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

ABSTRACT 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. Conclusions: 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)

Causas anatómicas inusuales de malposición de catéteres venosos centrales / Unusual anatomical causes of malposition of central venous catheters

Resumen: La malposición de los catéteres venosos centrales se asocia a importantes riesgos, a menudo infraestimados. Aunque se han descrito algunos factores que pueden favorecer la malposición, generalmente su causa no llega a diagnosticarse y parece ser de origen multifactorial. Presentamos dos casos de malposición de catéteres venosos centrales motivadas por causas anatómicas inusuales, diagnosticadas en el perioperatorio. En el primer caso, se diagnostica una agenesia de vena cava superior en el transcurso de una sustitución mitral por esternotomía, que lógicamente se asocia con una malposición de la vía central insertada. La utilización de catéteres y dispositivos a través de venas yugulares y subclavias en pacientes con esta infrecuente patología implica importantes limitaciones y complicaciones potenciales graves. En el segundo caso, la existencia de un bocio no diagnosticado provoca la malposición bilateral y simultánea de dos catéteres venosos canalizados, en el contexto de una situación de emergencia, en ambas venas yugulares internas.

Abstract: Malposition of central venous catheters is associated with important and underestimated risks. Although some factors have been related with malposition, its cause is generally not diagnosed, and it seems to have multifactorial origin. We present two cases of central venous catheter malposition due to unusual anatomical causes, diagnosed in the perioperative period. In the first case, superior vena cava agenesis was diagnosed during mitral replacement by sternotomy, which was logically associated with malposition of the inserted central line. The use of catheters and devices through jugular and subclavian veins in patients with this infrequent pathology is associated with important limitations and serious potential complications. In the second case, an undiagnosed goiter causes bilateral and simultaneous malpositioning of two inserted central venous catheters, in the context of an emergency situation, in both internal jugular veins.

Cytological spectrum of diseases in goiter in Kadapa, a semiurban city in southern part of India – A 2-year retrospective study

Background: Thyroid gland produces thyroid hormone, thyroxine. Goiter is an indefinite term applied to the enlargement of thyroid gland. The normal thyroid gland in non-goitrous state weighs 25–35 g. Thyroid gland disorders are common endocrine disorders in the world. Aims and Objectives: This is a retrospective study done to know the age and gender distribution of goiter and various pathological conditions in goiter. This study showed that the incidence is common in 3rd–5th decade of life and nodular and colloid goiter are the common causes of goiter followed by follicular adenoma and papillary carcinoma. Materials and Methods: The data were collected from cytology registers of Pathology Department of FIMS Hospital, Image Diagnostics and Seetha Diagnostics, Kadapa, during the 2-year period from January 2021 to December 2022. The data collected as above were systematically analyzed and reviewed for age and sex distribution, clinical presentation, and cytological diagnosis. Results: Majority of the patients were female accounting for 324 cases (94.18%) and 20 patients (5.81%) were male. The maximum incidence is in young females between 31 and 40 years age group (24.70%) followed by 41–50 years age group (23.83%) and then in 21–30 years age group (22.38%). All together, the overall maximum incidence is seen in females between 21 and 50 years age group (70.91%). The most common pathological disease is nodular goiter followed by colloid nodule, both being iodine deficiency goiters. Conclusion: The study showed the thyroid disorders are more common in females. The non-neoplastic lesions constitute the predominant cause for goiter followed by benign neoplasms and then malignant neoplasms.

Características clínicas, epidemiológicas y quirúrgicas de pacientes con afecciones nodulares tiroideas / Clinical, Epidemiological and Surgical Characteristics of Patients with Thyroid Nodular Conditions

Introducción: En las últimas décadas la incidencia del cáncer tiroideo en el curso de la enfermedad nodular se ha incrementado debido a las novedosas técnicas de diagnóstico; sin embargo, la tasa de mortalidad se ha mantenido muy baja. Objetivo: Evaluar las características clínicas, epidemiológicas y quirúrgicas de pacientes con afecciones nodulares tiroideas. Métodos: Se realizó un estudio descriptivo observacional de cohorte prospectivo, longitudinal con los pacientes operados de afecciones tiroideas durante el período comprendido entre enero del 2008 y diciembre del 2018. El universo y la muestra quedaron constituidos por 467 pacientes que cumplieron con los criterios de inclusión. Resultados: Predominaron el sexo femenino (89,5 por ciento) y el grupo etario de 45-60 años (29,5 por ciento). Asociaron comorbilidades 338 pacientes y algún factor de riesgo de malignidad (6,2 por ciento). Un total de 174 pacientes manifestaron síntomas y 264 mostraron algún signo. Predominaron los reportes ecográficos (TI-RADS) y citológicos (Bethesda) tipo II (54,3 por ciento) y (55,5 por ciento), respectivamente. La hemitiroidectomía fue el procedimiento más realizado (59,9 por ciento) y la disfonía la complicación más encontrada (1,9 por ciento). Conclusiones: El diagnóstico oportuno del cáncer tiroideo en el curso de una enfermedad nodular contribuye a individualizar todas las decisiones terapéuticas atendiendo a las características de cada paciente y sus circunstancias(AU)

Introduction: In recent decades, the incidence rates of thyroid cancer in the course of nodular disease has increased due to novel diagnostic techniques; however, the mortality rate has remained very low. Objective: To evaluate the clinical, epidemiological and surgical characteristics of patients with nodular thyroid disease. Methods: A descriptive, observational, of prospective cohort, longitudinal and observational study was conducted with patients operated on for thyroid disorders during the period from January 2008 to December 2018. The study universe and sample consisted of 467 patients who met the inclusion criteria. Results: The female sex (89.5 percent) and the age group 45-60 years (29.5 percent) predominated. Comorbidities were present in 338 patients, as well as some risk factor for malignancy in 6.2 percent. A total of 174 patients manifested symptoms and 264 showed some sign. There was a predominance of echography (TI-RADS) and cytology (Bethesda) type II reports, accounting for 54.3 percent and 55.5 percent, respectively. Hemithyroidectomy was the most performed procedure (59.9 percent), while dysphonia was the most encountered complication (1.9 percent). Conclusions: Timely diagnosis of thyroid cancer in the course of nodular disease contributes to individualizing all therapeutic decisions considering the characteristics of each patient and their circumstances(AU)

Coexistence of Hyperparathyroidism and Multinodular Goiter with Hashimotos Thyroiditis and Hyperthyroidism � A Rare Case Report

Thyroid disease and hyperparathyroidism (HPT) are among the most common endocrine disorders. Thyroid hormones play an important role in bone and calcium metabolism. The rate of HPT is greater in patients with thyroid disease than in the general medical population. Simultaneous occurrence of hyperthyroidism and hyperparathyroidism in the same patient is a rare combination. The clinical manifestations of hyperthyroidism may overshadow the more subtle and varied symptoms and signs of primary hyperparathyroidism. It poses difficult diagnostic and therapeutic problems. Both diseases, however, may have a profound influence on calcium metabolism. The resulting disturbances in thyrotoxicosis may simulate hyperparathyroidism. Contrariwise, the diagnosis of an associated parathyroid adenoma may be missed, or unnecessarily delayed because hypercalcemia is known to occur in hyperthyroidism. The coexistence of thyroiditis and thyroid nodules with parathyroid disorders is also known. Graves� disease (GD) and primary hyperparathyroidism (PHPT) are two common endocrine disorders. However the co- occurrence of hyperthyroidism and primary hyperparathyroidism (PHPT) is rare. However, the link between the two disorders remains unclarified. Hypercalcemia in Graves' hyperthyroidism should warrant a thorough investigation for concomitant primary hyperparathyroidism. Concomitant thyroid nodular disease and hyperparathyroidism (PHPT) disease has been also documented. PHPT is also reported in patients with thyroid malignancy. We hereby report a rare case of a patient who presented with coexistence of Hyperparathyroidism and Multinodular Goiter with Hashimotos Thyroiditis and Hyperthyroidism.

Value of CT-based model in differential diagnosis of papillary thyroid carcinoma / 中华内分泌外科杂志

Objective:To evaluate the differential diagnosis of papillary thyroid carcinoma (PTC) based on CT signs.Methods:Retrospective analysis was performed on 156 patients with PTC confirmed by surgery and pathology in the Imaging Department of Jinhua Hospital Affiliated to Zhejiang University College of Medicine from Jan. 2017 to Jan. 2022 as PTC group, and 132 patients with nodular goiter (NG) as NG group. There were 112 females and 45 males in the PTC group. The age was (49.32±3.25) years. There were 104 females and 52 males in NG group. The age was (50.12±3.27) years. Preoperative plain and contrast-enhanced CT scans were performed to analyze the features of the images, and univariate analysis was performed on the morphologic features, high tension, plain "bite cake sign" , enhanced "bite cake sign" , microcalcification, blurred/reduced scope after enhancement, nodule density, and asymmetric diffuse enlargement of thyroid gland. Statistically significant factors were included in the multivariate Logistic regression analysis, and the differential model of PTC was established according to the selected risk factors. The value of the model in the differential diagnosis of PTC was evaluated by ROC curve.Results:The percentages of irregular shape, no high tension, plain scan "bite cake sign" , enhanced "bite cake sign" , microcalcification, enhanced blur/reduced scope, uniform nodule density, completely slightly low tissue density, no cystic degeneration, and asymmetric thyroid diffuse enlargement in PTC group were higher than those in NG group ( χ2=161.014, 3.387, 95.885, 151.331, 60) . 200, 18.104, 105.260, 16.855, 89.064, 16.913, P<0.05) , suggesting that the above CT signs had important diagnostic value in differentiating PTC and NG. Among the single CT signs, plain scan "bite cake sign" had the highest sensitivity, specificity and accuracy. The sensitivity of PTC diagnosis combined with other signs gradually decreased, while the specificity gradually increased. At the same time, plain scan "bite cake sign" and microcalcification signs had high specificity in PTC identification, and the specificity of PTC identification reached 100.00% when any 4 or more signs were present. Multivariate Logistic regression analysis. The results showed that irregular morphology ( OR=15.831, 95% CI: 7.444-33.670) , high tension ( OR=0.162, 95% CI: 0.108-0.242) , plain scan "bite cake sign" ( OR=5.601, 95% CI: 2.691-11.659) , microcalcification ( OR=4.031, 95% CI: 2.062-7.880) , edge blur/range reduction after enhancement ( OR=4.761, 95% CI: 3.126-7.260) , uniform density of nodules ( OR=4.778, 95% CI: 3.299-6.290) and increased asymmetric diffusion ( OR=3.758, 95% CI: 1.911-7.391) were important signs for distinguishing NG from PTC ( P<0.05) . The above factors were incorporated into the Logistic regression equation to construct the model, and then the ROC curve was drawn. The results showed that the area under the curve of the model established based on CT signs was 0.94 (0.925-0.983) , and the sensitivity and specificity were 90.37% and 91.45%, respectively. Conclusions:In CT signs, irregular shape, high tension, "biting cake sign" on plain scan, microcalcification, blurred edge/scope reduction signs after enhancement, and uniform nodule density are important signs for differentiating papillary thyroid carcinoma from nodular goiter. The constructed model has good predictive value for identifying papillary thyroid carcinoma.

Mechanism Study on Chinese Medicine in Treatment of Nodular Goiter / 中国结合医学杂志

Nodular goiter has become increasingly prevalent in recent years. Clinically, there has been a burgeoning interest in nodular goiter due to the risk of progression to thyroid cancer. This review aims to provide a comprehensive summary of the mechanisms underlying the therapeutic effect of Chinese medicine (CM) in nodular goiter. Articles were systematically retrieved from databases, including PubMed, Web of Science and China National Knowledge Infrastructure. New evidence showed that CM exhibited multi-pathway and multi-target characteristics in the treatment of nodular goiter, involving hypothalamus-pituitary-thyroid axis, oxidative stress, blood rheology, cell proliferation, apoptosis, and autophagy, especially inhibition of cell proliferation and promotion of cell apoptosis, involving multiple signal pathways and a variety of cytokines. This review provides a scientific basis for the therapeutic use of CM against nodular goiter. Nonetheless, future studies are warranted to identify more regulatory genes and pathways to provide new approaches for the treatment of nodular goiter.

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.

Precisión de la PAAF en el reporte histopatológico de cirugía de tiroides

Objetivo: evaluar la precisión de los distintos puntos de corte del score Bethesda de la BAAF, en comparación con el estudio histopatológico para el diagnóstico de patología tiroidea. Métodos: estudio cuantitativo, observacional, de tipo transversal, analítico para la evaluación de pruebas diagnósticas. Incluyó 293 pacientes con patología tiroidea sugestiva de cáncer, que acudieron a Servicio de Cirugía General del Hospital Obrero N° 2 de la Caja Nacional de Salud, durante el periodo de 2019-2022. Se realizó un muestreo no aleatorizado por conveniencia que incluía a todos los pacientes disponibles. Resultados: se afirma la correlación entre las dos variables estudiadas, es decir, entre el puntaje del score Bethesda y el reporte del estudio histopatológico, con un intervalo de confianza (IC) del 95%. Conclusiones: se demuestra que la BAAF tiene alta especificidad en el diagnóstico de cancer de tiroides con reporte Bethesda V y VI, por el contrario, reportes Bethesda menores II, III y IV, descartan el diagnóstico.

Objective: to evaluate the precision of the different cut-off points of the BAAF Bethesda score in comparison with the histopathological study for the diagnosis of thyroid pathology. Methods: quantitative, observational, cross-sectional, analytical study for the evaluation of diagnostic tests. It included 293 patients with thyroid disease suggestive of cancer, who attended the General Surgery Service of Hospital Obrero No. 2 of the National Health Fund, during the period 2019-2022. Non-randomized convenience sampling was performed that included all available patients. Results: the correlation between the two variables studied was confirmed, that is, between the Bethesda score and the histopathological study report, with a confidence interval (CI) of 95%. Conclusions: it is demonstrated that the BAAF has high specificity in the diagnosis of thyroid cancer with Bethesda reports V and VI, on the contrary, minor Bethesda reports II, III, and IV, rule out the diagnosis.

Efficacy of traditional Chinese medicine combined with 131I in the treatment of Graves hyperthyroidism / 中华核医学与分子影像杂志

Objective:To explore the value of traditional Chinese medicine combined with 131I in the treatment of Graves hyperthyroidism. Methods:From March 2020 to July 2021, 90 patients (39 males, 51 females, age (33.2±7.0) years) with Graves hyperthyroidism who were diagnosed and treated in Changshu No.2 People′s Hospital were retrospectively analyzed. Patients were randomly divided into 3 groups ( n=30 in each group), including group A who received treatment of antithyroid drugs (ATD), group B who received treatment of traditional Chinese medicine, and group C who received treatment of 131I combined with traditional Chinese medicine. Thyroid function indicators and inflammatory indicators before treatment and 1, 3, and 6 months after treatment were determined, including free triiodothyronine (FT 3), free thyroxine (FT 4), thyroid stimulating hormone (TSH) and TSH receptor antibody (TRAb), and C-reactive protein (CRP), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α). One-way analysis of variance and χ2 test were used to analyze data. Results:The levels of FT 3, FT 4, TSH, TRAb, CRP, IL-6 and TNF-α in group A, B and C before treatment and 1, 3, 6 months after treatment were significantly different ( F values: 193.27-906.11, all P<0.05). The total effective rate in group C (100.0%, 30/30) was significantly higher than that in group A (86.7%, 26/30) or group B (83.3%, 25/30; χ2 values: 8.24, 9.83, P values: 0.006, 0.037), while there was no significant difference between group A and group B ( χ2=3.02, P=0.124). The incidence of adverse reactions in group B (46.7%, 14/30) was significantly higher than that in group A (30.0%, 9/30; χ2=6.59, P=0.042). And the incidence of adverse reaction in group C (13.3%, 4/30) was significantly lower than that in group A or group B ( χ2 values: 12.05, 7.20, P values: 0.004, 0.038). Conclusion:The curative effect of 131I combined with traditional Chinese medicine is effective and reliable, suggesting that clinical researches should be carried out together and perfected.

Comparison of iodine nutritional status and disease monitoring results among children in water source high iodine areas of Henan Province in 2017 and 2019 / 中华地方病学杂志

Objective:To compare the coverage rate of non-iodized salts, children's iodine nutrition and the change trend of goiter rate between the original water source high iodine areas in Henan Province in 2017 and the newly designated water source high iodine areas in 2019.Methods:Using a cross-sectional survey method, household edible salt monitoring was conducted in all 20 counties (cities, districts) with high iodine content in Henan Province in 2017. Ten counties (cities, districts) were selected to monitor water iodine, urinary iodine and thyroid volume of children aged 8 to 10 years. A total of 4 430 salt samples and 1 012 urine samples were collected, and thyroid volume of 1 012 children were measured. In 2019, monitoring of household edible salt, water iodine, urinary iodine, and thyroid volume was carried out in all 55 newly designated counties (cities, districts) with high iodine village. A total of 9 835 salt samples and 9 830 urine samples were collected, and the thyroid volume of 8 896 children was measured. The monitoring results of two years were compared, and the relationship between children's urinary iodine and goiter rate was analyzed by univariate logistic regression.Results:In 2019, the water iodine content in newly designated high iodine areas decreased compared to the original high iodine areas in 2017 (119.8 to 191.0 μg/L), and the difference was statistically significant ( Z = - 2.48, P = 0.013). The rate of non-iodized salts in 2019 was only 35.5% (3 494/9 835), significantly lower than that in 2017 (96.2%, 4 263/4 430, χ 2 = 4 536.74, P < 0.001). The median urinary iodine of children in 2017 and 2019 were 338.2 and 317.8 μg/L, respectively, the difference between the two years was statistically significant ( Z = - 2.46, P = 0.014). In 2017 and 2019, the goiter rate of children aged 8 to 10 years was 1.5% (15/1 012) and 2.1% (187/8 896), respectively, and there was no significant difference between the two years (χ 2 = 1.76, P = 0.185). The results of univariate logistic regression analysis showed that, compared with the control group with urinary iodine < 100 μg/L, the risk of goiter rate (but the enlargement rate did not exceed 5%) increased with the increase of urinary iodine level (100 - 199, 200 - 299 and ≥300 μg/L groups), and the differences were statistically significant [odds ratio ( OR) = 8.64, 7.68, 10.69, P < 0.05]. Conclusion:After the implementation of the new demarcation standard for areas with excessive iodine in water sources, the supply of non-iodized salts in Henan Province is relatively lagging behind, and the iodine nutrition level of children is still high, but the goiter rate is relatively stable.

Analysis of iodine nutrition status of children and pregnant women in Henan Province in 2020 / 中华地方病学杂志

Objective:To investigate the iodine nutritional status of children aged 8-10 years old and pregnant women in Henan Province.Methods:From March to September 2020, a cross-sectional survey was conducted in 18 provincial-level cities and 9 directly administered counties (collectively referred to as provincial-level cities) and 155 counties (cities, districts) in Henan Province. One township was selected from each county (city, district) in five directions: east, west, south, north, and central. One primary school was selected from each township, and 40 non boarding children aged 8-10 years old (half male and half female) were selected from each primary school; 20 pregnant women were selected from each township. Home edible salt samples and once urine samples from children and pregnant women were collected, to detect salt iodine and urinary iodine levels. Thyroid volume of children in 1/3 of the monitored counties (cities, districts) under the jurisdiction of each provincial-level city was examined.Results:A total of 31 645 home edible salt samples were collected from children aged 8-10 years old, with a median salt iodine of 25.8 mg/kg, the iodine salt coverage rate was 97.8% (30 941/31 645) and qualified iodine salt consumption rate was 93.4% (29 545/31 645). A total of 15 234 home edible salt samples were collected from pregnant women, with a median salt iodine of 25.7 mg/kg, the iodized salt coverage rate was 98.1% (14 937/15 234), and the qualified iodized salt consumption rate was 92.2% (14 040/15 234). A total of 31 642 urine samples from children aged 8-10 years old were tested, with a median urine iodine of 235.0 μg/L; 15 234 urine samples from pregnant women were tested, with a median urinary iodine of 196.5 μg/L. The thyroid volume of 13 792 children was examined, and the rate of goiter was 1.2% (165/13 792).Conclusions:Iodine nutrition of 8-10 years old children in Henan Province is at an over appropriate iodine level, and the prevalence of goiter is less than 5%. Pregnant women's iodine nutrition is at an appropriate iodine level.

Graves' disease, myxedema, and papillary thyroid carcinoma / Doença de Graves, mixedema e carcinoma papilífero de tireoide

Graves' disease (GD) is the leading cause of hyperthyroidism and diffuse toxic goiter in iodine-sufficient geographi-cal areas. GD is associated with classical manifestations such as ophthalmopathy and thyroid dermopathy, in addi-tion to diffuse goiter, which may be the site of carcinomas, as a complication. Case report: A 52-year-old woman presented with goiter and symptoms compatible with hyperthyroidism, such as heat intolerance, weight loss, fati-gue, increased sweat, tachycardia, fine tremors, increased intestinal transit, anxiety, emotional lability, insomnia, exophthalmos, and pretibial myxedema. A complementary investigation confirmed the diagnosis of hyperthyroidism (high free T4 and total T3 levels and low thyroid-stimulating hormone - TSH levels). Ultrasound images showed dif-fuse enlargement of the thyroid lobes by approximately 10 times and the presence of three thyroid nodules, one of which was larger than 2 cm with heterogeneous echogenicity and vascularization throughout the nodule; ultrasoun-d-guided fine needle aspiration revealed cytology compatible with Bethesda IV; scintigraphy revealed a low uptake area (cold nodule) amid a diffuse high-uptake goiter. A thyroidectomy was performed, and the anatomical specimen diagnosis revealed papillary thyroid carcinoma in the right lobe, with adjacent parenchyma compatible with GD. Histopathological examination of the skin showed the presence of myxedema compatible with Graves' dermopathy. The patient evolved with the normalization of TSH levels and a reduction of cutaneous manifestations. Conclusion:GD abnormalities may not be restricted to the classic clinical manifestations, and a careful investigation may reveal the coexistence of carcinomas. (AU)

A doença de Graves (DG) é a principal causa de hipertireoidismo e bócio difuso tóxico em áreas geográficas com iodo suficiente. DG está associada a manifestações clínicas clássicas como oftalmopatia e dermopatia da tireoide, além do bócio difuso, que pode ser sítio de carcinomas, como uma complicação. Relato de caso: Mulher de 52 anos apresentou bócio e sintomas compatíveis com hipertireoidismo como intolerância ao calor, emagrecimento, fadiga, sudorese aumentada, taquicardia, tremores finos, trânsito intestinal aumentado, ansiedade, labilidade emocional, insônia, exoftalmia e mixedema pré-tibial. A investigação complementar confirmou o diagnóstico de hipertireoidis-mo (níveis elevados de T4 livre e T3 total; níveis baixos de hormônio estimulante da tireoide - TSH). As imagens ultrassonográficas mostraram aumento difuso dos lobos tireoidianos em aproximadamente 10 vezes e a presença de três nódulos tireoidianos, um dos quais, maior que 2 cm, com ecogenicidade e vascularização heterogêneas em todo o nódulo, cuja punção aspirativa por agulha fina guiada por ultrassom revelou citologia compatível com Bethesda IV; e a cintilografia evidenciou uma área de baixa captação (nódulo frio) em meio a um bócio difuso de alta captação. Foi realizada tireoidectomia e o diagnóstico da peça anatômica revelou carcinoma papilífero de tir-eoide em lobo direito, com parênquima adjacente compatível com DG. O exame histopatológico da pele mostrou a presença de mixedema compatível com dermopatia de Graves. A paciente evoluiu com normalização dos níveis de TSH e redução das manifestações cutâneas. Conclusão: As anormalidades da DG podem não estar restritas às manifestações clínicas clássicas, e uma investigação criteriosa pode revelar a coexistência de carcinomas, (AU)

Consideraciones actuales sobre el diagnóstico y tratamiento del cáncer tiroideo

Introducción: Desde los inicios de este siglo se ha producido un notable incremento mundial de la tasa de incidencia del cáncer de tiroides, el cual generalmente tiene un curso larvado y asintomático. Objetivo: Profundizar en el conocimiento de los aspectos novedosos del diagnóstico oportuno y tratamiento personalizado del cáncer tiroideo. Desarrollo: El cáncer tiroideo es la enfermedad maligna más frecuente del sistema endocrino. En las últimas décadas, su incidencia se ha incrementado aceleradamente, aunque la mortalidad se ha mantenido baja. El descubrimiento y desarrollo de nuevas técnicas de imágenes, inmunológicas y moleculares, han permitido estudiar en profundidad la neoplasia de la tiroides. Esto ha favorecido avanzar en los aspectos que más han modificado la nueva actitud respecto al diagnóstico oportuno y su tratamiento. Conclusiones: En años recientes, los avances de las investigaciones básicas, clínicas y traslacionales (aplicación real de los conocimientos básicos en la práctica clínica), han transformado antiguos conceptos relacionados con el cáncer tiroideo y han dotado de nuevas herramientas para el diagnóstico oportuno y tratamiento personalizado.

Introduction: Since the beginning of this century there has been a notable increase worldwide in the incidence rate of thyroid cancer, which generally has a latent and asymptomatic course. Objectives: To deepen the knowledge of the novel aspects of timely diagnosis and treatment of thyroid cancer. Development: Thyroid cancer is the most frequent malignant disease of the endocrine system. In recent decades, its incidence has increased rapidly, although mortality has remained low. The discovery and development of new imaging, immunological and molecular techniques have made it possible to study thyroid neoplasm in depth. This has favored advancing in the aspects that have most modified the new attitude regarding timely diagnosis and its treatment. Conclusions: In recent years, advances in basic, clinical and translational research have transformed old concepts related to thyroid cancer and have equipped with new tools for timely diagnosis and personalized treatment.

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.

Wnt3a but not CDX-2 expression is associated with differentiated thyroid cancer

SUMMARY OBJECTIVE: Thyroid neoplasm incidence has increased worldwide, mostly due to the advancements in medical imaging and screening rates. The aberrant Wnt/β-catenin pathway has been identified as a key mechanism, and it has also been related to the metastatic activity of differentiated thyroid cancer. We aimed to verify the difference in the expression of Wnt3a, a canonical activator of the β-catenin signaling, and CDX-2, a transcription factor upregulated by Wnt/β-catenin pathway, in multinodular goiter and differentiated thyroid cancer and to determine their prognostic value. METHODS: We included 194 thyroid tissue surgical specimen and their clinicopathological data: study group (differentiated thyroid cancer, n=154) and control group (multinodular goiter, n=40). Immunohistochemistry (IHC) was performed on formalin-fixed, paraffin-embedded tissue by the primary antibodies Wnt3a and CDX-2. RESULTS: High Wnt3a expression was significantly associated with differentiated thyroid cancer (p=0.031). CDX-2 was negative in all differentiated thyroid cancer cases (100%) and also in multinodular goiter. Wnt3a expression was significantly associated with tumors ≤20 mm (p=0.044) and with the absence of capsule invasion (p=0.031). The multivariate analyses suggested that older age (≥55), independent of capsular invasion and tumor size, was an independent prognostic factor for Wnt3a expression (p=0.058). CONCLUSIONS: Wnt3a expression but not CDX-2 is correlated with differentiated thyroid cancer samples in comparison to multinodular goiter. Although its prognostic value was limited to tumor size and capsule invasion, a combined model in a panel of immune markers can add accuracy in the classification of challenging thyroid follicular-derived lesions.

Determination of Serum Thyroglobulin Concentration in Simple Diffuse Goiter Patients with Known Iodine Status

Background: Thyroglobulin (TG) seems to be a valuable indicator of thyroid function and iodine nutrition status. Aim of the study: The aim of the study was to observe the relationship between serum thyroglobulin and urinary iodine (UI) in simple diffuse goiter patients.Methods:This cross-sectional observational study was conducted at the Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. The study duration was 2 years, starting from May 2014 to March 2016. Total 87 patients with simple diffuse goiter attending the OPD Department of Endocrinology of BSMMU had been recruited as study population. A purposive sampling technique was followed for sample selection.Results:Serum thyroglobulin (ng/mL, mean盨D and median) was lowest in the age group 12-16 years (6.0�5, 5.16 ng/mL) followed by age>31 years (8.8�1, 6.16 ng/mL), whereas other age groups showed level around 13.0 and 10.0 ng/mL (p= 0.520). Mean (盨D) Urinary Iodine was not statistically different among age groups (347.4� 226.5 vs. 337.08�8.9 vs. 300.5� 95.37 vs. 337.7� 225.42 vs. 278.3� 105.7, 礸/L; F 0.451, p=0.771) while median values were 325.26 vs. 355.68 vs. 325.80 vs. 338.86 and 300.90 礸/L respectively. Neither thyroglobulin (5.76�72 vs. 11.60� 13.50; 3.47 vs. 8.9 ng/mL, m盨D and median; p=0.294) nor Urinary Iodine (373.5� 44.5 vs. 317.2� 180.32; 378.1 vs. 308.9 礸/L, m盨D and median; p=0.450) were statistically different between the gender groups. Similarly, thyroglobulin and Urinary Iodine were also statistically similar for grade-1 and grade-2 goiter (thyroglobulin: 6.79�33 vs. 11.67�.69 and 6.74 vs. 8.02 ng/mL, m盨D and median, p=0.319; Urinary Iodine: 361.33� 51.60 vs. 317.09� 182.44, 362.69 vs. 305.35 礸/L, m盨D and median, p=0.498).Conclusion:Thyroglobulin seems to have an inverse association in iodine deficiency state and positive association in over sufficient state with UI. There was no statistically significant difference of TG concentration between males and females nor between Grade-1 and Grade-2 goiter.

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.

Echocardiographic Evaluation of Patients with Goiter in a Nigerian Tertiary Hospital

Background: Goiter is endemic in iodine deficient areas of the world including Nigeria. Cardiovascular disorder is a cause of morbidity in patients with thyroid diseases. These cardiovascular disorders are more likely to be found in patients with hypothyroid or hyperthyroid goiter. Large euthyroid goiter can potentially compromise respiration with potentials for secondary cardiac changes. Despite these, echocardiography is not a routine assessment of these patients. This study set out to determine the baseline cardiac function in a cohort of patients with endemic goiter using echocardiography. Materials and Methods: A comparative study of One hundred goiter patients presenting consecutively at the out-patient clinic of a tertiary hospital and 50 age and gender matched healthy non-goitrous control subjects. They all had thyroid function tests, cardiovascular evaluation and echocardiography done. Results: The mean ages of the goiter and the control groups were 46.92 + 13.85 and 46.58 + 11.62 years respectively (P=0.8510). The goiter population comprised 12 males and 88 females while the control group had 6 males and 44 females. 47% of the goiter subjects were hyperthyroid, while 44% and 9% were euthyroid and hypothyroid respectively. All the control subjects were euthyroid. Systolic and diastolic dysfunction were seen in 18% and 24% of the goiter group respectively, compared to 2% and 5% of the control group (P<0.0001). Hyperthyroid and hypothyroid subgroups had higher rates of both systolic and diastolic dysfunction. Systolic dysfunction was seen in 6.4%, 4.5% and 100% of the hyperthyroid, euthyroid and hypothyroid subgroups respectively while diastolic dysfunction was seen in 23.4%, 9.2 and 100% of the subgroups. Prevalence of systolic and diastolic dysfunction in the euthyroid and control subjects were 4.5% vs 2% (P=0.1228) and 9.2% vs 5% (P=0.2018). Conclusion: This study concluded that cardiac dysfunction is common in both hypothyroid and hyperthyroid goiter population while the prevalence of cardiac dysfunction in the euthyroid population is not influenced by the presence of goiter. This may suggest that routine echocardiography is unnecessary in patient with euthyroid goiter