Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.

Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim of this study is to determine whether the addition of screening for MLD to the routine newborn screening program in the UK is a cost-effective use of National Health Service (NHS) resources. A health economic analysis from the perspective of the NHS and Personal Social Services was developed based on a decision-tree framework for each MLD subtype using long-term outcomes derived from a previously presented partitioned survival and Markov economic model.

Creating Structures to Support Quality Matters Certification Within a School of Nursing.

Background: Best practices for online course design aim to improve teaching and learning by emphasizing the relationship between a course's learning outcomes and all other parts of the course, from assessments to technology to student interaction with peers and instructors. The transition and expanded opportunities to online or hybrid learning in nursing education demonstrate the need for quality online learning experiences.

Method: A university initiative to ensure high quality remote courses focused on expanding Quality Matters (QM) certification of hybrid and online courses, which ensures that a course has been developed according to standards for online learning.

Multi-exon deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Classical Ehlers-Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility. Classical EDS is predominantly caused by small pathogenic variants in the genes and and occasionally by a point mutation p.(Arg312Cys), while gross deletions or duplications are uncommon.

Injuries and Interventions on Transported Military Working Dogs Within the US Central Command.

Background: Limited veterinary care is available in the far forward environment, leading to human medical personnel being responsible, in part, for treatment of military working dogs (MWD). Though guidelines for MWD care exist, there is little research on the care and treatment of MWDs by human medical personnel. There is a lot of research on the care and treatment of MWDs.

Addressing the global challenges of COVID-19 and other pulmonary diseases with microfluidic technology.

COVID-19, an infectious pulmonary disease caused by the SARS-CoV-2 virus, has profoundly impacted the world, motivating researchers across a broad spectrum of academic disciplines to gain a deeper understanding and develop effective therapies to this disease. This article presents an engineering perspective on how microfluidic technologies may address some of the challenges presented by COVID-19 and other pulmonary diseases. In particular, this article highlights urgent needs in pulmonary medicine, with an emphasis on technological innovations in the microfluidic manipulation of particles and fluids, and how these innovations may contribute to the study, diagnosis, and therapy of pulmonary diseases.

An Analysis of US Africa and Indo-Pacific Commands Military Working Dog Medical Transportation, 2008-2018.

Unlabelled: Military working dogs (MWD) deploy with diverse tasks. Given significant utilization in Central Command (CENTCOM) for combat operations, the majority of MWD medical literature centers on combat trauma from this theater. Other commands, to include Indo-Pacific Command (INDOPACOM) and Africa Command (AFRICOM) utilize MWDs for low-intensity operations.

Author Correction: Immunologic findings precede rapid lupus flare after transient steroid therapy.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Unique Sjögren's syndrome patient subsets defined by molecular features.

Objective: To address heterogeneity complicating primary SS (pSS) clinical trials, research and care by characterizing and clustering patients by their molecular phenotypes.

Methods: pSS patients met American-European Consensus Group classification criteria and had at least one systemic manifestation and stimulated salivary flow of ⩾0.1 ml/min.

College Access, Success and Equity for Students on the Autism Spectrum.

College may be considered a gateway to success, yet access to college is limited for young adults with autism. Given the research recommendations to elicit student experiences and to communicate among universities to improve college access, success, and equity, the present study examined the questions: What factors are perceived as pathways to success or barriers to success by college students on the autism spectrum? What university provided accommodations and/or support services do they prefer? Participants from four universities completed surveys and semi-structured interviews. Findings from the multi-university study suggest the need to provide transition planning and systematic non-academic social and emotional supports from the start of the college experience as well as specific training for faculty, staff, and peers.

Immunologic findings precede rapid lupus flare after transient steroid therapy.

Systemic lupus erythematosus (SLE) flares elicit progressive organ damage, leading to disability and early mortality. This study evaluated clinical and immunologic factors associated with impending flare in the Biomarkers of Lupus Disease study. Autoantibodies and 32 soluble mediators were measured by multiplex assays, immune pathway activation by gene expression module scores, and immune cell subset frequencies and activation states by flow cytometry.

Wireless bioresorbable electronic system enables sustained nonpharmacological neuroregenerative therapy.

Peripheral nerve injuries represent a significant problem in public health, constituting 2-5% of all trauma cases. For severe nerve injuries, even advanced forms of clinical intervention often lead to incomplete and unsatisfactory motor and/or sensory function. Numerous studies report the potential of pharmacological approaches (for example, growth factors, immunosuppressants) to accelerate and enhance nerve regeneration in rodent models.

Strain-dependent sex differences in a long-term forced swim paradigm.

Women are twice as likely as men to suffer from trauma- and stressor-related disorders. The development of improved therapeutic interventions is contingent upon a more complete grasp of both the neural and behavioral dynamics of the stress response in females. The rodent forced swim test (FST) is a valuable animal model for exploring the neurobiological mechanisms responsible for selection of active and passive responses to inescapable stressors, but it is often neglected in 2-day FST studies is the dissociation of innate (Day 1) versus learned (Day 2) coping responses.

Economic evaluation of epinephrine auto-injectors for peanut allergy.

Background: Three commercial epinephrine auto-injectors were available in the United States in the summer of 2016: EpiPen, Adrenaclick, and epinephrine injection, USP auto-injector.

Objective: To describe the variation in pharmacy costs among epinephrine auto-injector devices in New England and evaluate the additional expense associated with incremental auto-injector costs.

Methods: Decision analysis software was used to evaluate costs of the most and least expensive epinephrine auto-injector devices for children with peanut allergy.

Use of SLICC criteria in a large, diverse lupus registry enables SLE classification of a subset of ACR-designated subjects with incomplete lupus.

Objective: SLE is traditionally classified using the American College of Rheumatology (ACR) criteria. The Systemic Lupus International Collaborating Clinics (SLICC) recently validated an alternative system. This study examined large cohorts of subjects with SLE and incomplete lupus erythematosus (ILE) to compare the impact of ACR and SLICC criteria.

Clinical and Serologic Features in Patients With Incomplete Lupus Classification Versus Systemic Lupus Erythematosus Patients and Controls.

Objective: Incomplete lupus erythematosus (ILE) involves clinical and/or serologic manifestations consistent with but insufficient for systemic lupus erythematosus (SLE) classification. Because the nature of ILE is poorly understood and no treatment recommendations exist, we examined the clinical manifestations, medication history, and immunologic features in a diverse collection of ILE and SLE patients.

Methods: Medical records of subjects enrolled in the Lupus Family Registry and Repository were reviewed for medication history and American College of Rheumatology (ACR) classification criteria to identify ILE patients (3 ACR criteria; n = 440) and SLE patients (≥4 ACR criteria; n = 3,397).

Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells.

Genetic changes in human pluripotent stem cells (hPSCs) gained during culture can confound experimental results and potentially jeopardize the outcome of clinical therapies. Particularly common changes in hPSCs are trisomies of chromosomes 1, 12, 17, and 20. Thus, hPSCs should be regularly screened for such aberrations.

Dysregulation of innate and adaptive serum mediators precedes systemic lupus erythematosus classification and improves prognostic accuracy of autoantibodies.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a poorly understood preclinical stage of immune dysregulation and symptom accrual. Accumulation of antinuclear autoantibody (ANA) specificities is a hallmark of impending clinical disease. Yet, many ANA-positive individuals remain healthy, suggesting that additional immune dysregulation underlies SLE pathogenesis.

Inferring metabolic pathway activity levels from RNA-Seq data.

Background: Assessing pathway activity levels is a plausible way to quantify metabolic differences between various conditions. This is usually inferred from microarray expression data. Wide availability of NGS technology has triggered a demand for bioinformatics tools capable of analyzing pathway activity directly from RNA-Seq data.

Antibody production in rabbits administered Freund's complete adjuvant and carprofen concurrently.

Freund's complete adjuvant (FCA) is a commonly used immunopotentiator that can boost polyclonal antibody production in animal models such as rabbits, but FCA is also known to cause inflammation and pain. It is important to balance the welfare of animals with the goal of efficiently producing antibodies, but little is known about how common treatments for pain and inflammation, such as non-steroidal anti-inflammatory drugs (NSAIDs), affect the production of polyclonal antibodies. The purpose of this study was to measure polyclonal antibody production in rabbits that were administered FCA either with or without a concurrent treatment of a NSAID, carprofen.

B-Cell and Monocyte Contribution to Systemic Lupus Erythematosus Identified by Cell-Type-Specific Differential Expression Analysis in RNA-Seq Data.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by complex interplay among immune cell types. SLE activity is experimentally assessed by several blood tests, including gene expression profiling of heterogeneous populations of cells in peripheral blood. To better understand the contribution of different cell types in SLE pathogenesis, we applied the two methods in cell-type-specific differential expression analysis, csSAM and DSection, to identify cell-type-specific gene expression differences in heterogeneous gene expression measures obtained using RNA-seq technology.