various disorders that can be hard to diagnose early, as shown in a Brazilian patient with severe combined immunodeficiency (SCID) diagnosed at 6 months old due to multiple infections.
- After undergoing hematopoietic stem cell transplantation (HSCT), the patient experienced recurrent infections and tested positive for SARS-CoV-2 multiple times over six months.
- Whole exome sequencing revealed a damaging genetic variant in the Janus Kinase 3 (JAK3) gene, suggesting its role in disrupting protein function and contributing to SCID's pathogenesis.
Bacteria-mediated bioremediation is widely employed for its environmental benefits. The genus Burkholderia can degrade persistent organic compounds, however, little is known about its mechanisms. To increase this knowledge, Burkholderia vietnamiensis G4 bacteria were exposed to benzo[a]pyrene, a recalcitrant compound, and the expression of twelve genes of interest was analyzed at 1, 12 and 24 h.
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- The COVID-19 pandemic spurred significant research into how human genetics affects the severity of the disease, revealing key genetic factors that influence outcomes.
- Brazilian studies have specifically highlighted rare genetic variants related to Inborn Errors of Immunity that can lead to severe reactions in COVID-19, as well as other health issues.
- A recent GWAS study identified a new genetic locus linked to COVID-19 severity in Brazilian patients, emphasizing the need for further research into Brazil's genetic diversity to understand COVID-19 and other health conditions better.
During the COVID-19 pandemic, an extraordinary number of nasopharyngeal secretion samples inoculated in viral transport medium (VTM) were collected and analyzed to detect SARS-CoV-2 infection. In addition to viral detection, those samples can also be a source of host genomic material, providing excellent opportunities for biobanking and research. To describe a simple, in-house-developed DNA extraction method to obtain high yield and quality genomic DNA from VTM samples for host genetic analysis and assess its relative efficiency by comparing its yield and suitability to downstream applications to two different commercial DNA extraction kits.
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