La composition corporelle des adolescentes. La mode et quelques répercussions cliniques

Les changements biologiques et psychologiques qui surviennent au moment de la croissance fragilisent l’enfant et peuvent favoriser des facteurs de risque durant cette période de maturation et dans sa future vie d’adulte. L’influence de la publicité et la pression sociale font naître, essentiellement chez les filles, un nouveau prototype corporel où l’extrême maigreur n’est plus l’exception comme c’était le cas dans les périodes précédentes. Pour détecter les possibles risques ou maladies causés par de telles modifications, 134 adolescentes de la ville de Madrid et de sa banlieue, âgées de 15 à 17 ans, ont été échantillonnées. Les participantes connaissaient les objectifs de l’étude et y ont participé volontairement avec le consentement parental. Deux sous-échantillons contrastés ont été comparés, en fonction de l’indice de masse corporelle (groupes au-dessous et au-dessus de la limite du dixième percentile somatique, soit IMC = 17). On constate une très basse ingestion de calories (900 Kcal/jours) pour les filles avec un IMC < 17, et une diminution de la proportion recommandée d’hydrates de carbone. On remarque également une prise alimentaire irrégulière et des comportements alimentaires à risque. La composition corporelle est modifiée par rapport aux normes habituelles chez la femme, ce qui pourrait être la cause de 77.7 % des aménorrhées et de l’androgénicité dans la distribution des graisses.The biological and psychological changes which occur during growth stages render children fragile, which can favour risk factors during the period of maturation as well as later on in adult life. The influence of advertising and social pressure is particularly strong in the case of girls, and a new prototype of body proportion has emerged in which extreme thinness is no longer the exception as it has been in previous periods. In order to detect the possible risks and diseases caused by such modifications, 134 adolescent girls in the city of Madrid and its outskirts, aged 15 to 17 years of age, were sampled. The participants understood the objectives of the study and participated voluntarily with parental consent. Two contrasting sub-samples were compared, according to the index of body mass (groups below and above the limit of the somatic tenth percentile, that is BMI = 17). A very low nutritional intake was observed (900 Kcal/day) for the girls with a BMI < 17, as well as a decrease in the recommended proportion of carbohydrates. Irregularity of food intake and risky food-related behaviours were noted. The body composition was modified in comparison to female body norms, which could be the cause of 77% of amenorrhoeas and of androgenicity in fat distribution

Estimation of allele frequency and association mapping using next-generation sequencing data

<p>Abstract</p> <p>Background</p> <p>Estimation of allele frequency is of fundamental importance in population genetic analyses and in association mapping. In most studies using next-generation sequencing, a cost effective approach is to use medium or low-coverage data (e.g., < 15<it>X</it>). However, SNP calling and allele frequency estimation in such studies is associated with substantial statistical uncertainty because of varying coverage and high error rates.</p> <p>Results</p> <p>We evaluate a new maximum likelihood method for estimating allele frequencies in low and medium coverage next-generation sequencing data. The method is based on integrating over uncertainty in the data for each individual rather than first calling genotypes. This method can be applied to directly test for associations in case/control studies. We use simulations to compare the likelihood method to methods based on genotype calling, and show that the likelihood method outperforms the genotype calling methods in terms of: (1) accuracy of allele frequency estimation, (2) accuracy of the estimation of the distribution of allele frequencies across neutrally evolving sites, and (3) statistical power in association mapping studies. Using real re-sequencing data from 200 individuals obtained from an exon-capture experiment, we show that the patterns observed in the simulations are also found in real data.</p> <p>Conclusions</p> <p>Overall, our results suggest that association mapping and estimation of allele frequencies should not be based on genotype calling in low to medium coverage data. Furthermore, if genotype calling methods are used, it is usually better not to filter genotypes based on the call confidence score.</p

Health-related quality of life in transplant ineligible newly diagnosed multiple myeloma patients treated with either thalidomide or lenalidomide-based regimen until progression: a prospective, open-label, multicenter, randomized, phase 3 study

Data on the impact of long term treatment with immunomodulatory drugs (IMiD) on health-related quality of life (HRQoL) is limited. The HOVON-87/NMSG18 study was a randomized, phase 3 study in newly diagnosed transplant ineligible patients with multiple myeloma, comparing melphalan-prednisolone in combination with thalidomide or lenalidomide, followed by maintenance therapy until progression (MPT-T or MPR-R). The EORTC QLQ-C30 and MY20 questionnaires were completed at baseline, after three and nine induction cycles and six and 12 months of maintenance therapy. Linear mixed models and minimal important differences were used for evaluation. 596 patients participated in HRQoL reporting. Patients reported clinically relevant improvement in global quality of life (QoL), future perspective and role and emotional functioning, and less fatigue and pain in both arms. The latter being of large effect size