La Rhythmique Musicale des. Troubadours et des Trouveres

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Evaluating an In-School Drug Prevention Program for At-Risk Youth

This study assessed an in-school program aimed at preventing or reducing drug use and other deviant behavior in a sample of 167 at-risk youth in their transition years. Over 10 weeks, 17 one-hour sessions were offered to youth who were identified using a self-report questionnaire (at 9 schools with 12 control sites in Ontario, Canada). Repeated measures analysis of covariance was used to assess program impact at posttest and six-month followup. Program participants, compared with the control group, reported less frequent drinking

Engagement of Fathers in Parent Group Interventions for Children with Congenital Zika Syndrome: A Qualitative Study.

We aimed to explore the engagement of fathers in a community-based group intervention (Juntos) for children with congenital Zika syndrome (CZS) and their caregivers in Brazil. Six Juntos groups were facilitated from August 2017 to May 2018. We conducted a qualitative study to evaluate the feasibility and acceptability of the intervention for fathers of children with CZS. Methods included participant observation, focus group discussions, and semi-structured interviews of fathers with a child enrolled in the program. Data collected were transcribed, coded and thematically analyzed to explore father preference for, and beliefs about the intervention and to assess potential barriers and enablers to their involvement. Forty-nine families (61 participants) enrolled, of whom 20% (12/61) were fathers. Seven (58%) fathers attended more than 7 out of 10 sessions. The content of Juntos was found to be acceptable to those fathers who attended. Participation in the group offered fathers the opportunity to share experiences of caring for their child and demonstrate their importance as care agents. Work commitments, and the view of mothers as primary caregivers were barriers to engagement of fathers. Facilitators to engagement included a presentation of clear objectives for fathers' involvement and the opportunity to learn a practical skill related to caring for their child. A better understanding of the perspectives of fathers is crucial to help increase their involvement in parenting interventions

[The need to act together in every way possible: inter-sector action in health and education for children living with the congenital Zika syndrome].

The experience with an intervention program conducted in an educational institution and targeted to families of children with congenital Zika syndrome, which includes multiple disabilities, revealed the challenges and strides with the entry of these families in the school system. This article aimed to explore the findings from a study conducted after the conclusion of an intervention program, using semi-open interviews with professional staff at the institution and the possible contributions towards establishing inter-sector relations aimed at school inclusion of children with disabilities. A change was seen, as a result of the program, in the relationship between the families and the professionals at the educational institution, whereby the families had room to voice their fears and discuss the school's role in the lives of their children with disabilities. The professionals thus came to see the families taking a more active stance. This experience can favor other services and municipalities that seek school inclusion for children and adolescents with disabilities, as well as their social inclusion and that of their families

Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

Purpose The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of non-syndromic individuals with AVSD. Methods: Whole exome sequencing was performed in 81 unrelated probands with AVSD to identify potentially causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD. Results: A significant enrichment of rare and rare/damaging variants was identified in the gene set, compared with controls (odds ratio 1.52, 95% confidence interval 1.35–1.71, p = 4.8 x 10-11). The enrichment was specific to AVSD probands compared with a non-AVSD cohort with tetralogy of Fallot (odds ratio 2.25, 95% confidence interval 1.84-2.76, p = 2.2 x 10-16). Six genes (NIPBL, CHD7, CEP152, BMPR1a, ZFPM2 and MDM4) were enriched for rare variants in AVSD compared to controls, including three syndrome-associated genes (NIPBL, CHD7, CEP152). The findings were confirmed in a replication cohort of 81 AVSD probands. Conclusion: Mutations in genes with strong biological relevance to AVSD, including syndrome-associated genes, can contribute to AVSD even in those with isolated heart disease. The identification of a gene set associated with AVSD will facilitate targeted genetic screening in this cohort

Plasma Apolipoprotein Levels Are Associated with Cognitive Status and Decline in a Community Cohort of Older Individuals

<div><h3>Objectives</h3><p>Apolipoproteins have recently been implicated in the etiology of Alzheimer’s disease (AD). In particular, Apolipoprotein J (ApoJ or clusterin) has been proposed as a biomarker of the disease at the pre-dementia stage. We examined a group of apolipoproteins, including ApoA1, ApoA2, ApoB, ApoC3, ApoE, ApoH and ApoJ, in the plasma of a longitudinal community based cohort.</p> <h3>Methods</h3><p>664 subjects (257 with Mild Cognitive Impairment [MCI] and 407 with normal cognition), mean age 78 years, from the Sydney Memory and Aging Study (MAS) were followed up over two years. Plasma apolipoprotein levels at baseline (Wave 1) were measured using a multiplex bead fluorescence immunoassay technique.</p> <h3>Results</h3><p>At Wave 1, MCI subjects had lower levels of ApoA1, ApoA2 and ApoH, and higher levels of ApoE and ApoJ, and a higher ApoB/ApoA1 ratio. Carriers of the apolipoprotein E ε4 allele had significantly lower levels of plasma ApoE, ApoC3 and ApoH and a significantly higher level of ApoB. Global cognitive scores were correlated positively with ApoH and negatively with ApoJ levels. ApoJ and ApoE levels were correlated negatively with grey matter volume and positively with cerebrospinal fluid (CSF) volume on MRI. Lower ApoA1, ApoA2 and ApoH levels, and higher ApoB/ApoA1 ratio, increased the risk of cognitive decline over two years in cognitively normal individuals. ApoA1 was the most significant predictor of decline. These associations remained after statistically controlling for lipid profile. Higher ApoJ levels predicted white matter atrophy over two years.</p> <h3>Conclusions</h3><p>Elderly individuals with MCI have abnormal apolipoprotein levels, which are related to cognitive function and volumetric MRI measures cross-sectionally and are predictive of cognitive impairment in cognitively normal subjects. ApoA1, ApoH and ApoJ are potential plasma biomarkers of cognitive decline in non-demented elderly individuals.</p> </div

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10 CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 nea

Reproducible research in linguistics: A position statement on data citation and attribution in our field

This article is a position statement on reproducible research in linguistics, including data citation and attribution, that represents the collective views of some 41 colleagues