[Evidence of heterogeneity in dyssegmental dysplasia]. / Evidencia de heterogeneidad en la displasia disegmentaria.

The dyssegmental dysplasia is a lethal form of neonatal short-limbed dwarfism in which unusual facies, short neck, narrow thorax, cleft palate, and reduced joint mobility are the characteristic commonly seen. Radiologically, vertebral segmentation defects and short, thick, bowed long bones are the prominent features. To date, 30 cases have been reported. Clinical, radiographic, and histologic examination of these cases of the literature demonstrates the presence of two distinct forms of dyssegmental dysplasia, the milder form (type Rolland-Desbuquois), characterized clinically by frequent survival beyond the newborn period and by distinct radiographic changes resembling Kniest dysplasia, and the severe form (type Silverman-Handmaker), characterized by stillbirth or death within the first few days of life and by distinct and more severe radiographic changes. In both types, reports of affected sibs suggest autosomal recessive inheritance.

[Bone maturation in obese Aragonese children of both sexes]. / Estudio de la maduración ósea en niños obesos aragoneses de ambos sexos.

OBJECTIVE: To analyze the relation between height and bone maturation in obese children in Aragón. MATERIAL AND METHODS: A group of 86 obese children (36 boys, 50 girls) was studied. Height, weight, cranial circumference, skinfold thickness, Quetelet's index, body fat percentage, total body fat and lean body mass were determined. Bone maturation was calculated according to the three variants of TW2-Aragón method. RESULTS: The patients showed an increase of bone maturation on the three system scores, independently of sex or sexual maturation stage; being the RCC score the most discriminative. Increase of bone maturation was significantly correlated with increase of height (p < 0.001). Regression analysis showed in boys and girls (prepubertal and pubertal) a high statistical significance between bone maturation and anthropometrics parameters estimating body fat (weight, skinfold thickness, total body fat and indices). CONCLUSIONS: The obese children of our study showed an increase of height (p < 0.001) in relation with increase of bone age. Increase of both, bone maturation and height, were significantly correlated with adiposity indices estimating body fat.

[Genetics of congenital adrenal hyperplasia caused by steroid-21-hydroxylase deficiency: present-day aspects]. / Genética de la hiperplasia congénita de las suprarrenales por déficit de la enzima 21-hidroxilasa: aspectos actuales.

Congenital adrenal hyperplasia caused by a deficiency of 21-hydroxylase is an inherited disorder of adrenal steroidogenesis. In this study, the deficiency incidence is presented according to different author's and countries' results. Nowadays knowledge concerning its genetics are reviewed, especially HLA linkage. Allelic variants of deficiency and the "linkage disequilibrium" with HLA complete antigens are described. Finally, the main applications of that knowledge are presented: heterozygote detection and prenatal diagnosis.

[Circadian rhythms of cortisol and insulin in nutritional obesity in children]. / Estudio de ritmos circadianos de cortisol e insulina en la obesidad nutricional infantil.

It have been studied 90 children (obese 73, non obese or control 17), trying to analyze the following parameters: mean and standard deviation values, its circadian rhythms and relation between cortisol and insulin, correlation between both hormones and anthropometric parameters of obesity and sexual influence with all the studied parameters. The plasmatic cortisol values were higher in male, obese (180.4 +/- 11.2 ng/ml) and control (377.5 +/- 49.2 ng/ml) children. The plasmatic insulin values higher in obese children (55.3 +/- 9.5 microU/ml) verifying the hyperinsulinemia observed in obesity. There was not correlation between cortisol and insulin values with body fat. All the children showed cortisol and insulin circadian rythm. In the groups of obese children the cortisol circadian rythm was similar to the control one. However, the insulin circadian rythm was disturb. So, the acrophase was delayed two hours when male and female were analyzed all together and only one hour in the obese female group. The acrophase of cortisol and insulin rhythms in obese group is delayed in relation with the degree of obesity. The circadian rhythms of cortisol and insulin, in both obese and control groups, are not dependent. The duration of obesity do not have any relation with the mentioned alterations.

[Dyslipoproteinemias and coronary disease. Genetic markers]. / Dislipoproteinemias y enfermedad coronaria. Marcadores genéticos.

Atherosclerosis and its consequences are a significant cause of death in industrialized countries. In recent years, due to modern techniques which permit DNA analysis, a series of alleles associated with dyslipoproteinemia and heart disease have been identified. In this study these genetic markers, in particular those found at the level of the genes of apolipoproteins, are reviewed. The knowledge of these facts is important for the paediatrician, since these disturbances can be identified in the first days of an individual's life, thus a positive influence can be made over the lifestyle habits.

[Determination of body fat by means of densitometry and anthropometry in children 6 to 10 years of age]. / Determinación de la grasa corporal mediante densitometría y antropometría en niños de siete a diez años.

The authors have studied the body composition in a group of 36 boys from 7 to 10 years old, through densitometry and anthropometry. They have found significant correlations between the percentage of fat, got by densitometry and some anthropometric indices: Quetelet index (r = 0.79), sum of 4 skinfolds (r = 0.78) and logarithm of the sum of 4 skinfolds (r = 0.80). After a multiple regression analysis, they got equations which permit you to calculate the percentage of fat, using several anthropometric parameters with a 10% of error. They bring two nomograms which facilitate the estimation of body fat. They compare the results obtained with the ones described by others authors and suggest the need to extend this study to boys with other ages as well as to girls.

[Behavior of insulin in children with constitutional short stature]. / Comportamiento de la insulina en niños con baja talla variante de la normalidad.

Secretion of insulin in a group of children with normal stature and without endocrine-metabolic (47 cases), versus another group with constitutional short stature (35 cases). Is study authors made a glucose tolerance test (1 g/kg) to both groups and they study the fisiologic secretion of insulin during 24 hours. It was observed that rates of insulin were similar after glucose tolerance test in both groups, but study of fisiologic secretion of insulin during 24 hours shows low rates of insulin in the group of constitutional short stature (p less than 0.005). The problem group rises higher rates of insulin after a glucose tolerance test than after the study of fisiologic secretion of insulin in 24 hours, but the other group shows similar answer in both tests.

[Physical activity and leisure time in children. I: Relation to socioeconomic status]. / Actividad física y ocio en jóvenes. I: Influencia del nivel socioeconómico.

OBJECTIVE: To assess physical activity and leisure time activities in relation to socioeconomic status. PATIENTS AND METHODS: We have studied 1,078 boys and girls from 24 schools from areas of different geographical and socioeconomical status. Physical activity and leisure time activities were assessed by a questionnaire. RESULTS: We have observed that adolescents spend more time watching T.V. than doing physical activity (p = 0.0001). In general, boys prefer strong physical activity. Children from the lowest socioeconomic families did less physical activity than children from the highest socioeconomic families (p < or = 0.05). In girls, those with the lowest socioeconomic status spent the greatest amount of time watching T.V. (p = 0.0001). CONCLUSIONS: From our results, we deduce that we must improve physical activity habits in children, especially in those from the lowest socioeconomic families.

[Physical activity and leisure time in children. II: Relationship with dietary habits]. / Actividad física y ocio en jóvenes. II: Relación con los hábitos dietéticos.

OBJECTIVE: To investigate the relationship between physical activity, leisure time activities and dietary habits in adolescents. PATIENTS AND METHODS: We have studied 541 girls and 537 boys from 24 schools. Physical activity, leisure time activities and dietary habits were assessed by 3 different questionnaires, taking into account one week of normal activity and diet. RESULTS: Foods such as milk, fish, meat, egg, fruits, vegetables, pasta and snacks were consumed more frequently in children who spent more time doing sport, but difference were not statistically significant. Boys who spent more time watching T.V. ate greater amounts of almost all foods (p < 0.05). In girls, we have observed the same results, but differences were not statistically significant. CONCLUSIONS: Sports and T.V. watching are both related to a greater amount of food intake From our results we can deduce that in order to prevent obesity, and other cardiovascular risk factors, we must improve food intake related with sedentary habits.

[Differences between morning and afternoon in the assessment of nutritional status by bioelectric impedance in children]. / Diferencias entre la mañana y la tarde en la valoración nutricional del niño mediante impedancia bioeléctrica.

OBJECTIVE: The aim of this study was to examine if there were differences in the assessment of the nutritional status between values of bioelectric impedance (BI) measured in the morning (08:30) and in the afternoon (17:00). PATIENTS AND METHODS: We have studied 30 boys between 6.5 and 10.9 years of age. Weight, stature, skinfold thickness and total body impedance (Z) were measured at 08:30 and at 17:00 on the same day. RESULTS: In 28 of 30 boys, Z at 17:00 was lower than Z at 08:30. The mean decrease in Z was 4.64% of the morning result (p = 0.0001). At 17:00 there was an increase in total body water (TBW) and fat-free mass (FFM) measured by BI, 0.681, and 0.93 Kg, respectively (p = 0.0001), compared with morning values. We did not find differences between skinfold thickness values in the morning and in the afternoon, except for the suprailiac skinfold, which was a bit larger in the afternoon (p = 0.05). In the morning and afternoon there was a high correlation between FFM measured by skinfold thickness and values of TBW and FFM measured by BI. CONCLUSIONS: Z in boys decrease in the afternoon (17:00) compared with morning values (08:30). This fact must be considered by the pediatrician when IB is used for the assessment of nutritional status in children.

[Body fat mass in boys and male adolescents]. / Masa grasa corporal en niños y adolescentes de sexo masculino.

OBJECTIVE: To describe the proportion of body fat mass, quantified from the measurement of 4 skinfold thickness, in a sample of male children of Zaragoza. METHODS: In 1995, we have studied 701 males aged 6.0 to 14.9 years, from 6 schools of the province of Zaragoza. We have measured: weight, height, and biceps, triceps, subscapular and suprailiac skinfold thicknesses. Body density has been calculated from the 4 skinfold measurements, with the formulas of Sarría et al. Fat mass (%), was calculated with the Weststrate and Deurenberg's formulas. In each age group, we present mean, standard deviation and 5, 25, 50, 75 and 95th percentiles. RESULTS: We present mean, standard deviation and 5, 25, 50, 75 and 95th percentiles of body fat mass (%), in each age group. Body fat mass (%) progressively increased until 10.5 years and, after, progressively decrease at least until 14.5 years. CONCLUSIONS: We present data of body fat mass (%), calculated from the measurement of 4 skinfold thicknesses, obtained from a reference population in the province of Zaragoza. These data are useful as more rationale criteria in the diagnosis of obesity in children and adolescents.

[Iliac horn syndrome. Apropos of a case and review of the literature]. / Síndrome de los cuernos ilíacos. A propósito de un caso y revisión de la literatura.

A case of "iliac horns" syndrome appears in a there month old baby girl, with alterations in the nails of the thumb and index fingers, which gave reason to suspect the existence of an associated osseous dysplasia. Diagnosis is confirmed with radiology, showing pathognomonic iliac horn of the syndrome. An extensive review is made of literature on this affection, extremely infrequent in infancy, establishing that this is the case involving the youngest age described to date. Interest in radiological study of minimal alterations in phenotype of the pediatric patient is emphasized.

[Osteoid osteoma in childhood: apropos of 6 cases]. / Osteoma osteoide en la infancia: a propósito de seis observaciones.

Six cases of children diagnosed as having osteoid osteoma with different localization are reviewed. They constitute 0.04% of all those admitted to the paediatrics department. The average age is 8 1/12 years and three exists a male predominance over the female in the proportion of 2/1. The clinic has shown it self through characteristic pain, with nocturnal paroxysms, which disappears with aspirin, in addition to functional impotence and muscular atrophy. In the case of vertebral localization, scoliosis was detected. Both, the radiography and the computerized axial tomography showed to be efficient for the diagnosis, which was confirmed anatomo-pathologically in the case operated on. The evolution was satisfactory in all of them.

[Atherogenic risk factors in children of parents with ischemic heart disease]. / Factores de riesgo aterogénico en hijos de padres con cardiopatía isquémica.

We have studied serum lipid levels and dietetic intake in 38 children whose parents had ischemic heart disease (HPCI) before 55 years of age and in a control group (n = 114). In the HPCI group, 25% had serum levels of total cholesterol higher than 200 mg/dl; only 2 children presented elevated levels of LDL and apo B. Dietetic intakes in both groups were similar, with a high protein (16-17% of calories) and fat (39-42% of calories) intake and a low carbohydrate intake (40.46% of calories). In both groups the percentage of monounsaturated fat was higher than other types of fat. The most frequent phenotype in the HPCI group was IIa (8 children). Only 1 child showed a IIb phenotype. This finding may be due to the variability of this phenotype in the same individual throughout life. In the families (n = 8), we have detected 2 families with polygenic hypercholesterolemia (HP), 2 others with familial combined hyperlipidemia (HFC) and 4 without family history of hyperlipidemia. Taking into account the lipid profile in children of the HPCI group, we have detected the presence of familial dysliproproteinemias. It appears that dietetic intake is not an atherogenic risk factor in these patients.

[Primary dyslipoproteinemias in a child-adolescent population of Aragón detected by two methods: selective search and targeted search]. / Dislipoproteinemias primarias en una población infanto-juvenil aragonesa detectadas mediante dos estrategias: búsqueda selectiva y búsqueda oportunista.

A series of 439 children (245 boys and 194 girls) ranged between 2.0 and 18.0 years of age have been studied January 1987 to April 1990. They belonged to four groups: I) 306 children (163 boys and 143 girls), "control group"; II) 31 children (22 boys and 9 girls) whose parents had some type of dyslipoproteinemia (HPDLP); III) 38 children (24 boys and 14 girls) whose fathers were survivors of myocardial infarction occurred before 55 years of age (HPCI); and IV) 43 children (23 boys and 20 girls) who had, at least in two occasions, more than three months of time separated between then, over 200 mg/dL of total serum cholesterol levels detected by opportunist search (HDC). For children's identification of risk factors to develop atherosclerotic disease during adult life, two different types of strategy has been utilised. One, "selective search", taking into account children of groups II (HPDLP) and III (HPCI). Other, "opportunist search", taking into consideration children of group IV (HDC). The most frequent primary dyslipoproteinemia between the families of children with high serum levels has been Polygenic Hypercholesterolemia (HP). In the second place were both Familial Hypercholesterolemia (HF) an Familial Combined Hyperlipidemia (HFC). A family with Mixed Hyperlipidemia (HM) was also identified. Familial aggregation, with relation to serum lipid levels, were detected in children of the three groups: HPDLP, HPCI and HDC, as it is reported by another authors. Our results suggest the genetic alterations may contribute to the presence of different types of dyslipoproteinemia in children.

[Plasma fatty acids in children with cystic fibrosis]. / Acidos grasos plasmáticos en niños con fibrosis quística.

A study of plasmatic fatty acids was carried out on a group of paediatric patients suffering from cystic fibrosis. These data have been compared with those obtained by others authors. High levels of saturated fatty acids and a reduction of polyunsaturates have been found. The ratio of eicosatrienoic acid to arachidonic acid is high in this group of patients, which indicates a certain lack of essential fatty acids.

[Solitary bone cyst in childhood: form of presentation and course in 13 cases]. / Quiste óseo esencial en la infancia: forma de presentación y evolución de 13 casos.

The authors describe 13 cases of solitary bone cyst in children of both sexes, ages 4 5/12 to 12 4/12 years. Ten patients were males. In eight cases the lesions were located in the humerus, three in the femur, one in the tibia and another in the phalanx of the foot. Pathological fracture was the most frequent initial symptom. The characteristic radiological image of the cyst allows the distinction of other bone lesions and is usually enough for the diagnosis. In 8 cases treatment consisted of intracystic injections of methylprednisolone acetate. In three cases relapse was observed.

[Hyperapo-beta-emia in children. Study of 17 families]. / Hiperapo-beta-emia en niños. Consideraciones a propósito de 17 familias.

Apolipoprotein (apo)-beta is an atherosclerotic risk factor in adults and children. In families with Familial Combined Hyperlipidemia (FCH) it has been described as a lipoprotein phenotype called Hyperapobetalipoproteinemia (Hyperapo-beta) and characterized by increased numbers of small, dense and apo-beta enriched low density lipoproteins. In our Lipids Clinic, we have studied 267 children, but for the purpose of this paper we have only taken into account the 19 of these children who showed increased plasma total apo-beta levels (Hyperapo-beta-emina). To investigate the type of dyslipoproteinemia of these children, we divided them into two groups: 1) Group 1: 10 children with apo-beta levels greater than mean + 2 standard deviations (SD); 2) Group 2: 9 children with apo-beta levels greater than mean + 3 SD. We have also studied the fathers, mothers, brothers and sisters of all the children. Only one child (Group 1) had type IIb hyperlipoproteinemia. The other children had type IIa hyperlipoproteinemia. In each group, 4 families had FCH and the others had either Familial Hypercholesterolemia or Polygenic Hypercholesterolemia. Families with FCH could also have hyperapo-beta. It is possible that in the future some children of FCH families and those with type IIa hyperlipoproteinemia will have increased plasma triglyceride levels. This could be prevented by a proper diet.

[Assessment of the submandibular adipose skinfold for the determination of a nutritional status in children and adolescents]. / Valoración del pliegue adiposo submandibular para la determinación del estado nutricional en la infancia y adolescencia.

OBJECTIVE: The aim of this study was to show the validity of a new skinfold thickness for measuring nutritional status in children. We also compare submandibular skinfold thickness with other anthropometric measures and indices. PATIENTS AND METHODS: We have studied 899 boys and 837 girls between 3.0 and 15.1 years of age. All of them were healthy and from different socioeconomic statuses. We measured weight, height, obesity indices, circumferences, indices of body fat distribution and indices of body fat. Data were divided according to age and sex. We calculated the percentiles of submandibular skinfold thickness and correlations between this parameter and all other measurements were performed. The mean values of the two sexes were compared by using Student's t-test. RESULTS: Submandibular skinfold is an easy and fast skinfold to measure. Its value is maximum at 10 and 11 years in girls and boys, respectively. This measurement is higher in girls than in boys at 5, 7, 10, 13 and 14 years of age (p < 0.05). There was a high correlation between this skinfold value and almost all of the measurements and indices studied, especially with the body mass index (r = 0.589), the sum of the four conventional skinfolds (r = 0.844), arm circumference (r = 0.513), arm fat area (r = 0.776) and percentage body fat (r = 0.830). CONCLUSIONS: Submandibular skinfold thickness in children and adolescents shows a high correlation with body fat indices. It is for this reason that it could be used as a new measurement to assess nutritional status and obesity in children.