Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Resultados 1 - 20 de 39
Filtrar
1.
Nutr Metab Cardiovasc Dis ; 28(1): 77-83, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29174028

RESUMEN

BACKGROUND AND AIMS: Inflammation may influence the cardio-metabolic profile which relates with the risk of chronic diseases. This study aimed to assess the inflammatory status by metabolic health (MH)/body mass index (BMI) category and to assess how inflammatory markers can predict the cardio-metabolic profile in European adolescents, considering BMI. METHODS AND RESULTS: A total of 659 adolescents (295 boys) from a cross-sectional European study were included. Adolescents were classified by metabolic health based on age- and sex-specific cut-off points for glucose, blood pressure, triglycerides, high density cholesterol and BMI. C-reactive protein (CRP), tumor necrosis factor alpha (TNF-α), interleukin (IL-6), complement factors (C3, C4) and cell adhesion molecules were assessed. RESULTS: Metabolically abnormal (MA) adolescents had higher values of C3 (p < 0.001) and C4 (p = 0.032) compared to those metabolically healthy (MHy). C3 concentrations significantly increased with the deterioration of the metabolic health and BMI (p < 0.001). Adolescents with higher values of CRP had higher probability of being in the overweight/obese-MH group than those allocated in other categories. Finally, high C3 and C4 concentrations increased the probability of having an unfavorable metabolic/BMI status. CONCLUSIONS: Metabolic/BMI status and inflammatory biomarkers are associated, being the CRP, C3 and C4 the most related inflammatory markers with this condition. C3 and C4 were associated with the cardio-metabolic health consistently.


Asunto(s)
Mediadores de Inflamación/sangre , Inflamación/sangre , Síndrome Metabólico/sangre , Obesidad Infantil/sangre , Adolescente , Factores de Edad , Biomarcadores/sangre , Índice de Masa Corporal , Proteína C-Reactiva/análisis , Estudios de Casos y Controles , Complemento C3/análisis , Complemento C4/análisis , Estudios Transversales , Europa (Continente)/epidemiología , Femenino , Estado de Salud , Humanos , Inflamación/diagnóstico , Inflamación/epidemiología , Masculino , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/epidemiología , Obesidad Infantil/diagnóstico , Obesidad Infantil/epidemiología , Pronóstico , Factores de Riesgo , Factores Sexuales
2.
Clin Genet ; 85(5): 446-51, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-23683030

RESUMEN

The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼ 70% of CdLS cases. We describe a 16-year-old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (sSMC) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.


Asunto(s)
Proteínas de Ciclo Celular/genética , Proteínas Cromosómicas no Histona/genética , Síndrome de Cornelia de Lange/genética , Discapacidad Intelectual/genética , Adolescente , Cromosomas Humanos X , Síndrome de Cornelia de Lange/fisiopatología , Genes Duplicados , Humanos , Discapacidad Intelectual/fisiopatología , Masculino , Fenotipo , Cohesinas
3.
Orphanet J Rare Dis ; 16(1): 458, 2021 10 30.
Artículo en Inglés | MEDLINE | ID: mdl-34717699

RESUMEN

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. METHOD: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. RESULTS: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. CONCLUSIONS: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.


Asunto(s)
Síndrome de Cornelia de Lange , Sistema Nervioso Autónomo , Proteínas de Ciclo Celular/genética , Síndrome de Cornelia de Lange/genética , Humanos , Mutación/genética , Fenotipo
4.
J Physiol Biochem ; 65(4): 415-20, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20358355

RESUMEN

The aim of this study was to investigate fat distribution, mainly abdominal fat, and its relationship with metabolic risk variables in a group of 126 children and adolescents (60 males and 66 females) aged 5.0 to 14.9. According to IOTF criteria, 46 were classified as normal weight, 28 overweight and 52 obese. Weight, height, waist (WC) and hip circumferences were measured. The body mass index (BMI) was calculated. Total body fat, trunkal and abdominal fat were also assessed by dual energy x-ray absorptiometry (DXA). Glucose, insulin, HDL-Cholesterol, triglycerides (TG), ferritine, homocystein and C-reactive protein (CRP) were measured. Obesity status was related with insulin concentrations, CRP, TG and HDL. Obese patients had higher abdominal fat and higher CRP values than overweight and normal subjects. All markers of central body adiposity were related with insulin and lipid metabolism; however, they were not related with homocystein or ferritin. A simple anthropometric measurement, like waist circumference, seems to be a good predictor of the majority of the obesity related metabolic risk variables.


Asunto(s)
Grasa Abdominal/metabolismo , Obesidad/metabolismo , Adolescente , Antropometría , Composición Corporal , Índice de Masa Corporal , Niño , Preescolar , Femenino , Humanos , Insulina/metabolismo , Metabolismo de los Lípidos , Masculino , Obesidad/genética , Análisis de Regresión , Riesgo
5.
J Physiol Biochem ; 65(1): 51-9, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19588731

RESUMEN

The aim of the study was to investigate the relationship between liver transaminase levels and metabolic syndrome (MS) features in obese children and adolescents. A total of 132 children and adolescents (73 males and 59 females) aged 8 - 16, participated in the study. All were studied at the department of Paediatrics, University Hospital of Zaragoza (Spain). Inclusion criteria were the existence of obesity as defined by body mass index (BMI) according to Cole cut-off values (when BMI was higher than the age and sex specific equivalent to 30 kg/m2). The definition of metabolic syndrome was according to the International Diabetes Federation criteria. Weight (kg), height (cm), waist circumference (cm), blood pressure and BMI were measured. Laboratory determinations after overnight fasting included: transaminases (ALT, AST, GGT), fasting glucose, insulin, triglycerides and HDL-C. The MS was found in 21.6% of the obese children and adolescents and the prevalence was higher in males (25.9%) than in females (15.9%). Serum transaminases (ALT, AST and GGT) mean concentrations were higher in males than in females, and decreased during pubertal development. The obese children and adolescents with the MS did not show higher transaminases concentrations when compared with those without the MS. Some MS manifestations (mainly waist circumference) showed a correlation with ALT, although all transaminases values were normal according to adult references. Liver transaminases, a surrogate marker of NAFLD, did not show an early and consistent manifestation of abnormalities in the obese children and adolescents studied. In order to define the presence of the disease, it would be necessary to obtain aminotransferase reference standards for children and adolescents, considering pubertal stage and gender.


Asunto(s)
Obesidad/sangre , Obesidad/enzimología , Transaminasas/metabolismo , Adolescente , Niño , Femenino , Humanos , Masculino , Obesidad/epidemiología
6.
An Pediatr (Barc) ; 84(3): 178.e1-7, 2016 Mar.
Artículo en Español | MEDLINE | ID: mdl-26212421

RESUMEN

Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks.


Asunto(s)
Enfermedades Cardiovasculares/prevención & control , Dieta , Obesidad Infantil/prevención & control , Niño , Endocrinología , Ingestión de Energía , Conducta Alimentaria , Humanos , Pediatría , Factores de Riesgo , Sociedades Médicas
7.
Rev Neurol ; 28(1): 69-73, 1999.
Artículo en Español | MEDLINE | ID: mdl-10101769

RESUMEN

OBJECTIVE: We comment on the most important advances related to the phenomenon of genomic 'imprinting' in clinical paediatric neurology. DEVELOPMENT: Initially, we review the biological findings related to this subject and establish various concepts. Later, we attempt to clarify the different mechanisms of expression of the phenomenon 'imprinting' and its application in clinical practice. We give a detailed review of the various neurological disorders in which this genetic phenomenon has been involved to date. Finally, we attempt to determine when this genetic alteration should be suspected and which molecular biology techniques should be used to confirm the diagnosis. CONCLUSIONS: 1. Clinical diagnosis suspecting that the presence of genomic 'imprinting' may be the mechanism causing a particular pathology should be based on a family tree showing that both sexes and all generations are affected and that the severity of the same disease varies among different members of the same family; 2. Study strategy includes studying the methylation pattern of the DNA. If there are changes in this, PCR should be done to show the exact pattern of the alteration.


Asunto(s)
Impresión Genómica/genética , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/genética , Niño , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Eliminación de Gen , Humanos , Hibridación in Situ/métodos , Neurología , Pediatría , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética
8.
An Pediatr (Barc) ; 81(3): 189.e1-189.e12, 2014 Sep.
Artículo en Español | MEDLINE | ID: mdl-24467823

RESUMEN

INTRODUCTION: Epidemiological studies in many regions and countries have contributed to determining the epidemiology of type 1 diabetes (T1DM) in children less than 15 years old. Studies in many regions of Spain have been published, but the national incidence is not really known. MATERIAL AND METHODS: A review was made of the publications on the epidemiology of T1DM in Spain, selecting the references on patients less than 15 years old. RESULTS: Many epidemiological studies on T1DM in almost all regions in Spain have been published. The methodology of these studies is heterogeneous, with variations in geographical definition, duration, period of study, limit of age, and data collection. The incidence rates are variable, from 11.5 cases per 100,000/year in Asturias to 27.6 in Castilla-La Mancha. Some studies report the percentage of diabetic ketoacidosis at the time of diagnosis, which is usually in the range of 25-40%. CONCLUSIONS: Although there have been various epidemiological studies on T1DM in almost all regions in Spain, the methodology is heterogeneous. The mean incidence of T1DM in children less than 15 years old in Spain, stimated from the selected studies is 17,69 cases per 100,000/year. T1DM registers need to be created and updated, using standardized methodology, to get more reliable data of the epidemiology of T1DM in Spain in the near future.


Asunto(s)
Diabetes Mellitus Tipo 1/epidemiología , Adolescente , Niño , Preescolar , Humanos , Incidencia , Lactante , España/epidemiología
10.
An. pediatr. (2003. Ed. impr.) ; 84(3): 178.e1-178.e7, mar. 2016. tab
Artículo en Español | IBECS (España) | ID: ibc-147747

RESUMEN

La obesidad infantil determina un riesgo elevado de enfermedad cardiovascular. Este artículo realiza una actualización sobre el papel que los factores dietéticos tienen sobre el desarrollo y la prevención de la obesidad en este grupo de edad. Según la evidencia científica, las recomendaciones recogidas son: promover el consumo de hidratos de carbono de absorción lenta y disminuir aquellos con índice glucémico alto, evitar el consumo de bebidas azucaradas, limitar el consumo de grasas a un 30% de las calorías totales diarias y el de grasas saturadas a un 7-10%, reducir la ingesta de colesterol, evitar durante el primer año las fórmulas con alto contenido proteico, aumentar la ingesta de fibra, reducir el aporte de sodio y realizar al menos 4 comidas al día evitando el consumo regular de comida rápida y de snacks


Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks


Asunto(s)
Humanos , Masculino , Femenino , Niño , Obesidad Infantil/complicaciones , Obesidad Infantil/epidemiología , Obesidad Infantil/prevención & control , Enfermedades del Sistema Endocrino/epidemiología , Enfermedades del Sistema Endocrino/prevención & control , Factores de Riesgo , Conducta Alimentaria/fisiología , Metabolismo Energético/fisiología , Consumo de Energía/métodos , Sociedades Médicas/organización & administración , Sociedades Médicas/normas , Endocrinología/legislación & jurisprudencia , Endocrinología/normas , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Índice de Masa Corporal , Micronutrientes/uso terapéutico
11.
An. pediatr. (2003, Ed. impr.) ; 81(3): 189.e1-189.e12, sept. 2014. graf, tab, mapa
Artículo en Español | IBECS (España) | ID: ibc-128048

RESUMEN

INTRODUCCIÓN: Los estudios epidemiológicos sobre diabetes mellitus tipo 1 (DM1) realizados en múltiples países y regiones han contribuido al conocimiento de la epidemiología de la enfermedad en menores de 15 años. En España se han realizado estudios en casi todas las comunidades autónomas, si bien las cifras de incidencia a nivel nacional no son todavía bien conocidas. MATERIAL Y MÉTODOS: Revisión bibliográfica de las publicaciones y comunicaciones sobre epidemiología de la DM1 en menores de 15 años en España. Se han seleccionado las referencias que aportasen datos de pacientes menores de 15 años. RESULTADOS: Se han encontrado estudios en casi todas las comunidades autónomas. La metodología de los estudios realizados es heterogénea, encontrando diferencias en cuanto al ámbito de realización, duración, periodo estudiado, límite superior de edad y método de recogida de datos. Las tasas de incidencia comunicadas varían desde los 11,5 casos/100.000 habitantes-año en Asturias hasta los 27,6 de Castilla-La Mancha. En ocasiones se especifica el porcentaje de casos que presentan cetoacidosis diabética en el momento del diagnóstico, habitualmente en el rango del 25-40%. CONCLUSIONES: En España se han realizado múltiples estudios epidemiológicos de DM1 en menores de 15 años, con una metodología heterogénea. La incidencia media de DM1 en menores de 15 años en España estimada en base a los estudios revisados sería de 17,69 casos/100.000 habitantes-año. Creemos conveniente mantener los registros de DM1 en funcionamiento y crearlos en aquellas comunidades autónomas donde no existen, así como unificar en lo posible la metodología utilizada de cara a obtener datos precisos sobre la epidemiología de la DM1 en España y conocer la evolución de la incidencia de la enfermedad en los próximos años


INTRODUCTION: Epidemiological studies in many regions and countries have contributed to determining the epidemiology of type 1 diabetes (T1DM) in children less than 15 years old. Studies in many regions of Spain have been published, but the national incidence is not really known. MATERIAL AND METHODS: A review was made of the publications on the epidemiology of T1DM in Spain, selecting the references on patients less than 15 years old. RESULTS: Many epidemiological studies on T1DM in almost all regions in Spain have been published. The methodology of these studies is heterogeneous, with variations in geographical definition, duration, period of study, limit of age, and data collection. The incidence rates are variable, from 11.5 cases per 100,000/year in Asturias to 27.6 in Castilla-La Mancha. Some studies report the percentage of diabetic ketoacidosis at the time of diagnosis, which is usually in the range of 25-40%. CONCLUSIONS: Although there have been various epidemiological studies on T1DM in almost all regions in Spain, the methodology is heterogeneous. The mean incidence of T1DM in children less than 15 years old in Spain, stimated from the selected studies is 17,69 cases per 100,000/year. T1DM registers need to be created and updated, using standardized methodology, to get more reliable data of the epidemiology of T1DM in Spain in the near future


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/prevención & control , Control de Formularios y Registros , Ficha Clínica , España/epidemiología , Bibliometría
12.
An Esp Pediatr ; 47(6): 595-600, 1997 Dec.
Artículo en Español | MEDLINE | ID: mdl-9575118

RESUMEN

OBJECTIVE: The objective of this study was to determine how accurately three methods of height prediction (the Bayley-Pinneau, Tanner-Whitehouse Mark 1 and Roche-Wainer-Thissen methods) estimate adult height in a group of 17 girls and 7 boys treated for congenital primary hypothyroidism. PATIENTS AND METHODS: The patients were diagnosed at a mean chronological age of 1.2 years. Their thyroxine treatment dose ranged between 3.1 and 8.6 micrograms/kg/day. Height predictions at various chronological ages were retrospectively compared to final adult height. The first prediction was made at a chronological age of 7.3(1.1) years, corresponding to the sixth year of treatment. Heights were expressed in centimeters and standard deviation scores (SDS) and related to Tanner standardized curves. RESULTS: The final heights reached were significantly higher than the target heights (-0.5 (0.7) SDS vs -1.1 (0.9) SDS, p < 0.01). The three methods accurately estimated adult height. Tanner and Bayley-Pinneau height predictions were similar. The Roche method over-predicted height at all chronological ages with a mean error which ranged between +2 (3.2) centimeters and +2.8 (2.1) centimeters. CONCLUSIONS: 1) The patients who were diagnosed and treated early for congenital primary hypothyroidism reach an adult height in the normal range, which is probably related to the total recovery of their retarded bone age. 2) In this pathological condition, the Bayley-Pinneau and Tanner-Whitehouse Mark 1 are the most reliable methods of height prediction.


Asunto(s)
Estatura , Hipotiroidismo Congénito , Crecimiento/fisiología , Determinación de la Edad por el Esqueleto , Distribución por Edad , Antropometría , Niño , Desarrollo Infantil/fisiología , Preescolar , Femenino , Humanos , Hipotiroidismo/tratamiento farmacológico , Lactante , Masculino , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Distribución por Sexo , Hormonas Tiroideas/uso terapéutico , Tiroxina/uso terapéutico
13.
An Esp Pediatr ; 28(6): 531-6, 1988 Jun.
Artículo en Español | MEDLINE | ID: mdl-3057971

RESUMEN

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.


Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Humanos
14.
An Esp Pediatr ; 30(6): 425-8, 1989 Jun.
Artículo en Español | MEDLINE | ID: mdl-2572193

RESUMEN

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.


Asunto(s)
Enfermedad Coronaria/prevención & control , Marcadores Genéticos , Hiperlipoproteinemias/diagnóstico , Hipolipoproteinemias/diagnóstico , Apolipoproteínas/genética , Apolipoproteínas/metabolismo , Enfermedad Coronaria/etiología , Humanos , Hiperlipoproteinemias/complicaciones , Hiperlipoproteinemias/genética , Hipolipoproteinemias/complicaciones , Hipolipoproteinemias/genética , Recién Nacido , Familia de Multigenes , Polimorfismo de Longitud del Fragmento de Restricción
15.
An Esp Pediatr ; 49(1): 27-32, 1998 Jul.
Artículo en Español | MEDLINE | ID: mdl-9718763

RESUMEN

OBJECTIVE: The objective of this study was to determine how accurately three methods of height prediction estimate adult height in a group of 27 boys and 16 girls with untreated short stature who have reached adult height. Twenty of the patients were considered to have familial short stature, 8 constitutional delay of growth and puberty, 12 a combination of both conditions and 3 idiopathic short stature. PATIENTS AND METHODS: Height predictions at various chronological ages were retrospectively compared to final adult height according to the Tanner-Whitehouse Mark I, Bayley-Pinneau and Roche-Wainer-Thisen methods. Heights were expressed as centimeters and standard deviation scores (SDS) and related to Tanner standardized curves. RESULTS: The final heights reached were significantly below the target height [-2.0 (0.5) SDS versus -1.6 (0.6), p < 0.01]. The three methods over-estimated adult height. The Bayley-Pinneau method was especially accurate in girls and in familial short stature. The Tanner and Bayley-Pinneau predictions were similar in constitutional delay of growth and puberty. The Roche method gave the greatest errors in all groups. CONCLUSIONS: 1) Thee groups of normal variant short stature patients reached an adult height in the lower normal range. 2) The three method of height prediction over-estimated final height. 3) As in some pathological conditions, the Bayley-Pinneau was the most reliable method of height prediction in children with short stature. 4) These children may be considered as a historical group to evaluate the effect of growth-promoting therapies.


Asunto(s)
Estatura , Trastornos del Crecimiento/diagnóstico , Niño , Femenino , Trastornos del Crecimiento/genética , Humanos , Masculino , Estudios Retrospectivos
16.
An Esp Pediatr ; 46(5): 447-54, 1997 May.
Artículo en Español | MEDLINE | ID: mdl-9297397

RESUMEN

A retrospective study analyzing etiological, clinical and hormonal aspects in a population of 45 patients (14 males and 31 females) with permanent hypogonadism was performed, the most important findings were: 1) The most common cause of hypogonadism was gonadal failure (60% of all patients). This included-twenty-three females and four males. Eighteen patients had XO, two XY and two more XX gonadal dysgenesis. In the remaining cases, three patients had bilateral agonadism and two had testicular atrophy secondary to radiochemotherapy. 2) Eighteen patients had hypogonadotropic hypogonadism (40% of the cases). Ten were males and eight females. Eleven patients had gonadotropin deficiency associated with other pituitary dysfunctions. Deficiency of GH was found in all cases. TSH in ten, ACTH in nine and ADH in five. An increase in prolactin was observed in seven patients. The etiology of the hypopituitarism was intracranial tumors in five cases, idiopathic in three, perinatal hypoxemia in two and hypoplastic pituitary in one. In the remaining seven cases, isolated gonadotropin deficiency was found. Four cases were idiopathic, two cases had demyelinating diseases and one beta-thalassaemia. 3) Mean levels of testosterone were 4.20 +/- 6.5 (0, 20) pg/ml. Meal levels of estradiol of the total group, gonadal failure patients and those with hypogonadotropic hypogonadism were 8.51 +/- 14.7 (0, 50), 9 +/- 16 (0, 50) and 7.12 +/- 10.98 (0, 29) pg/ml, respectively. 4) Mean basal levels of LH and FSH in patients with gonadal failure were 35.57 +/- 60.66 (5, 320) and 53.19 +/- 53.92 (4, 230) mUi/ml, respectively. In hypogonadotropic hypogonadism patients, mean basal and peak levels of LH were 0.98 +/- 1.24 (0, 5) and 3.45 +/- 3.94 (0, 12) mUi/ml, respectively. Mean basal and peak levels of FSH after LHRH stimulation were 1.43 +/- 1.88 (0, 6) and 3.85 +/- 4.85 (0, 17) mUi/ml, respectively.


Asunto(s)
Hipogonadismo , Adolescente , Niño , Preescolar , Estradiol/sangre , Femenino , Hormona Folículo Estimulante/sangre , Gonadotropinas/sangre , Humanos , Hipogonadismo/sangre , Hipogonadismo/diagnóstico , Hipogonadismo/etiología , Recién Nacido , Hormona Luteinizante/sangre , Masculino , Testosterona/sangre
17.
An Esp Pediatr ; 47(2): 167-71, 1997 Aug.
Artículo en Español | MEDLINE | ID: mdl-9382349

RESUMEN

UNLABELLED: In this study we have assessed the frequency of karyotypes, phenotypes and some associated diseases 23 girls affected with turner's syndrome. Moreover, we have analyzed their relationships. RESULTS: The most important findings the following: 1) The mean age at diagnosis was 7.37 +/- 5.65 (0, 16) years. 2) The most frequent karyotype was monosomy 45XO, which was found in fourteen patients (60.9%), followed by isochromosome of the long arm of chromosome 46 XiXq in five cases (21.7%), two mosaics, one 45 XO/46 XiXq and one 45XO/46XX, and two deletions of the short arm of chromosome X (46 XX Xp-). 3) The classical phenotype was found in 87% of the cases. 4) Bone malformations were found in nine patients (39.1%). The most frequent were, short metacarpals in five cases, knee anomalies (Kosowicz's sign) in four, one Madelung deformity and one alata scapula. 5) Renal malformations were detected in five patients (21.8%), two rotational abnormalities, two horseshoe kidneys and one double collecting system. 6) Cardiovascular malformations were found in four cases (17.3%). Three bicuspid aortic valves and one aortic coarctation were diagnosed. 7) Otitis media was discovered in seven girls (30.5%). 8) Other processes found were, congenital lymphedema in four cases, one Klipell-Trenaunay syndrome, one Dandy-Walker anomaly, one congenital glaucoma, one colesteatoma, one congenital torticolis, one hit luxation and one essential arterial hypertension. A significant correlation was found between karyotype and phenotype, such that all of the patients with monosomies and with mosaics, 66% of those with X isochromosomes and one of the patients with a deletion had a classical phenotype. We found no correlation between the karyotype and the different malformations and associated diseases.


Asunto(s)
Anomalías Congénitas/genética , Síndrome de Turner/genética , Adolescente , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Cariotipificación , Estudios Retrospectivos
18.
An Esp Pediatr ; 34(3): 203-6, 1991 Mar.
Artículo en Español | MEDLINE | ID: mdl-2064148

RESUMEN

Infectious diarrhoea are common causes of morbility in children. Although viral agents are responsible for the majority of cases of acute diarrhoea during infancy, bacterial infections are also well recognized as causes of them. 256 patients with diarrhoea due to a bacterial pathogen were studied to determine the importance of different epidemiologic factors. The study group comprised 151 boys (59%) and 105 girls (41%) aged between first month and 14 years. Family history of acute diarrhoea was found in 15% of children. 63,7% of them were hospitalized by the severity of clinical features. 32% of cases were detected in summer. Salmonella entérica was isolated in 45% of stool samples and Campylobacter spp in 33,2%. Clinical evolution of diarrhoea differentiated the patients into three groups: acute diarrhoea (95,7%), prolonged diarrhoea (3,1%) and chronic diarrhoea (1,1%).


Asunto(s)
Diarrea Infantil/epidemiología , Infecciones Bacterianas/epidemiología , Infecciones Bacterianas/microbiología , Niño , Preescolar , Diarrea Infantil/microbiología , Epidemiología , Femenino , Humanos , Lactante , Masculino , España/epidemiología
19.
An Esp Pediatr ; 54(1): 13-7, 2001 Jan.
Artículo en Español | MEDLINE | ID: mdl-11181189

RESUMEN

OBJECTIVE: To study the relationship between certain aspects of puberal development in a group of women with primary congenital hypothyroidism diagnosed before the introduction of neonatal screening programs and in a control group of healthy women. PATIENTS AND MEASUREMENTS: Longitudinal retrospective study of 15 women with primary congenital hypothyroidism and 26 healthy women. Height, chronological and bone age, and growth velocity are expressed in centimeters and centimeters per year, respectively. Bone age was analyzed by the Greulich and Pyle atlas. Bone and chronological age are expressed in decimal year. Statistical data were expressed as the means and as the maximum and minimum standard deviations. The Student-Fisher t-test was used to compare the two groups. RESULTS: 1. Evolution of mean height measurements in the hypothyroid and control group respectively were as follows: 154.565.11 and 156.465.28 for genetic height; 140.065.21 and 138.965.95 in tanner's B2, and 153.763.32 and 155.065.93 at menarche. Final height was 157.863.71 and 158.965.95. The difference between final and genetic height was 3.2564.17 and 2.1664.18. The increase in height after menarche was 4.1261.61 and 3.9261.81. The total increase in height during puberty was 17.7464.32 and 20.4665.30. The percentage of height reached during puberty compared with final height was 11.2462.70 and 12.8263.18. 2. Evolution of mean chronological age was respectively: 11.5761.01 and 10.7561.36 in tanner's B2 P=0.05); 13.48+/-0.88 and 13.18+/-1.12 at menarche, and 16.25+/-1.33 and 14.91+/-1.12 at reaching final height (p=0.01). Time between Tanner's B2and B3, B3and B4and B2and B4were 0.61+/-0.23and 0.98+/-0.60 (p=0.01), 0.71+/-0.33and 0.70+/-0.33, 1.32+/-0.51 and1.65+/-0.70. Time between B2and menarche was 1.92+/-0.55 and 2.46+/-1.05(p=0.05) and between menarche and final height was 2.89+/-1.04 and 1.70+/-0.63 (p=0.001). 3. Evolution of mean bone age measurements was respectively: 10.57+/-1.51 and 10.67+/-1.26 in Tanner's B2, and 13.600.97 and 13.27+/-0.65 at menarche. Development of bone age between Tanner's B2 and B3, B3 and B4 and B2and B4was 1.02,0.60 and 0.91,0.65, 1.12,0.76and 0.96+/-0.59, and 2.13+/-1.29 and 1.74+/-1.04, respectively, and between B2 and menarche it was 3.17+/-1.25 and 2.66+/-1.38.4. Mean growth velocity in real time elapsed between different intervals and in centimeters per year was as follows: between B2 and B3:.05+/-2.09, 5.75+/-2.80 and 8.40+/-1.80, 6.24+/-1.74(p=0.01); between B3 and B4: 4.74+/-1.54, 4.97+/-2.82 and 7.31+/-2.14, 7.14+/-1.68; between B2 and B4: 7.40+/-3.70,0.90+/-4.13 and 7.40+/-2.18, 6.75+/-1.34 and between B2and menarche: 13.62+/-4.41, 15.96+/-5.42and 7.20+/-1.57, 6.90+/-1.27 respectively. CONCLUSIONS: In women with hyperthyroidism puberty was normal, except that onset was delayed, development was faster and the postmenarche growth period was longer than in the control group. Bone maturation and growth velocity were similar in both groups, and both of them reached a normal final height compared with their target height.


Asunto(s)
Hipotiroidismo Congénito , Hipotiroidismo/fisiopatología , Pubertad , Adolescente , Determinación de la Edad por el Esqueleto , Factores de Edad , Femenino , Humanos , Estudios Longitudinales , Estudios Retrospectivos
20.
An Esp Pediatr ; 51(6): 657-63, 1999 Dec.
Artículo en Español | MEDLINE | ID: mdl-10666900

RESUMEN

OBJECTIVE: In order to establish the normal patterns of forearm bone mineral density (BMD), BMD in the cortical and trabecular parts of the distal forearm were studied in a normal pediatric population. PATIENTS AND METHODS: BMD was measured by dual-energy X-ray absorptiometry (HOLOGIC QDR-1000) in the distal third forearm of 246 normal children and adolescents (111 boys and 135 girls) ranging from 2.8 to 20.8 years of age. BMD was correlated by multiple regression analysis with age, weight, body mass index (BMI), sex and pubertal Tanner stage. RESULTS: Forearm BMD increased progressively with age, weight, height, BMI and maturity, with the maximal increase in all forearm bone sites occurring at the onset of puberty in girls and boys. A statistically significant correlation was found between forearm BMD and all of these variables (r = 0.65 to 0.92). Mean BMD was higher in boys than in girls in cortical, trabecular and cortical-trabecular sites of the distal forearm. Maximal differences in BMD between boys and girls occurred at 17-18 years of age, especially the trabecular-dominated (ultradistal) part of the distal forearm (0.446 vs 0.384 g/cm2). CONCLUSIONS: Forearm BMD studies permit information of both cortical and trabecular bone mineralization to be obtained at the same time. This study reports normative data for forearm BMD in a healthy pediatric population. The values obtained may be used as a reference of normality when evaluating bone density in situations where skeletal mineralization may be compromised.


Asunto(s)
Densidad Ósea , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Masculino , Radio (Anatomía) , Valores de Referencia , Cúbito
SELECCIÓN DE REFERENCIAS
Detalles de la búsqueda