Identification of quantitative trait loci associated with bone traits and body weight in an F2 resource population of chickens*

Bone fractures at the end of lay are a significant problem in egg-laying strains of hens. The objective of the current study was to identify quantitative trait loci (QTL) associated with bone mineralization and strength in a chicken resource population. Layer (White Leghorn hens) and broiler (Cobb-Cobb roosters) lines were crossed to generate an F2 population of 508 hens over seven hatches, and 26 traits related to bone integrity, including bone mineral density (BMD) and content (BMC), were measured. Genotypes of 120 microsatellite markers on 28 autosomal groups were determined, and interval mapping was conducted to identify QTL regions. Twenty-three tests representing three chromosomal regions (chromosomes 4, 10 and 27) contained significant QTL that surpassed the 5% genome-wise threshold, and 47 tests representing 15 chromosomes identified suggestive QTL that surpassed the 5% chromosome-wise threshold. Although no significant QTL influencing BMD and BMC were detected after adjusting for variation in body weight and egg production, multiple suggestive QTL were found. These results support previous experiments demonstrating an important genetic regulation of bone strength in chickens, but suggest the regulation may be due to the effects of multiple genes that each account for relatively small amounts of variation in bone strength

Social Ecological Factors Affecting Substance Abuse in Ghana (West Africa) Using Photovoice

Introduction: substance abuse is an important public health issue affecting West Africa; however, there is currently a dearth of literature on the actions needed to address it. The aim of this study was to assess the risks and protective factors of substance abuse in Ghana, West Africa, using the photovoice method. Methods: this study recruited and trained 10 participants in recovery from substance abuse and undergoing treatment in the greater Accra region of Ghana on the photovoice methodology. Each participant received a disposable camera to take pictures that represented the risk and protective factors pertinent to substance abuse in their communities. They were also given the opportunity to provide narratives of the pictures using pre-identified themes and the different levels of the social-ecological model and participatory action research (PAR). Results: participants identified at the individual level: ignorance; interpersonal level: family and peer pressure; organizational level: lack of regulation; community level: media, availability of drugs, cost of drugs, urbanization, slum communities and cultural factors; and policy level: lack of regulations and their enforcement. Education and beliefs were cited at the individual level; family at the interpersonal level; religion at the organizational level; organizing youth, media and narcotics anonymous at the community level; and nothing at the policy level. Conclusion: this is an exploratory study that will add to the limited body of knowledge in the scientific literature with respect to substance abuse in the country and also help develop interventions to address the respective needs of several communities in Ghana

The (cost-)effectiveness of early intervention (MBT-early) versus standard protocolized treatment (CBT) for emerging borderline personality disorder in adolescents (the EARLY study):a study protocol for a randomized controlled trial

Background: Although clinical guidelines prioritize the treatment of depression and anxiety in young persons, there is accumulating evidence that the presence of symptoms of borderline personality disorder (BPD) is associated with the limited effectiveness of these standard treatments. These findings stress the need for interventions addressing early-stage BPD in young people with presenting symptoms of anxiety and depressive disorders. The aim of this study is to investigate the (cost-)effectiveness of an early intervention programme for BPD (MBT-early) compared to first-choice psychological treatment for depression and anxiety according to Dutch treatment guidelines (CBT), in adolescents with either depression, anxiety, or both, in combination with early-stage BPD. Methods: This study is a multi-centre randomized controlled trial. A total of 132 adolescents, presenting with either depression, anxiety, or both and significant BPD features will be randomized to either MBT-early or CBT. The severity of BPD, symptoms of depression and anxiety, personality, social and academic functioning, and quality of life will be assessed at baseline, end of treatment, and at 12-, 18-, and 24-month follow-up, along with medical costs and costs of productivity losses for cost-effectiveness analyses.Discussion: This study will provide an empirical evaluation of the potential surplus value of early intervention in young people for whom treatment oriented at common mental disorders like anxiety and depression may be insufficient given their underlying personality problems. Trial registration: Netherlands Trial registration: Netherlands trial register, NL9569. Registered on June 15, 2021<br/

Healthcare recommendations for Joubert syndrome

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: Replication and functional characterization of non-coding regions

Common genetic variants 3′ of MC4R within two large linkage disequilibrium (LD) blocks spanning 288 kb have been associated with common and rare forms of obesity. This large association region has not been refined and the relevant DNA segments within the association region have not been identified. In this study, we investigated whether common variants in the MC4R gene region were associated with adiposity-related traits in a biracial population-based study. Single nucleotide polymorphisms (SNPs) in the MC4R region were genotyped with a custom array and a genome-wide array and associations between SNPs and five adiposity-related traits were determined using race-stratified linear regression. Previously reported associations between lower BMI and the minor alleles of rs2229616/Val103Ile and rs52820871/Ile251Leu were replicated in white female participants. Among white participants, rs11152221 in a proximal 3′ LD block (closer to MC4R) was significantly associated with multiple adiposity traits, but SNPs in a distal 309 LD block (farther from MC4R ) were not. In a case-control study of severe obesity, rs11152221 was significantly associated. The association results directed our follow-up studies to the proximal LD block downstream of MC4R. By considering nucleotide conservation, the significance of association, and proximity to the MC4R gene, we identified a candidate MC4R regulatory region. This candidate region was sequenced in 20 individuals from a study of severe obesity in an attempt to identify additional variants, and the candidate region was tested for enhancer activity using in vivo enhancer assays in zebrafish and mice. Novel variants were not identified by sequencing and the candidate region did not drive reporter gene expression in zebrafish or mice. The identification of a putative insulator in this region could help to explain the challenges faced in this study and others to link SNPs associated with adiposity to altered MC4R expression. © 2014 Evans et al

Proceedings of the 13th annual conference of INEBRIA

CITATION: Watson, R., et al. 2016. Proceedings of the 13th annual conference of INEBRIA. Addiction Science & Clinical Practice, 11:13, doi:10.1186/s13722-016-0062-9.The original publication is available at https://ascpjournal.biomedcentral.comENGLISH SUMMARY : Meeting abstracts.https://ascpjournal.biomedcentral.com/articles/10.1186/s13722-016-0062-9Publisher's versio

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Teachers’ Organizational Commitment: Examining the Mediating Effects of Distributed Leadership

This study examines the relation between principals'' leadership and teachers'' organizational commitment, mediated by distributed leadership. Data were collected from 1,495 teachers in 46 secondary schools. Structural equation modeling indicated that the effect of principals'' leadership on teachers'' organizational commitment is mediated by the leadership of assistant principals and teacher leaders, cooperation within the leadership team, and participative decision making of teachers. Therefore, principals should stimulate assistant principals and teacher leaders to take part in leading the school, lead the school in a collegial way with other members of the leadership team, and empower teachers to participate in school decision making

Teachers' organizational commitment: examining the mediating effects of distributed leadership

This study examines the relation between principals'' leadership and teachers'' organizational commitment, mediated by distributed leadership. Data were collected from 1,495 teachers in 46 secondary schools. Structural equation modeling indicated that the effect of principals'' leadership on teachers'' organizational commitment is mediated by the leadership of assistant principals and teacher leaders, cooperation within the leadership team, and participative decision making of teachers. Therefore, principals should stimulate assistant principals and teacher leaders to take part in leading the school, lead the school in a collegial way with other members of the leadership team, and empower teachers to participate in school decision making

Adolescent Perspective of Physical Activity and Nutrition in a Rural School Environment: Your Intervention Has an Uphill Climb

Introduction: Unhealthy eating is the most prevalent chronic disease risk factor for 12-17-year olds. Additionally, only 27% of students attain recommended physical activity guidelines. Schools play a vital role supporting healthy behaviors in adolescents. The purpose of this study was to engage adolescents regarding barriers and facilitators for a physical activity and fruit and vegetable consumption (FVC) intervention in a rural high school. Methods: High school students (n=32) participated in an evidence based physical activity curriculum and MyPlate FVC intervention structured around the Sport Education Fitness Model (SEFM). Pre-post testing assessed FVC, health related fitness components and knowledge. Physical activity levels were measured using accelerometers and FVC with MyPlate food logs. Paired sample t test were utilized to compare pretest and posttest scores. Focus groups were conducted to elicit feedback on intervention strengths, weaknesses, barriers and facilitators. Results: Significant increases were observed in three health-related fitness components and knowledge test. No change in FVC was observed. Focus group revealed students enjoyed the fitness curriculum and would engage in PA outside of class. Students weren\u27t opposed to FVC at school, but felt confined by lack of available options and concern for the preparation and handling of their fruits and vegetables. Discussion: The SEFM can be beneficial in engaging adolescents in lifetime physical activity. FVC interventions would require substantial change to the food environment and modifications to simplify FVC record keeping