Publications by authors named "B W Fam"
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.
Article Synopsis
- 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.
Sapajus libidinosus members of the Pedra Furada group, living in the Serra da Capivara National Park, use stone tools in a wider variety of behaviors than any other living animal, except humans. To rescue the evolutionary history of the Caatinga S. libidinosus and identify factors that may have contributed to the emergence and maintenance of their tool-use culture, we conducted fieldwork seasons to obtain biological samples of these capuchin monkeys.
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- This study looks at special protein variants in primates related to the AVPR2 receptor, which helps manage water in the body.
- The researchers found that some parts of this protein show changes that might help explain a rare kidney problem in humans that causes too much water loss.
- They also discovered that how these proteins evolved is linked to other important proteins, but the changes didn’t seem to depend on the different climates where these primates live.