Effects of a Physical Education Supportive Curriculum and Technological Devices on Physical Activity

The purpose of this study was to examine the effects of a physical education supportive curriculum and technological devices, heart rate monitor (HRM) and pedometer (PED), on physical activity. A single-subject ABAB research design was used to examine amount and level of participation in physical activity among 106 suburban fourth and fifth graders during physical education class. A curriculum, which was pedagogically centered on the use of the technological devices, was also developed and studied. Six children from each group and the physical education teacher were interviewed. The results of a one-way ANCOVA indicated group differences between the supportive curriculum and technology for HRMs, PEDs, and increased physical activity

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families) harboring the PRPH2 c.828+3A>T mutation, had phenotype analysis by fundus appearance, electrophysiology, and visual fields. The PRPH2 haplotypes in trans were sequenced for potential modifying variants and generalized estimating equations (GEE) used for statistical analysis.ResultsSeveral distinct phenotypes caused by the PRPH2 c.828+3A>T mutation were observed and fell into two clinical categories: Group I (N = 44) with mild pattern dystrophies (PD) and Group II (N = 18) with more severe cone-rod dystrophy (CRD), retinitis pigmentosa (RP), and central areolar chorioretinal dystrophy (CACD). The PRPH2 Gln304-Lys310-Asp338 protein haplotype in trans was found in Group I only (29.6% vs. 0%), whereas the Glu304-Lys310-Gly338 haplotype was predominant in Group II (94.4% vs. 70.4%). Generalized estimating equations analysis for PD versus the CRD/CACD/RP phenotypes in individuals over 43 years alone with the PRPH2 haplotypes in trans and age as predictors, adjusted for correlation within families, confirmed a significant effect of haplotype on severity (P = 0.03) with an estimated odds ratio of 7.16 (95% confidence interval [CI] = [2.8, 18.4]).ConclusionsThe PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans; the odds of having the CACD/RP-like phenotype (versus the PD phenotype) are 7.16 times greater with a Glu304-Lys310-Gly338 haplotype in trans. Further functional studies of the modifying haplotypes in trans and PRPH2 splice variants may offer therapeutic targets

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree with apparent dominant retinitis pigmentosa.MethodsVariant identification and analysis of three affected members (mother and two affected offspring) was performed via exome sequencing. Parental samples of the index case were used to establish inheritance. Follow-up testing of 94 additional retinitis pigmentosa pedigrees was performed via retrospective analysis or Sanger sequencing.Results and conclusionsA total of 136 high quality coding variants in 123 genes were identified which are consistent with autosomal dominant disease. Of these, one of the strongest genetic and functional candidates is a c.269A>G (p.Tyr90Cys) variant in ARL3. Follow-up testing established that this variant occurred de novo in the index case. No additional putative causal variants in ARL3 were identified in the follow-up cohort, suggesting that if ARL3 variants can cause adRP it is an extremely rare phenomenon

Histone Modifications within the Human X Centromere Region

Human centromeres are multi-megabase regions of highly ordered arrays of alpha satellite DNA that are separated from chromosome arms by unordered alpha satellite monomers and other repetitive elements. Complexities in assembling such large repetitive regions have limited detailed studies of centromeric chromatin organization. However, a genomic map of the human X centromere has provided new opportunities to explore genomic architecture of a complex locus. We used ChIP to examine the distribution of modified histones within centromere regions of multiple X chromosomes. Methylation of H3 at lysine 4 coincided with DXZ1 higher order alpha satellite, the site of CENP-A localization. Heterochromatic histone modifications were distributed across the 400–500 kb pericentromeric regions. The large arrays of alpha satellite and gamma satellite DNA were enriched for both euchromatic and heterochromatic modifications, implying that some pericentromeric repeats have multiple chromatin characteristics. Partial truncation of the X centromere resulted in reduction in the size of the CENP-A/Cenp-A domain and increased heterochromatic modifications in the flanking pericentromere. Although the deletion removed ∼1/3 of centromeric DNA, the ratio of CENP-A to alpha satellite array size was maintained in the same proportion, suggesting that a limited, but defined linear region of the centromeric DNA is necessary for kinetochore assembly. Our results indicate that the human X centromere contains multiple types of chromatin, is organized similarly to smaller eukaryotic centromeres, and responds to structural changes by expanding or contracting domains

The Deepwater Horizon oil spill marine mammal injury assessment

The studies described here were conducted as part of the DWH NRDA and included scientists funded through NOAA, other federal and state Trustees, and BP PLC. The John H. Prescott Marine Mammal Rescue Assistance Grant Program and the Marine Mammal Health and Stranding Response Program provided funding for this work in addition to the funding from the DWH NRDA.From 2010 to 2015, a team of scientists studied how the BP Deepwater Horizon (DWH) oil spill affected marine mammals inhabiting the northern Gulf of Mexico, as part of the DWH Natural Resource Damage Assessment process. The scientists conducted the assessment on behalf of the DWH co-Trustees, with the purpose of investigating whether marine mammals were exposed to DWH oil and what types of injuries they suffered as a result of the DWH oil exposure, and then quantifying those injuries to determine the appropriate amount of restoration required to offset the injuries. Photographs, aerial surveys, spatial analyses of the co-occurrence between surface slick and cetacean populations, and chemical fingerprinting of oiled and stranded carcasses all confirm that at least 15 cetacean species were exposed to the DWH surface slick. Cetaceans that encountered the slick likely inhaled, aspirated, ingested, and/or adsorbed oil. In this Theme Section, marine mammal biologists, statisticians, veterinarians, toxicologists, and epidemiologists describe and quantify the adverse effects of this oil exposure. Taken together, this combination of oil spill dynamics, veterinary assessments, pathological, spatial, and temporal analyses of stranded animals, stock identification techniques, population dynamics, and a broad set of coordinated modeling efforts is an unprecedented assessment of how a major oil spill impacted a large and complex marine mammal community and their connected habitats.Publisher PDFPeer reviewe

Are Preserved Farms Actively Engaged in Agriculture and Conservation?

This study addresses the question of whether farms enrolled in land preservation programs are actively engaged in agricultural or conservation activities. Data are drawn from an original survey administered to preserved farm owners in the states of New Jersey, Maryland, and Delaware in 2011. “Actively engaged” is defined as investment in conservation projects, buildings, equipment, or irrigation since the land was preserved. Affirmative answers to the survey’s investment questions range from a low of 19% for irrigation to a high of 69% for equipment. Special attention was paid to differences between lifestyle farmers and small and large commercial farmers, which are classified using the USDA typology developed in 2000. Regression analysis estimates differences in investment behavior across these groups as well as farm tenure categories, controlling for farm size, program/state location, and demographic variables. Only owners who employ tenants or managers exclusively on their land were found to invest significantly less than the largest professional farmers, and they did so across all four types of investment. This study’s findings support preservation goals articulated by legislators and program administrators, because (1) agricultural and land stewardship investments appear to be widespread on preserved farms, partly due to administrators’ preference for larger parcels, (2) there is no evidence that “hobby farmers” are disproportionately attracted to farmland preservation programs – in fact the opposite seems to be true – while those that exist in our sample behave similarly to the largest commercial farmers, (3) although tenant farming is associated in the sample with lower rates of investment, it is less common on preserved farms than on all farms in the three study states. The matter of land tenure, highlighted in this as in other studies, has not yet become a primary focus of either farm-behavioral research or state agricultural policy

A lack of empirical evidence on sport officials’ mental health: a scoping review

Sport officials—who are essential to organized sport—are tasked with applying competition rules, maintaining fair competitions, and ensuring athlete safety. However, sport officials experience stress, burnout, and non-accidental violence, with incidence of these events increasing worldwide. This has led to rising attrition rates and recruitment issues among sport officials, with many sport organizations concerned for their operational capacity. Possibly, the effects of stress, burnout, and non-accidental violence contribute to sport officials’ negative mental health outcomes. To develop a clear understanding of how sport officials’ mental health is affected by their occupation, it is necessary to identify the mental health outcomes they experience, and to what extent. The purpose of this scoping review was to identify and examine the empirical research surrounding sport officials’ mental health. Using Arksey and O’Malley’s (2005) framework, 1206 articles were identified across three databases: PubMed, Web of Science, SportDiscus, PsycINFO. Following screening, 18 studies met the inclusion criteria for exploring sport officials’ mental health. Participants (N = 7941) in the included studies were mainly European male soccer and basketball referees. Most studies utilized quantitative inquiry (n = 15) rather than qualitative methods (n = 2) or framework development (n = 1). The research demonstrates that sport officials frequently experience negative mental health outcomes including anxiety, depression, burnout, lower mental health literacy, and high levels of stigmatization. These outcomes are influenced by gender, age, and experience. Researchers should continue examining how this profession impacts sport officials’ mental health and implement effective management strategies

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

UNLABELLED: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease manifesting as impaired night vision and peripheral vision loss that progresses to legal blindness. Although several trials of ocular gene therapy for XLRP have been conducted or are in progress, there is currently no approved treatment. In July 2022, the Foundation Fighting Blindness convened an expert panel to examine relevant research and make recommendations for overcoming the challenges and capitalizing on the opportunities in conducting clinical trials of RPGR-targeted therapy for XLRP. Data presented concerned RPGR structure and mutation types known to cause XLRP, RPGR mutation-associated retinal phenotype diversity, patterns in genotype/phenotype relationships, disease onset and progression from natural history studies, and the various functional and structural tests used to monitor disease progression. Panel recommendations include considerations, such as genetic screening and other factors that can impact clinical trial inclusion criteria, the influence of age on defining and stratifying participant cohorts, the importance of conducting natural history studies early in clinical development programs, and the merits and drawbacks of available tests for measuring treatment outcomes. We recognize the need to work with regulators to adopt clinically meaningful end points that would best determine the efficacy of a trial. Given the promise of RPGR-targeted gene therapy for XLRP and the difficulties encountered in phase III clinical trials to date, we hope these recommendations will help speed progress to finding a cure. TRANSLATIONAL RELEVANCE: Examination of relevant data and recommendations for the successful clinical development of gene therapies for RPGR-associated XLRP