Miracle-dz/UniFAR-FTUs huggingface dataset:
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

Significance Bone marrow failure (BMF) syndromes are inherited life-threatening conditions characterized by low blood cell production and predisposition to cancer. In this study we report a germ line frameshift variant in the Sp1 transcription factor in a family of patients with BMF and acute leukemia. Sp1 is ubiquitously expressed in human tissues and regulates transcription for blood cell lineage specification. Dissecting the molecular function of this SP1 variant revealed a hypermorphic effect, triggering superactivation of Sp1-mediated transcription in the patients’ blood. To our knowledge, this is the first report of a naturally occurring germ line variant in SP1 that alters transcriptional networks and disrupts hematopoiesis in humans. Inherited bone marrow failure (BMF) syndromes are a heterogeneous group of diseases characterized by defective hematopoiesis and often predisposing to myelodysplastic syndrome (MDS) and acute myelogenous leukemia. We have studied a large family consisting of several affected individuals with hematologic abnormalities, including one family member who died of acute leukemia. By whole-exome sequencing, we identified a novel frameshift variant in the ubiquitously expressed transcription factor specificity protein 1 (SP1). This heterozygous variant (c.1995delA) truncates the canonical Sp1 molecule in the highly conserved C-terminal DNA-binding zinc finger domains. Transcriptomic analysis and gene promoter characterization in patients’ blood revealed a hypermorphic effect of this Sp1 variant, triggering superactivation of Sp1-mediated transcription and driving significant up-regulation of Sp1 target genes. This familial genetic study indicates a central role for Sp1 in causing autosomal dominant transmission of BMF, thereby confirming its critical role in hematopoiesis in humans.
Comparison of Psychological and Cognitive Characteristics between Professional Internet Game Players and Professional Baseball Players

The esports industry is increasing in popularity and is now played at the professional level. We hypothesized that esports players may have a significant advantage over the general population in terms of psychological and cognitive characteristics, which may be similar to that of professional baseball players. We recruited three participant groups: esports players (n = 55), pro-baseball players (n = 57), and age- and sex-matched healthy comparison subjects (n = 60). We assessed psychological status using the Korean versions of Temperament and Character Inventory and State and Trait Anxiety Inventory and cognitive functions using the modified Tower of London, Emotional Perception, and Mental Rotation tests. Esports players had similar psychological characteristics to pro-baseball players (higher novelty seeking [p < 0.01 *, ŋ = 0.818], self-directedness [p < 0.01 *, ŋ = 0.757], and self-transcendence scores [p < 0.01 *, ŋ = 0.853], and decreased state anxiety scores [p < 0.01 *, ŋ = 0.808]), which differed from those of the general population. However, esports players showed higher working memory [p < 0.01 *, ŋ = 0.823] and slower emotional perception than pro-baseball players [p < 0.01 *, ŋ = 0.812]. In conclusion, esports and pro-baseball players had similar psychological but different cognitive characteristics.
Mesenchymal stem cells derived‐exosomes as a new therapeutic strategy for acute soft tissue injury

The study aimed to investigate the role of exosomes derived from rat bone marrow mesenchymal stem cells (rBMSCs) in acute soft tissue injury and its related mechanisms. Exosomes were isolated from rBMSCs and characterized by Nanosight NS300 particle size analyser (NTA), transmission electron microscopy (TEM), and western blot. Twenty four rats were randomly divided into four groups (n = 6): control group, strike group, rBMSCs group, and rBMSCs‐exo group. Haematoxylin‐eosin (HE) staining was used to observe the morphology. Real‐time quantification PCR (RT‐qPCR) and western blot were used to analyse the expression of IL‐1A, IL‐12A, COL11A1, COL4A4, and Wnt4. NTA, TEM and western blot results showed that exosomes isolated from rBMSCs were cup‐shaped morphology with a size of about 100 nm. HE staining showed that there was severe soft tissue inflammation in strike group, and the symptoms were alleviated after rBMSCs and rBMSCs‐exo treatment. RT‐qPCR and western blot indicated that in the strike group, the expression levels of IL‐1A and IL‐12A were significantly increased, and their expressions were decreased markedly by exosomes treatment. In addition, after treatment, the expression levels of COL11A1 and Wnt4 were up‐regulated, while the expression of COL4A4 was down‐regulated. Exosomes isolated from rBMSCs could improve acute soft tissue injury, and may be used as a new therapeutic strategy acute soft tissue injury.
An Isotopic Approach to Measuring Nitrogen Balance in Caribou

ABSTRACT Nutritional restrictions in winter may reduce the availability of protein for reproduction and survival in northern ungulates. We refined a technique that uses recently voided excreta on snow to assess protein status in wild caribou (Rangifer tarandus) in late winter. Our study was the first application of this non-invasive, isotopic approach to assess protein status of wild caribou by determining dietary and endogenous contributions of nitrogen (N) to urinary urea. We used isotopic ratios of N (&dgr;15N) in urine and fecal samples to estimate the proportion of urea N derived from body N (p-UN) in pregnant, adult females of the Chisana Herd, a small population that ranged across the Alaska-Yukon border. We took advantage of a predator-exclosure project to examine N status of penned caribou in April 2006. Lichens were the primary forage (>40%) consumed by caribou in the pen and &dgr;15N of fiber tracked the major forages in their diets. The &dgr;15N of urinary urea for females in the pen was depleted relative (-1.3 ± 1.0 parts per thousand [‰], ±SD) to the &dgr;15N of body N (2.7 ±0.7‰). A similar proportion of animals in the exclosure lost core body mass (excluding estimates of fetal and uterine tissues; 55%) and body protein (estimated by isotope ratios; 54%). This noninvasive technique could be applied at various spatial and temporal scales to assess trends in protein status of free-ranging populations of northern ungulates. Intra- and inter-annual estimates of protein status could help managers monitor effects of foraging conditions on nutritional constraints in ungulates, increase the efficiency and efficacy of management actions, and help prepare stakeholders for potential changes in population trends.
Towards an understanding of the pattern of biodiversity in the oceans

Aim Latitudinal gradients in diversity intrigue scientists, and various hypotheses have been proposed to explain why the diversity of so many taxonomic groups increases from the poles to the equator. These hypotheses range from null models to environmental factors, and biotic interactions to those that include patterns of dispersal and speciation. Here, we formulate a new theory based upon the concept of the niche sensu Hutchinson and the principle of competitive exclusion, which shows that the latitudinal diversity gradient in the marine environment may result from an interaction between the thermal tolerances of species and climatic variability. Location The global ocean. Methods We design a bioclimatic model that creates pseudospecies from strict stenotherms to large eurytherms and subsequently allows them to colonize a global ocean provided they can tolerate fluctuations in temperature. We test 74 ecologically realistic scenarios that are then correlated with observed patterns of species richness for foraminifers and copepods, two important oceanic planktonic groups. Results We found that the model accounted for 96% of the latitudinal gradient in foraminifers and 85% for copepods. Our model both reveals how patterns of biodiversity may develop, and suggests why some taxonomic groups appear not to follow the general pattern. While climate ultimately selected species that could establish in any given habitat, we saw a strong mid-domain effect (MDE) in the niche space. We believe this negates some shortcomings of the MDE that is often assumed to occur in the geographical space. Main conclusions By showing the strong effect of temperature on biodiversity and revealing how it enables the development of a planetary gradient in marine biodiversity, our results offer a way to better understand why temperature is so often positively correlated with global patterns in species richness on a global scale.
Screening of chilli (Capsicum annuum L.) genotypes against Colletotrichum capsici and analysis of biochemical and enzymatic activities in inducing resistance

and V. PonnuswamiHorticulture College and Research Institute, Tamil Nadu Agricultural University, Coimbatore 641 003(Received: August 2007; Revised: August 2008; Accepted: August 2008)replications and five fruits per replication. An Coimbatoreisolate of C. capsici was multiplied on potato dextroseagar medium. 1 ml inoculum of 5 x 10
Efficacy and safety of PulseRider for treatment of wide-necked intracranial aneurysm—A systematic review and meta-analysis

Objective PulseRider is a novel self-expanding nickel-titanium (nitinol) stent for treatment of wide-necked aneurysms, which is commonly located at the arterial branches in the brain. This systematic review and meta-analysis aims to assess the efficacy and safety of PulseRider for treatment of wide-necked intracranial aneurysm. Method We performed a systematic literature search on articles that evaluate the efficacy and safety of PulseRider-assisted coiling of the wide-necked aneurysm from several electronic databases. The primary endpoint was adequate occlusion, defined as Raymond-Roy Class I + Raymond-Roy Class II upon immediate angiography and at six-month follow-up. Results There were a total of 157 subjects from six studies. The rate of adequate occlusion on immediate angiography was 90% (95% CI, 85%–94%) and 91% (95% CI, 85%–96%) at six-month follow-up. Of these, Raymond-Roy Class I can be observed in 48% (95% CI, 41%–56%) of aneurysms immediately after coiling, and 64% (95% CI, 55%–72%) of aneurysms on six-month follow-up. Raymond-Roy Class II was found in 30% (95% CI, 23%–37%) of aneurysms immediately after coiling, and 25% (17–33) after six-month follow-up. Complications occur in 5% (95% CI, 1%–8%) of the patients. There were three intraoperative aneurysm rupture, three thrombus formation, three procedure-related posterior cerebral artery strokes, one vessel dissection, and one delayed device thrombosis. There was no procedure/device-related death. Conclusions PulseRider-assisted coiling for treatment of patients with wide-necked aneurysm reached 90% adequate occlusion rate that rises up to 91% at sixth month with 5% complication rate.
Peripheral artery disease in outpatients with a recent history of acute coronary syndrome or at high atherothrombotic risk

Objectives The frequency and implications of peripheral artery disease (PAD) in some risk groups are not entirely characterized in Latin America. We studied PAD prevalence, risk factors, and six-month outcomes in stable outpatients with a history of a recent acute coronary syndrome (ACS), or at high coronary risk. Methods We recruited 830 outpatients in 43 Mexican sites (median age: 64.8 years; 57.8% men). Inclusion criteria were age >18 years, and ACS within 30 days, or age <55 years plus ≥2 major vascular risk factors, or age ≥55 years plus ≥1 vascular risk factors. Patients received standardized assessments at baseline and six-month follow-up for medical history, ankle-brachial index (ABI), and the Edinburgh Claudication Questionnaire (ECQ). Results ABI <0.8 was found in 10.5%, <0.9 in 22.5%, >1.3 in 4.8%, and >1.4 in 3.6%, without differences according to sex or selection criteria. Positive ECQ was found in 7.6%. ABI <0.9 was directly associated with age, diabetes, ACS, and chronic kidney disease, but inversely associated with BMI >27. The six-month case-fatality and atherothrombotic events rates were 1.6% and 3.6%, respectively. In patients with ABI <0.9 and ABI <0.8, the six-month case-fatality rates were 2.5% (p = 0.27) and 5.4% (p = 0.03), respectively. In a Cox proportional-hazards model, baseline factors associated with death were age ≥65, ABI <0.8, and ACS. Conclusions Subclinical PAD is more common than symptomatic claudication in high-risk coronary outpatients. Low ABI is associated with reduced short-term survival in patients with recent ACS or at high coronary risk.
REVISION OF THE AÏSTOPOD GENUS PHLEGETHONTIA (TETRAPODA: LEPOSPONDYLI)

Abstract The aïstopod family Phlegethontiidae is restudied based on new specimens from Pit 11 of Mazon Creek, Illinois, and the coal shales of Nýřany, Czech Republic, as well as most available specimens from North America. Phlegethontiids have highly fenestrate skulls, with orbits placed just anterior their skull's mid point. Dermal skull bones are greatly reduced in number and limited in extent, whereas the endochondral braincase is hyperossified. The frontals are fused medially and enclose the parietal foramen and anterior sagittal crest. As in most other aïstopods, the quadrate, pterygoid, and epipterygoid are fused into a composite bone, the palatoquadrate complex. Details of cranial anatomy contradict a previous model of cranial kinesis by severely limiting the skull's potential mobility. Remnants of the pectoral girdle are present, perhaps due to the presence of an operculum–opercularis-like connection to the stapes. No remnants of the pelvis are present. Three species are recognised within the family. Phlegethontia linearis has short anterior vertebrae, high neural spines on at least the anterior four vertebrae, and vertebrae number between 230–250 in total. Phlegethontia longissima has low neural spines throughout the column, anterior vertebrae that are twice as long as P. linearis, and only 200–210 total vertebrae. Sillerpeton permianum, known from a single braincase and an unassociated string of vertebrae, is distinguished from Phlegethontia by the retention of a separate foramen for the passage of the occulomotor nerve. Phlegethontia “phanerhalpa” is a tiny braincase fragment that differs from the other species of Phlegethontia only in the placement of the jugular foramen relative to the centre of the foramen magnum. This is probably a size-related feature, and P. “phanerhalpa” is considered a nomen dubium.
Development of Spherical Nucleic Acids for Prostate Cancer Immunotherapy

Although the strategy of therapeutic vaccination for the treatment of prostate cancer has advanced to and is available in the clinic (Sipuleucel-T), the efficacy of such therapy remains limited. Here, we develop Immunostimulatory Spherical Nucleic Acid (IS-SNA) nanostructures comprised of CpG oligonucleotides as adjuvant and prostate cancer peptide antigens, and evaluate their antitumor efficacy in syngeneic mouse models of prostate cancer. IS-SNAs with the specific structural feature of presenting both antigen and adjuvant CpG on the surface (hybridized model (HM) SNAs) induce stronger cytotoxic T lymphocyte (CTL) mediated antigen-specific killing of target cells than that for IS-SNAs with CpG on the surface and antigen encapsulated within the core (encapsulated model (EM) SNAs). Mechanistically, HM SNAs increase the co-delivery of CpG and antigen to dendritic cells over that for EM SNAs or admixtures of linear CpG and peptide, thereby improving cross-priming of antitumor CD8+ T cells. As a result, vaccination with HM SNAs leads to more effective antitumor immune responses in two prostate cancer models. These data demonstrate the importance of the structural positioning of peptide antigens together with adjuvants within IS-SNAs to the efficacy of IS-SNA-based cancer immunotherapy.
Demographic and mutualistic responses of stream nitrogen fixers to nutrients

Abstract. N2-fixing bacteria convert atmospheric N2 gas to biologically available forms, yet N limits primary production in many ecosystems. Despite an abundant source of N, other elements may limit N input via N2-fixation in benthic environments. We examined how N, P, and the micronutrients Fe and Mo (cofactors of nitrogenase) might affect N2-fixation. We used short-term nutrient additions to assess macronutrient effects on N2-fixation of intact epilithic biofilm in Ditch Creek, Wyoming (USA). Additions of NH4+, NO3−, and PO43− at varying concentrations did not alter N2-fixation over 4 h. We assessed macro- and micronutrient effects on N2-fixation, biofilm biomass, and composition of the biofilm algal assemblage at Ditch, Spread, and Kimball Creeks, Wyoming, via 6-wk nutrient amendments with nutrient-diffusing substrata. Fe and Mo additions did not affect N2-fixation or biofilm biomass, but NO3− and PO43− altered the biofilm biomass, algal assemblage structure, and N2-fixation. N and P colimited biofilm biomass in Ditch Creek, and P limited biofilm biomass in Spread Creek. N2-fixation was inhibited by NO3− and stimulated by PO43−. Inhibition by NO3− was stronger than stimulation by PO43−. Trends in accumulation of N2-fixers, mostly Epithemia sorex with N2-fixing endosymbionts, corresponded to effects of nutrient additions on N2-fixation. The algal assemblage shifted from N2-fixer dominance in control and P treatments to fewer N2-fixers and increased biovolume of nonN2-fixing diatoms in the N and N+P treatments. N2-fixation/unit E. sorex biovolume was inhibited by NO3− and stimulated slightly by PO43−. A combination of demographic and mutualistic responses to nutrients altered N input via N2-fixation.
Upper and Lower Limb Strength and Body Posture in Children with Congenital Hypothyroidism: An Observational Case-Control Study

Background: Congenital hypothyroidism (CH) is an endocrine disease with a precocious significant impairment of growth and neuromotor development. Thyroid hormones are essential for central nervous system development, maturation, and myelination. Furthermore, thyroid hormone deficiency affects the function of several systems, including the musculoskeletal system. The disease has a significant incidence in the general population (1:3000–1:2000 newborns in Italy). The aim of the present study was to evaluate any differences in upper and lower limb strength, body sway, and plantar loading distribution in children with CH compared to healthy children. Methods: In this study, the case group was composed of children with CH (CHG), while the control group included healthy children (CG). Both groups comprised 19 children (CHG: female = 12; CG: female = 9). The maximum isometric handgrip strength and explosive-elastic lower limb strength were assessed with the handgrip test and the Sargent test, respectively. The stabilometric and baropodometric analyses were used to measure the Center of Pressure displacements and the plantar loading distribution between feet, respectively. The differences between groups were analyzed by a univariate analysis of covariance using as covariates weight and height with the significant level set at < 0.05. Results: We found that CHG children were shorter and thinner than CG ones (p < 0.05). No significant difference in the upper and lower limb strength was found between groups. CHG exhibited a significant greater Sway Path Length (p < 0.01) and Ellipse Surface (p < 0.05) than CG. Moreover, CHG displayed an asymmetric plantar loading distribution with a significant lower percentage in the right than in the left foot (p < 0.05). Moreover, a significant lower plantar loading percentage in the right foot of CHG than in the right foot of CG was observed (p < 0.05). Conclusions: These findings seem to suggest that CH does not affect muscle strength in early treated children. However, these patients show poor postural control ability and asymmetric plantar loading distribution. Increasing the physical activity in these children could improve their body posture.
Spatial analysis of some physical soil properties in a saline and alkaline grassland soil of Kayseri, Turkey.

In this study, geostatistical analysis of electrical conductivity (EC) and soil pH values, soil clay (C), silt (Si), and sand (S) content, permanent wilting point (PWP), organic matter (OM), field capacity (FC) and water stable aggregates (WSA) were investigated in 1500 ha degraded grassland of Kayseri, Turkey. Coefficients of variations (CVs) of EC (125 -103 dS m -1 ) were higher than the other soil properties while the lowest CV was found for pH (5 - 5) in 0 - 30 (D1) and 30 - 60 cm (D2) depths. To summarize the relationships among examined soil properties, Pearson Correlation analysis was performed and significant correlations were found between LnEC-LnpH and selected physical soil properties for D1 and D2 (p<0.01 and p<0.05). Independent sample t-test indicated that the means of EC and organic matter content of soil (OM) were statistically different while there were no differences for the others (p<0.05). In geostatistical analysis, exponential model was fitted to experimental variograms for LnEC, LnC, SqSi, and LnS of D1 and LnEC of D2, while spherical model was used for LnpH, SqOM, PWP, SqFC, and SqWSA of D1 and LnpH, LnC, SqSi, LnS, SqOM, PWP, FC, and SqWSA of D2. Selected soil variables showed different degree of spatial correlation. Kriging maps showed environmentally risky areas of the study site.
Lateral Spread of Glyphosate-Resistant Transgenic Creeping Bentgrass (Agrostis stolonifera) Lines in Established Turfgrass Swards1

Genetically engineered varieties of creeping bentgrass, resistant to glyphosate, have been developed. Studies were initiated in 2000 and 2001 to examine the relative competitive lateral spread of several transformed lines of creeping bentgrass, nontransformed controls, and cultivar standards. Five-centimeter-diameter vegetative plugs of creeping bentgrass were transplanted into a 1-yr-old stand of perennial ryegrass in Columbus, OH, and 10-yr-old bermudagrass or 10-yr-old St. Augustinegrass in Loxley, AL. Plots were watered to prevent moisture stress to either the bentgrass plugs or surrounding turf swards. Monthly average diameter of the creeping bentgrass was determined by measuring the longest spread and shortest spread. At the end of the experiment, no differences (P = 0.05) in lateral spread were observed between individual lines of transgenic bentgrass, standard cultivars, and nontransformed control lines. Lateral spread of transgenic lines was similar to or less than their nontransformed parent and the standard cultivars tested. Results indicate that glyphosate-resistant creeping bentgrass lines do not spread laterally more than nontransgenic lines. Therefore, if the glyphosate-resistant creeping bentgrass escaped into surrounding turfgrass swards, the potential for spread would not be greater than other creeping bentgrass cultivars currently in use. Nomenclature: Glyphosate; bermudagrass, Cynodon dactylon L. ; creeping bentgrass, Agrostis stolonifera L. syn. Agrostis palustris Huds. ; perennial ryegrass, Lolium perenne L. ; St. Augustinegrass, Stenotaphrum secondatum S. (Walt.) Kuntze. Additional index words: Competition, genetically modified organism, GMO.