Miracle-dz/UniFAR-FTUs huggingface dataset:
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.

Patients with multiple schwannomas without vestibular schwannomas have been postulated to compose a distinct subclass of neurofibromatosis (NF), termed "schwannomatosis. " To compare the molecular-genetic basis of schwannomatosis with NF2, we examined the NF2 locus in 20 unrelated schwannomatosis patients and their affected relatives. Tumors from these patients frequently harbored typical truncating mutations of the NF2 gene and loss of heterozygosity of the surrounding region of chromosome 22. Surprisingly, unlike patients with NF2, no heterozygous NF2-gene changes were seen in normal tissues. Examination of multiple tumors from the same patient revealed that some schwannomatosis patients are somatic mosaics for NF2-gene changes. By contrast, other individuals, particularly those with a positive family history, appear to have an inherited predisposition to formation of tumors that carry somatic alterations of the NF2 gene. Further work is needed to define the pathogenetics of this unusual disease mechanism.
Pulmonary Hypertension in Poems Syndrome: Resolution following Radiotherapy

Pulmonary hypertension (PH) is defined by the presence of a mean pulmonary artery pressure (mPAP) ≥25 mmHg. It may be idiopathic or arise as a consequence of a number of diverse conditions. PH has been reported in association with POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes), with reversal following systemic treatment with corticosteroids. We report a case of pulmonary hypertension associated with POEMS syndrome treated with radical radiotherapy locally to bone lesions with resolution of systemic disease.
Relationship between metacognitive beliefs and psychosocial performance in at‐risk states of psychosis and patients with first psychotic episodes

Improving diagnostic batteries to identify individuals at‐risk for developing psychotic disorders as early as possible is an ongoing challenge in schizophrenia research. Here, we sought to explore whether metacognition in at‐risk of developing psychosis would differ from that of first episode psychosis and unaffected controls and whether dysfunctional metacognitive beliefs would be associated with psychosocial functioning in the clinical groups.
The conductance of sodium channels under conditions of reduced current at the node of Ranvier.

1. The single sodium channel conductance gamma and the number of channels N were estimated from fluctuation analysis in voltage‐clamped nodes of Ranvier under conditions that decreased the size of the sodium current. 2. Reduction of the sodium current by depolarizing prepulses had no effect on gamma, and, in cases where it could be determined, had no significant effect on N. Partial block of the sodium conductance with tetrodotoxin and saxitoxin also did not affect gamma significantly, but reduced N. 3. gamma was reduced to about 40% of the control value at ‐5 mV when the pH of the external solution was reduced to 5.0. The pH dependence of gamma is consistent with the theories of Woodhull and of Drouin & Neumcke. 4. The differing effects of prepulses, toxins and pH are interpreted in view of the different time scales of channel inactivation or block under these conditions. 5. The nearly unchanged gamma with prepulses and partial toxin block provides further evidence for the absence of interactions among sodium channels.
Drought, change and resilience in South Africa's arid and semi-arid rangelands

Droughts can have serious ecological and economic consequences and will pose an increasing challenge to rangeland users as the global climate is changing. Finding ways to reduce ecological and economic impacts of drought should thus be a major research thrust. Resilience, defined as the amount of perturbation a social or ecological system can absorb without shifting to a qualitatively different state, has emerged as a prominent concept in ecosystem ecology and more recently as a conceptual framework for understanding and managing complex social-ecological systems. This paper discusses the application and relevance of resilience to understanding and managing ecosystem change, and enhancing the capacity of land users to adapt to droughts. Drought can trigger vegetation change and factors such as grazing management can influence the likelihood of such transitions. Drought can cause differential mortality of perennial plants and this could provide an opportunity for rangeland restoration by opening up establishment sites for desirable species. The capacity of land users to cope with drought is influenced by the resilience of their agro-ecosystems, the diversity of livelihood options, access to resources and institutional support. By these criteria, current agricultural development approaches in South Africa, particularly in communal rangelands and areas of land reform, are unlikely to enhance land users’ resilience to drought and other perturbations.
Dermal mast cells in scleroderma: their skin density, tryptase/chymase phenotypes and degranulation

To determine the distribution, tryptase/chymase phenotypes and degranulation of mast cells (MCs) in the dermis of patients with scleroderma, we examined MC density in the skin of 22 patients with systemic sclerosis (SSc) and 11 with localized scleroderma (LSc). We used antitryptase and antichymase antibodies after Carnoy's fixation. Detailed reports of two representative patients with SSc and LSc are included. In the scleroedematous stage (grade 1) showing oedema in both papillary and reticular dermis with variable homogenization of collagen bundles in the reticular dermis, MC skin density was variable in each specimen although MC skin density, as a whole, was significantly increased as compared with normal skin (P < 0.05). In the sclerotic stage (grade 2) characterized by homogenization of collagen bundles in the entire dermis, MC skin density was significantly decreased as compared with normal skin (P < 0.005). LSc showed changes similar to those in SSc. The ratio of MCTC cells (both tryptase‐ and chymase‐positive MC) to MCT cells (tryptase‐positive but chymase‐negative MC) was variable in SSc and LSc. MCT cells were exclusively dominant in three patients with SSc and two with LSc. In a patient with SSc (patient 1) showing remarkable perivascular and interstitial oedema in the upper dermis, MC skin density was increased in the oedematous portion and tryptase‐positive granules were distributed in extracellular locations. In another patient with LSc (patient 2), tryptase positivity increased and chymase positivity decreased in both number and intensity as the skin sclerosis progressed. MCs must have variable interactions with the lesional skin in SSc and LSc. The present study suggests that MCs are involved in the development of interstitial oedema.
Oviposition of Aquatic Insects in a Tropical High Altitude Stream

ABSTRACT The persistence of aquatic insect populations in streams depends on the recruitment of larval populations from egg masses deposited by adults, especially after disturbance. However, recruitment of aquatic populations by oviposition is a process that remains unstudied in streams and rivers. The objectives of our study were to document flying and oviposition patterns of aquatic insects in a high altitude tropical stream during both dry and wet seasons. In particular we studied 1) richness and abundance of adult forms of aquatic insects flying and ovipositing; 2) number of eggs (oviposition pattern), egg mass identity, and morphology; and 3) substrate preferences by ovipositing females. We found 2,383 aquatic insects corresponding to 28 families, with dipterans representing 89% of total individuals collected. Adult insects had lower richness (28 taxa) than larval diversity (up to 52 taxa) and distinct community composition. Richness and relative abundance of most taxa (adults) were not significantly different between seasons, behaviors, diel period, or all three. During both sampling periods we found females with eggs in a total of 15 different families (13 in the dry season and 14 in the wet season). There were no significant differences in the proportion of females with eggs between seasons, diel periods, or different behaviors (flying versus ovipositing traps) of the different female taxa. Few types of egg masses were found in rocks at the stream during both seasons, and most egg masses found corresponded to families Baetidae and Chironomidae. Finally, we provide the first description of eggs masses (size, shape, color, and number of eggs per female) of gravid females (10 taxa) and those found in the stream substrate (six taxa) of Andean macroinvertebrates. This is the first study reporting oviposition, adult diversity, and oviposition patterns of aquatic insects in the Andean region.
Regression splines in the time‐dependent coefficient rates model for recurrent event data

Many epidemiologic studies involve the occurrence of recurrent events and much attention has been given for the development of modeling techniques that take into account the dependence structure of multiple event data. This paper presents a time‐dependent coefficient rates model that incorporates regression splines in its estimation procedure. Such methods would be appropriate in situations where the effect of an exposure or covariates changes over time in recurrent event data settings. The finite sample properties of the estimators are studied via simulation. Using data from a randomized community trial that was designed to evaluate the effect of vitamin A supplementation on recurrent diarrheal episodes in small children, we model the functional form of the treatment effect on the time to the occurrence of diarrhea. The results describe how this effect varies over time. In summary, we observed a major impact of the vitamin A supplementation on diarrhea after 2 months of the dosage, with the effect diminishing after the third dosage. The proposed method can be viewed as a flexible alternative to the marginal rates model with constant effect in situations where the effect of interest may vary over time. Copyright © 2008 John Wiley & Sons, Ltd.
Differential Effects of Phosphatidylinositol 4-Kinase (PI4K) and 3-Kinase (PI3K) Inhibitors on Stomatal Responses to Environmental Signals

Specific cellular components including products of phosphatidylinositol (PI) metabolism play an important role as signaling molecules in stomatal responses to environmental signals. In this study, pharmacological inhibitors of a set of cellular components, including PI4-kinase (PI4K) and PI3K, were used to investigate stomatal closure in response to CO2, darkness, and abscisic acid (ABA). Treatment with PAO, a specific inhibitor of PI4K, specifically inhibited the stomatal response to CO2 compared with that to darkness and ABA. In contrast, treatment with LY294002, a PI3K-specific inhibitor, specifically inhibited the stomatal response to darkness compared with that to CO2 and ABA. The specific inhibitory effects of PAO and LY294002 were also observed as changes in the spatial density of dot-like structures labeled by green fluorescent protein-tagged PATROL1, a protein that controls stomatal aperture possibly via regulation of H+-ATPase amount in guard cell plasma membranes. Our results suggest an important role for PI4K and PI3K in the CO2 and darkness signal transduction pathways, respectively, that mediate PATROL1 dynamics.
Inclusion of trans women in pre-exposure prophylaxis trials: a review

Trans women are at high risk of HIV infection. We conducted a review to determine the extent to which trans women were eligible for inclusion in and enrolled into pre-exposure prophylaxis (PrEP) efficacy trials. Out of seven trials analyzing PrEP efficacy, we found that trans women comprised only 1.2% of one trial and 0.2% of total trial enrollments. Although an additional PrEP trial to determine efficacy among trans women may not be warranted, further research is needed to determine the effectiveness of PrEP in this marginalized population, through observational and feasibility studies. These studies should focus on unique barriers that trans women may experience while obtaining access to PrEP, such as gender discrimination, transphobia, and violence.
Relationships between Plant and Animal Species Richness at a Regional Scale in China

Abstract: Important questions in conservation biology and ecology include whether species diversities of different groups of organisms are correlated and, in particular, whether plant diversity influences animal diversity. I used correlation and partial regression analyses to examine the relationships between species richness of vascular plants and four major groups of terrestrial vertebrates (mammals, amphibians, reptiles, and birds) in 28 provinces in China. Species richness data were obtained from the literature. Environmental variables included normalized difference vegetation index, mean January temperature, mean annual temperature, annual precipitation, May through August precipitation, actual evapotranspiration, potential evapotranspiration, and elevation range. Species richness was strongly and positively correlated among the five groups of organisms. Plant richness was correlated with animal richness more strongly than the richness of different animal groups correlated with each other except for reptile richness, which had a slightly higher correlation with amphibian richness than with plant richness. Plant richness uniquely explained 41 times more variance in the species richness of the four vertebrate groups combined than environmental variables uniquely did, suggesting that plant richness influences terrestrial vertebrate richness at the regional scale examined. Because of strong correlations between the diversity of vascular plants and vertebrates, the diversity of vascular plants may be used as a surrogate for the diversity of terrestrial animals in China. My results have implications for selection of areas to be protected at both regional and local scales.
Incident Reporting at a Tertiary Care Hospital in Saudi Arabia

Objective This study aimed to examine the rates and categories of incident reports in an academic tertiary care center in Saudi Arabia both hospital-wide and in the intensive care unit (ICU). Such information would help in redesigning systems and in planning and developing strategies with the goal of improving patient safety and quality of care. Methods In this descriptive study, we evaluated all incident reports submitted through the paper-based reporting system in the hospital and the ICU for the year 2008. Incident report rates were calculated as the number of incident reports per 1000 patient days. We also reviewed the major and minor categories of the generated reports. Results A total of 3041 incident reports were submitted from all hospital areas; yielding a rate of 5.8 per 1000 patient days. Sixty-two incident reports were reported from the ICU, yielding a rate of 5.8 per 1000 patient days. The most frequent type of incident reports was procedural variances (37%), followed by behavior and communication incidents (34%), hazardous and safety incidents (9.5%), and medication errors (7.4%). In the ICU, the most frequently reported type of incidents was behavior and communication incidents (30.6%), followed by procedural variances (21%) and medication errors (13%). Conclusions Rates of incident reports at a tertiary care center in Saudi Arabia were low compared with reported international rates. The main categories of incident reports were related to procedural variances and behavior and communication incidents. These findings suggest that patient safety initiatives should focus primarily on these 2 domains. Additional prospective research is needed in this important area to further understand patient safety challenges and reporting practice and culture in the country.
A Novel Serpin Regulatory Mechanism

The intracellular protease inhibitor Sb9 (SerpinB9) is a regulator of the cytotoxic lymphocyte protease GzmB (granzyme B). Although GzmB is primarily involved in the destruction of compromised cells, recent evidence suggests that it is also involved in lysosome-mediated death of the cytotoxic lymphocyte itself. Sb9 protects the cell from GzmB released from lysosomes into the cytosol. Here we show that reactive oxygen species (ROS) generated within cytotoxic lymphocytes by receptor stimulation are required for lyososomal permeabilization and release of GzmB into the cytosol. Importantly, ROS also inactivate Sb9 by oxidizing a highly conserved cysteine pair (P1-P1′ in rodents and P1′-P2′ in other mammals) in the reactive center loop to form a vicinal disulfide bond. Replacement of the P4-P3′ reactive center loop residues of the prototype serpin, SERPINA1, with the P4-P5′ residues of Sb9 containing the cysteine pair is sufficient to convert SERPINA1 into a ROS-sensitive GzmB inhibitor. Conversion of the cysteine pair to serines in either human or mouse Sb9 results in a functional serpin that inhibits GzmB and resists ROS inactivation. We conclude that ROS sensitivity of Sb9 allows the threshold for GzmB-mediated suicide to be lowered, as part of a conserved post-translational homeostatic mechanism regulating lymphocyte numbers or activity. It follows, for example, that antioxidants may improve NK cell viability in adoptive immunotherapy applications by stabilizing Sb9.
An Examination of EPPM Predictions When Threat Is Perceived Externally: An Asthma Intervention With School Workers

Little research informs the use of the Extended Parallel Process Model (EPPM) of persuasion when threat and efficacy judgments are rendered for someone other than the message recipient. Nevertheless, a wide range of health promotion consists of influencing such judgments. Two studies examine the utility of using the EPPM in a context involving threats to others. Results show that the expected measurement models hold in this new context, and that an additive model is a stronger fit than a multiplicative one when considering how threat and efficacy combine to affect behavioral intentions but not when considering behavior. The study also examines the effects of a print intervention implemented with school employees in Michigan derived from the EPPM. The results are discussed in terms of their theoretical import and their application in this new context.
Fracture healing following high energy tibial trauma: Ilizarov versus Taylor Spatial Frame.

INTRODUCTION The optimal treatment of high energy tibial fractures remains controversial and a challenging orthopaedic problem. The role of external fixators for all these tibial fractures has been shown to be crucial. METHODS A five-year consecutive series was reviewed retrospectively, identifying two treatment groups: Ilizarov and Taylor Spatial Frame (TSF; Smith & Nephew, Memphis, TN, US). Fracture healing time was the primary outcome measure. RESULTS A total of 112 patients (85 Ilizarov, 37 TSF) were identified for the review with a mean age of 45 years. This was higher in women (57 years) than in men (41 years). There was no significant difference between frame types (p=0.83). The median healing time was 163 days in both groups. There was no significant difference in healing time between smokers and non-smokers (180 vs 165 days respectively, p=0.07), open or closed fractures (p=0.13) or age and healing time (Spearman's r=0.12, p=0.18). There was no incidence of non-union or re-fracture following frame removal in either group. CONCLUSIONS Despite the assumption of the rigid construct of the TSF, the median time to union was similar to that of the Ilizarov frame and the TSF therefore can play a significant role in complex tibial fractures.
Game-based learning engagement: A theory- and data-driven exploration

The promise of using games for learning is that play- and learning-engagement would occur cohesively as a whole to compose a highly motivated learning experience. Yet the conceptualization of such an integrative process in the development of play-based learning engagement is lacking. In this analytical paper, we explored and conceptualized the nature and development of game-based learning engagement via an iterative, two-stage analytical process. The first stage was theory driven. The literatures on motives of play, game and cognitive engagement, and game-based learning were reviewed and analyzed. Theoretical discussions on how learning engagement is activated and sustained during gameplay were distilled. The second stage was data driven. An in situ, multiple-case study was conducted to further examine affective and cognitive facets of learning engagement in gaming. The finding suggested that game-based learning engagement is an integrated and continuing process that advances from affective engagement driven by optimal challenge, cognitive engagement situated in playfulness, to potentially game-action-based content engagement. [ABSTRACT FROM AUTHOR]
Adaptive Regeneration of Ophiocoma Scolopendrina (Echinodermata: Ophiuroidea) Under Two Feeding Treatments in Moorea, French Polynesia

Regeneration is common amongst all classes of echinoderms and is easily studied in the laboratory with abundant and tractable ophiuroid specimens. However, ophiuroid regeneration rates, both between species and within the same species, can exhibit uncommonly high variation even under identical laboratory conditions. Eighty-four Ophiocoma scolopendrina (Lamarck 1816), a brittle star which extends its arms out into the water column to suspension feed, were collected from the upper-intertidal zone of rocky beaches on the island of Moorea, French Polynesia for laboratory regeneration experiments. To determine the effects of position of autotomy and feeding level on regenerated length and differentiation of new biomass, two treatments were performed: an amputation treatment either 5 mm from the central disk or 30 mm from the distal tip; and a feeding treatment of high-food or low-food. Additionally, a field survey was conducted to assess predation pressure and autotomy of O. scolopendrina in upper-intertidal zones. This study demonstrated that O. scolopendrina are well adapted to the high levels of sub-lethal predation at the arm tips by quickly resuming the ability to detect predators via photo and chemoreception. The results of this investigation can help to better inform calculations of energy cycling in ecosystems and has potential applications for further research on the connections between ophiuroid life-history and predation pressure on variable regeneration rates.
Na-Montmorillonite Edge Structure and Surface Complexes: An Atomistic Perspective

The edges of montmorillonite (MMT) react strongly with metals and organic matter, but the atomic structure of the edge and its surface complexes are not unambiguous since the experimental isolation of the edge is challenging. In this study, we introduce an atomistic model of a Na MMT edge that is suitable for classical molecular dynamics (MD) simulations, in particular for the B edge, a representative edge surface of 2:1 phyllosilicates. Our model possesses the surface groups identified through density functional theory (DFT) geometry optimizations performed with variation in the structural charge deficit and Mg substitution sites. The edge structure of the classical MD simulations agreed well with previous DFT-based MD simulation results. Our MD simulations revealed an extensive H-bond network stabilizing the Na-MMT edge surface, which required an extensive simulation trajectory. Some Na counter ions formed inner-sphere complexes at two edge sites. The stronger edge site coincided with the exposed vacancy in the dioctahedral sheet; a weaker site was associated with the cleaved hexagonal cavity of the tetrahedral sheet. The six-coordinate Na complexes were not directly associated with the Mg edge site. Our simulations have demonstrated the heterogeneous surface structures, the distribution of edge surface groups, and the reactivity of the MMT edge.