Differentiated thyroid cancer in navarra (Spain): historic cohort results (1987-2003).

Introduction. Navarra has the highest incidence of differentiated thyroid cancer in Spain. The aim of this study was to review its management carried out by the Navarra's multidisciplinary Thyroid Disease Unit, from 1987 to 2003. Material and Methods. 325 patients were studied to find the incidence, prevalence, and prognostic factors. Statistical analysis comprised univariate and multivariate Cox proportional hazards regression models for survival and tumor recurrence. Results. The average annual incidence was 3.6 per 100,000 inhabitants, with a final prevalence of 82.4 per 100,000. Regarding survival and recurrence, statistical significance was observed for stage IV, follicular carcinoma, capsular and prethyroid muscles invasion, and T4 group. Only survival was related to tumour size larger than 40 mm. Only recurrence was related to lymph node metastases and radioiodine dose higher than 100 mCi. Conclusions. Attendance of patients in a functional unit setting has allowed us to classify them into three risk groups.

Retinografía no midriática para la detección de la retinopatía diabética. Un ejemplo de adaptación al medio / Non-mydiatric retinography for the detection of diabetic retinopathy. An example of adaptation to the setting

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Estudio de enfermedad celíaca en pacientes adultos con diabetes mellitus de tipo 1 / Study of celiac disease in adults with type 1 diabetes mellitus

En el presente estudio determinamos los citados anticuerpos a 463 pacientes con DM1 y, a los que presentaban positividad para alguno de ellos, se les propuso la realización de una endoscopia con toma de biopsias de duodeno distal, y se clasificaron las lesiones histológicas, cuando existieron, según la clasificación de Marsh.Sesenta y dos de los 463 (13,4%) pacientes presentaron al menos uno de los 3 anticuerpos positivo y, de ellos, 42 accedieron a la realización de la endoscopia. En 14 pacientes (3% de los diabéticos) se encontraron alteraciones histológicas compatibles con EC. La mayoría de estos 14 pacientes no refería síntomas relacionados con la enfermedad, aunque varios presentaban alteraciones analíticas presentes frecuentemente en la EC. La existencia de datos clinicoanalíticos compatibles con EC fue independiente del grado de lesión histológica. Al analizar la sensibilidad y el valor predictivo positivo para cada anticuerpo, los ATG y EMA fueron los más sensibles, si bien la facilidad técnica de detección de los ATG mediante técnicas de ELISA hace, en nuestra opinión, que sea el de elección para la realización del cribado(AU)

Celiac disease (CD) presents a wide clinical spectrum. There are asymptomatic or oligosymptomatic forms, which are difficult to diagnose. Since patients with untreated CD can develop severe complications, early diagnosis of these forms is important. Consequently, in groups at risk for CD, such as patients with type 1 diabetes (DM1), screening through determination of antigliadin (AGA), anti-tissue transglutaminase (ATG) and antiendomysial antibodies (EMA) is recommended. In the present study, 463 DM1 patients were screened for these antibodies. Patients who were positive for one or more were offered an upper endoscopy to obtain distal duodenum biopsies. Histological lesions, when present, were classified using Marsh's classification. Of the 463 patients, 62 (13.4%) were positive for at least one of the three antibodies, and 42 accepted to undergo an endoscopy. Fourteen patients (3% of the DM1 patients) were histologically diagnosed with CD. Most of these patients had no symptoms of CD, although some showed laboratory findings frequent in CD. The presence of clinical or analytical data compatible with CD was independent of the grade of histological lesions. Finally, we calculated the sensitivity and positive predictive value for each antibody. The most sensitive were ATG and EMA. Because of the technical simplicity of determining ATG with ELISA, in our opinion, this test should be the option of choice for screening (AU)

[Study of celiac disease in adults with type 1 diabetes mellitus]. / Estudio de enfermedad celíaca en pacientes adultos con diabetes mellitus de tipo 1.

Celiac disease (CD) presents a wide clinical spectrum. There are asymptomatic or oligosymptomatic forms, which are difficult to diagnose. Since patients with untreated CD can develop severe complications, early diagnosis of these forms is important. Consequently, in groups at risk for CD, such as patients with type 1 diabetes (DM1), screening through determination of antigliadin (AGA), anti-tissue transglutaminase (ATG) and antiendomysial antibodies (EMA) is recommended. In the present study, 463 DM1 patients were screened for these antibodies. Patients who were positive for one or more were offered an upper endoscopy to obtain distal duodenum biopsies. Histological lesions, when present, were classified using Marsh's classification. Of the 463 patients, 62 (13.4%) were positive for at least one of the three antibodies, and 42 accepted to undergo an endoscopy. Fourteen patients (3% of the DM1 patients) were histologically diagnosed with CD. Most of these patients had no symptoms of CD, although some showed laboratory findings frequent in CD. The presence of clinical or analytical data compatible with CD was independent of the grade of histological lesions. Finally, we calculated the sensitivity and positive predictive value for each antibody. The most sensitive were ATG and EMA. Because of the technical simplicity of determining ATG with ELISA, in our opinion, this test should be the option of choice for screening.

Inédita coincidencia: feocromocitoma sobre glándula suprarrenal atrófica por enfermedad de Addison / An unusual association: pheochromocytoma on an atrophied adrenal gland due to Addison´s disease

El síndrome pluriglandular autoinmunitario (SPGA) tipo II es el síndrome inmunoendocrinopatológico más frecuente. Se define por la aparición de2 o más de las siguientes entidades: insuficiencia suparrenal primaria(enfermedad de Addison), enfermedad de Graves, diabetes mellitus tipo1A, tiroiditis autoinmunitaria, hipogonadismo primario, enfermedad celíaca o miastenia grave. Asimismo, es frecuente que aparezcan también vitíligo, alopecia, anemia perniciosa y/o serositis. La insuficiencia suprarrenal primaria con la que cursan estos pacientes afecta a la corteza adrenal, y ésta es destruida por los auto anticuerpos contra la 21-hidroxilasa. A diferencia de las demás etiologías de la insuficiencia suprarrenal (enfermedades infecciosas, enfermedades infiltrativas, hemorragia, enfermedades tumorales), respeta la médula adrenal. Los feocromocitomas son tumores derivados de las células cromafines del sistema nervioso simpático situadas en la médula adrenal. Pueden cursar con manifestaciones clínicas muy variadas, desde una hipertensión arterial (HTA) aislada o acompañada de episodios paroxísticos, que incluyen la clásica tríada de cefalea, palpitaciones y diaforesis, hasta cuadros potencialmente graves, como edema agudo de pulmón, arritmias o muerte súbita. No hay que olvidar que hasta el 40% son asintomáticos. A continuación, presentamos el caso de una paciente diagnosticada de SPGA tipo II, que desarrolla un feocromocitoma. En esta ocasión, en una glándula adrenal cortical atrofiada se desarrolla un tumor dependiente de la médula adrenal. Esta coexistencia de endocrinopatías, sin conexión etiológica alguna, no deja de ser cuando menos un hallazgo sorprendente, no descrito hasta el momento en la literatura actual (AU)

Autoimmune polyendocrine syndrometype II (APS-II) is the most commonimmunoendocrinopathy syndrome. APS-IIis defined by the development of two or more of the following entities: primaryadrenal insufficiency (Addison’s disease),Graves’ disease, type 1A diabetes mellitus,autoimmune thyroiditis, primaryhypogonadism, celiac disease, and myasthenia gravis. Other frequent clinical findings are vitiligo, alopecia, pernicious anemia and/or serositis. Primary adrenal insufficiency in these patients affects the adrenal cortex, which is destroyed byautoantibodies against 21-hydroxylase.Unlike other causes of adrenal insufficiency (infectious diseases, infiltrative diseases, bleeding, tumors), the adrenal medulla is not involved. Pheochromocytomas are tumors arising from the chromaffin cells of the sympathetic nervous system in the adrenal medulla. The clinical symptoms of these tumors vary from isolated hypertension or hypertension accompanied by paroxysmal episodes —including the classical triad of headache, palpitations and diaphoresis—to potentially serious manifestations such as acute pulmonary edema, arrhythmias and sudden death. Nevertheless, up to 40%of affected patients are asymptomatic. We present the case of a patient diagnosed with APS-II who developed apheochromocytoma. In this patient, the adrenal gland cortex was atrophied andthe tumor was attached to the adrenal medulla. This coexistence ofendocrinopathies, with no etiologic connection, is a surprising finding, which has not previously been described in the current literatura (AU)

An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease.

Autoimmune polyendocrine syndrome type II (APS-II) is the most common immunoendocrinopathy syndrome. APS-II is defined by the development of two or more of the following entities: primary adrenal insufficiency (Addison's disease), Graves' disease, type 1A diabetes mellitus, autoimmune thyroiditis, primary hypogonadism, celiac disease, and myasthenia gravis. Other frequent clinical findings are vitiligo, alopecia, pernicious anemia and/or serositis. Primary adrenal insufficiency in these patients affects the adrenal cortex, which is destroyed by autoantibodies against 21-hydroxylase. Unlike other causes of adrenal insufficiency (infectious diseases, infiltrative diseases, bleeding, tumors), the adrenal medulla is not involved. Pheochromocytomas are tumors arising from the chromaffin cells of the sympathetic nervous system in the adrenal medulla. The clinical symptoms of these tumors vary from isolated hypertension or hypertension accompanied by paroxysmal episodes -including the classical triad of headache, palpitations and diaphoresis-to potentially serious manifestations such as acute pulmonary edema, arrhythmias and sudden death. Nevertheless, up to 40% of affected patients are asymptomatic. We present the case of a patient diagnosed with APS-II who developed a pheochromocytoma. In this patient, the adrenal gland cortex was atrophied and the tumor was attached to the adrenal medulla. This coexistence of endocrinopathies, with no etiologic connection, is a surprising finding, which has not previously been described in the current literature.

Genética del carcinoma medular de tiroides / Genetics of medullary thyroid carcinoma

El carcinoma medular de tiroides (CMT) puede presentarse en forma esporádica o familiar, en cuyo caso se integra en la neoplasia endocrina múltiple tipo 2 (NEM 2). La NEM 2 se origina como consecuencia de mutaciones germinales en el gen RET. Este gen incluye 21 exones y codifica el receptor RET, un receptor de membrana citoplasmática con actividad tirosinacinasa. La peculiaridad de esta alteración reside en la posibilidad de establecer una relación genotipo-fenotipo. Las distintas mutaciones en los codones del gen RET dan lugar a diversos cuadros clínicos, etiquetados clásicamente como NEM 2A, NEM 2B y CMTF (CMT familiar). En los últimos años se ha añadido una nueva clasificación en función de la agresividad del comportamiento tumoral, en la que se distinguen 3 niveles de riesgo. En la presente revisión exponemos las características fisiológicas y patológicas del gen RET, la relación genotipo-fenotipo tanto clásica como por grados de agresividad, los elementos posiblemente modificadores en esa relación (polimorfismos de un único nucleótido), la actitud a adoptar ante el CMT y el tratamiento recomendado según las características genéticas (AU)

Medullary thyroid carcinoma (MTC) can be sporadic or hereditary. The hereditary form of MTC is classified as multiple endocrine neoplasia type 2 (MEN 2). MEN 2 syndromes are caused by germinal mutations in the RET proto-oncogene. The RET gene includes 21 exons and encodes a plasma membrane-bound tyrosine kinase enzyme, the RET receptor. The peculiarity of this disease lies in the possibility of establishing genotype-phenotype correlations. Distinct RET codon mutations give rise to the different MEN 2 syndromes, traditionally classified as MEN 2A, MEN 2B and familial MTC. In the last few years, a new classification has been suggested, based on biologic tumoral aggressiveness, in which RET mutations are stratified into three levels of risk. In this review, we explain the physiological and pathological features of the RET gene, genotype-phenotype correlations (both traditional and the new risk classification), the elements that may modify this relationship (such as single nucleotide polymorphisms), suggested clinical decision-making in MTC and genetically-based treatment (AU)

Prognostic value of thyroglobulin serum levels and 131I whole-body scan after initial treatment of low-risk differentiated thyroid cancer.

Diagnostic iodine-131 whole-body scan ((131)I-WBS) and serum thyroglobulin values (Tg) performed 6 to 12 months after thyroid ablation for differentiated thyroid carcinoma were evaluated in 194 consecutive patients at the Hospital de Navarra, (Pamplona, Spain). All patients underwent near-total thyroidectomy and (131)I ablation with 3.7 GBq. Patients with positive anti-Tg antibodies or with (131)I uptake outside the neck were previously excluded. Uptake of (131)I in the thyroid bed was detected in 27 patients (13.9%). Serum Tg levels were below 0.5 ng/mL in 133 patients, ranged from 0.5-10 ng/mL in 39 patients, and was above 10 ng/mL in 22 patients. After a follow-up of 7.7 +/- 3.3 years, persistence of the illness has been observed in 2 patients with undetectable Tg (1.5%), but metastases were not detected in any case. In those with Tg higher than 0.5 ng/mL, 29 of 61 patients had persistence of the disease (47.5%) with evidence of metastases in 15 (24.5%), irrespective of the initial total body scan (131)I uptake. In conclusion, serum Tg levels obtained after thyroid ablation has a good prognostic value and permits the selection of patients for further diagnostic studies, while diagnostic (131)I-WBS performed at that time did not correlate with results of Tg and scarcely provides additional information.