Angiomixoma agresivo pélvico: diagnóstico en un examen de salud periódico de una trabajadora expuesta a radiaciones ionizantes / Agressive angiomyxom of the pelvis: diagnosis in an annual health examination of a worker exposed to ionizing radiation

El angiomixoma agresivo (AA) fue descrito por Steeper y Rosai en 1983 para definir una neoplasia mesenquimal mixoide de crecimiento lento localizada en la región pélvica, genital y/o perineal. Se tratan de tumores benignos, poco frecuentes, infiltrativos localmente, raramente metastatizantes y muy recidivantes. La prevalencia mujer/hombre es de 6:1, siendo más frecuente en la edad fértil por estar relacionada con los niveles hormonales de estrógenos y progesterona. Clínicamente el AA cursa con sintomatología inespecífica y variable en relación al tamaño tumoral y a su crecimiento lento, de ahí la importancia de realizar un diagnóstico diferencial precoz tanto macroscópico como microscópico. El diagnóstico se basa en pruebas de imagen (Resonancia Magnética, Tomografía Computarizada), histológicas e inmunohistoquímicas, siendo estas determinantes a la hora de la exéresis completa tumoral, tratamiento de elección en estos casos, al no haber sido demostrada la eficacia de otras terapias como la radio o quimioterapia

Aggressive angiomyxoma (AA) was described in 1983 by Steeper y Rosai as a myxoid mesenchymal neoplasm of the pelvic, genital and/or perineal region with slow growth. The AA is an uncommon and benign neoplasm, although it is a locally aggressive neoplasm. It is rarely metastasize and shows a high rate of recurrence. The prevalence rate female/male is 6:1, with a higher frequency in the childbearing age due to its relation with oestrogen and progesterone levels. The clinical symptoms of the AA are several and non-specific. Those symptoms are related to the size and the slow growth of the tumours. For this reason it is extremely important to do an early macroscopic and microscopic differential diagnosis. The specific diagnosis of this tumour is based on imaging test (CTscan, MRI), as well as an histopathological and immunohistochemical study, which are critical to carry out a complete surgical resection of the tumour, which is the main treatment in this case. There are no evidences of the successful of radiotherapy and chemotherapy

Hemocromatosis: diagnóstico casual en un examen de salud periódico de un trabajador / Haemochromatosis casual diagnosis in a worker sanual health exam

Trabajador de nuestro centro de trabajo que al realizarle una analítica de control se objetiva hipertransaminemia y alteración del perfil férrico, (elevación de ferritina y del IST con valores de hierro dentro de la normalidad), entre otras alteraciones analíticas. Se le realiza una Ecografía abdominalcompatible con esteatosis hepática grado II/III y esplenomegalia, una serología para virus de Hepatitis A, B y C y un estudio genético para hemocromatosis, confirmándose el diagnóstico de Hemocromatosis hereditaria al encontrar la mutación del gen HFE con la mutación C282Y. La hemocromatosis hereditaria es una enfermedad sistémica caracterizada por sobrecarga de hierro que se deposita en numerosos órganos, como el hígado, páncreas, corazón, glándulas endocrinas, piel y articulaciones, por un aumento de la absorción intestinal del mismo, debido a la mutación del gen HFE. La mayoríade los pacientes son asintomáticos, relacionándose la aparición de manifestaciones clínicas (cirrosis hepática, diabetes mellitas, cardiopatía, artropatía) con el daño orgánico. El diagnóstico incluye estudios fenotípicos (ferritinae índice de saturación de transferrina), genotípicos (gen HFE homocigosis para la mutación C282Y) y biopsia hepática. El tratamiento de elección es la realización de flebotomías tempranas, evitando el daño orgánico y de esta manera determinando un buen pronóstico y una supervivencia igual a la dela población sana (AU)

After a control laboratory analysis, a worker from our work center shows hypertransaminasemia and altered ferric profile (ferritin levels and the transferrin satutarion index) were increased, with iron levels within the normal range), as well as other laboratory abnormalities. He underwent an abdominal ultrasound compatible with hepatic steatosis grade II/III and splenomegaly, serology for hepatitis A, B and C virus and genetic testing for haemachromatosis, confirming the hereditary haemachromatosis diagnosis by the detection of the mutation C282Y of the gene HFE. Hereditary haemachromatosis is a systemic disease characterized by iron overload deposited in several organs like liver, pancreas, heart, endocrine glands, skin and joints, and an increased intestinal absorption of iron as a result of a mutation in the HFE gene. Most of patients are asymptomatic, correlating the appearance of clinical manifestations (cirrhosis, diabetes mellitus, cardiomyopathy, joint disease) with organic damage.The diagnosis includes phenotypic testing (ferritin and transferring saturation values), genetic testing (HFE gene homozygous for the C282Y mutation) and liver biopsy. The treatment of choice is the early phlebotomy, avoiding the organ damage and getting a good prognosis and the same survival as healthy population (AU)

Evaluación de las tendencias temporales en las variables antropométricas y lipídicas en niños de 12 a 15 años de edad. Estudio Cuatro Provincias en niños de edad puberal / Analysis of temporal trends of anthropometric and lipid variables in 12- to 15-year-old children. The Four Provinces Study in pubertal children

Introducción Las diferencias entre sexos en la incidencia de enfermedad cardiovascular se han asociado con un diferente perfil lipídico en hombres y mujeres, relacionado con cambios en las hormonas sexuales a lo largo de la vida. La pubertad es el periodo del desarrollo en el que empieza a manifestarse la influencia de estas hormonas sobre el perfil lipídico. Por ello, en nuestro estudio, hemos analizado la relación de los niveles de testosterona, estradiol y sex hormone binding globulin (SHBG, ‘globulina transportadora de hormonas sexuales’) con los cambios en las variables antropométricas y lipídicas que tienen lugar en la pubertad.Métodos La población de nuestro estudio la constituyen 370 escolares sanos (175 varones y 195 mujeres) de edades comprendidas entre 12–15 años. Los niveles plasmáticos de lípidos se determinaron mediante métodos estandarizados. Los niveles de testosterona y estradiol fueron determinados mediante radioimmuno ensayo y los niveles de SHBG mediante ensayo immunoradiométrico. Resultado sEn niños, importantes aumentos del peso y la altura a lo largo del periodo puberal se acompañaron de un aumento significativo de la testosterona y un descenso de la SHBG. El cHDL fue significativamente más bajo en varones de 15 años que en los más jóvenes y la apo A-I disminuyó progresivamente en función de la edad. En niñas, no se observaron diferencias significativas. En niños, el cHDL y la apo A-I correlacionaron negativamente con la testosterona y positivamente con la SHBG. La correlación entre apo A-I y SHBG continuó significativa (p<0,001) después de ajustar por el IMC. Conclusiones El importante descenso de los niveles de cHDL y apo A-I observado durante la pubertad en los varones de nuestro estudio se relaciona no solo con el aumento de los niveles de testosterona, sino también con la bajada de los niveles de SHBG, apoyando el papel de la SHBG en dicho descenso (AU)

Introduction Sex-related differences in the prevalence of coronary heart disease have been associated to different lipid profiles in men and women, related to changes in sex hormones throughout life. Puberty is a period of development in which the influence of sex hormones on the lipid profile is starting to take place. Thus, we aimed to analyze the relationship between sex hormones (testosterone, oestradiol and SHBG (sex hormone binding globulin)) and changes in anthropometric variables and plasma lipid levels during puberty. Methods Our population-based sample included 370 healthy pubertal children (175 males and 195 females), ranging from 12–15 years old. Plasma lipid levels were measured by standarized methods. Testosterone and oestradiol levels were determined by RIA and SHBG levels were determined by IRMA. Results In boys, significant increases in weight and height across the period were accompanied by an increase in testosterone and a decrease in SHBG levels. HDL-cholesterol levels were significantly lower in 15-year-old than in younger boys and apo A-I levels steeply decreased across the studied age groups. No significant changes were observed in girls. In boys, HDL-cholesterol and apo A-I levels correlated negatively with testosterone and positively with SHBG. Apo A-I levels remained significantly (p<0.001) correlated to SHBG after adjusting for BMI. Conclusions The significant decrease in HDL-cholesterol and apo A-I levels observed during puberty in boys in our study seemed to be related to both testosterone and SHBG levels, supporting the role of SHBG on this decrease of HDL-cholesterol levels occurring during puberty in boys (AU)

Leptin and adiponectin levels in pubertal children: relationship with anthropometric variables and body composition.

BACKGROUND: Adipocytokines play an important role in controlling energy homeostasis, and in various metabolic processes related to obesity. The aim of this study was to describe serum leptin and adiponectin concentrations in a sample of pubertal Spanish children and to evaluate their association with anthropometric parameters and body composition. METHODS: The study included 833 pubertal boys and girls. Serum leptin and adiponectin concentrations were determined by ELISA. RESULTS: Leptin concentrations were significantly higher (p<0.0001) in obese or overweight (OW) children compared with children with normal weight (NW). Adiponectin was significantly lower (p<0.01) in obese or OW girls compared with girls of NW, although these findings were not the same for boys. Weight, body mass index (BMI), waist circumference (WC), hip circumference (HC), and waist to hip ratio were significantly correlated (p<0.01) with leptin concentrations in both genders. Correlation of leptin with fat mass and % fat mass was strong, particularly in boys. The association of adiponectin concentrations with anthropometric variables was weaker in both genders. No significant correlations were found between adiponectin concentrations and fat mass or % fat mass. CONCLUSIONS: In summary, our study showed that, in pubertal children, leptin is related to weight, BMI, WC and HC and correlates even more strongly with % fat mass. However, adiponectin was weakly related to anthropometric variables and was not correlated with body fat.

Sex hormone-binding globulin and lipid profile in pubertal children.

Men and women have different lipid profiles throughout life, related to changes in sex hormones; and this has been associated with sex-related differences in the prevalence of coronary heart disease. The influence of sex hormone changes during puberty on the lipid profile has been reported, but levels of sex hormone-binding globulin (SHBG) (the specific plasma binding protein of sex hormones) have not been evaluated even though its regulatory role might be crucial. The aim of this study was to analyze the relationship between sex hormones and SHBG and changes in plasma lipid levels during puberty. Our population-based sample included 370 healthy schoolchildren (175 male and 195 female), ranging from 12 to 15 years old. High-density lipoprotein cholesterol (HDL-C) levels were significantly lower in 15-year-olds than in younger boys, and apolipoprotein (apo) A-I levels steeply decreased across the studied age groups. Parallel to these changes, testosterone levels increased whereas SHBG decreased as age increases in boys. In girls, no significant differences were observed in these variables among the age groups. Testosterone and SHBG were highly correlated with anthropometric variables. Sex hormone-binding globulin was negatively associated with triglycerides (TG) in both sexes, remaining statistically significant after further adjustment for age and body mass index (BMI) in girls. Sex hormone-binding globulin was the only predictive variable for HDL-C and TG in multiple linear regression analysis, after adjustment by BMI, in both sexes, accounting for 10% of the variance of HDL-C in boys and for around 5% of the variance of TG in both sexes. In boys, testosterone and SHBG remained significantly correlated to apo A-I levels, even after adjusting for age and BMI, and were the most important predictive variables for apo A-I in multiple linear regression analysis. In conclusion, SHBG levels are related to a decrease in HDL-C and apo A-I levels during puberty in boys and to a decrease in TG levels during puberty in both sexes.

Sex hormone-binding globulin levels and metabolic syndrome and its features in adolescents.

BACKGROUND: Low levels of sex hormone-binding globulin (SHBG) are associated with obesity, insulin resistance, and metabolic syndrome (MS) in men and women, and it has been suggested that SHBG could be a useful marker for MS risk. OBJECTIVE: The aim of this study was to analyze the relationship of SHBG levels with MS and its components in Spanish adolescents. METHODS: The sample population of this cross-sectional study was comprised of 386 male and 429 female adolescents, aged 12-16 yr. Anthropometric parameters and blood pressure (BP) were measured. Total cholesterol, high-density lipoprotein (HDL)-cholesterol, insulin, glucose, and SHBG levels were determined. The pediatric International Diabetes Federation (IDF) definition was used to classify adolescents for MS. RESULTS: SHBG levels were lower in adolescents with MS or with some MS features. More than 90% of the abdominally obese adolescents were in the lowest and medium SHBG tertiles. In girls, BP was significantly higher in the lowest SHBG tertile than in the two others, whereas in boys BP levels were significantly higher in the lowest and medium tertiles than in the highest one. Insulin levels and homeostasis model assessment (HOMA) index were also significantly higher in the lowest SHBG tertile than in the two others. CONCLUSIONS: The associations of SHBG with MS and its components, such as abdominal obesity, high BP or insulin levels, are already present in normal adolescents. This may suggest the possibility of using SHBG levels as a biomarker for MS risk in adolescents as well as adults.

Fat intake influences the effect of the hepatic lipase C-514T polymorphism on HDL-cholesterol levels in children.

Polymorphisms in the hepatic lipase gene have been associated with variability in plasma HDL-C concentrations, but contradictory results have been reported regarding the effect of diet on this association in adults. In our study, we examined whether dietary fat intake modified the association between lipid levels and the C-514T polymorphism in the hepatic lipase gene (LIPC C-514T) in prepubescent children. The LIPC C-514T polymorphism was determined by PCR and restriction analysis in 1260 healthy school children, aged 6-8. Information on the children's nutrient intake was obtained by means of a validated food frequency questionnaire. We found that regardless of gender, carriers of the minor allele had significantly higher apo A-I levels compared to noncarrier subjects. The effect of the polymorphism, however, was modified by dietary fat intake. In boys, the presence of the LIPC C-514T polymorphism was associated with significantly higher HDL-C among children within the highest tertiles of total, saturated, monounsaturated, or polyunsaturated fat intake. Apo A-I levels were significantly higher in carriers of the LIPC C-514T polymorphism, but only among boys who consumed high total as well as monounsaturated fat and among girls who consumed high total, saturated, monounsaturated, and polyunsaturated fat. Our data show that dietary fat intake modifies the effect of the LIPC C-514T polymorphism on plasma HDL-C and apo A-I levels in prepubescent children, being associated with higher levels of HDL-C and apo A-I only when fat intake is high. This significant gene-nutrient interaction could help to explain inter-individual variations in the plasma lipid response to fat intake.

Genetic determinants of plasma HDL-cholesterol levels in prepubertal children.

INTRODUCTION: Genetic determinants have been related to variation of high-density lipoprotein cholesterol (HDL-C) levels, but the extension of this association remains controversial. In our study, we analyzed the contribution of several polymorphisms on HDL-C-related genes to variation of plasma HDL-C in prepubertal children. METHODS: We studied 1269 (641 males and 628 females) 6-8 years old healthy children, who participated in a cross-sectional study examining cardiovascular risk factors in Spain. Common genetic variants in the apolipoprotein AI, apolipoprotein AII, cholesteryl ester transfer protein (CETP), hepatic lipase, ATP-binding cassette transporter A1, and paraoxonase genes were determined by PCR. RESULTS: CETP TaqI B2 carrier girls had significantly higher HDL-C levels than B1B1 girls. B2B2 boys had significantly higher (p<0.001) HDL-C than B1B1and B1B2 boys. In linear regression analysis, CETP TaqIB appears as the main predictor of HDL-C plasma levels, accounting for 4.5% and 1.8% of HDL-C variation in girls and boys respectively. CONCLUSIONS: Our data showed that among the studied polymorphisms only the CETP TaqIB polymorphism contributes to the variation in HDL-C levels in prepubertal children, particularly in girls, but overall these polymorphisms explain a small part of the variation of HDL-C plasma levels at this age.

High-density lipoprotein cholesterol and paraoxonase 1 (PON1) genetics and serum PON1 activity in prepubertal children in Spain.

BACKGROUND: Oxidative stress plays an important role in atherosclerosis. Paraoxonase 1 (PON1) is a high-density lipoprotein (HDL)-associated enzyme that inhibits low-density lipoprotein (LDL) oxidation and may play a protective role against coronary heart disease. The aim of this study was to analyze the relationship between HDL-cholesterol (HDL-C) and PON1 in a Spanish prepubertal population with high plasma HDL-C levels. METHODS: The study population included 1,266 children between the ages of 6 and 8 years. Serum PON1 activity was measured by the hydrolysis of paraoxon. PON1 192Q/R and PON1 55L/M polymorphisms were analyzed by PCR and restriction analysis. RESULTS: The prevalence of the less common PON1 192R and PON 55M alleles in this population was 30% and 38%, respectively. No significant correlations between serum PON1 activity and lipid profile were observed. Multiple linear regression analysis showed that the PON1 192Q/R polymorphism accounts for 69% of PON1 activity in the children in the study, with the PON1 55L/M polymorphism accounting for an additional 5% of this variation in boys, and for an additional 3% together with HDL-C concentration in girls. CONCLUSIONS: PON1 192Q/R polymorphism is the main determinant of PON1 activity in the prepubertal population in this study, accounting for around 70% of serum PON1 activity. HDL-C concentration has a small contribution to serum PON1 activity in girls.

Hormone levels in 12- to 15-year-old boys and girls in Spain and their relationship with anthropometric variables.

OBJECTIVE: To determine hormone levels in a population-based sample of pubertal children and evaluate their association with anthropometric parameters. METHODS: Sex steroid levels were assessed using RIA and IRMA. RESULTS: In boys, changes in weight and height across the period were accompanied by changes in testosterone and SHBG. In girls, anthropometric variables did not change and were not correlated with estradiol. CONCLUSIONS: We observed an association between hormone levels and anthropometric changes when active growth associated with puberty was taking place.

Análisis de la actividad paraoxonasa (PON1) y de los polimorfismos PON1 192 y PON1 55 en la población prepuberal del Estudio Cuatro Provincias / Serum paraoxonase activity and PON1 192 and PON1 55 polymorphisms in prepuberal children. The Four Provinces S

Introducción. La paraoxonasa 1 (PON1) es una éster hidrolasa presente en las lipoproteínas de alta densidad (HDL), relacionada con la eliminación de componentes oxidados de las lipoproteínas de baja densidad (LDL) y por ello con el riesgo cardiovascular. Nuestro estudio analiza la actividad PON1 y los polimorfismos 192 y 55 del gen PON1 en los niños de edad prepuberal integrantes del Estudio Cuatro Provincias. Métodos. La población de estudio la constituyen 1.275 niños de 6 a 8 años. La actividad PON1 en suero se determinó mediante la hidrólisis de paraoxon. Los polimorfismos genéticos PON1 192Q/R y PON1 55M/L se analizaron mediante amplificación por reacción en cadena de la polimerasa (PCR) y posterior análisis de restricción. Resultados. En nuestra población la frecuencia de los alelos PON192R y PON55M es del 30 y el 38%, respectivamente, sin diferencias significativas entre provincias. La actividad PON1 es más elevada en Orense y más baja en Murcia, tanto en la población total como para cada uno de los genotipos. En la provincia de Orense se observaron correlaciones significativas entre la actividad PON1 y los valores plasmáticos de colesterol total (CT), colesterol unido a HDL (cHDL) y apolipoproteína AI (apo AI). El análisis de regresión muestra que el polimorfismo PON1 192Q/R es el principal determinante de la actividad PON1 en nuestra población. Conclusiones. La frecuencia de los polimorfismos PON192 y PON55 no difiere significativamente entre provincias. Sin embargo, a pesar de que el polimorfismo PON192 es el principal determinante de la actividad PON1, Orense presenta la actividad PON1 más alta y Murcia la más baja, lo que sugiere que ya a esta edad existen factores que regulan esa actividad dentro de cada genotipo (AU)

Background. Paraoxonase (PON1) is an ester hydrolase related to the elimination of oxidized compounds of low-density lipoprotein (LDL) particles and therefore to cardiovascular risk. The aim of the present study was to analyze the relationship between serum PON1 activity and PON1 192 and 55 polymorphisms in the prepuberal children included in the Four Provinces Study. Methods. The study population included 1,275 children aged 6 to 8 years old. Serum PON1 activity was measured by paraoxon hydrolysis. PON1 192Q/R and PON1 55M/L polymorphisms were analyzed by polymerase chain reaction and restriction analysis. Results. In the population as a whole, the prevalence of the less common PON192R allele was 30% and that of the PON55M allele was 38%, without significant differences in the frequencies between provinces. PON1 activity was highest in Orense and lowest in Murcia, both in the group as a whole and within each genotype. In Orense, significant correlations between PON1 activity and plasma total cholesterol, high-density lipoprotein cholesterol and apolipoprotein AI levels were found. Regression analysis showed that the PON1 192Q/R polymorphism is the main determinant of PON1 activity in our population. Conclusions. No significant differences between provinces in the frequencies of the PON192 and PON55 polymorphisms were found. However, although the PON192 polymorphism is the main determinant of PON1 activity, Orense showed the highest activity and Murcia the lowest for all the genotypes, suggesting that already at this age some factors are regulating PON1 activity for each genotype (AU)

Dehydroepiandrosterone sulfate (DHEA-S) distribution in Spanish prepuberal children: relationship with fasting plasma insulin concentrations and insulin resistance.

BACKGROUND: The aim of this study was to analyze dehydroepiandrosterone sulfate (DHEA-S) levels in a population-based sample of Spanish prepuberal children and to investigate the relationship between DHEA-S and insulin. METHODS: 854 (440 boys and 414 girls) randomly selected prepuberal children were included in our study after a sampling. Children were 6 to 8 years old and were classified for the analysis in half-year intervals. DHEA-S and insulin levels were measured. RESULTS: DHEA-S levels increase significantly with age during prepuberty reaching the maximum level of DHEA-S for this period at 7.5 years old in girls and 8 years old in boys. Girls have significantly higher log DHEA-S levels than boys, except at the age of 8, where the levels are similar (median: 41.7 nmol/l girls and 41.1 nmol/l boys). DHEA-S correlates positively and significantly with weight, height, and BMI in all age intervals but the correlation between DHEA-S and insulin and HOMA is present only at the age of 6.5 in boys and 8 in girls. CONCLUSIONS: We report data about the distribution of DHEA-S in the Spanish prepuberal population. The maximum level of DHEA-S in this prepuberal period was reached before in girls than in boys, with girls having higher DHEA-S levels than boys until the end of this period. We found an important association between DHEA-S levels and weight, height and BMI but an inconsistent association of DHEA-S with insulin and HOMA.