[Immature ovarian tumour and dilated myocardiopathy]. / Teratoma inmaduro de ovario y miocardiopatía dilatada.

Asymptomatic 2 month-old infant referred for evaluation of a hard abdominal mass on the left side. The ultrasound examination showed a solid-cystic tumour above the left kidney. The alpha-fetoprotein level was 2000ng/ml. The meta-iodobenzylguanidine (123-I-MIBG) showed no tumour uptake. At 48h, she showed signs of hypovolemic shock. The chest X-ray showed cardiomegaly with a cardiothoracic ratio of 0.7 and pulmonary congestion. The echocardiogram showed a dilated left ventricle with ejection fraction 35-40%. Anaemia, hypertension, hypervolemia and hyper-secretion of catecholamines were ruled out. The virology and metabolic screens were normal. The highly vascularised retroperitoneal tumour was resected without incident and confirmed the diagnosis of an immature Norris grade 2 teratoma grade. At 3 months the outcome was satisfactory. Teratomas are rare tumours in childhood that generally have a benign course. Dilated cardiomyopathy (DCM) secondary to, chromaffin cell tumours (phaeochromocytoma, neuroblastoma, ganglioneuroblastoma), leukaemia infiltrates, and treatment with anthracyclines have been described, but there is no case reported in the literature regarding a teratoma with dilated cardiomyopathy. Various cytokines, such as INF-α, IL-1, IL-6 may be secreted by tumour, promoting fibroblast activity in the heart and inducing apoptosis and myocardial fibrosis. Thus, in the case presented resection of the tumour mass responsible for this production, enables the heart to return to normal.

[Primary cardiac tumours in infancy]. / Tumores cardíacos primarios en la infancia.

INTRODUCTION: Primary cardiac tumours are very rare in the paediatric age, their incidence varies from 0.0017 % to 0.28 %. More than 90 % are benign in nature. The most common variety is the rhabdomyoma, present in over 60 % of cases with tuberous sclerosis. MATERIAL AND METHODS: We performed a retrospective analysis of medical records with a diagnosis of primary cardiac tumor between March 1977 and March 2007, finding a total of 27 patients. RESULTS: The age of initial diagnosis is more prevalent in the neonatal period, beginning with the discovery of a heart murmur (11 cases). There was no difference in gender distribution. In 14 patients were found cardiomegaly on chest radiograph. According to the echocardiography characteristics there were diagnosed 20 rhabdomyomas, 2 fibromas, 2 pericardial teratomas and 3 non classifiable tumours. Most were located in the left ventricle. Echocardiography, cardiac catheterization was also performed in 3 cases and angioresonance in 5 cases. During their evolution, episodes of arrhythmias were observed in 11 patients, 5 patients required some sort of surgical procedure, which confirmed the histopathology diagnosis. In 3 patients the initial cause of death was cardiological. The 75 % of cases with rhabdomyomas presented or developed tuberous sclerosis. In most of the rhabdomyomas (13 cases), there was a spontaneous regression. CONCLUSIONS: Firstly, there is shown to be a low prevalence of this disorder in children. Rhabdomyoma is the most common primary cardiac tumour in our study and it was associated in 75 % of cases with tuberous sclerosis. The diagnosis is more common in the early neonatal period after auscultation of a cardiac murmur and echocardiography, the diagnostic technique of choice, other imaging techniques, such as angioMRI not being of much for diagnosis in children. The emergence of foetal echocardiography allows early detection. The course is benign in most tumours, rhabdomyomas tending to regress spontaneously. It must be monitored as the occurrence of arrhythmias during its evolution will require medical treatment. Surgery is needed in cases with severe symptoms, due to obstruction in the ventricular output tracts. One option is the surgical cardiac transplant in non-resectable life-threatening tumours.

Genetic and environmental factors affecting menarcheal age in Spanish women.

Genetic and environmental contributions to menarcheal age were studied in 267 Spanish girls and women born between 1948 and 1981, and their mothers born between 1922 and 1959 (n = 200). Recalled age at menarche, as well as family environment characteristics (family size, birth order, father's occupation and father's educational level) were obtained from each woman. Mean age at menarche in mothers (13.45 years; SD = 1.51) was significantly (p < 0.01) greater than in daughters (13.03 +/- 1.28 years). Year of birth and family size accounted for a significant amount of the variation in age at menarche in both mothers and daughters, whereas occupation of the father only appeared related to menarcheal age in the mothers subsample. Birth order and father's educational level did not contribute significantly to the age at menarche. The mother-daughter and sister-sister correlations (maximum likelihood estimates) for age at menarche were 0.30 and 0.35, respectively (both significant at p < 0.001). This supports the genetic and environmental contribution to the age at menarche, even though the influence of environmental variables may change over time.

Body composition of rural and urban children from the central region of Spain.

Body composition components are considered in a cross-sectional sample of 2564 children (age range 6-14 years) from Central Spain. The sample was divided depending on rural or urban residence. Weight, and skinfold at the triceps, biceps, subscapular and suprailiac site were measured. Body composition was represented by percentage fat (%F), lean body mass (LBM), fat mass (FM) and sum of skinfolds (SSK). Sex differences were found to be highly significant for all variables and rural-urban differences were small. Rural boys show slightly larger fat content, in %F, FM and SSK, than their urban peers, but significant (p < 0.05) differences appear only for SSK. No statistically significant environmental effect was found for LBM. The improvement of living conditions, the urban influence on the rural area and the degree of urbanization of the urban settlement are suggested as the main determinants influencing obtained results.

Genetic and environmental influences on somatotype components: family study in a Spanish population.

Parent-offspring, sibling, and spouse resemblances for Heath-Carter somatotype components were assessed in 261 nuclear families from the Madrid, Spain, area. Each phenotype was adjusted for the effect of (1) age and sex and (2) family environment variables and age and sex by means of multiple regression. Age and sex explained a significant (p < 0.001) proportion of observed variation, but in no case did the addition of family environment variables appreciably alter the amount of variance accounted for by age and sex. Familial correlations were estimated by maximum-likelihood procedures for each somatotype component after adjusting for age, sex, and the other two somatotype components. Furthermore, several hypotheses regarding sex-specific and generational differences among correlations were assessed for each phenotype. No spouse resemblance was found for somatotype components. Significant parent-offspring and sibling correlations point out consistent familial aggregation for somatotype components, especially for mesomorphy. Familial correlations for mesomorphy were significantly (p < 0.05) influenced by the sex of parents (offspring were more similar to their mothers than to their fathers) and to a lesser extent (0.05 < p < 0.10) by the sex of the offspring. The sex of siblings did not significantly alter sib correlations for any of the somatotype components studied.

Heritabilities of morphological and body composition characteristics in a Spanish population.

Different estimates of heritability are presented for a set of anthropometric characteristics taken in 844 individuals from 261 families living in the Madrid city area (Spain). The data include measurements of 10 craniofacial, 11 body skeletal (4 lengths and 7 breadths), and 13 fat-related characteristics (weight, 3 circumferences, 6 skinfold thicknesses, body mass index and arm fat and arm muscle areas). The estimates computed from parent and offspring data show a clear defined pattern (higher heritabilities for longitudinal traits, followed by breadths, circumferences, and skinfolds, respectively). Heritabilities estimated from sib-sib correlation do not show such pattern and are generally higher than those assessed through parent-offspring data, mainly for fat related traits, which is attributed to common environment effects.

Assortative mating in a Spanish population: effects of social factors and cohabitation time.

Assortative mating for 22 anthropometric and body composition characteristics and social indicators was studied in a Spanish sample of 114 married couples. Significant spousal similarity was found for occupation, educational level and number of siblings. Sex-age adjusted spouse correlations were significant for stature, ileospinal height, total arm length, and biacromial breadth. Spouse correlations were not altered after allowance for socioeconomic effects. When couples were grouped according to marriage duration, differences in mate correlations for fatness were detected, suggesting a cohabitational effect on spouse resemblance.