Search results for "MESH: Infant"
showing 8 items of 18 documents
The genomic and clinical landscape of fetal akinesia
2020
International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA).Results: We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine novel variants. Our work identified 14 novel disease-gene associations for fetal akinesia: ADSSL1, ASAH1, ASPM, ATP2B3, EARS2, FBLN1, PRG4, PRICKLE1, ROR2, SETBP1…
Trends of incidence and survival in squamous-cell carcinoma of the anal canal in France: a population-based study.
2016
IF 2.415; International audience; Data on anal cancer epidemiology are rare. The aim of this study was to report on trends of incidence and survival for anal cancer in France before the implementation of the human papilloma virus vaccine. This analysis was carried out on 1150 squamous-cell carcinomas of the anal canal diagnosed from 1989 to 2004 in a population of 5.7 million people covered by eight population-based cancer registries. Time trends in incidence were modeled using an age-period-cohort model. Net survival rates were obtained using the recently validated unbiased Pohar-Perme estimator. The incidence of squamous-cell carcinoma of the anal canal increased from 0.2 to 0.5/100 000 p…
An international case-control study of maternal diet during pregnancy and childhood brain tumor risk: a histology-specific analysis by food group.
2009
Maternal dietary data from an international collaborative case-control study on childhood brain tumors were used to evaluate associations between histology-specific risk and consumption of specific food groups during pregnancy.Nine study centers from seven countries contributed 1218 cases and 2223 controls. Most cases were diagnosed between 1982 and 1992 and ranged in age from 0 to 19 years. Dietary consumption was measured as average grams per day.Foods generally associated with increased risk were cured meats, eggs/dairy, and oil products; foods generally associated with decreased risk were yellow-orange vegetables, fresh fish, and grains. The cured meat association was specific to astroc…
NOTCH, a new signaling pathway implicated in holoprosencephaly.
2011
International audience; Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization redundant 6qter deletions, DELTA Like 1 (DLL1), which is a ligand of NOTCH. We show that DLL1 is co-expressed in the developing chick forebrain with Fgf8. By treating chick embryos with a pharmacological inhibitor, we demonstrate that DLL1 interacts with FGF signaling pathway. Moreover, a mutation analysis of DLL1 in HPE patients revealed a three-nucleoti…
The role of taste in food acceptance at the beginning of complementary feeding
2011
article présenté lors du 18. Annual Meeting of the Society-for-the-Study-of-Ingestive-Behavior ; Pittsburgh, Pennsylvanie (Etats-Unis) - (2010-07-13 - 2010-07-17) / Rencontres; International audience; Introduction of solid foods is a major step in the establishment of eating behavior and is likely to affect children's health. However, the role of taste in acceptance of new foods, in particular in the first months of complementary feeding, is not fully understood and was the aim of the present study. Infants had to be in good health to participate (N=74). First, the infants' reactions to new foods were recorded by their parents between the ages of 5 and 7 months using a 4-point-scale ranging…
An overlooked aspect of the human breast: areolar glands in relation with breastfeeding pattern, neonatal weight gain, and the dynamics of lactation.
2012
WOS: 000301474900013; International audience; The early nursing-sucking relationship is not to be taken for granted in humans. A number of factors can either facilitate or mitigate its optimal establishment on the mother's or newborn's sides. Among these factors, a morphological feature of human mothers' breasts--the areolar glands (AG)--has been identified as potentially important. Three day-old infants display attraction during the presentation of the native secretions of the AG, suggesting that they could influence the newborn's behaviour during breastfeeding. The present study assessed this topic in a sample of 121 Caucasian mother-infant dyads. The areolae of these women were screened …
A time series study on the effects of heat on mortality and evaluation of heterogeneity into European and Eastern-Southern Mediterranean cities: resu…
2013
Background: The Mediterranean region is particularly vulnerable to the effect of summer temperature. Within the CIRCE project this time-series study aims to quantify for the first time the effect of summer temperature in Eastern-Southern Mediterranean cities and compared it with European cities around the Mediterranean basin, evaluating city characteristics that explain between-city heterogeneity. Methods: The city-specific effect of maximum apparent temperature (Tappmax) was assessed by Generalized Estimation Equations, assuming a linear threshold model. Then, city-specific estimates were included in a random effect meta-regression analysis to investigate the effect modification by several…
Impact of viable CD45 cells infused on lymphocyte subset recovery after unrelated cord blood transplantation in children
2010
International audience; We studied lymphocyte recovery in 88 children who consecutively underwent unrelated cord blood transplantation for malignant (n = 64) or nonmalignant (n = 24) diseases. All children but 3 received myeloablative conditioning regimens with pretransplant antithymocyte globulin. Median age was 5.6 years (0.1-18 years) and median follow-up was 40 months (10-136 months). The median dose of infused viable CD45(+) cells (vCD45) was 3.35 × 10(7)/kg with a ratio infused vCD45/collected total nucleated cell at 0.46. Immunologic endpoints were: time to achieve CD3(+) >500 and 1500/mm(3), CD4(+) >500/mm(3), CD8(+) >250/mm(3), CD19(+) >200/mm(3), natural killer >100/mm(3). These e…