Miracle-dz/UniFAR-FTUs huggingface dataset:
The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have repeatedly identified patients with DGS. We tested what proportion of DGS patients could be identified at birth by combined TREC and kappa-deleting element recombination circle (KREC) screening. Furthermore, we followed TREC/KREC levels in peripheral blood (PB) to monitor postnatal changes in lymphocyte production. Methods TREC/KREC copies were assessed by quantitative PCR (qPCR) and were related to the albumin control gene in dry blood spots (DBSs) from control (n = 56), severe immunodeficiency syndrome (SCID, n = 10) and DGS (n = 13) newborns. PB was evaluated in DGS children (n = 32), in diagnostic samples from SCID babies (n = 5) and in 91 controls. Results All but one DGS patient had TREC levels in the normal range at birth, albeit quantitative TREC values were significantly lower in the DGS cohort. One patient had slightly reduced KREC at birth. Postnatal DGS samples revealed reduced TREC numbers in 5 of 32 (16%) patients, whereas KREC copy numbers were similar to controls. Both TREC and KREC levels showed a more pronounced decrease with age in DGS patients than in controls (p<0.0001 for both in a linear model). DGS patients had higher percentages of NK cells at the expense of T cells (p<0.0001). The patients with reduced TREC levels had repeated infections in infancy and developed allergy and/or autoimmunity, but they were not strikingly different from other patients. In 12 DGS patients with paired DBS and blood samples, the TREC/KREC levels were mostly stable or increased and showed similar kinetics in respective patients. Conclusions The combined TREC/KREC approach with correction via control gene identified 1 of 13 (8%) of DiGeorge syndrome patients at birth in our cohort. The majority of patients had TREC/KREC levels in the normal range.
Kickboxing sport as a new cause of traumatic brain injury‐mediated hypopituitarism

Objective Traumatic brain injury, which is a frequent and a worldwide important public health problem, may result in pituitary dysfunction. Concussion, a common type of lesion after traumatic brain injury, is an injury associated with sports including boxing and kickboxing. Kickboxing is one of the most popular martial arts and approximately 1‐million people around the world participate in kickboxing sport. Head is the most common site of injury in amateur and professional kickboxers. Pituitary consequences of chronic repetitive head trauma in kickboxing have not been investigated until now. Therefore, the present study was designed to investigate the pituitary function in both retired and active amateur kickboxers.
Unsupervised Induction of Semantic Roles

Datasets annotated with semantic roles are an important prerequisite to developing high-performance role labeling systems. Unfortunately, the reliance on manual annotations, which are both difficult and highly expensive to produce, presents a major obstacle to the widespread application of these systems across different languages and text genres. In this paper we describe a method for inducing the semantic roles of verbal arguments directly from unannotated text. We formulate the role induction problem as one of detecting alternations and finding a canonical syntactic form for them. Both steps are implemented in a novel probabilistic model, a latent-variable variant of the logistic classifier. Our method increases the purity of the induced role clusters by a wide margin over a strong baseline.
Effects of platelet glycoprotein IIb-IIIa number and glycoprotein IIIa Leu33Pro polymorphism on platelet aggregation and sensitivity to glycoprotein IIb-IIIa antagonists

We investigated the influence of glycoprotein (GP) IIIa Leu33Pro polymorphism, platelet GP IIb-IIIa number, and plasma fibrinogen concentration on platelet aggregation and antiaggregatory action of GP IIb-IIIa antagonists. Healthy volunteers with GP IIIa Pro33(−) (Leu33Leu33, n = 20) and Pro33(+) (Leu33Pro33, n = 13, and Pro33Pro33, n = 2) genotypes were included into the study. GP IIIa Leu33Pro substitution was associated with the increase of the level and rate of platelet microaggregate formation induced by GP IIb-IIIa activating antibody CRC54 (100, 200, 400 µg/ml) against the epitope within 1–100 residues of GP IIIa N-terminal part (p from 0.001 to 0.047). No significant differences were detected between parameters of platelet aggregation induced by ADP (1.25, 2.5, 5.0, 20 µM) in GP IIIa Pro33(+) and Pro33(−) donors. GP IIb-IIIa antagonist Monafram (F(ab’)2 fragment of GP-IIb-IIIa blocking antibody CRC64) (1, 2, 3 µg/ml), but not eptifibatide (50, 100, 150 ng/ml) inhibited ADP-induced aggregation slightly less efficiently in GP IIIa Pro33(+) group (p < 0.05 at 1 and 2 µg/ml Monafram). GP IIb-IIIa number (evaluated as maximal binding of 125I-labelled antibody CRC64) varied from 40.5 to 80.8 × 103 per platelet with no significant influence of GP IIIa genotype. Consistent correlations were revealed between GP IIb-IIIa quantity and the level and rate of ADP-induced aggregation (r from 0.353 to 0.583, p from <0.001 to 0.037) as well as resistance (level of residual aggregation) to both GP IIb-IIIa antagonists (r from 0.345 to 0.602, p from <0.001 to 0.042). ADP-induced aggregation was considerably increased and efficiency of GP IIb-IIIa antagonists decreased in donors with high in comparison with low GP IIb-IIIa quantity (>60 and 40–50 × 103 per platelet respectively, p < 0.01 for most tests). No correlations were observed between all tested parameters and plasma fibrinogen concentration. Our results indicate that inter-individual variability of platelet GP IIb-IIIa number significantly affects platelet aggregation and antiaggregatory effects of GP IIb-IIIa antagonists. Contribution of this factor is higher than that of GP IIIa Leu33Pro polymorphism and variations of fibrinogen concentration.
Pretreatment with phytoestrogen-rich plant decreases breast tumor incidence and exhibits lower profile of mammary ERalpha and ERbeta.

OBJECTIVE Phytoestrogens have been reported to exhibit antiproliferation to human breast cancer cells in vitro. We tested the phytoestrogen-rich, Pueraria mirifica against rat breast cancer induction in vivo. METHODS The weanling female Spargue-Dawley rats were pretreated with P. mirifica tuberous powder at a dosage of 0, 10, 100 and 1000 mg/kg BW/day for four consecutive weeks. Mammary tumor development was then induced with a single dose of 7,12-DMBA, 80 mg/kg BW, followed by a weekly examination for size and multiplicity of mammary tumors for 20 weeks and finally a necropsy. Mammary tissues were investigated for the virulence of tumor and also monoclonal antibody stained against ERalpha and ERbeta. RESULTS Pretreatment of 1000 mg/(kgBWday) of P. mirifica tuberous powder resulted in decreasing of the virulence of rat tumor development. The mammary tumor tissues exhibited lower profile of ERalpha and ERbeta as well as ERalpha/ERbeta. CONCLUSION P. mirifica exhibited prevention of 7,12-DMBA-induced rat mammary tumors, with a proposed mechanism of strong competitive binding of its phytoestrogens to ERalpha and/or synthesis suppressor of ERalpha.
Individual differences in updating information during reading

INDIVIDUAL DIFFERENCES IN UPDATING INFORMATION DURING READING By Kristina L. Steiner University of New Hampshire, May, 2011 Causal information has been shown to help readers update outdated information (Rapp and Kendeou, 2007, 2009). Outdating occurs when integrating new information produces a conflict with encoded information that was encountered earlier in the text. There are also a number of individual differences among readers that influence how successful they will be at encoding, integrating, and outdating information including their reading skill, working memory capacity, and domain knowledge. This thesis examines how these individual differences impact how readers utilize causal information during updating. Across three experiments, participants were indexed as less-skilled or skilled readers using the Gates-MacGinitie Reading Test. Experiments 1 and 2 showed that skilled readers used causal information to update their representation of the text while less-skilled readers continued to show disruption from outdated information. The findings are examined in the discussion section.
In Vivo Bioorthogonal Chemistry Enables Local Hydrogel and Systemic Pro-Drug To Treat Soft Tissue Sarcoma

The ability to activate drugs only at desired locations avoiding systemic immunosuppression and other dose limiting toxicities is highly desirable. Here we present a new approach, named local drug activation, that uses bioorthogonal chemistry to concentrate and activate systemic small molecules at a location of choice. This method is independent of endogenous cellular or environmental markers and only depends on the presence of a preimplanted biomaterial near a desired site (e.g., tumor). We demonstrate the clear therapeutic benefit with minimal side effects of this approach in mice over systemic therapy using a doxorubicin pro-drug against xenograft tumors of a type of soft tissue sarcoma (HT1080).
Nitrogen circulation in a Mediterranean holm oak forest, La Castanya, Montseny, northeastern Spain

Abstract. The importance of storm frequency as well as the groundwater and hyporheic inputs on nitrate (NO 3 -N) and ammonium (NH 4 -N) levels in stream water were studied in a small perennial Mediterranean catchment, Riera Major, in northeast Spain. NO 3 -N concentrations ranged from 0.15 to 1.9 mg l -1 . Discharge explained 47% of the annual NO 3 -N concentration variance, but this percentage increased to 97% when single floods were analysed. The rate of change in nitrate concentration with respect to flow, ΔNO 3 -N/ΔQ, ranged widely from 0 to 20 μg NO 3 -N s l -2 . The ΔNO 3 -N/ΔQ values fitted to a non linear model with respect to the storm flow magnitude (ΔQ) (r 2 =0.48, d.f.=22, P 3 -N/ΔQ occurred at intermediate ΔQ values, whereas low ΔNO 3 -N/ΔQ values occurred during severe storms (ΔQ > 400 l s -1 ). N 3 -N concentrations exhibit anticlockwise hysteresis patterns with changing flow and the patterns observed for autumnal and winter storms indicated that groundwater was the main N 3 -N source for stream and hyporheic water. At baseflow, NO 3 -N concentration in groundwater was higher (t=4.75, d.f.=29, P>0.001) and co-varied with concentrations in the stream (r=0.91, d.f.=28, P 3 -N concentration in hyporheic water was identical to that in stream water. The role of the hyporheic zone as source or sink for ammonium was studied hyporheic was studied comparing its concentrations in stream and hyporheic zone before and after a major storm occurred in October 1994 that removed particulate organic matter stored in sediments. Results showed high ammonium concentrations (75±28 s.d. μg NH 4 -N l -1 ) before the storm flow in the hyporheic zone. After the storm, the ammonium concentration in the hyporheic dropped by 80% (13.6±8 μg N 4 -N l -1 ) and approached to the level found in stream water (11±8 μg NH 4 -N l -1 ) indicating that indisturbed hyporheic sediments act as a source for ammonium. After the storm, the ammonium concentrations in the stream, hyporheic and groundwater zones were very similar suggesting that stream ammonium concentrations are sustained mainly by input from groundwater. The present study provides evidence that storm flow magnitude is an important source of variability of nitrate concentration and fluxes in Mediterranean streams subjected to an irregular precipitation regime with prolonged dry periods. Keywords: nitrate, discharge regime, hyporheic zone, groundwater, Mediterranean, stream, Riera Major
Residual Spatial Correlation Between Geographically Referenced Observations: A Bayesian Hierarchical Modeling Approach

Background: Analytic methods commonly used in epidemiology do not account for spatial correlation between observations. In regression analyses, this omission can bias parameter estimates and yield incorrect standard error estimates. We present a Bayesian hierarchical model (BHM) approach that accounts for spatial correlation, and illustrate its strengths and weaknesses by applying this modeling approach to data on Wuchereria bancrofti infection in Haiti. Methods: A program to eliminate lymphatic filariasis in Haiti assessed prevalence of W. bancrofti infection in 57 schools across Leogane Commune. We analyzed the spatial pattern in the prevalence data using semi-variograms and correlograms. We then modeled the data using (1) standard logistic regression (GLM); (2) non-Bayesian logistic generalized linear mixed models (GLMMs) with school-specific nonspatial random effects; (3) BHMs with school-specific nonspatial random effects; and (4) BHMs with spatial random effects. Results: An exponential semi-variogram with an effective range of 2.15 km best fit the data. GLMM and nonspatial BHM point estimates were comparable and also were generally similar with the marginal GLM point estimates. In contrast, compared with the nonspatial mixed model results, spatial BHM point estimates were markedly attenuated. Discussion: The clear spatial pattern evident in the Haitian W. bancrofti prevalence data and the observation that point estimates and standard errors differed depending on the modeling approach indicate that it is important to account for residual spatial correlation in analyses of W. bancrofti infection data. Bayesian hierarchical models provide a flexible, readily implementable approach to modeling spatially correlated data. However, our results also illustrate that spatial smoothing must be applied with care.
Methods of Religious Coping with the Gulf War: Cross-Sectional and Longitudinal Analyses

Cross-sectional and longitudinal analyses were conducted to examine the relationship of religious and nonreligious coping methods to psychological distress among college students in the 1990-91 Gulf War crisis. Students completed measures of religious coping, nonreligious coping, and specific (war-related) and global psychological distress two days prior to the allied ground assault of Kuwait and one week after hostilities were suspended against Iraq. Religious coping activities were significant predictors of psychological distress cross-sectionally and longitudinally. Religious avoidant coping was associated with increased distress. Surprisingly, pleading for a miracle was tied to reduced distress over time. While religious and nonreligious coping were associated with each other, the two were not functionally redundant; each set of coping methods contributed unique variance to the prediction of distress. Differences between the cross-sectional and longitudinal findings suggest that stressful experiences may serve as a religious coping mobilizer and/or that the efficacy of religious coping methods may change over time. The results point to the need for finer-grained analyses of specific religious coping mechanisms in specific life situations.
Follow-Up Investigations on Different Courses of Natural Avian Bornavirus Infections in Psittacines

SUMMARY. To study the course of natural avian bornavirus (ABV) infection, 63 psittacines of three bird collections where ABV had been demonstrated were investigated over a period of 1 yr. The psittacines were clinically observed and swabs of crop and cloaca as well as serum samples were collected three separate times at intervals of 2–6 mo. According to the results of detection of ABV RNA by reverse transcriptase polymerase chain reaction (RT-PCR) and of anti-ABV antibodies by indirect immunofluorescence assay (IIFA), 43 of the birds were found to be infected with ABV. Based on variations in virus shedding and antibody production in combination with the occurrence of proventricular dilatation disease (PDD) –related clinical signs, pathological findings, and lethal outcome, four different groups of infected psittacines and a fifth group of noninfected psittacines were identified. Group 1 comprised six birds with various courses of ABV infection and forms of clinical PDD. Groups 2–4 included all birds with subclinical ABV infections: Group 2 contained 13 birds that were consistently (subgroup A, 6 birds) or inconsistently (subgroup B, 7 birds) ABV positive by PCR and serology; group 3 was composed of 13 psittacines exhibiting only anti-ABV antibodies; and 8 birds that had positive ABV RNA detection in crop and cloaca, but did not develop anti-ABV specific antibodies, were classified in group 4. Twenty-three out of the 63 psittacines remained free of detectable ABV RNA or anti-ABV antibodies over the whole observation period (group 5). Based on the results, it seems that birds with high ABV RNA load in crop and cloaca combined with high anti-ABV antibodies have a high risk of the development of PDD, indicating that the humoral antibodies do not protect against the disease. The meaning of the detection of ABV RNA and antibodies at a low and inconsistent level for the single bird as well as for the epidemiology of the ABV infection remained unclear in this field study and needs to be further investigated.
Structural and functional comparison of the genes for human platelet factor 4 and PF4alt.

Platelet factor 4 (PF4) is a 70 amino acid heparin-binding protein released from the alpha-granules of activated platelets. Its exact biologic function is not known, although PF4 is a member of a multigene family involved in chemotaxis, coagulation, inflammation, and cell growth. We previously cloned the cDNA for human PF4 from a human erythroleukemic (HEL) cell expression library. We now report the isolation and sequence determination of the gene for human PF4. This gene contains three exons and spans approximately 1,000 basepairs (bp). Concurrently, we have cloned a highly homologous gene that we have called PF4alt. We show that PF4 and PF4alt are non-allelic genes: the human PF4 gene is encoded on a 10 kilobasepairs (kb) EcoRI fragment, and its DNA sequence agrees with protein and cDNA data for PF4, while PF4alt is encoded in a polymorphic 3 or 5 kb EcoRI fragment. Compared with PF4, this gene has 14% DNA and 38% amino acid divergence in the signal peptide region, and 2.6% DNA and 4.3% amino acid divergence in the coding region of the mature protein. PF4alt contains three amino acid substitutions (P58----L, K66----E, and L67----H) near the C-terminus, in a region known to be critical for PF4 function. Primer extension studies show the 5'-untranslated region of PF4 is 73 bp long. A TATA box is present 30 bp 5' to the transcription start site. A 90 bp stretch of pyrimidines (including 53 consecutive thymidine residues) begins at -227 bp and is analogous to a similar region of 30 residues 5' to the rodent PF4 gene. This pyrimidine-rich region is absent from the PF4alt gene; however, DNA homology exists between the two human genes in the 5'- and 3'-flanking regions and extends for over 3.6 kb. Alternating purine/pyrimidine tracts occur both 5' and 3' to PF4 and PF4alt but do not define the endpoints of the gene duplication, which extend beyond these sequences at least at the 5' end. Northern blot analysis using gene-specific oligonucleotides and platelet RNA showed an 800 or 900 nucleotide (n) message for PF4 and PF4alt, respectively. Northern blot and primer extension studies show that steady-state platelet PF4 mRNA levels are approximately one magnitude greater than PF4alt mRNA levels. Thus, these studies demonstrate that PF4alt mRNA is expressed in platelets. Whether PF4alt protein is expressed remains to be determined, and the nature of its biologic function needs to be studied. (ABSTRACT TRUNCATED AT 400 WORDS)
Detection of Hard X-Rays from the Compton-Thick Seyfert 2 Galaxy NGC 2273 with Suzaku

We have obtained a broad-band spectrum of the Compton-thick Seyfert 2 galaxy NGC 2273 with Suzaku. The spectrum reveals the first detection of hard X-rays above � 10 keV from NGC 2273. The broad-band spectrum is well represented by a three component model, accompanied by both a strong iron K˛ line with an equivalent width of � 1.8 keV and several weak lines. The three component model consists of a soft component, a reflection component from cold matter, and an absorbed power law component. The soft component can be represented by thin thermal emission with kT � 0.56 keV or by a scattered component with a scattering fraction of 0.4%. Fixing the photon indices of the power law and reflection components at 1.9, we found that the power law component, heavily absorbed by gas with a column density of � 1.5 � 10 24 cm � 2 , has an intrinsic 2–10 keV luminosity of � 1.7 � 10 42 erg s � 1 . W e also applied a reflection model based on a Monte Carlo simulation, assuming a simple torus geometry. We found that the model fits the broad band spectrum well, and we placed some tentative constraints on the geometry of the putative torus in NGC 2273.
SECOND-ORDER SUFFICIENT OPTIMALITY CONDITIONS FOR OPTIMAL CONTROL OF STATIC ELASTOPLASTICITY WITH HARDENING

The paper is concerned with the optimal control of static elastoplasticity with linear kinematic hardening. This leads to an optimal control problem governed by an elliptic variational inequality (VI) of first kind in mixed form. Based on L p -regularity results for the state equation, it is shown that the control-to-state operator is Bouligand differentiable. This enables to establish second- order sufficient optimality conditions by means of a Taylor expansion of a particularly chosen Lagrange function.
Simulations of the Recovery Process of an Air-Coil SFCL

In this paper, a study of the recovery process of an air-coil superconducting fault current limiter (AC-SFCL) is done. Tests of an AC-SFCL prototype operating at normal conditions subjected to fault currents have been performed. After the interruption of the fault current, the system recovers its normal conditions in such a way that the recovery process of the AC-SFCL can be analyzed under load. Simulations have been performed in order to determine temperature and impedance profiles along the recovery period. Furthermore, simulation data were compared with current and voltage measurements to support the simulation model. Measured and simulated results agree well. The calculated recovery time corresponds to only few current cycles.
Do Women Still Care?: Cohort Changes in US Women’s Care for the Ill or Disabled

Increases in women’s labor-force participation and the time families spend at work have reduced the time families have available to care for one another. Recent evidence suggests that responses to these challenges vary for different types of care. While time spent on housework has declined, time devoted to care of children has increased. This paper examines cohort changes in another form of unpaid work, care for ill or disabled friends or family members, and assesses the influence of employment, attitudes, and need for care on age and cohort trends in carework. Using data from the National Longitudinal Surveys, we estimate age and cohort differences in carework among women born between 1922 and 1952. We find a decline in overall levels of carework among more recent birth cohorts of women. However, we do not find cohort changes in the probability that women will provide more intense levels of care, defined as nine or more hours of care per week. The amount of illness and disability among family members partially reduces differences between cohorts, but women’s employment and attitudes about work and family do little to clarify changing patterns of care. Overall, our findings suggest that, even after the large-scale social changes of the twentieth century, women will continue to provide carework when necessary. Thus, the real concern for families is not whether ill or disabled members will have care, but rather, whether their careworkers receive the institutional support required to successfully balance paid and unpaid work.