[Genetic analysis of RET mutations in families with multiple endocrine neoplasia type II in the community of Murcia]. / Análisis genético de las mutaciones de RET en las familias con neoplasia endocrina múltiple tipo 2 de la Comunidad de Murcia.

BACKGROUND: Multiple endocrine neoplasia type 2 (MEN 2) syndromes are inherited following an autosomal dominant pattern. RET protooncogen mutations have been associated with MEN 2. The identification of these mutations enables us to diagnose MEN 2. The objectives were to recognize RET mutations and gene carriers in the area of Murcia and to sep up the relationship between genotype and phenotype. PATIENTS AND METHODS: 284 subjects from 14 MEN 2A kindreds and one MEN 2B family from the Community of Murcia, Spain, were studied. 48 out of them had MEN 2 tumours and 236 subjects were at risk. The initial screening test was single-strand conformation polymorphism (SSCP) in 8 MEN 2A families and denaturing gradient gel electrophoresis (DGGE) in 6 MEN 2A families; the results in all the subjects were confirmed with restriction analysis. The MEN 2A family in which the Cfo-I enzyme detected but did not specify the type of mutation received DNA sequence assay. The MEN 2B kindred was studied with restriction analysis. RESULTS: TGC-->TAC and TGC-->CGC mutations of codon 634 were found in 13 and one MEN 2A kindreds, respectively. ATG-->ACG mutation of codon 918 was present in the MEN 2B family. Clinical diagnosis was confirmed in the 48 patients, 44 new gene carriers were detected and 192 carriers of normal alleles were ruled out. The incidence of hyperparathyroidism was highest if RET mutation was TGC-->CGC. CONCLUSIONS: Community of Murcia is one of the areas with the highest prevalence of MEN 2. The risk of hyperparathyroidism is increased if TGC-->CGC is present.

[Effect of obesity on the morphology of the left ventricle]. / Influencia de la obesidad sobre la morfología del ventrículo izquierdo.

BACKGROUND: To analyze the relationship between obesity in its different degrees and the left ventricle morphology. PATIENTS AND METHODS: M-mode echocardiography was used to estimate the mass, wall thickness and internal dimension of left ventricle in 48 obese women with different degrees of obesity, defined according to the body mass index. 25 women with normal weight were used as controls. RESULTS: The body mass index was correlated with left ventricular mass, as well as with both the wall thickness of the left ventricle and its diastolic internal dimension. The abnormalities in the heart morphology increased according to the obesity degree, ranging from a 59% in the lesser obesity group up to a 100% in the more obese women. The incidence of the left ventricular hypertrophy determined by echocardiography also increased along with the body mass index, ranging from a 29% in the lesser degree of obesity women up to an 82% in the patients with a body mass index > 35 kg/m2. CONCLUSIONS: Obesity, even in its lowest degrees, shows frequent alterations in the heart morphology. This is related with a left ventricular mass increase and a higher incidence of the left ventricular hypertrophy. The left ventricular mass increase is due to an increase in the left ventricular walls thickness and also to a dilatation of its cavity.

[Anthropometric study of the school population of the autonomic community of Murcia]. / Estudio antropométrico de la poblacíon escolar de la Comunidad Autónoma de Murcia.

BACKGROUND: The aim of this study was to know the anthropometric study of school children in Murcia in order to obtain parameters of present reference for our country and region. METHODS: A transversal study of the school population of the community of Murcia at Preschool, EGB, BUP and Technical School levels was carried out including 1,930 children between the ages of 4 and 17. These children were selected from a total of 242,596 proportionally chosen with respect to demography of each of the twelve regions in the area with weight, height and bicipital, tricipital, subscapular and abdominal skin folds being measured. RESULTS: The values obtained and classified by age, sex and regions of the autonomic community of Murcia exposed in tables, demonstrate the differences existing in all the parameters measured with those routinely used at an international and national level. CONCLUSIONS: The differences found clearly justify the need to compare the regional antropometric alterations with the "reference parameters" obtained in Spain and Murcia for which other studies concerning the same would be advisable.