Evaluación de la agudeza diagnóstica de la Ecografía Translaríngea Transcutánea (ETLTC) en la valoración de la movilidad de las cuerdas vocales en cirugía de tiroides y paratiroides / Evaluation of the diagnostic acuity of the Transcutaneous Translaryngeal Ultrasound (TCTLUS) in the assessment of the vocal cords mobility in thyroid and parathyroid surgery

Introducción. La evaluación de la movilidad de las cuerdas vocales en cirugía de tiroides y paratiroides hace parte de la adecuada valoración integral. Aunque la laringoscopia directa es prueba de referencia, su uso real no es rutinario por lo que se propone la ecografía translaríngea como alternativa de evaluación. Métodos. Estudio prospectivo de evaluación de una prueba diagnóstica de la movilidad de las cuerdas vocales pre y posoperatoria, comparando la ecografía translaríngea con la video laringoscopia, en pacientes con cirugía de tiroides y paratiroides, de febrero 1° a noviembre 30 de 2022. Se describieron las variables usando frecuencias absolutas y relativas. En el análisis univariado se calcularon Chi cuadrado y T de Student y en el bivariado, regresión logística binaria. La agudeza diagnóstica se determinó con sensibilidad, especificidad y valores predictivos; se consideró la significancia estadística con p < 0,05. Resultados. Se incluyeron 267 pacientes, 219 mujeres y 48 hombres; 196 pacientes (73,4%) tenían malignidad. Se encontró en el preoperatorio, sensibilidad 100 %, especificidad 99,6 %, VPP 83,3 %, VPN 100 %, odds de probabilidad positiva 83 % y Odds de probabilidad negativa 0,004 %. En el posoperatorio, sensibilidad 82,8 %, especificidad 99,2 %, VPP 92,3 % VPN 97,9 %, odds de probabilidad positiva 92 % y odds de probabilidad negativa 0,2 %. Conclusiones. La ecografía translaríngea en nuestro medio tiene alta agudeza diagnóstica. Podría ser usada en el abordaje inicial de la evaluación de la movilidad de las cuerdas vocales y reemplazar la laringoscopia directa, dejando ésta para cuando la visualización ecográfica no sea adecuada, o en casos de afectación o sospecha de invasión, para su confirmación.

Introduction. The evaluation of the mobility of the vocal cords in thyroid and parathyroid surgery is part of the adequate comprehensive assessment. Altough, direct laryngoscopy is the gold standard, its real use is not routine, so translaryngeal ultrasound approach is proposed as an alternative. Methods. A prospective diagnostic test study was carried out to evaluate the translaryngeal ultrasound compared with video laryngoscopy in visualizing vocal mobility in patients with thyroid and parathyroid surgery from February 1 to November 30, 2022. Patients were described using absolute and relative frequencies. Univariate statistical analysis with Chi-square and Student's t tests. T. Bivariate analysis using binary logistic regression. Diagnostic acuity was calculated with sensitivity, specificity, PPV, NPV. Statistical significance with p< 0.05, 95% confidence interval. Results. 267 patients undergoing thyroid or parathyroid surgery were included, 219 women and 48 men. Malignant: thyroid neoplasm 196 patients (73.4%). The findings were for the preoperative period, 100% sensitivity, 99.6% specificity, PPV 83.33%, NPV 100%, 83% positive probability odds, and 0.004% negative probability odds. For the postoperative period, 82.8% sensitivity, 99.2% specificity, 92.3% PPV, 97.9% NPV, 92% positive probability odds, and 0.2% negative probability odds were found.Conclusions. Translaryngeal ultrasound in our series has high diagnostic acuity. It could be used as the initial approach to evaluate vocal mobility and might replace direct laryngoscopy, leaving it when its visualization is not adequate or in cases of involvement or suspected invasion for confirmation.

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.

Bilateral choroidal metastasis of follicular thyroid carcinoma 7 years after total thyroidectomy: a case report

ABSTRACT Follicular thyroid cancers account for 15%-20% of all thyroid tumors. Choroidal metastases secondary to follicular thyroid cancer rarely occur. Herein, we report the case of an 85-year-old woman who presented choroidal metastasis from a follicular thyroid carcinoma in the right eye 7 years after total thyroidectomy and underwent enucleation. To confirm the diagnosis and primary tumor site, histopathological, and immunohistochemical examinations were performed. One year later, she presented metastasis in the contralateral eye. Few similar cases have been described in the literature.

Benign cervical schwannoma with tracheal invasion

ABSTRACT Schwannomas commonly develop in the cervical region, 25% - 45% of cases are diagnosed in this anatomical region. Tracheal neurogenic tumors are exceedingly rare and can be misdiagnosed as invasive thyroid carcinomas or other infiltrating malignancies when present at the level of the thyroid gland. Here, we present a case of synchronous benign cervical schwannoma with tracheal invasion and papillary thyroid carcinoma in a patient who was initially hospitalized for COVID-19. The patient presented with dyspnea that was later found to be caused by tracheal extension of a cervical tumor. Surgical excision was performed, and the surgical team proceeded with segmental tracheal resection, removal of the cervical mass, and total thyroidectomy. The specimen was sent for pathological analysis, which revealed synchronous findings of a benign cervical schwannoma with tracheal invasion and papillary thyroid carcinoma. The literature on this subject, together with the present case report, suggests that neurogenic tumors should be included in the differential diagnosis of obstructing tracheal cervical masses. Surgical excision is the first-line of treatment for benign cervical schwannomas.

Diagnostic value of a computer-assisted diagnosis system for the ultrasound features in thyroid nodules

ABSTRACT Objective: To explore the diagnostic value of the TUIAS (SW_TH01/II) computer-aided diagnosis (CAD) software system for the ultrasound Thyroid Imaging Reporting and Data System (TI-RADS) features in thyroid nodules. Materials and methods: This retrospective study enrolled patients with thyroid nodules in Shanghai East Hospital between January 2017 and October 2021. The novel CAD software (SW_TH01/II) and three sonographers performed a qualitative analysis of the ultrasound TI-RADS features in aspect ratio, margin irregularity, margin smoothness, calcification, and echogenicity of the thyroid nodules. Results: A total of 225 patients were enrolled. The accuracy, sensitivity, and specificity of the CAD software in "aspect ratio" were 95.6%, 96.2%, and 95.4%, in "margin irregularity" were 90.7%, 90.5%, and 90.9%, in "margin smoothness" were 85.8%, 88.5%, and 83.0%, in "calcification" were 83.6%, 81.7%, and 82.0%, in "homogeneity" were 88.9%, 90.6%, and 82.2%, in "major echo" were 85.3%, 88.0%, and 85.4%, and in "contains very hypoechoic echo" were 92.0%, 90.0%, and 92.4%. The analysis time of the CAD software was significantly shorter than for the sonographers (2.7 ± 1.6 vs. 29.7 ± 12.7 s, P < 0.001). Conclusion: The CAD system achieved high accuracy in describing thyroid nodule features. It might assist in clinical thyroid nodule analysis.

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)

Doble tormenta tiroidea y arrítmica en una gestante con múltiples taquicardias refractarias mediadas por un haz de kent intermitente ablacionado exitosamente

La tormenta tiroidea es un estado crítico y poco frecuente que condiciona la disfunción de múltiples órganos por el efecto del exceso de las hormonas tiroideas, esta disfunción endócrina tiene una elevada mortalidad y genera manifestaciones típicas como la taquicardia, fiebre, alteraciones gastrointestinales, cardiovasculares y del sistema nervioso central. El embarazo se ha asociado con un incremento en la incidencia de arritmias. Necesitan un tratamiento inmediato con drogas antiarrítmicas, cardioversión eléctrica o cesárea de urgencia. El WPW es una anormalidad cardiaca congénita que consiste en la presencia de un haz anómalo (Haz de Kent) que evita el sistema normal de conducción uniendo directamente aurículas y ventrículos. Veremos el caso de una gestante de 32 semanas que presenta un cuadro de tormenta tiroidea y múltiples episodios de taquicardia paroxística supraventricular (TPS), de tórpida y sombría evolución clínica mediada por un haz anómalo de Kent intermitente. Es evidente que la tormenta tiroidea en el contexto de la gestación produjo cambios en las propiedades electrofisiológicas del haz anómalo de Kent intermitente lo cual propició el desarrollo de múltiples taquicardias paroxísticas supraventriculares refractarias a la cardioversión eléctrica y farmacológica. Tampoco mejoró con la tiroidectomía total, solamente cedió por completo con la ablación por catéter de radiofrecuencia del haz anómalo de Kent.

Thyroid storm is a critical and infrequent state that conditions the dysfunction of multiple organs due to the effect of excess thyroid hormones. This endocrine dysfunction has a high mortality and generates typical manifestations such as tachycardia, fever, gastrointestinal, cardiovascular and heart disorders, and the central nervous system. Pregnancy has been associated with an increased incidence of arrhythmias. They need immediate treatment with antiarrhythmic drugs, electrical cardioversion, or emergency caesarean section. WPW is a congenital cardiac abnormality that consists of the presence of an abnormal bundle (Kent bundle) that prevents the normal conduction system, directly joining the atria and ventricles. We will see the case of a 32-week pregnant woman who presented symptoms of thyroid storm and multiple episodes of paroxysmal supraventricular tachycardia (PST), with a torpid clinical course mediated by an abnormal intermittent Kent bundle. It is evident that the thyroid storm in the context of pregnancy produced changes in the electrophysiological properties of the intermittent Kent bundle, which led to the development of multiple PST refractory to electrical and pharmacological cardioversion. Moreover, it also did not improve with total thyroidectomy, only resolved completely with radiofrequency catheter ablation of the Kent bundle.

Manejo anestésico para cirugía tiroidea. Una revisión no sistemática / Anesthetic management for thyroid surgery. A non-systematic review

Resumen: Las hormonas tiroideas forman parte fundamental del mantenimiento de la homeostasia, se encuentra particularmente relacionado con la función cardiovascular. Los estados distiroideos clínicos o subclínicos pueden comprometer este sistema en forma significativa durante los procedimientos quirúrgicos. Existen múltiples fármacos que pueden modificar la patología tiroidea en mayor o menor medida, disminuyendo el riesgo de complicaciones en la eventualidad de una cirugía. La utilización de anestesia general, ya sea balanceada o total endovenosa, se ha convertido en el estándar de oro, por la menor tasa de complicaciones asociadas. Durante el período perioperatorio se debe mantener un monitoreo estricto de la función cardiovascular para detectar alteraciones en forma temprana e iniciar las correcciones necesarias.

Abstract: Thyroid hormones are a fundamental part of the maintenance of homeostasis, it is particularly related to cardiovascular function. Clinical or subclinical dysthyroid states can significantly compromise this system during surgical procedures. There are multiple drugs that can modify the thyroid pathology to a greater or lesser extent, reducing the risk of complications in the event of surgery. The use of general anesthesia, whether balanced or total intravenous, has become the Gold standard, due to the lower rate of associated complications. During the perioperative period, strict monitoring of cardiovascular function must be maintained to detect alterations early and initiate the necessary corrections.

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).

Comprehensive analysis of clinicopathologic and sonographic features in thyroid cancer with skip lymph node metastasis: establish and assessment of a prediction nomogram

Abstract Lateral Lymph Node Metastasis (LLNM) is common in Papillary Thyroid Carcinoma (PTC) and is associated with a poor prognosis. LLNM without central lymph node metastasis as skip metastasis is not common. We aimed to investigate clinicopathologic and sonographic risk factors for skip metastasis in PTC patients, and to establish a nomogram for predicting the possibility of skip metastasis in order to determine the therapeutic strategy. We retrospectively reviewed the data of 1037 PTC patients who underwent surgery from 2016 to 2020 at a single institution. Univariate and multivariate analyses were used to identify the clinicopathologic and preoperative sonographic risk factors of skip metastasis. A nomogram including the risk factors for predicting skip metastasis was further developed and validated. The incidence of skip metastasis was 10.7%. The univariate and multivariate analyses suggested that gender (p = 0.001), tumor location (p = 0.000), extrathyroidal extension (p = 0.000), and calcification (p = 0.000) were independent risk factors. For papillary thyroid microcarcinoma, tumor location (p = 0.000) and calcification (p = 0.001) were independent risk factors. A nomogram according to the clinicopathologic and sonographic predictors was developed. The receiver operating characteristic curve indicated that AUC was 0.824 and had an excellent consistency. The calibration plot analysis showed a good performance and clinical utility of the model. Decision curve analysis revealed it was clinically useful. A nomogram for predicting the probability of skip metastasis was developed, which exhibited a favorable predictive value and consistency. For the female PTC patient, tumor located at the upper pole is more likely to have skip metastasis. Surgeons and sonographers should pay close attention to the patients who have the risk factors. Evidence level: This article's evidence level is 3. Level 3 evidence is derived from nonrandomized, controlled clinical trials. In this study, patients who receive an intervention are compared to a control group. Authors may detect a statistically significant and clinically relevant outcome.

Técnicas de imagen en la orbitopatía asociada al tiroides

La orbitopatía asociada al tiroides es la primera causa de afección inflamatoria orbitaria y de exoftalmo en adultos. Su progresión puede generar complicaciones, las cuales, ante un manejo inoportuno u omisión diagnóstica, pueden conllevar a disfunción visual irreversible. De aquí la importancia de garantizar un diagnóstico y tratamiento adecuados, para lo cual es fundamental un correcto manejo imagenológico. Con el propósito de actualizar y sistematizar el conocimiento sobre el diagnóstico por imágenes de la orbitopatía asociada al tiroides, se realizó una revisión de las publicaciones relacionadas con el tema de las últimas dos décadas. La búsqueda y la localización de la información se apoyaron en la elección de palabras clave/descriptores que configuraron su perfil. Además, se analizaron las ecografías, tomografías computarizadas y resonancias magnéticas de los pacientes diagnosticados con esta enfermedad en el Instituto Cubano de Oftalmología Ramón Pando Ferrer, durante los últimos 10 años. Todo lo investigado confirma que las técnicas de imagen son claves para establecer el diagnóstico de la oftalmopatía asociada al tiroides, pero jamás sustituirán a la historia clínica detallada y el examen físico minucioso. El médico se equivoca gravemente cuando pretende obviar la importancia del juicio clínico. La omisión de este principio, en el mejor de los casos, solo conducirá a diagnósticos casuales.

Thyroid-associated orbitopathy is the leading cause of orbital inflammatory disease and exophthalmos in adults. Its progression can generate complications, which, in case of inopportune management or diagnostic omission, can lead to irreversible visual dysfunction. Hence the importance of guaranteeing an adequate diagnosis and treatment, for which a correct imaging management is essential. With the purpose of updating and systematizing the knowledge on the imaging diagnosis of thyroid associated orbitopathy, a review of the publications related to the subject of the last two decades was carried out. The search and localization of the information was supported by the choice of keywords/descriptors that configured its profile. In addition, ultrasound scans, CT scans and MRI scans of patients diagnosed with this disease at the Cuban Institute of Ophthalmology Ramón Pando Ferrer, during the last 10 years, were analyzed. All that has been investigated confirms that imaging techniques are key to establish the diagnosis of thyroid-associated ophthalmopathy, but they will never replace a detailed clinical history and a thorough physical examination. The physician is seriously mistaken when he pretends to ignore the importance of clinical judgment. The omission of this principle will, at best, only lead to casual diagnoses.

Adaptation and validation of the Spanish version of the thyroid-cancer-specific Thyca-QoL scale: A cross-sectional study / Adaptación y validación de la versión en español de la escala thyroid-cancer-specific Thyca-QoL: Estudio de corte transversal

Introduction. Thyca-QoL is a specific instrument to assess QoL in thyroid cancer patients, but it is not validated in Spanish language. The aim was to assess the psychometric properties of the Thyca-QoL. Methods. This is a prospective cross-sectional study. The Thyca-QoL was translated and adapted to Spanish language. A psychometric validation using an exploratory principal axis factor analysis and confirmatory analysis, concurrent validation compared with EORTC QLQ-C30 and a test-retest reliability assessment was done. Results. A total of 296 patients were included. Exploratory factor analysis showed a seven-factor solution with good diagnostic tests results. Cronbach ́s alpha for the global scale was 0.86. The comparison between the Thyca-QoL and the EORTC QLQ-C30 demonstrated a high correlation (rho= 0.75) and coefficient for test-retest was 0.87. Discussion. The validation process followed all the methodological steps necessary to guarantee the performance of the instrument. The measurements of the internal validity, reliability, and reproducibility reached similar results as the original validation. The factor analysis showed a solution with seven factors that resembles the original results. Reproducibility was high for voice, sympathetic, sex, and chilliness domains and moderate for the others; the instrument had the ability to discriminate between clinical conditions. Conclusion. The spanish version of the thyroid-cancer-specific Thyca-QoL is a reliable and objective instrument to be used in clinical practice and for research objectives in Spanish speaking patients

Introducción. Thyca-QoL es un instrumento específico para evaluar la calidad de vida en pacientes con cáncer de tiroides, pero no está validado en idioma español. El objetivo de este estudio fue evaluar las propiedades psicométricas de Thyca-QoL. Métodos. Se hizo un estudio prospectivo transversal. El Thyca-QoL fue traducido y adaptado al idioma español. Se realizó una validación psicométrica mediante un análisis factorial exploratorio del eje principal y un análisis confirmatorio, una validación concurrente en comparación con EORTC QLQ-C30 y una evaluación de la fiabilidad test-retest. Resultados. Se incluyeron 296 pacientes. El análisis factorial exploratorio mostró una solución de siete factores con buenos resultados en las pruebas de diagnóstico. El alfa de Cronbach para la escala global fue de 0,86. La comparación entre Thyca-QoL y EORTC QLQ-C30 demostró una alta correlación (rho = 0,75) y el coeficiente para test-retest fue 0,87. Discusión. El proceso de validación siguió todos los pasos metodológicos necesarios para garantizar el desempeño del instrumento. Las medidas de validez interna, confiabilidad y reproducibilidad alcanzaron resultados similares a los de la validación original. El análisis factorial mostró una solución con siete factores que se asemeja a los resultados originales. La reproducibilidad fue alta para los dominios de voz, simpático, sexo y escalofríos y moderada para los demás; el instrumento tuvo la capacidad de discriminar entre condiciones clínicas.Conclusión. La versión en español de la escala thyroid-cancer-specific Thyca-QoL es un instrumento confiable y objetivo para ser utilizado en la práctica clínica y para objetivos de investigación en pacientes hispanohablantes

Análisis de mutaciones BRAF y NRAS de tumores tiroideos en pacientes de Argentina / Analysis of BRAF and NRAS mutations in thyroid tumors in patients from Argentina

Resumen Introducción : Se ha descrito que alteraciones molecu lares de las células foliculares tiroideas en el gen BRAF o en NRAS están asociadas con el proceso de carcinogé nesis. Nuestro objetivo fue conocer la frecuencia muta cional de BRAF y NRAS a partir de muestras de punción aspirativa con aguja fina (PAAF) en nuestra población. Métodos : Se analizó por qPCR el estado mutacional de BRAF (codón 600) y NRAS (codón 61) de 193 mues tras obtenidas por PAAF de nódulos sospechosos y se comparó con los datos de la anatomía patológica de 115 pacientes. Resultados : La mutación BRAF se identificó en 40 muestras (74.1%) de las punciones categorizadas como Bethesda VI (n = 54). En las muestras que se correspon dieron con carcinoma papilar de tiroides (CPT) variante clásica por histología (n = 47), el 70% presentó la muta ción, mientras que en los otros subtipos la prevalencia fue más baja (p = 0.013). En muestras de lesión folicular (n = 36), el 50% de los carcinomas foliculares resultaron positivos para NRAS pero solo el 6.7% de los adenomas presentaron esta variación. La presencia de mutación BRAF y CPT se asociaron con metástasis en los gan glios linfáticos (p = 0.014) y mayor riesgo relativo de recurrencia según el Consenso Argentino Intersocietario (RR = 6.77, p = 0.022). No hubo diferencias significativas entre la mutación de BRAF y otras características de agresividad en CPT. Conclusión : La mutación de BRAF y NRAS se observa en un número significativo de CPT y carcinoma folicular, respectivamente, en nuestra población. La mutación BRAF se correlaciona significativamente con metástasis en los ganglios linfáticos.

Abstract Introduction : Molecular alterations in follicular cells in the BRAF or NRAS genes have been reported to be associated with the process of carcinogenesis. Our aim was to determine the mutational frequency of BRAF and NRAS in fine-needle aspiration (FNA) specimens in our population. Methods : The mutational status of BRAF (codon 600) and NRAS (codon 61) was analysed by qPCR in 193 FNA specimens from suspicious nodules and compared with pathological data of 115 patients. Results : BRAF mutation was identified in 40 samples (74.1%) of FNAs classified as Bethesda VI (n = 54). In samples histologically diagnosed as classic papillary thyroid carcinoma (cPTC, n = 47), mutation was observed in 70% of cases, while in other subtypes the prevalence was lower (p = 0.013). In FNA specimens of follicular lesions (n = 36), positivity for NRAS was found in 50% of the follicular carcinomas (FTCs), but only in 6.7% of adenomas. Finally, there was a significant correlation between BRAF and PTC with lymph-node metastasis (p = 0.014) and increased relative risk of recurrence based on the Argentine Intersociety Consensus (RR = 6.77, p = 0.022). No significant differences were found between BRAF mutation and other features of aggressiveness in PTC. Conclusion : BRAF and NRAS mutations are observed in a significant number of PTCs and FTCs, in our popu lation. There is a significant correlation between BRAF mutation and lymph-node metastasis.

Administración subcutánea de levotiroxina en hipotiroidismo refractario / Subcutaneous administration of levothyroxine in refrac tory hypothyroidism

Resumen El hipotiroidismo generalmente se puede tratar de manera efectiva con levotiroxina (LT-4) oral. Sin em bargo, el hipotiroidismo refractario al tratamiento con LT-4 es una condición clínica frecuente. Entre las causas se encuentra la falta de adherencia, interacciones con alimentos u otros medicamentos y enfermedades gas trointestinales, como enfermedad inflamatoria intestinal y síndromes de intestino corto. El aumento de la dosis oral de LT-4 no siempre es eficaz en estos escenarios. Por lo tanto, pueden ser necesarias otras vías de administración. En este reporte, evaluamos modalidades alternativas de tratamiento para el hipotiroidismo re fractario y presentamos dos pacientes con malabsorción intestinal tratadas con éxito mediante la administración subcutánea de LT-4.

Abstract Hypothyroidism can usually be treated effectively with oral levothyroxine (LT-4) supplementation. However, hypothyroidism refractory to treatment with LT-4 is a common clinical condition. Causes include poor com pliance, interactions with food or other medications, and gastrointestinal diseases, such as inflammatory bowel disease and short bowel syndromes. Increasing the oral dose of LT-4 is not always effective in these scenarios. Therefore, other routes of administration may be neces sary. In this report, we evaluate alternative treatment modalities for refractory hypothyroidism and present two patients with intestinal malabsorption successfully treated by subcutaneous administration of LT-4.

Caracterización del paciente geriátrico portador de nódulos de tiroides

Fundamento: las enfermedades de la glándula tiroidea son comunes en los adultos mayores y, muchas veces, cursan inadvertidas. Objetivo: caracterizar clínica y ultrasonográficamente a los pacientes geriátricos portadores de nódulo de tiroides. Métodos: se realizó un estudio observacional descriptivo de corte transversal, en el Servicio de Geriatría del Hospital General Docente Martín Chang Puga de la provincia de Camagüey, durante los años 2019 al 2022. Se incluyeron los 48 gerontes atendidos en el servicio y diagnosticados con enfermedad nodular del tiroides. Los datos se obtuvieron de las historias clínicas de los pacientes. Se analizaron las variables edad (por grupos de edades), sexo, color de la piel, manifestaciones clínicas y diagnóstico ecográfico. Resultados: el grupo etario de mayor afectación estuvo entre 60 a 69 años con predominio del femenino y del color blanco de la piel. La astenia prevaleció dentro de las manifestaciones clínicas. En el diagnóstico ecográfico prevaleció el nivel I, según el Thyroid Imaging Reporting and Data System. Conclusiones: la alta prevalencia de las enfermedades del tiroides, en especial en el adulto mayor, hace necesario la realización de un cribado para el diagnóstico ecográfico, al ser una prueba diagnóstica beneficiosa, fiable y a un bajo costo en Atención Primaria de Salud.

Foundation: thyroid gland diseases are common in older adults and often go unnoticed. Objective: to characterize clinically and ultrasonographically geriatric patients with thyroid nodule. Methods: a cross-sectional descriptive observational study was carried out in the Martín Chang Puga Teaching General Hospital geriatrics service in Camagüey province, from 2019 to 2022. 48 elderly were the universe made up who attended in the service, and were diagnosed with nodular thyroid disease. The data was obtained from the patients' medical records, the age groups; sex, skin color, clinical manifestations, and ultrasound diagnosis were the analyzed variables. Results: the most affected age group was between 60 and 69 years old, with a predominance of females and white skin color. Asthenia prevailed within the clinical manifestations. In the ultrasound diagnosis, level I prevailed, according to the Thyroid Imaging Reporting and Data System. Conclusions: the high prevalence of thyroid diseases, especially in the elderly, makes it necessary to perform a screening for ultrasound diagnosis, as it is a beneficial, reliable and low-cost diagnostic test in Primary Health Care.

Cáncer de tiroides en pediatría: a propósito de una entidad poco frecuente

El cáncer de tiroides es una entidad infrecuente en población pediátrica, tiene un conjunto único de características clínicas, patológicas y moleculares en niños. La clínica típica es un nódulo tiroideo de meses de evolución asintomático, como en el caso descrito. En comparación con los adultos, los niños presentan con mayor frecuencia una enfermedad agresiva en etapa avanzada. La conducta de manejo y tratamiento es la cirugía de tiroides radical y el vaciamiento ganglionar amplio, luego yodoterapía y suplencia tiroidea. La supervivencia es excelente, a los 10 años es mayor a 98% sin embargo, se deben recordar las complicaciones relacionadas con el tratamiento de por vida las cuales no son infrecuente.

Thyroid cancer is a rare condition in the pediatric population, it has a unique set of clinical, pathological and molecular characteristics in children. The typical presentation is an asymptomatic thyroid nodule of months of evolution, as in the described case. Compared with adults, children more often present with late-stage aggressive disease. The management and treatment approach is radical thyroid surgery and extensive lymph node dissection, then iodotherapy and thyroid replacement. Survival is excellent, at 10 years it is greater than 98%, however, complications related to lifelong treatment, which are not uncommon, should be kept in mind.

Experiencia en cirugía de tiroides en el Hospital Oncológico Conrado Benítez de Santiago de Cuba

Introducción: Los nódulos de tiroides son un problema clínico común. La tiroidectomía es una de las técnicas más realizadas en los servicios de cabeza y cuello y constituye un tratamiento con intención curativa en el cáncer de tiroides y afecciones benignas como el bocio nodular y el adenoma. Objetivo: Describir la experiencia en cirugía de tiroides del servicio de cabeza y cuello en el Hospital Oncológico Conrado Benítez. Métodos: Se realizó un estudio descriptivo, longitudinal y prospectivo de los pacientes que recibieron algún tratamiento quirúrgico por enfermedad tiroidea en el período comprendido entre el 1 de septiembre de 2017 y el 31 de agosto de 2022. Resultados: El 87 % de los pacientes eran mujeres, con una edad media de 47,1 años. A todos se les realizó ecografía y biopsia por aspiración con aguja fina con una estrecha concordancia con el diagnóstico definitivo. Predominó el carcinoma papilar (39,5 %), la tiroidectomía total como técnica más empleada (86,5 %) y el 94,6 % de los pacientes no tuvo complicaciones. La lesión recurrencial solo estuvo presente en el 1,1 % de los casos. Conclusiones: La experiencia en tiroidectomía en el Hospital Oncológico Conrado Benítez es buena, con una concordancia entre medios diagnósticos y biopsia definitiva, tiempo quirúrgico adecuado y pocas complicaciones.

Introduction: Thyroid nodules are a common clinical problem. Thyroidectomy is one of the most performed techniques in head and neck surgery services, as well a treatment with curative intent for thyroid cancer and benign conditions such as nodular goiter and adenoma. Objective: To describe the experience in thyroid surgery at the head and neck surgery service from Hospital Oncológico Conrado Benítez. Methods: A descriptive, longitudinal and prospective study was carried out with patients who received any surgical treatment for thyroid disease in the period from September 1, 2017 to August 31, 2022. Results: 87 % of patients were female, with a mean age of 47.1 years. All of them underwent ultrasonography and fine-needle aspiration biopsy, presenting a close concordance with their definitive diagnosis. Papillary carcinoma predominated (39.5 %), total thyroidectomy was the most commonly used technique (86.5 %) and 94.6 % of patients had no complications. Any recurrent lesion was present in only 1.1 % of cases. Conclusions: The thyroidectomy experience at Hospital Oncológico Conrado Benítez is good, based on the concordance between diagnostic means and definitive biopsy, as well as adequate surgical time and few complications.

Laboratorio de función tiroidea en pediatría. Ventajas y limitaciones de los métodos indirectos para la obtención de intervalos de referencia / Thyroid function laboratory in pediatrics. Advantages and limitations of indirect methods to obtain reference intervals

Obtener intervalos de referencia (IRs) confiables para pruebas de laboratorio en pediatría es particularmente complejo y costoso. Una alternativa a este problema es el uso de métodos indirectos, donde se usan grandes bases de datos preexistentes de pacientes. Nuestros objetivos fueron: calcular IR para TSH y hormonas tiroideas (Perfil tiroideo, PT) en población pediátrica que asiste al Hospital de Pediatría Juan P. Garrahan, por método indirecto y verificar la confiabilidad de los mismos para su aplicación. Se recolectaron datos de 19.842 pacientes entre enero de 2020 y diciembre de 2021. Se aplicaron filtros para eliminar los pacientes que pudieran tener afectado el PT. Los 4.861 pacientes incorporados al análisis fueron divididos en 3 grupos: G1: 0-12 meses (n: 551), G2:13 meses- 7 años (n: 1347) y G3: 8 -18 años (n: 2963). Los IR fueron calculados por 2 métodos: el de Hoffman adaptado y el de CLSI EP28A3, para cada grupo de edad. TSH, TT3 y T4L se analizaron con Architect i4000-Abbott y TT4 con Immulite 2000XPi-Siemens. Para la primera etapa de verificación se utilizaron 20 sueros de pacientes provenientes de análisis prequirúrgicos. Los outliers se detectaron aplicando el método de Tukey. Los datos fueron procesados según CLSI EP28A3c. Los IR obtenidos fueron similares a los previamente publicados obtenidos por método directo. Los resultados de la verificación fueron en su mayoría aceptados. Por lo tanto, los métodos indirectos son una buena alternativa de cálculo de IR en pediatría (AU)

Obtaining reliable reference ranges (RRs) for laboratory tests in pediatrics is particularly complex and costly. An alternative to this problem is to use of indirect methods, where large pre-existing patient databases are used. Our aims were to calculate RRs for TSH and thyroid hormones (thyroid profile, PT) in children seen at Hospital de Pediatría Juan P. Garrahan by indirect methods and to verify their reliability for their application. Data were collected from 19,842 patients seen between January 2020 and December 2021. Filters were applied to eliminate patients in whom the PT was potentially affected. The remaining 4,861 patients included in the analysis were divided into 3 groups: G1: 0-12 months (n: 551), G2: 13 months-7 years (n: 1347) and G3: 8-18 years (n: 2963). RRs were calculated by 2 methods: the adapted Hoffman method and the CLSI EP28A3 method, for each age group. TSH, TT3, and FT4 were analyzed with Architect i4000-Abbott and TT4 with Immulite 2000XPi-Siemens. For the first stage of verification, 20 patient sera from pre-surgical analysis were used. Outliers were detected by applying the Tukey method. The data were processed according to CLSI EP28A3c. The RRs obtained were similar to those previously published using the direct method. The verification results were mostly acceptable. Therefore, indirect methods are a good option for calculating RRs in children (AU)

Uso adecuado de las pruebas de laboratorio para la evaluación de la función tiroidea en pediatría / Appropriate use of laboratory tests for evaluation of thyroid function in pediatrics

Las pruebas de función tiroidea (PFT) son esenciales para el diagnóstico preciso y el seguimiento eficaz de la disfunción tiroidea. Existe un incremento progresivo y estable de los pedidos de PFT, incluso se han incorporado las mismas a los exámenes de salud anuales en niños sanos. Representan más del 60% de las pruebas realizadas en el laboratorio de endocrinología, tanto en adultos como en los laboratorios especializados en pediatría. Para hacer un uso eficiente de las PFT, antes de solicitarlas debemos preguntarnos… ¿Para quién? ¿Cuándo solicitarlas? ¿Qué pruebas solicitar? ¿Cómo solicitarlas? y ¿Cómo interpretar correctamente los resultados? Un resultado anormal en las PFT no siempre implica patología tiroidea asociada. Las PFT tienen importante variabilidad intra e interindividual lo que hace más compleja su correcta interpretación. La pesquisa de enfermedad tiroidea neonatal es un importante aporte a la prevención de la deficiencia mental en la infancia, su aplicación obligatoria posibilita un diagnóstico temprano, para asegurar su éxito debe considerarse en el marco de un programa integral de detección con estrategias de confirmación, tratamiento temprano y seguimiento a corto, mediano y largo plazo. No debe hacerse un uso indiscriminado de la prueba de estímulo con TRH en el diagnóstico de la patología tiroidea. En pediatría la estrategia de tamiz de enfermedad tiroidea es conveniente realizarla mediante la medición de por lo menos TSH y T4 libre e incluir la determinación de ATPO en grupos de riesgo, a diferencia de la determinación aislada de TSH como es recomendado en adultos. (AU)

Thyroid function tests (TFTs) are essential for accurate diagnosis and effective monitoring of thyroid dysfunction. There is a progressive and steady increase in requests for TFTs, and they have even been incorporated into annual health examinations in healthy children. They represent more than 60% of the tests performed in the endocrinology laboratory, both in adults and in specialized pediatric laboratories. To efficiently use TFTs, before requesting them we should ask ourselves... For whom? When to request them? Which tests to request? How to request them? and How to correctly interpret the results? An abnormal TFT result does not always imply thyroid disease. TFTs have significant intra- and inter-individual variability, which makes their correct interpretation more complex. Screening for newborn thyroid disease is an important contribution to the prevention of intellectual disability in childhood and its mandatory use enables early diagnosis; however, to ensure the test to be successful, it should be considered within the framework of a comprehensive screening program with strategies for confirmation, early treatment, and short-, medium-, and long-term follow-up. The TRH stimulation test in the diagnosis of thyroid disease should not be used indiscriminately. In children, the screening strategy for thyroid disease should be performed by measuring at least TSH and free T4 and include the measurement of TPO-ab in risk groups, as opposed to the isolated measurement of TSH as recommended in adults. (AU)

A study on lipid profile in thyroid dysfunction

Background: Thyroid diseases are among the most common endocrine disorders worldwide. Thyroid hormones play a key role in regulating the synthesis, metabolism, and mobilization of lipids. Levels of circulating lipids may alter in thyroid dysfunction. Aim and Objectives: The aim of the study was to find out the alterations of lipid levels in thyroid dysfunction. Materials and Methods: The study was designed as cross-sectional observational study and analysis of values was done by significant tests difference in means. 20 patients with hypothyroidism, 20 patients with hyperthyroidism, and 20 normal were participated in the study. Levels of total cholesterol, triglycerides, high density lipoprotein cholesterol (HDL-C), very low density lipoprotein cholesterol (VLDL-C), LDL-C, and LDL/HDL ratio were estimated and compared. Results: In patients with hypothyroidism, there was an increase in total cholesterol, LDL-C, and triglyceride levels and decrease in HDL-C levels. In hyperthyroidism, total cholesterol, triglycerides, LDL-C, VLDL-C, and LDL/HDL ratio were found to be significantly decreased. Conclusion: Altered thyroid function can lead to significant changes in the lipid profile. Hypothyroidism is an important risk factor for heart diseases. Hence, routine screening of thyroid hormones may be of considerable help for early intervention and treatment of thyroid dysfunction-related cardiac disease.