Quantifying Head Injury Severity Following Pediatric Patient Falls

The purpose of this study was to retrospectively calculate the head injury criteria (HIC) values for pediatric patient falls and correlate these values to documented injury severity (MERP) scores. A second purpose was to examine the relationship between child ages and associated HIC15 values in an attempt to scale the values obtained from pediatrics to adult values

Hypoxia alters the epigenetic profile in cultured human placental trophoblasts

The mechanisms by which the placenta adapts to exogenous stimuli to create a stable and healthy environment for the growing fetus are not well known. Low oxygen tension influences placental function, and is associated with preeclampsia, a condition displaying altered development of placental trophoblast. We hypothesized that oxygen tension affects villous trophoblast by modulation of gene expression through DNA methylation. We used the Infinium HumanMethylation450 BeadChip array to compare the DNA methylation profile of primary cultures of human cytotrophoblasts and syncytiotrophoblasts under < 1%, 8% and 20% oxygen levels. We found no effect of oxygen tension on average DNA methylation for either cell phenotype, but a set of loci became hypermethylated in cytotrophoblasts exposed for 24 h to < 1% oxygen, as compared with those exposed to 8% or 20% oxygen. Hypermethylation with low oxygen tension was independently confirmed by bisulfite-pyrosequencing in a subset of functionally relevant genes including CD59, CFB, GRAM3 and ZNF217. Intriguingly, 70 out of the 147 CpGs that became hypermethylated in < 1% oxygen overlapped with CpG sites that became hypomethylated upon differentiation of cytotrophoblasts into syncytiotrophoblasts. Furthermore, the preponderance of altered sites was located at AP-1 binding sites. We suggest that AP-1 expression is triggered by hypoxia and interacts with DNA methyltransferases (DNMTs) to target methylation at specific sites in the genome, thus causing suppression of the associated genes that are responsible for differentiation of villous cytotrophoblast to syncytiotrophoblast

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

Autism spectrum disorder is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susceptibility to autism spectrum disorder, showing de novo and inherited unbalanced copy number variants and smaller insertions and deletions (indels), more complex structural variants, as well as single-nucleotide variants deemed of pathological significance. However, the phenotypes associated with many of these genes are variable, and penetrance is largely unelaborated in clinical descriptions. This case report describes a family harboring two copy number variant microdeletions, which affect regions of NRXN1 and MBD5 - each well-established in association with risk of autism spectrum disorder and other neurodevelopmental disorders. Although each copy number variant would likely be categorized as pathologically significant, both genomic alterations are transmitted in this family from an unaffected father to the proband, and shared by an unaffected sibling. This family case illustrates the importance of recognizing that phenotype can vary among exon overlapping variants of the same gene, and the need to evaluate penetrance of such variants in order to properly inform on risks

Achievement goals and motivational responses in tennis: Does the context matter?

Objectives: This study examined: (a) whether athletes’ goal orientations differ across training and competition; (b) whether goal orientations predict effort, enjoyment, and psychological skill use differently in training and competition; and (c) whether goal orientations predict perceived improvement in training and perceived performance in competition. Method: Participants were 116 competitive tennis players (mean age = 19.99, SD = 5.82), who completed questionnaires measuring goal orientations, effort, enjoyment, and psychological skill use in training and competition, perceived improvement in training, and perceived performance in competition. Results: Dependent t-tests revealed that athletes reported higher task orientation in training than in competition and higher ego orientation in competition than in training, while Pearson product-moment correlations revealed a high cross-contextual consistency for both task and ego goal orientations between training and competition. Regression analyses indicated that task orientation predicted positively effort, enjoyment, self-talk, and goal setting in both contexts, perceived improvement in training, and perceived performance in competition. An interaction effect also emerged whereby ego orientation predicted positively effort in competition only when task orientation was low or average. Conclusions: The findings suggest that goal orientations may differ between training and competition; task orientation is the goal that should be promoted in both contexts; and the context may affect the relationship between goal orientations and effort, enjoyment, and goal setting

Semi-leptonic decays of heavy mesons and the Isgur-Wise function in quenched lattice QCD

The form factors for the semi-leptonic B->D and B->D* decays are evaluated in quenched lattice QCD at two different values of the coupling, beta=6.0 and 6.2. The action and the operators are fully O(a) non-perturbatively improved. The slope of the Isgur-Wise function is evaluated, and found to be rho^2=0.83^{+15+24}_{-11-1} (quoted errors are statistical and systematic respectively). Ratios of form factors are evaluated and compared to experimental determinations.Comment: 21 pages, 10 figure

Gauge Theories on a 2+2 Anisotropic Lattice

The implementation of gauge theories on a four-dimensional anisotropic lattice with two distinct lattice spacings is discussed, with special attention to the case where two axes are finely and two axes are coarsely discretized. Feynman rules for the Wilson gauge action are derived and the renormalizability of the theory and the recovery of the continuum limit are analyzed. The calculation of the gluon propagator and the restoration of Lorentz invariance in on-shell states is presented to one-loop order in lattice perturbation theory for $SU(N_c)$ on both 2+2 and 3+1 lattices.Comment: 27 pages, uses feynmf. Font compatibility adjuste

Wildland fire in ecosystems: Effects of fire on soil and water

This state-of-knowledge review about the effects of fire on soils and water can assist land and fire managers with information on the physical, chemical, and biological effects of fire needed to successfully conduct ecosystem management, and effectively inform others about the role and impacts of wildland fire. Chapter topics include the soil resource, soil physical properties and fire, soil chemistry effects, soil biology responses, the hydrologic cycle and water resources, water quality, aquatic biology, fire effectson wetland and riparian systems, fire effects models, and watershed rehabilitation

Exact Hypersurface-Homogeneous Solutions in Cosmology and Astrophysics

A framework is introduced which explains the existence and similarities of most exact solutions of the Einstein equations with a wide range of sources for the class of hypersurface-homogeneous spacetimes which admit a Hamiltonian formulation. This class includes the spatially homogeneous cosmological models and the astrophysically interesting static spherically symmetric models as well as the stationary cylindrically symmetric models. The framework involves methods for finding and exploiting hidden symmetries and invariant submanifolds of the Hamiltonian formulation of the field equations. It unifies, simplifies and extends most known work on hypersurface-homogeneous exact solutions. It is shown that the same framework is also relevant to gravitational theories with a similar structure, like Brans-Dicke or higher-dimensional theories.Comment: 41 pages, REVTEX/LaTeX 2.09 file (don't use LaTeX2e !!!) Accepted for publication in Phys. Rev.

Rare and Low Frequency Genomic Variants Impacting Neuronal Functions Modify the Dup7q11.23 Phenotype

© 2021, The Author(s). Background: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifest the ASD phenotype. To assess the contribution of additional genetic variants to the Dup7 phenotype, we conducted whole-genome sequencing analysis of 20 Dup7 carriers: nine with ASD (Dup7-ASD) and 11 without ASD (Dup7-non-ASD). Results: We identified three rare variants of potential clinical relevance for ASD: a 1q21.1 microdeletion (Dup7-non-ASD) and two deletions which disrupted IMMP2L (one Dup7-ASD, one Dup7-non-ASD). There were no significant differences in gene-set or pathway variant burden between the Dup7-ASD and Dup7-non-ASD groups. However, overall intellectual ability negatively correlated with the number of rare loss-of-function variants present in nervous system development and membrane component pathways, and adaptive behaviour standard scores negatively correlated with the number of low-frequency likely-damaging missense variants found in genes expressed in the prenatal human brain. ASD severity positively correlated with the number of low frequency loss-of-function variants impacting genes expressed at low levels in the brain, and genes with a low level of intolerance. Conclusions: Our study suggests that in the presence of the same pathogenic Dup7 variant, rare and low frequency genetic variants act additively to contribute to components of the overall Dup7 phenotype

Impact of Continuous Flow Left Ventricular Assist Device Therapy on Chronic Kidney Disease: A Longitudinal Multicenter Study

Background: Many patients undergoing durable left ventricular assist device (LVAD) implantation suffer from chronic kidney disease (CKD). Therefore, we investigated the effect of LVAD support on CKD. Methods: A retrospective multicenter cohort study, including all patients undergoing LVAD (HeartMate II (n = 330), HeartMate 3 (n = 22) and HeartWare (n = 48) implantation. In total, 227 (56.8%) patients were implanted as bridge-to-transplantation; 154 (38.5%) as destination therapy; and 19 (4.7%) as bridge-to-decision. Serum creatinine measurements were collected over a 2-year follow-up period. Patients were stratified based on CKD stage. Results: Overall, 400 patients (mean age 53 ± 14 years, 75% male) were included: 186 (46.5%) patients had CKD stage 1 or 2; 93 (23.3%) had CKD stage 3a; 82 (20.5%) had CKD stage 3b; and 39 (9.8%) had CKD stage 4 or 5 prior to LVAD implantation. During a median follow-up of 179 days (IQR 28–627), 32,629 creatinine measurements were available. Improvement of kidney function was noticed in every preoperative CKD-stage group. Following this improvement, estimated glomerular filtration rates regressed to baseline values for all CKD stages. Patients showing early renal function improvement were younger and in worse preoperative condition. Moreover, survival rates were higher in patients showing early improvement (69% vs 56%, log-rank P = 0.013). Conclusions: Renal function following LVAD implantation is characterized by improvement, steady state and subsequent deterioration. Patients who showed early renal function improvement were in worse preoperative condition, however, and had higher survival rates at 2 years of follow-up