Hypertension and Salt-Restrictive Diet Promotes Low Urinary Iodine Concentration in High-Risk Pregnant Women: Results from a Cross-Sectional Study Conducted After Salt Iodination Reduction in Brazil.

During pregnancy, the demand for daily iodine increases by 50-70% which occurs to reach around 250 µg/day. Limited information is available on the association of high-risk pregnancy (HRP) with urinary iodine concentration (UIC) and variables such as socioeconomic factors. To analyze iodine nutritional status and socioeconomic, demographic and anthropometric characteristics among women with HRP screened at the main referral public health center at Bahia, Brazil, a cross-sectional study was conducted in 241 women with HRP (15-46 years old) in Salvador, Bahia, Brazil. The median UIC (MUIC) was 119 µg/L (25-75th, 58.7-200.4 µg/L), indicating mild iodine deficiency. Low UIC (< 150 µg/L) was detected in 61.8% (n = 149) - 18.3% between 100 and 150 µg/L, 24.5% between 50 and 100 µg/L, and 19.1% with UIC < 50 µg/L. Overall, 53% (n = 128) of our population adhered to a low-salt diet, and 32.5% (n = 77) had hypertension. Among the 73% of hypertensive women adhering to a salt-restricted diet, there was a 112% increased risk of iodine deficiency observed (OR = 2.127; 95% confidence interval [1.178-3.829]; p = 0.011). Adhering to a salt-restricted diet was associated with iodine deficiency (OR = 1.82; 95% confidence interval [1.073-3.088], p = 0,026). Hypertension and salt restriction diet significantly increased susceptibility for iodine deficiency in HRP. Therefore, low-salt diet when prescribed to pregnant women (PW) might be carefully followed by iodine nutritional status assessment or universal preconception iodine supplementation.

Preoperative detection of TERT promoter and BRAFV600E mutations in papillary thyroid carcinoma in high-risk thyroid nodules

ABSTRACT Objectives: This observational study analyzed telomerase reverse transcriptase (pTERT) mutations in 45 fine-needle aspiration (FNA) specimens obtained from thyroid nodules followed by postoperatively confirmation of papillary thyroid cancer (PTC) diagnosis, examining their relationship with clinicopathologic aspects and the BRAFV600E mutation. Subjects and methods: Clinical information was collected from patients who presented to Ribeirao Preto University Hospital for surgical consultation regarding a thyroid nodule and who underwent molecular testing between January 2010 to October 2012. Tests included a DNA-based somatic detection of BRAFV600E and pTERT mutations. Results: We found coexistence of pTERTC228T and BRAFV600E mutations in 8.9% (4/45) of thyroid nodules. All nodules positive for pTERT mutations were BRAFV600E positives. There was a significant association between pTERTC228T/BRAFV600E with older age and advanced stage compared with the group negative for either mutation. Conclusions: This series provides evidence that FNA is a reliable method for preoperative diagnosis of high-risk thyroid nodules. pTERTC228T/BRAFV600E mutations could be a marker of poor prognosis. Its use as a personalized molecular medicine tool to individualize treatment decisions and follow-up design needs to be further studied.

Preoperative detection of TERT promoter and BRAFV600E mutations in papillary thyroid carcinoma in high-risk thyroid nodules.

OBJECTIVES: This observational study analyzed telomerase reverse transcriptase (pTERT) mutations in 45 fine-needle aspiration (FNA) specimens obtained from thyroid nodules followed by postoperatively confirmation of papillary thyroid cancer (PTC) diagnosis, examining their relationship with clinicopathologic aspects and the BRAFV600E mutation. SUBJECTS AND METHODS: Clinical information was collected from patients who presented to Ribeirao Preto University Hospital for surgical consultation regarding a thyroid nodule and who underwent molecular testing between January 2010 to October 2012. Tests included a DNA-based somatic detection of BRAFV600E and pTERT mutations. RESULTS: We found coexistence of pTERTC228T and BRAFV600E mutations in 8.9% (4/45) of thyroid nodules. All nodules positive for pTERT mutations were BRAFV600E positives. There was a significant association between pTERTC228T/BRAFV600E with older age and advanced stage compared with the group negative for either mutation. CONCLUSIONS: This series provides evidence that FNA is a reliable method for preoperative diagnosis of high-risk thyroid nodules. pTERTC228T/BRAFV600E mutations could be a marker of poor prognosis. Its use as a personalized molecular medicine tool to individualize treatment decisions and follow-up design needs to be further studied.

Iodine Nutritional Status in Schoolchildren from Public Schools in Brazil: A Cross-Sectional Study Exposes Association with Socioeconomic Factors and Food Insecurity.

INTRODUCTION: National programs of salt iodization were implemented in Brazil to combat iodine deficiency (ID) in children of school age. Currently, there are limited data in Brazil on those still vulnerable to this deficiency and the state of nutritional iodine status in the northeast region of Brazil, where children are vulnerable to malnutrition. OBJECTIVE: The aim of this study was to analyze the iodine nutritional status, household food insecurity, socioeconomic and demographic characteristics among schoolchildren from the public school system living in state the state of Bahia, Brazil. METHODS: A cross-sectional study was conducted on 1419 schoolchildren in Bahia between the ages of 6 and 14 years old. Anthropometric parameters, urinary iodine concentrations (UIC), and thyrotropin (TSH) measurements were evaluated from blood spots on filter paper. RESULTS: The mean UIC was 206.4 ± 80.5 µg/L, with a median of 221.6 µg/L, indicating sufficient iodine intake in the region. Low urinary iodide concentration (<100 µg/L) was detected in 12.3% of the schoolchildren (n = 174), with 6.2% with mild (<100 µg/L), 3.0% with moderate (20-49 µg/L), and 3.1% with severe ID (<20 µg/L). Moreover, 9.4% (n = 134) had a urinary iodide concentration of >300 µg/L, indicating the coexistence of excessive iodine intake (EII). The mean TSH was 1.0 ± 0.6 mIU/L. The body mass index category "overweight/obesity" was a protective factor against EII (odds ratio [OR] = 0.64 [confidence interval (CI) 0.4-1.0]; p = 0.07). Urban areas (73%) had a mean UIC of 213.1 ± 80 µg/L compared with 176.8 ± 76.1 µg/L in rural areas. The risk for EII increased in children living in a house with more than six people (OR = 1.62 [CI 0.9-2.6]; p < 0.05) and water consumption from shallow wells (OR = 1.70 [CI 0.9-3.1]; p = 0.09). The risk of ID was increased by 70% in schoolchildren who had moderate or severe food insecurity (OR = 1.70 [CI 0.9-3.0]; p > 0.05). CONCLUSION: A significant proportion of schoolchildren still have ID or EII in the northeast region of Brazil, emphasizing the importance of committed public policies to address this problem. Socioeconomic factors and the lack of education about nutritional importance of iodine were important influencing factors in the presence of ID in schoolchildren.

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.

CONTEXT: Thyroid dysgenesis may be associated with loss-of-function mutations in the thyrotropin receptor (TSHR) gene. OBJECTIVES: The aim of this study was to characterize a novel TSHR gene variant found in one patient harboring congenital hypothyroidism (CH) from a cohort of patients with various types of thyroid defects. MATERIALS AND METHODS: This cross-sectional cohort study involved 118 patients with CH and their family members, including 45 with familial and 73 with sporadic diseases. The thyroid gland was normal in 23 patients, 25 patients had hypoplasia, 25 hemithyroid agenesis, 21 had athyreosis, and 21 had ectopy. Genomic DNA was extracted, and 10 exons of the TSHR gene were amplified and sequenced. Mutations in other candidate genes were investigated. Ortholog alignment was performed, and TSHR functional assays were evaluated. RESULTS: We identified one previously unknown missense variation in the hinge region (HinR) of the TSHR gene (p.S304R) in one patient with thyroid hypoplasia. This variant is conserved in our ortholog alignment. However, the p.S304R TSHR variant presented a normal glycosylation pattern and signal transduction activity in functional analysis. CONCLUSION: We report the ocurrence of a novel nonsynonymous substitution in the HinR of the large N-terminal extracellular domain of the TSHR gene in a patient with thyroid hypoplasia. In contrast with four others in whom TSHR mutations of the hinge portion were previously identified, the p.S304R TSHR variation neither affected TSH binding nor cAMP pathway activation. This TSHR gene variant was documented in a CH patient, but the current data do not support its role in the clinical phenotype.