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1.
Nutr Hosp ; 25(5): 845-51, 2010.
Article in English | MEDLINE | ID: mdl-21336445

ABSTRACT

The aim of this prospective study was to evaluate the utility of new biochemical markers to assess cardiometabolic risk in severely obese children and adolescents. A total of 107 subjects aged 7 to 14 years, were clinically assessed and anthropometric measures and percentage of fat mass by single frequency bioimpedance analysis were recorded. Of these, 44 were non-overweight and 63 severely obese (body mass index Z-score>2.5) which were stratified by Tanner stages. To estimate the metabolic risk the following variables were considered for analysis: Waist circumference/height>0.5, fasting glucose>100 mg/dL, triglycerides>110 mg/dL, HDL-C<40 mg/dL, and systolic or diastolic blood pressure>95th percentile for age and gender. Fasting insulinemia, apoprotein A1 and B, high-sensitive C-reactive protein, alanine aminotransferase, homocysteine, and folic and uric acids were determined. In severely obese children, metabolic risk was present more frequently in mid puberty. The normalized anthropometric parameters with respect to 50th percentile for age and gender did not differ in the presence of metabolic risk. Insulin resistance was an independent determinant of metabolic risk, adjusted by Tanner stages. Elevated high-sensitive C-reactive protein was noted without any effect of metabolic risk or pubertal stage. Homocysteine, apoprotein B, and alanine aminotransferase values increased with metabolic risk and were not influenced by puberty. Although insulin resistance remains the main factor influencing metabolic risk, biochemical markers as homocysteine, apoprotein B, and alanine aminotransferase, may be useful for identifying severe obese pubertal subjects particularly prone to comorbidities.


Subject(s)
Cardiovascular Diseases/complications , Metabolic Syndrome/complications , Obesity/complications , Puberty/physiology , Adolescent , Anthropometry , Biomarkers/blood , Blood Chemical Analysis , Cardiovascular Diseases/epidemiology , Child , Female , Humans , Male , Metabolic Syndrome/epidemiology , Prospective Studies , Risk Factors , Terminology as Topic
2.
Rev. neurol. (Ed. impr.) ; 49(9): 472-474, 1 nov., 2009. ilus
Article in Spanish | IBECS | ID: ibc-77802

ABSTRACT

Introducción. Describimos el caso de un lactante en el que la asociación de distrofia muscular de Duchenne (DMD) yuna pseudohipertrigliceridemia condujeron al diagnóstico de un síndrome de deleción de genes contiguos en Xp21. Caso clínico.Niño de 7 meses de edad remitido por retraso psicomotor. En la exploración destacaba una hipotonía axial marcada. Laanalítica mostró una elevación de las enzimas musculares con niveles de creatinfosfocinasa de 12.829 UI/L, junto con cifraselevadas de triglicéridos en sangre. Los hallazgos del electromiograma fueron compatibles con afectación miopática. El estudiogenético de distrofinopatías mostró la existencia de una deleción en el gen de la distrofina. La analítica ampliada identificóconcentraciones elevadas de glicerol tanto en sangre como en orina, compatibles con un déficit de glicerolcinasa. El estudiogenético confirmó la existencia de una deleción en Xp21 de los genes responsables de la DMD, del déficit de glicerolcinasa,de la hipoplasia suprarrenal congénita (gen DAX1) y del retraso mental (gen IL1RAPL1). Conclusiones. En lactantes y niñospequeños con afectación miopática, la elevación de las cifras de creatinfosfocinasa y pseudohipertrigliceridemia debeconsiderarse el síndrome de deleción de genes contiguos en Xp21 para prevenir y tratar las complicaciones metabólicas derivadasde la hipoplasia suprarrenal (AU)


Introduction. We report a case of an infant where the association of Duchenne’s muscular dystrophy (DMD) andpseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21. Case report. A 7-month-oldmale infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hypotonia. Labfindings showed high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L, together with high bloodlevels of triglycerides. Electromyogram findings were consistent with myopathic compromise. The genetic study for dystrophinopathiesrevealed the existence of a deletion in the dystrophin gene. Further lab findings identified high glycerol concentrationsboth in blood and in urine that were compatible with a glycerol kinase deficiency. The genetic study confirmed the existence ofa deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the congenital adrenal hypoplasia (geneDAX1) and mental retardation (gene IL1RAPL1). Conclusions. In infants and small children with myopathic compromise,increased levels of creatine phosphokinase and pseudohypertriglyceridaemia it is essential to take into account contiguousgene deletion syndrome in Xp21 to be able to prevent and treat the metabolic complications arising from adrenal hypoplasia (AU)


Subject(s)
Humans , Male , Infant , Genome, Human/genetics , Genome, Human/physiology , X Chromosome/pathology , X Chromosome/physiology , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/pathology , Renal Insufficiency/complications , Renal Insufficiency/etiology , Down Syndrome/complications , Down Syndrome/genetics
3.
Rev Neurol ; 49(9): 472-4, 2009.
Article in Spanish | MEDLINE | ID: mdl-19859888

ABSTRACT

INTRODUCTION: We report a case of an infant where the association of Duchenne's muscular dystrophy (DMD) and pseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21. CASE REPORT: A 7-month-old male infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hypotonia. Lab findings showed high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L, together with high blood levels of triglycerides. Electromyogram findings were consistent with myopathic compromise. The genetic study for dystrophinopathies revealed the existence of a deletion in the dystrophin gene. Further lab findings identified high glycerol concentrations both in blood and in urine that were compatible with a glycerol kinase deficiency. The genetic study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the congenital adrenal hypoplasia (gene DAX1) and mental retardation (gene IL1RAPL1). CONCLUSIONS: In infants and small children with myopathic compromise, increased levels of creatine phosphokinase and pseudohypertriglyceridaemia it is essential to take into account contiguous gene deletion syndrome in Xp21 to be able to prevent and treat the metabolic complications arising from adrenal hypoplasia.


Subject(s)
Chromosomes, Human, Pair 21/genetics , Gene Deletion , Genetic Diseases, X-Linked/genetics , Hypertriglyceridemia/genetics , Muscular Dystrophy, Duchenne/genetics , Child, Preschool , DAX-1 Orphan Nuclear Receptor/genetics , Dystrophin/genetics , Genetic Diseases, X-Linked/physiopathology , Humans , Hypertriglyceridemia/blood , Hypertriglyceridemia/physiopathology , Infant , Intellectual Disability/genetics , Interleukin-1 Receptor Accessory Protein/genetics , Male , Muscular Dystrophy, Duchenne/physiopathology , Syndrome
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