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This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation., Author(s): R. Royston [sup.1] , C. Oliver [sup.1] , J. Moss [sup.1] , D. Adams [sup.1] [sup.2] , K. Berg [sup.1] [sup.3] , C. Burbidge [sup.1] [sup.4] , P. Howlin [...]

The basic form of luminescence dose response is investigated, with the aim of developing a single function to account for the appearance of linear, superlinear, sublinear, and supralinear behaviors and variations in saturation signal level and rate. A function is assembled based on the assumption of first order behavior in different major factors contributing to measured luminescence-dosimetric signals. Different versions of the function are developed for standardized and non-dose-normalized responses. Data generated using a two trap two recombination center model and experimental data for natural quartz are analyzed to compare results obtained using different signals, measurement protocols, pretreatment conditions, and radiation qualities. The function well describes a range of dose dependent behavior, including sublinear, superlinear, supralinear, and non-monotonic responses and relative response to α and β radiation, based on change in relative recombination and trapping probability affecting signals sourced from a single electron trap. [ABSTRACT FROM AUTHOR]

Abstract: Background and Aims: The climate change‐related acceleration of grape (Vitis vinifera L.) berry ‘sugar‐ripeness’ requires an improved understanding of the relationship between berry sugar concentration and wine flavour and aroma. Methods and Results: Peduncle‐girdling of Shiraz bunches at three post‐veraison stages identified sugar‐related changes to grape metabolites associated with ripening and to wine volatile compounds. Restricting sugar uptake at 10–14°Brix had severe effects on the accumulation of eight amino acids, cytokinins and, by inference, the cellular redox status. Consequently, wine made from these berries displayed changes to a large number of compounds and compound classes, in particular esters, higher alcohols and C13‐norisoprenoids, which would potentially result in a substantial difference in wine flavour and aroma. When grapes reached 18°Brix, however, peduncle‐girdling caused only minor modification of berry amino acid concentration and wine volatile composition. By comparing wines made from berries of peduncle‐girdled bunches with those made from berries where ripening was delayed by auxin treatments, a small group of volatile compounds was identified that universally responds to treatments delaying sugar accumulation in grapes. Conclusions: The findings suggest that once berries have reached a modest sugar concentration, prevention of further sugar uptake even by an invasive treatment, such as girdling, has minimal impact on wine volatile composition. Significance of the Study: This study confirms that the manipulation of sugar accumulation can mitigate climate change‐related acceleration of sugar‐ripeness in warm to hot wine regions while maintaining the volatile composition of wine. [ABSTRACT FROM AUTHOR]

Background: The incidence of thyroid cancer has increased exponentially in recent decades. At the same time, there is a growing concern surrounding the overdiagnosis of indolent thyroid cancer, leading to invasive and potentially unnecessary interventions that can significantly impact young patients' lives. Yet, the experiences of survivors of thyroid cancer have been largely understudied. The purpose of this study was to explore the experiences of survivors of early-onset thyroid cancer., Methods: The qualitative research design of hermeneutic phenomenology guided this study. Participants completed a demographic survey and semi-structured interview that was subsequently transcribed verbatim and analyzed using reflexive thematic analysis., Results: Thirty-six survivors of thyroid cancer (83% female, median age at diagnosis: 37.1 years, median age at interview: 43.5 years) participated. Participants' experiences were characterized by two themes: (1) reconciling the meaning of the "c" word (cancer) as a dangerous and life-threatening diagnosis with lived experience of thyroid cancer and (2) thyroid cancer leaves patients with lifelong physical and emotional scars., Conclusions: Survivors of early-onset thyroid cancer experience significant short and late effects on their physical and psychosocial well-being. Survivors shared some of the difficulties of having to reconcile what they were told was a "good cancer" and their previously held beliefs of cancer, including feeling lost in the healthcare system and like they could not access services or be impacted because they had been told they had "good cancer." Increased communication of risks and acknowledgement of the perceptions surrounding cancer is needed to help patients make better informed decisions and feel supported throughout their thyroid cancer journey. Gaps in care pathways, especially adjustments post-treatment, should be filled to help support these survivors., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: The aim of this feasibility study was to adapt and model a behavioural intervention for anxiety with autistic adults with moderate to severe intellectual disabilities., Method: Twenty-eight autistic adults with moderate or severe intellectual disabilities, 37 carers, and 40 therapists took part in this single-group non-randomised feasibility study designed to test intervention feasibility and acceptability, outcome measures, and research processes., Results: The intervention was judged as feasible and acceptable by autistic adults with intellectual disabilities, carers, and therapists. Minor intervention revisions were suggested. Carers completed 100% of outcome measures and the missing data rate was low. Complying with legislation governing the inclusion of participants who lack capacity to decide whether they wanted to take part in this study led to an average 5-week enrolment delay., Conclusion: The intervention and associated study processes were judged to be feasible and acceptable and should now be tested within a larger randomised trial., (© 2024 The Author(s). Journal of Applied Research in Intellectual Disabilities published by John Wiley & Sons Ltd.)

Purpose of Review: To review the biologic mechanisms that may be operative between physical activity and survival after breast cancer., Recent Findings: Physical activity decreases risk of mortality from breast cancer by up to 40%. Several biologic mechanisms have been hypothesized to explain this association. Previous cohort studies and randomized trials have examined the primary mechanisms that appear to be operative, which involve a decrease in sex hormone levels, insulin resistance, and inflammation. The evidence is still inconsistent and several limitations in the existing literature exist. Understanding the biologic mechanisms involved in the association of physical activity and breast cancer survival will provide more precision to physical activity guidelines for cancer survival. To achieve this objective, future research should include direct measurements of physical activity, sedentary behaviour, and health-related fitness to provide a more comprehensive assessment of these factors and their association with biomarkers and survival after breast cancer., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: The Alberta Moving Beyond Breast Cancer (AMBER) Study is an ongoing prospective cohort study investigating how direct measures of physical activity (PA), sedentary behavior (SB), and health-related fitness (HRF) are associated with survival after breast cancer., Methods: Women in Alberta with newly diagnosed stage I (≥ T1c) to IIIc breast cancer were recruited between 2012 and 2019. Baseline assessments were completed within 90 days of surgery. Measurements included accelerometers to measure PA and SB; a graded treadmill test with gas exchange analysis to measure cardiorespiratory fitness (VO 2peak ); upper and lower body muscular strength and endurance; dual-X-ray absorptiometry to measure body composition; and questionnaires to measure self-reported PA and SB., Results: At baseline, the 1528 participants' mean age was 56 ± 11 years, 59% were post-menopausal, 62% had overweight/obesity, and 55% were diagnosed with stage II or III disease. Based on device measurements, study participants spent 8.9 ± 1.7 h/day sedentary, 4.4 ± 1.2 h/day in light-intensity activity, 0.9 ± 0.5 h/day in moderate-intensity activity, and 0.2 ± 0.2 h/day in vigorous-intensity activity. For those participants who reached VO 2peak , the average aerobic fitness level was 26.6 ± 6 ml/kg/min. Average body fat was 43 ± 7.1%., Conclusion: We have established a unique cohort of breast cancer survivors with a wealth of data on PA, SB, and HRF obtained through both direct and self-reported measurements. Study participants are being followed for at least ten years to assess all outcomes after breast cancer. These data will inform clinical and public health guidelines on PA, SB, and HRF for improving breast cancer outcomes., (© 2021. The Author(s).)

Background: Life-space mobility (LSM) captures a broad spectrum of mobility in physical and social environments; however, it has not been extensively studied in Parkinson's disease. Using a multiple-methods approach, individual, social and environmental factors that impact LSM were explored in PD., Methods: Two hundred twenty-seven participants with PD (n = 113) and a comparative group without PD (n = 114) were recruited from the community. Within a cross-sectional survey, LSM (University of Alabama Birmingham Life-Space Assessment, LSA) was compared in the two groups. Using multiple linear regression, socio-demographics, lifestyle behaviors, medical, mobility and social factors were examined to identify factors that explained LSM. A qualitative narrative inquiry was completed to augment the findings from the survey; 10 participants with PD were interviewed regarding facilitators and barriers to mobility., Results: The mean overall LSA-composite score for the PD group was 64.2 (SD = 25.8) and 70.3 (SD = 23.1) for the community comparative group (mean difference = 6 points, 95%CI:-0.4, 12.5) indicating most participants moved independently beyond their neighborhoods. A higher proportion of the PD group required assistance with mobility than the community comparison group. Not driving, receiving caregiving, lower social participation, and lower monthly family finances were associated with restricted LSM in the PD group. Data from qualitative interviews supported quantitative findings and offered insights into the features of the built environment that facilitate and restrict mobility., Conclusion: Individual, social and environmental factors are associated with the LSM among persons with PD. Clinicians and policy-makers should include both individual and community-based factors when developing interventions to encourage the LSM of the PD population., (© 2022 International Parkinson and Movement Disorder Society.)

Following accidental releases, gamma spectrometry of impregnated charcoal filters is used to measure gaseous 131 I contamination, but is subject to sampling inhomogeneity. In this study two germanium detectors are calibrated using a charcoal multi-gamma standard. Activities in samples spiked with a matrix of 131 I aliquots are compared based on measurement, spike known activity, and monte-carlo simulation, and used to test a simple mixing method. Measurement efficiency, and removal of 11% inhomogeneity effect by mixing, was successfully reproduced in GESPECOR calculations., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Risk factors associated with late effects in survivors of adolescent and young adult (AYA) cancer are poorly understood. We conducted a systematic scoping review to identify cohort studies published in English from 2010-2020 that included: (1) cancer survivors who were AYAs (age 15-39 years) at diagnosis and (2) outcomes of subsequent malignant neoplasms (SMNs), chronic conditions, and/or late mortality (>5 years postdiagnosis). There were 652 abstracts identified and, ultimately, 106 unique studies were included, of which 23, 34, and 54 studies related to the risk of SMNs, chronic conditions, and mortality, respectively. Studies investigating late effects among survivors of any primary cancer reported that AYA cancer survivors were at higher risk of SMN, chronic conditions, and all-cause mortality compared to controls. There was an indication that the following factors increased risk: radiation exposure (n = 3) for SMNs; younger attained age (n = 4) and earlier calendar period of diagnosis (n = 3) for chronic conditions; and non-Hispanic Black or Hispanic (n = 5), low socioeconomic status (n = 3), and earlier calendar period of diagnosis (n = 4) for late mortality. More studies including the full AYA age spectrum, treatment data, and results stratified by age, sex, and cancer type are needed to advance knowledge about late effects in AYA cancer survivors.

An estimated 30-40% of cancers can be prevented through changes in modifiable lifestyle and environmental risk factors known to be associated with cancer incidence. Despite this knowledge, there remains limited awareness that these associations exist. The purpose of this review article was to summarize the epidemiologic evidence concerning the contribution of physical activity, sedentary behavior, and obesity to cancer etiology and to provide an overview of the biologic mechanisms that may be operative between these factors and cancer incidence. Strong and consistent evidence exists that higher levels of physical activity reduce the risk of six different cancer sites (bladder, breast, colon, endometrial, esophageal adenocarcinoma, gastric cardia), whereas moderate evidence inversely associates physical activity with lung, ovarian, pancreatic and renal cancer, and limited evidence inversely correlates physical activity with prostate cancer. Sedentary behavior, independent of physical activity, has been shown to increase the risk of colon, endometrial, and lung cancers. Obesity is an established risk factor for 13 different cancer sites (endometrial, postmenopausal breast, colorectal, esophageal, renal/kidneys, meningioma, pancreatic, gastric cardia, liver, multiple myeloma, ovarian, gallbladder, and thyroid). The main biologic mechanisms whereby physical activity, sedentary behavior, and obesity are related to cancer incidence include an effect on endogenous sex steroids and metabolic hormones, insulin sensitivity, and chronic inflammation. Several emerging pathways related to oxidative stress, DNA methylation, telomere length, immune function, and gut microbiome are presented. Key recommendations for future research in both the epidemiology and biology of the associations between physical activity, sedentary behavior, obesity, and cancer risk are also provided., (© 2020 The Authors. Published by FEBS Press and John Wiley & Sons Ltd.)

Purpose: The aim of this study was to evaluate associations between pre- and postdiagnosis physical activity and survival in survivors of endometrial cancer by physical activity domain, intensity, dose (metabolic-equivalent task [MET]-hours/week/year), and change from pre- to postdiagnosis., Methods: We conducted a prospective cohort study in Alberta, Canada, of 425 women who were diagnosed with histologically confirmed invasive endometrial cancer between 2002 and 2006 and observed to 2019. The interviewer-administered Lifetime Total Physical Activity Questionnaire recorded prediagnosis (assessed at a median of 4.4 months after diagnosis) and postdiagnosis physical activity (assessed at a median of 3.4 years after diagnosis). Associations between physical activity and overall and disease-free survival were assessed using Cox proportional hazards models adjusted for age, stage, grade, treatments, body mass index, menopausal status, hormone therapy use, family history of cancer, and comorbidities., Results: After a median follow-up of 14.5 years, there were 60 deaths, including 18 endometrial cancer deaths, and 80 disease-free survival events. Higher prediagnosis recreational physical activity was statistically significantly associated with improved disease-free survival (> 14 v ≤ 8 MET-hours/week/year; hazard ratio [HR], 0.54; 95% CI, 0.30 to 0.96; P trend = .04), but not overall survival (HR, 0.56; 95% CI, 0.29 to 1.07; P trend = .06). Higher postdiagnosis recreational physical activity (> 13 v ≤ 5 MET-hours/week/year) was strongly associated with both improved disease-free survival (HR, 0.33; 95% CI, 0.17 to 0.64; P trend = .001) and overall survival (HR, 0.33; 95% CI, 0.15 to 0.75; P trend = .007). Participants who maintained high recreational physical activity levels from pre- to postdiagnosis also had improved disease-free survival (HR, 0.35; 95% CI, 0.18 to 0.69) and overall survival (HR, 0.43; 95% CI, 0.20 to 0.94) compared with those who maintained low physical activity levels., Conclusion: Recreational physical activity, especially postdiagnosis, is associated with improved survival in survivors of endometrial cancer.

We describe the development of an automated, user-friendly programme which, making use of the GESPECOR gamma spectrometry software to conduct Monte Carlo simulations, yields an optimised model of a HPGe detector by applying suitable optimisation algorithms without requiring any further user intervention. The programme is capable of simultaneously employing multiple experimental FEP efficiency curves for the parameter optimisation process. Application of the optimisation process to a HPGe detector demonstrates that accurate, robust models can be achieved using this approach., (Copyright © 2019. Published by Elsevier Ltd.)

Purpose: In the EC-funded project RENEB (Realizing the European Network in Biodosimetry), physical methods applied to fortuitous dosimetric materials are used to complement biological dosimetry, to increase dose assessment capacity for large-scale radiation/nuclear accidents. This paper describes the work performed to implement Optically Stimulated Luminescence (OSL) and Electron Paramagnetic Resonance (EPR) dosimetry techniques., Materials and Methods: OSL is applied to electronic components and EPR to touch-screen glass from mobile phones. To implement these new approaches, several blind tests and inter-laboratory comparisons (ILC) were organized for each assay., Results: OSL systems have shown good performances. EPR systems also show good performance in controlled conditions, but ILC have also demonstrated that post-irradiation exposure to sunlight increases the complexity of the EPR signal analysis., Conclusions: Physically-based dosimetry techniques present high capacity, new possibilities for accident dosimetry, especially in the case of large-scale events. Some of the techniques applied can be considered as operational (e.g. OSL on Surface Mounting Devices [SMD]) and provide a large increase of measurement capacity for existing networks. Other techniques and devices currently undergoing validation or development in Europe could lead to considerable increases in the capacity of the RENEB accident dosimetry network.

Purpose: The RENEB accident exercise was carried out in order to train the RENEB participants in coordinating and managing potentially large data sets that would be generated in case of a major radiological event., Materials and Methods: Each participant was offered the possibility to activate the network by sending an alerting email about a simulated radiation emergency. The same participant had to collect, compile and report capacity, triage categorization and exposure scenario results obtained from all other participants. The exercise was performed over 27 weeks and involved the network consisting of 28 institutes: 21 RENEB members, four candidates and three non-RENEB partners., Results: The duration of a single exercise never exceeded 10 days, while the response from the assisting laboratories never came later than within half a day. During each week of the exercise, around 4500 samples were reported by all service laboratories (SL) to be examined and 54 scenarios were coherently estimated by all laboratories (the standard deviation from the mean of all SL answers for a given scenario category and a set of data was not larger than 3 patient codes)., Conclusions: Each participant received training in both the role of a reference laboratory (activating the network) and of a service laboratory (responding to an activation request). The procedures in the case of radiological event were successfully established and tested.

Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS.