Impact of COVID-19 in nutritional and functional status of survivors admitted in intensive care units during the first outbreak. Preliminary results of the NUTRICOVID study.

BACKGROUND & AIMS: COVID-19 patients present a high hospitalization rate with a high mortality risk for those requiring intensive care. When these patients have other comorbid conditions and older age, the risk for severe disease and poor outcomes after ICU admission are increased. The present work aims to describe the preliminary results of the ongoing NUTRICOVID study about the nutritional and functional status and the quality of life of adult COVID-19 survivors after ICU discharge, emphasizing the in-hospital and discharge situation of this population. METHODS: A multicenter, ambispective, observational cohort study was conducted in 16 public hospitals of the Community of Madrid with COVID-19 survivors who were admitted to the ICU during the first outbreak. Preliminary results of this study include data retrospectively collected. Malnutrition and sarcopenia were screened at discharge using MUST and SARC-F; the use of healthcare resources was measured as the length of hospital stay and requirement of respiratory support and tracheostomy during hospitalization; other study variables were the need for medical nutrition therapy (MNT); and patients' functional status (Barthel index) and health-related quality of life (EQ-5D-5L). RESULTS: A total of 176 patients were included in this preliminary analysis. Most patients were male and older than 60 years, who suffered an average (SD) weight loss of 16.6% (8.3%) during the hospital stay, with a median length of stay of 53 (27-89.5) days and a median ICU stay of 24.5 (11-43.5) days. At discharge, 83.5% and 86.9% of the patients were at risk of malnutrition and sarcopenia, respectively, but only 38% were prescribed MNT. In addition, more than 70% of patients had significant impairment of their mobility and to conduct their usual activities at hospital discharge. CONCLUSIONS: This preliminary analysis evidences the high nutritional and functional impairment of COVID-19 survivors at hospital discharge and highlights the need for guidelines and systematic protocols, together with appropriate rehabilitation programs, to optimize the nutritional management of these patients after discharge.

Inmunonutrición del paciente quirúrgico en los procedimientos fast-track: revisión de la evidencia y algoritmo adaptado / Immunonutrition in fast-track surgical patients - Evidence review and adapted algorithm

El estrés quirúrgico predispone a los pacientes a la disfunción inmune y a un mayor riesgo de infección. Los pacientes quirúrgicos desnutridos presentan una mayor morbimortalidad posoperatoria, mayores tasas de reingreso y costes hospitalarios más elevados. En las guías de la ESPEN se asocia el uso de una fórmula inmunomoduladora a una reducción significativa de los problemas de la cicatrización de heridas, de los fallos de la sutura y de las complicaciones infecciosas y globales. Varios autores han sugerido que, dado que la mayoría de los ensayos clínicos que evalúan la eficacia de la inmunonutrición se han realizado en un entorno perioperatorio tradicional, sería interesante investigar su eficacia en un entorno más controlado, como en el protocolo ERAS (Enhanced Recovery after Surgery). El objetivo de este trabajo es: a) definir el papel que debe jugar la inmunonutrición en los protocolos ERAS sobre la base de la mejor evidencia científica; b) analizar las dificultades que siguen existiendo en la práctica clínica real para realizar el cribado del riesgo nutricional del paciente; c) proponer unos algoritmos adaptados a las características de nuestro entorno sobre el cribado, la valoración y el tratamiento nutricional del paciente quirúrgico en modalidad fast-track. (AU)

Surgical stress predisposes patients to have immune dysfunction and an increased risk of infection. Malnourished surgical patients have higher postoperative morbidity and mortality rates, higher readmission rates, and higher hospital costs. The use of an immunomodulatory formula is associated in the ESPEN guidelines with a reduction in wound healing problems, suture failure, and infectious and global complications. Several authors have suggested that, since most clinical trials evaluating the efficacy of immunonutrition have been carried out in a traditional perioperative setting, it would be interesting to investigate its efficacy in a more controlled setting, such as in the ERAS (Enhanced Recovery after Surgery) protocol. The objective of this work was: a) to define the role that immunonutrition should play in ERAS protocols based on the best scientific evidence available; b) to analyze the difficulties that continue to exist in real-life clinical practice to screen the nutritional risk of patients; c) to make a proposal of algorithms adapted to the characteristics of our environment regarding the screening, assessment, and nutritional treatment of surgical patients in fast-track surgery. (AU)

[de la evidencia y algoritmo adaptado Immunonutrition in fast-track surgical patients - Evidence review and adapted algorithm]. / Inmunonutrición del paciente quirúrgico en los procedimientos fast-track: revisión de la evidencia y algoritmo adaptado.

INTRODUCTION: Surgical stress predisposes patients to have immune dysfunction and an increased risk of infection. Malnourished surgical patients have higher postoperative morbidity and mortality rates, higher readmission rates, and higher hospital costs. The use of an immunomodulatory formula is associated in the ESPEN guidelines with a reduction in wound healing problems, suture failure, and infectious and global complications. Several authors have suggested that, since most clinical trials evaluating the efficacy of immunonutrition have been carried out in a traditional perioperative setting, it would be interesting to investigate its efficacy in a more controlled setting, such as in the ERAS (Enhanced Recovery after Surgery) protocol. The objective of this work was: a) to define the role that immunonutrition should play in ERAS protocols based on the best scientific evidence available; b) to analyze the difficulties that continue to exist in real-life clinical practice to screen the nutritional risk of patients; c) to make a proposal of algorithms adapted to the characteristics of our environment regarding the screening, assessment, and nutritional treatment of surgical patients in fast-track surgery.

INTRODUCCIÓN: El estrés quirúrgico predispone a los pacientes a la disfunción inmune y a un mayor riesgo de infección. Los pacientes quirúrgicos desnutridos presentan una mayor morbimortalidad posoperatoria, mayores tasas de reingreso y costes hospitalarios más elevados. En las guías de la ESPEN se asocia el uso de una fórmula inmunomoduladora a una reducción significativa de los problemas de la cicatrización de heridas, de los fallos de la sutura y de las complicaciones infecciosas y globales. Varios autores han sugerido que, dado que la mayoría de los ensayos clínicos que evalúan la eficacia de la inmunonutrición se han realizado en un entorno perioperatorio tradicional, sería interesante investigar su eficacia en un entorno más controlado, como en el protocolo ERAS (Enhanced Recovery after Surgery). El objetivo de este trabajo es: a) definir el papel que debe jugar la inmunonutrición en los protocolos ERAS sobre la base de la mejor evidencia científica; b) analizar las dificultades que siguen existiendo en la práctica clínica real para realizar el cribado del riesgo nutricional del paciente; c) proponer unos algoritmos adaptados a las características de nuestro entorno sobre el cribado, la valoración y el tratamiento nutricional del paciente quirúrgico en modalidad fast-track.

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

Antecedentes y objetivos: La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1. Material y métodos: Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura. Recomendaciones: Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares. Conclusión: La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares

Background and objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. Material and methods: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. Recommendations: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. Conclusion: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Trimetilaminuria: el síndrome de olor a pescado / Trimethylaminuria: fish odor syndrome

La trimetilaminuria primaria o síndrome de olor a pescado es un error innato del metabolismo, debido al defecto en la oxidación hepática de la trimetilamina (TMA) a trimetilamina N-óxido (TMANO). La TMA procede del metabolismo de precursores dietéticos como colina, carnitina y TMANO. Su excreción en cantidades anormales en la orina, el sudor, el aire espirado y el resto de secreciones corporales despide un fuerte olor que recuerda al pescado podrido. Los pacientes afectos generalmente desarrollan graves problemas psicosociales. Presentamos un caso de trimetilaminuria primaria, con el fin de contribuir al conocimiento de este trastorno (AU)

Primary trimethylaminuria, or fish odor syndrome, is a congenital metabolic disorder characterized by a failure in the hepatic trimethylamine (TMA) oxidation route to trimethylamine N-oxide (TMANO). TMA is mostly derived from dietary precursors such as choline, carnitine and TMANO. The presence of abnormal amounts of TMA in the urine, sweat, exhaled air and other body secretions confers a very unpleasant body odor resembling that of decaying fish. As a consequence, patients can suffer from serious psychosocial sequelae. We present a case of primary trimethylaminuria with the aim of raising awareness about this condition (AU)

[Effect of abdominal obesity on size of myocardial infarction]. / Impacto de la obesidad central en la extensión del área de necrosis miocárdica.

OBJECTIVE: Metabolic syndrome consists of a group of factors that predict the risk of having an acute cardiovascular event. Some of these factors increase the risk of myocardial infarction and are also associated with the severity of cardiovascular events. The objective was to determine the influence of factors associated with metabolic syndrome, and especially abdominal obesity, on the size of coronary events, estimated by the concentration of total creatine phosphokinase (CPK) and CPK-MB isoenzyme (CPK-MB). SUBJECTS AND METHOD: We performed a cross-sectional study of 40 men diagnosed with acute coronary syndrome. We collected clinical data (age, history of diabetes, dyslipidemia and hypertension ) and anthropometric data [body mass index (BMI), waist circumference (WC) and waist-to-height ratio (WHR)]. CPK and CPK-MB concentrations were measured to determine the maximum concentration reached in order to estimate the size of the myocardial infarction area. RESULTS: The prevalence of metabolic syndrome was 30%. Approximately 84% of the patients were overweight and 42% had abdominal obesity. A positive association was found between myocardial enzymes and anthropometric parameters (BMI, WC, WHR). The variable showing the closest association with the size of myocardial infarction was central obesity [total CPK, r (Pearson) = 0.47; p<0.003] and (CPK-MB, r= 0.4; p<0.01). Metabolic syndrome was not a predictive factor for the size of myocardial necrosis (beta=-0.29; p<0.1). Multiple regression analysis showed that WC predicted maximal total CPK (beta=37.15; 95% CI, 9.16-65.15; p<0.01) and CPK-MB concentrations (beta=5.7; 95% CI, -0.4-11.9; p< 0.06) after an acute coronary event. CONCLUSIONS: The presence of abdominal obesity was associated with greater myocardial necrosis size after an acute coronary event.

Impacto de la obesidad central en la extensión del área de necrosis miocárdica / Effect of abdominal obesity on size of myocardial infarction

Objetivo: El síndrome metabólico (SM) se conforma de un grupo de factores predictivos de padecer un síndrome coronario agudo (SCA).Algunos de estos factores no sólo aumentan el riesgo de padecer enfermedad cardiovascular, sino que, una vez producido el evento coronario, se asocian a mayor gravedad del SCA. El objetivo del estudio es determinar la influencia de los componentes del SM, y en especial de la obesidad central, en la gravedad del SCA, estimada según la concentración de creatincinasa (CK) y la isoenzima MB (CK-MB).Sujetos y método: Estudio analítico transversal realizado en 40 varones diagnosticados de SCA. Se recogieron datos clínicos (edad, antecedentes de diabetes, dislipemia e hipertensión), y antropométricos (peso, talla, índice de masa corporal [IMC], circunferencia de la cintura [CC], índice cintura-talla [ICT]). Se determinó la presencia de SM según criterios de la ATPIII. Las concentraciones de CK total y de CK-MB fueron determinadas hasta alcanzarse el pico máximo, con el fin de estimar el tamaño del área de necrosis miocárdica. Resultados: La prevalencia de SM fue del 30%. Un 84% de los pacientes presentaban sobrepeso, con predominio abdominal en el 42%. Se observó una asociación positiva entre las concentraciones de enzimas cardiacas y las medidas antropométricas (IMC, CC e ICT). La variable que presentó mayor asociación con la extensión del infarto fue la CC (r de Pearson = 0,47; p < 0,003) para la CK total y (r = 0,4; p < 0,01) para la CK-MB. Padecer SM no fue predictor del tamaño del área infartada(β = –0,29; p < 0,1). La regresión múltiple demostró que la CC predice la concentración máxima de CK total (β = 37,15; IC del 95%, 9,16-65,15;p < 0,01) y CK-MB (β = 5,7; IC del 95%, –0,4-11,9; p < 0,06) tras un SCA. Conclusiones: La obesidad central se asocia a mayor extensión del área de necrosis miocárdica en pacientes con SCA (AU)

Objective: Metabolic syndrome consists of a group of factors that predict the risk of having an acute cardiovascular event. Some of these factors increase the risk of myocardial infarction and are also associated with the severity of cardiovascular events. The objective was to determine the influence of factors associated with metabolic syndrome, and especially abdominal obesity, on the size of coronary events, estimated by the concentration of total creatine phosphokinase (CPK) and CPK-MB isoenzyme (CPK-MB).Subjects and method: We performed across-sectional study of 40 men diagnosed with acute coronary syndrome. We collected clinical data (age, history of diabetes, dyslipidemia and hypertension ) and anthropometric data [body mass index(BMI), waist circumference (WC) and waist to-height ratio (WHR)]. CPK and CPK-MB concentrations were measured to determine the maximum concentration reached in order to estimate the size of the myocardial infarction area. Results: The prevalence of metabolic syndrome was 30%. Approximately 84% of the patients were overweight and 42% had abdominal obesity. A positive association was found between myocardial enzymes and anthropometric parameters (BMI, WC,WHR). The variable showing the closest association with the size of myocardial infarction was central obesity [total CPK, r (Pearson) = 0.47; p < 0.003] and (CPK-MB,r = 0.4; p < 0.01). Metabolic syndrome was not a predictive factor for the size of myocardial necrosis (β = –0.29; p < 0.1).Multiple regression analysis showed that WC predicted maximal total CPK (β = 37.15;95% CI, 9.16-65.15; p < 0.01) and CPK-MB concentrations (β = 5.7; 95% CI, –0.4-11.9;p < 0.06) after an acute coronary event. Conclusions: The presence of abdominal obesity was associated with greater myocardial necrosis size after an acute coronary event (AU)

Hipercalcemia hipocalciúrica familiar: a propósito de tres casos en una misma familia / Familial hypocalciuric hypercalcemia: review of three cases

La hipercalcemia hipocalciúrica familiar, también denominada hipercalcemia benigna familiar, es una causa poco frecuente de hipercalcemia. Se debe a una mutación del receptor sensible al calcio que se hereda de forma autosómica dominante con alta penetrancia. En general, los pacientes no presentan síntomas y los casos heterocigotos se diagnostican en la infancia o en la edad adulta al estudiar una hipercalcemia detectada de forma incidental. Se caracteriza por hipercalcemia moderada, con paratirina normal o levemente elevada y calciuria baja. Es importante establecer el diagnóstico por su benignidad y porque es una situación que no requiere tratamiento quirúrgico, a diferencia del hiperparatiroidismo que precisa paratiroidectomía en el50% de los casos. Presentamos 3 casos pertenecientes a la misma familia con hipercalcemia hipocalciúrica familiar y a continuación se realiza una revisión actualizada del tema (AU)

Familial hypocalciuric hypercalcemia, also denominated familial benign hypercalcemia, is an uncommon cause of hypercalcemia. It is caused by mutations of the calcium-sensing receptor, which are inherited in an autosomal dominant highpenetrance fashion. Generally, patients are asymptomatic, and heterozygote cases arediagnosed in childhood or adulthood, when diagnostic work-up of an incidentally discovered hypercalcemia ensues. This disorder is characterized by moderate hypercalcemia, with normal parathormone levels and low urine calcium excretion. It is very important to diagnose this condition, as it does not require surgical procedures, unlike primary hyperparathyroidism, which needs parathyroidectomy in 50% of cases. We present 3 cases of familial hypocalciuric hypercalcemia belonging to the same family, and provide an updated review on the topic (AU)

Mielolipoma adrenal gigante: revisión a propósito de un caso / Giant adrenal myelolipoma: case report and literature review

El mielolipoma adrenal es un tumor benigno, poco frecuente, compuesto por tejido adiposo maduro y elementos hematopoyéticos diversos. Su hallazgo suele ser incidental, aunque en ocasiones pueden alcanzar gran tamaño y causar dolor abdominal y otros síntomas clínicos. La ecografía y la tomografía computarizada son herramientas útiles en su diagnóstico. Los tumores pequeños (< 6 cm) y asintomáticos pueden tratarse de forma conservadora con vigilancia periódica y los > 6 cm o con síntomas pueden precisar tratamiento quirúrgico. Presentamos un caso de mielolipoma adrenal gigante y a continuación se realiza una revisión de la literatura (AU)

Adrenal myelolipomas are rare benign tumors comprising mature adipose tissue and diverse hematopoietic elements. These neoplasms are usually incidental findings, although bulky masses can generate abdominal pain as well as other symptoms related to compression of adjacent organs. Diagnosis is usually provided by ultrasonography or computed tomography. Asymptomatic patients with tumors with a maximum diameter of less than 6 cm can benefit from periodic surveillance, whereas local compression symptoms and size larger than 6 cm are indications for surgical treatment. We present a case of giant adrenal myelolipoma (..) (AU)

Xantogranuloma de silla turca / Sellar xanthogranuloma

Se trata de una paciente de 16 años con antecedentes de pubertad precoz idiopática con imagen hipofisaria normal. Diez años después y en relación con el agravamiento de los episodios de cefalea de Horton, se realizó una nueva resonancia magnética craneal, en la que se objetivó una lesión sospechosa de sangrado intrahipofisario. Fue tratada con corticoides, que mejoraron la cefalea pero ocasionaron una complicación grave, la psicosis por esteroides. La decisión de tratamiento quirúrgico y el estudio anatomopatológico de la lesión llevaron al diagnóstico diferencial entre craneofaringioma y xantogranuloma de silla turca. La evolución de la lesión (ausente 10 años antes), la indemnidad de la funcionalidad hormonal y visual, la resección total (muy difícil cuando se trata de craneofaringiomas) y la ausencia de recidiva hacen que el diagnóstico de xantogranuloma de silla turca sea prácticamente seguro Objetivo: Conocer el proceso de adaptación a la diabetes mellitus tipo 1 (DM1) y analizar su correspondencia con las etapas del proceso de duelo descritas por Kübler-Ross. Sujetos y método: Estudio etnográfico mediante entrevistas en profundidad a 20 pacientes, 10 familiares y 12 profesionales (6 médicos y 6 enfermeras). Para el análisis se siguió el esquema de análisis de datos cualitativos de Miles y Huberman. Resultados: El paciente diagnosticado de DM1 y su familia afrontan la pérdida del estilo de vida y los objetos reales o imaginarios de su vida pasada. Enfermos y familiares experimentan reacciones emocionales que, en algún caso, pueden asemejarse a las etapas de duelo descritas por Kübler-Ross en una enfermedad terminal (negación, rebeldía, negociación, depresión y aceptación), pero hay diferencias que dependen de factores personales y psicosociales. Los profesionales tienden a relacionar la mala adherencia con la negación de la enfermedad, pero algunos pacientes se sienten amenazados por las exigencias de tratamiento y control y por sus consecuencias en su calidad de vida, y conscientemente optan por no seguir las recomendaciones. Es más realista hablar de adaptación a la enfermedad que de aceptación, puesto que los procesos de pérdida son constantes y el enfermo debe reconstruir nuevas identidades según su estado. El proceso de duelo afecta también a la familia y puede ser diferente que el del enfermo en tiempo, intensidad y valoración de los problemas. Conclusiones: La adaptación es un proceso complejo en el que intervienen muchas variables. Se observan diferencias en los mecanismos que utiliza cada sujeto en particular. Los profesionales sanitarios y, particularmente la enfermera, deben considerar las múltiples dimensiones psicosociales de la enfermedad crónica (AU)

We report the case of a 16-year-old girl with a history of idiopathic precocious puberty and normal results on pituitary imaging scan. Ten years later, a new cranial magnetic resonance imaging scan was performed due to worsening of episodes resembling Horton's headache and a lesion suggestive of pituitary bleeding was detected. The headaches diminished with glucocorticoid administration but a severe complication, steroid psychosis, occurred. Surgical treatment and pathological study of the lesion led to the differential diagnosis between craniopharyngyoma and xanthogranuloma of the sella turcica. The clinical progression of the tumor (not visualized 10 years previously), together with preservation of pituitary and visual function both before and after surgery, gross total removal of the tumor (difficult to achieve with craniopharyngioma) and the absence of recurrence provide strong support for the diagnosis of xanthogranuloma of the sella turcica (AU)

Sellar xanthogranuloma.

We report the case of a 16-year-old girl with a history of idiopathic precocious puberty and normal results on pituitary imaging scan. Ten years later, a new cranial magnetic resonance imaging scan was performed due to worsening of episodes resembling Horton's headache and a lesion suggestive of pituitary bleeding was detected. The headaches diminished with glucocorticoid administration but a severe complication, steroid psychosis, occurred. Surgical treatment and pathological study of the lesion led to the differential diagnosis between craniopharyngyoma and xanthogranuloma of the sella turcica. The clinical progression of the tumor (not visualized 10 years previously), together with preservation of pituitary and visual function both before and after surgery, gross total removal of the tumor (difficult to achieve with craniopharyngioma) and the absence of recurrence provide strong support for the diagnosis of xanthogranuloma of the sella turcica.

Familial hypocalciuric hypercalcemia: review of three cases.

Familial hypocalciuric hypercalcemia, also denominated familial benign hypercalcemia, is an uncommon cause of hypercalcemia. It is caused by mutations of the calcium-sensing receptor, which are inherited in an autosomal dominant high-penetrance fashion. Generally, patients are asymptomatic, and heterozygote cases are diagnosed in childhood or adulthood, when diagnostic work-up of an incidentally discovered hypercalcemia ensues. This disorder is characterized by moderate hypercalcemia, with normal parathormone levels and low urine calcium excretion. It is very important to diagnose this condition, as it does not require surgical procedures, unlike primary hyperparathyroidism, which needs parathyroidectomy in 50% of cases. We present 3 cases of familial hypocalciuric hypercalcemia belonging to the same family, and provide an updated review on the topic.

Giant adrenal myelolipoma: case report and literature review.

Adrenal myelolipomas are rare benign tumors comprising mature adipose tissue and diverse hematopoietic elements. These neoplasms are usually incidental findings, although bulky masses can generate abdominal pain as well as other symptoms related to compression of adjacent organs. Diagnosis is usually provided by ultrasonography or computed tomography. Asymptomatic patients with tumors with a maximum diameter of less than 6cm can benefit from periodic surveillance, whereas local compression symptoms and size larger than 6cm are indications for surgical treatment. We present a case of giant adrenal myelolipoma and provide a review of the literature.

Un lugar extraño para un lipoma: lipoma supraselar / A strange place for a lipoma: suprasellar lipoma

Los lipomas supraselares son lesiones muy poco frecuentes. Se cree que derivan de una persistencia anormal y mal diferenciada de la meninge primitiva. Su diagnóstico es generalmente incidental, ya que la mayoría son asintomáticos. Sin embargo, a veces dan lugar a síntomas neurológicos, como cefalea, crisis epilépticas o incluso disfunción hipofisaria. La imagen radiológica permite el diagnóstico. El manejo conservador parece ser el tratamiento de elección. La cirugía únicamente estaría recomendada para los pacientes que no responden al tratamiento médico. Presentamos el caso de una mujer de 30 años a quien se estaba estudiando por cefaleas. En una tomografía computarizada que se le realizó, se encontró una imagen indicativa de lipoma supraselar. A propósito de este caso, hemos revisado el origen, el diagnóstico y el tratamiento de estos raros tumores (AU)

Suprasellar lipomas are uncommon lesions. They are thought to be derived from the abnormal and poorly differentiated persistence of primitive meninx. These tumors are usually diagnosed incidentally, since most are asymptomatic. However, these masses sometimes produce neurological symptoms, such as headache, epileptic seizures, and even pineal malfunction. Diagnosis is given by radiological imaging. The treatment of choice appears to be conservative management. Surgery should only be recommended in patients who do not respond to medical management. We present the case of a 30-year-old woman who was being investigated because of headache; a computed tomography scan revealed an image suggestive of suprasellar lipoma. Apropos of this case, we review the origin, diagnosis and treatment of theses rare tumors (AU)

Pubertad precoz verdadera secundaria a masa supraselar: probable histiocitosis X / Central precocious puberty with inflammatory suprasellar mass: probable histiocytosis x

La pubertad precoz central se debe a la activación prematura del generador de pulsos de gonadotropinas del eje hipotálamo-hipofisariogonadal. En la mayoría de los casos se desconoce la etiología, pero siempre se debe descartar afecciones del sistema nervioso central, como tumores, radioterapia craneal, traumatismos craneoencefálicos y procesos inflamatorios como la histiocitosis X. En la histiocitosis X la afección hipotálamo-hipofisaria es muy frecuente, y la manifestación más común es la diabetes insípida. Presentamos el caso de una niña con pubertad precoz central secundaria a masa supraselar inflamatoria, probablemente, histiocitosis X (AU)

Central precocious puberty is due to premature activation of gonadotropin pulse generator in the hypothalamuspituitary- gonadal axis. The etiology isknown in most cases, but tumors, cranial radiotherapy, traumatic brain injury and inflammatory disorders, such as histiocytosis X, are important options to be considered in the differential diagnosis. Hypothalamic-pituitary involvement is common in histiocytosis X, and in these cases diabetes insipidus is the most common endocrine deficiency at presentation. We report the case of a girl with an inflammatory suprasellar mass, probably histiocytosis X, who presented with central precocious puberty (AU)

Tiroides ectópico / Ectopic thyroid tissue

El tiroides ectópico es una alteración congénita infrecuente, consecuencia de la migración defectuosa del tiroides desde el agujero ciego (foramen caecum) hasta su posición final pretraqueal. La localización más frecuente del tejido tiroideo ectópico es lingual y sublingual. En la mayoría de los casos el único tejido tiroideo que queda suele ser ectópico. Puede serasintomático o con clínica variable. Presentamos 2 casos de tiroides ectópicos (sublingual y precricoideo). Los 2 casos asociaban hipofunción tiroidea y síntomas locales. Revisamos la clínica y el manejo diagnóstico y terapéutico (AU)

Ectopic thyroid tissue is a rare abnormality caused by the failure of the thyroid gland to migrate from the foramen cecum to its final pretracheal position. The mostfrequent sites of ectopic thyroid tissue are lingual and sublingual. In most patients, the ectopic tissue is the only source of functioning thyroid. Ectopic thyroid maybe asymptomatic or may produce variable symptoms. We describe 2 cases of ectopic thyroid (sublingual and precricoidal). Both patients had hypothyroidism and localsymptoms. We review the clinical features, diagnosis and treatment of this entity (AU)

Seudoquiste adrenal gigante: a propósito de un caso / Giant adrenal pseudocyst: a case report

Los seudoquistes adrenales son las lesiones quísticas más frecuentes de la glándula suprarrenal, si bien constituyen una entidad rara. Suelen ser asintomáticas, pero pueden producir clínica inespecífica como dolor abdominal o lumbar. Se recomienda tratamiento quirúrgico si son sintomáticos o se sospecha malignidad. Presentamos un caso de un seudoquiste adrenal hemorrágico gigante con un antecedente de traumatismo como posible etiología (AU)

Although rare, adrenal pseudocysts are the most common cystic masses occurring in the adrenal gland. These lesions are usually asymptomatic, although they can produce nonspecific symptoms such as abdominal or lumbar pain. Surgical treatment is warranted only when adrenal pseudocysts are symptomatic or show imaging features suspicious for malignancy. We present a case of a giant hemorrhagic adrenal pseudocyst, possibly related to previous local trauma (AU)