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1.
Arch. endocrinol. metab. (Online) ; 66(1): 112-117, Jan.-Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364296

ABSTRACT

SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition.


Subject(s)
Humans , Female , Thyroid Neoplasms/pathology , Adenomatous Polyposis Coli/diagnosis , Adenomatous Polyposis Coli/genetics , Adenomatous Polyposis Coli/pathology , Genetic Background , Thyroid Cancer, Papillary/genetics
2.
Arch. endocrinol. metab. (Online) ; 65(6): 832-840, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350004

ABSTRACT

ABSTRACT Objective: Although some previous data have suggested a high iodine intake in Brazil, the prevalence of antithyroperoxidase antibodies (TPOAb) in the country is compatible with rates from countries with adequate iodine intake. This observation emphasizes the importance of knowing the incidence of TPOAb in Brazil. Materials and methods: This prospective analysis included euthyroid participants with negative TPOAb at baseline and a thyroid function assessment at a 4-year follow-up. TPOAb was measured by electrochemiluminescence and considered positive when titers were ≥34 IU/mL. TSH and free T4 (FT4) levels were determined by a third-generation immunoenzymatic assay. The incidence of TPOAb is expressed in percentage per year or as a cumulative incidence within the 4-year follow-up period. Results: Of 8,922 euthyroid participants (mean age 51.1 years; 50.9% women) with a negative TPOAb test at baseline, 130 presented incident TPOAb at the 4-year follow-up, yielding an annual incidence of TPOAb of 0.38%/year (95% confidence interval [95% CI], 0.37-0.39%/year) and a cumulative incidence over 4 years of 1.46% (95% CI, 1.21-1.71%). In men, the annual incidence was 0.32% (95% CI, 0.31-0.33%), and the cumulative incidence over 4 years was 1.23% (95% CI, 0.90-1.56%). In women, the annual incidence was 0.43%/year (95% CI, 0.42-0.44%/year) and the cumulative incidence over 4 years was 1.67% (95% CI, 1.30-2.04%). The only factor associated with incident TPOAb was the occurrence of thyroid diseases at follow-up. No differences in TPOAb incidence were detected across ELSA-Brasil research centers. Conclusion: Based on the results of this study, the incidence of TPOAb per year and at a 4-year follow-up period are compatible with those of a country with adequate iodine intake.


Subject(s)
Humans , Male , Female , Adult , Autoantibodies , Iodide Peroxidase , Brazil/epidemiology , Incidence , Follow-Up Studies , Longitudinal Studies , Middle Aged
3.
Arch. endocrinol. metab. (Online) ; 65(4): 468-478, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1339110

ABSTRACT

ABSTRACT Objective: To evaluate incidence of subclinical and overt hyperthyroidism and hypothyroidism. Subjects and methods: The Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) is a prospective cohort study of 15,105 civil servants, examined at baseline and over a 4-year follow-up. This analysis included 9,705 participants with normal thyroid function at baseline, follow-up information about thyroid function and with no report of using drugs that may interfere in the thyroid function. Thyroid function was defined by TSH/FT4 levels or routine use of thyroid hormones/anti-thyroid medications. Annual and cumulative (over 4-year) incidence rates were presented as percentages (95% Confidence Intervals). Results: The incidence of all overt and subclinical thyroid disease was 6.7% (1.73%/year): 0.19% for overt hyperthyroidism (0.048%/year), 0.54% for subclinical hyperthyroidism (0.14%/year), 1.98% for overt hypothyroidism (0.51%/year), and 3.99% for subclinical hypothyroidism (1.03%/year). The incidence of all thyroid diseases was higher in women, when compared to men, with a low women:men ratio (1.36). For Blacks the highest incidence was for overt hyperthyroidism, while for Whites, the highest incidence was for overt hypothyroidism. However, the highest incidence of overt hyperthyroidism was detected in Asian descendants. The presence of antithyroperoxidase antibodies at baseline was associated with higher incidence of overt thyroid diseases. Conclusion: These results showed a high incidence of hypothyroidism, which is compatible with a country with a more-than-adequate iodine intake. The low women:men ratio of the incidence of thyroid dysfunction highlights the importance of the diagnosis of thyroid diseases among men in Brazil.


Subject(s)
Humans , Male , Female , Adult , Thyroid Diseases/epidemiology , Hyperthyroidism/epidemiology , Brazil/epidemiology , Thyrotropin , Incidence , Prospective Studies , Longitudinal Studies
4.
Arch. endocrinol. metab. (Online) ; 63(4): 351-357, July-Aug. 2019. tab, graf
Article in English | LILACS | ID: biblio-1019365

ABSTRACT

ABSTRACT Objective In this study, we aimed to describe the prevalence and distribution of positive antithyroperoxidase antibodies (TPOAb) according to sex, age strata, and presence of thyroid dysfunction using baseline data from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil). Materials and methods Thyroid hormone tests were obtained from each study participant at baseline. Levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were measured using a third-generation immunoenzymatic assay. Antithyroperoxidase antibodies were measured by electrochemiluminescence and were considered to be positive when ≥ 34 IU/mL. Results The prevalence of TPOAb among 13,503 study participants was 12%. Of participants with positive TPOAb, 69% were women. Almost 60% of the individuals with positive TPOAb were white. The presence of positive TPOAb was associated with the entire spectrum of thyroid diseases among women, but only with overt hyperthyroidism and overt hypothyroidism in men. Conclusion The distribution of positive TPOAb across sex, race, age, and thyroid function in the ELSA-Brasil study is aligned with the worldwide prevalence of positive TPOAb reported in iodine-sufficient areas. In women, the presence of TPOAb was related to the entire spectrum of thyroid dysfunction, while in men, it was only related to the occurrence of overt thyroid disease.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Thyroid Diseases/epidemiology , Iodide Peroxidase/blood , Antibodies/blood , Thyroid Diseases/blood , Thyroxine/blood , Brazil/ethnology , Brazil/epidemiology , Thyrotropin/blood , Body Mass Index , Prevalence , Cross-Sectional Studies , Sex Distribution , Age Distribution , Whites/statistics & numerical data
5.
Arch. endocrinol. metab. (Online) ; 62(5): 537-544, Oct. 2018. tab, graf
Article in English | LILACS | ID: biblio-983793

ABSTRACT

ABSTRACT Objective: Recent data indicates an increasing incidence of thyroid cancer not accompanied by a proportional increase in mortality, suggesting overdiagnosis, which may represent a big public health problem, particularly where resources are scarce. This article aims to describe and evaluate the procedures related to investigation of thyroid nodules and treatment and follow-up of thyroid cancer and the costs for the Brazilian public health system between 2008 and 2015. Materials and methods: Data on procedures related to investigation of thyroid nodules and treatment/follow-up of thyroid cancer between 2008 and 2015 in Brazil were collected from the Department of Informatics of the Brazilian Unified Health System (Datasus) website. Results: A statistically significant increase in the use of procedures related to thyroid nodules investigation and thyroid cancer treatment and follow-up was observed in Brazil, though a reduction was noted for procedures related to the treatment of more aggressive thyroid cancer, such as total thyroidectomy with neck dissection and higher radioiodine activities such as 200 and 250 milicuries (mCi). The procedures related to thyroid nodules investigation costs increased by 91% for thyroid ultrasound (p = 0.0003) and 128% in thyroid nodule biopsy (p < 0.001). Costs related to treatment and follow-up related-procedures increased by 120%. Conclusion: The increase in the incidence of thyroid cancer in Brazil is directly associated with an increased use of diagnostic tools for thyroid nodules, which leads to an upsurge in thyroid cancer treatment and followup-related procedures. These data suggest that substantial resources are being used for diagnosis, treatment and follow-up of a potentially indolent condition.


Subject(s)
Humans , Thyroid Neoplasms/economics , Thyroid Neoplasms/epidemiology , Cost of Illness , National Health Programs/economics , Radiotherapy/economics , Radiotherapy/statistics & numerical data , Thyroidectomy/economics , Thyroidectomy/statistics & numerical data , Time Factors , Brazil/epidemiology , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/therapy , Incidence , Retrospective Studies , Risk Factors , Ultrasonography/economics , Ultrasonography/statistics & numerical data
6.
Arch. endocrinol. metab. (Online) ; 62(2): 187-192, Mar.-Apr. 2018. tab, graf
Article in English | LILACS | ID: biblio-887655

ABSTRACT

ABSTRACT Objective We sought to investigate the impact of self-reported fasting duration times on the lipid profile results and its impact on the cardiovascular risk stratification and metabolic syndrome diagnosis. Subjects and methods We analyzed data from all consecutive individuals evaluated in a comprehensive health examination at the Hospital Israelita Albert Einstein from January to December 2015. We divided these patients in three groups, according to the fasting duration recalled (< 8h, 8-12h and > 12h). We calculated the global cardiovascular risk and diagnosed metabolic syndrome according to the current criteria and estimated their change according to fasting duration. Results A total of 12,196 (42.3 ± 9.2 years-old, 30.2% females) patients were evaluated. The distribution of cardiovascular risk was not different among groups defined by fasting duration in both men and women (p = 0.547 for women and p = 0.329 for men). Similarly, the prevalence of metabolic syndrome was not influenced by the fasting duration (p = 0.431 for women and p = 0.166 for men). Conclusion Self-reported fasting duration had no significant impact on the lipid profile results, including triglyceride levels. Consequently, no changes on the cardiovascular risk stratification using the Framingham risk score nor changes on the prevalence of metabolic syndrome were noted.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Triglycerides/blood , Cardiovascular Diseases/diagnosis , Fasting/blood , Risk Assessment/methods , Metabolic Syndrome/diagnosis , Self Report , Reference Standards , Reference Values , Time Factors , Brazil/epidemiology , Cardiovascular Diseases/metabolism , Cardiovascular Diseases/blood , Sex Factors , Prevalence , Reproducibility of Results , Risk Factors , Analysis of Variance , Statistics, Nonparametric , Metabolic Syndrome/blood , Metabolic Syndrome/epidemiology
7.
Einstein (Säo Paulo) ; 15(2): 136-140, Apr.-June 2017. tab, graf
Article in English | LILACS | ID: biblio-891366

ABSTRACT

ABSTRACT Objective To investigate the inter-relation between high sensitivity C-reactive protein and glycated hemoglobin in prediction of risk of obstructive sleep apnea. Methods We included all individuals participating in a check-up program at the Preventive Medicine Center of Hospital Israelita Albert Einstein in 2014. The Berlin questionnaire for risk of obstructive sleep apnea was used, and the high sensitivity C-reactive protein and glycated hemoglobin levels were evaluated. Results The sample included 7,115 participants (age 43.4±9.6 years, 24.4% women). The Berlin questionnaire showed changes in 434 (6.1%) individuals. This finding was associated with high sensitivity C-reactive protein and glycated hemoglobin levels (p<0.001). However, only the association between the Berlin questionnaire result and glycated hemoglobin remained significant in the adjusted multivariate analysis, for the traditional risk factors and for an additional model, including high-density lipoprotein cholesterol and triglycerides. Conclusion The glycated hemoglobin, even below the threshold for diagnosis of diabetes, is independently associated with obstructive sleep apnea syndrome, even after adjustment for obesity and C-reactive protein. These findings suggest a possible pathophysiological link between changes in insulin resistance and obstructive sleep apnea syndrome, independently from obesity or low-grade inflammation.


RESUMO Objetivo Investigar a inter-relação entre proteína C-reativa de alta sensibilidade e hemoglobina glicada na predição do risco de apneia obstrutiva do sono. Métodos Foram incluídos todos os indivíduos participantes do programa de check-up do Centro de Medicina Preventiva Hospital Israelita Albert Einstein em 2014. Foi aplicado o questionário de Berlin sobre risco de apneia do sono, e avaliadas as dosagens de hemoglobina glicada e proteína C-reativa de alta sensibilidade. Resultados Foram incluídos 7.115 participantes (idade 43,4±9,6 anos, 24,4% mulheres). A prevalência de alteração no questionário de Berlin foi de 434 (6,1%). A alteração do questionário de Berlin associou-se positivamente aos resultados da proteína C-reativa de alta sensibilidade e da hemoglobina glicada (p<0,001). No entanto, apenas a associação entre o resultado do questionário de Berlin e a hemoglobina glicada permaneceu significativa na análise multivariada ajustada tanto para fatores de risco tradicionais quanto para um modelo adicional, que incluiu também lipoproteína de alta densidade-colesterol (HDL-c) e triglicérides. Conclusão A hemoglobina glicada, mesmo em valores abaixo do critério diagnóstico para diabetes mellitus, está associada de forma independente ao risco para síndrome da apneia obstrutiva do sono, mesmo após ajuste para obesidade e proteína C-reativa. Estes achados sugerem possível ligação fisiopatológica entre alterações na resistência insulínica e a síndrome da apneia obstrutiva do sono, que independe da obesidade ou inflamação de baixo grau.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , C-Reactive Protein/analysis , Glycated Hemoglobin A/analysis , Sleep Apnea, Obstructive/blood , Triglycerides/blood , Brazil/epidemiology , Prevalence , Cross-Sectional Studies , Surveys and Questionnaires , Risk Factors , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/epidemiology , Inflammation/blood , Lipoproteins, HDL/blood , Obesity/blood
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