[E-consultation as a tool for the relationship between Primary Care and Endocrinology. Impact of COVID-19 epidemic in its use]. / La e-consulta como herramienta para la relación entre Atención Primaria y Endocrinología. Impacto de la epidemia por COVID-19 en su uso.

INTRODUCTION: Electronic consultation (eConsultation) can precede, complete, or replace visits to the specialist. OBJECTIVE: To describe the profile of eConsultations issued from Primary Care (PC) to the Endocrinology Unit since their implementation in our hospital, to assess the response time and to evaluate changes in trends in relation to the COVID19 pandemic. A secondary objective is to evaluate the degree of satisfaction of PC specialists with this tool. MATERIAL AND METHODS: An observational retrospective study of Endocrinology eConsultations conducted from June 2019 to October 2020 analysing 2periods: pre-COVID and post-COVID. The degree of satisfaction of the Family and Community Medicine specialists was assessed by means of a questionnaire. RESULTS: 391 eConsultations were answered (69 pre-COVID and 322 post-COVID). The response time was less than 24h in 85% of them. A total of 35.3% were resolved without the need for visits or additional tests. Thyroid pathology was the most consulted. The incidence was significantly higher in the post-COVID period. The proportion of high resolution was significantly higher in the pre-COVID period. There were no differences in the rest of the parameters analysed in both periods. Thirty-nine point 2percent of PC specialists answered the survey. The degree of satisfaction of PC specialists was high. A total of 92.7% considered that the tool met their expectations and 90.5% were satisfied or very satisfied with its use. CONCLUSION: The COVID epidemic has driven the use of eConsultation in Endocrinology, which makes it possible to precede, complete or replace visits to the specialist, with a high degree of user satisfaction.

Osteogénesis imperfecta forma clásica no deformante. Comunicación de una nueva mutación en el gen COL1A1 en dos casos de la misma familia / Classic non-deforming osteogenesis imperfecta. Report of a new mutation in the COL1A1 gene in two cases in the same family

La osteogénesis imperfecta (OI), es una patología poco frecuente y muy heterogénea desde el punto de vista clínico y genético. Su característica principal es la fragilidad ósea, habiéndose descrito varios tipos. Generalmente es causada por mutaciones en los genes que codifican para las cadenas α1 y α2 del procolágeno tipo 1 (COL1A1 y COL1A2) con herencia autosómica dominante. Comunicamos los casos de dos pacientes (padre e hija) con OI cuyo estudio genético muestra una mutación en COL1A1 no conocida previamente: la deleción de una Guanina, G(c.3524delG). Se repasan aspectos clínicos, de herencia y opciones reproductivas de los pacientes afectados (AU)

Osteogenesis imperfecta (OI), is a rare condition which is heterogeneous in clinical and genetic terms. Several types have been described and its main feature is bone fragility. It is generally caused by gene mutations in those genes which codify for the α1 and α2 of the type 1 collagen (COL1A1 and COL1A2) with dominant autosomal heredity. We report the case of two relatives (father and daughter) with OI whose genetic study shows a mutation in COL1A1 previously undetected: the deletion of a Guanine, G(c.3524delG). Clinical aspects, heredity and reproductive options of the patients affected are considered (AU)

Un caso de hipopituitarismo y porfiria cutánea tarda por estrógenos en paciente con silla turca vacía / A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome

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Captación patológica de I-131 en pulmón en paciente con cáncer de tiroides: ¿metástasis o no? / Abnormal uptake of l-131 in the lung in a patient with thyroid cancer: Is it metastasis or not?

Mujer de 66 años con antecedentes de bronquiectasias quísticas en pulmón derecho en su infancia, que es remitida a consultas de Endocrinología para estudio de bocio multinodular. La paciente no refería antecedentes personales ni familiares de carcinoma de tiroides. En analítica realizada presenta las siguientes determinaciones hormonales: T4 libre 1,14μg/dl (LN: 0,9-1,7) y TSH 2,45μU/ml (LN 0,3-4,5). La ecografía mostraba varios nódulos en lóbulo tiroideo izquierdo menores de 1cm, hipoecogénicos y bien definidos, y uno mayor en lóbulo tiroideo derecho de 1,5cm, hipoecogénico, con aumento de vascularización central, microcalcificaciones y ausencia de halo. Se realizó punción-aspiración con aguja fina (PAAF) de este nódulo guiada por ecografía, y el resultado de la punción fue sospechoso de malignidad, motivo por el cual se decidió tratamiento quirúrgico mediante tiroidectomía total. El estadificación inicial según la American Joint Committee on Cancer (AJCC) fue pT1NxM0. El informe anatomo-patológico reveló varios focos de microcarcinoma folicular y papilar de 0,1 a 0,4cm en ambos lóbulos tiroideos. La paciente fue tratada con levotiroxina oral a dosis supresoras para evitar crecimiento tumoral. Cuatro meses después de la intervención recibió una dosis ablativa de yodo radiactivo (debido a la multifocalidad del tumor y al desconocimiento sobre la afectación ganglionar). Un año más tarde se realizó ecografía tiroidea que no mostró imágenes sospechosas de malignidad, así como niveles de Tg tras TSHr (que resultaron indetectables) y un rastreo corporal total diagnóstico con TSHr donde se evidenció un depósito patológico del radiotrazador en pulmón derecho de características heterogéneas y que sugerían la posibilidad de metástasis. ¿Cómo debe ser evaluada y tratada esta enferma?(AU)

A 66-year old woman with a background of cystic bronchiectasis in the right lung in her childhood was referred to Endocrinology for a study of multinodular goiter. The patient did not report any personal or family backgrounds of thyroid cancer. The analysis showed the following hormone levels: Free T4 1.14μg/dl (LN: 0.9-1.7) and TSH 2.45μU/ml (LN 0.3-4.5). The ultrasound showed several left thyroid lobe nodes smaller than 1cm, hypoechogenic and well-defined and a larger one in the right thyroid lobe of 1.5cm, hypoechogenic, with increase of central vascularization, microcalcifications and absence of halo. Ultrasound-guided fine needle aspiration puncture (FNAP) was performed on this node. The result of the puncture was suspicion of malignancy, which is why it was decided to perform surgical treatment by total thyroidectomy. Initial staging according to the American Joint Committee on Cancer (AJCC) was pT1NxM0. The pathology report revealed several foci of follicular and papillary microcarcinoma of 0.1 to 0.4cm in both thyroid lobes. The patient was treated with suppressive doses of oral levothyroxine to avoid tumor growth. Four months after the surgery, she received an ablative dose of radioactive iodine (due to the multifocality of the tumor and the lack of knowledge on the lymph node involvement). One year later, a thyroid ultrasound was performed that did not show suspicious images of malignancy. Levels of Tg after TSHr (that were undetectable) and a total diagnostic body scan with TSHr were performed. These showed an abnormal deposit of the radiotracer in the right lung having heterogeneous characteristics that suggested the possibility of metastases. How should this patient be evaluated and treated?(AU)

[Abnormal uptake of l-131 in the lung in a patient with thyroid cancer: is it metastasis or not?]. / Captación patológica de I-131 en pulmón en paciente con cáncer de tiroides: ¿metástasis o no?

A 66-year old woman with a background of cystic bronchiectasis in the right lung in her childhood was referred to Endocrinology for a study of multinodular goiter. The patient did not report any personal or family backgrounds of thyroid cancer. The analysis showed the following hormone levels: Free T4 1.14 µg/dl (LN: 0.9-1.7) and TSH 2.45 µU/ml (LN 0.3-4.5). The ultrasound showed several left thyroid lobe nodes smaller than 1cm, hypoechogenic and well-defined and a larger one in the right thyroid lobe of 1.5 cm, hypoechogenic, with increase of central vascularization, microcalcifications and absence of halo. Ultrasound-guided fine needle aspiration puncture (FNAP) was performed on this node. The result of the puncture was suspicion of malignancy, which is why it was decided to perform surgical treatment by total thyroidectomy. Initial staging according to the American Joint Committee on Cancer (AJCC) was pT1NxM0. The pathology report revealed several foci of follicular and papillary microcarcinoma of 0.1 to 0.4 cm in both thyroid lobes. The patient was treated with suppressive doses of oral levothyroxine to avoid tumor growth. Four months after the surgery, she received an ablative dose of radioactive iodine (due to the multifocality of the tumor and the lack of knowledge on the lymph node involvement). One year later, a thyroid ultrasound was performed that did not show suspicious images of malignancy. Levels of Tg after TSHr (that were undetectable) and a total diagnostic body scan with TSHr were performed. These showed an abnormal deposit of the radiotracer in the right lung having heterogeneous characteristics that suggested the possibility of metastases.

Fluorimetric sequential injection determination of magnesium using 8-hydroxiquinoline-5-sulfonic acid in a micellar medium.

A fluorimetric sequential injection method for the determination of magnesium is proposed. The system is based on the complex formation between Mg(II) and 8-hydroxyquinoline-5-sulfonic acid (HQS). The reaction was carried out in the presence of ethylene glycol-bis(beta-aminoethyl ether)-N,N,N',N'-tetraacetic acid (EGTA) as a masking agent. Cetyltrimethylammonium chloride (HTAC) was employed as a fluorescence enhancer. The influence of several variables, such as reagent concentration, volumes and pH has been investigated. The reagent was prepared in a 0.1 M Tris-HCl buffer solution (pH 9). A detection limit of 12 mug l(-1) magnesium was obtained. The proposed method was applied to the determination of magnesium in natural waters.