Miracle-dz/UniFAR-FTUs huggingface dataset:
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients

INTRODUCTION Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity. AIM To evaluate the generality of cathepsin C mutations in PLS, we studied an ethnically diverse group of 20 unrelated families. METHODS Mutations were identified by direct automated sequencing of genomic DNA amplified for exonic regions and associated splice site junctions of the cathepsin C gene. Long range PCR was performed to determine the genomic structure of the cathepsin C gene. RESULTS The cathepsin C gene spans over 46 kb, with six introns ranging in size from 1.6 to 22.4 kb. Eleven novel mutations and four previously reported mutations were identified in affected subjects from 14 families. Missense mutations were most common (9/15), followed by nonsense mutations (3/15), insertions (2/15), and deletions (1/15). Among these 14 probands, two were compound heterozygotes. Affected subjects with transgressions of the dermal lesions onto the knees or elbows or both had mutations in both the pro- and mature regions of the enzyme, although most were in the mature region. CONCLUSION Mutations in the mature region of cathepsin C were more likely to be associated with the transgressions of the dermatological lesions, although the results were not statistically significant. A comprehensive list of all cathepsin C mutations described to date, representing 25 mutations from 32 families with PLS and related conditions, is also presented.
Metallo-β-lactamase-producing Pseudomonas aeruginosa in two hospitals from southern Brazil

This study determined the prevalence of metallo-beta-lactamase (MBL)-producing Pseudomonas aeruginosa in two hospitals located in the Southern part of Brazil and compare the performance of two different phenotypic tests. Thirty-one non-repetitive Pseudomonas aeruginosa isolates from various clinical samples from patients admitted to two hospitals located in Rio Grande do Sul, Brazil (twenty-three from a hospital in Porto Alegre City and eight isolates from a hospital in Vale dos Sinos Region). All strains suggestive of possessing MBLs by phenotypic methods were included in this study. Phenotypic detection of MBLs was carried out simultaneously by using both the MBL Etest and disk approximation test using 2-mercaptopropionic acid close to a ceftazidime disk. Strains positive were further confirmed using molecular techniques for bla(VIM), bla(IMP) and bla(SPM-1). The prevalence of MBLs from samples of inpatients from the hospital located in Porto Alegre was 30.4% and that of inpatients from Vale dos Sinos hospital was only 3.1%. Only MBL type SPM-1 was detected in these samples by molecular analysis and all were detected by the Etest MBL strips. The prevalence of P. aeruginosa that produce MBLs can be markedly different in distinct geographical areas, even among different hospitals in the same area. In our study, the EDTA-based method was the only method able to detect all strains harboring the SPM-1 enzyme.
Adhesion of glucosyltransferase phase variants to Streptococcus gordonii bacterium-glucan substrata may involve lipoteichoic acid

Growing Streptococcus gordonii Spp+ phase variants, which have normal levels of glucosyltransferase (GTF) activity, use sucrose to promote their accumulation on surfaces by forming a cohesive bacterium-insoluble glucan polymer mass (BPM). Spp- phase variants, which have lower levels of GTF activity, do not form BPMs and do not remain in BPMs formed by Spp+ cells when grown in mixed cultures. To test the hypothesis that segregation of attached Spp+ and unattached Spp- cells was due to differences in adhesiveness, adhesion between washed, [3H]thymidine-labeled cells and preformed BPM substrata was measured. Unexpectedly, the results showed that cells of both phenotypes, as well as GTF-negative cells, attached equally well to preformed BPMs, indicating that attachment to BPMs was independent of cell surface GTF activity. Initial characterization of this binding interaction suggested that a protease-sensitive component on the washed cells may be binding to lipoteichoic acids sequestered in the BPM, since exogenous lipoteichoic acid inhibited adhesion. Surprisingly, the adhesion of both Spp+ and Spp- cells was markedly inhibited in the presence of sucrose, which also released lipoteichoic acid from the BPM. These in vitro findings suggest that, in vivo, sucrose and lipoteichoic acid may modify dental plaque development by enhancing or inhibiting the attachment of additional bacteria.
Scotopic Visual Signaling in the Mouse Retina Is Modulated by High-Affinity Plasma Membrane Calcium Extrusion

Transmission of visual signals at the first retinal synapse is associated with changes in calcium concentration in photoreceptors and bipolar cells. We investigated how loss of plasma membrane Ca2+ ATPase isoform 2 (PMCA2), the calcium transporter isoform with the highest affinity for Ca2+/calmodulin, affects transmission of rod- and cone-mediated responses. PMCA2 expression in the neuroblast layer was observed soon after birth; in the adult, PMCA2 was expressed in inner segments and synaptic terminals of rod photoreceptors, in rod bipolar cells, and in most inner retinal neurons but was absent from cones. To determine the role of PMCA2 in retinal signaling, we compared morphology and light responses of retinas from control mice and deafwaddler dfw2J mice, which lack functional PMCA2 protein. The cytoarchitecture of retinas from control and dfw2J mice was indistinguishable at the light microscope level. Suction electrode recordings revealed no difference in the sensitivity or amplitude of outer segment light responses of control and dfw2J rods. However, rod-mediated ERG b-wave responses in dfw2J mice were ∼45% smaller and significantly slower than those of control mice. Furthermore, recordings from individual rod bipolar cells showed that the sensitivity of transmission at the rod output synapse was reduced by ∼50%. No changes in the amplitude or timing of cone-mediated ERG responses were observed. These results suggest that PMCA2-mediated Ca2+ extrusion modulates the amplitude and timing of the high-sensitivity rod pathway to a much greater extent than that of the cone pathway.
Nitrogenated tetrahedral amorphous carbon films prepared by ion-beam-assisted filtered cathodic vacuum arc technique for solar cells application

Fabrication and characterization of nitrogenated tetrahedral amorphous carbon (ta-C:N) semiconductor/crystalline p-type silicon (p-Si) heterojunction structures are reported. The electron-hole pairs generated from both ta-C:N and Si depletion regions were observed from photoresponse measurements. The peaks are centered at about 540 and 1020 nm, which correspond to the optical absorption edge of ta-C:N and p-Si, respectively. The reverse current increased by three orders of magnitude when the structures were exposed to AM1 light. A photovoltaic effect was observed from ta-C:N and the values of short circuit current, open circuit voltage, and field factor obtained are 5.05 mA cm−2, 270 mV, and 0.2631, respectively.
Experience with V-STORE: Considerations on Presence in Virtual Environments for Effective Neuropsychological Rehabilitation of Executive Functions

The paper discusses the use of immersive virtual reality systems for the cognitive rehabilitation of dysexecutive syndrome, usually caused by prefrontal brain injuries. With respect to classical P&P and flat-screen computer rehabilitative tools, IVR systems might prove capable of evoking a more intense and compelling sense of presence, thanks to the highly naturalistic subject-environment interaction allowed. Within a constructivist framework applied to holistic rehabilitation, we suggest that this difference might enhance the ecological validity of cognitive training, partly overcoming the implicit limits of a lab setting, which seem to affect non-immersive procedures especially when applied to dysexecutive symptoms. We tested presence in a pilot study applied to a new VR-based rehabilitation tool for executive functions, V-Store; it allows patients to explore a virtual environment where they solve six series of tasks, ordered for complexity and designed to stimulate executive functions, programming, categorical abstraction, short-term memory and attention. We compared sense of presence experienced by unskilled normal subjects, randomly assigned to immersive or non-immersive (flat screen) sessions of V-Store, through four different indexes: self-report questionnaire, psychophysiological (GSR, skin conductance), neuropsychological (incidental recall memory test related to auditory information coming from the "real" environment) and count of breaks in presence (BIPs). Preliminary results show in the immersive group a significantly higher GSR response during tasks; neuropsychological data (fewer recalled elements from "reality") and less BIPs only show a congruent but yet non-significant advantage for the immersive condition; no differences were evident from the self-report questionnaire. A larger experimental group is currently under examination to evaluate significance of these data, which also might prove interesting with respect to the question of objective-subjective measures of presence.
Optimal Linear Network Coding Design for Secure Unicast with Multiple Streams

Linear network coding is a promising technology that can maximize the throughput capacity of communication network. Despite this salient feature, there are still many challenges to be addressed, and security is clearly one of the most important challenges. In this paper, we will address the design of secure linear network coding. Specifically, we will investigate the network coding design that can both satisfy the weakly secure requirements and maximize the transmission data rate of multiple unicast streams between the same source and destination pair, which has not been addressed in the literature. In our study, we first prove that the secure unicast routing problem is equivalent to a constrained link-disjoint path problem. We then develop efficient algorithm that can find the optimal unicast topology in a polynomial amount of time. Based on the topology, we design deterministic linear network code that is weakly secure and can be constructed at the source node. And finally, we investigate the potential of random linear code for weakly secure unicast and prove the low bound of the probability that a random linear code is weakly secure.
Energy loss and coronary flow simulation following hybrid stage I palliation: a hypoplastic left heart computational fluid dynamic model.

OBJECTIVES The theoretical differences in energy losses as well as coronary flow with different band sizes for branch pulmonary arteries (PA) in hypoplastic left heart syndrome (HLHS) remain unknown. Our objective was to develop a computational fluid dynamic model (CFD) to determine the energy losses and pulmonary-to-systemic flow rates. This study was done for three different PA band sizes. METHODS Three-dimensional computer models of the hybrid procedure were constructed using the standard commercial CFD softwares Fluent and Gambit. The computer models were controlled for bilateral PA reduction to 25% (restrictive), 50% (intermediate) and 75% (loose) of the native branch pulmonary artery diameter. Velocity and pressure data were calculated throughout the heart geometry using the finite volume numerical method. Coronary flow was measured simultaneously with each model. Wall shear stress and the ratio of pulmonary-to-systemic volume flow rates were calculated. Computer simulations were compared at fixed points utilizing echocardiographic and catheter-based metric dimensions. RESULTS Restricting the PA band to a 25% diameter demonstrated the greatest energy loss. The 25% banding model produced an energy loss of 16.76% systolic and 24.91% diastolic vs loose banding at 7.36% systolic and 17.90% diastolic. Also, restrictive PA bands had greater coronary flow compared with loose PA bands (50.2 vs 41.9 ml/min). Shear stress ranged from 3.75 Pascals with restrictive PA banding to 2.84 Pascals with loose banding. Intermediate PA banding at 50% diameter achieved a Qp/Qs (closest to 1) at 1.46 systolic and 0.66 diastolic compared with loose or restrictive banding without excess energy loss. CONCLUSIONS CFD provides a unique platform to simulate pressure, shear stress as well as energy losses of the hybrid procedure. PA banding at 50% provided a balanced pulmonary and systemic circulation with adequate coronary flow but without extra energy losses incurred.
Dry Eye After Clear Cornea Phacoemulsification

Objective: To determine the incidence of dry eye in patients undergoing clear cornea phacoemulsification and to investigate its effects on dry eye symptoms and tear function. Methods: This was a single-center, prospective, non-randomized study involving forty-nine (49) eyes from fortyfour (44) patients without preoperative dry eye, who underwent clear cornea phacoemulsification for age-related cataract. Main outcome measures were subjective grading of ocular discomfort, ocular surface disease index (OSDI), fluorescein tear break-up time (FTBUT), and Schirmer tests without anesthesia and with anesthesia. They were measured before surgery and 1 week, 1 month, and 3 months after surgery. Results: None of the patients qualified for the definition of dry eye disease before and after clear cornea phacoemulsification. Preoperative FTBUT (14.01 ± 0.56 seconds) decreased at 1 week (3.97 ± 0.21 seconds; p<0.001) and at 1 month (5.82 ± 0.32 seconds; p<0.001) after the surgery and gradually improved by 3 months (8.26 ± 0.54 seconds; p<0.001) after surgery. Preoperative Schirmer test without anesthesia (18.78 ± 1.17 mm) decreased at 1 week (14.02 ± 1.52 mm; p<0.001) and subsequently recovered by 3 months (16.31 ± 1.34 mm; p>0.05). Preoperative Schirmer test with anesthesia (14.24 ± 0.94 mm) decreased at 1 week (11.98 ± 1.00 mm; p=0.046) after surgery and went back to baseline levels by 3 months (13.80 ± 1.12 mm; p>0.05). Conclusion: Patients without dry eye disease, who underwent clear cornea phacoemulsification, did not develop dry eye disease after the surgery. Temporary reduction in physiologic tear levels seen one week postsurgery gradually returned to near-normal baseline levels by the third postoperative month.
Different Pathways Leading to Integrase Inhibitors Resistance

Integrase strand-transfer inhibitors (INSTIs), such as raltegravir (RAL), elvitegravir, or dolutegravir (DTG), are efficient antiretroviral agents used in HIV treatment in order to inhibit retroviral integration. By contrast to RAL treatments leading to well-identified mutation resistance pathways at the integrase level, recent clinical studies report several cases of patients failing DTG treatment without clearly identified resistance mutation in the integrase gene raising questions for the mechanism behind the resistance. These compounds, by impairing the integration of HIV-1 viral DNA into the host DNA, lead to an accumulation of unintegrated circular viral DNA forms. This viral DNA could be at the origin of the INSTI resistance by two different ways. The first one, sustained by a recent report, involves 2-long terminal repeat circles integration and the second one involves expression of accumulated unintegrated viral DNA leading to a basal production of viral particles maintaining the viral information.
The relativity of HR systems: conceptualising the impact of desired employee contributions and HR philosophy

In this paper, we offer a framework for conceptualising and investigating the relativity of human resource (HR) systems across organisations and some of the reasons behind this relativity. We do so by extending the behavioural perspective in strategic HR management research and argue that two variables, HR philosophy and desired employee contributions, play an instrumental role in organisational choices regarding the types of HR policies used to manage employees within and across organisations. We propose that the dimensions of desired employee contributions determine which sets of HR policies are feasible while HR philosophy governs the specific choices of HR policies within firms. Future directions and implications are also discussed.
of Nebraska - Lincoln of Nebraska - Lincoln Direct Observation of the Strange Direct Observation of the Strange bb Baryon Ξ Baryon bb- -V.M.

We report the ﬁrst direct observation of the strange b baryon (cid:1) (cid:1) b (cid:2) (cid:1) (cid:3) b (cid:4) . We reconstruct the decay (cid:1) (cid:1) b ! J= (cid:1) (cid:1) , with J= ! (cid:1) (cid:3) (cid:1) (cid:1) and (cid:1) (cid:1) ! (cid:2) (cid:2) (cid:1) ! p(cid:2) (cid:1) (cid:2) (cid:1) in p (cid:3) p collisions at (cid:1)(cid:1)(cid:1) s p (cid:5) 1 : 96 TeV . Using : 3 fb 1 of data collected by the D0 detector, we observe 15 : 2 (cid:6) : 4 stat 1 9 (cid:1) : 4 (cid:2) syst (cid:4) (cid:1) (cid:1) b candidates at a mass of 5 : 774 (cid:6) 0 : 011 (cid:2) stat (cid:4) (cid:6) 0 : 015 (cid:2) syst (cid:4) GeV . The signiﬁcance of the observed signal is 5 : 5 (cid:3) , equivalent to a probability of 3 : 3 (cid:7) 10 (cid:1) 8 of it arising from a background ﬂuctuation. Normalizing to the decay (cid:2) b ! J= (cid:2) , we measure the relative
Influence of acute sleep loss on the neural correlates of alerting, orientating and executive attention components

The Attention Network Test (ANT) is deemed to assess the alerting, orientating and executive components of human attention. Capitalizing on the opportunity to investigate three facets of attention in a single task, we used functional magnetic resonance imaging (fMRI) to assess the effect of sleep deprivation (SD) on brain responses associated with the three attentional components elicited by the ANT. Twelve healthy volunteers were scanned in two conditions 1 week apart, after a normal night of sleep (rested wakefulness, RW) or after one night of total sleep deprivation. Sleep deprivation was associated with a global increase in reaction times, which did not affect specifically any of the three attention effects. Brain responses associated with the alerting effect did not differ between RW and SD. Higher‐order attention components (orientating and conflict effects) were associated with significantly larger thalamic responses during SD than during RW. These results suggest that SD influences different components of human attention non‐selectively, through mechanisms that might either affect centrencephalic structures maintaining vigilance or ubiquitously perturb neuronal function. Compensatory responses can counter these effects transiently by recruiting thalamic responses, thereby supporting thalamocortical function.
Comparison of cerebrospinal fluid levels of tau and Aβ 1-42 in Alzheimer disease and frontotemporal degeneration using 2 analytical platforms.

OBJECTIVE To use values of cerebrospinal fluid tau and β-amyloid obtained from 2 different analytical immunoassays to differentiate Alzheimer disease (AD) from frontotemporal lobar degeneration (FTLD). DESIGN Cerebrospinal fluid values of total tau (T-tau) and β-amyloid 1-42 (Aβ 1-42) obtained using the Innotest enzyme-linked immunosorbent assay were transformed using a linear regression model to equivalent values obtained using the INNO-BIA AlzBio3 (xMAP; Luminex) assay. Cutoff values obtained from the xMAP assay were developed in a series of autopsy-confirmed cases and cross validated in another series of autopsy-confirmed samples using transformed enzyme-linked immunosorbent assay values to assess sensitivity and specificity for differentiating AD from FTLD. SETTING Tertiary memory disorder clinics and neuropathologic and biomarker core centers. PARTICIPANTS Seventy-five samples from patients with cerebrospinal fluid data obtained from both assays were used for transformation of enzyme-linked immunosorbent assay values. Forty autopsy-confirmed cases (30 with AD and 10 with FTLD) were used to establish diagnostic cutoff values and then cross validated in a second sample set of 21 autopsy-confirmed cases (11 with AD and 10 with FTLD) with transformed enzyme-linked immunosorbent assay values. MAIN OUTCOME MEASURE Diagnostic accuracy using transformed biomarker values. RESULTS Data obtained from both assays were highly correlated. The T-tau to Aβ 1-42 ratio had the highest correlation between measures (r = 0.928, P < .001) and high reliability of transformation (intraclass correlation coefficient= 0.89). A cutoff of 0.34 for the T-tau to Aβ 1-42 ratio had 90% and 100% sensitivity and 96.7% and 91% specificity to differentiate FTLD cases in the validation and cross-validation samples, respectively. CONCLUSIONS Values from 2 analytical platforms can be transformed into equivalent units, which can distinguish AD from FTLD more accurately than the clinical diagnosis.
Comparison of Proctor and Uniaxial Compression Tests for Selected Soils

Abstract The objective of this paper was to compare the results of soil material compaction carried out with the use of the Proctor and uniaxial compression tests in order to find relations between these methods. Soil material in the form of loose mass was collected from the layer deposited at the depth from 35 to 60 cm in order to determine its typical properties (textural group, density of solid particles, humus content, reaction, plastic and liquid limits) and in order to compact it in the Proctor apparatus and in the uniaxial compression test. Results of both tests were used for construction of regression models reflecting the course of the unit stress (Pρdp), necessary to generate compaction equal to the dry density of solid particles obtained in the Proctor apparatus (ρdp) in relation to the sample moisture (ws). It was stated that the stress value Pρdp on the soil sample in the uniaxial compression test depends significantly on ws. It was proved that for the purpose of comparing the results of both tests, the uniaxial stress of samples must be performed in conditions of their lateral expansion. It was also proved that the use of the uniaxial test with possible lateral expansion of soil with a model sample, a diameter of which is 100 and the height is 30 mm, one may determine the obtained compaction with the use of the plate movement value.
Wave energy devices with compressible volumes

We present an analysis of wave energy devices with air-filled compressible submerged volumes, where variability of volume is achieved by means of a horizontal surface free to move up and down relative to the body. An analysis of bodies without power take-off (PTO) systems is first presented to demonstrate the positive effects a compressible volume could have on the body response. Subsequently, two compressible device variations are analysed. In the first variation, the compressible volume is connected to a fixed volume via an air turbine for PTO. In the second variation, a water column separates the compressible volume from another volume, which is fitted with an air turbine open to the atmosphere. Both floating and bottom-fixed, axisymmetric, configurations are considered, and linear analysis is employed throughout. Advantages and disadvantages of each device are examined in detail. Some configurations with displaced volumes less than 2000 m3 and with constant turbine coefficients are shown to be capable of achieving 80% of the theoretical maximum absorbed power over a wave period range of about 4 s.