Weight loss in prepubertal obese children is associated with a decrease in adipocyte fatty-acid-binding protein without changes in lipocalin-2: a 2-year longitudinal study.

CONTEXT: Lipocalin-2 and adipocyte fatty-acid-binding protein (A-FABP or FABP4) are adipokines potentially involved in the pathophysiology of obesity and metabolic syndrome in adults. In children, they have been scarcely studied. OBJECTIVE: To analyze lipocalin-2 and A-FABP circulating levels before and after 2 years of a dieting and lifestyle intervention in a prepubertal obese cohort. DESIGN AND SETTING: Case-control study with a prospective follow-up of cases for 2 years in our referral pediatric endocrine outpatient center. PATIENTS AND METHODS: Seventy-three prepubertal obese children, 8.03 ± 1.08-years old, and 47 age- and gender-matched lean controls were studied. Anthropometric parameters, blood pressure, fasting oral glucose tolerance test, homeostatic model insulin resistance index (HOMA-IR), lipid profile, lipocalin-2, and A-FABP were evaluated. Weight loss was considered if z-score body mass index (BMI) decreased at least 0.5 s.d. RESULTS: At baseline, lipocalin-2 and A-FABP were higher in prepubertal obese children than those in lean controls (P<0.001). A-FABP showed a gradual increase, according to the obesity degree (r(2)=0.632; P<0.001). After 2 years, obese patients who lost weight showed a decrease in A-FABP (a mean 2% reduction in BMI was associated with a mean 29% decrease in A-FABP (P<0.001)) without changes in lipocalin-2 levels. Regression model analysis adjusted by age, sex, BMI, and HOMA showed that A-FABP was lower in males (ß=-5.77 (CI 95%: -9.7; -1.84)) and was modified by BMI (ß=2.7 (CI 95%: 1.77-3.62), r(2)=0.659). Lipocalin-2 was not modified by any of these variables. CONCLUSIONS: Prepubertal obese children show high plasma lipocalin-2 and A-FABP levels, but only A-FABP is influenced by weight loss.

Síndrome de Prader Willi: estudio de 77 pacientes / Prader Willi syndrome patients: Study of 77 patients

Introducción: El Síndrome de rader-Willi (SPW) es una enfermedad genética que se caracteriza por hipotonía neonatal, hipogonadismo, hiperfagia que conduce a obesidad, estatura baja, retraso en el desarrollo, retraso mental moderado, alteración del comportamiento y apariencia facial característica. Se origina por la pérdida o inactivación de genes de expresión paterna incluidos en la región 15q11-13 regulada por impronta genómica. Existen diferentes causas genéticas: deleción de la región 15q11-q13 de origen paterno en el 70% de los pacientes, disomía uniparental materna en el 20-25% y menos de un 5% presenta defecto de impronta. Se presentan los resultados obtenidos en el estudio transversal clínico-genético de 77 pacientes SPW. Pacientes y métodos: Se ha realizado el estudio de 374 pacientes con sospecha de SPW. Se emplean técnicas citogenéticas de cariotipo con bandas G e hibridación in situ fluorescente (FISH) y técnicas moleculares de microsatélites, Southern blot, MS-PCR y secuenciación. Se emplean los criterios de Holm para la correlación fenotipo-genotipo en 48 pacientes. Resultados: Se confirma el diagnóstico de SPW en 77 pacientes, 46 con deleción, 16 con disomía uniparental, 2 con defecto de impronta y 13 con solo un patrón de metilación SPW. No se observan diferencias significativas en la correlación fenotipo –genotipo. Conclusiones: Las frecuencias de las alteraciones moleculares, 71,87% deleción, 25% DUPmat y 3,12% DI, son similares a las descritas en la literatura. Se presenta el algoritmo de diagnóstico utilizado con la MS-PCR como técnica rápida para confirmar el diagnóstico de SPW (AU)

Background: The Prader-Willi syndrome (PWS) is a disease of genetic origin. It is characterized by neonatal hypotonia, hypogonadism, hiperfagia leading to obesity, low stature, developmental delay, moderate mental retardation, abnormal behavior and characteristic facial appearance. It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11-13. There are different genetic causes: paternal 15q11-q13 deletion in 70% of patients, maternal uniparental disomy in the 20-25% and less than 5% have an imprinting defect. We present the results obtained in the transverse clinical - genetic study of 77 PWS patients. Results: WS was confirmed in 77 patients, 46 deletion, 16 uniparental disomy, two imprinting defect and 13 only PWS methylation pattern. Significant differences do not observe in the correlation phenotype - genotype. Conclusions: The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS (AU)

[Prader Willi syndrome patients: study of 77 patients]. / Síndrome de Prader Willi: estudio de 77 pacientes.

BACKGROUND: The Prader-Willi syndrome (PWS) is a disease of genetic origin. It is characterized by neonatal hypotonia, hypogonadism, hiperfagia leading to obesity, low stature, developmental delay, moderate mental retardation, abnormal behavior and characteristic facial appearance. It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11-13. There are different genetic causes: paternal 15q11-q13 deletion in 70% of patients, maternal uniparental disomy in the 20-25% and less than 5% have an imprinting defect. We present the results obtained in the transverse clinical - genetic study of 77 PWS patients. PATIENTS AND METHODS: There has been realized the study of 374 suspected PWS patients. Cytogenetics studies of bands G and hybridization in situ fluorescent (FISH) and molecular genetics analysis of microsatellites, Southern blot, MS-PCR and sequenciation were carried out. Holm's criteria use for the correlation phenotype - genotype in 48 patients. RESULTS: PWS was confirmed in 77 patients, 46 deletion, 16 uniparental disomy, two imprinting defect and 13 only PWS methylation pattern. Significant differences do not observe in the correlation phenotype - genotype. CONCLUSIONS: The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS.

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