ABSTRACT Objectives: We aimed to investigate the prevalence of the BRAF (V600E) mutation in consecutive cases of papillary thyroid carcinoma (PTC) in patients diagnosed and treated at the Hospital Sao Rafael (Salvador, BA, Brazil) and evaluate its association with clinical and pathological characteristics of PTC. Subjects and methods: We retrospectively enrolled in the study a total of 43 consecutive PTC patients who underwent total thyroidectomy. We performed DNA extraction from formalin-fixed paraffin-embedded (FFPE) tumour tissue samples. Polymerase chain reaction (PCR) and direct sequencing were used to determine BRAF (V600E) mutation status. Univariate and multivariate logistic regression analyses were employed to identify independent associations. Results: The prevalence of BRAF (V600E) mutation was 65.1% (28/43). A high frequency of older patients (p value: 0.004) was observed among the BRAF-mutated PTC group and, in contrast, a low frequency of concurrent Hashimoto's thyroiditis (HT) (p value: 0.011) was noted. Multivariate analysis confirmed that older age (OR: 1.15; 95% CI: 1.00 – 1.33; p value: 0.047) and HT (OR: 0.05; 95% CI: 0.006-0.40; p value: 0.005) were independent factors associated with BRAF (V600E) mutation. Conclusion: We found a high prevalence of BRAF (V600E) mutation in PTC cases. Older age and no concurrent HT were independently associated with BRAF (V600E) mutation.

ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. Results: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). Conclusions: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.

Objectives Iodine deficiency disorder (IDD) is the result of an inadequate dietary intake of iodine, which physiological consequences are endemic goiter and thyroid dysfunction. The objective of this study was to a analyze studies that assessed the status of Brazil’s population iodine nutrition and IDD prevalence. Materials and methods Systematic review using PRISMA statement. Electronic database: PubMed, Medline, SciELO and Lilacs. Quality of studies: Newcastle-Ottawa Scale. Meta-analysis was carried out with R Core Team Statistical Software, version 3.1.0 (2014). The summary measure (WMD) and its confidence interval (CI) of 95% were calculated. The “Funnel plot” graph assessed publication bias and heterogeneity. Results Seventeen papers were eligible: pregnant women (2), school children (9), adults/elderly (4) and preschool children/infants (2). Geographic distribution: North (1), Northeast (1), Midwest (2), Southeast (13), South (3). Twenty-three thousand two hundred seventy-two subjects were evaluated between 1997 and 2013 and all have use urinary iodine (UI) measurement. However, only 7 studies could be included in meta-analysis, all from Southeast region. The overall prevalence of IDD in school children in southeast region was 15.3% (95% CI, 13-35%), however this data had an important heterogeneity, expressed by the I2 Statistic of 99.5%. Conclusion Only few studies have been performed and enrolled populations from south/southeast region of Brazil. The actual IDD prevalence analysis is complex because it was detected bias due influence of individual studies and very high heterogeneity. IDD might still be high in some areas but this remained unknown even after this meta-analysis evaluation. The generation of a national program for analysis of iodine status in all regions is urgently required. Arch Endocrinol Metab. 2015;59(1):13-22