ABSTRACT
Infants born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature, and metabolic alterations in later life. Moreover, the post-natal growth pattern of SGA infants may be an important contributor to health outcomes later in life, which can be influenced by adipokines. The aims of this study were to compare plasma adipokine profiles (leptin, adiponectin, vaspin, chemerin, and nephroblastoma overexpressed (NOV/CCN3)) among SGA newborns aged 3 months, with low, normal, or high catch-up, to search for potential differences between males and females and to analyze the evolution of several adipokines in plasma from SGA newborns between 3 and 24 months. This prospective, longitudinal study was addressed in SGA Caucasian subjects at Hospital Universitario de Álava-Txagorritxu. We observed that infants with fast catch-up showed significantly lower birth weight than the other two groups. As far as adipokines are concerned, they could have an influence on catch-up type because differences among the three experimental groups were found. It may be proposed that health prognoses in infants with slow and fast catch-up are opposite, not only in adulthood but also during their first months. Finally, adipokine evolution patterns during the first 24 months of age differ, depending on the adipokine, and 24-month-old males show lower levels of leptin, adiponectin, and omentin than females.
Subject(s)
Adipokines/blood , Child, Preschool , Female , Gestational Age , Humans , Infant , Infant, Newborn , Infant, Small for Gestational Age , Longitudinal Studies , Male , Prospective StudiesABSTRACT
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Subject(s)
Humans , Child , Infant, Small for Gestational Age/metabolism , Infant, Small for Gestational Age/physiology , Infant, Small for Gestational Age/growth & development , Breast Feeding/methods , Breast Feeding/trends , Milk, Human/physiology , Feeding Behavior/physiology , Exercise/physiology , Diet Therapy/methods , Carbohydrates/physiologyABSTRACT
BACKGROUND: Non-alcoholic fatty liver disease is the most frequent liver abnormality observed in overweight or obese children and is strongly associated with metabolic syndrome and insulin resistance. OBJECTIVES: (i) To evaluate the effect of a 22-week multidisciplinary intervention program on hepatic fat fraction in overweight or obese children and (ii) to examine the effect of the intervention on cardiometabolic risk factors, self-esteem and well-being. METHODS: A total of 160 children, 9-11 years, will be recruited by pediatricians and randomly assigned to control (N = 80) or intervention (N = 80) groups. The control group will receive a family-based lifestyle and psycho-educational program (2 days/month), while the intervention group will attend the same lifestyle education and psycho-educational program plus the exercise program (3 days/week). The duration of training sessions will be 90 min of exercise, including warm-up, moderate to vigorous aerobic activities, and strength exercises. The primary outcome is the change in hepatic fat fraction (magnetic resonance imaging, MRI). Secondary outcomes include cardiometabolic risk factors such as total adiposity (dual Xray absorptiometry), visceral adiposity (MRI), functional peak aerobic capacity (cardiopulmonary exercise testing), blood pressure, muscular fitness, speedagility, and fasting blood insulin, glucose, C-reactive protein, alanine aminotransferase, aspartate aminotransferase, gamma glutamyltransferase, lipid profile and psychological measurements (questionnaires). All the measurements will be evaluated at baseline prior to randomization and after the intervention. DISCUSSION: This study will provide insight in the efficacy of a multidisciplinary intervention program including healthy lifestyle education, psycho-education and supervised exercise to reduce hepatic fat and cardiometabolic risk in overweight children.
Subject(s)
Non-alcoholic Fatty Liver Disease/etiology , Overweight/complications , Overweight/therapy , Pediatric Obesity/complications , Pediatric Obesity/therapy , Weight Reduction Programs/organization & administration , Adiposity , Behavior Therapy/methods , Blood Glucose , Blood Pressure , Body Composition , Body Mass Index , C-Reactive Protein , Child , Exercise , Family , Female , Health Behavior , Humans , Life Style , Liver Function Tests , Male , Non-alcoholic Fatty Liver Disease/physiopathology , Physical Fitness , Research DesignABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Child , Obesity/epidemiology , Metabolic Syndrome/epidemiology , Emigrants and Immigrants/statistics & numerical data , Risk FactorsABSTRACT
El síndrome de Noonan es un síndrome de base genética que suele diagnosticarse en la edad pediátrica. Sus principales rasgos son la afectación cardiaca, las anomalías craneofaciales y esqueléticas. Se han descrito diversas manifestaciones neurológicas asociadas, siendo poco frecuente la presencia de crisis. Presentamos a un paciente diagnosticado de un síndrome de Noonan que presentó crisis comiciales asociadas
Noonan Syndrome (NS) is a genetic-based disorder. Its diagnosis is usually made in the pediatric period of life. Its mainest features are heart disorders and craniofacial abnormalities. Several neurological symptoms have been related to NS. Epileptic seizures are not often present in NS. We report the case of a patient with NS and seizures
Subject(s)
Humans , Male , Adolescent , Noonan Syndrome/complications , Epilepsy, Tonic-Clonic/diagnosis , Electroencephalography , Anticonvulsants/therapeutic useABSTRACT
Introducción: El grupo de trabajo para el estudio del niño nacido pequeño para edad gestacional (PEG) de la Sociedad de Endocrinología Pediátrica (SEEP) propone este documento de recomendaciones para el seguimiento y manejo de los niños PEG atendiendo a la morbilidad específica de estos, derivada de su condición PEG y a las consecuencias en la edad adulta. Material y métodos: Actualmente, el manejo de estos pacientes presenta una variabilidad entre los distintos centros y profesionales de la salud. En este documento, definimos los criterios auxológicos de PEG según los actuales consensos internacionales, incluido el paciente prematuro que cumple criterios de PEG; pero excluido el seguimiento de pacientes con cuadros sindrómicos que pueden cursar con bajo peso de nacimiento. También presentamos las posibles patologías asociadas a la condición de PEG y recomendamos tratamientos específicos y medidas preventivas. Conclusiones: El bajo peso al nacimiento es la principal causa de morbilidad en la infancia y está asociado a un mayor potencial de problemas de salud en edades posteriores de la vida. La niñez supone una ventana temporal crítica donde el desarrollo de estos eventuales riesgos para la salud es potencialmente reversible, mediante la intervención ambiental y la modificación hacia estilos de vida más saludables. En consecuencia, este documento no solo debería ser de utilidad para los pediatras de atención primaria, sino también para neonatólogos, endocrinólogos pediátricos, neuropediatras y gastroenterólogos infantiles, así como también para los padres de estos niños(AU)
Introduction: In this document the Small for Gestational Age (SGA) Child Working Group of the Spanish Society for Paediatric Endocrinology proposes the guidelines for the management and follow-up of SGA children, highlighting the potential morbidity arising from the SGA condition and its consequences in adulthood. Material and methods: There is currently a wide variability in the management of the SGA child between health centres and health professionals. The diagnostic criteria for SGA according to the last international consensus guidelines are defined, which also include preterm SGA patients but excluding those patients in whom low birth weigh is associated with specific syndromes. We also outline the potential abnormalities associated with the SGA condition and recommend specific therapeutic and preventative measures. Conclusions: Low birth weight remains a major cause of morbidity in childhood and is associated with an increased risk of health problems later in life. Childhood is a critical window during which some of the risk factors accounting for this sequence are potentially reversible, with healthy lifestyle measures and environmental intervention. Accordingly, these guidelines should be useful not only for Primary Care Paediatricians but also for Neonatologists, Paediatric Endocrinologists, Neuropaediatricians and Pediatric Gastroenterologists, and also for the parents(AU)
Subject(s)
Humans , Male , Female , Child , Infant, Small for Gestational Age/growth & development , Infant, Small for Gestational Age/metabolism , Infant, Low Birth Weight/growth & development , Infant, Low Birth Weight/metabolism , Infant, Low Birth Weight/physiology , Primary Health Care/methods , Primary Health Care/trends , Adrenarche/physiology , Puberty/physiology , Infant, Small for Gestational Age/physiology , Infant, Very Low Birth Weight/growth & development , Infant, Very Low Birth Weight/physiology , Risk Factors , Risk Factors , Cardiovascular Diseases/prevention & control , Psychomotor Performance/physiologyABSTRACT
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Subject(s)
Humans , Female , Infant, Newborn , Mutation/genetics , Adrenal Hyperplasia, Congenital/genetics , Steroid 21-Hydroxylase/genetics , PedigreeABSTRACT
La forma clásica de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa (21-OHD) se debe a mutaciones del gen CYP21A2. La gran mayoría de los alelos deficientes muestran mutaciones que preexisten en un seudogen homólogo y localizado en tandem: CYP21A1. Los alelos se heredan de los padres portadores, y las mutaciones de novo en el transcurso de la gametogénesis o en el desarrollo fetal son excepcionales. Este artículo describe a una paciente afectada de 21-OHD clásico que presentó en su alelo materno la mutación de novo I172N en heterocigosis compuesta con la mutación grave R356W heredada del padre. La madre de la paciente resultó negativa en el estudio de mutaciones del gen CYP21A2. El estudio complementario de marcadores indirectos tipo microsatélite confirmó una segregación correcta de los alelos parentales. La mutación I172N (en heterocigosis compuesta con mutación nula) da lugar a un fenotipo muy característico neonatal virilizante que no asocia crisis de pérdida salina (AU)
The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting (AU)
Subject(s)
Humans , Female , Infant, Newborn , Mutation/genetics , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/genetics , Prenatal Diagnosis/methods , Prenatal Diagnosis/trends , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/physiopathology , Histocompatibility/genetics , Histocompatibility Testing/methods , Histocompatibility TestingABSTRACT
The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting.
Subject(s)
Adrenogenital Syndrome/genetics , Mutation , Steroid 21-Hydroxylase/genetics , Female , Humans , Infant, NewbornSubject(s)
Adrenal Hyperplasia, Congenital/genetics , Mutation , Female , Humans , Infant, Newborn , PedigreeABSTRACT
La obesidad infantil supone un problema de primer orden en nuestra sociedad. Asimismo, la inmigración es un fenómeno creciente en nuestro país. Este estudio tiene como objetivo describir la situación clínica previa y posterior a una intervención nutricional en una población infantil, valorando la posible influencia que puede tener la presencia de un mayor y progresivo número de niños inmigrantes. Para ello, se utilizó como material de estudio a todos los pacientes remitidos a nuestra consulta de obesidad con un índice de masa corporal (IMC) con una desviación estándar >2. Los resultados ponen de manifiesto que los niños inmigrantes presentan una tasa mayor de frecuentación en la consulta, las obesidades que presentan son más graves, dejan de acudir a los seguimientos periódicos con mayor frecuencia y consiguen peores resultados en cuanto a pérdida de IMC que sus homólogos españoles. Asimismo, presentan una mayor prevalencia de síndrome metabólico. Las barreras idiomática y cultural, así como la ausencia de percepción de enfermedad, hacen de este colectivo de niños inmigrantes una población más vulnerable frente a esta patología (AU)
Childhood obesity is a problem of primary importance in our society. Likewise, immigration is an increasing phenomenon in Spain. The objective is to describe the clinical status before, during and after a dietary intervention in a group of obese children in the attempt to determine the importance of the growing number of immigrant children. We study the patients who are referred to our pediatric obesity unit with a body mass index standard deviation score greater than 2. The prevalence of obesity is higher among immigrant children; their obesity is more severe, they fail to continue the periodic follow-up visits more frequently and have poorer results in terms of reducing the body mass index than Spanish children. Moreover, the incidence of metabolic syndrome is higher. Difficulties with language, cultural differences and the lack of perception of obesity as a disease make the group of immigrant children more vulnerable to obesity (AU)
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Transients and Migrants , Obesity/metabolism , Obesity/therapy , Nutrition Therapy , Metabolic Syndrome/epidemiology , Nutrition Programs , Body Mass Index , Prevalence , Severity of Illness IndexABSTRACT
No disponible
Subject(s)
Humans , Female , Infant , Alkaline Phosphatase/blood , Spasms, Infantile/complicationsABSTRACT
No disponible
Subject(s)
Humans , Male , Child, Preschool , Osteochondrodysplasias/diagnosis , Body Height , Growth Disorders/etiology , Genetic CounselingABSTRACT
La displasia espondilometafisaria es un tipo de displasiaósea caracterizada por alteraciones de diversa gravedada nivel de vértebras y metáfisis óseas. El diagnóstico es complejoya que los cambios óseos difieren a lo largo de la edaddel paciente.En este trabajo presentamos iconografía de un pacientede 3 años de edad y de su padre, afectos de una displasiaespondilometafisaria tipo Kozlowski (AU)
Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult becausethe severity of bone involvement differs and symptomschange according to the age.of the patient. In this study, radiographic findings of a 3years-old male patient and his father diagnosed as Kozlowskitype spondylometaphyseal dysplasia is reported (AU)
Subject(s)
Humans , Male , Child, Preschool , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias , Pedigree , PhenotypeABSTRACT
La obesidad infantil supone un problema de primer orden en nuestra sociedad. Así mismo, la inmigración es un fenómeno creciente en nuestro país. Este estudio tiene como objetivo describir la situación clínica previa y posterior a una intervención nutricional en una población infantil, valorándola posible influencia que puede tener la presencia de un mayor y progresivo número de niños inmigrantes. Para ello se utilizará como material a estudiar los pacientes remitidos a nuestra consulta de obesidad y con IMC >2 SDS. Los resultados evidencian que los niños inmigrantes presentan una tasa de frecuentación en la consulta mayor, las obesidades que presentan son más severas, dejan de acudir a los seguimientos periódicos con mayor frecuencia y consiguen peores resultados en cuanto a pérdida de IMC que sus homólogos españoles. Así mismo, tienen más prevalencia de síndrome metabólico. Como discusión, la barrera idiomática, cultural y la ausencia de percepción de enfermedad hace a este colectivo de niños inmigrantes más vulnerables frente a esta patología (AU)
Childhood obesity is a first rate problem in our society. Even so is an increasing phenomenon in our country. Objective: To describe the clinical situation before and after starting a nutritional intervention in a group of children with obesity, trying to know the importance of the progressive number of immigrants children. Material and methods: Study of patients who are remitted to our obesity paediatric consults and have more than 2 SDS of BMI. Results: Immigrants children have a higher rate of obesity; their obesity is more severe, leave to assists to the consult with more frequency and get poor results losing BMI than Spanish children. Discussion: difficulties with language, different culture and the no perception of illness in the problem of obesity, make this collective more vulnerable for obesity (AU)
Subject(s)
Humans , Male , Female , Child , Nutrition Assessment , 52503/physiology , Child Nutrition/education , Child Nutrition/physiology , Obesity/diet therapy , Transients and Migrants , Metabolic Syndrome/diagnosis , Metabolic Syndrome/epidemiology , Censuses , Obesity/epidemiology , Obesity/prevention & control , Diet, Reducing/methods , Prospective StudiesABSTRACT
No disponible
Subject(s)
Infant , Humans , DiGeorge Syndrome/complications , Ectromelia/complications , DiGeorge Syndrome/drug therapy , DiGeorge Syndrome , Ectromelia/drug therapy , Ectromelia/etiology , Calcium/administration & dosage , Calcium/pharmacology , Calcitriol/administration & dosage , Calcitriol/pharmacologyABSTRACT
OBJECTIVE: To determine the possible association between the decrease in emergency episodes and the strike in day care centers in Vitoria (Spain) in the autumn of 2004, which affected 86 % of children attending these centers. PATIENTS AND METHOD: We performed a retrospective observational study. In Vitoria, there were 27404 children under the age of 14 in 2004; of these, 5890 were under the age of 3 years. The day care centers on strike affected 25.4 % of the latter. We compared emergency episodes and hospital admissions during the strike (September to November, 2004) with those occurring in the previous 5 years. To contrast the hypothesis, a comparison of proportions was used with statistical significance set at p < 0.005. RESULTS: A significant decrease (rate x 1000 inhabitants) was observed in the number of emergency episodes in children under 3 years old in two of the three months of the strike (October and November, p < 0.01). No significant differences were observed in emergency rates in children aged more than 3 years old, or in hospital admissions in all ages. CONCLUSIONS: These data suggest that children attending day care centers have a higher risk of catching banal diseases (which do not require hospital admission and are probably infectocontagious illnesses) than children not attending these centers, thus increasing demand for pediatric emergency services. Since the solution does not lie in closing day care centers, hygienic and sanitary measures should be maximized in these centers.
