Abstract Introduction: For many years, uric acid was considered to be an inert product of purine metabolism; however, it has recently been associated with a number of chronic diseases. Nowadays, there are no conclusive findings available regarding a clear action plan to treat serum uric acid or which specific therapeutic goals it would have. Methods: Given this controversy, a survey was conducted in order to evaluate which decisions are taken regarding this situation within the Argentinian medical community. The question was in which cases serum uric acid was routinely assessed and the result was 53.2% no matter the pathology; 11,5% of physicians did not assess it routinely. Regarding its treatment, 62.5% of them reported to have treated it as part of kidney disease; 61.7 % as part of diabetes; 60.4% as part of metabolic syndrome; 50.3% as part of cardiovascular disease; 91.3 % as part of gout; 74% as part of renal stones, and 36.1% as part of joint pain. Results: The data collected by means of the survey show a lack of evidence for establishing the patient selection criteria when evaluating levels of serum uric acid and its treatment. Conclusions: Therefore, it is concluded that it is necessary to conduct prospective and randomized studies of conditions with a high incidence of elevated uricemia in order to develop guidelines for specialists according to results; this decision should not be based on experts’ opinion alone.

Resumen Introducción: Durante muchos años el ácido úrico se ha considerado como un producto metabólico inerte del metabolismo de las purinas, sin embargo, ha sido recientemente asociado a una serie de estados de enfermedad crónica. No hay hallazgos concluyentes disponibles en la actualidad para tomar una conducta activa clara respecto al tratamiento de ácido úrico sérico, y cuál sería su objetivo terapéutico. Material y métodos: Debido a esta controversia, se decidió llevar a cabo una encuesta para evaluar cuáles son las decisiones que se toman en este contexto, en el ámbito médico de la Argentina. Se consultó en qué pacientes se evaluaba en forma rutinaria el ácido úrico sérico, resultando en un 53.2% de todos los pacientes, sin diferenciar patologías, y un 11.5% refirió que no lo realiza rutinariamente. Con respecto al tratamiento sólo refirieron tratarlo con enfermedad renal un 62.5%; con diabetes 61.7%; con síndrome metabólico 60.4%; con enfermedad cardiovascular un 50.3%; con gota, cálculos renales o dolor articular, un 91.3%, 74% y 36.1% respectivamente. Resultados: Los datos de la encuesta confirman la falta de evidencia en el criterio para la selección de pacientes, a los fines de evaluar los niveles de ácido úrico sérico y su tratamiento. Conclusiones: De esta forma, se concluye que prima la necesidad de realizar estudios prospectivos y randomizados de las patologías con alta incidencia de uricemia elevada, para poder determinar normativas que orienten una conducta a los especialistas según los resultados obtenidos, y que dicha decisión no esté basada solo en la opinión de los expertos.

Alterações lipídicas em adolescentes de peso adequado Introdução. As concentrações séricas de colesterol de lipoproteínas de baixa densidade (LDL-c) e colesterol de lipoproteínas de alta densidade (HDL-c) são geralmente utilizadas para determinar o risco aterogênico. Estudos diferentes tanto em adultos como em crianças mostraram o valor prognóstico superior da apolipoproteína B, colesterol não HDL e relações específicas de variáveis de lipoproteínas, tais como triglicerídeos/HDL-c, LDL-c/HDL-c e colesterol/HDL-c. Objetivos. Determine os perfis lipídicos, lipoproteicos e apolipoproteicos e sua associação com indicadores antropométricos em uma população jovem. Materiais e métodos. Foram avaliados 429 meninas e 514 meninos, entre 11 e 14 anos de idade. Foram determinadas medidas antropométricas, pressão sanguínea, índice de massa corporal (IMC) e relação cintura/altura. Foram analisados: glicemia, colesterol total, LDL-c, triglicerídeos, apolipoproteína B. Foram calculadas taxas de triglicerídeos/HDL-c e colesterol não HDL. Resultados. Os meninos tiveram maior peso, maior IMC, maior circunferência da cintura, maior pressão arterial sistólica e diastólica em comparação com as meninas. Observou-se uma correlação positiva entre a circunferência da cintura e o IMC com colesterol total e lipoproteínas com taxas diferentes em meninos; no entanto, só as meninas a circunferência da cintura foi associado com níveis de lipoproteínas. Apenas 70% dos adolescentes tiveram um perfil lipídico dentro dos parâmetros de normalidade e o LDL-c e os níveis de colesterol não HDL. O HDL-c diminuiu em 35% dos homens e 45% das mulheres, sendo a anormalidade mais freqüente encontrada. Conclusões. Mostramos uma alta prevalência de níveis indesejáveis de lipídios e lipoproteínas em adolescentes com peso normal. Este estudo enfatiza a necessidade de reconhecimento precoce e intervenção para hiperlipidemia em populações pediátricas para prevenir doenças cardiovasculares em adultos.

Lipidic alterations in adolescents of adequate weight Background. Serum concentration of low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) are usually used to determine atherogenic risk. Different studies in adults as well as in children have shown the superior prognostic value of apolipoprotein B, non HDL- cholesterol and specific ratios of lipoprotein variables, such as triglycerides/ HDL-c, LDL-c/ HDL-c and cholesterol/HDL-c. Aims. Determine lipid, lipoprotein and apolipoprotein profiles and its association with anthropometric indicators in a young population. Materials and methods. Four hundred twenty nine girls and 514 boys, between 11 and 14 years old were evaluated. Anthropometric measures, blood pressure, body mass index (BMI) and waist/height ratio were determined. Blood glucose, total cholesterol, LDL-c, triglycerides, apolipoprotein B were analyzed. Triglycerides/HDL-c ratio and non HDL-c were calculated. Results. Males had higher weight, BMI, waist circumference and blood pressure, both systolic and diastolic than girls. We observed positive correlations between waist circumference and BMI with total cholesterol and different lipoprotein ratios in males, however in female only waist circumference was associated with lipoprotein ratios. Only seventy percent of the adolescents presented normal lipid profile as well as LDL and non HDL-c levels. HDL-c was decreased in 35% of males and 45% of females, being the most frequent abnormality found. Conclusions. We showed a high prevalence of undesirable lipid and lipoprotein levels in normal weight adolescents. This study emphasizes the need for early recognition and intervention for hyperlipidemia in pediatric populations to prevent cardiovascular disease in adults.

Introducción. Las concentraciones de c-LDL (low-density lipoprotein cholesterol) y de c-HDL (high-density lipoprotein cholesterol) se utilizan generalmente para determinar el riesgo aterogénico. Los diferentes estudios, tanto en adultos como en niños, demuestran el valor pronóstico superior de la apolipoproteina B, colesterol no HDL e índices específicos de las lipoproteínas (triglicéridos/c-HDL, c-LDL/c-HDL, colesterol total/c-HDL). Objetivo. Determinar el perfil lipídico, las lipoproteínas y los perfiles de apolipoproteínas y su asociación con los indicadores antropométricos en la población joven. Materiales y métodos. Fueron evaluados 429 niñas y 514 varones, entre 11 y 14 años. Se determinaron las medidas antropométricas, la presión arterial, el índice de masa corporal (IMC) y la relación entre cintura y talla. Fueron analizados: glucemia, colesterol total, c-LDL, triglicéridos y apolipoproteína B. Se calcularon las relaciones entre triglicéridos y c-HDL y el colesterol no HDL. Resultados. Los varones tuvieron mayor peso, mayor IMC, mayor circunferencia de cintura, mayor presión arterial sistólica y diastólica, en comparación a las niñas. Observamos una correlación positiva entre la circunferencia de cintura y el IMC con el colesterol total y con distintos índices de lipoproteínas en varones; sin embargo, en las niñas únicamente la circunferencia de cintura se asoció con los índices de lipoproteínas. Solo el 70% de los adolescentes tuvieron un perfil lipídico dentro de los parámetros de normalidad, así como el c-LDL y los niveles de colesterol no HDL. El c-HDL se encontró disminuido en un 35% de los varones y en un 45% de las mujeres, anormalidad más frecuentemente hallada. Conclusiones. Demostramos que existe una alta prevalencia de niveles no deseables de lípidos y de lipoproteínas en adolescentes con peso adecuado. Este estudio enfatiza la necesidad de un reconocimiento y de una intervención precoz de la dislipemia en la población pediátrica para prevenir la enfermedad cardiovascular en la etapa adulta.

Non-alcoholic fatty liver disease (NAFLD) includes a spectrum of liver diseases ranging from steatosis to steatohepatitis, fibrosis and cirrhosis. Its prevalence increases with age and with obesity, and is strongly associated with the presence of metabolic syndrome and increased cardiovascular and malignant diseases. It is caused by an accumulation of triglycerides in liver hepatocytes and muscles, and related to insulin resistance. Its presence is associated with the increase of alanine aminotransferase (alt), although it may not be elevated in advanced disease. There are 5 indexes used for the diagnosis of hepatic steatosis: SteatoTest, fatty liver index, NAFLD liver fat score, lipid accumulation product and hepatic steatosis index, whereas for esteatohepatitis the NASH test, NASH diagnostics, as well as the non-alcoholic steatohepatitis (NASH) score and HAIR (hypertension, ALT, and insulin resistance). In stages of fibrosis AST-ALT index increases as well as ferritin in blood and the NAFLD fibrosis score, which has a high specificity for diagnosis. Abdominal ultrasound is widely available, but its diagnostic sensitivity is lower when there are mild degrees of hepatic fatty infiltration. Computed tomography has a specificity of 100% when fat content is greater than 30%, but the radiation emitted prevents frequent use. Magnetic resonance spectroscopy is the method of choice for the detection and quantification of liver fat content. Liver biopsy is an invasive method that enables appropriate prognostic classification of the disease, but has some complications, and should only be performed in selected individuals: high risk of steatohepatitis or fibrosis risk of laboratory or clinical or other co-existing liver disease. Early identification of NAFLD allows early measures to be implemented in order to reduce morbidity and mortality associated with this condition.

La enfermedad hepática grasa no alcohólica comprende un espectro de afecciones hepáticas que va desde la simple esteatosis a la esteatohepatitis, fibrosis y hasta cirrosis. Su prevalencia aumenta con la edad, la obesidad y está fuertemente asociada con la presencia de síndrome metabólico y aumento de la mortalidad cardiovascular y por enfermedades malignas. Se produce por una acumulación de triglicéridos en los hepatocitos relacionada con insulinorresistencia hepática y muscular. Su presencia se asocia con aumento de transaminasa glutámico-oxaloacética o glutamico-pirúvica, aunque esta última puede no estar elevada en la enfermedad avanzada. Existen 5 índices utilizados para el diagnóstico de esteatosis hepática: SteatoTest, fatty liver index, NAFLD liver fat score, lipid acumulation product y hepatic steatosis index, mientras que para esteatohepatitis contamos con el NASH test, NASH diagnostics, NASH score y HAIR (Hypertention, increased ALT and IR o Insulin resistence). En estadios de fibrosis el índice transaminasa glutamicooxáloacetica-glutamicopiruvica aumenta, así como la ferritina en sangre y el valor del NAFLD fibrosis score, siendo de alta especificidad para el diagnóstico. La ecografía abdominal tiene una gran disponibilidad, pero su sensibilidad diagnóstica es menor cuando existen grados leves de infiltración grasa hepática. La tomografía computada tiene una especificidad del 100% cuando el contenido graso es mayor al 30% pero la radiación emitida no permite un uso frecuente. La resonancia magnética con espectroscopia constituye el método de elección para la detección y cuantificación de contenido de grasa hepática. La biopsia hepática es un método invasivo que permite una clasificación pronóstica adecuada de la enfermedad, pero por sus complicaciones solo debe realizarse en pacientes seleccionados: aquellos con riesgo elevado de esteatohepatitis o riesgo de fibrosis por laboratorio o clínica, o con otras enfermedades hepáticas coexistentes. La identificación temprana de enfermedad hepática grasa no alcohólica permite la implementación de medidas tempranas para disminuir la morbimortalidad asociada a esta condición.

SUMMARY Paraneoplastic syndromes are a heterogeneous group of malignant diseases caused by events which involve endocrine, immune and metabolic aspects and whose symptoms vary according to the substance produced and the primary tumor. Hypercalcemia is a frequent complication in cancer patients. Prognosis of cancer patients with hypercalcemia is usually poor. A factor called parathyroid hormone related peptide, whose actions are similar to those of the parathyroid hormone, is thought to be the most common cause of malignancy associated hypercalcemia. Non-islet hypoglycemic cell tumor consists of a rare syndrome characterized by the presence of a solid tumor and severe fasting hypoglycemia determined by an insulin-independent pathway. We report a case of a 59-year-old-man with a renal tumor and a T-cell rich large B cell lymphoma who was hospitalized due to severe hypercalcemia and hypoglycemia. The laboratory examination reported hypercalcemia with inhibited PTH and hypoglycemia with inhibited insulin secretion, arriving to the conclusion of tumoral peptide production. He received denosumab and corticoid therapy. The patient died one month later despite initial improvement after medical treatment. While a single paraneoplastic manifestation may be expected in most tumors, the coexistence of two or more of them is rare, except in hepatocellular carcinomas, and it has not yet been described in renal tumors.

We report the case of a 75-year-old man who was admitted to the hospital with symptoms of severe hypoglycemia. He had a history of solitary fibrous tumor diagnosed by Pathology after its complete surgical resection eight years before. The laboratory examination reported hypoglycemia with inhibited Insulin secretion. A computed tomography of the thorax revealed a large solid heterogeneous mass in the left hemithorax. Solitary fibrous tumor is a rare neoplasm. The association of solitary fibrous tumor and paraneoplastic hypoglycemia is known as Doege-Potter syndrome and occurs in less than 5% of all solitary fibrous tumors.

Familial partial lipodystrophy (FPL) type 1 is a syndrome characterized by loss of subcutaneous fat in arms and legs and an excess of body fat in face, neck, and torso. This rare syndrome is usually diagnosed when patients present cardiovascular complications or pancreatitis due to the severe metabolic abnormalities. Here we present the case of a 45 year old diabetic female without any pathological family history, a poor glycemic control (HbA1c 11.7%), hypertriglideridemia (3000 mg/dl), a body mass index (BMI) of 38, thin limbs, subcutaneous fat loss in gluteal area and ledge of fat above them, prominent veins in lower extremities, moon face, and acanthosis nigricans; as well as hypertension (150/100 mmHg) and subcutaneous folds measuring less than average were observed. Hypercortisolism was discarded and leptin levels were measured (16.8 mg/ml, VR: BMI > 30: 50 mg/ml). Due to these clinical and biochemical manifestations, and low leptin levels (16.8 mg/ml), Kobberling syndrome was suspected; however, LMNA mutation analysis was negative. Changes in lifestyle and treatment with fenofibrate, biphasic insulin 50/50, and enalapril were initiated showing a a significant metabolic improvement: HbA1c (7.8%) and TG (243 mg/dl). FPL type 1 is a familial disease, although there are spontaneous cases. No specific mutation is responsible for this syndrome. Due to its clinical manifestations, Cushing syndrome must be discarded.

La lipodistrofia parcial familiar de tipo1 (LPF 1) es un síndrome caracterizado por la pérdida parcial de grasa subcutánea en extremidades con distribución incrementada de la misma en rostro, cuello y tronco. Es una identidad familiar aunque hay casos espontáneos. Hasta ahora no se conoce mutación responsable. Se debe realizar diagnóstico diferencial con el síndrome de Cushing. Es un síndrome poco frecuente y en oportunidades se llega al diagnóstico cuando los pacientes presentan complicaciones cardiovasculares o afectación pancreática como consecuencia de una grave alteración metabólica. Se presenta el caso de una paciente de 45 años con diabetes mellitus desde los 20 años de edad, mal control glucémico (HbA1c: 11.7%) e hipertrigliceridemia (TG: 3000 mg/dl), índice de masa corporal (IMC): 38, extremidades adelgazadas, pérdida de grasa subcutánea en glúteos, sobreelevación de pliegue por encima de los mismos, venas prominentes en miembros inferiores, cara de luna llena y marcada acantosis nigricans, hipertensión (TA: 150/100 mm Hg) y medidas de pliegues subcutáneos disminuidos. El dosaje de leptina fue 16.8 mg/ml. El estudio genético para gen LMNA fue negativo. Se instauraron medidas de cambio de estilo de vida, tratamiento con fenofibrato, insulina premezcla 50/50 y enalapril, obteniéndose una franca mejoría clínica, de la HbA1c (7.8%) y de los TG (243 mg/dl).

Adrenal carcinoma is a rare malignancy of poor prognosis. The most common clinical presentation is secondary to hormone production, while the development of symptomatic hypoglycemia is exceptional. We report the case of a 37 year old-woman admitted to hospital with severe hypoglycemia, hypertension, hypokalemia and amenorrhea. In the laboratory we found hypoglycemia, with low insulin levels, and androgen levels in tumor range. CT of abdomen and pelvis showed a heterogeneous lesion of solid appearance without a cleavage plane relative to liver parenchyma, and intense contrast enhancement. Retroperitoneal mass was removed, and the patient evolved without complications, blood glucose and potassium were normalized, blood pressure stabilized and menstrual cycles recovered.

El carcinoma suprarrenal es una neoplasia maligna infrecuente y de mal pronóstico. La presentación clínica más común es originada por la producción hormonal excesiva, mientras que el desarrollo de hipoglucemia sintomática es excepcional. Presentamos el caso de una mujer de 37 años que ingresó al hospital por síntomas de hipoglucemias graves, hipertensión arterial, hipopotasemia y amenorrea secundaria. En el laboratorio se halló hipoglucemia con insulina inhibida y niveles de andrógenos en rango tumoral. La tomografía computarizada (TC) de abdomen y pelvis mostró voluminosa formación heterogénea de aspecto sólido sin plano de clivaje con respecto al parénquima hepático e intenso realce con contraste. Luego de la extirpación de la masa retroperitoneal, evolucionó con valores de glucemia y potasemia normales, estabilizó la presión arterial y recuperó los ciclos menstruales.

El índice Triglicéridos/HDL- colesterol (TG/HDL) es un recurso de fácil determinación y con buena correlación con el índice HOMA en adultos. Debido a la dificultad que representa la insulinorresistencia (IR) fisiológica de la adolescencia es necesario buscar marcadores de IR independientes de edad, sexo y estadio puberal. El objetivo fue determinar valores de referencia para el índice TG/HDL en una población de adolescentes sin factores de riesgo cardiovascular (CV) Se evaluaron 943 adolescentes, 429 mujeres y 514 varones, entre 11 y 14 años. Se determinaron medidas antropométricas y se calculó índice de masa corporal (IMC). Se realizó extracción de sangre luego de 12 horas de ayuno para determinar glucemia, triglicéridos, HDL. El síndrome metabólico (SM) fue diagnosticado según criterios de NCEP/ ATP III modificado por Cook. Se excluyeron los adolescentes con SM y aquellos con algún carácter del mismo. Ingresaron 562 adolescentes (289 mujeres y 273 hombres). Presentaban un peso de 48.91 ± 6.51kg; IMC de 18.95 ± 1.78, tensión arterial sistólica de 108.12 ± 13.60 mmHg, tensión arterial diastólica 63.82± 9.43 y perímetro de cintura 65.09± 4.54cm; Índice TG/HDL fue de 1.25± 0.43, con un percentilo 95 de 2.05. En el adulto el índice TG/HDL superior a 3 es un marcador de insulinorresistencia. Consideramos que un valor mayor a 2.05 podría ser un buen índice de insulinorresistencia en la adolescencia. El índice TG/HDL tiene la ventaja de ser metodológicamente más sencillo, más económico e independiente de la etapa puberal.

Triglicéridos/HDL- cholesterol ratio: in adolescents without cardiovascular risk factors. Triglicéridos/ HDL- cholesterol ratio (TG / HDL) is an easy resource determination and it has good correlation with the HOMA index in adults. Due to physiological insulin resistance (IR) in adolescence it is necessary to find markers of IR independent of age, sex and pubertal stage. The objective was to identify reference values of TG / HDL ratio in a population of adolescents without cardiovascular risk factors. We evaluated 943 adolescents, 429 females and 514 males between 11 and 14. Anthropometric measures were determined and body mass index was calculated (BMI). Blood was extracted after 12 hours of fasting to determine glucose, triglycerides, HDL. The metabolic syndrome (MS) was diagnosed according to criteria of NCEP / ATP III modified by Cook. We excluded adolescents with MS or any component of it. We evaluated 562 adolescents (289 women and 273 men) with a weight of 48.91 ± 6.51kg, BMI :18.95 ± 1.78, systolic blood pressure of 108.12 ± 13.60 mmHg, diastolic blood pressure: 63.82 ± 9.43 and waist circumference: 65.09 ± 4.54cm. TG / HDL ratio was 1.25 ± 0.43, with a 95 percentile of 2.05. In adults, TG / HDL ratio greater than 3 is a marker of insulin resistance. We believe that a higher value to 2.05 might be a good index of insulin resistance in adolescence. TG / HDL ratio has the advantage of being methodologically simpler, more economical and independent of pubertal stage.