Placental FTO expression relates to fetal growth.

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.

Corea de Sydenham: presentación de un caso tratado con carbamazepina con excelente respuesta clínica / Sydenham’s chorea: report of a case treated with carbamazepine with excellent clinical response

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

Importancia diagnóstica de los signos de hipocinesia fetal en la atrofia muscular espinal de presentación neonatal / Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset

Introducción: La atrofia muscular espinal (AME) se caracteriza por la degeneración precoz de las neuronas motoras del asta anterior, cuya forma de presentación neonatal más frecuente y grave es la enfermedad de Werdnig-Hoffmann. Las características neurológicas y genéticas de la AME son bien conocidas, siendo el objetivo de este estudio analizar sus características dismorfológicas. Pacientes y métodos: En este trabajo se presenta el análisis de los 10 casos de AME identificados entre 27.864 recién nacidos consecutivos con defectos congénitos registrados en el Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) desde abril de 1976 a diciembre de 1998. Así mismo, se expone un caso clínico de AME neonatal en el que se asociaban los signos clásicos de la secuencia deformativa de hipocinesia fetal. Resultados: La estimación mínima de la prevalencia de AME con defectos congénitos en nuestro medio es de 0,32 por 100.000 recién nacidos vivos. Encontramos una relación niños:niñas de 3,5. Los defectos congénitos asociados con mayor frecuencia en nuestra población de AME neonatal se encuentran localizados en extremidades (principalmente artrogriposis), cara y tórax, y que pueden ser explicados por la hipomovilidad fetal intrínseca secundaria a la enfermedad neuromuscular. Las características de la secuencia deformativa de hipocinesia fetal se describen en el caso clínico presentado: parto distócico, cordón umbilical corto, polihidramnios, retraso del crecimiento intrauterino, malformaciones craneofaciales, anomalías esqueléticas con contracturas articulares múltiples, hipoplasia pulmonar, etc. Conclusiones: Es importante reconocer los defectos congénitos asociados a las enfermedades neuromusculares, debido a que en ocasiones los signos dismorfológicos pueden ser más llamativos que los neurológicos en el período neonatal. Y, en concreto, la AME neonatal que, en su mayor espectro, se manifiesta con las características de una secuencia deformativa de hipocinesia fetal (AU)

[Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset]. / Importancia diagnóstica de los signos de hipocinesia fetal en la atrofia muscular espinal de presentación neonatal.

INTRODUCTION: Spinal muscular atrophy (SMA) is characterized by early degeneration of anterior horn cells. The most frequent and severe type of neonatal onset is Werdnig-Hoffmann disease. The neurologic and genetic characteristics of SMA are well-known. The aim of this study was to analyze the dysmorphologic features of this disease. PATIENTS AND METHODS: We present an analysis of 10 cases of SMA identified among 27,864 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and December 1998. We also report a clinical case of neonatal SMA presenting the classical signs of fetal hypokinesia deformation sequence. RESULTS: The minimum estimation of the prevalence of SMA with congenital defects in our population is 0.32 per 100,000 live births. We found a male-to-female ratio of 3.5. The most frequently associated congenital defects in our population of neonatal SMA were located in the extremities (mainly arthrogryposis), face and thorax and could be explained by intrinsic fetal hypomobility secondary to the neuromuscular disorder. The characteristics of fetal hypokinesia deformation sequence are discussed in the case report presented herein: dystocic delivery, short umbilical cord, polyhydramnios, intrauterine growth retardation, craniofacial malformations, skeletal abnormalities with multiple articular contractures, pulmonary hypoplasia, etc. CONCLUSIONS: It is important to recognize the congenital defects associated with neuromuscular disorders, because dysmorphologic features are sometimes more marked than neurologic features in the neonatal period and because of the wide spectrum of congenital defects in neonatal SMA that result in a fetal hypokinesia deformation sequence.

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.

3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L-serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3-phosphoglycerate dehydrogenase deficiency is a treatable congenital error that probably leads to West syndrome.