Renin as a Biomarker to Guide Medical Treatment in Primary Aldosteronism Patients. Findings from the SPAIN-ALDO Registry.

INTRODUCTION: Primary aldosteronism (PA) is associated with several cardiometabolic comorbidities. Specific treatment by mineralocorticoid receptor antagonists (MRA) or adrenalectomy has been reported to reduce the cardiometabolic risk. However, the cardiovascular benefit could depend on plasma renin levels in patients on MRA. AIM: To compare the development of cardiovascular, renal and metabolic complications between medically treated patients with PA and those who underwent adrenalectomy, taking the renin status during MRA treatment into account. METHODS: A multicenter retrospective study (SPAIN-ALDO Register) of patients with PA treated at 35 Spanish tertiary hospitals. Patients on MRA were divided into two groups based on renin suppression (n = 90) or non-suppression (n = 70). Both groups were also compared to unilateral PA patients (n = 275) who achieved biochemical cure with adrenalectomy. RESULTS: Adrenalectomized patients were younger, had higher plasma aldosterone concentration, and lower potassium levels than MRA group. Patients on MRA had similar baseline characteristics when stratified into treatment groups with suppressed and unsuppressed renin. 97 (55.1%) of 176 patients without comorbidities at diagnosis, developed at least one comorbidity during follow-up (median 12 months vs. 12.5 months' follow-up after starting MRA and surgery, respectively). Surgery group had a lower risk of developing new cardiovascular events (HR 0.40 [95% CI 0.18-0.90]) than MRA group. Surgical treatment improved glycemic and blood pressure control, increased serum potassium levels, and required fewer antihypertensive drugs than medical treatment. However, there were no differences in the cardiometabolic profile or the incidence of new comorbidities between the groups with suppressed and unsuppressed renin levels (HR 0.95 [95% CI 0.52-1.73]). CONCLUSION: Cardiovascular, renal, and metabolic events were comparable in MRA patients with unsuppressed and suppressed renin. Effective surgical treatment of PA was associated with a decreased incidence of new cardiovascular events when compared to MRA therapy.

Recomendaciones sobre el uso de la telemedicina aplicada a la patología nutricional / Recommendations on the use of telemedicine as applied to nutritional pathology

Introducción: la telemedicina puede mejorar la calidad asistencial y el uso de recursos. La pandemia de COVID-19 ha hecho necesaria su implementación en la práctica habitual. Por ello, un grupo de endocrinólogos de la Comunidad Valenciana, Murcia y Baleares creó un comité para su desarrollo. Objetivos: establecer unas recomendaciones para mejorar la calidad de la consulta de patología nutricional y diseñar unos indicadores para su gestión. Metodología: se siguió la metodología Delphi con participación de 13 profesionales con el fin de alcanzar el mayor consenso. Para ello se circuló un cuestionario de 16 puntos en 3 rondas: en la primera se estableció el grado de consenso; en la segunda, los participantes tuvieron acceso a los resultados de la primera y respondieron a las cuestiones planteadas. Se consideró que había acuerdo si el consenso era ≥ 75 % de los participantes, y que existía acuerdo fuerte si este era ≥ 90 %. Además, se estableció la temática de los indicadores de calidad. En la tercera se desarrollaron dichos indicadores. Resultados: tras 3 rondas y una reunión de revisión se establecieron los sobre aspectos organizativos 5 recomendaciones con acuerdo fuerte; sobre los aspectos administrativos, 6 recomendaciones con acuerdo fuerte y 4 con acuerdo. Se seleccionaron 8 indicadores de calidad que se desarrollaron en formato de fichas. Conclusiones: este documento recopila una serie de recomendaciones sobre cuestiones, necesidades y requisitos a tener en cuenta para una consulta telemática de calidad al paciente con patología nutricional. Así mismo, se han desarrollado unos indicadores para mejorar la calidad asistencial (AU)

Introduction: telemedicine can improve the standards of clinical care and use of resources. The COVID-19 pandemic has required its implementation in routine practice. For this reason, a group of endocrinologists from Valencia, Murcia and the Balearic Islands created a committee for its development. Objectives: to establish recommendations in order to improve the quality of consultation in nutritional disorders, and to create indicators for its management. Methodology: the Delphi methodology was followed with the participation of 13 professionals in order to reach the widest consensus. A 16-item questionnaire was distributed within 3 rounds: in the first round, the degree of consensus was established; in the second round, the participants responded to the posed questions after having access to the first-round results. Agreement was considered if ≥ 75 % participants reached consensus, while strong agreement was considered if consensus was reached by ≥ 90 %. In addition, quality indicators were established. In a third round, these indicators were developed. Results: after 3 rounds and a revision 5 recommendations with strong agreement were established based on organizational aspects. Regarding administrative aspects, 6 recommendations with strong agreement were established while 4 recommendations reached the level of agreement. Eight quality indicators were selected and developed. Conclusions this document compiles a list of recommendations about needs and requirements to be taken into account for a quality telematic consultation in patients with nutritional disorders. In addition, health care quality indicators have been created and developed (AU)

[Recommendations on the use of telemedicine as applied to nutritional pathology]. / Recomendaciones sobre el uso de la telemedicina aplicada a la patología nutricional.

Introduction: Introduction: telemedicine can improve the standards of clinical care and use of resources. The COVID-19 pandemic has required its implementation in routine practice. For this reason, a group of endocrinologists from Valencia, Murcia and the Balearic Islands created a committee for its development. Objectives: to establish recommendations in order to improve the quality of consultation in nutritional disorders, and to create indicators for its management. Methodology: the Delphi methodology was followed with the participation of 13 professionals in order to reach the widest consensus. A 16-item questionnaire was distributed within 3 rounds: in the first round, the degree of consensus was established; in the second round, the participants responded to the posed questions after having access to the first-round results. Agreement was considered if ≥ 75 % participants reached consensus, while strong agreement was considered if consensus was reached by ≥ 90 %. In addition, quality indicators were established. In a third round, these indicators were developed. Results: after 3 rounds and a revision 5 recommendations with strong agreement were established based on organizational aspects. Regarding administrative aspects, 6 recommendations with strong agreement were established while 4 recommendations reached the level of agreement. Eight quality indicators were selected and developed. Conclusions: this document compiles a list of recommendations about needs and requirements to be taken into account for a quality telematic consultation in patients with nutritional disorders. In addition, health care quality indicators have been created and developed.

Introducción: Introducción: la telemedicina puede mejorar la calidad asistencial y el uso de recursos. La pandemia de COVID-19 ha hecho necesaria su implementación en la práctica habitual. Por ello, un grupo de endocrinólogos de la Comunidad Valenciana, Murcia y Baleares creó un comité para su desarrollo. Objetivos: establecer unas recomendaciones para mejorar la calidad de la consulta de patología nutricional y diseñar unos indicadores para su gestión. Metodología: se siguió la metodología Delphi con participación de 13 profesionales con el fin de alcanzar el mayor consenso. Para ello se circuló un cuestionario de 16 puntos en 3 rondas: en la primera se estableció el grado de consenso; en la segunda, los participantes tuvieron acceso a los resultados de la primera y respondieron a las cuestiones planteadas. Se consideró que había acuerdo si el consenso era ≥ 75 % de los participantes, y que existía acuerdo fuerte si este era ≥ 90 %. Además, se estableció la temática de los indicadores de calidad. En la tercera se desarrollaron dichos indicadores. Resultados: tras 3 rondas y una reunión de revisión se establecieron los sobre aspectos organizativos 5 recomendaciones con acuerdo fuerte; sobre los aspectos administrativos, 6 recomendaciones con acuerdo fuerte y 4 con acuerdo. Se seleccionaron 8 indicadores de calidad que se desarrollaron en formato de fichas. Conclusiones: este documento recopila una serie de recomendaciones sobre cuestiones, necesidades y requisitos a tener en cuenta para una consulta telemática de calidad al paciente con patología nutricional. Así mismo, se han desarrollado unos indicadores para mejorar la calidad asistencial.

Percutaneous ethanol injection therapy as the first line of treatment of symptomatic thyroid cysts.

BACKGROUND: Our aim was to evaluate the efficacy and security of ultrasound-guided percutaneous ethanol injection therapy (US-PEIT) for the treatment of recurrent symptomatic thyroid cysts in two high-resolution consultations of thyroid nodule in the Valencian Community. PATIENTS AND METHODS: The study comprised thirty-three consecutive patients (51 ±â€¯12 years, 76% women) with symptomatic benign thyroid cysts relapsed after drainage and benign cytology prior to treatment. Through ultrasound, maximum cyst diameter and volume were determined, and the content of the cyst was drained. We then instilled between 2 and 4 ml of ethanol (according to initial volume). We followed up with ultrasound at one, 3, 6 and 12 months and we calculated the total volume and the Volume Reduction Rate (VRR). We evaluated the perceived pain using a visual analog scale. RESULTS: The initial median cyst volume was 11.6 ml (8.5-16.5) A single session of US-PEIT was required in 22 patients (67%), two in 8 (24%) and three in 3 (9%). During PEIT, 49% of the patients experienced virtually no pain, 39% mild pain and 12% moderate pain. There were no complications. After 6 months of follow up the median VRR was 93% (84-98). All the patients achieved a volume reduction of more than 50%, 94% of more than 70% and 56% of more than 90%. Twenty-four patients completed a year of follow-up, achieving a VRR of 97% (93-98). CONCLUSIONS: In our experience US-PEIT has proven to be an effective, safe treatment of symptomatic thyroid cysts. For this reason it can be considered as the first line of treatment and included in the portfolio of services of a high-resolution consultation.

Complejo de Carney / Carney complex

El complejo de Carney (CNC) es un síndrome de herencia autosómica dominante caracterizado por mixomas en diferentes localizaciones, hiperpigmentación cutánea y afectación de glándulas endocrinas. La afectación cutánea más característica es la presencia de lentiginosis y nevus azules. Los mixomas pueden hallarse en tejido subcutáneo, mamario o en región cardíaca. Los mixomas cardíacos pueden ser múltiples, localizados en cualquier cámara cardíaca y presentan mayor riesgo de recurrencia. La manifestación endocrinológica más frecuente es la presencia de un síndrome de Cushing independiente de ACTH debido a enfermedad adrenocortical nodular pigmentada primaria (primary pigmented nodular adrenal disease o PPNAD). La PPNAD puede manifestarse de manera aislada sin otras manifestaciones del CNC. Otras glándulas afectadas son la hipófisis, tiroides y gónadas. El gen PRKAR1A localizado en 17q22-24 codifica la subunidad reguladora R1A de la proteína kinasa A. Mutaciones inactivantes de este gen se encuentran en un 70% de pacientes con CNC. PRKAR1A es un componente clave de la vía celular de señalización del AMPc implicado en la presencia de tumorogénesis de origen endocrinológico. Se han descrito numerosas mutaciones en el gen PRKAR1A y la práctica totalidad de ellas conllevan cambios en la secuencia que dan lugar a codones de terminación prematuros y el RNAm resultante es degradado por la mRNA nonsense mediated decay. No existe una clara relación entre genotipo y fenotipo en los pacientes con CNC. Se ha de realizar estudio genético en todos los casos índice. El seguimiento para todas las manifestaciones clínicas del CNC deberían realizarse anualmente en los pacientes afectados. El estudio genético posibilita preparar de manera más efectiva nuevas estrategias terapéuticas y consejo genético para los pacientes y portadores, y evita la realización de pruebas innecesarias en familiares no portadores (AU)

Abstract Carney complex (CNC) is an autosomal dominantly inherited syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxoma, and endocrine over activity. Skin pigmentation includes lentigines and blue nevi. Myxomas may occur in breast, skin and heart. Cardiac myxomas may be multiple and occur in any cardiac chamber, and are more prone to recurrence. The most common endocrine gland manifestation is an ACTH-independent Cushing’s syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). PPNAD may occur isolated, with no other signs of CNC. Pituitary and thyroid glands and gonads are also involved. The PRKAR1A gene, located in 17 q22-24, encodes type 1A regulatory subunit of protein kinase A. Inactivating germline mutations of this gene are found in 70% of patients with CNC.PRKAR1A is a key component of the c-AMP signaling pathway that has been implicated in endocrine tumorigenesis. Many different mutations have been reported in the PRKAR1A gene. In almost all cases the sequence change was predicted to lead to a premature stop codon and the resultant mutant mRNA was subject to nonsense-mediated mRNA decay. There is no cleargenotype-phenotype correlation in patients with CNC. Genetic analysis should be performed in all CNC index cases. All affected patients should be monitored for clinical signs of CNC at least once a year. Genetic diagnosis allows for more effective preparation of more appropriate and effective therapeutic strategies and genetic counseling for patients and gene carriers, and to avoid unnecessary tests to relatives not carrying the gene (AU)

[Carney complex]. / Complejo de Carney.

Carney complex (CNC) is an autosomal dominantly inherited syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxoma, and endocrine overactivity. Skin pigmentation includes lentigines and blue nevi. Myxomas may occur in breast, skin and heart. Cardiac myxomas may be multiple and occur in any cardiac chamber, and are more prone to recurrence. The most common endocrine gland manifestation is an ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). PPNAD may occur isolated, with no other signs of CNC. Pituitary and thyroid glands and gonads are also involved. The PRKAR1A gene, located in 17 q22-24, encodes type 1A regulatory subunit of protein kinase A. Inactivating germline mutations of this gene are found in 70% of patients with CNC. PRKAR1A is a key component of the c-AMP signaling pathway that has been implicated in endocrine tumorigenesis. Many different mutations have been reported in the PRKAR1A gene. In almost all cases the sequence change was predicted to lead to a premature stop codon and the resultant mutant mRNA was subject to nonsense-mediated mRNA decay. There is no clear genotype-phenotype correlation in patients with CNC. Genetic analysis should be performed in all CNC index cases. All affected patients should be monitored for clinical signs of CNC at least once a year. Genetic diagnosis allows for more effective preparation of more appropriate and effective therapeutic strategies and genetic counseling for patients and gene carriers, and to avoid unnecessary tests to relatives not carrying the gene.