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PURPOSE: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene. METHODS: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype-phenotype correlations. RESULTS: The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, or vitelliform macular dystrophy (11%), central areolar choroidal dystrophy (28%), pseudo-Stargardt pattern dystrophy (41%), and retinitis pigmentosa (25%). Symptom onset was earlier in retinitis pigmentosa as compared with pseudo-Stargardt pattern dystrophy (34 vs 44 years; P = 0.004). The median visual acuity was 0.18 logMAR (interquartile range, 0-0.54 logMAR) and 0.18 logMAR (interquartile range 0-0.42 logMAR) in the right and left eyes, respectively. ERG showed a significantly reduced amplitude across all components (P < 0.001) and a peak time delay in the light-adapted 30-Hz flicker and single-flash b-wave (P < 0.001). Twenty-two variants were novel. The central areolar choroidal dystrophy phenotype was associated with 13 missense variants. The remaining variants showed marked phenotypic variability. CONCLUSIONS: We described six distinct FAF phenotypes associated with variants in the PRPH2 gene. One FAF phenotype may have multiple ERG phenotypes, demonstrating a discordance between structure and function. Given the vast spectrum of PRPH2 disease our findings are useful for future clinical trials.

Enterprising students who understand the work environment are considered more employable. It is accepted that higher-education has a responsibility to produce career-ready-graduates. Practicum experience provides a critical role in this preparation. This study describes the development and implementation of the WIL instrument and WIL experience to assess the perceived skill development of students (n=19). This research utilized three data capture points: (1) employability skills cluster matrix-self-assessment tool (ESCM-SAT); (2) industry feedback from supervisors to develop a deeper understanding of the value of WIL; (3) students used the Gibbs reflective cycle (Gibbs 1988). There were improvements in all skills clusters, main gains were in career management (p<0.01). Supervisor feedback gave direction for improvement for; communication, preparation and organization skills. Student reflection suggests career management skills were strengthened, confidence increased, as did their value of academics. The ESCM-SAT, industry feedback and student reflection were deemed a suitable combination to measure the WIL experiences from a student perspective.

This study explored the association between autistic-like traits in young adults and dietary intake in early childhood in the Gen2 Raine Study cohort. Data were available from 811 participants at years 1, 2 and 3 for the assessment of dietary intake, and at year 20 for measurement of autistic-like traits. Results showed as autistic-like traits increased, total food variety, core food variety and dairy variety decreased (p < 0.05), with a lower consumption of citrus fruits and yoghurt (both p = 0.04). As autistic-like traits increased, diet quality decreased, this trend was significant at 2 years (p = 0.024). Our results suggest that young adults with higher autistic-like traits were more likely to have had lower food variety and diet quality in early childhood.

This study assessed the quantity and quality of food consumed by Australian Capital Territory and Perth women living in poverty from July to October 2017. Sixty-six women, recruited through charitable food organizations, participated in one-on-one interviews and 24-hr dietary recall. Overall, diet quality was poor. Daily energy intakes ranged between 96 kJ-11450 kJ. 75% of women consumed below the minimum energy requirement for their age. Daily serve recommendations and Estimated Average Requirements for calcium, iron and potassium were not met. Urgent action is needed from government, health, food, and community sectors to address the ongoing challenges faced by women experiencing food insecurity. [ABSTRACT FROM AUTHOR]

Building on the success of the SNAC (Supporting Nutrition Australian Childcare) community, a comprehensive online programme SNACPlus provided professional development (PD) and resources to embed nutrition curriculum and supportive food environments in Early Childhood Education and Care (ECEC) services. Process and impact evaluation were conducted to determine the effectiveness of this intervention programme. Participants were recruited from nine long-day-care (LDC) centres and the current SNAC membership list. Resource access was monitored using web analytics. Changes in nutrition knowledge, attitudes, behaviours and food environment were measured using baseline (comparator group, n=100) and post-intervention surveys (intervention group, n=80), contextualised through open-ended questions. The majority of comparator participants perceived nutritious food provision as important yet lacked confidence about estimating serve sizes. Adjusting for years of experience, the intervention significantly influenced educators' confidence about servings of grains (p=0.034), dairy (p=0.015), low fat meat (p=0.014) and food group servings estimation knowledge (p<0.001). Intervention participants accessed credible websites and health professionals for nutrition knowledge; reported SNACPlus positively influenced changes to food service and role-modelling; and knowledge, attitudes and behaviours improved at organisational and individual levels. SNACPlus provides online nutrition curriculum resources that positively impacted knowledge, attitudes and behaviours of ECEC staff and influenced systematic changes in food environments. Practice and policy implementation that includes all systems within the early years setting will help initiate and maintain healthy food environments.

This study explored the association between autistic-like traits in young adults and dietary intake in early childhood in the Gen2 Raine Study cohort. Data were available from 811 participants at years 1, 2 and 3 for the assessment of dietary intake, and at year 20 for measurement of autistic-like traits. Results showed as autistic-like traits increased, total food variety, core food variety and dairy variety decreased (p < 0.05), with a lower consumption of citrus fruits and yoghurt (both p = 0.04). As autistic-like traits increased, diet quality decreased, this trend was significant at 2 years (p = 0.024). Our results suggest that young adults with higher autistic-like traits were more likely to have had lower food variety and diet quality in early childhood., Author(s): Catherine Panossian [sup.1] , Philippa Lyons-Wall [sup.1] , Andrew Whitehouse [sup.2] , Wendy H. Oddy [sup.3] , Johnny Lo [sup.4] , Jane Scott [sup.5] , Therese A. O'Sullivan [sup.1] [...]

Tennis players' success relies on tennis skills, such as groundstrokes and serves, and physical attributes, such as strength, speed and endurance. This study aimed to determine if players' tennis skills and physical attributes are influenced by time of day, chronotype or sleep–wake behaviour (SWB). Twelve male tennis players (age (years): 28.17 ± 7.85) competing in state-level competitions wore a wrist-worn activity monitor (GT3X, Actigraph) and completed a modified version of the Consensus Sleep Diary to measure SWB. The Chalder Fatigue Scale and Morningness and Eveningness Questionnaire were used to measure players' fatigue and preferred chronotype. Mid-sleep with a sleep correction was used to determine players' current chronotype. After the baseline period, players were tested at 8:00 am, 2:00 pm and 8:00 pm, with the order of testing sessions randomised for each player. Testing sessions were separated by at least 48 hours. Players' groundstrokes, serve speed, agility, overhead medicine ball throw and Hit and Turn Test performance were measured in each session. General linear modelling revealed that backhand consistency was less in the evening compared to the morning by 17% (p = 0.020) and afternoon by 15% (p = 0.040). Maximal service velocity was less in the evening compared to the afternoon by 10.5 km/h (p = 0.041). Chronotype did not influence tennis skills or physical performance. Average and maximal backhand velocities were reduced for every hour that time at lights out, and sleep-onset time was postponed. Tennis skills, but not physical performance tests, were influenced by time of day and SWB. [ABSTRACT FROM AUTHOR]

Tennis match performance is often evaluated by a player's internal (heart rate) and external (match analytics) outcomes. Numerous factors could influence these outcomes, including the time of day, which may be advantageous or not depending on a player's chronotype. This study aimed to determine the influence time of day, chronotype and sleep–wake behaviour (SWB) had on internal and external outcomes of tennis matches. Twelve state-level male tennis players, with a mean age of 28 ± 7, stature of 183 ± 7 and body mass of 86.6 ± 17.4 wore an actigraph device and completed a sleep diary for the study duration. Based on rankings, players were paired against the same opponent and completed three tennis matches at 8:00 am, 2:00 pm and 8:00 pm, separated by a minimum of 48 h. Fatigue and chronotype, measured by the Fatigue Severity Scale, Morningness Eveningness Questionnaire and midsleep time, were assessed before matches; motivation, measured by the Intrinsic Motivation Inventory, was assessed after matches. During matches, players wore global positioning systems and heart rate monitors; the match analytics and players' rate of perceived exertion were recorded. Increased unforced errors and decreased winners and forced errors were observed in the evening matches. Decreased total distance and rate of perceived exertion during the second set were found for the evening compared to morning and afternoon matches. Chronotype and sleep–wake behaviour had trivial to weak associations with internal and external outcomes. These results indicate that players and coaches should consider the match times when training for future tournaments. [ABSTRACT FROM AUTHOR]