Miracle-dz/UniFAR-FTUs huggingface dataset:
Open Access Research Characterization of X-linked Snp Genotypic Variation in Globally Distributed Human Populations

which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Human X-linked variation An analysis of X-linked genetic variation in human populations provides insights into population structure and demographic patterns. Abstract Background: The transmission pattern of the human X chromosome reduces its population size relative to the autosomes, subjects it to disproportionate influence by female demography, and leaves X-linked mutations exposed to selection in males. As a result, the analysis of X-linked genomic variation can provide insights into the influence of demography and selection on the human genome. Here we characterize the genomic variation represented by 16,297 X-linked SNPs genotyped in the CEPH human genome diversity project samples. Results: We found that X chromosomes tend to be more differentiated between human populations than autosomes, with several notable exceptions. Comparisons between genetically distant populations also showed an excess of X-linked SNPs with large allele frequency differences. Combining information about these SNPs with results from tests designed to detect selective sweeps, we identified two regions that were clear outliers from the rest of the X chromosome for haplotype structure and allele frequency distribution. We were also able to more precisely define the geographical extent of some previously described X-linked selective sweeps. Conclusions: The relationship between male and female demographic histories is likely to be complex as evidence supporting different conclusions can be found in the same dataset. Although demography may have contributed to the excess of SNPs with large allele frequency differences observed on the X chromosome, we believe that selection is at least partially responsible. Finally, our results reveal the geographical complexities of selective sweeps on the X chromosome and argue for the use of diverse populations in studies of selection. Background In humans, females typically carry two X chromosomes while males are haploid for almost all X-linked loci, complementing their one X chromosome with the smaller Y chromosome. This relatively small alteration to the standard of simple diploidy followed by all 22 autosomes has profound consequences for X-linked markers relative to their autosomal counterparts. Even under conditions of gender equality with respect to migration and population size, the smaller effective population size of the X chromosome means that drift may have a more profound influence upon it compared to the autosomes. Some repercussions of this are suggested by the results of Rosenberg et al. [1] and Ramachandran et al. [2], who observed that …
Effective bandwidth of multimedia traffic in packet wireless CDMA networks with LMMSE receivers: a cross-layer perspective

We propose a novel concept of cross-layer effective bandwidth that characterizes the unified resource usage taking into account both physical layer linear minimum mean square error (LMMSE) receivers and statistical characteristics of the packet traffic in code division multiple access (CDMA) networks. Based on the concept of cross-layer effective bandwidth, we develop an optimal connection admission control (CAC) scheme for variable bit rate packet traffic with QoS constraints at both physical and network layers. By introducing a small signal-to-interference ratio (SIR) outage probability using the concept of cross-layer effective bandwidth, the capacity of CDMA networks in the proposed CAC scheme can be increased significantly compared to some existing schemes. The effectiveness of the proposed approaches is demonstrated by numerical examples.
Genetics of SLE: Functional Relevance for Monocytes/Macrophages in Disease

Genetic studies in the last 5 years have greatly facilitated our understanding of how the dysregulation of diverse components of the innate immune system contributes to pathophysiology of SLE. A role for macrophages in the pathogenesis of SLE was first proposed as early as the 1980s following the discovery that SLE macrophages were defective in their ability to clear apoptotic cell debris, thus prolonging exposure of potential autoantigens to the adaptive immune response. More recently, there is an emerging appreciation of the contribution both monocytes and macrophages play in orchestrating immune responses with perturbations in their activation or regulation leading to immune dysregulation. This paper will focus on understanding the relevance of genes identified as being associated with innate immune function of monocytes and macrophages and development of SLE, particularly with respect to their role in (1) immune complex (IC) recognition and clearance, (2) nucleic acid recognition via toll-like receptors (TLRs) and downstream signalling, and (3) interferon signalling. Particular attention will be paid to the functional consequences these genetic associations have for disease susceptibility or pathogenesis.
Effective reinforcement learning following cerebellar damage requires a balance between exploration and motor noise

See Miall and Galea (doi: 10.1093/awv343 ) for a scientific commentary on this article. Cerebellar lesions impair both coordination and motor learning. Therrien et al. show that affected individuals can learn using a reinforcement mechanism despite a deficit in error-based motor learning. They also identify a critical feature of cerebellar patients’ movements (motor noise), which determines the effectiveness of learning under reinforcement.
Returning to productive activities: Perspectives of individuals with long-standing acquired brain injuries

Primary objective: The primary objective of this study was to understand how intrinsic and extrinsic factors influence productive involvement over time. Research design: Given this relatively unexplored area of study, an interpretive research paradigm was incorporated using the grounded theory methodology. Methods and procedures: Six participants were recruited based on inclusion criteria. They had been living with a brain injury for an average of 14 years. The primary method of data collection was semi-structured interviews, which was supplemented by programme reports to enhance methodological triangulation. Results: The results revealed that factors influencing involvement in productive activities over time were conceptually linked to learning about one's capacity. These factors involved: an opportunity to try, support and feedback from others, experimenting, and participants’ appraisals of themselves. Conclusions: Recommendations for clinical practice include incorporating the postulates of the social cognitive theory in rehabilitation and moving from a deficits approach towards a strengths model of practice.
Unobtrusive Assessment of Motor Patterns During Sleep Based on Mattress Indentation Measurements

This study investigates how integrated bed measurements can be used to assess motor patterns (movements and postures) during sleep. An algorithm has been developed that detects movements based on the time derivate of mattress surface indentation. After each movement, the algorithm recognizes the adopted sleep posture based on an image feature vector and an optimal separating hyperplane constructed with the theory of support vector machines. The developed algorithm has been tested on a dataset of 30 fully recorded nights in a sleep laboratory. Movement detection has been compared to actigraphy, whereas posture recognition has been validated with a manual posture scoring based on video frames and chest orientation. Results show a high sensitivity for movement detection (91.2%) and posture recognition (between 83.6% and 95.9%), indicating that mattress indentation provides an accurate and unobtrusive measure to assess motor patterns during sleep.
Sensitivity of pine flatwoods hydrology to climate change and forest management in Florida, USA

Pine flatwoods (a mixture of cypress wetlands and managed pine uplands) is an important ecosystem in the southeastern U.S. However, long-term hydrologic impacts of forest management and climate change on this heterogeneous landscape are not well understood. Therefore, this study examined the sensitivity of cypress-pine flatwoods hydrology to climate change and forest management by using the physically based, distributed hydrologic modeling system, MIKE SHE. The model was first calibrated and validated with a long-term data set, and then applied using several hypothetical scenarios developed in north central Florida. Our study showed that MIKE SHE could simulate the temporal and spatial dynamics of the shallow ground-water table. The model also identified and confirmed three horizontal ground-water flow patterns at this study site. The modeling results suggested that forest removal and climate change (i.e., warming and drying) would have pronounced impacts on the ground-water table during the dry periods, but these impacts may be minor under wet conditions at this typical flatwoods landscape. At the landscape scale, depressional wetlands may have higher responses to tree removal and climate change than surrounding uplands.
Solution for high-performance Schottky-source/drain MOSFETs: Schottky barrier height engineering with dopant segregation technique

A novel approach for achieving high-performance Schottky-source/drain MOSFETs (SBTs: Schottky Barrier Transistors) is proposed. The dopant segregation (DS) technique is employed and significant modulation of Schottky barrier height is demonstrated. The DS-SBT fabricated with the current CoSi/sub 2/ process show competitive drive current and better short-channel-effect immunity compared to the conventional MOSFET. In conclusion the DS-Schottky junction is useful for the source/drain of advanced MOSFETs.
Immunoglobulins and left ventricular structure and function in pediatric HIV infection.

BACKGROUND Progressive left ventricular (LV) dilation is common in children infected with HIV-1 and may be a harbinger of congestive heart failure (CHF). In many HIV-infected children, dilation is associated with inadequate LV hypertrophy, elevated afterload, and reduced LV function. Because CHF has been observed empirically to improve after treatment with intravenous immunoglobulin (IVIG) in other conditions and because LV dysfunction in pediatric HIV may be immunologically mediated, we examined retrospectively the relation between immunoglobulins and LV structure and function in 49 HIV-infected infants and children without CHF. METHODS AND RESULTS A total of 106 echocardiograms were performed in these children within 30 days of serum immunoglobulin (IgG, IgA, and IgM) measurements; this includes 12 children treated with IVIG therapy. All echocardiographic parameters, blood pressures, and immunoglobulins were adjusted for age or body surface area and subjected to repeated-measures regression. Regression models were adjusted simultaneously for endogenous IgA, IgG, IgM, IVIG therapy, zidovudine therapy, age, HIV disease stage, and weight. Higher endogenous serum IgG levels and IVIG treatment were associated with significantly greater wall thickness and lower peak wall stress. Higher endogenous serum IgA levels were associated with more normal LV wall thickness and LV thickness-to-dimension ratios. LV contractility, fractional shortening, end-systolic wall stress, and thickness-to-dimension ratio all showed a trend toward more normal values with higher endogenous immunoglobulin values or during IVIG treatment. CONCLUSIONS LV structure and function appear to be more normal in HIV-infected children who receive IVIG treatment and in those with higher endogenous IgG levels. These results suggest that both the impaired myocardial growth and the LV dysfunction observed may be immunologically mediated and responsive to immunomodulatory therapy.
Transfer times for patients with extradural and subdural haematomas to neurosurgery in Greater Manchester

Delay in transfer of patients with acute extradural (EDH) or subdural (SDH) haematoma to definitive neurosurgical evacuation has a detrimental effect on outcome. From July 2003 to December 2005 we undertook a prospective analysis of patients admitted to our unit for neurosurgical evacuation of their haematoma, who were transferred from non-neurosurgical hospitals. Data was collected for: 1) overall transfer time, 2) time taken from injury or deterioration to CT scan, 3) time from CT scan to arrival at our unit, and 4) time from arrival at our unit to surgery. Overall 81 patients were eligible, of which 39 had an EDH and 42 a SDH. The median transfer times for EDH and SDH were 5.25 hours and 6.0 hours respectively. This paper discusses the factors that may prolong delays in the transfer of patients between hospitals and the way in which our unit is trying to improve the local service for the population of Greater Manchester.
Aid for Trade Policy in Developing and Least Developed Countries: A GTAP Simulation Analysis

Recent global initiatives on debt relief and development assistance call for increasing aid for trade to the poorest countries. We apply a multi-country computable general equilibrium model, to analyze if aid for trade offers the possibility that, instead of the developing and least developed countries’ being worse off—as so many were as the result of the last round of trade negotiations—they will actually be better off. Alternative aid for trade scenarios have been evaluated in terms of effectiveness and equity. Our findings show that aid for trade policies expand trade and alleviate inequalities. The developing and least developed countries will benefit mainly from aid for trade assistance that helps these countries with any transitional adjustment costs from liberalization and increases factor productivity. Effectiveness of aid for trade is enforced if income transfers from donors are fairly divided amongst the recipient countries.
Parameter Sensitivity of the Noah-MP Land Surface Model with Dynamic Vegetation

Abstract The Noah land surface model with multiple parameterization options (Noah-MP) includes a routine for the dynamic simulation of vegetation carbon assimilation and soil carbon decomposition processes. To use remote sensing observations of vegetation to constrain simulations from this model, it is necessary first to understand the sensitivity of the model to its parameters. This is required for efficient parameter estimation, which is both a valuable way to use observations and also a first or concurrent step in many state-updating data assimilation procedures. We use variance decomposition to assess the sensitivity of estimates of sensible heat, latent heat, soil moisture, and net ecosystem exchange made by certain standard Noah-MP configurations that include the dynamic simulation of vegetation and carbon to 43 primary user-specified parameters. This is done using 32 years’ worth of data from 10 international FluxNet sites. Findings indicate that there are five soil parameters and six (or more) veg.
Intravenous administration of low molecular weight and unfractionated heparin elicits a rapid increase in serum pregnancy-associated plasma protein A.

BACKGROUND Pregnancy-associated plasma protein A (PAPP-A) has been suggested as a useful diagnostic and prognostic marker in acute coronary syndromes. Because low molecular weight heparin (LMWH) and unfractionated heparin (UFH) are commonly used in these cases, we analyzed the effects of intravenous administration of these heparins on serum PAPP-A concentrations. METHODS Serum concentrations of total and free PAPP-A were analyzed in 14 patients on chronic hemodialysis and in 10 coronary angiography patients. Ten of the dialysis patients received standard LMWH anticoagulation at the start of dialysis, and 4 were treated with a heparin-free method. Two of the patients on heparin-free hemodialysis received a reduced LMWH bolus 2 h after the start of dialysis. All angiography patients received UFH at the start of the procedure, and 1 patient received 2 extra boluses of UFH. Serum PAPP-A concentrations were analyzed before and during the dialysis session and during the coronary angiography examination. RESULTS A rapid increase in total PAPP-A (median, 25-fold) was seen in all patients within 5 min of administration for both LMWH and UFH boluses. This response was due to an increase in free PAPP-A in the serum. PAPP-A did not increase significantly in the patients who underwent heparin-free hemodialysis. Repeated heparin boluses induced a new PAPP-A release. In vitro addition of heparins to samples of whole blood did not increase PAPP-A concentrations. CONCLUSIONS Intravenous administration of heparin induces an intense and rapid increase in free PAPP-A in the serum. We recommend that this effect be considered when PAPP-A is assessed as a biomarker in acute coronary syndromes.
Secretion of plasminogen activator inhibitor-1 from cultured human umbilical vein endothelial cells is induced by very low density lipoprotein.

Clinical studies have demonstrated an impaired fibrinolytic function in patients with angiographically ascertained coronary artery disease or previous myocardial infarction. This decreased fibrinolytic function is to a major extent explained by the presence of high plasma levels of plasminogen activator inhibitor-1 (PAI-1) and is most common in patients with hyperlipoproteinemias type IIB and IV. To further investigate the association between hypertriglyceridemia and elevated plasma levels of PAI-1, cultured human umbilical vein endothelial cells were exposed to purified lipoproteins isolated from normo- and hypertriglyceridemic (NTG and HTG) individuals. We found that very low density lipoprotein (VLDL) from both NTG and HTG subjects stimulated the secretion of PAI-1 from endothelial cells in a dose-dependent manner. HTG-VLDL at a concentration of 100 micrograms/ml gave rise to a 73% increase in PAI-1 secretion as compared to control cultures, whereas NTG-VLDL only gave rise to a 30% increase (p less than 0.05), indicating that HTG-VLDL is a more potent stimulus to PAI-1 secretion than is NTG-VLDL. Experiments in which endothelial cells were exposed to VLDL subfractions indicated that large VLDL particles, in particular, induce PAI-1 release. Binding experiments demonstrated a specific cellular binding of both NTG- and HTG-VLDL to the cells, but HTG-VLDL bound about four times more effectively than NTG-VLDL. Exposure of the endothelial cells to an LDL receptor antibody was found to block 75% (p less than 0.005) of the VLDL-induced secretion of PAI-1 from the cells. (ABSTRACT TRUNCATED AT 250 WORDS)
The Combined Effects of Surface Trips and Unsteady Wakes on the Boundary Layer Development of an Ultra-High-Lift LP Turbine Blade

An experimental investigation of the combined effects of upstream unsteady wakes and surface trips on the boundary layer development on an ultra-high-lift low-pressure turbine blade, known as T106C, is described. The incoming wakes are not strong enough to periodically suppress the large separation bubble on the smooth suction surface of the T106C blade. Therefore, the profile loss is not reduced as much as might be possible. The first part of this paper concerns the parametric study of the effect of surface trips on the profile losses to optimise the trip parameters. The parametric study included the effects of size, type and location of the surface trips under unsteady flow conditions. The surface trips were straight cylindrical wires, straight rectangular steps, wavy rectangular steps or wavy cylindrical wires. The second part studies the boundary layer development on the suction surface of the T106C linear cascade blade with and without the recommended surface trips to investigate the loss reduction mechanism. It is found that the selected surface trip does not induce transition immediately but hastens the transition process in the separated shear layer underneath the wakes and between them. In this way, the combined effects of the surface trip and unsteady wakes further reduce the profile losses. This passive flow control method can be used over a relatively wide range of Reynolds numbers.Copyright © 2004 by ASME
Frequency And Pattern Of Bone Marrow Involvement Among Patients With Non Hodgkin Lymphoma.

BACKGROUND Non-Hodgkin lymphoma (NHLs) are a heterogeneous group of lymphoid neoplasms, characterized by an irregular pattern of spread and may present with extranodal involvement This study was conducted to determine the frequency and pattern of Bone marrow involvement on trephine biopsy in cases of Non-Hodgkin lymphoma (NHL). METHODS This cross sectional study was conducted in Pathology department of Fauji Foundation Hospital (FFH)/Foundation University medical college (FUMC) Rawalpindi, from14th December 2010 to 14th December 2011. One hundred and six patients with histopathologically confirmed Non-Hodgkin lymphoma on lymph node (LN) biopsy, who had not received any chemotherapy were selected and Bone Marrow (BM) trephine biopsies for staging were performed on them. RESULTS Out of one hundred and six patients, forty five (42.5%) were diagnosed to have Bone Marrow involvement on staging. The most common pattern was diffuse, i.e., 44.44%, followed by the interstitial infiltrate in 28.89%, focal and mixed constituted 11.11% each, and paratrabecular pattern was found in 4.44%. CONCLUSIONS This study highlights the high incidence of involvement and diffuse pattern in the Bone marrow biopsies of newly diagnosed Non-Hodgkin lymphoma, both of which indicate poor prognosis.
Wavefront aberration outcomes of LASIK for high myopia and high hyperopia.

PURPOSE To determine the higher order aberrations at the corneal first surface after conventional LASIK for high myopia and high hyperopia. METHODS This was a retrospective study using a convenience sample with subjects divided into five groups by level of refractive correction. Group 1 were normals, having no eye disease or previous surgery, but may have had refractive error. Group 2 had low myopia (-1.00 to -5.87 D), group 3 high myopia (> 6.00 D), group 4 low hyperopia (+1.00 to +3.87 D), and group 5 high hyperopia (> 4.00 D). LASIK was performed using a Technolas 217 laser. Corneal topography was taken with Orbscan II, and Placido data exported to VOLPro software v6.71. Wavefront aberrations were determined for a 6.0-mm pupil. RESULTS The study included 264 subjects-group 1 (normal), n=204; group 2 (low myopia), n=20; group 3 (high myopia), n=20; group 4 (low hyperopia), n=10; and group 5 (high hyperopia), n=10. The spherical equivalent refractive error corrected (mean +/-SD) was 0.00 +/- 0.00 D in group 1, -3.92 +/- 1.47 D in group 2, -9.53 +/- 2.06 D in group 3, +2.49 +/- 0.51 D in group 4, and +5.54 +/- 1.22 D in group 5. The total higher order root-mean-square (RMS) wavefront aberration was 0.38 +/- 0.07 microm in group 1, 0.69 +/- 0.22 microm in group 2, 1.36 +/- 1.79 microm in group 3, 0.64 +/- 0.34 microm in group 4, and 1.76 +/- 0.54 microm in group 5. Spherical aberration was 0.25 +/- 0.06 mcirom in group 1, 0.45 +/- 0.11 microm in group 2, 0.64 +/- 0.29 microm in group 3, -0.11 +/- 0.15 microm in group 4, and -0.56 +/- 0.22 microm in group 5. The refractive correction (Rx) was highly correlated to total higher order RMS for myopic correction higher order RMS = 0.38 - 0.07 Rx, R2=0.52, and for hyperopic correction higher order RMS = 0.18 + 0.28 Rx, R2 = 0.75. CONCLUSIONS Conventional LASIK increases all corneal higher order aberrations with induced aberrations increasing with the magnitude of refractive correction. High refractive corrections, both myopic (>6.00 D) and hyperopic (>5.00 D), can lead to very high levels of corneal higher order aberrations.