Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). is the GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly improve NHS prenatal diagnostic services by increasing genetic diagnoses and informing prenatal decision-making.
View Article and Find Full Text PDFAs common low penetrance variants associated with diseases are uncovered, attempts continue to be made to harness this knowledge for improving healthcare. Polygenic scores have been developed as the mechanism by which knowledge of common variants can be used to investigate genetic contributions to disease risk. They serve as a biomarker to provide an estimate of the genetic liability for a particular disease.
View Article and Find Full Text PDFTrapped molecular ions in pure rovibronic states are desirable in experiments ranging from cold chemistry to searches for physics beyond the Standard Model. Resonance-enhanced multiphoton ionisation (REMPI) can be used to prepare molecular ions in specific internal states with high fidelities. However, in the presence of electric fields, ionisation spectra exhibit frequency shifts and the ionisation thresholds are broadened.
View Article and Find Full Text PDFIn computational modelling of sensory-motor control, the dynamics of muscle contraction is an important determinant of movement timing and joint stiffness. This is particularly so in animals with many slow muscles, as is the case in insects-many of which are important models for sensory-motor control. A muscle model is generally used to transform motoneuronal input into muscle force.
View Article and Find Full Text PDFThe primary objective of this study was to determine the volume of distribution (Vd) (L/kg) of intravenous aminoglycosides (AGs) in critically ill haematological malignancy patients. Secondary objectives were to determine the body weight (actual, ideal, adjusted or lean) that yields the most precise estimate of Vd when normalised in L/kg as well as the frequency that current first-dose strategies result in post-distributional peak concentrations (C(peak)) within the target range (tobramycin 16-24 mg/L; amikacin 32-48 mg/L). In total, 58 AG doses were included (tobramycin, n = 34; amikacin, n = 24).
View Article and Find Full Text PDFObjective: The current study examined the relationships among combat exposure, presence of and search for meaning in life, general and social self-efficacy, and both posttraumatic stress disorder (PTSD) and depression symptom severity for a Veteran sample (N = 93).
Method: Participants completed an online survey comprising the Combat Exposure Scale, Meaning in Life Questionnaire, Self-Efficacy Scale, Depression subscale of the Depression, Anxiety, Stress Scales-21, and PTSD Checklist-Specific Stressor version. The majority of participants were male and Caucasian.
Veterans (N = 133) who were seeking treatment in either the Posttraumatic Stress Program or Substance Use Disorders Program at a Veterans Affairs Medical Center (VAMC) and, based on self-report of symptoms, met clinical norms for posttraumatic stress disorder (PTSD) or hazardous substance use (HSU) completed a survey related to relationship conflict behaviors, attachment styles, and depression severity. Participants were grouped into one of three categories on the basis of clinical norm criteria: PTSD only, HSU only, and PTSD + HSU. Participants completed the PTSD Checklist-Military, Experiences in Close Relationships Scale-Short Form, Center for Epidemiologic Studies-Depression scale, Alcohol Use Disorders Identification Test, Drug Use Disorders Identification Test, and Psychological Aggression and Physical Violence subscales of the Conflict Tactics Scale.
View Article and Find Full Text PDFFirewood can serve as a vector in the transport of non-native species, including wood-boring insects that feed within the wood and thus can be transported accidentally. Governments have enacted limitations on the movement of firewood in an effort to limit the anthropogenic movement of non-native species through, for example, recreational camping. Although the movement of invasive species through firewood is a documented invasion pathway, it is not trivial for governments to determine a "safe" allowable distance for moving firewood.
View Article and Find Full Text PDFThe introduction of non-native species has accelerated due to increasing levels of global trade and travel, threatening the composition and function of ecosystems. Upon arrival and successful establishment, biological invaders begin to spread and often do so with considerable assistance from humans. Recreational areas can be especially prone to the problem of accidental non-native species transport given the number of visitors that arrive from geographically diverse areas.
View Article and Find Full Text PDFDesert locusts show extreme phenotypic plasticity and can change reversibly between two phases that differ radically in morphology, physiology and behaviour. Solitarious locusts are cryptic in appearance and behaviour, walking slowly with the body held close to the ground. Gregarious locusts are conspicuous in appearance and much more active, walking rapidly with the body held well above the ground.
View Article and Find Full Text PDFGypsy moth (Lymantria dispar L.) spread is dominated by stratified dispersal, and, although spread rates are variable in space and time, the gypsy moth has invaded Wisconsin at a consistently higher rate than in other regions. Allee effects, which act on low-density populations ahead of the moving population that contribute to gypsy moth spread, have also been observed to be consistently weaker in Wisconsin.
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