Genetic counselors have long recognized the challenges of working with adolescents and young adults (AYA) and their families. In 2010, a framework of Youth-friendly Genetic Counseling was developed by an expert reference group with the aim to improve both care for AYAs and the experience of health professionals delivering that care. Subsequently, an education workshop was developed aimed to upskill genetic health professionals in youth-friendly genetic counseling.
View Article and Find Full Text PDFCentre-based childcare may benefit pre-school children and alleviate inequalities in early childhood development, but evidence on socio-emotional and physical health outcomes is limited. Data were from the UK Millennium Cohort Study (n = 14,376). Inverse-probability weighting was used to estimate confounder-adjusted population-average effects of centre and non-centre-based childcare (compared to parental care only) between ages 26-31 months on (age 3): internalising and externalising symptoms, pro-social behaviour, independence, emotional dysregulation, vocabulary, school readiness, and body mass index.
View Article and Find Full Text PDFThis study investigated the somatosensory and corticomotor physiology of retired contact sport athletes with a history of repeated concussion/subconcussion head trauma. Retired male athletes with a history of playing contact sports and repeated head trauma ( = 122) were divided into two groups: those who expressed concerns regarding their mental and cognitive health ("symptomatic": = 83), and those who did not express any ongoing concerns ("asymptomatic": = 39). Both groups were compared to age-matched male controls ( = 50) with no history of concussions or participation in contact sports, an absence of self-reported cognitive, or mood impairments.
View Article and Find Full Text PDFα1-antitrypsin deficiency is characterised by the misfolding and intracellular polymerisation of mutant α1-antitrypsin protein within the endoplasmic reticulum (ER) of hepatocytes. Small molecules that bind and stabilise Z α-antitrypsin were identified via a DNA-encoded library screen. A subsequent structure based optimisation led to a series of highly potent, selective and cellular active α1-antitrypsin correctors.
View Article and Find Full Text PDFThe production of χ_{c1}(3872) and ψ(2S) hadrons is studied as a function of charged particle multiplicity in pp collisions at a center-of-mass energy of 8 TeV, corresponding to an integrated luminosity of 2 fb^{-1}. For both states, the fraction that is produced promptly at the collision vertex is found to decrease as charged particle multiplicity increases. The ratio of χ_{c1}(3872) to ψ(2S) cross sections for promptly produced particles is also found to decrease with multiplicity, while no significant dependence on multiplicity is observed for the equivalent ratio of particles produced away from the collision vertex in b-hadron decays.
View Article and Find Full Text PDFA measurement of CP violation in the decay B^{+}→K^{+}π^{0} is reported using data corresponding to an integrated luminosity of 5.4 fb^{-1} collected with the LHCb experiment at a center-of-mass energy of sqrt[s]=13 TeV. The CP asymmetry is measured to be 0.
View Article and Find Full Text PDFPurpose: Our institution operates a remote radiation oncology service in Northern Ontario, Canada. Since the start of the coronavirus disease 2019 pandemic, this center has operated without radiation oncologists on site owing to safety precautions, and this study seeks to understand the effect of this shift.
Methods And Materials: Departmental level data reports were used to investigate differences in metrics between April to May of 2019 and April to May 2020.
Regulation of proteolytic activity in the skin plays a pivotal role in epidermal homeostasis. This is best exemplified in Netherton syndrome, a severe genetic skin condition caused by loss-of-function mutations in the gene serine protease inhibitor Kazal-type 5 encoding lympho-epithelial Kazal-type-related inhibitor, a serine protease inhibitor that regulates kallikrein (KLK)-related peptidase 5, 7, and 14 activities. KLK5 plays a central role in stratum corneum shedding and inflammatory cell signaling, activates KLK7 and KLK14, and is therefore an optimal therapeutic target.
View Article and Find Full Text PDFThe first observation of the suppressed semileptonic B_{s}^{0}→K^{-}μ^{+}ν_{μ} decay is reported. Using a data sample recorded in pp collisions in 2012 with the LHCb detector, corresponding to an integrated luminosity of 2 fb^{-1}, the branching fraction B(B_{s}^{0}→K^{-}μ^{+}ν_{μ}) is measured to be [1.06±0.
View Article and Find Full Text PDFBackground: It is estimated that there are more than 100,000 people in the United Kingdom who have multiple sclerosis (MS). Patient experience and outcome are improved by access to a specialist nursing service. The aim of this study was to perform demand modeling to understand the need for MS nursing interventions, and thus inform modeling of the future UK MS nursing workforce.
View Article and Find Full Text PDFBackground: Different configurations of family adversity affect children's socio-emotional development differently; however, we lack knowledge of moderators amenable to policy intervention. This study explored whether early childhood centre-based childcare moderated the impact of family adversity configurations on socio-emotional development.
Methods: Data were from the Growing Up in Scotland first birth cohort, born 2004-05.
Polymersomes are a class of synthetic vesicles composed of a polymer membrane surrounding an aqueous inner cavity. In addition to their overall size, the thickness and composition of polymersome membranes determine the range of potential applications in which they can be employed. While synthetic polymer chemists have made great strides in controlling polymersome membrane parameters, measurement of their permeability to various analytes including gases, ions, organic molecules, and macromolecules remains a significant challenge.
View Article and Find Full Text PDFSevere α -antitrypsin deficiency results from the Z allele (Glu342Lys) that causes the accumulation of homopolymers of mutant α -antitrypsin within the endoplasmic reticulum of hepatocytes in association with liver disease. We have used a DNA-encoded chemical library to undertake a high-throughput screen to identify small molecules that bind to, and stabilise Z α -antitrypsin. The lead compound blocks Z α -antitrypsin polymerisation in vitro, reduces intracellular polymerisation and increases the secretion of Z α -antitrypsin threefold in an iPSC model of disease.
View Article and Find Full Text PDFInt J Environ Res Public Health
January 2021
Clinical exercise physiologists (CEPs) specialize in managing long-term, non-communicable health conditions using scientific rehabilitative exercise prescription, which alleviates the burden of these conditions on health care systems. This is evident, particularly in Australia (AUS), where they are registered as health care workers. CEPs have been shown to reduce the physical burden of long-term conditions on populations and the economic load that these place on national health departments.
View Article and Find Full Text PDFThe objective of this systematic literature review was to evaluate the evidence regarding the development of neck strength in reducing concussion and cervical spine injuries in adult amateur and professional sport populations. PubMed, CINAHL, Science Direct, and Web of Science databases were searched systematically. The criteria for inclusion in the review were as follows: (1) a human adult (≥18 or above); (2) involved in amateur, semi-professional, or professional sports; (3) sports included involved collisions with other humans, apparatus or the environment; (4) interventions included pre- and post-neck muscle strength measures or neck stability measures; (5) outcomes included effects on increasing neck strength in participants and/or injury incidence.
View Article and Find Full Text PDFThe only anticipated resonant contributions to B^{+}→D^{+}D^{-}K^{+} decays are charmonium states in the D^{+}D^{-} channel. A model-independent analysis, using LHCb proton-proton collision data taken at center-of-mass energies of sqrt[s]=7, 8, and 13 TeV, corresponding to a total integrated luminosity of 9 fb^{-1}, is carried out to test this hypothesis. The description of the data assuming that resonances only manifest in decays to the D^{+}D^{-} pair is shown to be incomplete.
View Article and Find Full Text PDFObjectives: The friction cost approach (FCA) is one way to estimate lost productivity, which considers the time taken to replace an employee, known as the friction period. The friction period may be influenced by local labour market conditions, limiting the relevance of international FCA estimates. The objective was to estimate the time and costs of replacing an employee in Australia.
View Article and Find Full Text PDFCOVID-19 poses significant challenges to pre-hospital and retrieval medicine (PHRM) clinicians - and many are unique to this area of clinical practice. We share the experiences of the South Australian Ambulance Service (SAAS) MedSTAR Emergency Medical Retrieval Service in preparing for the COVID-19 pandemic in the pre-hospital and retrieval setting - including the role of a multidisciplinary leadership team; challenges and potential approaches to screening for COVID-19; personal protective equipment for pre-hospital and aeromedical taskings; issues arising with interstate retrievals; and the role of telehealth. Although novel solutions allowed SAAS MedSTAR to continue to deliver high-quality care, considering the resource implications involved in undertaking the transfer of patients with COVID-19, it is clear that significant community disease transmission threatens to overwhelm any PHRM service.
View Article and Find Full Text PDFShape and size play powerful roles in determining the properties of a material; controlling these aspects with precision is therefore an important, fundamental goal of the chemical sciences. In particular, the introduction of shape anisotropy at the nanoscale has emerged as a potent way to access new properties and functionality, enabling the exploration of complex nanomaterials across a range of applications. Recent advances in DNA and protein nanotechnology, inorganic crystallization techniques, and precision polymer self-assembly are now enabling unprecedented control over the synthesis of anisotropic nanoparticles with a variety of shapes, encompassing one-dimensional rods, dumbbells and wires, two-dimensional and three-dimensional platelets, rings, polyhedra, stars, and more.
View Article and Find Full Text PDFA search for the decay K_{S}^{0}→μ^{+}μ^{-} is performed using proton-proton collision data, corresponding to an integrated luminosity of 5.6 fb^{-1} and collected with the LHCb experiment during 2016, 2017, and 2018 at a center-of-mass energy of 13 TeV. The observed signal yield is consistent with zero, yielding an upper limit of B(K_{S}^{0}→μ^{+}μ^{-})<2.
View Article and Find Full Text PDFEmerging evidence of brain injury on risk of neurodegenerative diseases such as Alzheimer's disease (AD) and chronic traumatic encephalopathy (CTE) have resulted in interest in therapeutic potential of omega-3 fatty acids (n-3FA). We conducted a systematic review of n-3FA therapeutic efficacy for ageing adults at risk of AD/CTE following a history of repeated head trauma. Databases for articles between 1980-June 2020 were examined for studies reporting on n-3 FAs in adults (≥ 45 years) with a history of repeated brain injury.
View Article and Find Full Text PDFThe nine Bradford Hill (BH) viewpoints (sometimes referred to as criteria) are commonly used to assess causality within epidemiology. However, causal thinking has since developed, with three of the most prominent approaches implicitly or explicitly building on the potential outcomes framework: directed acyclic graphs (DAGs), sufficient-component cause models (SCC models, also referred to as 'causal pies') and the grading of recommendations, assessment, development and evaluation (GRADE) methodology. This paper explores how these approaches relate to BH's viewpoints and considers implications for improving causal assessment.
View Article and Find Full Text PDFThe seemingly simple notion of the hydrophobic effect can be viewed from multiple angles involving theory, simulation, and experiments. This viewpoint examines five attributes of predictive models to enhance synthetic efforts as well as experimental methods to quantify hydrophobicity. In addition, we compare existing predictive models against experimental data for polymer surface tension, lower critical solution temperature, solution self-assembly morphology, and degradation behavior.
View Article and Find Full Text PDFA study of prompt charm-hadron pair production in proton-lead collisions at sqrt[s_{NN}]=8.16 TeV is performed using data corresponding to an integrated luminosity of about 30 nb^{-1}, collected with the LHCb experiment. Production cross sections for different pairs of charm hadrons are measured and kinematic correlations between the two charm hadrons are investigated.
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