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Cell-free DNA (cfDNA) originates from apoptotic and/or necrotic cells. Few reports are available that examine cfDNA from postmortem samples. Therefore, this study investigated differences between postmortem and biogenic subjects in concentration and fragment distribution of serum cfDNA. We also clarified features of serum cfDNA in postmortem subjects. The results revealed that postmortem subjects had significantly higher cfDNA concentrations than healthy controls and patients with cardiac disease. Serum cfDNA concentrations increased slightly with postmortem interval in subjects who died of asphyxia, and they were slightly higher in subjects who died from internal vs. external causes. Microchip electrophoresis of serum cfDNA revealed a fragment larger than 10,000 bp in only two postmortem subjects; we speculate that the fragment may have originated from necrotic cells. A relatively high concentration of one 150-200 bp fragment was characteristic of postmortem samples. Wnt inhibitor This fragment may have been derived from apoptosis or other processes. We also observed ladder fragments in some subjects who died from external causes. Although additional research is needed for verification, serum cfDNA concentrations and fragment patterns possibly be used as a tool to estimate postmortem intervals and cause of death.

Thrombophilia is a substantial source of indisposition and mortality in several countries, including Arab populations. Deep venous thrombosis (DVT) with or without pulmonary embolism (PE) is the prevalent clinical manifestation of thrombophilia. While many genetic risk factors for DVT are known, almost all associated with hemostasis, many genetic factors remain unexplained. Nowadays, Next Generation Sequencing (NGS) offers a potential solution that allows several candidate genes to be analyzed simultaneously at a reasonable expense.

We performed variant screening in the thrombophilia associated genes in Factor V Leiden (FVL) mutation-negative patients using Ion Torrent Next-generation sequencing (NGS). Ion AmpliSeq panel for 18 genes was designed. Twenty-nine unrelated patients with idiopathic VTE were recruited for NGS.

We were able to identify 19 variants (1 novel and 18 previously reported) in 10 out of 18 targeted genes. Pathogenic variants were identified in 22 patients demonstrating mutation detec may predispose to thrombophilia. The finding of the novel variant in the F7 gene extends the spectrum of variants affecting thrombosis. While a comparatively small number of subjects have been included in our cohort, the findings summarize the possible genetic features of thrombophilia.

There is an unmet need for an accessible, less invasive, cost-effective method to facilitate clinical trial enrollment and aid in clinical Alzheimer's disease (AD) diagnosis. APOE genotype affects the clearance and deposition of amyloid-beta (Aβ) with APOE4 carriers having increased risk while APOE2 alleles appear to be protective. Lower plasma Aβ42/40 correlates with brain amyloidosis. In response, C

N has developed the PrecivityAD™ test; plasma LC-MS/MS assays for Aβ isoform quantitation and qualitative APOE isoform-specific proteotyping.

In accord with CLIA standards, we developed and validated assay performance precision, accuracy, linearity, limit of detection (LoD), interferences.

Within-day precision varied from 1.5-3.0% (Aβ40) and 2.5-8.4% (Aβ42). Total (within-lab) variability was 2.7-7.7% (Aβ40) and 3.1-9.5% (Aβ42). Aβ40 quantitation was linear from 10 to 1780pg/mL; Aβ42 was linear from 2 to 254pg/mL. LoD was 11 and 2pg/mL for Aβ40 and Aβ42, respectively. APOE proteotypes were 100% concordant with genotype, while LoD (fM) was much lower than APOE concentrations observed in plasma (mM).

The PrecivityAD™ assays are precise, accurate, sensitive, and linear over a wide analytical range, free from significant interferences, and suitable for use in the clinical laboratory.

The PrecivityAD™ assays are precise, accurate, sensitive, and linear over a wide analytical range, free from significant interferences, and suitable for use in the clinical laboratory.

Deep venous thrombosis (DVT) is the most common complication in patients with traumatic fractures. The neutrophil extracellular traps (NETs) can promote thrombus formation. In this prospective study, we investigated the role of NETs in thrombosis in patients with traumatic fractures to evaluate whether the biomarkers of NETs can be used to help predict the risk of thrombosis.

Traumatic fracture patients were enrolled in this prospective observational cohort study. Healthy controls (Control); patients with lower extremity fractures who neither present with nor develop DVT (Trauma non-DVT); patients with lower extremity fractures who do not present with DVT but do develop DVT (Trauma DVT); and patients with lower extremity fractures who present with DVT (DVT) were included. NETs biomarker levels of Citrullinated Histone H3 (H3Cit), cell-free DNA (cfDNA) and nucleosomes in the plasma were determined. The D-dimer and fibrin(-ogen) degradation products (FDP) level in plasma was measured. Statistical analysis otrophils are involved in the formation of DVTs in patients with traumatic fractures. H3Cit and cfDNA can assist the diagnosis of DVT in patients with traumatic fractures.The sensitivity of cells to alterations in the microenvironment and in particular to external mechanical stimuli is significant in many biological and physiological circumstances. In this regard, experimental assays demonstrated that, when a monolayer of cells cultured on an elastic substrate is subject to an external cyclic stretch with a sufficiently high frequency, a reorganization of actin stress fibres and focal adhesions happens in order to reach a stable equilibrium orientation, characterized by a precise angle between the cell major axis and the largest strain direction. To examine the frequency effect on the orientation dynamics, we propose a linear viscoelastic model that describes the coupled evolution of the cellular stress and the orientation angle. We find that cell orientation oscillates tending to an angle that is predicted by the minimization of a very general orthotropic elastic energy, as confirmed by a bifurcation analysis. Moreover, simulations show that the speed of convergence towards the predicted equilibrium orientation presents a changeover related to the viscous-elastic transition for viscoelastic materials.

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