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Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families.
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http://dx.doi.org/10.1016/j.diabres.2014.08.006 | DOI Listing |
Am J Transl Res
April 2025
Anaesthesiologist and Pain Specialist, Postgraduate Program of Anaesthesiology, Surgical Sciences and Perioperative Medicine, Faculdade de Medicina da Universidade de São Paulo São Paulo, Brazil.
Objectives: To identify the clinical, ethnic, and genetic factors contributing to the varying risks of postoperative nausea and vomiting (PONV) among a Brazilian population undergoing cancer surgery.
Methods: A case-control study was conducted involving 152 patients who experienced vomiting and/or retching (cases) and 158 patients who did not report nausea, vomiting, or retching (controls) within 24 h following oncological surgeries. This study is registered as 'Genetic Polymorphism and postoperative nausea and vomiting (PONV)' under registration number NCT03627780 (https://clinicaltrials.
Vaccines (Basel)
January 2025
Serviço de Reumatologia, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90010-150, RS, Brazil.
Objective: To evaluate the humoral response to and impact of SARS-CoV-2 vaccination in patients with systemic lupus erythematosus in a multicenter cohort design.
Methods: Data for this analysis were obtained from the Study of Safety, Effectiveness and Duration of Immunity after Vaccination against SARS-CoV-2 in Patients with Immune-Mediated Inflammatory Diseases (SAFER), a prospective, multicenter, phase IV, real-world study conducted across different regions of Brazil from June/2021 to March/2024. Patients aged >18 years with systemic lupus erythematosus (SLE) who received any one of the SARS-CoV-2 vaccines approved by the Brazilian health regulatory agency (CoronaVac [inactivated SARS-CoV-2 vaccine], ChAdOx-1 [AstraZeneca], or BNT162b2 [Pfizer-BioNTech]) were included.
PLoS Negl Trop Dis
January 2025
Department of Agricultural and Environmental Sciences, Universidade Estadual de Santa Cruz, Ilhéus, Bahia, Brazil.
Chikungunya virus (CHIKV) is primarily associated with non-human-primates (NHPs) in Africa, which also infect humans. Since its introduction to Brazil in 2014, CHIKV has predominantly thrived in urban cycles, involving Aedes aegypti mosquitoes. Limited knowledge exists regarding CHIKV occurrence and implications in rural and sylvatic cycles where neotropical NHPs are potential hosts, from which we highlight Leontopithecus chrysomelas (Kuhl, 1820), the golden-headed lion tamarin (GHLT), an endangered species endemic to the Atlantic Forest (AF) in Southern Bahia State, Brazil.
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December 2024
Universidade Federal do Maranhão, Postgraduate Program in Colletive Health - São Luís (MA), Brazil.
Objective: To evaluate the heterogeneity in the consumption of fresh or minimally processed foods (FMPF) and ultra-processed foods (UPF) in the Brazilian population ≥10 years of age.
Methods: Cross-sectional study that used data from the food consumption and resident module from the 2017-2018 edition of the Family Budget Survey. Variables relating to sex, region of residence, household status and per capita family income in minimum wages were used.
Int J Dermatol
October 2024
Department of Dermatology, Santa Casa de Curitiba Hospital, Curitiba, Brazil.
Background: Leprosy is a chronic infection with high morbidity in Brazil. Primary care physicians' lack of knowledge about the disease may play a significant role in underdiagnosis. This study aimed to assess primary care physicians' ability to identify typical leprosy skin lesions and their knowledge of the subject.
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