NKX2-1 gene is targeted by H19 lncRNA and is found to be overexpressed in benign nodular goiter tissues.

OBJECTIVE: Nodular goiter may increase the risk of thyroid cancer, but the genetic factors contributing to nodular goiter are not well understood. There is an overexpression of H19 lncRNA in goiter tissue and its target remains unknown. In this study, we attempted to identify a new target for H19 in the context of goiter development. METHODS: Using interaction energy calculations, the interaction between NKX2-1 mRNA and H19 lncRNA was examined. Putative microRNAs were found at the H19 lncRNA target site with the highest affinity for NKX2-1. RNAseq data was analyzed to determine the tissue specificity of gene expression. Samples were taken from 18 goiter and 18 normal tissues during thyroidectomy. The expression of NKX2-1 was determined by RT-qPCR using specific primers. RESULTS: The interaction between NKX2-1 and H19 was characterized by six local base-pairing connections, with a maximum energy of -20.56 kcal/moL. Specifically, the sequence that displayed the highest affinity for binding with H19 overlapped with the binding site of has-miR-1827 to NKX2-1. It was found that NKX2-1 is exclusively co-expressed with H19 in normal thyroid tissue. As compared to adjacent normal tissues, nodular goiter tissues have a significant overexpression of NKX2-1 (relative expression = 1.195, p =  0.038). CONCLUSION: NKX2-1 has been identified as the putative target of H19 lncRNA, which is overexpressed in nodular goiter tissues significantly.

Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.

Objective: Mutations in DICER1 are found in differentiated thyroid carcinoma (DTC) and in multinodular goiter (MNG) at a younger age with other tumors, which characterizes DICER1 syndrome. DICER1 is one driver to DTC; however, it is also found in benign nodules. We speculated that patients with mutations in DICER1 may present long-lasting MNG. Our aim was to investigate the frequency of DICER1 variants in patients with MNG. Subjects and methods: Patients who submitted to total thyroidectomy due to large MNG with symptoms were evaluated. DICER1 hotspots were sequenced from thyroid nodule samples. To confirm somatic mutation, DNA from peripheral blood was also analyzed. Results: Among 715 patients, 154 were evaluated with 56.2 ± 12.3 years old (28-79) and the thyroid volume was 115.7 ± 108 mL (16.2-730). We found 11% with six DICER1 variations in a homo or heterozygous state. Only rs12018992 was a somatic DICER1 variant. All remaining variants were synonymous and likely benign, according to the ClinVar database. The rs12018992 was previously described in an adolescent with DTC, measuring 13 mm. There were no significant differences according to gender, familial history of goiter, age, thyroid volume, TSH and TI-RADS classification between DICER1 carriers. Free T4 were lower in patients with DICER1 polymorphisms (13.77 ± 1.8 vs. 15.44 ± 2.4 pmol/L, p = 0.008), regardless of TSH levels. Conclusion: We conclude that germline DICER1 variants can be found in 11% of large goiters but no second-hit somatic mutation was found. DICER1 is one driver to thyroid lesion and a second-hit event seems unnecessary in the MNG development.

Bocio endotorácico / Endothoracic Goiter

Introducción: Un bocio se considera intratorácico cuando más de un 50 por ciento de la glándula tiroides está en el mediastino, o sea, por debajo del nivel del estrecho torácico superior. Se trata de una enfermedad poco frecuente que padece aproximadamente el 3 por ciento de los pobladores del mundo. La incidencia del bocio nodular ha disminuido debido a la ingestión en algunos países de sal yodada y alimentos ricos en yodo. Esta enfermedad alcanza alrededor del 10 por ciento de las masas mediastínicas. Objetivo: Presentar el caso de un paciente masculino, operado de bocio endotorácico en la provincia de Cienfuegos. Presentación de caso: Se presenta un paciente masculino, de 48 años de edad, que acude a consulta y refiere aumento de volumen del cuello en la región anterior, que se acompaña de decaimiento y en ocasiones disfagia tanto a los alimentos líquidos como a los sólidos. Además, refiere ligera disnea que tolera adecuadamente cuando realiza las actividades de la vida diaria. Por tratarse de una enfermedad poco frecuente, se considera de interés científico publicar el caso para conocimiento de los profesionales dedicados al estudio y tratamiento de las afecciones tiroideas. Conclusiones: El bocio endotorácico es una entidad poco frecuente y en todos los casos requiere de intervención quirúrgica(AU)

Introduction: A goiter is considered intrathoracic when more than 50 percent of the thyroid gland is in the mediastinum; in other words, below the level of the superior thoracic outlet. It is a rare disease that affects approximately 3 percent of the world's population. The incidence of nodular goiter has decreased due to the ingestion of iodized salt and iodine-rich foods in some countries. This disease accounts for about 10 percent of mediastinal masses. Objective: To present the case of a male patient operated on for endothoracic goiter in the province of Cienfuegos. Case presentation: The case is presented of a 48-year-old male patient who comes for consultation referring a volume increase in the anterior neck region, accompanied by decay and sometimes dysphagia to both liquid and solid food. In addition, he reports slight dyspnea that he tolerates adequately when performing daily living activities. Since this is a rare disease, it is considered of scientific interest to publish the case for the knowledge of professionals dedicated to studying and treating thyroid disorders. Conclusions: Endothoracic goiter is a rare entity and, in all cases, requires surgical intervention(AU)

Thyroid Volume in Pregnancy is Associated with Parity, Gestational Age, and Body Mass Index in an Iodine-sufficient Area.

OBJECTIVE: We compared thyroid volume (TV) and presence of nodular goiter (NG) in pregnant vs. non-pregnant women in an iodine-sufficient area. We also evaluated the relationship between gestational age, parity, and TV in the pregnant women group, and determined the 2.5th and 97.5th percentiles of normal TV in pregnancy. METHODS: This cross-sectional study included 299 healthy women (216 pregnant) without previous thyroid diseases. Thyroid ultrasounds were performed and compared between pregnant and non-pregnant women. The range of normal distribution of TV (2.5th and 97.5th percentiles) in pregnancy was determined after excluding individuals with positive thyroid antibodies, NG, and/or abnormal serum thyrotropin (TSH) or free thyroxine (FT4). RESULTS: Thyroid volume was larger among pregnant compared to non-pregnant women (8.6 vs 6.1 cm3; p < 0.001) and was positively correlated with gestational age (rs = 0.221; p = 0.001), body mass index (BMI, rs 0.165; p = 0.002), and FT4 levels (rs 0.118 p = 0.021). Nodular goiter frequency did not differ between the two groups. There was a negative correlation between TV and TSH (rs -0.13; p = 0.014). Thyroid volume was lower among primiparous compared to multiparous patients (7.8 vs 8.9; p < 0.001) and was positively correlated with parity (rs 0.161; p = 0.016). The 2.5th and 97.5th percentiles of TV were 4.23 and 16.47 cm3, respectively. CONCLUSION: Thyroid volume was higher in pregnant compared to non-pregnant women and was positively related to parity, BMI, and gestational age in a normal iodine status population. Pregnancy did not interfere with the development of NG.

OBJETIVO: Comparamos o volume tireoidiano (VT) e a presença de bócio nodular (BN) em mulheres grávidas e não grávidas em uma área suficiente em iodo. Também avaliamos a relação entre idade gestacional, paridade e VT no grupo de gestantes e determinamos os percentis 2,5 e 97,5 de VT normal na gestação. MéTODOS: Este estudo transversal incluiu 299 mulheres saudáveis (216 grávidas) sem doenças tireoidianas prévias. Ultrassonografias de tireoide foram realizadas e comparadas entre mulheres grávidas e não grávidas. A faixa de distribuição normal de VT (percentis 2,5 e 97,5) na gestação foi determinada após a exclusão de indivíduos com anticorpos tireoidianos positivos, BN e/ou tireotropina sérica (TSH) ou tiroxina livre (T4L) anormais. RESULTADOS: O VT foi maior entre as gestantes em comparação com as mulheres não grávidas (8,6 vs 6,1 cm3; p < 0,001) e foi positivamente correlacionado com a idade gestacional (rs = 0,221; p = 0,001), índice de massa corporal (IMC, rs 0,165; p = 0,002) e níveis de T4L (rs 0,118 p = 0,021). A frequência de BN não diferiu entre os dois grupos. Houve correlação negativa entre VT e TSH (rs -0,13; p = 0,014). O VT foi menor entre as primíparas em comparação com as multíparas (7,8 vs 8,9; p < 0,001) e foi positivamente correlacionado com a paridade (rs 0,161; p = 0,016). Os percentis 2,5 e 97,5 de VT foram 4,23 e 16,47 cm3, respectivamente. CONCLUSãO: O VT foi maior em gestantes em comparação com mulheres não grávidas e foi positivamente relacionado à paridade, IMC e idade gestacional em uma população com status iódico normal. A gravidez não interferiu no desenvolvimento de BN.

Manejo del paciente con Hipertiroidismo en consulta externa de la Unidad Técnica de Endocrinología del Hospital Carlos Andrade Marín / Management of the patient with hyperthyroidism in the outpatient clinic of the Technical Unit of Endocrinology of the Endocrinology Technical Unit of the Carlos Andrade Marín Hospital

El hipertiroidismo es un trastorno caracterizado por el exceso de hormonas tiroideas. El déficit de yodo es un factor clave en dicha patología y en lugares con suficiencia del mismo se asocian a au-toinmunidad tiroidea. La prevalencia de hipertiroidismo mani-fiesto varía del 0,2% al 1,3% en áreas con suficiencia de yodo, sin embargo, esto puede variar en cada país por diferencias en umbrales de diagnóstico, sensibilidad de ensayo y población se-leccionada. Un reporte de The Third National Health and Nutri-tion Examination Survey (NHANES III) mostró que el hiperti-roidismo manifiesto se presenta en 0,7% de la población general e hipertiroidismo subclínico en el 1,7%1,2.En incidencia, la patología se asocia con la suplementación de yodo, con la mayor frecuencia en áreas de deficiencias, por au-mento de nódulos tiroideos en la población anciana, teniendo a regiones de áreas montañosas como América del Sur, África Central y suroeste de Asia dentro de este grupo. Un meta aná-lisis de estudios europeos mostró una incidencia general de 50 casos por 100000 personas/años1. En Ecuador, según los datos del Instituto Nacional de Estadísticas y Censos (INEC) del 2017, se reportaron 157 casos de hipertiroidismo, de los cuales la En-fermedad de Graves (EG) fue la causa más común, seguida por el bocio multinodular tóxico (BMNT) y finalmente el adenoma tóxico (AT) con una incidencia de 61 %, 24 % y 14 % respecti-vamente3.Los pacientes con esta patología tienen aumento de riesgo com-plicaciones cardiovasculares y mortalidad por todas las causas, siendo falla cardíaca uno de sus principales desenlaces, así el diagnóstico precoz evita estos eventos, principalmente en pobla-ción de edad avanzada.El presente protocolo se ha realizado para un correcto trata-miento de esta patología en el Hospital de Especialidades Carlos Andrade Marín (HECAM).

Hyperthyroidism is a disorder characterized by an excess of thyroid hormones. Iodine deficiency is a key factor in this pa-thology and in places with iodine deficiency it is associated with thyroid autoimmunity. The prevalence of overt hyperthyroidism varies from 0,2% to 1,3% in iodine-sufficient areas; however, this may vary from country to country due to differences in diag-nostic thresholds, assay sensitivity, and selected population. A report from The Third National Health and Nutrition Examina-tion Survey (NHANES III) showed that overt hyperthyroidism occurs in 0,7% of the general population and subclinical hyper-thyroidism in 1,7%1,2.In incidence, the pathology is associated with iodine supplemen-tation, with the highest frequency in areas of deficiencies, due to increased thyroid nodules in the elderly population, having regions of mountainous areas such as South America, Central Africa and Southwest Asia within this group. A meta-analysis of European studies showed an overall incidence of 50 cases per 100000 person/years1. In Ecuador, according to data from the National Institute of Statistics and Census (INEC) in 2017, 157 cases of hyperthyroidism were reported, of which, Graves' di-sease (GD) was the most common cause, followed by toxic mul-tinodular goiter (BMNT) and finally toxic adenoma (TA) with an incidence of 61 %, 24 % and 14 % respectively3.Patients with this pathology have an increased risk of cardiovas-cular complications and all-cause mortality, with heart failure being one of the main outcomes, so early diagnosis avoids these events, mainly in the elderly population.The present protocol has been carried out for the correct treat-ment of this pathology at the Carlos Andrade Marín Specialties Hospital (HECAM).

Development and validation of the clinical report form for nodular thyroid pathologies.

Objective: The aim of this study is to develop and validate a novel clinical report form in the format of a structured interview to enable the characterization of the Portuguese population of the Baixo Vouga region with different subtypes of nodular thyroid pathologies (NTyPs). Materials and methods: A structured interview was developed and to the best of our knowledge, this is the first structured interview built and validated for that purpose in Portugal. Results: This structured interview enables the identification of possible correlations between each subtype of nodular lesions and sociodemographic data, consumption habits and lifestyle, endocrine history, and family predisposition. Conclusion: The novel structured interview will simultaneously, enable a detailed characterization of the group of patients with nodular thyroid lesions and will support future metabolomic studies.

Subacute thyroiditis and rapidly developing goiter in a 16-year-old female: a case report / Tiroiditis Sub-aguda asociada a bocio nodular en una paciente de 16 años; reporte de un caso

Subacute thyroiditis (SAT) is an inflammatory disease of the thyroid gland with multiple etiologies and clinical features, often challenging to recognize. The classic presentation is the painful, granulomatous thyroiditis (DeQuervain's) characterized by diffuse swelling of the gland, usually preceded by an upper respiratory tract infection. A painless variant, also referred to as autoimmune subacute thyroiditis, has been documented and is strongly linked to postpartum state, reported following ~10% of pregnancies. It can be differentiated from the former by the presence of anti-thyroid antibodies, which classifies it as an autoimmune thyroiditis. Any spontaneous development of painful swelling of the thyroid gland warrants a complete work up that includes thyroid hormones, thyroid autoimmune panel, acute phase reactant titers, and, if available, imaging that may lead to the diagnosis of an inflammatory or infectious cause of thyroiditis.

Tiroiditis Subaguda, es una enfermedad inflamatoria de la glándula Tiroides que tiene muchas etiologías y características clínicas, y frecuentemente difícil de reconocer. La presentación clásica es: tiroiditis granu-lomatosa dolorosa caracterizada de hinchazón difusa de la glándula del Tiroides, usualmente precedida de una infección respiratoria de las vías áreas superior (como una infección viral). Existe una variante sin dolor, tam-bién referida como tiroiditis subaguda autoinmune, ha sido documentado y es muy ligada al estado postparto, en un 10% de los embarazos. La Tiroiditis postparto Puede ser diferenciada de la anterior por la presencia de anticuerpos lo que la clasifica como una tiroiditis auto-inmune. Cualquier desarrollo espontaneo de una hin-chazón dolorosa de la tiroides garantiza su evaluación de una manera formal, que incluye las hormonas del tiroides, panel tiroideo de autoinmunidad títulos de los factores que reaccionan agudamente, y si está disponible imágenes como una ultrasonografía que conlleva al di-agnóstico de una Tiroiditis inflamatoria o de origen in-feccioso.

Differential gene expression profile of multinodular goiter.

INTRODUCTION: The goiter, a neglected heterogeneous molecular disease, remains a major indication for thyroidectomies in its endemic regions. OBJECTIVES: This study analyzed differential gene expression in surgical specimens diagnosed with multi nodular and compared the data to that of thyroid tissue without multinodular goiter from patients undergoing thyroidectomy in Manaus-AM, Brazil using RNA-seq technology. METHODOLOGY: The transcriptome information of the surgical specimen fragments with and without multinodular goiter was accessed by Illumina HiSeq 2000 New Generation Sequencing (NGS) using the RNA-seq NEBNext® Ultra™ RNA Library Prep Kit for Illumina®-#E7530L protocol and differential gene expression analysis. RESULTS: Differences were found between the gene expression profiles of the diseased tissues and those of the healthy control tissues; at least 70 genes were differentially expressed. The HOTS gene was expressed only in multinodular goiter tissues (p < 0.05). CONCLUSION: These results demonstrate that the gene expression profile of multinodular goiter is pro-tumoral and that HOTS can play a central role in multinodular goiter development.

Bocio multinodular ectópico submandibular: a propósito de un caso y revisión de la literatura / Submandibular ectopic multinodular goiter: case report and literature review

Resumen El tiroides ectópico es una alteración congénita infrecuente que presenta una prevalencia entre 1/100.000-1/300.000. En el 90% de los casos se encuentra en la línea media cervical, siendo los casos de tiroides ectópico cervical lateral muy infrecuentes. Presentamos el caso de una paciente de 44 años que consultó por presentar una tumoración submandibular izquierda de más de seis meses de evolución. Las pruebas de imagen (ecografía, tomografía computarizada y gammagrafía) sugirieron un bocio ectópico multinodular; la punción aspiración con aguja fina (PAAF) informó de tejido tiroideo sin atipias (Bethesda II) y el estudio sanguíneo de hormonas tiroideas fue normal, orientando finalmente el caso como un bocio multinodular ectópico submandibular eutiroideo. Ante la ausencia de síntomas y signos sugerentes de malignidad, en conjunto con una PAAF con características de benignidad, se decidió realizar seguimiento. En el momento que presentó clínica por efecto masa se decidió realizar la exéresis de la lesión, que confirmó el diagnóstico de bocio multinodular ectópico. Los casos descritos en la literatura de bocio multinodular ectópico submandibular como único tejido tiroideo funcionante son excepcionales. El tiroides ectópico se debe considerar en el diagnóstico diferencial de una masa submandibular. Aunque actualmente no existe un consenso en relación con el manejo de dicha patología, el crecimiento de la masa puede contribuir a la decisión de una exéresis completa del tiroides ectópico, aun tratándose del único tejido tiroideo funcionante.

Abstract Ectopic thyroid is an uncommon congenital disorder with a prevalence between 1/100,000-1/300,000. In 90% of cases, it is placed in cervical midline, being the cases of lateral cervical ectopic thyroid very infrequent. We present the case of a 44-year-old female patient who had a left submandibular mass during more than six months. Imaging tests (ultrasound, computed tomography and scintigraphy) suggested a multinodular ectopic goiter; fine needle aspiration (FNA) reported thyroid tissue without atypia (Bethesda II) and the thyroid hormone blood tests were normal, finally orienting the case as a euthyroid submandibular ectopic multinodular goiter. In the absence of symptoms and signs suggestive of malignancy, together with an FNA with benign characteristics, it was decided to follow up. When the patient presented clinical symptoms due to mass effect, it was decided to perform excision of the lesion, which confirmed the diagnosis of ectopic multinodular goiter. There are very few cases described in the literature of submandibular ectopic multinodular goiter as the only functioning thyroid tissue. Ectopic thyroid should be considered in the differential diagnosis of a submandibular mass. Although there is currently no consensus on the management of this pathology, the growth of the mass may contribute to the decision of a complete excision of the ectopic thyroid, even if it is the only functioning thyroid tissue.

Bocio endotorácico en un adulto / Endothoracic goiter in an adult

Se presenta el caso clínico de un paciente de 48 años de edad, quien acudió a la consulta de Patología de Tiroides del Hospital Provincial Dr. Gustavo Aldereguía Lima de Cienfuegos, por presentar aumento de volumen del cuello en la región anterior, decaimiento, ocasionalmente disfagia y ligera disnea. Al examen físico se constató un tumor en la región anteroinferior y lateral derecha del cuello, movible, que se prolongaba hacia abajo a la parte superior del tórax. Se realizó hemitiroidectomía derecha con exéresis de la prolongación endotorácica. El paciente evolucionó favorablemente.

The case report of a 48 years patient is presented. He went to the Thyroid Pathology Service of Dr. Gustavo Aldereguía Lima Provincial Hospital from Cienfuegos, due to an increase of volume in the anterior region of the neck, weakness, occasionally deglutition disorders and light dyspnea. A tumor was verified in the anteroinferior and lateral right region of the neck, movable, that was prolonged downward to the superior part of the thorax when the physical exam was carried out. A right hemithyroidectomy was carried out with exeresis of the endothoracic extension. The patient had a favorable clinical course.

Perfil clínico e terapêutico dos pacientes com hipertireoidismo do ambulatório de endocrinologia de um hospital universitário do sul do Brasil / Perfil clínico e terapêutico dos pacientes com hipertireoidismo do ambulatório de endocrinologia de um hospital universitário do sul do BrasilClinical and therapeutic profile of patients with hyperthyroidism in an outpatient endocrine clinic at a university hospital in southern Brazil

.Introdução: O hipertireoidismo decorre da elevação sérica dos hormônios tireoidianos, secundária à hiperfunção da glândula tireoide, sendo as principais causas a Doença de Graves (DG) e os Bócios Nodulares Tóxicos (BNT). Objetivos: Avaliar o perfil clínico e modalidades terapêuticas aplicadas em pacientes com diagnóstico de hipertireoidismo acompanhados em um Hospital Universitário no Sul do Brasil. Métodos: Estudo observacional, transversal e descritivo, com inclusão de pacientes com diagnóstico de hipertireoidismo por DG e BNT; foram coletados dados epidemiológicos, clínicos, laboratoriais e de tratamento. Resultados: A maioria dos pacientes foi referenciada pela atenção primária e encontrava-se em uso prévio de droga antitireoidiana (DAT). A variável idade obteve diferença estatisticamente significativa entre as etiologias de DG e BNT; em ambas houve predomínio de incidência no sexo feminino. A DG apresentou maior frequência de sinais e sintomas de tireotoxicose, ao passo que o BNT mostrou mais sinais e sintomas de compressão. Houve remissão da doença em 23,2% dos pacientes com DG tratados com DAT; em 23,2% dos pacientes optou-se pela manutenção de metimazol em baixa dose por mais de 36 meses e em 16,1% foi realizado tratamento definitivo. No BNT foram preferidas terapias definitivas, principalmente a tireoidectomia, em 27,5% dos pacientes. Doses baixas de metimazol por mais de 36 meses foram utilizados também no BNT, em 22,5% dos pacientes. Conclusão: O hipertireoidismo é uma doença heterogênea, desde a clínica inicial até a terapêutica, entre suas etiologias mais prevalentes. Observou-se uma tendência de priorizar as terapias medicamentosas em longo prazo com baixas doses, tanto na DG quanto no BNT. (AU)

Perfil clínico e terapêutico dos pacientes com hipertireoidismo do ambulatório de endocrinologia de um hospital universitário do sul do BrasilClinical and therapeutic profile of patients with hyperthyroidism in an outpatient endocrine clinic at a university hospital in southern Brazil ARTIGO ORIGINALRafael Antonio Parabocz1, Renata Soares Carvalho1, Gianna Carla Alberti Schrut1, Ana Claudia Garabeli Cavalli Kluthcovsky1, Matheo Augusto Morandi Stumpf1Introduction: Hyperthyroidism results from the serum elevation of thyroid hormones, secondary to hyperfunction of the thyroid gland. The main causes are Graves' disease (DG) and Toxic Nodular Goiters (BNT). Objectives: Evaluate the clinical profile and therapeutic modalities applied in patients diagnosed with hyperthyroidism followed up at a University Hospital in Southern Brazil. Methods: Observational, cross-sectional and descriptive study, including patients diagnosed with hyperthyroidism by DG and BNT; epidemiological, clinical, laboratory and treatment data were collected. Results: Most patients were referred by primary care and had been using antithyroid drugs (DAT). The age variable obtained showed a statistically significant difference between the etiologies of DG and BNT; in both, there was a predominance of incidence in females. DG showed a higher frequency of signs and symptoms of thyrotoxicosis, while BNT showed more signs and symptoms of compression. There was remission of the disease in 23.2% of patients with DG treated with DAT; in 23.2% of the patients, low-dose methimazole was maintained for more than 36 months and in 16.1%, definitive treatment was performed. In BNT, definitive therapies were preferred, mainly thyroidectomy, in 27.5% of patients. Low doses of methimazole for more than 36 months were also used in BNT in 22.5% of patients. Conclusion: Hyperthyroidism is a heterogeneous disease, from initial clinic to therapy, among its most prevalent etiologies. There was a tendency to prioritize long-term drug therapies with low doses, both in DG and BNT. (AU)

Tiroidectomía y paratiroidectomía endoscópica transoral con abordaje vestibular(TOETVA TOEPVA): Experiencia inicial en el Hospital Universitario Austral / Transoral endoscopic thyroidectomy and parathyroidectomy vestibular approach (TOETVA TOEPVA): intial experience in Hospital Universitario Austral

RESUMEN Antecedentes: la cervicotomía de Kocher ha sido el abordaje clásico para la cirugía tiroidea y paratiroidea. El aumento en la preocupación por la cicatriz cervical ha generado un interés creciente por disminuir su tamaño o trasladarla a lugares menos visibles. Anuwong publica 60 casos de TOETVA/TOEPVA en 2016, con resultados óptimos. Objetivos: comunicar la experiencia con la tiroidectomía y paratiroidectomía transoral endoscópica con abordaje vestibular en el Hospital Universitario Austral. Material y métodos: análisis retrospetivo, sobre base prospectiva, de 18 procedimientos, entre mayo de 2019 y marzo de 2020. Se realizaron 2 paratiroidectomías, 13 lobectomías, 4 tiroidectomías totales, una con linfadenectomía central; una paciente presentó 2 patologías (adenoma paratiroideo y nódulo tiroideo). Citología según Bethesda: categoría II: 7; indeterminada: 1 y categoría VI: 9. Resultados: 18 pacientes femeninas. Mediana de edad: 41 años. Media del tamaño nodular: 30 mm. Volumen glandular medio: 24 mL. Conversión: 1 caso. Promedio de tiempo quirúrgico: lobectomía, 260 minutos; tiroidectomía total, 262 minutos. Histología definitiva: carcinoma papilar, 11; bocio nodular, 6; adenoma paratiroideo, 2. Complicaciones: equimosis leve, 12 pacientes; hipoparatiroidismo transitorio, 1 caso; paresia recurrencial transitoria, 1 caso; hiposensibilidad mentoniana transitoria, 1 caso. Dos casos de tiroidectomía total por cáncer: tiroglobulina a las 6 semanas < 0,1 μUI/mL. Conclusiones: 1) Es un abordaje seguro y ofrece resultados cosméticos excelentes. 2) Puede implementarse con equipamiento endoscópico convencional, con curva de aprendizaje corta y escasa morbilidad. 3) Alternativa para el tratamiento del carcinoma papilar de bajo riesgo. 4) Es prioritario garantizar la seguridad del paciente.

ABSTRACT Background: Kocher's cervicotomy has been the classic approach for thyroid and parathyroid surgery. The greater concern about neck scarring has generated an increasing interest in reducing scar size or leaving the scar in less visible places. In 2016 Anuwong published 60 cases of TOETVA/TOEPVA with optimal outcomes. Objectives: The aim of this study is to report the initial experience with transoral endoscopic thyroidectomy and parathyroidectomy vestibular approach in Hospital Universitario Austral. Material and methods: We conducted a retrospective analysis of 18 prospective procedures performed between May 2019 and March 2020. The procedures performed were 2 parathyroidectomies, 13 lobectomies, 4 total thyroidectomies, 1 with central lymph node dissection; one patient presented a parathyroid adenoma and a benign thyroid nodule. Cytology report according to the Bethesda system: category II in 7 cases, VI in 9 and indeterminate in 1. Results: 18 female patients. Median age: 41 years. Mean nodule size: 30 mm. Mean gland volume: 24 mL. Conversion. 1 case. Mean operative time: lobectomy, 260 minutes; total thyroidectomy, 262 minutes. Definite histology: papillary thyroid carcinoma,11; benign nodular goiter, 6; parathyroid adenoma, 2. Complications: mild ecchymosis, 12 patients; temporary hyperparathyroidism, 1 case; temporary recurrent laryngeal palsy, 1 case; temporary numbness of the mental region in 1 case. In the two cases undergoing total thyroidectomy due to cancer, thyroglobulin level 6 weeks after surgery was < 0.1 μIU/mL. Conclusions: 1) The transoral approach is a safe and feasible procedure that offers excellent cosmetic results. 2) It can be implemented using conventional endoscopic equipment, has a short learning curve and low morbidity rate. 3)It constitutes an alternative for the treatment of low-risk papillary thyroid carcinoma. 4) Patient's safety should be guaranteed.

Neoplasias foliculares del tiroides. Correlación citopatológica / Follicular thyroid neoplasia. Cytopathological correlations

RESUMEN Introducción: la citología con aguja fina se mantiene como el estudio fundamental ante un nódulo tiroideo, pero el diagnóstico de neoplasia folicular es aún su punto débil para definirlo. Se mantiene como conducta su extirpación quirúrgica para alcanzarlo. Objetivo: determinar la correlación citopatológica en las neoplasias foliculares del tiroides. Materiales y métodos: se realizó un estudio prospectivo y descriptivo que incluyó a 80 pacientes operados con diagnóstico citológico de neoplasia folicular del tiroides, en el Hospital "Comandante Faustino Pérez" de la ciudad de Matanzas, de marzo del 2012 a febrero del 2016. Se evaluaron las variables: edad, sexo, tamaño, localización, número de nódulos y diagnóstico histológico definitivo. Resultados: predominaron las lesiones benignas con 56 para el 70 % dentro de ellas, los bocios multinodulares con 33,75 % y los adenomas foliculares con el 31,25 %. Los tumores malignos ocuparon el 30 %. El carcinoma papilar, variedad folicular con 12 para el 15 %, seguido del carcinoma papilar clásico con 10 para el 12,50 %. Conclusiones: el porcentaje de malignidad de este estudio fue del 30 % con predominio del carcinoma papilar variedad folicular y el carcinoma papilar clásico. Entre las lesiones benignas predominaron los bocios multinodulares y los adenomas foliculares (AU).

ABSTRACT Introduction: fine needle cytology is still the main study against a thyroidal nodule, but the follicular neoplasia diagnosis is still its weak point to define it. The surgical removal keeps being used to reach it. Objective: to determine the cytopathological correlation in follicular thyroid neoplasia. Materials and methods: a prospective, descriptive study was carried out including 80 patient with diagnosis of follicular thyroid neoplasia in the Hospital "Comandante Faustino Pérez" of Matanzas, who underwent a surgery from March 2012 to February 2016. The assessed variables were age, sex, size, location, quantity of nodes and final histological diagnosis. Results: benign lesions predominated, with 56 for 70 %; among them, multinodular goiters with 33.75 % and follicular adenomas with 31.25 %. Malignant tumors were 30 %: papillary carcinoma, follicular variety with 12 for 15 %, followed by the classical papillary carcinoma with 10 for 12.50 % Conclusions: the malignity percent of this study was 30 % with the predominance of the papillary carcinoma, follicular variant and the classic papillary carcinoma. Multinodular goiters and follicular adenomas predominated among the benign lesions (AU).

Bocio Intratorácico / Intrathoracic goiter

El bocio intratorácico se define como aquel bocio que se encuentra parcial o totalmente en el mediastino; su incidencia está en relación con el bocio multinodular. Es asintomático entre el 20­30%. Su diagnóstico se hace por pruebas de imagen; su Gold estándar es la tomografía axial computarizada. El tratamiento más efectivo y recomendado es la cirugía, sobre todo para pacientes con síntomas opresivos o con sospecha de malignidad y bocios hiperfuncionantes en quienes el tratamiento farmacológico no fue exitoso. Se detalla el caso de una paciente de 59 años de edad, quien, con síntomas opresivos esternales, a quien se le diagnostica masa mediastínica, la cual se resuelve con indicación quirúrgica, siendo resolutiva para la paciente, con mejoras en la sintomatología y diagnostico de benignidad. (AU)

Intrathoracic goiter is defined as partially or totally in the mediastinum; its incidence is related to multinodular goiter. It is asymptomatic in 20-30%. Its diagnosis is made by imaging tests; the gold standard is computerized axial tomography. Treatment can be pharmacological with risk of recurrence; the most effective and recommended is surgery, especially for patients with oppressive symptoms or with suspected malignancy. We present the case of a 59-year-old patient with sternal oppressive symptoms, who is diagnosed with a mediastinal mass, which resolved by surgery, with improvements in symptoms and a diagnosis of benignity. (AU)

Hepatotoxicidade induzida por azatioprina em portadora da síndrome de Vogt-Koyanagi-Harada / Azathioprine-induced hepatotoxicity in a Vogt-Koyanagi-Harada syndrome patient

Este relato teve como objetivo apresentar um caso de hepatotoxicidade colestática induzida por azatioprina em portadora da síndrome de Vogt-Koyanagi-Harada. À admissão, apresentava icterícia +3/+4, acolia fecal e colúria, além de aumento de marcadores hepáticos, sendo compatível com síndrome colestática, cuja etiologia foi confirmada após exclusão de outras causas possíveis e retirada da azatioprina. A paciente evoluiu, após 1 semana de retirada do fármaco, com diurese livre de coloração menos escura e evacuação presente, sem acolia. Além disso, houve melhora nos exames que precederam a alta hospitalar

This report aimed at presenting a case of azathioprine-induced cholestatic hepatotoxicity in a patient with Vogt-Koyanagi-Harada syndrome. On admission, she presented with jaundice +3/+4, acholic feces, and choluria, as well as increased hepatic markers, all consistent with cholestatic syndrome, the etiology of which was confirmed after other possible causes were ruled out and azathioprine was discontinued. After 1 week of the drug discontinuation, the patient progressed with free diuresis of lighter color and defecation, with no acholia. In addition, tests performed before discharge were improved.

VEGFA and NFE2L2 Gene Expression and Regulation by MicroRNAs in Thyroid Papillary Cancer and Colloid Goiter.

Deregulation of VEGFA (Vascular Endothelial Growth Factor A) and NFE2L2 (Nuclear Factor (Erythroid-derived 2)-Like 2), involved in angiogenesis and oxidative stress, can lead to thyroid cancer progression. MiR-17-5p and miR-612 are possible regulators of these genes and may promote thyroid disorders. In order to evaluate the involvement of VEGFA, NFE2L2, hsa-miR-17-5p, and hsa-miR-612 in thyroid pathology, we examined tissue samples from colloid goiter, papillary thyroid cancer (PTC), and a normal thyroid. We found higher levels of VEGFA and NFE2L2 transcripts and the VEGFA protein in goiter and PTC samples than in normal tissue. In the goiter, miR-612 and miR-17-5p levels were lower than those in PTC. Tumors, despite showing lower VEGFA mRNA expression, presented higher VEGFA protein levels compared to goiter tissue. In addition, NRF2 (Nuclear Related Transcription Factor 2) protein levels in tumors were higher than those in goiter and normal tissues. Inhibition of miR-17-5p resulted in reduced NFE2L2 expression. Overall, both transcript and protein levels of NFE2L2 and VEGFA were elevated in PTC and colloid goiter. Hsa-miR-612 showed differential expression in PTC and colloid goiter, while hsa-miR-17-5p showed differential expression only in colloid goiter, suggesting that hsa-miR-17-5p may be a positive regulator of NFE2L2 expression in PTC.

Thyroid gland changes in patients with acromegaly.

OBJECTIVE: Acromegaly is characterized by high neoplastic morbidity as a side effect of growth hormone (GH) hypersecretion. Increased incidence of goiter, thyroid carcinoma, and thyroid dysfunction is also reported. The aim of the present study was to find the prevalence of thyroid dysfunction and goiter in patients with acromegaly and determine its relationship to disease activity, disease duration, and the presence of secondary hypothyroidism. SUBJECTS AND METHODS: In a cross-sectional study of the period 2008-2012 were included 146 patients with acromegaly (56 men, 90 women) of mean age 50.3 ± 12.4 years. Acromegaly disease activity and thyroid function were evaluated in all patients. Thyroid ultrasonography was performed to calculate thyroid volume and detect the presence of nodular goiter. RESULTS: Ninety-one patients were determined to have an active disease, and 55, a controlled disease. The mean thyroid volume in patients without previous thyroid surgery was 37.6 ± 38.8 mL. According to disease activity, thyroid volume was significantly higher in patients with active disease (38.5 ± 45.4 mL vs. 27.2 ± 18.4 mL, p = 0.036). A weak positive correlation was found between thyroid volume and insulin-like growth factor 1 (IGF-1) in the whole group and in females (R = 0.218; p = 0.013, and R = 0.238; p = 0.037, respectively). There was no significant correlation of thyroid volume with disease duration and GH level in the whole group and in both sexes. The patients with secondary hypothyroidism had twofold smaller thyroid volume, relative to the rest of the group. The prevalence of thyroid dysfunction was 39%, with a female to male percentage ratio of 1.73. Goiter was diagnosed in 87% of patients, including diffuse goiter (17.1%) and nodular (69.9%), with no significant difference between patients with active and controlled disease or the presence of secondary hypothyroidism. CONCLUSIONS: Thyroid volume in patients with acromegaly depends on disease activity and the presence of secondary hypothyroidism as a complication. The increased prevalence of nodular goiter determines the need of regular ultrasound thyroid evaluation in the follow-up of patients with acromegaly. Arch Endocrinol Metab. 2020;64(3):269-75.