ABSTRACT
OBJECTIVE: The fat mass and obesity-associated gene (FTO) participates in the control of postnatal weight gain. We assessed whether FTO is expressed in human placenta and whether such expression relates to prenatal weight gain and to the rs9939609 single nucleotide polymorphism (SNP) in FTO. DESIGN AND SUBJECTS: In a birth cohort study, placentas from women (n = 147) with an uncomplicated, singleton, term pregnancy were weighed at delivery. Real-time PCR was used to study, in placental tissue, the expression of FTO and of housekeeping genes (TATA box binding protein and succinate dehydrogenase complex, subunit A) and to genotype the rs9939609 SNP in FTO. Weights and lengths of the newborns were measured; circulating insulin and insulin-like growth factor-I (IGF-I) were quantified in cord blood. RESULTS: FTO was highly expressed in placenta and was associated with increased fetal weight and length (P<0.001 to P<0.0001). Maternal parity showed an interaction (P<0.001) in the association between placental FTO expression and placental weight. Placental FTO mRNA expression was associated with increased fetal-to-placental weight ratio (P<0.005) in infants from primiparous women, and was associated with increased fetal weight and length and placental weight (P<0.001 to P<0.0001) in infants from nonprimiparous women. These associations were not explained by either cord insulin or IGF-I. Placental FTO expression was unrelated to placental FTO rs9939609 SNP. CONCLUSION: FTO is expressed in the human placenta. In a maternal parity-dependent manner, placental FTO may participate either in the control of fetal weight gain or in the partitioning between placental and fetal growth.
Subject(s)
Body Weight/physiology , Fetal Development/physiology , Placenta/physiology , Proteins/metabolism , Weight Gain/physiology , Adult , Alpha-Ketoglutarate-Dependent Dioxygenase FTO , Body Weight/genetics , Female , Fetal Blood/physiology , Fetal Development/genetics , Genotype , Humans , Placenta/metabolism , Pregnancy , Proteins/genetics , Weight Gain/geneticsABSTRACT
Sydenham's chorea is the most common cause of acquired chorea in childhood. This disorder is secondary to an autoimmune response against basal ganglia in the brain, induced by prior streptococcal infection. Chorea is a major criterion for the diagnosis of rheumatic fever and can also be the presenting feature of the disease. The incidence of rheumatic fever has been markedly decreased by improved socioeconomic conditions and increased antibiotic prescription. In the last two decades, however, this disease has reappeared and should be taken into account in the evaluation of children with movement disorders. Chorea is characterized by acute exacerbations that can cause substantial functional impairment and may warrant drug treatment. Carbamazepine has proven to be both efficacious and safe in the treatment of this condition. We present a case of rheumatic chorea, in which carbamazepine therapy produced excellent clinical response.
Subject(s)
Anticonvulsants/therapeutic use , Carbamazepine/therapeutic use , Chorea/drug therapy , Child , Female , Humans , Remission InductionABSTRACT
La corea de Sydenham es la causa más frecuente de corea adquirida en el niño. Se presenta por la existencia de una respuesta autoinmunitaria contra los núcleos de la base del cerebro, inducida tras una infección estreptocócica. La corea es uno de los criterios mayores de diagnóstico de fiebre reumática y puede ser la forma de presentación de esta entidad. La mejoría de las condiciones socioeconómicas y el tratamiento antibiótico han condicionado un descenso importante de la incidencia de fiebre reumática. En los últimos 20 años se ha producido un repunte de la enfermedad, que se ha de tener en cuenta en el diagnóstico diferencial de los trastornos del movimiento en la edad pediátrica. La corea evoluciona generalmente de forma subaguda con episodios de exacerbación que generan una importante repercusión funcional planteando la necesidad de un tratamiento farmacológico. Una de las posibilidades terapéuticas es la carbamazepina que se ha mostrado eficaz y segura en el tratamiento de esta entidad. Presentamos un caso de corea reumática que se trató con carbamazepina con una excelente respuesta clínica
Sydenham's chorea is the most common cause of acquired chorea in childhood. This disorder is secondary to an autoimmune response against basal ganglia in the brain, induced by prior streptococcal infection. Chorea is a major criterion for the diagnosis of rheumatic fever and can also be the presenting feature of the disease. The incidence of rheumatic fever has been markedly decreased by improved socioeconomic conditions and increased antibiotic prescription. In the last two decades, however, this disease has reappeared and should be taken into account in the evaluation of children with movement disorders. Chorea is characterized by acute exacerbations that can cause substantial functional impairment and may warrant drug treatment. Carbamazepine has proven to be both efficacious and safe in the treatment of this condition. We present a case of rheumatic chorea, in which carbamazepine therapy produced excellent clinical response
