Miracle-dz/UniFAR-FTUs huggingface dataset:
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

Ebstein anomaly (EA) is a rare heart defect in which the tricuspid valve is malformed and displaced. The tricuspid valve abnormalities can lead to backflow of blood from the right ventricle to the right atrium, preventing proper circulation of blood to the lungs. Although the etiology of EA is largely unresolved, increased prevalence of EA in those with a family history of congenital heart disease suggests EA has a genetic component. Copy number variants (CNVs) are a major source of genetic variation and have been implicated in a range of congenital heart defect phenotypes. We performed a systematic, genome-wide search for CNVs in 47 isolated EA cases using genotyping microarrays. In addition, we used a custom HaloPlex panel to sequence three known EA genes and 47 candidate EA genes. We identified 35 candidate CNVs in 24 (51%) EA cases. Rare sequence variants in genes associated with cardiomyopathy were identified in 11 (23%) EA cases. Two CNVs near the transcriptional repressor HEY1, a member of the NOTCH signaling pathway, were identified in three unrelated cases. All other candidate CNVs were each identified in a single case. At least 11 of 35 candidate CNVs include genes involved in myocardial development or function, including multiple genes in the BMP signaling pathway. We identified enrichment of gene sets involved in histone modification and cardiomyocyte differentiation, supporting the involvement of the developing myocardium in the etiology of EA. Gene set enrichment analysis also identified ribosomal RNA processing, a potentially novel pathway of altered cardiac development in EA. Our results suggest an altered myocardial program may contribute to abnormal tricuspid valve development in EA. Future studies should investigate abnormal differentiation of cardiomyocytes as a potential etiological factor in EA.
Sublethal Total Body Irradiation Causes Long-Term Deficits in Thymus Function by Reducing Lymphoid Progenitors

Total body irradiation (TBI) damages hematopoietic cells in the bone marrow and thymus; however, the long-term effects of irradiation with aging remain unclear. In this study, we found that the impact of radiation on thymopoiesis in mice varied by sex and dose but, overall, thymopoiesis remained suppressed for ≥12 mo after a single exposure. Male and female mice showed a long-term dose-dependent reduction in thymic cKit+ lymphoid progenitors that was maintained throughout life. Damage to hematopoietic stem cells (HSCs) in the bone marrow was dose dependent, with as little as 0.5 Gy causing a significant long-term reduction. In addition, the potential for T lineage commitment was radiation sensitive with aging. Overall, the impact of irradiation on the hematopoietic lineage was more severe in females. In contrast, the rate of decline in thymic epithelial cell numbers with age was radiation-sensitive only in males, and other characteristics including Ccl25 transcription were unaffected. Taken together, these data suggest that long-term suppression of thymopoiesis after sublethal irradiation was primarily due to fewer progenitors in the BM combined with reduced potential for T lineage commitment. A single irradiation dose also caused synchronization of thymopoiesis, with a periodic thymocyte differentiation profile persisting for at least 12 mo postirradiation. This study suggests that the number and capability of HSCs for T cell production can be dramatically and permanently damaged after a single relatively low TBI dose, accelerating aging-associated thymic involution. Our findings may impact evaluation and therapeutic intervention of human TBI events.
VASCULAR VELOCITY MEASUREMENTS IN THE CENTRAL NERVOUS SYSTEM.

During the past four years, we have been interested in changes of circulation patterns of the human brain. Much has been written concerning the angiographic appearance of the circulation, and still more information has been compiled con cerning flow measurements as determined by the Fick principle. Because of finite periods of observation, the serial angiograms have given but a fleeting animated indication of the cerebral circulation, while measurements, as noted by the Fick principle, do not always reflect the cerebral flow or the true clinical ap pearance of the patient. The important arterial inputs and venous outputs of the brain can be meas ured by external collimated detectors.
Application service quality indication to end-users in IP based networks as added value service

Service provisioning in customer satisfying quality is one of the most important issues for network and content providers. Beside satisfying customers, the intention of network operators is to overcome the position of just being bit pipe providers. One approach is to use network provider assets to develop new services which could be sold to other network operators, content providers and to end-users. This paper introduces a methodology to develop new services derived from deployed or existing network architectures by means of a proposed cookbook. These new services can address a variety of functionalities and services which are needed to enable and enrich existing services or markets. The Graceful Denial of Service is presented as such a service. This added value service provides feedback to the end-user about the expectable service quality of an application service, e.g. a 3rd party video streaming service. For that purpose a central entity requests network capability status from the access network as well as the requirements (e.g. bandwidth demand) of the application service on the network capabilities. Based on this information the feedback is derived and presented to the user. It is expected that such a user quality indication feedback improves the quality of experience.
Orchiectomy Attenuates Post-ischemic Oxidative Stress and Ischemia/Reperfusion Injury in Mice

Males are much more susceptible to ischemia/reperfusion (I/R)-induced kidney injury when compared with females. Recently we reported that the presence of testosterone, rather than the absence of estrogen, plays a critical role in gender differences in kidney susceptibility to I/R injury in mice. Although reactive oxygen species and antioxidant defenses have been implicated in I/R injury, their roles remain to be defined. Here we report that the orchiectomized animal had significantly less lipid peroxidation and lower hydrogen peroxide levels in the kidney 4 and 24 h after 30 min of bilateral renal ischemia when compared with intact or dihydrotestosterone-treated orchiectomized males. The post-ischemic kidney expression and activity of manganese superoxide dismutase (MnSOD) in orchiectomized mice was much greater than in intact or dihydrotestosterone-administered orchiectomized mice. Four hours after 30 min of bilateral ischemia, superoxide formation was significantly lower in orchiectomized mice than in intact mice. In Madin-Darby canine kidney cells, a kidney epithelial cell line, 1 mm H2O2 decreased MnSOD activity, an effect that was potentiated by pretreatment with dihydrotestosterone. Orchiectomy prevented the post-ischemic decrease of catalase activity. Treatment of male mice with manganese(III) tetrakis(1-methyl-4-pyridyl)porphyrin (MnTMPyP), a SOD mimetic, reduced the post-ischemic increase of plasma creatinine, lipid peroxidation, and tissue hydrogen peroxide. These results suggest that orchiectomy accelerates the post-ischemic activation of MnSOD and reduces reactive oxygen species and lipid peroxidation, resulting in reduced kidney susceptibility to I/R injury.
Atto Joule CMOS gates using reversed sizing and W/L swapping

Voltage reduction is a very widely used low-power technique (as reducing dynamic power quadratically, and leakage power linearly) which does sacrifice performance. An alternate technique, which is much less explored/investigated, is to rely on currents instead. The paper presents a thorough but still preliminary comparison of a recently introduced CMOS design technique which limits/reduces currents, with both the conventional/classical CMOS design, and also with a fresh sub-threshold CMOS design specifically aimed for ultra-low power (ULP). The preliminary results reported here suggest that the new design could achieve: (i) significantly lower power than classical CMOS (20–60×) without drastically degrading performances (5–20×); (ii) much better performances (100–200×) than the ULP scheme considered at power levels which are manageable (10–40x); while (iv) surpassing both of them on power-delay-product (PDP) and energy-delay-product (EDP). In particular, our inverters in 16nm are able to break the atto-Joule barrier at 300mV, and exhibit a delay of about 9ns.
Response of Protein and Urea Kinetics in Burn Patients to Different Levels of Protein Intake

The effects of two levels of protein intake on protein metabolism in six severely burned adult patients were studied (x of 70% BSA burned). A crossover experimental design enabled the authors to study each patient at the end of two three-day dietary regimens. All diets were isocaloric and provided approximately 25% more calories than the measured energy expenditure (x = 40.8 Kcal/kg · day). In one regimen, each patient received 2.2 g protein/kg · day, while during the other treatment period they received 1.4 g protein/kg · day. The patients were studied in the fed state and after 10 to 12 hours of fasting. Leucine kinetics were determined by means of the primed-constant infusion of [1 - 13C] — leucine. The authors were able to distinguish the oxidation of plasma leucine from the oxidation of leucine derived from intracellular protein at the site of the deamination of leucine (predominantly muscle) by simultaneously determining both leucine and α-ketoisocaproic acid enrichment. Also, rates of whole-body protein synthesis and catabolism were calculated from the leucine flux and oxidation data. Net protein synthesis was also calculated by means of another stable-isotope technique involving the infusion of [15N2] — urea. Finally, a third means of estimating net protein catabolism based on urinary N-excretion data was used at the same time that the isotopic studies were performed. The 13C leucine-data and the N-excretion data indicated that a balance between protein synthesis and catabolism could be achieved with a protein intake of 1.4 protein/kg · day. When protein intake was increased to 2.2 g protein/kg · day, neither isotopic method indicated a further beneficial effect on net protein synthesis, although the absolute rates of protein synthesis and catabolism were stimulated. The N-excretion data, on the other hand, indicated a significant improvement in net protein synthesis with higher protein intake. Regardless of the level of protein intake, the underlying alterations in protein metabolism that occurred as a response to burn injury persisted.
Auto-ejection of liquid drops from capillary tubes

Abstract Wicking flow inside capillary tubes can attain considerable momentum so as to produce a liquid jet at the end of the tube. Auto-ejection refers to the formation of droplets at the tip of such a jet. Experimental observations suggest that a tapering nozzle at the end of the capillary tube is necessary for auto-ejection; it has never been reported for a straight tube. Besides, most experimental realizations require microgravity, although it is possible under normal gravity if the nozzle has a sufficiently sharp contraction. This computational study focuses on two related issues: the critical condition for auto-ejection, and the hydrodynamics of the liquid meniscus as affected by geometric parameters. We adopt a diffuse-interface Cahn–Hilliard model for the moving contact line, and allow the dynamic contact angle to deviate from the static one through wall energy relaxation. From analyzing the dynamics of the meniscus in the straight tube and the nozzle, we establish a critical condition for the onset of auto-ejection based on a Weber number defined at the exit of the nozzle and an effective length that encompasses the geometric features of the tube–nozzle combination. In particular, this shows that capillary ejection is not possible in straight tubes. With steeper contraction in the nozzle, we predict two additional regimes of interfacial rupture: rapid ejection of multiple droplets and air bubble entrapment. The numerical results are in general agreement with available experiments.
Acquiring Spatial Knowledge While Traveling Simple and Complex Paths with Immersive and Nonimmersive Interfaces

Exploration of virtual environments may be accomplished with different interface metaphors. Previous research suggests that vestibular and proprioceptive information provided by immersive interfaces facilitates spatial orientation on simple path-integration tasks. We examine whether these interface variables impact performance across paths of variable complexity. Our immersive interface provided all users the ability to conduct the search component of our task more efficiently. Our results, however, show that the immersive interface was no more effective than our nonimmersive one for maintaining orientation. In fact, the immersive interface had a negative impact on performance (absolute error) for individuals who had extensive experience with playing video games. When measured in terms of consistency of response, our results suggest that having extensive game-play experience will negatively impact orientation performance with both interfaces. We speculate that this is due to the conflicting nature of the skills that avid game players acquire in game-play versus those required to perform in our task.
Subcellular Localization of the GABAA Receptor γ2 Subunit in the Rat Spinal Cord

The fine subcellular organization of the GABAA receptor complex in the adult rat spinal ventral horn was analysed by immunocytochemistry using a specific polyclonal antiserum raised against the γ subunit. This subunit confers benzodiazepine sensitivity on the chloride channel of the GABAA receptor. With both fluorescent and peroxidase staining, the immunoreactivity was mainly observed in the grey matter and more specifically in the dorsal and ventral horns on medium and large neurons. A high number of immunostained somata were clustered in regions corresponding to motor nuclei. On the neuronal surface, labelling appeared as fluorescent dots over the more diffuse staining that was present on the soma and proximal part of dendrites. At the ultrastructural level, peroxidase end product was in most cases associated with the internal side of postsynaptic differentiations facing terminal boutons enriched with pleiomorphic small clear vesicles. The positively stained synapses were encountered on proximal dendrites of neurons and throughout the neuropil of the ventral horn (layers VII‐IX). An immunoreactivity on the postsynaptic membrane was occasionally found to decorate large pieces of membrane not directly apposed to presynaptic active zones. In addition, presynaptic labelling was observed at axoaxonic contacts and at extrasynaptic sites on membranes within boutons, sometimes themselves apposed to γ2 immunoreactivity. Finally, we also observed γ2 immunoreactivity at the cytosolic face of the plasma membrane of some glial elements. These results give morphological evidence for the involvement of GABAA receptors in both post‐ and presynaptic inhibition in the rat spinal ventral horn. The presence of γ2 subunit immunoreactivity at these different synaptic contacts suggests that the two types of inhibition can be modulated by benzodiazepine drugs. The findings also provide anatomical evidence for the possible regulation of GABA release through an autoreceptor, and for GABAergic communication between neuronal and glial components.
Who responds to placebos? Considering the “placebo personality” via a transactional model

The placebo effect is now recognised as a genuine psychobiological phenomenon; however, the question of how it can be systematically harnessed to improve health outcomes is not yet clear. One issue that remains unresolved is why some respond to placebos and others do not. A number of traits have been linked to responding, but findings are scattered. In extending prior work, this paper offers three considerations. First, attempts to describe the placebo responder via a single personality trait may be limiting. A synthesis of findings to date suggests placebo responsiveness may reflect a two-faceted construct, with “inward” and “outward” orientation representing the different but related facets of placebo responsiveness. Second, the lack of theoretically driven research may be hindering progress. Personality measures rather than personality theory appear to be driving research and higher order traits are descriptive tools with limited use in predicting behaviour. A biologically based stimulus–response model of personality that considers how individuals respond to certain environmental cues may be more appropriate. Third, a transactional model of placebo responding in which dispositional characteristics interact with environmental contingencies is presented. Responsiveness may manifest in placebo environments where there is a match between an individual’s biological trait-like response systems and environmental contingencies. This type of model may be useful in both research and clinical settings. Systematic consideration of how different individuals might respond to different placebo environments might facilitate identification of stable individual characteristics predictive of responding. The ability to determine who is responsive to placebo treatments, and in what context, may enable the matching of individual to treatment, thereby maximising the effectiveness of treatment and minimising possible iatrogenic harm. In the increasingly overtaxed modern health care industry, non-pharmacological treatment alternatives are of critical importance.
Role of Junctional Adhesion Molecule-Like Protein in Mediating Monocyte Transendothelial Migration

Objective—Monocyte migration across the vascular endothelium of blood vessels is a key early event in atherosclerosis. The mechanisms underlying monocyte transendothelial migration (TEM), however, are still not completely understood. Here we studied the role of junctional adhesion molecule-like protein (JAML) in regulating monocyte TEM. Methods and Results—Firstly, by Western blot and flow cytometry, we showed that JAML was strongly expressed in monocytes and monocyte surface expression of JAML was upregulated by monocyte chemotaxis protein-1 stimulation. Both monocyte adhesion to and migration across tumor necrosis factor-&agr; (TNF&agr;) preactivated human microvascular endothelial cell (HMEC-1) monolayers were dose-dependently reduced by anti-JAML antiserum or soluble extracellular JAML recombinant. Secondly, short-term exposure of human monocytes and THP-1 cells to advanced glycation end products increased cell surface JAML expression, which was correlated with enhanced cell adhesion and TEM. In contrast, knockdown of JAML in THP-1 monocytes decreased both adhesion and transmigration of THP-1 monocytes. Finally, direct binding assay of the soluble JAML to HMEC-1 monolayers suggested that endothelial coxsackie and adenovirus receptor (CAR) may serve as one of the ligands for JAML. Conclusions—Monocytic JAML plays a critical role in regulating monocyte TEM probably via binding to the endothelial CAR and other tight junction–associated adhesive molecules.
Normal appendix: is there any significant difference in the maximal mural thickness at US between pediatric and adult populations?

PURPOSE To evaluate the normal maximal mural thickness (MMT) of the appendix in asymptomatic subjects and determine whether any significant difference in MMT exists between pediatric and adult populations. MATERIALS AND METHODS The MMT of 187 appendices in asymptomatic subjects was measured at sustained-compression ultrasonography (US). The measured MMTs were categorized into three groups according to patient age (39 young children [including infants] aged 1-6 years, 79 older children and adolescents aged 7-15 years, 69 adolescents and adults aged 16-82 years), and the relationships between categoric variables were analyzed by using analysis of variance and the parametric Scheffé test. RESULTS The mean MMTs in the young children, older children and adolescent, and adolescent and adult groups were 1.9 mm +/- 0.4 (SD), 2.0 mm +/- 0.5, and 2.1 mm +/- 0.5, respectively. The corresponding ranges of normal MMT were 1.1-2.8, 1.0-2.8, and 1.2-3.0 mm, respectively. No significant difference in normal appendix MMT was observed between the young children group and the older children and adolescent group (P =.2) or between the older children and adolescent group and the adolescent and adult group (P =.639). The difference in MMT between the young children group and the adolescent and adult group was marginally significant (P =.042). CONCLUSION Although adoption of age-related MMT criteria does not seem warranted because it would necessitate measurement precision below 0.5 mm, which is not possible to achieve consistently in daily practice, data indicate that in children aged 6 years or younger, an appendiceal mural thickness of less than 3 mm should be regarded as normal.
Transcardiac Gradient of Aldosterone Before and After Spironolactone in Patients with Congestive Heart Failure

Summary: To evaluate the transcardiac extraction of aldosterone before and after spironolactone administration to patients with congestive heart failure, we measured the plasma aldosterone in the aortic root and the coronary sinus in eight congestive heart failure patients with dilated cardiomyopathy. The plasma aldosterone level was significantly lower in the coronary sinus than in the aortic root before spironolactone administration (87.5 ± 16 versus 62.2 ± 11 pg/ml, p = 0.01). After chronic treatment with spironolactone, there was no significant difference in the aldosterone level between the aortic root and the coronary sinus (151 ± 49 versus 148 ± 48 pg/ml), and the transcardiac gradient of aldosterone (aortic root to coronary sinus) was significantly decreased (25.3 ± 7.3 versus 3.1 ± 4.5 pg/ml, p = 0.046). These results indicate that plasma aldosterone is extracted through the heart in congestive heart failure patients with dilated cardiomyopathy, and that spironolactone inhibits the transcardiac extraction of aldosterone in congestive heart failure patients. This suggests that spironolactone blocks the effects of aldosterone on the failing heart in congestive heart failure patients with dilated cardiomyopathy.
Security of Tzeng's Time-Bound Key Assignment Scheme for Access Control in a Hierarchy

Tzeng (2002) proposed a time-bound cryptographic key assignment scheme for access control in a partial-order hierarchy. In this paper, we show that Tzeng's scheme is insecure against the collusion attack whereby three users conspire to access some secret class keys that they should not know according to Tzeng's scheme.
Comparison of pre- and post-reconstruction denoising approaches in positron emission tomography

In Positron Emission Tomography (PET), image quality is highly degraded by noise. Therefore, two main PETimage denoising approaches can be used: pre- and postreconstruction denoising. In the pre-reconstruction approach the PET sinogram is denoised before forwarding it to the image reconstruction algorithm. On the other hand, the reconstructed PET-image is denoised in the post-reconstruction approach. In this study, comparison of image quality of the resulting images of the pre- and post-reconstruction approaches is performed. In both types of approaches, the Gaussian filter, the Non-Local Means filter (NLM), the Block-Matching and 3D filter (BM3D), the K-Nearest Neighbors Filter (KNN) and the Patch Confidence K-Nearest Neighbors Filter (PCkNN) are utilized. These approaches are evaluated on a simulated PET-phantom dataset, a real-life physical thorax-phantom PET dataset as well as a reallife MicroPET-scan dataset of a mouse. The performance is measured using the Signal-to-Noise Ratio (SNR) in addition to the Contrast-to-Noise Ratio (CNR) in the resulting images.