Search Results (1,756)

Nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder characterized by renal resistance to arginine vasopressin (AVP), resulting in the kidneys’ inability to concentrate urine. Approximately 90% of NDI cases follow an X-linked inheritance pattern and are associated with pathogenic variants in the AVPR2 gene, which encodes the vasopressin receptor type 2. The remaining 10% are attributed to mutations in the AQP2 gene, which encodes aquaporin-2, and may follow either autosomal dominant or recessive inheritance patterns. We present the case of a male infant, younger than nine months of age, who was clinically diagnosed with NDI at six months. The patient presented recurrent episodes of polydipsia, polyuria, dehydration, hypernatremia, and persistently low urine osmolality. Despite adjustments in pharmacologic treatment and strict monitoring of urinary output, the clinical response remained suboptimal. Given the lack of improvement and the radiological finding of an absent posterior pituitary (neurohypophysis), the possibility of coexistent central diabetes insipidus (CDI) was raised, prompting a therapeutic trial with desmopressin. Nevertheless, in the absence of clinical improvement, desmopressin was discontinued. The patient’s management was continued with hydrochlorothiazide, ibuprofen, and a high-calorie diet restricted in sodium and protein, resulting in progressive clinical stabilization. Whole-exome sequencing identified a novel homozygous missense variant in the AQP2 gene (c.398T > A; p.Val133Glu), classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria: PM2 (absent from population databases), PP2 (missense variant in a gene with a low rate of benign missense variation), and PP3 (multiple lines of computational evidence supporting a deleterious effect)]. NDI is typically diagnosed during early infancy due to the early onset of symptoms and the potential for severe complications if left untreated. In this case, although initial clinical suspicion included concomitant CDI, the timely initiation of supportive management and the subsequent incorporation of molecular diagnostics facilitated a definitive diagnosis. The identification of a previously unreported homozygous variant in AQP2 contributed to diagnostic confirmation and therapeutic decision-making. The diagnosis and comprehensive management of NDI within the context of polyuria-polydipsia syndrome necessitates a multidisciplinary approach, integrating clinical evaluation with advanced molecular diagnostics. The novel AQP2 c.398T > A (p.Val133Glu) variant described herein was associated with early and severe clinical manifestations, underscoring the importance of genetic testing in atypical or treatment-refractory presentations of diabetes insipidus. Full article

In arid and semi-arid climates, where water scarcity is a persistent challenge, accurately estimating reference evapotranspiration (ET) becomes essential for sustainable water management and agricultural planning. The objectives of this study are to compare hourly ET among P–M ASCE, P–M FAO, and P–M KSA mathematical models. In addition to the accuracy assessment of daily ET derived from hourly timestep calculations for the P–M ASCE, P–M FAO, and P–M KSA. To achieve these goals, a total of 525,600-min data points from the Riyadh region, KSA, were used to compute the reference ET at multiple temporal resolutions: hourly, daily, hourly averaged over 24 h, and daily as the sum of 24 h values, across all selected Penman–Monteith (P–M) models. For hourly investigation, the comparison between reference ET computed as average hourly values and as daily/24 h values revealed statistically and practically significant differences. The Wilcoxon test confirmed a statistically significant difference (p < 0.0001) with R² of 94.75% for ASCE, 94.87% for KSA at h_plt = 50 cm, 92.41% for FAO, and 92.44% for KSA at h_plt = 12 cm. For daily investigation, comparing the sum of 24 h ET computations to daily ET measurements revealed an underestimation of daily ET values. The Wilcoxon test confirmed a statistically significant difference (p < 0.0001), with R² exceeding 90% for all studied reference ET models. This comprehensive approach enabled a rigorous evaluation of reference ET dynamics under hyper-arid climatic conditions, which are characteristic of central Saudi Arabia. The findings contribute to the growing body of literature emphasizing the importance of high-frequency meteorological data for improving ET estimation accuracy in arid and semi-arid regions. Full article

Cattle manure accounts for approximately one-third of the total livestock manure produced in the Republic of Korea and is typically composted. To elucidate its feasibility as a renewable resource, this study evaluated the conversion of cattle manure into a solid biofuel and the nutrient recovery potential of its combustion residues. Solid fuel was prepared from cattle manure collected in Gyeongsangbuk-do, Korea, and its fuel characteristics and ash composition were analyzed after combustion. Combustion tests conducted using a dedicated solid fuel boiler showed that an average lower heating value of 13.27 MJ/kg was achieved, meeting legal standards. Under optimized combustion, CO and NO_x emissions (129.9 and 41.5 ppm) were below regulatory limits (200 and 90 ppm); PM was also within the 25 mg/Sm³ standard. The bottom ash contained high concentrations of P₂O₅ and K, and its heavy metal content was below the regulatory threshold, suggesting its potential reuse as a fertilizer material. Although the Zn concentration in the fly ash exceeded the standard, its quantity was negligible. Therefore, the solid fuel conversion of cattle manure can become a viable and environmentally sustainable solution for both bioenergy production and nutrient recycling, contributing to improved waste management in livestock operations. Full article

Replication timing (RT), the temporal order of DNA replication during S phase, influences regional mutation rates, yet the mechanistic basis for RT-associated mutagenesis remains incompletely defined. To identify drivers of RT-dependent mutation biases, we analyzed whole-genome sequencing data from cells with disruptions in DNA replication/repair genes or exposed to mutagenic compounds. Mutation distributions between early- and late-replicating regions were compared using bootstrapping and statistical modeling. We identified 14 genes that exhibit differential effects in early- or late-replicating regions, encompassing multiple DNA repair pathways, including mismatch repair (MLH1, MSH2, MSH6, PMS1, and PMS2), trans-lesion DNA synthesis (REV1) and double-strand break repair (DCLRE1A and PRKDC), DNA polymerases (POLB, POLE3, and POLE4), and other genes central to genomic instability (PARP1 and TP53). Similar analyses of mutagenic compounds revealed 19 compounds with differential effects on replication timing. These results establish replication timing as a critical modulator of mutagenesis, with distinct DNA repair pathways and exogenous agents exhibiting replication timing-specific effects on genomic instability. Our systematic bioinformatics approach identifies new DNA repair genes and mutagens that exhibit differential activity during the S phase. These findings pave the way for further investigation of factors that contribute to genome instability during cancer transformation. Full article

This study aimed to investigate the effect of wildfire episodes on air quality in terms of particulate matter (PM) and carbonaceous compound concentration in ambient air, and to assess deviations from typical annual patterns. The sampling was performed at a rural background site near the Adriatic coast in Croatia through 2024. To better understand contributions caused by fire events, the levels of organic carbon (OC), elemental carbon (EC), black carbon (BC), pyrolytic carbon (PyrC), optical carbon (OptC), water-soluble organic carbon (WSOC), levoglucosan (LG), mannosan (MNS), and galactosan (GA) were determined in PM₁₀ and PM_2.5 fractions (particles smaller than 10 µm and 2.5 µm, respectively). The annual mean concentrations of PM₁₀ and PM_2.5 were 14 µg/m³ and 8 µg/m³, respectively. During the fire episode, the PM_2.5 mass contribution to the total PM₁₀ mass exceeded 65%. Total carbon (TC) and OC increased by a factor of 7, EC and BC by 12, PyrC by 8, and WSOC by 12. The concentration of LG reached 1.219 μg/m³ in the PM₁₀ fractions and 0.954 μg/m³ in the PM_2.5 fractions, representing a 200-fold increase during the fire episode. Meteorological data were integrated to assess atmospheric conditions during the fire episode, and the specific ratios between fire-related compounds were analyzed. Full article

Soil fugitive dust (SFD) emissions pose a significant threat to both human health and the environment, highlighting the need for accurate and reliable estimation and assessment in the desert regions of northwest China. This study used climate, soil, and vegetation data from Bayingolin Prefecture (2001–2022) and applied the WEQ model to analyze temporal and spatial variations in total suspended particulate (TSP), PM₁₀, and PM_2.5 emissions and their driving factors. The region exhibited high emission factors for TSP, PM₁₀, and PM_2.5, averaging 55.46 t km⁻² a⁻¹, 27.73 t km⁻² a⁻¹, and 4.14 t km⁻² a⁻¹, respectively, with pronounced spatial heterogeneity and the highest values observed in Yuli, Qiemo, and Ruoqiang. The annual average emissions of TSP, PM₁₀, and PM_2.5 were 3.23 × 10⁷ t, 1.61 × 10⁷ t, and 2.41 × 10⁶ t, respectively. Bare land was the dominant source, contributing 72.55% of TSP emissions. Both total emissions and emission factors showed an overall upward trend, reaching their lowest point around 2012, followed by significant increases in most counties during 2012–2022. Annual precipitation, wind speed, and temperature were identified as the primary climatic drivers of soil dust emissions across all counties, and their influences exhibited pronounced spatial heterogeneity in Bazhou. In Ruoqiang, Bohu, Korla, and Qiemo, dust emissions are mainly limited by precipitation, although dry conditions and sparse vegetation can amplify the role of wind. In Heshuo, Hejing, and Yanqi, stable vegetation helps to lessen wind’s impact. In Yuli, wind speed and temperature are the main drivers, whereas in Luntai, precipitation and temperature are both important constraints. These findings highlight the need to consider emission intensity, land use, or surface condition changes, and the potential benefits of increasing vegetation cover in severely desertified areas when formulating regional dust mitigation strategies. Full article

This research focuses on medium-term load forecasting in a tropical region post-pandemic. This study presents one of the first attempts to analyze medium-term forecasting using half-hourly resolution in the Java-Bali power system post-COVID-19 period. The dataset comprises load measurements recorded every 30 min (48 data points per day) from 2014 to 2022. Three distinct methods, namely polynomial regression, split polynomial regression, and Long Short-Term Memory (LSTM) networks, were employed and compared to predict the electricity load demand. The analysis found that LSTM outperformed the other methods, exhibiting the lowest error rates with Mean Absolute Percentage Error (MAPE) at 3.86% and Root Mean Squared Error (RMSE) at 1247.93. Additionally, a consistent observation emerged, showing that all methods performed better in predicting load demand during nighttime hours (6 p.m. to 6 a.m.). The hypothesis is that data stability during nighttime, with fewer significant fluctuations, contributed to the improved prediction accuracy. These findings provide valuable insights for improving load forecasting in the post-pandemic tropical region and offer opportunities for enhancing power grid efficiency and reliability. Full article

Long-term source apportionment of PM_2.5 during high-pollution periods is essential for achieving sustained reductions in both PM_2.5 levels and their health impacts. This study conducted PM_2.5 sampling in Shenzhen from January to March over the years 2021–2024 to investigate the long-term impact of coronavirus disease 2019 and the short-term impact of the Spring Festival on PM_2.5 levels. The measured average PM_2.5 concentration during the research period was 22.5 μg/m³, with organic matter (OM) being the dominant component. Vehicle emissions, secondary sulfate, secondary nitrate, and secondary organic aerosol were identified by receptor model as the primary sources of PM_2.5 during the observational periods. The pandemic led to a decrease of between 30% and 50% in the contributions of most anthropogenic sources in 2022 compared to 2021, followed by a rebound. PM_2.5 levels in January–March 2024 dropped by 1.4 μg/m³ compared to 2021, mainly due to reduced vehicle emissions, secondary sulfate, fugitive dust, biomass burning, and industrial emissions, reflecting Shenzhen’s and nearby cities’ effective control measures. However, secondary nitrate and fireworks-related emissions rose significantly. During the Spring Festival, PM_2.5 concentrations were 23% lower than before the festival, but the contributions of fireworks burning exhibited a marked increase in both 2023 and 2024. Specifically, during intense peak events, fireworks burning triggered sharp, short-term spikes in characteristic metal concentrations, accounting for over 50% of PM_2.5 on those peak days. In the future, strict control over vehicle emissions and enhanced management of fireworks burning during special periods like the Spring Festival are necessary to reduce PM_2.5 concentration and improve air quality. Full article

According to the World Health Organization (WHO), indoor air quality (IAQ) is becoming a serious global concern due to its significant impact on human health. However, not all relevant health parameters are currently regulated. For example, particle number concentration (PNC) and its associated carbonaceous species, such as black carbon (BC), which are classified as carcinogenic by the International Agency for Research on Cancer (IARC), are not currently regulated. Compared with IAQ studies in other types of buildings, studies focusing on IAQ in hospitals or other healthcare facilities are scarce. Therefore, this study aims to evaluate the impact of these outdoor pollutants, among others, on the indoor environment of a hospital under different atmospheric conditions. To identify the seasonal influence, two different periods of two consecutive seasons (summer 2020 and winter 2021) were selected for the measurements. Regulated pollutants (NO, NO₂, O₃, PM₁₀, and PM_2.5) and nonregulated pollutants (PM₁, PNC, and equivalent BC (eBC)) in outdoor air were simultaneously measured indoor and outdoor. This study also investigated the impact of indoor activities on indoor air quality. In the absence of indoor activities, outdoor sources significantly contribute to indoor traffic-related pollutants. Indoor and outdoor (I-O) measurements showed similar behavior, but indoor concentrations were lower, with peak levels delayed by up to two hours. Seasonal variations in indoor/outdoor ($\mathrm{I}/\mathrm{O}$) ratios were lower for particles than for associated gaseous pollutants. Particle infiltration depended on particle size, with it being higher the smaller the particle size. Indoor activities also significantly affected indoor pollutants. PM_x (especially PM₁₀ and PM_2.5) concentrations were mainly modulated by walking-induced particle resuspension. Vertical eBC profiles indicated a relatively well-mixed environment. Ventilation through open windows rapidly altered indoor air quality. Outdoor-dominant pollutants (PNC, eBC, and NO_X) had $\mathrm{I}/\mathrm{O}$ ratios ≥ 1. Staying in the room with an open window had a synergistic effect, increasing the $\mathrm{I}/\mathrm{O}$ ratios for all pollutants. Higher I/O ratios were associated with turbulent outdoor conditions in both unoccupied and occupied conditions. Statistically significant differences were observed between stable (TKE ≤ 1 m² s⁻²) and unstable (TKE > 1 m² s⁻²) conditions, except for NO₂ in summer. This finding was particularly significant when the wind direction was westerly or easterly during unstable conditions. The results of this study highlight the importance of understanding the behavior of indoor particulate matter and related pollutants. These pollutants are highly variable, and knowledge about them is crucial for determining their health effects, particularly in public buildings such as hospitals, where information on IAQ is often limited. More measurement data is particularly important for further research into I-O transport mechanisms, which are essential for developing preventive measures and improving IAQ. Full article

Background: As a well-known environmental hazard, ambient fine particulate matter (PM_2.5, aerodynamic diameter ≤ 2.5 µm) has been positively correlated with an increased risk of digestive system diseases, including appendicitis, inflammatory bowel disease, and gastrointestinal cancer. Additionally, PM_2.5 exposure has been shown to alter microbiota composition and diversity in human and animal models. However, its impact on goblet cells and gut mucus barrier integrity remains unclear. Methods: To address this, 8-week-old male and female interleukin-10 knockout (IL10^−/−) mice, serving as a spontaneous colitis model, were exposed to concentrated ambient PM_2.5 or filtered air (FA) in a whole-body exposure system for 17 weeks. Colon tissues from the PM_2.5-exposed mice and LS174T goblet cells were analyzed using H&E staining, transmission electron microscopy (TEM), and transcriptomic profiling. Results: The average PM_2.5 concentration in the exposure chamber was 100.20 ± 13.79 µg/m³. PM_2.5 exposure in the IL10^−/− mice led to pronounced colon shortening, increased inflammatory infiltration, ragged villi brush borders, dense goblet cells with sparse enterocytes, and lipid droplet accumulation in mitochondria. Similar ultrastructure changes were exhibited in the LS174T goblet cells after PM_2.5 exposure. Transcriptomic analysis revealed a predominantly upregulated gene expression spectrum, indicating an overall enhancement rather than suppression of metabolic activity after PM_2.5 exposure. Integrated enrichment analyses, including GO, KEGG, and GSEA, showed enrichment in pathways related to oxidative stress, xenobiotic (exogenous compound) metabolism, and energy metabolism. METAFlux, a metabolic activity analysis, further substantiated that PM_2.5 exposure induces a shift in cellular energy metabolism preference and disrupts redox homeostasis. Conclusions: The findings of exacerbated gut barrier impairment and goblet cell dysfunction following PM_2.5 exposure provide new evidence of environmental factors contributing to colitis, highlighting new perspectives on its role in the pathogenesis of colitis. Full article

The inter-provincial border region in eastern China, encompassing the junction of Jiangsu, Anhui, Shandong, and Henan provinces, serves as a crucial zone that connects the important economic zones of Beijing–Tianjin–Hebei and the Yangtze River Delta. It is of great significance to study the temporal variation characteristics, spatial distribution patterns, and driving factors of PM_2.5 concentrations in this region. Based on the PM_2.5 concentration observation data, ground meteorological data, environmental data, and socio-economic data from 2022 to 2024, this study conducted in-depth and systematic research by using advanced methods, such as spatial autocorrelation analysis and geographical detectors. The research results show that the concentration of PM_2.5 rose from 2022 to 2023, but decreased from 2023 to 2024. From the perspective of seasonal variations, the concentration of PM_2.5 shows a distinct characteristic of being “high in winter and low in summer”. The monthly variation shows a “U”-shaped distribution pattern. In terms of spatial changes, the PM_2.5 concentration in the inter-provincial border region of eastern China (Jiangsu, Anhui, Shandong, Henan) forms a gradient difference of “higher in the west and lower in the east”. The high-concentration agglomeration areas are mainly concentrated in the Henan part of the study region, while the low-concentration agglomeration areas are distributed in the eastern coastal parts of the study region. The analysis of the driving factors of the PM_2.5 concentration based on geographical detectors reveals that the average temperature is the main factor affecting the PM_2.5 concentration. The interaction among the factors contributing to the spatial differentiation of the PM_2.5 concentration is very obvious. Temperature and population density (q = 0.92), temperature and precipitation (q = 0.95), slope and precipitation (q = 0.97), as well as DEM and population density (q = 0.96), are the main combinations of factors that have continuously affected the spatial differentiation of the PM_2.5 concentration for many years. The research results from this study provide a scientific basis and decision support for the prevention, control, and governance of PM_2.5 pollution. Full article

The occurrence of haze pollution significantly deteriorates air quality and threatens human health, yet persistent knowledge gaps in real-time source apportionment of fine particulate matter (PM_2.5) hinder sustained improvements in atmospheric pollution conditions. Thus, this study employed single-particle aerosol mass spectrometry (SPAMS) to investigate PM_2.5 sources and dynamics during winter haze episodes in Yinchuan, Northwest China. Results showed that the average PM_2.5 concentration was 57 μg·m⁻³, peaking at 218 μg·m⁻³. PM_2.5 was dominated by organic carbon (OC, 17.3%), mixed carbonaceous particles (ECOC, 17.0%), and elemental carbon (EC, 14.3%). The primary sources were coal combustion (26.4%), fugitive dust (25.8%), and vehicle emissions (19.1%). Residential coal burning dominated coal emissions (80.9%), highlighting inefficient decentralized heating. Source contributions showed distinct diurnal patterns: coal combustion peaked nocturnally (29.3% at 09:00) due to heating and inversions, fugitive dust rose at night (28.6% at 19:00) from construction and low winds, and vehicle emissions aligned with traffic (17.5% at 07:00). Haze episodes were driven by synergistic increases in local coal (+4.0%), dust (+2.7%), and vehicle (+2.1%) emissions, compounded by regional transport (10.1–36.7%) of aged particles from northwestern zones. Fugitive dust correlated with sulfur dioxide (SO₂) and ozone (O₃) (p < 0.01), suggesting roles as carriers and reactive interfaces. Findings confirm local emission dominance with spatiotemporal heterogeneity and regional transport influence. SPAMS effectively resolved short-term pollution dynamics, providing critical insights for targeted air quality management in arid regions. Full article

In this study, we introduced a novel Trajectory-Channel Transport Model (TCTM) to unravel spatiotemporal dynamics of PM_2.5 pollution. By integrating high-resolution simulations from the Weather Research and Forecasting (WRF) model with the Nested Air-Quality Prediction Modeling System (WRF-NAQPMS) and 72 h backward-trajectory analysis, TCTM enables the precise identification of source regions, the delineation of key transport corridors, and a quantitative assessment of regional contributions to receptor sites. Focusing on four Yangtze River Delta cities (Hangzhou, Shanghai, Nanjing, Hefei) during a January 2020 pollution event, the results demonstrate that TCTM’s Weighted Concentration Source (WCS) and Source Pollution Characteristic Index (SPCI) outperform traditional PSCF and CWT methods in source-attribution accuracy and resolution. Unlike receptor-based statistical approaches, TCTM reconstructs pollutant transport processes, quantifies spatial decay, and assigns contributions via physically interpretable metrics. This innovative framework offers actionable insights for targeted air-quality management strategies, highlighting its potential as a robust tool for pollution mitigation planning. Full article

Since dust aerosols are one of the major pollutants in Georgia, it is important to study the aeolian desert dust (ADD) invasion to Georgia from the neighboring deserts to find out its contribution to the dust pollution problem. Therefore, the main objective of this study is to investigate the history, frequency and routes of ADD invasions to the Caucasus (Georgia) using modern models and technologies for 1.5 years. Using WRF-Chem/dust, CAMS and HYSPLIT mathematical models; MODIS satellite images; and PM10 field data, 38 cases of not strong ADD invasions to Georgia were found, and two typical cases are presented and analyzed in this paper. The results of the modeling studies from 15 March 2023 to 15 September 2024 showed that the WRF-Chem/dust (GOCART) v.4.5.1 model simulated the ADD transport to Georgia from the surrounding deserts quite well. Daily monitoring of ADD migration routes showed that in the easternmost region of Georgia (the most vinicultural and agricultural region), the number of ADD invasions was approximately three times higher than in other regions of Georgia, which is a novelty of this study due to the lack of ground dust measurement stations in the easternmost region of Georgia. Full article

This study investigated the degradation efficacy, kinetics, and mechanism of the ozone (O₃) process and two enhanced O₃ processes (O₃/peroxymonosulfate (O₃/PMS) and O₃/peroxymonosulfate/iron molybdates/biochar composite (O₃/PMS/FeMoBC)), especially the O₃/PMS/FeMoBC process, for the degradation of tetracycline (TC) in water. An FeMoBC sample was synthesized by the impregnation–pyrolysis method. The XRD results showed that the material loaded on BC was an iron molybdates composite, in which Fe₂Mo₃O₈ and FeMoO₄ accounted for 26.3% and 73.7% of the composite, respectively. The experiments showed that, for the O₃/PMS/FeMoBC process, the optimum conditions were obtained at pH 6.8 ± 0.1, an initial concentration of TC of 0.03 mM, an FeMoBC dosage set at 200 mg/L, a gaseous O₃ concentration set at 3.6 mg/L, and a PMS concentration set at 30 μM. Under these reaction conditions, the degradation rate of TC in 8 min and 14 min reached 94.3% and 98.6%, respectively, and the TC could be reduced below the detection limit (10 μg/L) after 20 min of reaction. After recycling for five times, the degradation rate of TC could still reach about 40%. The introduction of FeMoBC into the O₃/PMS system significantly improved the TC degradation efficacy and resistance to inorganic anion interference. Meanwhile, it enhanced the generation of hydroxyl radicals (^•OH) and sulfate radicals (SO₄^•−), thus improving the oxidizing efficiency of TC in water. Material characterization analysis showed that FeMoBC has a well-developed porous structure and abundant active sites, which is beneficial for the degradation of pollutants. The reaction mechanism of the O₃/PMS/FeMoBC system was speculated by the EPR technique and quenching experiments. The results showed that FeMoBC efficiently catalyzed the O₃/PMS process to generate a variety of reactive oxygen species, leading to the efficient degradation of TC. There are four active oxidants in O₃/PMS/FeMoBC system, namely ^•OH, SO₄^•−, ¹O₂, and •O₂⁻. The order of their contribution importance was ^•OH, ¹O₂, SO₄^•−, and •O₂⁻. This study provides an effective technological pathway for the removal of refractory organic matter in the aquatic environment. Full article