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ABSTRACT Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by CYP21A2 gene mutations, and its molecular diagnosis is widely used in clinical practice to confirm the hormonal diagnosis. Hence, considering the miscegenation of the Brazilian population, it is important to determine a mutations panel to optimise the molecular diagnosis. The objective was to review the CYP21A2 mutations' distribution among Brazilian regions.Two reviewers screened Brazilian papers up to February 2020 in five databases. The pair-wise comparison test and Holm method were used in the statistical analysis. Nine studies were selected, comprising 769 patients from all regions. Low proportion of males and salt-wasters was identified in the North and Northeast regions, although without significant difference. Large gene rearrangements also had a low frequency, except in the Center-West and South regions (p < 0.05). The most frequent mutations were p.I172N, IVS2-13A/C>G, p.V281L and p.Q318X, and significant differences in their distributions were found: p.V281L was more frequent in the Southeast and p.Q318X in the Center-West and Northeast regions (p < 0.05). Thirteen new mutations were identified in 3.8%-15.2% of alleles, being more prevalent in the North region, and six mutations presented a founder effect gene. Genotype-phenotype correlation varied from 75.9%-97.3% among regions. The low prevalence of the salt-wasting form, affected males and severe mutations in some regions indicated pitfalls in the clinical diagnosis. The good genotype-phenotype correlation confirms the usefulness of molecular diagnosis; however, the Brazilian population also presents significant prevalence of novel mutations, which should be considered for a molecular panel.
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Abstract Objective: Stroke is an important cause of disability and death in adults worldwide. However, it is preventable in most cases and treatable as long as patients recognize it and reach capable medical facilities in time. This community-based study investigated students' stroke knowledge, Emergency Medical Services (EMS) activation, associated risk factors, warning signs and symptoms, and prior experience from different educational levels in the KIDS SAVE LIVES BRAZIL project. Methods: The authors conducted the survey with a structured questionnaire in 2019‒2020. Results: Students from the elementary-school (n = 1187, ~13 y.o., prior experience: 14%, 51% women), high-school (n = 806, ~17 y.o., prior experience: 13%, 47% women) and University (n = 1961, ~22 y.o., prior experience: 9%, 66% women) completed the survey. Among the students, the awareness of stroke general knowledge, associated risk factors, and warning signs and symptoms varied between 42%‒66%. When stimulated, less than 52% of the students associated stroke with hypercholesterolemia, smoking, diabetes, and hypertension. When stimulated, 62%‒65% of students recognized arm weakness, facial drooping, and speech difficulty; only fewer identified acute headache (43%). Interestingly, 67% knew the EMS number; 81% wanted to have stroke education at school, and ~75% wanted it mandatory. Women, higher education, and prior experience were associated with higher scores of knowing risk factors (OR = 1.28, 95% CI: 1.10‒1.48; OR = 2.12, 95% CI: 1.87‒2.40; OR = 1.46, 95% CI: 1.16‒1.83; respectively), and warning signs- symptoms (OR = 2.22, 95% CI: 1.89‒2.60; OR = 3.30, 95% CI: 2.81‒3.87; OR = 2.04, 95% CI: 1.58‒2.63; respectively). Conclusion: Having higher education, prior experience, and being a woman increases stroke-associated risk factors, and warning signs and symptoms identification. Schoolchildren and adolescents should be the main target population for stroke awareness. HIGHLIGHTS Higher education, prior experience, and being women improved the odds of identifying stroke warning signs and symptoms as associated risk factors Improving knowledge, skills, and attitude on acute stroke in the school community may represent a significant advance in public health management Future stroke awareness campaigns and educational efforts should focus on schoolchildren and adolescents, especially in low-income countries