Population-based screening of newborns: Findings from the NBS Expansion Study (Part One)

Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion

Parity Doubling and the S Parameter Below the Conformal Window

We describe a lattice simulation of the masses and decay constants of the lowest-lying vector and axial resonances, and the electroweak S parameter, in an SU(3) gauge theory with $N_f = 2$ and 6 fermions in the fundamental representation. The spectrum becomes more parity doubled and the S parameter per electroweak doublet decreases when $N_f$ is increased from 2 to 6, motivating study of these trends as $N_f$ is increased further, toward the critical value for transition from confinement to infrared conformality.Comment: 4 pages, 5 figures; to be submitted to PR

An unexpected diagnosis of human immunodeficiency virus-2 infection in an overseas visitor: a case report

BACKGROUND: Human immunodeficiency virus 2 infection is endemic in West Africa but is also found in parts of Europe, North and South America, and India where it is thought to have been introduced secondary to migration and commercial trade ties. It is less common than Human immunodeficiency virus 1, with differences in pathogenicity, lower rates of transmission, longer asymptomatic period and slower progression to acquired immunodeficiency syndrome. Human immunodeficiency virus 2 is also associated with diagnostic challenges given the lack of commercially available diagnostic tests, and management challenges given intrinsic resistance to many anti-retroviral therapies. CASE PRESENTATION: We describe a case of a 65 year old South Indian female, visiting her family in Australia, who presented with weight loss, pancytopaenia and generalised lymphadenopathy on a background of newly diagnosed congestive cardiac failure. Multiple investigations were performed to elucidate the cause of her presentation, with the eventual unexpected diagnosis of human immunodeficiency virus 2. She was commenced on anti-retroviral treatment and made a remarkable recovery. CONCLUSION: We describe the challenges associated with diagnosis of human immunodeficiency virus 2 due to lack of commercially available diagnostics, as well as the treatment and management challenges including the fact that human immunodeficiency virus 2 is intrinsically resistant to non-nucleoside reverse transcriptase inhibitors. Human immunodeficiency virus 2 infection should be considered in patients who present with symptoms and signs that do not point towards a clear diagnosis, such as unexplained pancytopaenia or lymphadenopathy, and who have risk factors such as being from an endemic area or having had blood transfusions, especially prior to the commencement of blood-borne virus screening of blood donors

Stealth dark matter confinement transition and gravitational waves

We use non-perturbative lattice calculations to investigate the finite-temperature confinement transition of stealth dark matter, focusing on the regime in which this early-universe transition is first order and would generate a stochastic background of gravitational waves. Stealth dark matter extends the standard model with a new strongly coupled SU(4) gauge sector with four massive fermions in the fundamental representation, producing a stable spin-0 'dark baryon' as a viable composite dark matter candidate. Future searches for stochastic gravitational waves will provide a new way to discover or constrain stealth dark matter, in addition to previously investigated direct-detection and collider experiments. As a first step to enabling this phenomenology, we determine how heavy the dark fermions need to be in order to produce a first-order stealth dark matter confinement transition

Stealth dark matter confinement transition and gravitational waves

We use non-perturbative lattice calculations to investigate the finite-temperature confinement transition of stealth dark matter, focusing on the regime in which this early-universe transition is first order and would generate a stochastic background of gravitational waves. Stealth dark matter extends the standard model with a new strongly coupled SU(4) gauge sector with four massive fermions in the fundamental representation, producing a stable spin-0 'dark baryon' as a viable composite dark matter candidate. Future searches for stochastic gravitational waves will provide a new way to discover or constrain stealth dark matter, in addition to previously investigated direct-detection and collider experiments. As a first step to enabling this phenomenology, we determine how heavy the dark fermions need to be in order to produce a first-order stealth dark matter confinement transition.Comment: Data release at doi.org/10.5281/zenodo.392187

Maximum-likelihood approach to topological charge fluctuations in lattice gauge theory

We present a novel technique for the determination of the topological susceptibility (related to the variance of the distribution of global topological charge) from lattice gauge theory simulations, based on maximum-likelihood analysis of the Markov-chain Monte Carlo time series. This technique is expected to be particularly useful in situations where relatively few tunneling events are observed. Restriction to a lattice subvolume on which topological charge is not quantized is explored, and may lead to further improvement when the global topology is poorly sampled. We test our proposed method on a set of lattice data, and compare it to traditional methods.Comment: 7 pages, 6 figures. v2: update to published versio

Strongly interacting dynamics and the search for new physics at the LHC

We present results for the spectrum of a strongly interacting SU(3) gauge theory with $N_f = 8$ light fermions in the fundamental representation. Carrying out non-perturbative lattice calculations at the lightest masses and largest volumes considered to date, we confirm the existence of a remarkably light singlet scalar particle. We explore the rich resonance spectrum of the 8-flavor theory in the context of the search for new physics beyond the standard model at the Large Hadron Collider (LHC). Connecting our results to models of dynamical electroweak symmetry breaking, we estimate the vector resonance mass to be about 2 TeV with a width of roughly 450 GeV, and predict additional resonances with masses below ~3 TeV.Comment: 6 pages, 6 figures. Added report number. Version submitted to journa