Polymorphisms of the oxytocin receptor gene and overeating: the intermediary role of endophenotypic risk factors.

BACKGROUND/OBJECTIVES: Oxytocin (OXT) is an evolutionarily ancient neuropeptide with strong links to affiliative and prosocial behaviors, and the management of stress. Increases in OXT also tend to decrease food intake, especially of sweet carbohydrates. The social correlates of low OXT levels mesh with the social deficits and stress proneness identified in interpersonal models of overeating, as well as the increased appetite for highly palatable foods typically seen in chronic overeaters. The objectives of this study were to investigate links between polymorphisms of the oxytocin receptor (OXTR) gene and overeating, and to examine OXTR links with relevant endophenotypes of overeating related to reward and stress sensitivity, and to food preferences. SUBJECT/METHODS: The sample comprised 460 adults between the ages of 25 and 50 years recruited from the community, and representing a broad range of body weights. Overeating, reward and punishment sensitivity, and food preferences, were quantified as composite variables using well-validated questionnaires. In addition, seven single-nucleotide polymorphisms (rs237878, rs237885, rs2268493, rs2268494, rs2254298, rs53576, rs2268498) of the OXTR gene were genotyped. RESULTS: Analyses identified a four-marker haplotype that was significantly related to food preferences. Individual genotype analyses also found that at least one of the markers was related to each of the phenotypic variables. In addition, an empirically derived structural equation model linking genetic and phenotype variables produced a good fit to the data. CONCLUSIONS: The results of this preliminary study have demonstrated that OXTR variation is associated with overeating, and with endophenotypic traits such as sweet and fatty food preferences, and reward and punishment sensitivity. In general, the genetic findings also favor the view that overeating may be associated with relatively low basal OXT levels.

[Exercise therapy in the treatment of idiopathic adolescent scoliosis: Is it useful?]. / La kinésithérapie dans le traitement de la scoliose idiopathique de l'adolescent : utile ou pas ?

Many practitioners, pediatricians, and general practitioners prescribe physical therapy when tracking scoliosis. However, has physical therapy alone proved its efficacy in the care of the scoliosis to slow down progression? Our purpose is to report the results of a literature review on the effectiveness of rehabilitation in idiopathic scoliosis. No current study presents sufficient scientific proof to validate the efficacy of isolated exercise therapy in scoliosis. Learned societies recognize, however, the efficacy of combining conservative therapy (brace+physiotherapy) in idiopathic scoliosis. Should we then still prescribe rehabilitation without brace treatment? Although physical therapy alone does not seem effective in treating scoliosis, it can limit potential painful phenomena and be beneficial for respiratory function. The physical therapist can also teach the teenager the classic principles of hygiene of the back. It may therefore be appropriate to prescribe physical therapy, but the principles and objectives must be explained to the patient and family in light of current evidence-based medicine.

McArdle's disease in childhood: report of a new case.

McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.