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Logarithmic, power, and parabolic distribution laws were proven to be efficient for the prediction of vertical velocity distribution. Traditionally, the distribution formulas involve the friction velocity (u*) and the depth (y) of the measurement point. The low availability of friction velocity and limitation of real water depth data hindered the promotion and comparison of the available flow velocity formulas. In this paper, we proposed a new formula structure adopting a relative flow velocity based on mean vertical velocity (u/ū) and dimensionless relative water depth (y/H). The observations showed the following. (1) The substitution of u* and y with u/ū and y/H were reliable and applicable. Parabolic logarithmic and power fitting curves worked well, with an error of 7%, 10%, and 11%, respectively. (2) In water depth direction, the predicted results of the middle depth of the vertical profiles tend to be more reliable and precise. The highest estimated error appeared in the area near the water surface. (3) Higher catchment slope resulted in larger coefficients and constants in logarithmic and power fitting. (4) In the rivers with higher width-to-depth ratio, the maximum profile velocity occurred closer to the water surface, and mean profile velocity tended to happen more at the bottom. [ABSTRACT FROM AUTHOR]

Seldom studied before, the vertical profile velocity is indicative of the flood process and nutrient transportation process. In this paper, a substitution of cross section hydraulic radius with vertical depth was made to the Manning formula, which was then applied in the vertical profile velocity determination. Simultaneously, the determination accuracy and its relationship with hydraulic conditions were discussed, based on the 1050 vertical profiles sampled from 140 cross sections in flood and moderate level seasons. The observations show the following. (1) The modified Manning formula provides a simplified approach for vertical profile velocity determination with acceptable accuracy. (2) The fitting quality of the profile velocity from the middle region of the cross section and the flood season were higher than that from near the bank or the moderate level season. The coefficient of determination (R2) of the regression for the moderate level season and the flood season were 0.55 and 0.58, while the Nash-Sutcliffe coefficients were 0.64 and 0.82, respectively. (3) Analysis of the determination error and the coefficient of variation showed a positive correlation with the river aspect ratio. This seems to suggest that the modified Manning formula tends to be more applicable in narrow and deep rivers. More measurements from rivers or channels with a high aspect ratio would be meaningful for future research. [ABSTRACT FROM AUTHOR]

River quality management involves complex challenges due to inherent uncertainties in various parameters, especially when dealing with controllable and uncontrollable pollutants. This study integrates a finite volume approach, called SEF (symmetric exponential function), with Monte Carlo simulations in MATLAB to solve the advection-dispersion equation, focusing on evaluating river quality protection tools by considering failure probability (P f ). Critical specifications for maintaining reliable river ecosystem performance are identified. We simulate assimilation capacity for managing river water quality against controllable pollutants to satisfy allowable pollution concentration at the high-reliability index. Using the Genetic Programming (GP) algorithm, a new accurate equation for assimilation capacity calculation is presented considering P f for the first time. Results indicate that flow velocity significantly affects river assimilation capacity: increasing velocity can shift the river to a hazardous state while decreasing it allows for greater pollutant assimilation. Sustainable protection tools, including dilution flow and detention time, are considered to manage uncontrollable pollutants within a specific time (T c ) and river length constraints (L c ), safeguarding river water quality for both human and animal populations. Dilution flow is practical for specific base velocities but ineffective at high base flow rates. Conversely, detention time consistently protects water quality across all base flow velocities within the L c constraint. Moreover, this study introduces the ratio of detention time to initial pollution contact duration as a vital water quality index to protect the rivers' environment. Combining numerical methods with reliability analysis and soft computing techniques, this research provides valuable insights into river system dynamics and protecting river water quality., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2025 The Authors. Published by Elsevier Inc. All rights reserved.)

The Ba River in Vietnam has been facing pollution due to waste generation from agricultural and urban areas. This study focuses on evaluating the spatiotemporal variations in river water quality based on physicochemical characteristics and pesticide parameters for different seasons in 2022-2023. The results indicate that the concentrations of most parameters in the rainy season were higher than those in the early-dry and dry seasons due to the non-point sources in agricultural areas. Notably, the analysis of pesticide residue in both the rainy and dry seasons revealed low levels of chlorpyrifos (ethyl), and deltamethrin was detected in the only rainy season. The results from the hierarchical cluster analysis and water quality index show that the water quality at Ben Mong, An Khe, and Ba River Bridges was classified as moderately to highly polluted. These areas should focus on regular water quality monitoring and appropriate pollution source management. PRACTITIONER POINTS: Agriculture activities strongly affected the water quality of the Highland Ba River of Vietnam. Chlorpyrifos and deltamethrin pesticides (0.0074-0.0218 μg/L) were detected in Ba River. Non-point pollution sources significantly influenced water quality in the Ba River. Variations in river water quality mainly depend on seasons and locations. Water quality index values in rainy seasons (26-88) are lower than that in dry season (37-92)., (© 2024 Water Environment Federation.)

Precise estimation of the longitudinal dispersion coefficient (LDC) is crucial for the accurate simulation of water quality management tools such as assimilation capacity. Previous research analyzed the LDC of natural streams in two general categories: ignoring or considering the river sinuosity (σ). Genetic programming (GP) is used in this study to investigate both mentioned categories by applying two experimental datasets from 56 to 24 different rivers worldwide. The first proposed LDC equation of this research (without σ) improves the amounts of statistical measures R 2 (Determination Coefficient), OI (Overall Index), NSE (Nash-Sutcliffe Efficiency), WI (Willmott's Index of Agreement), RMSE (Root Mean Square Error), and MAE (Mean Absolute Error) by 3.75%, 4.71%, 7.81%, 0.85%, 13.72%, and 0.68%, respectively, compared to the best values of these indicators in the previous investigations. Regarding the second category, relative and absolute sensitivity analyses are conducted, which reveal that σ is the most influential parameter in the accurate prediction of the LDC among all hydraulics and geometric parameters of the river. This part of the investigation presents four unique LDC equations that closely match the experimental results. Significant improvement of the most accurate presented LDC for statistical indices R 2 , OI, NSE, WI, RMSE, MAE, and accuracy percentage are obtained equal to 3.27%, 2.41%, 3.16%, 0.81%, 35.1%, 24.47%, 3.8%, respectively, in comparison with the best previous relations. Also, a new indicator for measuring the efficiency of mathematical equations called Mean Normalized Statistical Index (MNSI) is introduced and applied in different parts of this research. Finally, the assimilation capacity of the Kashafrud River is determined based on the analytical method of pollution propagation for three types of water demands utilizing the accurately presented LDC in 1993-2020. The average amount of river assimilation capacity using accurate LDC is simulated at 91.93 tons/day, much lower than the currently reported pollution entrance, which equals 540 tons/day., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate-to-severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation., (© 2023 Wiley Periodicals LLC.)

Purpose: This study aimed to establish variants in CBX1, encoding heterochromatin protein 1β (HP1β), as a cause of a novel syndromic neurodevelopmental disorder., Methods: Patients with CBX1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. To investigate the pathogenicity of identified variants, we performed in vitro cellular assays and neurobehavioral and cytological analyses of neuronal cells obtained from newly generated Cbx1 mutant mouse lines., Results: In 3 unrelated individuals with developmental delay, hypotonia, and autistic features, we identified heterozygous de novo variants in CBX1. The identified variants were in the chromodomain, the functional domain of HP1β, which mediates interactions with chromatin. Cbx1 chromodomain mutant mice displayed increased latency-to-peak response, suggesting the possibility of synaptic delay or myelination deficits. Cytological and chromatin immunoprecipitation experiments confirmed the reduction of mutant HP1β binding to heterochromatin, whereas HP1β interactome analysis demonstrated that the majority of HP1β-interacting proteins remained unchanged between the wild-type and mutant HP1β., Conclusion: These collective findings confirm the role of CBX1 in developmental disabilities through the disruption of HP1β chromatin binding during neurocognitive development. Because HP1β forms homodimers and heterodimers, mutant HP1β likely sequesters wild-type HP1β and other HP1 proteins, exerting dominant-negative effects., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

With the start of the COVID-19 pandemic and the resulting contact restrictions, conducting field trips to hydrological research basins became close to impossible. Hydrological field knowledge is an essential part of hydrological education and research. In order to impart this knowledge to students of hydrological engineering subjects in times or situations where on-site exploration is not possible, the VR4Hydro tool was developed. VR4Hydro is a virtual reality platform built from 360° panoramas that allows users to interactively explore the Gersprenz River basin in Germany. The following study seeks to investigate the applicability of performing virtual field trips in the context of hydrological education by evaluating user experience. Sixteen students of the subject engineering hydrology were asked to document their experiences with VR4Hydro using a qualitative approach by answering a series of multiple-choice questions as well as long-answer text questions. The analysis and discussion of the results showed that virtual excursions generally met with great interest among users. The majority rated the virtual tour as a valuable addition to traditional teaching methods. All students found the tool particularly appealing in cases where external circumstances did not allow for a real excursion. The findings of this study show that the application of virtual field trips (VFT) in hydrological engineering can be a valuable supplement to real field trips to improve the interest and learning outcome of students., (© The Author(s) 2022.)

The transport of nutrients into water bodies is one of the main causes of water eutrophication. It is therefore important to estimate the loads of nutrients. Discharge and nutrient concentrations are the fundamental elements to estimate the loads of nutrients, the latter can be affected by sampling strategies. As conducting sampling campaign and laboratory analysis are both expensive, it is necessary to find the best effective sampling strategy. The aim of this paper is to show how autocorrelation and standard statistical methods can be used to test the effects of different sampling strategies on the nutrient load estimation and to find the optimal sampling strategy. The data set in this study is from the 50 km² Kielstau catchment, a UNESCO demo site for ecohydrology in Northern Germany and consists of 14 years daily values of climate, hydrology, and water quality from 2006 to 2019. We calculated the autocorrelation (AC) of discharge (Q), precipitation, Nitrate-Nitrogen (NO 3 -N) and total Phosphorus (Ptot). Then we tested the effects of sampling intervals from 7 to 56 days (1-8 weeks) on the nutrient loads. Our results showed a high AC of Q and NO 3 -N for a long period, but the AC of Ptot and precipitation decreased very fast. An increase of the sampling interval (less frequent) increased the error of estimating the concentrations and loads. Consequently, we recommend that (1) the optimal sampling strategy for nutrient load estimation in an agriculture-dominant catchment should be continuously monitoring discharge combined with periodic grabbed samples; (2) the sampling frequency for NO 3 -N is suggested to be monthly (every 28 days) and for Ptot weekly (every 7 days). The information will help those tasked with catchment monitoring to design appropriate sampling strategy to ensure adequate data for nutrients load estimation in lowland rivers., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022. Published by Elsevier Ltd.)

ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines for the interpretation of sequence variants. However, familial loss-of-function variants can also occur and can be challenging to interpret. Such variants may be pathogenic with variable expression, causing only a mild phenotype in a parent. Alternatively, since some regions of the ARID1B gene seem to be lacking pathogenic variants, loss-of-function variants in those regions may not lead to ARID1B haploinsufficiency and may therefore be benign. We describe 12 families with potential loss-of-function variants, which were either familial or with unknown inheritance and were in regions where pathogenic variants have not been described or are otherwise challenging to interpret. We performed detailed clinical and DNA methylation studies, which allowed us to confidently classify most variants. In five families we observed transmission of pathogenic variants, confirming their highly variable expression. Our findings provide further evidence for an alternative translational start site and we suggest updates for the ACMG guidelines for the interpretation of sequence variants to incorporate DNA methylation studies and facial analyses.

The ability to replace organs and tissues on demand could save or improve millions of lives each year globally and create public health benefits on par with curing cancer. Unmet needs for organ and tissue preservation place enormous logistical limitations on transplantation, regenerative medicine, drug discovery, and a variety of rapidly advancing areas spanning biomedicine. A growing coalition of researchers, clinicians, advocacy organizations, academic institutions, and other stakeholders has assembled to address the unmet need for preservation advances, outlining remaining challenges and identifying areas of underinvestment and untapped opportunities. Meanwhile, recent discoveries provide proofs of principle for breakthroughs in a family of research areas surrounding biopreservation. These developments indicate that a new paradigm, integrating multiple existing preservation approaches and new technologies that have flourished in the past 10 years, could transform preservation research. Capitalizing on these opportunities will require engagement across many research areas and stakeholder groups. A coordinated effort is needed to expedite preservation advances that can transform several areas of medicine and medical science.

The construction of the Three Gorges Dam in China and the subsequent impoundment of the Yangtze River have induced a major land use change in the Three Gorges Reservoir Region, which fosters increased inputs of sediment and nutrients from diffuse sources into the water bodies. Several government programs have been implemented to mitigate high sediment and nutrient loads to the reservoir. However, institutional weaknesses and a focus on economic development have so far widely counteracted the effectiveness of these programs. In this study, the eco-hydrological model soil and water assessment tool is used to assess the effects of changes in fertilizer amounts and the conditions of bench terraces in the Xiangxi catchment in the Three Gorges Reservoir Region on diffuse matter releases. With this, the study aims at identifying efficient management measures, which should have priority. The results show that a reduction of fertilizer amounts cannot reduce phosphorus loads considerably without inhibiting crop productivity. The condition of terraces in the catchment has a strong impact on soil erosion and phosphorus releases from agricultural areas. Hence, if economically feasible, programmes focusing on the construction and maintenance of terraces in the region should be implemented. Additionally, intercropping on corn fields as well as more efficient fertilization schemes for agricultural land were identified as potential instruments to reduce diffuse matter loads further. While the study was carried out in the Three Gorges Region, its findings may also beneficial for the reduction of water pollution in other mountainous areas with strong agricultural use.