Publications by authors named "Flavia A A Carvalho"
Article Synopsis
- Ataxia-telangiectasia (AT) is a rare genetic disorder causing neurological issues, blood vessel irregularities, and a weakened immune system, particularly noted in Latin American patients.
- A study involving 218 patients revealed that the average age for symptoms and diagnosis is about 1 year and 5 years, respectively, with common recurrent airway infections linked to IgA deficiency.
- The study found a mean survival of 24.2 years, with a 20-year survival rate of 52.6%, and higher mortality rates in females and those with low IgG levels, highlighting the importance of assessing immune function in AT patients.
Article Synopsis
- Inherited genetic defects in immune system-related genes can lead to Inborn Errors of Immunity (IEI), which are challenging to diagnose due to overlapping symptoms, making accurate identification of genetic variants essential for effective treatment and counseling.
- This study conducted genetic screening on 13 patients from Brazil's public health system to find associations between genetic variants and patient characteristics, using whole exome sequencing (WES) and a computational framework for analysis.
- The results identified 16 disease-causing variants across nine genes in six different IEI categories, with X-Linked Agammaglobulinemia as the most common disorder in the group.
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Front Cell Infect Microbiol
August 2023
Introduction: Despite the existing data on the Multisystem Inflammatory Syndrome in Children (MIS-C), the factors that determine these patients evolution remain elusive. Answers may lie, at least in part, in genetics. It is currently under investigation that MIS-C patients may have an underlying innate error of immunity (IEI), whether of monogenic, digenic, or even oligogenic origin.
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- - The study investigates why many Brazilians are hesitant about COVID-19 vaccines, aiming to inform better public health policies.
- - Conducted through a qualitative online survey, findings reveal three main reasons for hesitancy: distrust in vaccines, misinformation related to politics, and fears of side effects.
- - The results highlight the challenge of navigating unreliable information and underscore the need for effective communication to improve public understanding of vaccination importance.
Objective: This study aims to assess the trustworthiness of information sources, perception of clear information about the vaccine, and strategies to increase adherence to vaccination to provide managers with information that helps establish effective communication with the population about vaccination.
Method: This is an online survey conducted between January 22 and 29, 2021, preceded by an Informed Consent, that aims to assess vaccine hesitancy, which corresponded to the first week of vaccination initiation to prevent COVID-19 in Brazil. Data were obtained from a questionnaire made available through a free platform and stored in Google Forms and later exported to the SPSS statistical package for analysis.
Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by impaired phagocyte function, recurrent fungal and bacterial infections and granuloma formation in multiple organs. Pediatric myelodysplastic Syndrome (MDS) is a rare hematological stem cell disease that leads to an ineffective hematopoiesis with variable risk of evolution to acute leukemias. Both disorders are rare and have distinct pathophysiologic mechanisms, with no known association.
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- The COVID-19 pandemic has led to significant vaccine hesitancy in Brazil, which needs to be understood to develop effective communication strategies for vaccination.
- An online survey with 173,178 participants revealed a 10.5% rate of vaccine hesitancy, linked to concerns about vaccine efficacy, fear of side effects, and the vaccine's country of origin.
- Key demographics influencing hesitancy included male gender, low education level, and income, with similar confidence levels in Brazil's vaccines, Covishield and CoronaVac, albeit with more skepticism towards the Chinese-made CoronaVac.