bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome-Wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations
Authors: Yang Tie-Lin , Guo Yan , Zhang Ji-Gang , Xu Chao , Tian Qing , Deng Hong-Wen 
Published: May 2015

ABSTRACT Runs of homozygosity (ROHs), in which both parental alleles are identical, have been proposed to have recessive effects on multiple human complex diseases. Osteoporosis is a common complex disease characterized by low bone mineral density (BMD), which is highly heritable. And recessive loci that contribute to BMD variations have been identified. In this study, we performed a genome-wide ROHs association study using our SNP array data from three GWAS samples including 4,900 subjects from Caucasian and Chinese populations. Significant results were further subjected to replication in 3,747 additional subjects. ROHs associated with BMD were also tested for associations with osteoporotic fractures in a GWAS fracture sample. Combining results from all the samples, we identified 697 autosomal regions with ROHs. Among these, we detected genome-wide significant associations between BMD and 6 ROHs, including ROH1q31.3, 1p31.1, 3q26.1, 11q12.1, 21q22.1 and 15q22.3 (combined P = 6.29 × 10-5 - 3.17 × 10-8). Especially, ROH1p31.1 was found to be associated with increased risk of osteoporotic hip fractures (odds ratio [OR] = 3.71, P = 0.032). To investigate the functional relevance of the identified ROHs, we performed cis-expression quantitative trait locus (eQTL) analysis in lymphoblast cell lines. Three ROHs, including ROH1p31.1, 11q12.1, and 15q22.3, were found to be significantly associated with mRNA expression levels of their nearby genes (PeQTL &lt; 0.05). In summary, our findings reveal that ROHs could play as recessive-acting determinants contributing to the pathogenesis of osteoporosis. Further molecular and functional studies are needed to explore and clarify the potential mechanism. © 2015 American Society for Bone and Mineral Research.
Subcortical gray matter segmentation and voxel‐based analysis using transverse relaxation and quantitative susceptibility mapping with application to multiple sclerosis
Authors: Cobzas Dana , Sun Hongfu , Walsh Andrew J. , Lebel R. Marc , Blevins Gregg , Wilman Alan H. 
Published: May 2015

PurposeTo investigate subcortical gray matter segmentation using transverse relaxation rate (R2*) and quantitative susceptibility mapping (QSM) and apply it to voxel‐based analysis in multiple sclerosis (MS).Materials and MethodsVoxel‐based variation in R2* and QSM within deep gray matter was examined and compared to standard whole‐structure analysis using 37 MS subjects and 37 matched controls. Deep gray matter nuclei (caudate, putamen, globus pallidus, and thalamus) were automatically segmented and morphed onto a custom atlas based on QSM and standard T1‐weighted images. Segmentation accuracy and scan–rescan reliability were tested.ResultsWhen considering only significant regions as returned by the multivariate voxel‐based analysis, increased R2* and QSM was found in MS subjects compared to controls in portions of all four nuclei studied (P < 0.002). For R2*, regional analysis yielded at least 66‐fold improved P‐value significance in all nuclei over standard whole‐structure analysis, while for QSM only thalamus benefited, with 5‐fold improvement in significance. Improved segmentation over standard methods, particularly for globus pallidus (2.8 times higher Dice score), was achieved by incorporating high‐contrast QSM into the atlas. Voxel‐based reliability was highest for QSM (<1% variation).ConclusionAutomatic segmentation of iron‐rich deep gray matter can be improved by incorporating QSM. Voxel‐based evaluation yielded increased R2* and QSM in MS subjects in all four nuclei studied with R2*, benefiting the most from localized analysis over whole‐structure measures. J. MAGN. RESON. IMAGING 2015;42:1601–1610.
Dedicated model for the efficient assessment of wireless power transfer in the radiative near‐field
Authors: Stockman Gert‐Jan , Rogier Hendrik , Ginste Dries Vande 
Published: May 2015

SummaryIn this paper, a novel method to efficiently calculate the power transfer efficiency of a wireless power transfer system in the radiative near‐field is proposed. The technique allows repositioning of the antennas without large additional cost. It relies on a single simulation (or measurement) of the radiation pattern of the antennas used. Thanks to its high computational efficiency, it can be used in multi‐transmitter and multi‐receiver scenarios when there is no coupling between devices via the reactive near‐field. Our method is applied to the latter to demonstrate its accuracy and computational efficiency. Copyright © 2015 John Wiley & Sons, Ltd.
High‐resolution climate simulations with COSMO‐CLM over Italy: performance evaluation and climate projections for the 21st century
Authors: Bucchignani Edoardo , Montesarchio Myriam , Zollo Alessandra Lucia , Mercogliano Paola 
Published: May 2015

ABSTRACTThis study presents the results of dynamically downscaled climate simulations over Italy produced with the COSMO‐CLM model. Three simulations forced by ERA‐Interim Reanalysis were conducted respectively at a spatial resolution of 0.22°, 0.125° and 0.0715° over the period 1979–2011. The results were analysed in terms of 2‐m temperature and precipitation with the aim of assessing the model's ability to reproduce these important features of the Italian climate. The results were validated by comparing model output with different independent observational datasets. Values of temperature and precipitation show a general good agreement with observations, with a fair reduction of errors in all seasons as the resolution is increased. Two simulations at a spatial resolution of 0.0715°, driven by the global model CMCC‐CM, were performed over the period 1971–2100, employing the IPCC RCP4.5 and RCP8.5 scenarios. Climate projections show a significant warming expected in Italy at the end of the 21st century, along with a general reduction in precipitation, particularly evident in spring and summer.
Stream metabolism and the open diel oxygen method: Principles, practice, and perspectives
Authors: Demars Benoît O. L. , Thompson Joshua , Manson J. Russell 
Published: May 2015

AbstractGlobal quantitative estimations of ecosystem functions are vital. Among those, ecosystem respiration and photosynthesis contribute to carbon cycling and energy flow to food webs. These can be estimated in streams with the open channel diel oxygen method (single or two stations) essentially relying on a mass balance of oxygen over a defined reach. The method is generally perceived as low cost and easy to apply with new drift free optic sensors. Yet, it remains challenging on several key issues reviewed here: measurements of gas transfer at the air‐water interface, appropriate mixing of tracers, uncertainty propagation in the calculations, spatial heterogeneity in oxygen concentrations, the derivation of net primary production (NPP) or autotrophic respiration, and the temperature dependence of photosynthesis and respiration. An extremely simple modeling tool is presented in an Excel workbook recommended for teaching the basic principles of the method. The only method able to deal with stream spatial heterogeneity is the method by Demars et al. Example data, Excel workbook, and R script are provided to run stream metabolism calculations. Direct gas exchange determination is essential in shallow turbulent streams, but modeling may be more accurate in large (deep) rivers. Lateral inflows should be avoided or well characterized. New methods have recently been developed to estimate NPP using multiple diel oxygen curves. The metabolic estimates should not be systematically temperature corrected to compare streams. Other recent advances have improved significantly the open channel diel oxygen method, notably the estimation of respiration during daylight hours.
Influence of age on the absorption, metabolism, and excretion of cocoa flavanols in healthy subjects
Authors: Rodriguez‐Mateos Ana , Cifuentes‐Gomez Tania , Gonzalez‐Salvador Isidro , Ottaviani Javier I. , Schroeter Hagen , Kelm Malte , Heiss Christian , Spencer Jeremy P. E. 
Published: May 2015

ScopeAn understanding of the pharmacokinetics of structurally related (−)‐epicatechin metabolites (SREM) is a prerequisite for considering cocoa flavanols (CF) in the context of dietary recommendations. The objective of this study was to compare the absorption, metabolism, and excretion of SREM in healthy young and elderly Caucasian men.Methods and resultsIntraindividual variability of SREM was assessed in seven young subjects, after consuming 10.7 mg CF/kg body weight (BW) on two occasions separated by 1 week. The effect of age on flavanols ADME was assessed in 20 young (18–35 years) and 20 elderly (65–80 years) healthy male subjects receiving 5.3 and 10.7 mg total CF/kg BW or 1 g of acetaminophen as a control to compare differences in Phase II metabolism on three days separated by 1 week of wash‐out. Blood and urine samples were collected for 24‐h post consumption. The intraindividual variation, measured as CV(%) with respect to the area‐under‐the‐curve of the concentration over time (AUC(0‐6h)) of SREM, was 16%, while the interindividual variation in AUC(0‐6h), was 38%, comparable to acetaminophen (39%). The AUC(0‐6h) and the 24‐h excretion of total SREM was not significantly different between young and elderly subjects. At the high intake amount, the AUC(0‐6h) of (−)‐epicatechin‐3′‐β‐D‐glucuronide was greater in elderly subjects, whereas the AUC(0‐6h) of 3′‐O‐methyl‐(−)‐epicatechin‐5‐sulfate and 3′‐O‐methyl‐(−)‐epicatechin‐7‐sulfate as well as the 24‐h urinary excretion of γ‐valerolactone metabolites were lower in the elderly.ConclusionCocoa flavanols are absorbed, metabolized, and excreted in healthy young and elderly subjects with relatively small differences between the two groups.
Mathematical optimization of contrast concentration for t1‐weighted spoiled gradient echo imaging
Authors: Reeder Scott B. , Smith Matthew R. , Hernando Diego 
Published: May 2015

PurposeTo develop and validate closed form mathematical expressions that predict the optimal contrast agent concentration for the maximum T1‐weighted spoiled gradient echo (SGRE) signal.Theory and MethodsGadolinium and iron‐based contrast agents can have significant transverse relaxivity that leads to signal dropout with increasing contrast agent concentration. A mathematical expression for the “optimal” contrast agent concentration where recovery of longitudinal magnetization is offset by increasing transverse signal decay was derived. Expressions for the maximum possible SGRE signal were also derived. Three phantoms were constructed, each with varying concentrations of one of the following three agents: gadoteridol, gadobenate dimeglumine, and ferumoxytol. After measuring the longitudinal and transverse relaxivity of the three agents, the SGRE signal was measured in the phantoms over a wide range of flip angles and echo times.ResultsExcellent qualitative agreement between the SGRE signal behavior, optimal concentration, and optimal flip angle were observed between experimental measurements and theoretical predictions.ConclusionThis work provides validated mathematical expressions for contrast enhanced T1‐weighted SGRE imaging and may provide guidance for contrast dosing and injection protocols, as well as for novel pulse sequence design. Magn Reson Med 75:1556–1564, 2016. © 2015 Wiley Periodicals, Inc.
Contact‐free physiological monitoring using a markerless optical system
Authors: Maclaren Julian , Aksoy Murat , Bammer Roland 
Published: May 2015

PurposePhysiological noise remains a major problem in MRI, particularly at higher imaging resolutions and field strengths. The aim of this work was to investigate the feasibility of using an MR‐compatible in‐bore camera system to perform contactless monitoring of cardiac and respiratory information during MRI of human subjects.MethodsAn MR‐compatible camera was mounted on an eight‐channel head coil. Video data of the skin was processed offline to derive cardiac and respiratory signals from the pixel signal intensity and from head motion in the patient head–feet direction. These signals were then compared with data acquired simultaneously from the pulse oximeter and the respiratory belt.ResultsThe cardiac signal computed using the average image pixel intensity closely resembled the signal obtained using the pulse oximeter. Trigger intervals obtained from both systems matched to within 50 ms (one standard deviation). The respiratory signal computed from small in‐plane movements closely matched the signal obtained from the respiratory belt. Simultaneous MR imaging did not appear to have an effect on the physiological signals acquired by means of the contact‐free monitoring system.ConclusionContact‐free monitoring of human subjects to obtain cardiac and respiratory information is feasible using a small camera and light emitting diode mounted on the head coil of an MRI scanner. Magn Reson Med 74:571–577, 2015. © 2015 Wiley Periodicals, Inc.
Scheduling research and the first decade of NRLQ: A historical perspective
Authors: Panwalkar S.S. , Koulamas Christos 
Published: May 2015

AbstractIt is generally recognized that the first model involving job scheduling was presented by Selmer Johnson and published in the inaugural issue of Naval Research Logistics Quarterly (NRLQ) in 1954. NRLQ also published another seminal scheduling paper by Wayne E. Smith a short time later. In the present paper, we discuss the contribution of NRLQ and the role of the Office of Naval Research in the development of the scheduling literature during the first decade (1954–1963). We also provide a critical analysis of the papers by Johnson and Smith. © 2015 Wiley Periodicals, Inc. Naval Research Logistics 62: 335–344, 2015
Influence of drug adherence and medical care on heart failure outcome in the primary care setting in Austria
Authors: Marzluf Beatrice A. , Reichardt Berthold , Neuhofer Lisa M. , Kogler Bernhard , Wolzt Michael 
Published: May 2015

AbstractPurposeGuideline‐recommended therapy has been proven beneficial in heart failure (HF), but general implementation remains poor. The aim of this study was to evaluate the adherence to drug therapy, quality of primary non‐drug medical care (NDMC) and its impact on HF outcome.MethodsFrom 13 Austrian health insurance funds, we identified 36 829 patients (77.1 ± 10.8 years, 44.8% men) hospitalised for HF who survived more than 90 days after discharge in the period between April 2006 and June 2010. Drug adherence was analysed from prescriptions filled and NDMC from numbers of physician consultations and diagnostic tests relevant for HF per quarter of a year (medical care index (MedCI)) claimed from the insurance funds. Kaplan–Meier and multivariate Cox regression analyses were performed to identify the association of outcome (survival and death without further admission for HF, readmission for HF) with drug adherence and NDMC.ResultsReadmission due to HF or death without prior readmission for HF occurred in 19.7% and 22.5%, respectively. Adherence to angiotensin‐converting‐enzyme inhibitors or angiotensin receptor blockers, beta‐blockers and aldosterone antagonists was 49.3%, 40.4% and 16.1%, respectively, and was associated with better survival by Kaplan–Meier analysis. NDMC was consumed less frequently by deceased (76.0%; MedCI 2.55 ± 3.04) than surviving (79.3%; 3.60 ± 3.81) or readmitted (78.4%; 3.80 ± 4.13) patients (p < 0.001 for deceased vs both other). Drug adherence and NDMC were independent factors associated with better survival by multivariate regression analysis.ConclusionGuideline‐recommended drug therapy remains underutilised in Austria. Drug adherence and quality of NDMC are associated with better outcome in HF patients. Copyright © 2015 John Wiley & Sons, Ltd.
Quality of life of family caregivers 8 years after a relative's cancer diagnosis: follow‐up of the National Quality of Life Survey for Caregivers
Authors: Kim Youngmee , Shaffer Kelly M. , Carver Charles S. , Cannady Rachel S. 
Published: May 2015

AbstractBackgroundThe long‐term impact of cancer caregiving on the family caregivers' quality of life (QOL) is currently not known. This study aimed (a) to characterize family caregivers of cancer survivors at 8 years post‐diagnosis in terms of multidimensional aspects of QOL and (b) to identify demographic and early caregiving experience characteristics that may play significant roles in predicting the caregivers' longer‐term QOL.MethodsA total of 1087 caregivers participated in the 8‐year follow‐up National Quality of Life Survey for Caregivers. Demographics and early caregiving experiences were measured 2 years post‐diagnosis of their relative's cancer. Multidimensional aspects of QOL were assessed, including mental and physical health, psychological adjustment, and spirituality at both 2‐year and 8‐year post‐diagnosis.ResultsApproximately 90% of family caregivers ceased the caregiver role by 8 years. One‐fourth of them were due to bereavement. Caregivers' demographic and early caregiving characteristics were significantly associated with QOL. In addition, being bereaved by the 8‐year mark predicted poorer mental health and greater psychological distress independent of contributions of demographic and early caregiving characteristics.ConclusionsFindings provided the first evidence that 8 years after the initial cancer diagnosis in the family, family members who became bereaved suffer from poorer mental health and greater psychological distress. Findings have theoretical implications for better understanding bereavement to cancer and practical implications for developing integrative programs to improve QOL among family members in the various phases of caregivership. Copyright © 2015 John Wiley & Sons, Ltd.
Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel from Embryonic Stem Cell-Derived Self-Forming Retina
Authors: Lakowski Jorn , Gonzalez-Cordero Anai , West Emma L. , Han Ya-Ting , Welby Emily , Naeem Arifa , Blackford Samuel J. I. , Bainbridge James W. B. , Pearson Rachael A. , Ali Robin R. , Sowden Jane C. 
Published: May 2015

Abstract
Loss of photoreceptors due to retinal degeneration is a major cause of untreatable blindness. Cell replacement therapy, using pluripotent stem cell-derived photoreceptor cells, may be a feasible future treatment. Achieving safe and effective cell replacement is critically dependent on the stringent selection and purification of optimal cells for transplantation. Previously, we demonstrated effective transplantation of post-mitotic photoreceptor precursor cells labelled by fluorescent reporter genes. As genetically labelled cells are not desirable for therapy, here we developed a surface biomarker cell selection strategy for application to complex pluripotent stem cell differentiation cultures. We show that a five cell surface biomarker panel CD73(+)CD24(+)CD133(+)CD47(+)CD15(−) facilitates the isolation of photoreceptor precursors from three-dimensional self-forming retina differentiated from mouse embryonic stem cells. Importantly, stem cell-derived cells isolated using the biomarker panel successfully integrate and mature into new rod photoreceptors in the adult mouse retinae after subretinal transplantation. Conversely, unsorted or negatively selected cells do not give rise to newly integrated rods after transplantation. The biomarker panel also removes detrimental proliferating cells prior to transplantation. Notably, we demonstrate how expression of the biomarker panel is conserved in the human retina and propose that a similar selection strategy will facilitate isolation of human transplantation-competent cells for therapeutic application. Stem Cells 2015;33:2469—2482
Moving Beyond Global Warming Potentials to Quantify the Climatic Role of Ecosystems
Authors: Neubauer Scott C. , Megonigal J. Patrick 
Published: May 2015

Abstract
For decades, ecosystem scientists have used global warming potentials (GWPs) to compare the radiative forcing of various greenhouse gases to determine if ecosystems have a net warming or cooling effect on climate. On a conceptual basis, the continued use of GWPs by the ecological community may be untenable because the use of GWPs requires the implicit assumption that greenhouse gas emissions occur as a single pulse; this assumption is rarely justified in ecosystem studies. We present two alternate metrics—the sustained-flux global warming potential (SGWP, for gas emissions) and the sustained-flux global cooling potential (SGCP, for gas uptake)—for use when gas fluxes persist over time. The SGWP is generally larger than the GWP (by up to ~40%) for both methane and nitrous oxide emissions, creating situations where the GWP and SGWP metrics could provide opposing interpretations about the climatic role of an ecosystem. Further, there is an asymmetry in methane and nitrous oxide dynamics between persistent emission and uptake situations, producing very different values for the SGWP vs. SGCP and leading to the conclusion that ecosystems that take up these gases are very effective at reducing radiative forcing. Although the new metrics are more realistic than the GWP for ecosystem fluxes, we further argue that even these metrics may be insufficient in the context of trying to understand the lifetime climatic role of an ecosystem. A dynamic modeling approach that has the flexibility to account for temporally variable rates of greenhouse gas exchange, and is not limited by a fixed time frame, may be more informative than the SGWP, SGCP, or GWP. Ultimately, we hope this article will stimulate discussion within the ecosystem science community about the most appropriate way(s) of assessing the role of ecosystems as regulators of global climate.
Parents’ Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis
Authors: Kiedrowski Lesli A. , Owens Kailey M. , Yashar Beverly M. , Schuette Jane L. 
Published: May 2015

AbstractChromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians and families. We explored the impact of such results on families, including parental knowledge, understanding and interpretation. Semi‐structured telephone interviews were conducted with parents (N = 14) who received genetic counseling for a VUS in their child. Transcripts were analyzed through an iterative coding process. Participants demonstrated a range of recall and personal interpretation regarding whether test results provided a causal explanation for their children's health issues. Participants maintained contradictory interpretations, describing results as answers while maintaining that little clarification of their child's condition had been provided. Reported benefits included obtaining medical services and personal validation. Parents described adaptation/coping processes similar to those occurring after positive test results. Recall of terminology, including “VUS” and precise CMA abnormalities, was poor. However, most demonstrated conceptual understanding of scientific uncertainty. All participants expressed intentions to return for recommended genetics follow‐up but had misconceptions about how this would occur. These results provide insight into the patient‐and‐family experience when receiving uncertain genomic findings, emphasize the importance of exploring uncertainty during the communication process, and highlight areas for potential attention or improvement in the clinical encounter.