Miracle-dz/UniFAR-FTUs huggingface dataset:
patient-oriented and epidemiological research Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample

Recent genome-wide association studies (GWAS) have reproducibly identified loci associated with plasma triglycerides (TG), HDL cholesterol, and LDL cholesterol. We sought to replicate these findings in a multiethnic population-based cohort using the curated single nucleotide polymorphism (SNP) set found on the new Illumina cardiovascular disease (CVD) beadchip, which contains approximately 50,000 SNPs densely mapping approximately 2,100 genes, selected based on their potential role in CVD. The sample consisted of individuals with European (n 5 272), South Asian (n 5 330), and Chinese (n 5 304) ancestry. Identity by state clustering successfully classified individuals according to self-reported ethnicities. Associations between TG and APOA5 , TG and LPL , HDL and CETP , and LDL and APOE were all identified ( P , 2 3 10 2 6 ). In 13 loci, associations with the same SNP or a proxy SNP were identified in the same direction as previously reported ( P , 0.05). Assessing the cumulative number of risk-associated alleles at multiple replicated SNPs increased the proportion of explained lipoprotein variance over and above traditional variables such as age, sex, body mass index, and ethnicity. The findings indicate the potential utility of the Illumina CVD beadchip, but they underscore the need to consider meta-analysis of results from commonly studied clinical or epidemiological samples. — Lanktree, M. B. , S. S. Anand, S. Yusuf,
patient-oriented and epidemiological research Effects of cholesteryl ester transfer protein inhibition on apolipoprotein A-II-containing HDL subspecies and apolipoprotein A-II metabolism

This study was designed to establish the mechanism responsible for the increased apolipoprotein (apo) A-II levels caused by the cholesteryl ester transfer protein inhibitor torcetrapib. Nineteen subjects with low HDL cholesterol ( , 40 mg/dl), nine of whom were also treated with 20 mg of atorvastatin daily, received placebo for 4 weeks, followed by 120 mg of torcetrapib daily for the next 4 weeks. Six subjects in the nonatorvastatin cohort participated in a third phase, in which they received 120 mg of torcetrapib twice daily for 4 weeks. At the end of each phase, subjects underwent a primed-constant infusion of [5,5,5- 2 H 3 ] L -leucine to determine the kinetics of HDL apoA-II. Relative to placebo, torcetrapib significantly increased apoA-II concentrations by reducing HDL apoA-II catabolism in the atorvastatin ( 2 9.4%, P , 0.003) and nonatorvastatin once- ( 2 9.9%, P 5 0.02) and twice- ( 2 13.2%, P 5 0.02) daily cohorts. Torcetrapib significantly increased
patient-oriented and epidemiological research Comparison of the effects of maximal dose atorvastatin and rosuvastatin therapy on cholesterol synthesis and absorption markers

We measured plasma markers of cholesterol synthesis (lathosterol) and absorption (campesterol, sitosterol, and cholestanol) in order to compare the effects of maximal doses of rosuvastatin with atorvastatin and investigate the basis for the significant individual variation in lipid lowering response to statin therapy. Measurements were performed in participants (n 5 135) at baseline and after 6 weeks on either rosuvastatin (40 mg/day) or atorvastatin (80 mg/day) therapy. Plasma sterols were measured using gas-liquid chromatography. Rosuvastatin and atorvastatin significantly ( P , 0.001) altered plasma total cholesterol (C) levels by 2 40%, and the ratios of lathosterol/C by 2 64% and 2 68%, and campesterol/C by 1 52% and 1 72%, respectively, with significant differences ( P , 0.001) between the treatment groups for the latter parameter. When using absolute values of these markers, subjects with the greatest reductions in both synthesis (lathosterol) and absorption (campesterol) had significantly greater reductions in total C than subjects in whom the converse was true ( 2 46% versus variables. Linear regression analyses were also used to investigate the association of baseline levels of plasma sterols with changes in total cholesterol and LDL-C levels and changes in lathosterol and campesterol with changes in total cholesterol and LDL-C. In these models, changes in total cholesterol and LDL-C respectively served as dependent variables, while age, gender, statin treatment, and alternatively baseline levels of plasma sterols and changes in plasma sterol served as independent variable. A P value smaller than 0.05 was considered statistical significant and all analyses were performed using STATA version 10.0. statin
Runoff from heterogeneous small bare catchments during soil surface sealing

The combined effects of areal heterogeneity of the soil hydraulic properties and the surface seal formation dominate the hydrological response of arid and semiarid water catchments. Here these two phenomena were simulated to study their mutual role in runoff generation in small bare catchments. Seal formation during rainfall was simulated applying the dynamic model of Assouline and Mualem (1997). Areal heterogeneity of the soil was represented by a lognormal distribution of the saturated hydraulic conductivity of the initially undisturbed soil, Ks, and by related distributions of the other soil parameters. The runoff hydrograph, at the outlet of a hypothetical bare catchment of 0.5 km2, was calculated using the cell model of Diskin et al. (1984). Two water catchments types, homogeneous and heterogeneous, with two different soil surface states, unsealed (mulched) and ongoing dynamic sealing, were considered. Four spatial organizations of the 10 cells in the heterogeneous catchment, all representing the same discrete distribution of Ks, were studied. Rainfall events of two rainfall intensities, 20 and 40 mm h−1, of different durations ranging from 10 to 120 min, were applied uniformly over the catchments to study the effect of rainfall intensity and duration on runoff characteristics under the different soils and catchments conditions. The state of the soil surface seal was found to be a dominant factor with regard to runoff generation. Relative to the runoff produced in the homogeneous unsealed catchment under a (40 mm h−1, 45 min) rainfall, the runoff was augmented by a factor of 10 during soil surface sealing and still more, by a factor of 20, when the soil surface was already sealed. On a relative basis the impact of soil sealing on runoff is much more important than that of soil heterogeneity. The effect of areal heterogeneity on runoff seems to depend on both the soil surface condition and the rainfall intensity and duration. When the soil is unsealed, the total runoff and the discharge peak are higher for the heterogeneous catchment. When the soil surface undergoes a sealing process, the total runoff and the discharge peak are higher for the heterogeneous catchment for the lower rainfall intensity of 20 mm h−1. For the 40 mm h−1 rainfall the catchment relative response was found to depend on the rainfall duration. A higher peak was obtained in the homogeneous catchment for rainfall durations above 60 min, and more runoff was produced for rainfall durations above 90 min. The spatial pattern of the cell organization in the heterogeneous catchment is an additional factor affecting the hydrological response. The hydrographs corresponding to each of four patterns representing the same areal heterogeneity displayed differences regarding concentration time (which varied between 7 and 28 min), timing of the peak runoff (varying between 77 and 146 min), and the peak discharge (varying between 0.41 and 0.57 m3 s−1).
Evaluation of Accelerometer-Based Fall Detection Algorithms on Real-World Falls

Despite extensive preventive efforts, falls continue to be a major source of morbidity and mortality among elderly. Real-time detection of falls and their urgent communication to a telecare center may enable rapid medical assistance, thus increasing the sense of security of the elderly and reducing some of the negative consequences of falls. Many different approaches have been explored to automatically detect a fall using inertial sensors. Although previously published algorithms report high sensitivity (SE) and high specificity (SP), they have usually been tested on simulated falls performed by healthy volunteers. We recently collected acceleration data during a number of real-world falls among a patient population with a high-fall-risk as part of the SensAction-AAL European project. The aim of the present study is to benchmark the performance of thirteen published fall-detection algorithms when they are applied to the database of 29 real-world falls. To the best of our knowledge, this is the first systematic comparison of fall detection algorithms tested on real-world falls. We found that the SP average of the thirteen algorithms, was (mean±std) 83.0%±30.3% (maximum value = 98%). The SE was considerably lower (SE = 57.0%±27.3%, maximum value = 82.8%), much lower than the values obtained on simulated falls. The number of false alarms generated by the algorithms during 1-day monitoring of three representative fallers ranged from 3 to 85. The factors that affect the performance of the published algorithms, when they are applied to the real-world falls, are also discussed. These findings indicate the importance of testing fall-detection algorithms in real-life conditions in order to produce more effective automated alarm systems with higher acceptance. Further, the present results support the idea that a large, shared real-world fall database could, potentially, provide an enhanced understanding of the fall process and the information needed to design and evaluate a high-performance fall detector.
Altered Excitatory-Inhibitory Balance in the NMDA-Hypofunction Model of Schizophrenia

Schizophrenia is a common psychiatric disorder of high incidence, affecting approximately 1% of the world population. The essential neurotransmitter pathology of schizophrenia remains poorly defined, despite huge advances over the past half-century in identifying neurochemical and pathological abnormalities in the disease. The dopamine/serotonin hypothesis has originally provided much of the momentum for neurochemical research in schizophrenia. In recent years, the attention has, however, shifted to the glutamate system, the major excitatory neurotransmitter in the CNS and towards a concept of functional imbalance between excitatory and inhibitory transmission at the network level in various brain regions in schizophrenia. The evidence indicating a central role for the NMDA-receptor subtype in the aetiology of schizophrenia has led to the NMDA-hypofunction model of this disease and the use of phencyclidines as a means to induce the NMDA-hypofunction state in animal models. The purpose of this review is to discuss recent findings highlighting the importance of the NMDA-hypofunction model of schizophrenia, both from a clinical perspective, as well as in opening a line of research, which enables electrophysiological studies at the cellular and network level in vitro. In particular, changes in excitation–inhibition (E/I) balance in the NMDA-hypofunction model of the disease and the resulting changes in network behaviours, particularly in gamma frequency oscillatory activity, will be discussed.
Complementary relationship between daily evaporation in the environment and pan evaporation

Daily actual evaporation observed locally is compared to daily pan evaporation to clarify and test the validity of the complementary relationship at this timescale. For this purpose, use was made of actual evaporation measurements at two sites, namely, in the Konza Prairie, Kansas, during the First International Satellite Land Surface Climatology Project (ISLSCP) Field Experiment, and in the Little Washita River Basin, Oklahoma, as part of the Atmospheric Radiation Measurement Program. The corresponding pan evaporation data were obtained from nearby class A pan stations. The results of the analyses confirm the complementary relationship at this shorter timescale and lead to a procedure to estimate actual landscape evaporation by means of net radiation and pan evaporation data; they also provide support for the notion that even under conditions of decreasing incoming radiation, a negative trend in pan evaporation may still indicate a positive trend in landscape evapotranspiration.
From Genotype to Phenotype : Nonsense Variants in SLC 13 A 1 are Associated with Decreased 3 Serum Sulfate and Increased Serum Aminotransferases

Title Page 1 2 From Genotype to Phenotype: Nonsense Variants in SLC13A1 are Associated with Decreased 3 Serum Sulfate and Increased Serum Aminotransferases 4 5 *Christina G. Tise, 1033 West Barre Street, Baltimore, MD 21230; 6 christina.tise@som.umaryland.edu 7 James A. Perry, 685 West Baltimore Street, MSTF Room 357, Baltimore, MD 21201; 8 jperry@medicine.umaryland.edu 9 Leslie E. Anforth, 135 Strummer Lane Gaithersburg, MD 20878; lanforth@umaryland.edu 10 Mary A. Pavlovich, 685 West Baltimore Street, MSTF Room 357, Baltimore, MD 21201; 11 mpavlovich@medicine.umaryland.edu 12 Joshua D. Backman, 660 West Redwood Street, Howard Hall 460, Baltimore, MD 21201; 13 joshua.backman@umaryland.edu 14 Kathleen A. Ryan, 685 West Baltimore Street, MSTF Room 357, Baltimore, MD 21201; 15 kryan@medicine.umaryland.edu 16 Joshua P. Lewis, 660 West Redwood Street, Howard Hall 498, Baltimore, MD 21201; 17 jlewis2@medicine.umaryland.edu 18 Jeffrey R. O’Connell, 685 West Baltimore Street, MSTF Room 300 B, Baltimore, MD 21201; 19 joconnel@medicine.umaryland.edu 20 Laura M. Yerges-Armstrong, 709 Swedeland Road, UW2230, King of Prussia, PA 19406; 21 laura.m. yerges-armstrong@gsk.com 22 G3: Genes|Genomes|Genetics Early Online, published on July 13, 2016 as doi:10.1534/g3.116. 032979
Parental involvement in school : What promotes and what hinders parental involvement in an urban school

Avhandlingens overgripande syfte ar att forvarva kunskap om vad som framjar respektive vad som hindrar foraldrasamverkan i en grundskola med elever i skolaren 6-9 belagen i ett invandrartat omrade, samt na en battre forstaelse av hur foraldrar med arabisk bakgrund och larare ser pa foraldrasamverkan i skolan. Ett ytterligare och beslaktat syfte ar att battre forsta hur dessa foraldrar kan stodjas pa ett satt som mojliggor for dem att oka sin upplevelse av medverkan i den skola som deras barn gar i. Studien behandlar ocksa fragan om hur och i vilken utstrackning foraldrarna ar delaktiga i sina barns utbildning i dessa olika bemarkelser. For att fa svar pa dessa fragor tas en integrerad ansats i ansprak, i vilken saval kritisk etnografi samt participatorisk aktionsforskning tillampas. Bourdieus teorier om kapital, habitus, falt, symbolisk makt samt symboliskt vald, agenter och doxa anvands som analytiska begrepp analysverktyg for klargora vad som framjar respektive hindrar foraldrasamverkan pa en skola belagen i ett invandrartatt omrade. Resultaten presenteras i sex kapitel. Foraldrarna talar om sin brist pa kunskap om skolvasendet och forevisar en stor vilja att lara for att komma narmare skolan och kunna hjalpa sina barn. Lararna talar om olika typer av hinder sasom foraldrarnas sprakliga brister samt kulturella och religiosa faktorer.
Asymmetric ionospheric outflow observed at the dayside magnetopause

An important source of the terrestrial magnetospheric plasma is the Earth's ionospheric outflows from the high‐latitude regions of both hemispheres. The ionospheric ion outflows have rarely been observed at the dayside magnetopause. We report Cluster observations of the ionospheric ion outflows observed at the dayside magnetopause. The low‐energy (up to 1.5 keV) electrons are detected with bidirectional pitch angle distributions indicating that the magnetic field lines are closed. The unidirectional cold ions (< 200 eV) are observed in the magnetosphere by both C1 and C3. The pitch angle distributions (0∘–75∘) of the cold ions (< 1 keV) at the dayside magnetopause indicate that these cold ions are the ionospheric outflows coming only from the Southern Hemisphere. The cold ions (< 200 eV) fluxes are modulated by the ULF wave electric field. Two different species (possibly H+ and He+) are observed in the magnetosphere. Our results suggest that the ionospheric outflows can directly reach the dayside magnetopause region and may participate in the reconnection process.
Mechanisms Limiting a Vertebrate Invasion: Brook Trout in Mountain Streams of the Northwestern USA

I used multiple approaches to study brook trout invasions in mountainous streams of Idaho and Montana, USA. After studying marked fish in experimental reaches and fish distributions throughout a drainage, I concluded that larger brook trout (95mm) moved more than smaller ones and were probably responsible for most dispersal leading to invasion. Contrary to earlier hypotheses, poor swimming ability did not prevent brook trout from ascending streams with channel slopes of 13 % over 67 m. During the summer, brook trout moved upstream more than downstream even in the steepest experimental areas. Nearly vertical drops in steep reaches rather than steep slopes per se, prevented upstream movements. In downstream-directed invasions (originating from headwater lakes), brook trout apparently dispersed downstream through 80 % slopes and over 18-m-high waterfalls and occupied steeper stream channels than they appear capable of ascending. In the South Fork Salmon River drainage, Idaho, little change in upstream brook trout distribution limits occurred over 25 years. In the three streams where invasion occurred, the average apparent invasion rate was 5 to 11 m per year, suggesting that invasion may have occurred in pulses. Dispersal ability clearly limited invasion in several streams, but not in others. Invasion of accessible habitat is not necessarily inevitable in the short term (several decades), but because brook trout can ascend steep streams, more area is accessible than commonly assumed and may ultimately be invaded. Brook trout annual growth rate (measured by length at age) declined upstream in a non-lake-fed stream but increased upstream in a lake-fed stream and was correlated with stream temperature in age classes 0 and 1. Later maturation and reduced fecundity associated with slow growth were sufficient to substantially reduce upstream subpopulation growth rate unless compensated by increased survival. Life-stage simulation analyses indicated that early age class survival rates and early maturation had strong effects on population growth. In the non-lake-fed stream, patchier recruitment of age 0 fish and slower growth upstream likely contributed to creating the distribution limit. Patterns and processes observed were consistent with the idea that source-sink dynamics help to sustain distributions of brook trout in streams.
Effects of soil heterogeneity on steady state soil water pressure head under a surface line source

There are numerous analytical solutions available for flow in unsaturated homogeneous porous media. In this paper, the stream tube model for one‐dimensional water movement is extended to two‐dimensional (2‐D) water movement from a line source as the stream plane model. As well, new solutions are derived to predict the mean and variance of pressure head of water movement under a surface line source in heterogeneous soil using the perturbation method with first‐order approximation (PM1) and with second‐order approximation (PM2). A variance expression was also developed based on the spectral relationship presented by Yeh et al. [1985a] . The new solutions were tested using the 2‐D stream plane model with parameters A = ln(α) and Y = ln(KS) and measurements from field experiments. Results show that the mean of steady state pressure head below the line source is not only a function of the mean parameter values but also a function of the variances of A and Y and the linear cross‐correlation coefficient (ρ) between A and Y. The PM2 model can predict the mean pressure head accurately in heterogeneous soils at any level of correlation between A and Y, except when both the soil variability and ρ are high. The pressure head variance estimation based on the PM1 model predicts the measured variance well only when both the soil variability and ρ are low. The field experimental results show that both the PM1 and the spectral models give reasonable predictions of the pressure head variance. Both the measured and predicted values of the variance of pressure head using the two models increase with the depth of soil. Both models show that the variance of pressure head decreases as the source strength increases, but on average, the pressure head variance was underestimated by both models.
Identification of Tspan9 as a novel platelet tetraspanin and the collagen receptor GPVI as a component of tetraspanin microdomains

Platelets are essential for wound healing and inflammatory processes, but can also play a deleterious role by causing heart attack and stroke. Normal platelet activation is dependent on tetraspanins, a superfamily of glycoproteins that function as ‘organisers’ of cell membranes by recruiting other receptors and signalling proteins into tetraspanin-enriched microdomains. However, our understanding of how tetraspanin microdomains regulate platelets is hindered by the fact that only four of the 33 mammalian tetraspanins have been identified in platelets. This is because of a lack of antibodies to most tetraspanins and difficulties in measuring mRNA, due to low levels in this anucleate cell. To identify potentially platelet-expressed tetraspanins, mRNA was measured in their nucleated progenitor cell, the megakaryocyte, using serial analysis of gene expression and DNA microarrays. Amongst 19 tetraspanins identified in megakaryocytes, Tspan9, a previously uncharacterized tetraspanin, was relatively specific to these cells. Through generating the first Tspan9 antibodies, Tspan9 expression was found to be tightly regulated in platelets. The relative levels of CD9, CD151, Tspan9 and CD63 were 100, 14, 6 and 2 respectively. Since CD9 was expressed at 49000 cell surface copies per platelet, this suggested a copy number of 2800 Tspan9 molecules. Finally, Tspan9 was shown to be a component of tetraspanin microdomains that included the collagen receptor GPVI (glycoprotein VI) and integrin α6β1, but not the von Willebrand receptor GPIbα or the integrins αIIbβ3 or α2β1. These findings suggest a role for Tspan9 in regulating platelet function in concert with other platelet tetraspanins and their associated proteins.
Selective Amygdalohippocampectomy

Epilepsy surgery can be an effective epilepsy treatment for patients whose seizures do not respond to best medical therapy. For patients with temporal lobe epilepsy, selective amygdalohippocampectomy (SAH) has emerged as a viable alternative to standard anterior temporal lobectomy. This paper reviews the indications for SAH, the technical advances that have led to greater adoption of the procedure, the expectations for seizure control, and the risks of morbidity.
An improved method of determining near-surface Q

We performed field measurements using the modified method of spectral ratios to estimate shallow seismic Q. Three component seismograms from artificial sources were recorded to determine QP and QS in the unconsolidated sedimentary layer at the experimental site. This modified spectral ratio method was assumed to be frequency dependent, and the amplitude ratios then were plotted against the arrival‐time difference of any two receivers for one particular frequency. The slope of the regression line in the log‐amplitude‐time space yields a Q for each frequency. Results show that Q is a function of frequency in the frequency range (below 300 Hz) we tested. A simple mathematical derivation with experimental data strongly suggests that the Q of shallow seismic waves is frequency dependent. Corrections for geometric spreading are used; however, the original and corrected Qs show no significant difference in our data, and therefore the geometric factor may be ignored in this problem. The conventional frequency‐ind.