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BACKGROUND: F8 int1h inversions (Inv1) are detected in 1-2% of severe hemophilia A (HA) patients. Long-range polymerase chain reaction (PCR) and inverse-shifting PCR have been used to diagnose these inversions.OBJECTIVES: To design and validate a sensitive and robust assay for detection of F8 Inv1 inversions.METHODS: Archival DNA samples were investigated using mile-post assays and droplet digital

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This chapter describes the musculoskeletal (MSK) context in children and young people as an important contributor to the global non-communicable disease burden. Through selected MSK conditions, we describe the impact on patients, families and communities and highlight the challenges that need to be addressed. We focus on opportunities for better working together and describe exemplar initiatives t

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Stochastic differential equation mixed-effects models (SDEMEMs) are flexible hierarchical models that are able to account for random variability inherent in the underlying time-dynamics, as well as the variability between experimental units and, optionally, account for measurement error. Fully Bayesian inference for state-space SDEMEMs is performed, using data at discrete times that may be incompl

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Engineering tunable graphene-semiconductor interfaces while simultaneously preserving the superior properties of graphene is critical to graphene-based devices for electronic, optoelectronic, biomedical, and photoelectrochemical applications. Here, we demonstrate this challenge can be surmounted by constructing an interesting atomic Schottky junction via epitaxial growth of high-quality and unifor

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Objective: To investigate the frequency, predictors, and outcomes of neurologic injury in adults treated with postcardiotomy extracorporeal membrane oxygenation (PC-ECMO). Design: A retrospective multicenter registry study. Setting: Twenty-one European institutions where cardiac surgery is performed. Participants: A total of 781 adult patients who required PC-ECMO during 2010 to 2018 were divided

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In the present study, strategies are developed to enable time-efficient models for structures subjected to blast loading, appropriate for use in a structural design process. Dynamic sub structuring is employed to obtain reduced models with localized nonlinearities, such as predefined plastic hinges in a beam column structure. The parts of the substructures that remains linear elastic are modeled b

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Between 2014 and 2019, an innovative small-pyrolysis system (the PPV300) using agrowaste as feedstock was transferred and adapted from Switzerland to Vietnam by a United Nations Industrial Development Organization (UNIDO) project. The coffee husk resulting from the processing of coffee beans is usually disposed of in Vietnam or burned inefficiently to dry coffee beans. Small-scale pyrolysis of cof

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Laser-based Raman spectroscopy is a powerful technique for non-intrusive measurements of chemical composition in gas, liquid, and solids. However, weak signals make it challenging to employ the technique for diagnostics under harsh conditions with various background interferences. To overcome such limitations, we have devised a method, polarization lock-in filtering (PLF) based on temporal modulat

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A recent genome-wide association study reported five loci for which there was strong, but sub-genome-wide significant evidence for association with multiple sclerosis risk. The aim of this study was to evaluate the role of these potential risk loci in a large and independent data set of ≈ 20,000 subjects. We tested five single nucleotide polymorphisms rs228614 (MANBA), rs630923 (CXCR5), rs2744148

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The RNA integrity number (RIN) is a frequently used quality metric to assess the completeness of rRNA, as a proxy for the corresponding mRNA in a tissue. Current methods operate at bulk resolution and provide a single average estimate for the whole sample. Spatial transcriptomics technologies have emerged and shown their value by placing gene expression into a tissue context, resulting in transcri

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As for the automotive industry, industry and academia are making extensive efforts to create autonomous ships. The solutions for this are very technology-intense. Many building blocks, often relying on AI technology, need to work together to create a complete system that is safe and reliable to use. Even when the ships are fully unmanned, humans are still foreseen to guide the ships when unknown s

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In the context of range-independent solid media, we propose a well-conditioned dynamic stiffness matrix for an elastic layer sitting over an elastic half-space. This formulation overcomes the well-known problem of numerical ill-conditioning when solving the system of equations for deep-layered strata. The methodology involves the exact solutions of transformed ordinary differential equations in th

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BACKGROUND: Preterm infants are susceptible to hyperglycemia and hypoglycemia, conditions which may lead to adverse neurodevelopment. The use of continuous glucose monitoring devices (CGM) might help keeping glucose levels in the normal range, and reduce the need for blood sampling. However, the use of CGM might be associated with harms in the preterm infant. OBJECTIVES: Objective one: to assess t

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A combination of theoretical predictions and isotopic equilibration experiments using the three-isotope method have been performed to assess Si isotope fractionation among minerals, and aqueous species in the presence of dissolved catechol. Aqueous Si in abiotic ambient temperature aqueous solutions is dominated by the IV-coordinated H4SiO04species, but the presence of aqueous catechol provokes th

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Multinational enterprises have outsourced production and distribution to layers of subsidiaries and contractors to expand into new markets and increase profitability. This compartmentalization of the enterprise is facilitated by company laws and has resulted in risk shifting, excessive risk taking and lack of remediation for those injured. Company laws in virtually all jurisdictions allow for corp

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The simulation model which examines the dynamic behavior of real structures needs to address the impact of uncertainty in both geometry and material parameters. This article investigates three-dimensional finite element models for structural dynamics problems with respect to both model and parameter uncertainties. The parameter uncertainties are determined via laboratory measurements on several be

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Background: Dizziness is common among patients with first time stroke. It affects self-perceived health and is a risk factor for falls. Vestibular rehabilitation (VR) is effective for treating dizziness among various conditions, but the effect of dizziness with origin in the central nervous system is poorly studied. This pilot study of a randomized controlled trial aimed at investigating a vestibu

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Considering the current resources scarcity, Wastewater Treatment Plants (WWTP) should be adapted to become more sustainable. For example, it is possible to recover resources present in municipal wastewater. However, regional studies about integration of resource recovery processes at different scales or about the main barriers to implementation in developing countries are missing in the literature

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The min-sum (MS) and approximate-min* (a-min*) algorithms are alternatives of the belief propagation (BP) algorithm for decoding low-density parity-check (LDPC) codes. To lower the BP decoding complexity, both algorithms compute two magnitudes at each check node (CN) and pass them to the neighboring variable nodes (VNs).In this work we propose a new algorithm, ga-min*, that generalizes the MS