Search results for "Adolescent"
showing 10 items of 6718 documents
Intraspinal stem cell transplantation for amyotrophic lateral sclerosis: Ready for efficacy clinical trials?
2016
Intraspinal stem cell (SC) transplantation represents a new therapeutic approach for amyotrophic lateral sclerosis (ALS) clinical trials. There are considerable difficulties in designing future efficacy trials, some related to the field of ALS and some that are specific to SCs or the mode of delivery. In October 2015, the most controversial points on SC transplantation were addressed during an international workshop intended to bring together international SC and ALS researchers in a public discussion on a topic for which expertise is limited. During the meeting, a discussion was started on the basic structure of the ideal clinical trial testing the efficacy and safety of SC transplantation…
Return and Disclosure of Research Results: Parental Attitudes and Needs Over Time in Pediatric Oncology.
2017
Objectives To explore parental attitudes regarding the return and disclosure of research findings in pediatric cancer trials over time. Study design Two surveys were set up to evaluate the stability of parental attitudes. One survey was carried out among 581 parents whose child was diagnosed recently (response rate, 53.5%). A second, population-based survey was set up with a time interval of 4 years between first cancer diagnosis and survey in which 1465 parents were included (response rate, 55.1%). Results Almost all surveyed parents stated a parental right to receive aggregate research results. Fifty-five percent of the parents who recently participated in trials and 62% of those asked af…
Genetic association study of childhood aggression across raters, instruments, and age
2021
AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
2018
International audience; Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut dev…
Integration of animal health and public health surveillance sources to exhaustively inform the risk of zoonosis: An application to echinococcosis in …
2020
The analysis of zoonotic disease risk requires the consideration of both human and animal geo-referenced disease incidence data. Here we show an application of joint Bayesian analyses to the study of echinococcosis granulosus (EG) in the province of Rio Negro, Argentina. We focus on merging passive and active surveillance data sources of animal and human EG cases using joint Bayesian spatial and spatio-temporal models. While similar spatial clustering and temporal trending was apparent, there appears to be limited lagged dependence between animal and human outcomes. Beyond the data quality issues relating to missingness at different times, we were able to identify relations between dog and …
Timing of complementary feeding and associations with maternal and infant characteristics: A Norwegian cross-sectional study.
2018
Norwegian Health authorities recommend solid food to be introduced between child age 4-6 months, depending on both the mother´s and infant's needs. The aim of this paper is to describe timing of complementary feeding in a current sample of Norwegian mother/infant-dyads and explore potential associations between timing of introduction to solid foods and a wide range of maternal and infant characteristics known from previous literature to influence early feeding interactions. The paper is based on data from the Norwegian randomized controlled trial Early Food for Future Health. In 2016, a total of 715 mothers completed a web-based questionnaire at child age 5.5 months. We found that 5% of the…
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
2018
Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well…
Association of leisure time physical activity and NMR-detected circulating amino acids in peripubertal girls: A 7.5-year longitudinal study
2017
AbstractThis study investigated the longitudinal associations of physical activity and circulating amino acids concentration in peripubertal girls. Three hundred ninety-six Finnish girls participated in the longitudinal study from childhood (mean age 11.2 years) to early adulthood (mean age 18.2 years). Circulating amino acids were assessed by nuclear magnetic resonance spectroscopy. LTPA was assessed by self-administered questionnaire. We found that isoleucine, leucine and tyrosine levels were significantly higher in individuals with lower LTPA than their peers at age 11 (p < 0.05 for all), independent of BMI. In addition, isoleucine and leucine levels increased significantly (~15%) fro…
Prevalence of intestinal parasites, with emphasis on the molecular epidemiology of Giardia duodenalis and Blastocystis sp., in the Paranaguá Bay, Bra…
2018
BACKGROUND: Intestinal protozoan parasites are major contributors to the global burden of gastrointestinal disease causing significant socioeconomic consequences. Children living in resource-poor settings with restricted access to water and sanitary services are particularly at risk of these infections. METHODS: A prospective, community-based, cross-sectional survey was conducted in Paraná (southern Brazil) between May 2015 and May 2016. A total of 766 stool samples were individually collected from volunteers (male/female ratio: 0.99; age range: 0-76 years) and used for investigating the presence of intestinal helminth and protozoan species by routine microscopic procedures including the Ka…
Designing food packaging for the Spanish market: Do motivations differ between involved and non-involved adolescents?
2018
Abstract This paper investigates the relationships among food choice motivations and the relevance of packaging elements (visual and informative elements) in the adolescent market. In addition, these relationships are re-tested in two different frameworks: high-involved consumers and low-involved consumers. 590 young consumers between 13 and 17 years were interviewed at the door of their public or private schools. Structural Modelling was used to test our hypotheses. The first analysis was done considering the global sample. The second one split off the sample into two groups: 351 high-involved adolescents and 239 low-involved adolescents. Our results showed, on one side, that weight contro…