Miracle-dz/UniFAR-FTUs huggingface dataset:
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

Background Congenital heart disease (CHD) affecting the conotruncal region of the heart, occur in half of patients with 22q11.2 deletion syndrome. This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1, mapped to the 22q11.2 region, encoding a T-box transcription factor, is one of the main genes for the etiology of the syndrome. We suggest that genetic modifiers of CHD in patients with 22q11.2 deletion syndrome may be in the TBX1 gene network. Methods To identify genetic modifiers of 22q11.2 deletion syndrome, we analyzed whole genome sequence of subjects with 22q11.2DS, of which 456 were cases with conotruncal heart defects and 537 were controls with normal cardiac structures. We retained the most damaging rare coding variants and examined 19 functional gene sets for association that were weighted upon expression of genes in cardiac progenitor cells in mouse embryos identified by RNA-sequencing. Results We identified rare damaging coding variants in chromatin regulatory genes as modifiers of conotruncal heart defects in 22q11.2DS. Chromatin genes with recurrent damaging variants include EP400, KAT6A, KMT2C, KMT2D, NSD1, CHD7 and PHF21A. In total, we identified 37 chromatin regulatory genes, that may increase risk for conotruncal heart defects in 8.5% of 22q11.2 deletion syndrome cases. Many of these genes were identified as risk factors for sporadic CHD in the general population increasing the likelihood that these genes are medically important contributors for CHD. These genes are co-expressed in cardiac progenitor cells with TBX1, suggesting that they may be in the same genetic network. Some of the genes identified, such as KAT6A, KMT2C, CHD7 and EZH2, have been previously shown to genetically interact with TBX1 in mouse models, providing mechanistic validation of these genes found. Conclusions Our findings indicate that disturbance of chromatin regulatory genes impact a TBX1 gene network serving as genetic modifiers of 22q11.2 deletion syndrome. Since some of these chromatin regulatory genes were found in individuals with sporadic CHD, we suggest that there are shared mechanisms involving the TBX1 gene network in the etiology of CHD.
Impact of a base metal smelter on the geochemistry of soils of the Flin Flon region, Manitoba and Saskatchewan

The regional dispersal patterns of six trace metals (As, Cd, Cu, Hg, Pb, Zn) emitted from the base metal smelter at Flin Flon were examined in surface soils and at depth, using an extensive regional geochemical database for humus and the underlying till. Humus is enriched in those elements emitted from the smelter, and regional dispersal patterns reflect the historical record of smelter contamination. The concentrations of the smelter metals decrease with increasing distance from the stack, until background values are reached, indicating atmospheric fallout from the smelter plume. Smelter contamination is generally restricted to the surface organic-rich horizons, and concentrations of smelter metals in till reflect the absence of significant contamination at depth in the upper C horizon of soils. The maximum radius of contamination varies among the major smelter metals, ranging from 70 km for Cd to 104 km for As. No direct relationship exists among emission, deposition, and sink concentrations, reflecting.
Preliminary support for the construct of health care empowerment in the context of treatment for human immunodeficiency virus

Background: The Model of Health Care Empowerment (HCE) defines HCE as the process and state of being engaged, informed, collaborative, committed, and tolerant of uncertainty regarding health care. We examined the hypothesized antecedents and clinical outcomes of this model using data from ongoing human immunodeficiency virus (HIV)-related research. The purpose of this paper is to explore whether a new measure of HCE offers direction for understanding patient engagement in HIV medical care. Using data from two ongoing trials of social and behavioral aspects of HIV treatment, we examined preliminary support for hypothesized clinical outcomes and antecedents of HCE in the context of HIV treatment. Methods: This was a cross-sectional analysis of 12-month data from study 1 (a longitudinal cohort study of male couples in which one or both partners are HIV-seropositive and taking HIV medications) and 6-month data from study 2, a randomized controlled trial of HIV-seropositive persons not on antiretroviral therapy at baseline despite meeting guidelines for treatment. From studies 1 and 2, 254 and 148 participants were included, respectively. Hypothesized antecedents included cultural/social/environmental factors (demographics, HIV-related stigma), personal resources (social problem-solving, treatment knowledge and beliefs, treatment decision-making, shared decision-making, decisional balance, assertive communication, trust in providers, personal knowledge by provider, social support), and intrapersonal factors (depressive symptoms, positive/ negative affect, and perceived stress). Hypothesized clinical outcomes of HCE included primary care appointment attendance, antiretroviral therapy use, adherence self-efficacy, medication adherence, CD4 + cell count, and HIV viral load. Results: Although there was no association observed between HCE and HIV viral load and CD4 + cell count, there were significant positive associations of HCE scores with likelihood of reporting a recent primary care visit, greater treatment adherence self-efficacy, and higher adherence to antiretroviral therapy. Hypothesized antecedents of HCE included higher beliefs in the necessity of treatment and positive provider relationships.
Consistency assessment of Atmospheric Infrared Sounder and Infrared Atmospheric Sounding Interferometer radiances: Double differences versus simultaneous nadir overpasses

[1] Quantifying the radiometric difference and creating a calibration link between Atmospheric Infrared Sounder (AIRS) on Aqua and Infrared Atmospheric Sounding Interferometer (IASI) on MetOp are crucial for creating fundamental climate data records and intercalibrating other narrowband or broadband satellite instruments. This study employs two different methods to assess the AIRS and IASI radiance consistency within the four Geostationary Operational Environmental Satellite (GOES) imager infrared channels (with central wavelengths at 6.7, 10.7, 12.0, and 13.3 μm) through a period of 2 years and 9 months. The first method employs the differences of AIRS and IASI relative to the GOES observations sampled in the tropics to indirectly track the AIRS and IASI radiance differences. The second approach directly compares AIRS and IASI in the polar regions through the simultaneous nadir overpass observations. Both methods reveal that AIRS and IASI radiances are in good agreement with each other both in the tropics and in the polar regions within GOES imager channels used in this study, while AIRS is found to be slightly warmer than IASI by less than 0.1 K.
The shallow structure beneath Montserrat (West Indies) from new Bouguer gravity data

Although the persistently active Soufrière Hills Volcano (Montserrat, West Indies) is one of the most extensively studied active stratovolcanoes, a local Bouguer gravity map of the volcano and the island of Montserrat has yet to be constructed. We collected 157 new gravity data, which we analyzed and inverted in order to constrain the island's subsurface density distribution. Our model results reveal high‐density material beneath the centers of the extinct volcanic complexes—presumably related to exposed dome cores—while the volcanic flanks and the active Soufrière Hills Volcano are underlain by low‐density material. Volcaniclastic deposits and subsurface melt aggregations, respectively, may explain these negative gravity anomalies. Our results are in good agreement with previous structural observations from seismic tomography; however, a higher spatial density of the gravity survey network has allowed us to additionally capture smaller, shallow‐seated anomalies in the gravity field that relate to tectonic structures and fluvial filling deposits.
Tidal, Riverine, and Wind Influences on the Circulation of a Macrotidal Estuary

AbstractThe effect of tides, river, wind and Earth’s rotation on the three-dimensional circulation in the Dee, a macrotidal estuary, are investigated using a fine-resolution model. The interactions of the large tidal amplitude, currents, river, and wind-generated circulation require baroclinic and unsteady studies to properly understand the estuarine dynamics. Assessment of the model skill has been carried out by model–observation comparisons for salinity, which is the main control for density, surface elevation, current, and turbulence. Stationary nondimensional numbers were only partially able to characterize the dynamics in this (real) complex macrotidal estuary. At low water, tidal straining and constrained river flow cause stratification. Large spatial variability occurs in the current and residual patterns, with flood-dominated maximum values occurring within the tidal channels. The tides control residual circulation by modulating stratification through tidal straining and bathymetric constraint on .
Effect of Environmental Management Guidelines on Home Safety level among Elderly People

The home safety is an imperative issue, especially for senior people; hence the changes of the lodging environment are essential for their safety and health. Study aim : to detect the effect of environmental management guidelines on home safety level among elderly people. Design : Quasi-experimental research design (pre and posttest). Setting : Participants were selected from outpatient clinics of Assiut university hospital, Assiut governorate. Tools : three tools were utilized. Tool I: A structured questionnaire includes demographic characteristics. Tool II : Home Safety Self-Assessment scale . Tool III : Home safety level questionnaire. Results : It was found that elders' home safety level score increased from 36.3% in pretest to 54.4% in posttest with a high statistical significant difference P =0.000. Added to, there were statistically significant relations between age, residence, and educational level and home safety level of the studied sample. Conclusion : Numerous seniors are living in potentially unsafe environment and the application of environmental management guidelines was effective in increasing their home safety level. Recommendation : More authoritative work in this zone should be carried out.
Audit Quality Review: An Analysis Projecting the Past, Present, and Future

Literature on audit quality remains plenteous, with researchers contemplating the area for 'forever and a day’. The present study proposes synthesising the existing literature on audit quality, discerning the prominent themes and providing future research avenues. This paper attempts to analyse and synthesise the dynamics of audit quality research by employing the diminuendos of systematic literature review with bibliometric and content analysis. Scopus database has been gleaned to systematically retrieve the literature on audit quality from 1981-2022. Analysing the 1101 relevant articles under review makes the USA the highest contributor. It is, however, enthralling to note that developing countries have also registered increased interest in the topic. Apart from the other documented findings, the study concluded that research has witnessed impeccable growth over the years under various lenses, which have been precisely synthesised into six clusters. While various reviews have been conducted using innumerable qualitative methods, this study attempts to employ quantitative methods to synthesise the extant literature, which is a rarity.
Advanced or postponed motherhood? Migrants’ and natives’ gap between ideal and actual age at first birth in Spain

BACKGROUND The analysis of migrants’ preferences on the timing of fertility offers insights on how the migration experience and the contextual characteristics at destination might shape migrant women’s expectations and behaviors. OBJECTIVE This paper explores the ideal age at first birth among Spanish and foreign-born women in Spain and its gap in relation to the actual age at first birth among those who are mothers. METHOD We use the 2018 Spanish Fertility Survey to study respondents’ ideal age at first birth and the gap between ideal and actual age – whether a postponement or an advancement. We analyze the variation of the gap by age at arrival into Spain and the motherhood status at migration, together with contextual and sociodemographic characteristics.
An Innovative Numerical Method Utilizing Novel Cubic B-Spline Approximations to Solve Burgers’ Equation

Burgers’ equation is a nonlinear partial differential equation that appears in various areas of physics and engineering. Finding accurate and efficient numerical methods to solve this equation is crucial for understanding complex fluid flow phenomena. In this study, we propose a spline-based numerical technique for the numerical solution of Burgers’ equation. The space derivative is discretized using cubic B-splines with new approximations for the second order. Typical finite differences are used to estimate the time derivative. Additionally, the scheme undergoes a stability study to ensure minimal error accumulation, and its convergence is investigated. The primary advantage of this scheme is that it generates an approximate solution as a smooth piecewise continuous function, enabling approximation at any point within the domain. The scheme is subjected to a numerical study, and the obtained results are compared to those previously reported in the literature to demonstrate the effectiveness of the proposed approach. Overall, this study aims to contribute to the development of efficient and accurate numerical methods for solving Burgers’ equation. The spline-based approach presented herein has the potential to advance our understanding of complex fluid flow phenomena and facilitate more reliable predictions in a range of practical applications.
Bivalve Mollusks in Yeongil Bay, Korea, 1. Introductory Part and Annotated List of Species

An annotated listing of bivalve mollusks collected at 31 sampling sites in Yeongil Bay (eastern coast of Korea) at a depth of 0-52m is presented here. A total of 98 species belonging to 75 genera and 36 families are enumerated; all species are provided with habitat data (bathymetric distribution and bottom sediments character), given separately far living and dead (empty shells) specimens, and some with taxonomic and zoogeographic comments. Fifty-six species are illustrated with photographs. Astarte hakodatensis Yokoyama, 1920 (Astartidae), Nitidotellina pallidula (Lischke 1871) (Tellinidae) and Lyonsia nuculanoformis Scarlato in Volova et Scarlato, 1980 (Lyonsiidae) are found to be new to the Korean fauna, and the genus Salaputium Iredale, 1924 (Crassatellidae) with one species Salapurium Iredale, 1924(Crassatellidae) with one species Salaputium cf. unicum Hayami and Kase, 1993, previously described as being found only from submarine caves in the Ryukyu Islands, is recorded as being found in the East Sea(Sea of Japan) for the first time.
Reef‐capping laminites in the Upper Silurian carbonate‐ to‐evaporite transition, Michigan Basin, south‐western Ontario

Silurian pinnacle reefs in the subsurface of the south‐western Ontario portion of the Michigan Basin display a variety of laminated carbonates (laminites) within predominantly muddy reef‐capping facies in the upper part of the Guelph Formation and the overlying A‐1 Carbonate of the Salina Group. Laminites, which are limestone, dolomite or partially dolomitized limestones, have a range of morphologies, from simple planar to a variety of wavy and serrated forms. Individual laminae are composed mainly of micrite, microspar or replacive dolomite, and vary internally from isopachous and continuous over the diameter of the core to non‐isopachous and often discontinuous. Clotted and peloidal micrite, sometimes defining small knobs and chambers, is interpreted as being microbial in origin and occurs within all types of laminites. Fibrous cement locally comprises laminite clasts in breccias or coats clasts in breccias, and also occurs as spherulites in the interparticle spaces in breccias. Although similar laminites have been described from elsewhere in the Michigan Basin and interpreted as caliche, travertine and abiotic subtidal stromatolites, the laminites in south‐western Ontario are most realistically regarded as microbial. The causes for the variations in morphology and characteristics of the constituent laminae are uncertain, although fluctuations in local microenvironmental conditions would have been important, set against a backdrop of an increasingly restricted overall setting. Caliche or travertine origins for these laminites are unlikely in general, except perhaps locally at the subaerial exposure surface at the tops of pinnacle reefs.
The Diversity of Life in African Freshwaters: Under Water, Under Threat: An Analysis of the Status and Distribution of Freshwater Species throughout Mainland Africa

This volume gives the most up-to-date information on the distributions and conservation status of species in all inland water ecosystems across mainland continental Africa and the reasons behind their declining status. This represents the most comprehensive assessment yet of freshwater biodiversity at the species level for an entire continent. For managers, this information will assist in designing and delivering targeted action to mitigate and minimise these threats. From a policy perspective, this information is fundamental to meeting national obligations under the Convention on Biological Diversity (CBD), the Ramsar Convention, and the Millennium Development Goals (MDGs), and will input to national-level conservation priority setting.
Geochemical Study of the Mineralized System Bukovik–Kadiica, Eastern Macedonia

In accordance with the performed regional and detailed geochemical studies of the stream sediments, soils and rock chips, at the wider area of the Bukovik–Kadiica locality near Pehcevo town, Eastern Macedonia, regional and local polymetallic geochemical anomalies of elements such are Cu, Fe, S, Mo, Au, Pb, Zn, Sn, As, Sb, Ti, V, Co etc were detected. However, copper, molybdenum, silver, lead and zinc, appeared to have most standard values which coincides with the former geochemical studies. This data directly point to an existence of the copper mineralization in a wider area that coincides with the structural-metallogenic features of the Bukovik–Kadiica area, also. Detailed studies allowed calculation of the correlation factors of the most frequent elements in the area of interest. Especially significant correlation factors were detected for the elemental pairs such as Cu-Ag, Fe-Cu, Zn-Au, Pb-Ag and Pb-As.
Detailed seismic stratigraphy of Lago Puyehue: implications for the mode and timing of glacier retreat in the Chilean Lake District

Lago Puyehue is a glacigenic lake in the Chilean Lake District (40°S) with a complex deglaciation history. A detailed seismic–stratigraphic study of its sedimentary infill indicates a much earlier retreat of the glacier from the Lago Puyehue basin than the neighbouring glacier from the Lago Rupanco basin. Because of their close proximity, Rupanco meltwater streams played an important part in the depositional processes of Lago Puyehue. A timing discrepancy between the in‐lake ages of a sediment core and the outer‐lake ages of moraine deposits (re)opens the discussion on the timing of deglaciation in the Southern Hemisphere. Copyright © 2011 John Wiley & Sons, Ltd.
Upper ocean salinity balance in the western equatorial

The upper ocean salinity balance in the western equatorial Pacific warm pool was evaluated using up to 2.5 years of data (September 1991 through April 1994) from the Coupled Ocean-Atmosphere Response Experiment's enhanced monitoring array of moorings. At the central mooring site (0°, 156°E), precipitation had a record-length mean of 4.5 m yr−1, while evaporation had a mean of 1.4 m yr−1. This excess surface freshwater flux was balanced primarily by vertical mixing (estimated as the residual of a salt budget calculation) and by zonal advection. For timescales between a month and 2.5 years, surface salinity variability was dominated by zonal advection and only weakly correlated with precipitation, consistent with the concept of a zonally migrating “fresh pool. ” The effects of precipitation on local surface salinity variations were more apparent for timescales shorter than a month. Shallow rain “puddles” tended to form in a matter of hours. However, owing to the combination of mixing and advection, these precipitation-generated freshwater puddles were typically short-lived.
Fish diversity and assemblage structure in Ken River of Panna landscape, central India

Fish diversity and assemblage structure in relation to habitat variables were studied in 15 sites in Panna landscape, central India. The sampling was performed between February-April 2009. Fifty species of fishes belonging to 32 genera, 15 families and four orders were recorded from the study area. Cyprinids were the dominant assemblage members in all study streams (abundance ranges from 56.6-94.5 %). The cyprinid Devario aequipinnatus and the snakehead Channa gachua had highest local dominance (80% each) in Panna landscape. High Shannon and Margalef’s diversity was recorded in Madla region of Ken River. Similarity cluster analysis explained the study sites along Ken River (Gahrighat, Magradabri and Madla) had similar faunal assemblage. Canonical Correspondence Analysis (CCA) was performed to study the species association with a set of environmental variables. The CCA revealed that cyprinid abundance was associated with stream order, deeper habitat, flow and water temperature.
Changes in temperature and precipitation extremes over the Indo‐Pacific region from 1971 to 2005

Up‐to‐date regional and local assessments of changing climate extremes are important to allow countries to make informed decisions on mitigation and adaptation strategies, and to put these changes into a global context. A workshop for countries from the Indo‐Pacific region has brought together daily observations from 13 countries for an analysis of climate extremes between 1971 and 2005. This paper makes use of the workshop outcomes and post‐workshop analyses to build on previous work in Southeast Asia to update the assessment of changing climate extremes using newly available station data. We utilise a consistent and widely tested methodology to allow a direct comparison of the results with those from other parts of the world. The relationship of inter‐annual variability in the climate extremes indices with sea surface temperature (SST) patterns has been investigated with a focus on the influence of the El Niño‐Southern Oscillation phenomenon. The results support findings from elsewhere around the globe that warm extremes, particularly at night, are increasing and cold extremes are decreasing. Trends in precipitation extremes are less spatially consistent across the region. © Royal Meteorological Society and Crown Copyright 2010.