Epidemiological profile of individuals with Berardinelli-Seip syndrome hospitalized due to coronavirus disease (COVID-19): a snapshot of four years of the pandemic in Brazil.

• Grant number: 24/20061-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: January 01, 2025
• End date: December 31, 2025
• Field of knowledge: Health Sciences - Collective Health - Epidemiology
• Principal Investigator: Fernando Augusto de Lima Marson
• Grantee: Luiz Felipe de Azevedo Marques
• Host Institution: Universidade São Francisco (USF). Campus Bragança Paulista. Bragança Paulista , SP, Brazil

Abstract

Introduction: Berardinelli-Seip syndrome is classified as one of the 4 types of lipodystrophies, a rare recessive genetic condition associated with the total absence of subcutaneous adipose tissue. It manifests in 4 different phenotypes, depending on the pathogenic variant, leading to various metabolic disorders in affected individuals, such as diabetes mellitus, hypertriglyceridemia, and heart disease. Considering the recent pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it is essential to understand how these individuals were affected compared to other Brazilians, especially since this analysis has been scarcely explored in the literature. Objectives: To describe the clinical, demographic, and outcome aspects of hospitalized patients due to coronavirus disease (COVID-19) diagnosed with congenital generalized lipodystrophy syndrome in Brazil over the four years of the SARS-CoV-2 pandemic. Methods: An epidemiological study will be conducted using open data from the past 4 years, made available by the Brazilian Ministry of Health through the Open-Data-SUS platform (https://opendatasus.saude.gov.br/). The data will be organized to consider (i) demographic, (ii) clinical characteristics, (iii) discharge criteria, and clinical outcome, and to relate this data to the need for an intensive care unit, mechanical ventilation, its type, and death. Expected Results: We believe the COVID-19 pandemic is associated with a worse prognosis for those with comorbidities, especially when these conditions are underexplored in the literature. Thus, we expect to understand how the pandemic affected individuals with congenital generalized lipodystrophy syndrome to establish relationships between this condition and the COVID-19 infection. Finally, this study aims to help bring visibility to citizens with comorbidities unrelated to SARS-CoV-2.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

PALAMIM, CAMILA VANTINI CAPASSO; MARQUES, LUIZ FELIPE AZEVEDO; BOSCHIERO, MATHEUS NEGRI; MARSON, FERNANDO AUGUSTO LIMA. HIV infection in transplant patients in Brazil: An unprecedented and untoward episode. INFECTIOUS DISEASES NOW, v. 55, n. 3, p. 3-pg., 2025-03-05. (24/20061-9)

SANSONE, NATHALIA MARIANA SANTOS; BOSCHIERO, MATHEUS NEGRI; MARQUES, LUIZ FELIPE AZEVEDO; MARSON, FERNANDO AUGUSTO LIMA. The Oropouche fever in Latin America: a hidden threat and a possible cause of microcephaly due to vertical transmission. FRONTIERS IN PUBLIC HEALTH, v. 13, p. 5-pg., 2025-03-26. (24/20061-9)