Abstract Objective Variations of sex characteristics (VSC) are atypical genetic, hormonal, gonadal and anatomical sex traits that require holistic medical management. The Chicago Consensus statement 2006 introduced the requirement that multidisciplinary teams organise the transition of care from pediatric to adult services. Yet, the evidence that the transitional care is in place is scarce. The aim of this paper is to examine the implementation of transition of care for people with VSC. Method Seven focus groups were conducted with health care professionals and peer support groups in care teams in Central, Northern and Western Europe. The data from the focus groups were examined using reflexive thematic analysis. Results The participants in the study stated that the transition of care has been implemented in the last two decades. The quality of care depends on available resources and variation of sex characteristics. However, there are significant hurdles to adequate transition of care as there is lack of time and resources. Lack of adult care providers and psychosocial support leaves young adults and adults with VSC navigating the health care system often alone. Conclusion The outcome of the study shows that the transition of care is organized through the department of pediatric endocrinology. The quality of care varies due to resources and variation. Lack of adult specialists and psychosocial support represent the biggest obstacle for young adults and adults to navigate the healthcare system and for the improvement in provision of healthcare to adults, especially psychosocial support.

Abstract: Amino acids are widely present as intermediates in marine nitrogen cycle. However, the information of amino acid distribution in deep-sea seawater, especially in abyss and hadal zone, is very limited. In the present study, we determined the concentrations of dissolved free amino acids (DFAA), dissolved combined amino acids (DCAA) and total hydrolysable amino acids (THAA) in the seawater from sea surface to hadal zone of the Yap Trench. Their occurrence, vertical variations and degradation behavior in the Yap Trench were investigated. The results showed that concentrations of ΣDFAA, ΣDCAA and ΣTHAA ranged from 0.09 to 1.78, 0.99 to 17.69 and 1.18 to 18.01 μmol/L, respectively, in the study area. In the seawater samples from the trench, Glycine (Gly) was the predominant DFAA, while the DCAA and THAA was dominated by threonine (Thr). Concentration of chlorophyll a (chl a) was not significantly correlated with any amino acids (DFAA, DCAA and THAA) in the euphotic layer. Mean concentrations for DFAA, DCAA and THAA in different water layers were in the order of: mesopelagic > euphotic > abyssal > bathyal. The concentrations of DCAA and THAA in sediment-seawater interface were higher than those from the euphotic to abyssal layer. Stations near the Yap Islands have the older organic matter (OM), while the organic matter in stations near the Yap Trench axis was relatively fresh above 1000-m depth. Degradation behavior of OM in the mesopelagic and abyssal layer are affected by transport of dissolved organic matter with water current. The organic matter in the sediment-seawater interface are older, especially on the west side of the trench. This is a survey of amino acids (DFAA, DCAA and THAA) in the Yap Trench, which provides information on the vertical variations and degradation behavior of amino acids from sea surface to hadal environment, and will be helpful to understand marine organic nitrogen cycle.

The statistical analysis of impact of the top 50 solar flares of X-class (1997-2023) on the global seismic activity, as well as on the earthquake preparation zones located in illuminated part of the globe and in the area of 5000 km radius around the subsolar point was carried out. It is shown by a method of epoch superposition that for all cases the increase of seismicity is observed, especially in the region around the subsolar point (up to 38%) during 10 days after the solar flare in comparison with preceding 10 days. The case study of aftershock sequence of strong M=9.1 earthquake (Su-matra-Andaman Islands, 26.12.2004) after the solar flare of X7.2 class (20.01.2005) demonstrated that the number of aftershocks with magnitude M≥2.5 increases more than 20 times after the solar flare with a delay of 7 days. For the case of the Darfield earthquake (M=7.1, 04.09.2010, New Zealand) it was shown that strong solar flares of class X and M probably triggered two strong aftershocks (M>6) with the same delay of 6 days on the Port Hills fault, which is the most sensitive to external electromagnetic impact from point of view of the fault electrical conductivity and orientation. Based on the obtained results the possible application of natural electromagnetic triggering of earthquakes is discussed for a short-term earthquake prediction using confidently recorded strong external electromagnetic triggering impacts on the specific earthquake preparation zones, as well as ionospheric perturbations due to aerosol emission from the earthquake sources recorded by satellites.

Facial expression recognition is crucial for understanding human emotions and nonverbal communication. With the growing prevalence of facial recognition technology and its various applications, accurate and efficient facial expression recognition has become a significant research area. However, most previous methods have focused on designing unique deep-learning architectures while overlooking the loss function. This study presents a new loss function that allows simultaneous consideration of inter- and intra-class variations to be applied to CNN architecture for facial expression recognition. More concretely, this loss function reduces the intra-class variations by minimizing the distances between the deep features and their corresponding class centers. It also increases the inter-class variations by maximizing the distances between deep features and their non-corresponding class centers, and the distances between different class centers. Numerical results from several benchmark facial expression databases, such as Cohn-Kanade Plus, Oulu-Casia, MMI, and FER2013, are provided to prove the capability of the proposed loss function compared with existing ones.

In this paper we report the results obtained in experiment PHELEX during 208 days of measurements on the search for dark photons with a multi-cathode counter with an iron cathode that revealed in 4 runs with a confidence level better than 5 σ a systematic excess of single electron events in the time interval from 8-00 till 12-00 sidereal time. The fact that we see this effect in stellar frame and do not in solar frame can be considered as evidence that the observed effect is due to dark photons.

Atmospheric propagational phase variations are the dominant source of error for InSAR timeseries analysis, generally exceeding uncertainties from poor SNR or signal correlation. The spatial properties of these errors have been well studied, but their temporal dependence and correction have received much less attention to date. We present here an evaluation of the magnitude of tropospheric artifacts in derived time series after compensation using an algorithm that requires only the InSAR data themselves. The level of artifact reduction equals or exceeds that from many weather model based methods, while avoiding the need to access fine-scale atmosphere parameters globally at all times. Our method consists of identifying all points in an InSAR stack with consistently high correlation, and computing, then removing, a fit of the phase at each of these points with respect to elevation. Comparison with GPS truth yields a reduction of 3, from an rms misfit of 5-6 cm to ~2 cm over time. This algorithm can be readily incorporated into InSAR processing flows without need for outside information.

India is one of the large sources of the anthropogenic pollutants and their increasing emission due to the recent economic growth in India. In this study we analyzed the annual and seasonal behaviors of ozone (O₃) gas using satellite remote sensing dataset from the sources Ozone Monitoring Instrument (OMI) over India region from 2006-2015. The study focuses on the seasonal behaviors of O₃ gas i.e., monthly, seasonal, annual mean variations of trace gas and also trend analysis of O₃ gas and comparison of the seasonal behavior of the ozone gas by trend analysis were assessed. In this study we also taken eleven cities to show the increment and decrement in four seasons of O₃ gas by taking 2006 as a base year and investigate the behaviors of gases during (2007-2015) years. Higher concentrations of O₃ south-to-north gradient, indicating the variations due to the impact of emissions and local meteorology. Ozone concentrations were higher during the warmer months. However, in winter season lowest concentration of O₃ seen due to the less amount of heat and due to cold days and ozone holes in the stratosphere. Instead, total O₃ concentrations rises over Delhi, Lucknow and Kolkata due to large population density, high traffic emission, highly polluted air and larger industrial activities.

There is a global rise in the emergence of infectious diseases and the enigmatic coronavirus disease 2019 (COVID-19) being the most recent one. It is ravaging the world with little understanding of its etiology and factors affecting its transmission dynamics. Meanwhile, seasonal variations in weather are major factors impacting infectious disease transmission patterns. Developing countries are likely to be most affected by weather changes, largely because of challenges such as inadequate drainage and sewage management systems, healthcare facilities, education, and funding to efficiently mitigate infectious diseases. In Nigeria, weather conditions alternate between rainy and dry seasons. Conditions such as rainfall, flood, and humidity have been reported to influence infectious disease transmission. Thus, understanding the impact of weather changes in transmission dynamics and immune response to COVID 19 will help in preventive measures and policy making to curtail its spread most especially in Nigeria as the rainy season fully sets in.

Climate change is an issue that is the order of the day, and among the many consequences it has on the environment one is its influence on the amount and frequency of rainfall on our planet, since our water supply depends on them. Therefore, in order to quantify these effects, a rainfall analysis has been carried out using data collected in Bilbao over the last 150 years. Thanks to this, it has been possible to observe that, although the total annual amount seems to suffer a slight decrease, hardly quantifiable with certainty, it is true that the intra-annual patterns are more concentrated at certain times of the year, with greater imbalances between one month and another than in previous years. However, taking into account the capacity of the reservoirs that supply the Greater Bilbao area, it can be concluded that this does not pose any problem for Bilbao's supply, at least at present.

This comprehensive review scrutinizes tissue culture and micropropagation methodologies in geophytes, focusing on bulbous plants. The examination encompasses key stages, including somatic embryogenesis, bulb growth, dormancy breaking, and planting. Studies underscore the pivotal role of plant growth regulators in plant regeneration and bulb growth. Bioreactor systems for healthy plant regeneration, rooting methods, acclimatization strategies, and considerations for ex vitro survival are elucidated. The review also delves into somaclonal variation dynamics and acknowledges the burgeoning field of genetic editing, particularly CRISPR studies, as a promising avenue for enhancing valuable compound content in geophytes. The conclusion emphasizes the necessity of a multifaceted approach integrating biochemistry, physiology, and molecular biology to address existing challenges and propel tissue culture protocols for diverse geophyte species.

Gravitational data are the only ones able to provide otherwise hidden details of what happens below the surface. In this paper, several models are implemented to constrain them with the outer structure of Mars: firstly a Bouguer inversion to reduce gravitational residual, obtaining a crustal depth in the range 23.19-94.56 km. Successively, it was considered an Airy model providing for local buoyancy. Given that its configuration does not permit to evaluate properly the different flexural responses of the lithosphere, and that it overcompensates for the crust of the highest volcanic conformations, a flexural response function was used to filter this model. It uses the lithosphere elastic thickness T_e to scale especially the short wavelengths, correcting for local phenomena. Finally, an optimization was implemented to find the best-fitting values for T_e, using both an infinite plate and a thin shell approximation, and then obtain a global map for crustal density and thickness. Even if the Martian dichotomy is basically confirmed by all the models, along with the well-known anomalies localized at the major basin craters and volcanic Paterae, the Bouguer model supplies the best representation of the state-of-the-art knowledge about the outer layers of Mars and with further improvements can represent a future benchmark for the research on the Red Planet.

Evidence-based healthcare integrates the best research evidence with clinical expertise in order to make decisions based on the best practices available. In this context, the task of collecting all the relevant information, a recall oriented task, in order to take the right decision within a reasonable time frame has become an important issue. In this paper, we investigate the problem of building an effective Consumer Health Search (CHS) systems that use query variations to achieve high recall and fulfill the information needs of health consumers. In particular, we study an intent-aware gain metric used to estimate the amount of missing information and make a prediction about the achievable recall for each query reformulation during a search session. We evaluate and propose alternative formulations of this metric using standard test collections of the CLEF 2018 eHealth Evaluation Lab CHS.

Development and deployment of wheat varieties with high yields, wide adaptability, good quality, multiple-resistance to abiotic and biotic stresses, and efficient response to fertilizers have greatly contributed to global wheat sustainable production. The genomic composition of key commercial wheat variety can help understand the genetic basis underlying the development of new variety and permit increased breeding efficiency. In this study, we report the chromosomal and genomic compositions of BN207, presently the leading wheat variety in the southern region of Huang-Huai River Valley, the most important wheat producing area in China through an integrated analysis using fluorescent in situ hybridization (FISH) and wheat 15 K SNP array. Our results showed that BN207 inherited 55.3% and 40.7% of its genome from its male parent BN64 and female parent ZM16, respectively, and generating 64 novel or recombined loci. Besides, we detected nine chromosomal variations in Bn207 and its parents and ten sister lines, and physically mapped two variations, the pericentric inversion of chromosome 6B, and large tandem repeat sequence block at the long arm of 5A, both had positive effects on agronomic traits, by integration of FISH and SNP loci recombination analyses. These results will provide a reference for breeding of high yield wheat varieties as BN207, and the application of founder parents BN64 and ZM16, which are being utilized frequently in wheat breeding programs in Henan Province and surrounding areas.

The aim of this study was to examine the seasonal variations in relevant indices of physical performance in female soccer players. Twenty-seven female soccer players were assessed at week 2 of the season (pre-season, PS), week 7 (end of pre-season, EP), week 24 (half-season, HS), and week 38 (end of season, ES). Testing sessions consisted of: 1) vertical countermovement jump (CMJ); 2) 20-m running sprint (T20); 3) 25-m side-step cutting maneuver test (V-CUT); and 4) progressive loading test in the full-squat exercise (V1-LOAD). Participants followed their normal soccer training, which consisted of three weekly training sessions and an official match, without any type of intervention. No significant time effects were observed for CMJ height (P = 0.29) and T20 (P = 0.11) along the season. Significant time effects were found for V-CUT (P = 0.004) and V1-LOAD (P = 0.001). V-CUT performance significantly improved from HS to ES (P = 0.001). Significant increases were observed for V1-LOAD throughout the season: PS-HS (P = 0.009), PS-ES (P < 0.001); EP-ES (P < 0.001); HS-ES (P = 0.009). In conclusion, female adapted soccer training may be effective for increasing muscle strength and change of direction ability. The high volume of endurance-type training typically accumulated throughout the season may prevent any sprint and jump improvements.

Quantitative evaluation of the musical timbre and its variations is important for the analysis of audio recordings and computer-aided music composition. Using the FFT acoustic descriptors and their representation in an abstract timbral space, variations of a sample of monophonic sounds of chordophones (violin, cello) and aerophones (trumpet, transverse flute, and clarinet) sounds are analyzed. It is concluded that the FFT acoustic descriptors allow us to distinguish the timbral variations of the musical dynamics, including crescendo and vibrato. Furthermore, using the Random Forest algorithm, it is shown that the FFT-Acoustic provides a statistically significant classification to distinguish musical instruments, family of instruments, and dynamics. We observed a better behavior for the FFT-Acoustic descriptors when classifying pitch compared to some timbral features of Librosa.

In this paper, a robust nonlinear dynamic controller is designed for a wind turbine with a permanent magnet synchronous generator. The wind turbine is subject to variations in all the parameters appearing in its mathematical model. Furthermore, the wind velocity is considered unavailable for direct measurement. This situation is of particular interest in practical applications, where only the nominal parameter values are known, and accurate wind velocity measurement is challenging due to perturbations caused by the turbine itself, even with appropriate sensors. The problem addressed in this work involves tracking the reference angular velocity corresponding to the wind velocity. To achieve accurate tracking, appropriate compensation of the perturbation terms resulting from parameter uncertainties and wind estimation errors is required. To address this problem, an estimator of the wind velocity is utilized, along with high–order sliding mode parameter estimators, to ensure high–performance operation of the turbine.

The purpose of this study was to identify the factors that affect the mortality among adult HIV/TB co-infected patients and to see the nutritional difference among mortality in residence level. Retrospective cohort studies of 417 patients which fulfill our criteria were included. Multilevel logistic regression models were used. MLwiN and SPSS software are used to estimate the parameter. The variance of the random factor in the empty model was significant which indicates that there were residential differences in TB-HIV co-infected mortality and it shows multilevel analysis was an appropriate approach for further analysis. The prevalence of HIV/TB co-infected patients' death was 12.9% in study time. Functional status, age of patients, WHO clinical stages, nutritional status, CD4 counts, regimen, and BMI were found to be significant determinants of HIV/TB co-infected mortality. In our study, patients with the bedridden category of functional status, the fourth stages of WHO clinical stages (stage IV), patients with higher age, patients whose treatments were second-line regimen and low CD4 cell counts were more at risk of death. The study also revealed that; poor nutritional status increased the risk of mortality among HIV/TB co-infected patients and it varies among the residence of the patients (rural area were more at risk).

In this study, a new approach for estimating volume variations of lakes and reservoirs using water levels from satellite altimetry and surface areas from optical imagery is presented. Both input data sets, namely water level time series and surface area time series, are provided by DGFI-TUM‘s Database of Hydrological Time Series of Inland Waters (DAHITI). The approach is divided into three parts. In the first part, a hypsometry model based on the new modified Strahler approach is computed by combining water levels and surface areas. The hypsometry model describes the dependency between water levels and surface areas of lakes and reservoirs. In the second part, a bathymetry between minimum and maximum surface area is computed. For this purpose, DAHITI land-water masks are stacked using water levels derived from the hypsometry model. Finally, water levels and surface areas are intersected with the bathymetry to estimate a time series of volume variations in relation to the minimum observed surface area. The results are validated with volume time series derived from in-situ water levels in combination with bathymetric surveys. In this study, 28 lakes and reservoirs located in Texas are investigated. The absolute volumes of the investigated lakes and reservoirs vary between 0.099 km³ and 6.448 km³. The correlation coefficients of the resulting volume variation time series with validation data vary between 0.80 and 0.99. Overall, the relative errors with respect to volume variations vary between 2.8% and 14.9% with an average of 8.3% for all 28 investigated lakes and reservoirs. When comparing the resulting RMSE with absolute volumes, the absolute errors vary between 1.5% and 6.4% with an average of 3.1%. This study shows that volume variations can be calculated with a high accuracy which depends essentially on the quality of the used water levels and surface areas. In addition, this study provides a hypsometry model, high-resolution bathymetry and water level time series derived from surface areas based on the hypsometry model. All data sets are publicly available on the Database of Hydrological Time Series of Inland Waters (DAHITI, https://dahiti.dgfi.tum.de).

Admission and discharge diagnoses of in-hospital patients are often in discord. Incorrect admission diagnoses are related to increased cost of care and patient safety. Additionally, due to the seasonality of many conditions, this discord may vary across the year. In this paper, we used medical claims data to develop a methodological framework that examines these differences, for Medicare beneficiaries. We provide examples for pneumonia, a condition with seasonal implications, and aneurysm, where early detection can be life-saving. Following a Bayesian approach, our work quantifies and visualizes with time series plots the degree that any clinical condition is correctly diagnosed upon admission. We examined differences in weekly intervals, during a calendar year. The mean length of stay and hospital charges were furthermore compared between matching and non-matching {admission, discharge Dx} pairs, and 95% confidence intervals of the difference of means were estimated. We applied Statistical Process Control methods and then visualized differences, for the hospital charges and the length of stay, per week, with time series plots. Our methodology and the visualizations underline the importance of a rigorous and non-delayed diagnostic process upon admission since there are significant implications in terms of hospital outcomes and cost of care.

In this study, based on frost formation data provided by Harbin Meteorological Bureau, combined with geographical factors, temperature and population density, linear fitting, Mann-Kendall mutation test, pettitt method and sliding T test were used to analyze the spatio-temporal variation characteristics of frost date in Harbin Municipality and the effects of geographical factors, temperature and population density on frost regularity. The results showed that (1) The earliest year of FSD appeared was 1966 and 1967, on the 255th, i.e., August 18th, and the latest was 283 days, i.e., October 10th, 2006. The earliest year in which the FED appeared was April 24th of 2015, the 114th day of that year, and the latest was April 21st of 1974, the 141st day of that year. The year with the most frost was 2012, with 161 days, and the year with the shortest was 1966, with 123 days. (2) Throughout the study period, FSD increased by 7.8 days at a rate of -1.27d/10a, FED increased by 10.9 days at a rate of 1.77d/10a, and FFS increased by 18.9 days at a rate of 3.05d/10a. The tendency rate of FSD and FFS at each site in Harbin showed an increasing trend. For FED, the tendency rate of some sites showed an increasing trend. In general, FSD showed a delayed trend, FED showed an advanced trend, and FFS showed a prolonged trend. Using the method of unary linear regression, FSD of each site showed an increasing trend, FFS showed an increasing trend, and FED showed a decreasing trend in general. (3) Throughout the study period, FSD was mutated in 2000, and the arrival time of it in the study area averaged the 265th, i.e., September 22nd, and after that, the arrival time of it changed to the 272nd, i.e., September 29th of that year. FED was mutated in 2006, and the arrival time of it in the study area averaged 128th, i.e., April 8th. After the mutation, the arrival time of FED changed to 121st, i.e., April 1st of that year. FFS was mutated in 2004. Before the mutation, with an average arrival time of 137days in the study area .But after that, the time changed to 150 days.(4) FSD and FFS in Harbin Municipality were negatively correlated with latitude and positively correlated with temperature, while FED was positively correlated with latitude and negatively correlated with temperature. The FSD, FED and FFS in the central part of Harbin Municipality were the earliest, the latest and the longest, respectively, so the Pearson correlation coefficient method and the influence of longitude could not be reflected in the multiple regression. Several factors were judged by grey correlation analysis method. The longitude is significantly related to FSD, FED and FFS.

Haemodynamic indices are widely used in clinical practice for deciding on a particular type of treatment. Low quality of the CT data and tachycardia complicate interpretation of the measured or simulated values. In this work, we present a novel approach for evaluating resistances in terminal coronary arteries. Using 14 measurements from 10 patients, we show that this algorithm retains the accuracy of 1D haemodynamic simulations in less detailed (truncated) geometric models of coronary networks. We also apply the variable systole fraction model to study the effect of elevated heart rate on the values of FFR, CFR and iFR. We conclude that tachycardia may produce both overestimation or underestimation of coronary stenosis significance.

Air pollution is a leading cause of death in the United States, and is associated with adverse health outcomes, including increased vulnerability to coronavirus disease 2019 (COVID-19). The AirBeam2 was used to measure particulate matter with a diameter of 2.5 micrometers or smaller (PM2.5), to investigate differences between indoor and ambient levels at seven private homes in New York during and after the COVID-19 lockdown. Measurements taken in 2020 winter, spring and fall and in fall 2022 showed that 90% of the time, indoor PM2.5 levels exceeded outdoor levels both during and after the COVID-19 lockdown, p = 0.03, and exceeded safety levels. Higher indoor PM2.5 levels attributed to little or no ventilation from cooking and smoke in the kitchen and basements, were significantly greater in fall than in winter. Higher ambient PM2.5 levels were attributed to vehicular traffic at a street-facing sampling site. PM2.5 sources identified in this study may help in devising control strategies to improve indoor air quality (IAQ), and consequently alleviate respiratory health effects. These findings may be used as a basis for in-house modifications including natural ventilation and use of air purifiers to reduce exposures, mitigate future risks, and prevent potential harm to vulnerable residents.

Extensive genome structure variation, such as copy number variations (CNVs) and presence/absence variations, is the basis for the remarkable maize genetic diversity; however, the effect of CNVs on maize herbivory defense remains largely underexplored. Here, we report that the naturally occurring duplication of the maize 9-lipoxygenase gene, ZmLOX5, leads to increased resistance of maize to herbivory by fall armyworms (FAW). Previously, we showed that ZmLOX5-derived oxylipins are required for defense against chewing insect herbivores and identified several inbred lines, including Yu796, that contained duplicated CNVs of ZmLOX5, referred to as Yu796-2×LOX5. To test whether introgression of the Yu796-2×LOX5 locus into the herbivore-susceptible B73 background that contains a single ZmLOX5 gene is a feasible approach to increase resistance, we generated a series of near-isogenic lines that contained either 2, 1 or 0 copies of the Yu796-2×LOX5 locus in the B73 background by six back crosses (BC6). Droplet digital PCR (ddPCR) confirmed the successful introgression of the Yu796-2×LOX5 locus in B73. The resulting B73-2×LOX5 inbred line displayed increased resistance against FAW associated with increased expression of ZmLOX5, increased wound-induced production of its primary oxylipin product, the α-ketol, 9-hydroxy-10-oxo-12(Z),15(Z)-octadecadienoic acid (9,10-KODA), and the downstream defense hormones regulated by this molecule, 12-oxo-phytodienoic acid (12-OPDA) and abscisic acid (ABA). Surprisingly, wound-induced JA-Ile production was not increased in B73-2×LOX5, resulting from the increased JA catabolism. Furthermore, B73-2×LOX5 displayed enhanced drought tolerance likely due to increased ABA and 12-OPDA content. Taken together, this study revealed that the duplicated CNV of ZmLOX5 quantitively contributes to maize antiherbivore defense and presents proof-of-concept evidence that the introgression of naturally occurring duplicated CNVs of a defensive gene into the productive, but susceptible, crop varieties is a feasible breeding approach for enhancing plant resistance to herbivory and tolerance to abiotic stress.

Repetitive nature of the ribosomal DNA (rDNA) gene makes the sequencing of hundreds copies of mammalian 45S rDNA (about 45-kb per copy) extremely difficult and its assembly is often excluded. Increasing evidence shows that 45S rDNA variations (copy number or single nucleotide), structural ribosomal RNA (rRNA) transcript variants, and non-structural rRNA transcripts (sense and anti-sense long noncoding rRNAs that include promoter rRNAs, and rRNA-derived fragments) play essential roles in mammalian development and diseases. Complete pictures of the hundreds copies of 45S rDNA and their rRNA transcripts require further innovation in sequencing techniques that include bioinformatics. The advancements in mammalian rDNA and rRNA sequencings and the discoveries of novel functions of the rDNA variants and rRNA transcripts are discussed here.

Understanding the genetic architecture of a disease is crucial for development of valid diagnostic and therapeutic interventions. The analysis of genomic variations associated with pathological conditions is the starting point for uncovering disease-causing pathways (candidate processes). However, the complexity of intergenic and genetic-environmental interactions hinders the identification of pathogenic values of genomic changes. Furthermore, heredity, epigenetics and somatic mosaicism make the interpretation of genomic data even more sophisticated. To succeed, a variety of bioinformatic techniques are applied. Here, reviewing own and literature data, knowledge-based prioritization of genomic variations is described. Theoretical basis of the knowledge-based prioritization is given with a special regard to gene ontology, heuristics, hermeneutics (genomic hermeneutics) and analytics. Practical and methodological issues of prioritization using ontology- or pathway-based systems analysis are considered in the light of optimistic and realistic scenarios of cumulative phenotypic effects of the variome (the whole set of genomic variations in an individual or specific set of genomic variations for a phenotypic outcome). In the present communication, copy number variants (CNVs) in children with neurodevelopmental diseases are used as a practical foundation for the prioritization, inasmuch as these genome variations are systematically overlooked in the so-called NGS era. Nonetheless, it is highly likely that the prioritization is applicable to almost all types of genomic variations (e.g. chromosome abnormalities, gene mutations, functional synonymous variants etc.). The present methodology seems to be a valuable addition to current biomedical science widening the opportunities for medical genomics and genetics.

Seasonal changes and varying degree of corneal hydration has been linked to excimer laser corneal ablation rates. Use of PMMA as calibration material in refractive lasers is well established. However, PMMA ablation may be equally affected by seasonal variations in temperature and humidity, intern affecting the calibration process. Aim of this work is to analyze the effect of seasonal changes in PMMA Performance using SCHWIND AMARIS laser system. PET and PMMA ablations conducted in climate-controlled environment with 826 consecutive AMARIS systems manufactured over 6 years were retrospectively analyzed. Lasers were stratified depending on seasons and months of the year. Metrics like Single laser pulse fluence, nominal number of laser pulses, mean performance, standard deviation, and technical performance of system were compared to global average values. Cyclic winter-summer variation was confirmed with seasons winter and summer showing statistically significant variations with respect to global values. Metric technical performance showed deeper PMMA ablation performance in summertime, with maximum seasonal deviation of 6%. Results were consistently confirmed in seasonal as well as monthly analyses. These findings could help minimize variance among laser systems by implementing compensation factors depending on seasons such that laser systems installed worldwide follow the same trend line of variation.

The study of man-land relationship in urbanization process is the current frontier and focus of international research. How to balance urban development and ecosystem conservation in the Upper Yellow River is a key issue for sustainable development in China. In this study, we evaluated the Lanzhou-Xining urban agglomeration （LXUA）by constructing a multi-dimensional assessment system for urbanization quality and ecosystem services. The efficacy function model, entropy weight method, and Integrated Valuation of Ecosystem Services and Tradeoffs (InVEST) model were used to quantitatively assess the subsystems' state of development. Then, the coupling model (CD) and the coordination degree（CCD）model were used to explore the coupling coordination relationship and spatial-temporal change characteristics of the composite system. The findings indicate that: 1）In 2020, the quality of urbanization in LXUA showed the pattern of "double core". The development of urban centers in each city is insufficient, and the proportion of counties with low-level is too high. 2）Integrated ecosystem services showed an increasing distribution pattern from the northeast to the southwest. Water provision services, soil conservation services and carbon fixation services all showed growth trends. 3）Each county’s composite system was in the run-in stage or highly coupled stage. The subsystems were closely related to each other. 4）The CCD was decreased by 6% between two decades. The number of counties on the verge of disorder was the highest. About 80% of the counties are relatively lagging behind in ecosystem services.

One of the major challenges in the post-genomic era is elucidating the genetic basis of human diseases. In recent years, studies have shown that polygenic risk scores (PRS), based on aggregated information from millions of variants across the human genome, can estimate individual risk for common diseases. In practice, the current medical practice still predominantly relies on physiological and clinical indicators to assess personal disease risk. For example, caregivers mark individuals with high body mass index (BMI) as having an increased risk to develop type 2 diabetes (T2D). An important question is whether combining PRS with clinical metrics can increase the power of disease prediction in particular from early life. In this work we examined this question, focusing on T2D. We show that an integrated approach combining adult BMI and PRS achieves considerably better prediction than each of the measures on unrelated Caucasians in the UK Biobank (UKB, n=290,584). Likewise, integrating PRS with self-reports on birth weight (n=172,239) and comparative body size at age ten (n=287,203) also substantially enhance prediction as compared to each of its components. While the integration of PRS with BMI achieved better results as compared to the other measurements, the latter are early-life measurements that can be integrated already at childhood, to allow preemptive intervention for those at high risk to develop T2D. Our integrated approach can be easily generalized to other diseases, with the relevant early-life measurements.

Next Generation Sequencing (NGS), now widely used in the clinical setting, offers an efficient and comprehensive molecular approach for patients with Familial hypercholesterolemia (FH). Although the dominant form of disease is mostly due to low-density lipoprotein receptor (LDLR) small-scale pathogenic variants, approximately 10% of molecularly defined FH cases are due to Copy Number Variations (CNVs). Here, we report a novel large deletion of the LDLR gene involving exons 4–18, identified by bioinformatic analysis of NGS data in an Italian family. A long PCR strategy was employed for breakpoint region analysis where an insertion of 6 nucleotides (TTCACT) was found. Two Alu sequences, identified within intron 3 and exon 18, could underlie the identified rearrangement by a Nonallelic Homologous Recombination (NAHR) mechanism. NGS proves to be a powerful tool used to precisely identify CNVs, in addition to small-scale variants in FH-related genes. At this purpose, the use and implementation of this cost-effective, efficient molecular approach meets the clinical need for personalized diagnosis in FH cases.

Mechanisms for somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN) are incompletely understood. During SNP-array molecular karyotyping and bioinformatic analyses of children with neurodevelopmental disorders and congenital malformations (n=612), we observed colocalizaion of regular chromosomal imbalances or copy number variations (CNV) with mosaic ones (n=47 or 7.7%). Analyzing molecular karyotyping data and pathways affected by CNV burdens, we proposed a mechanism for SCM/CIN, which had been designated as “chromohelkosis” (from the Greek chromosome ulceration/open wound). Briefly, structural chromosomal imbalances are likely to cause local instability (“wreckage”) at the breakpoints, which results either to partial/whole chromosome loss (e.g. aneuploidy) or elongation of duplicated regions. Accordingly, a function for classical/alpha satellite DNA (protection from the wreckage towards the centromere) has been hypothesized. Since SCM and CIN are ubiquitously involved in development, homeostasis and disease (e.g. prenatal development, cancer, brain diseases, aging), we have metaphorically (ironically) designate the system explaining chromohelkosis contribution to SCM/CIN as the cytogenomic “theory of everything” like the homonymous theory in physics inasmuch as it might explain numerous phenomena in chromosome biology. Recognizing possible empirical and theoretical weaknesses of this “theory”, we nevertheless believe that studies of chromohelkosis-like processes are required to understand structural variability and flexibility of the genome.

In this paper, we focus on variational Bayesian learning deterministic optimization methods for inference in biparametric exponential models where the parameters follow semiparametric regression structures. This combination of data models and algorithms contributes to solving real-world problems and reduces the computation time. This allows both the rapid exploration of many data models and the accurate estimation of the mean and variance functions through the connection between generalized linear models and graph theory. A simulation study was carried out to assess the performance of the deterministic approximation. Finally, herein, we present an application using macroeconomic data to emphasize the benefits of the proposed approach.

The accurate virus detection, strain discrimination, and source attribution of contaminated food items remains a persistent challenge because of the high mutation rates anticipated to occur in foodborne RNA viruses, such as Hepatitis A virus (HAV). This has led to predictions of the existence of more than one sequence variant between the hosts (inter-host) or within an individual host (intra-host). However, there have been no reports of intra-host variants from an infected single individual, and little is known about the accuracy of the single nucleotide variations (SNVs) calling with various methods. In this study, the presence and identity of viral SNVs, either between HAV clinical specimens or among a series of samples derived from HAV clone1-infected FRhK4 cells, were determined following analyses of nucleotide sequences generated using next-generation sequencing (NGS) and pyrosequencing methods. The results demonstrate the co-existence of inter- and intra-host variants both in the clinical specimens and the cultured samples. The discovery and confirmation of multi-viral RNAs in an infected individual is dependent on the strain discrimination at the SNV level, and critical for successful outbreak traceback and source attribution investigations. The detection of SNVs in a time series of HAV infected FRhK4 cells improved our understanding on the mutation dynamics determined probably by different selective pressures. Additionally, it demonstrated that NGS could potentially provide a valuable investigative approach toward SNV detection and identification for other RNA viruses.

Surface defect detection is one of the most widely used research areas in the field of image processing and machine vision. Detection of surface defects is used in visual inspection systems and medical image analysis. In this manuscript, an innovative method for detecting surface defects based on energy changes in co-occurrence matrices is presented in several directions. The method presented in this manuscript includes two stages of learning and testing. In the learning phase, to extract texture features, the gray level co-occurrence matrix operator is applied on the healthy image of the desired level. Then the energy value of the output matrix is ​​calculated. In the following, changes in the amount of energy are considered as statistical characteristics that are a good representative of the image of a healthy surface. Finally, with its help, a suitable threshold for the health of the images is obtained. Then, in the test phase, with the help of the calculated quorum, the defective windows that have suffered from non-normality are distinguished from the healthy surface sections. In the results section, the efficiency of the mentioned method has been measured on medical images and stone and ceramic images, and its detection accuracy has been compared with some previous effective methods. The advantages of the presented method include high accuracy, low calculations and compatibility with all types of levels due to the use of the learning stage. The proposed approach can be used in medical applications to diagnose abnormalities such as diseases. All extracted features are statistical, so its detection speed is higher than deep neural networks.

Using both GRACE satellite data and statistical records, we apply the advanced Super-SBM model in this study to evaluate the efficiency of water resource utilization in 34 prefecture-level cities across three provinces in Northeast China from 2003 to 2020. Furthermore, we employ the Tobit model to examine the factors influencing efficiency. Our findings suggest that while spatial clustering is moderately low, the efficiency of water resource utilization in the Northeast Region is praiseworthy and significantly correlates with the level of technological advancement. Four distinct categories can be identified among the prefecture-level cities based on the scale and technological efficiency of water resource utilization. To promote enhanced utilization of water resources, different regions should implement measures that are specifically tailored to their unique circumstances.

Ostreococcus tauri is a simple unicellular green alga representing an ecologically important group of phytoplankton in oceans worldwide. Modern molecular techniques must be developed in order to understand the mechanisms that permit adaptation of microalgae to their environment. We present for the first time in O. tauri a detailed characterization of individual genomic integration events of foreign DNA of plasmid origin after PEG-mediated transformation. Vector integration appears to be random, occurring mainly at a single locus, and thus confirming the utility of this technique for insertional mutagenesis. While the mechanism of double-stranded DNA repair in the O. tauri model remains to be elucidated, we clearly demonstrate by genome resequencing that the integration of the vector leads to frequent structural variations (deletions/insertions and duplications) and some chromosomal rearrangements in the genome at the insertion loci, and often within the vector sequence itself. From these observations, we speculate that a non-homologous end joining-like mechanism is required during random insertion events, as described in plants and other freshwater algal models. PEG-mediated transformation is therefore a promising molecular biology tool, not only for functional genomic studies, but also for biotechnological research in ecologically important marine algae.

The complete-lattice approach to optimization problems with a vector- or even set-valued objective already produced a variety of new concepts and results and was successfully applied in finance, statistics and game theory. For example, the duality issue for multi-criteria and vector optimization problems could be solved using the complete-lattice approach, compare [11]. So far, it has been applied to set-valued dynamic risk measures (in the stochastic case), as discussed in Feinstein, Rudloff etc. (see [11], for example), but it has not been applied to deterministic calculus of variations and optimal control problems. In this paper, the following problem of set-valued optimization is considered: minimize the functional $$ \overline J_t[y]=\int_0^t \overline L(s,y(s),\dot y(s))\ ds + U_0(y(0)) $$ over all admissible arcs $y$, where $\overline L$ is the associated multifunction to a vector-valued Lagrangian $L$, the integral is in the Aumann sense and $U_0$ is the initial cost. A new concept of \emph{value function}, for which a Bellman's optimality principle holds, is introduced. Also the classical result of the Hopf-Lax formula holds for the generalized value function. Finally, a derivative with respect to the time $t$ and a directional derivative with respect to $x$ of the value function are defined, based on ideas close to the concepts in [12]. The value function is proved to be solution of a suitable Hamilton-Jacobi equation.

This study provides a detailed investigation into the pathways through which microplastics from urban sources are transported to marine ecosystems, their distribution across different environments, and their impacts on marine life. Utilizing a combination of water and sediment sampling across urban, riverine, and marine environments, the research quantitatively assesses the concentration and types of microplastics present, and evaluates the ecological consequences of their accumulation in marine ecosystems. The findings reveal a significant concentration of microplastics in all examined environments, with the highest levels detected in urban areas, closely linked to industrial activities and inadequate waste management practices. The study documents a variety of microplastic polymers, with polyethylene (PE), polypropylene (PP), and polyethylene terephthalate (PET) being the most prevalent. A substantial impact on marine organisms was observed, including evidence of microplastic ingestion across a wide range of species and indications of stress and physical damage to coral reefs. Seasonal variations indicate that microplastic concentrations peak during periods of high rainfall, suggesting urban runoff as a critical pathway for microplastic transport. The study concludes with recommendations for improving waste management practices, enhancing public awareness and engagement in plastic recycling efforts, and implementing policies aimed at reducing the production and use of single-use plastics. This research underscores the urgent need for coordinated actions to mitigate the pervasive issue of microplastic pollution, highlighting the role of urban management and policy interventions in safeguarding marine ecosystems.

This work is the result of a two-year research leave (French CNRS delegation) with field research in France, India and England, based on a total of 36 interviews in the three countries. The aim of this publication is to discuss how the laws of different countries deal with gender and what representations the laws reveal about gender roles in the societies they regulate through discourses. For example, France, England and India have laws that are more or less specific about gender roles in society: the language used to express the laws also fulfils gender roles while affecting people’s everyday lives. The whole issue of gender and rights is about the presumed and desired equality of rights for women and men, and the way in which this corresponds to the reality of women’s and men’s lives. Indeed, laws are necessary to regulate human relations in society. For example, anti-discrimination laws exist to protect and regulate these relationships in a common space, to regulate and combat abuse. The emphasis on gender – including gender roles – and LGBTQ+ people shows that this phenomenon is understood and experienced differently in global practice. Our examples in this publication focus on France and India.

The Environmental interactions contributed to the processes of settlement and development of the first settlers at southern Peru 15,000 BC. The determination of this process is based on paleoclimatic studies at southern Peru and ethnoarchaeological evidence. The determination of this process is based on paleoclimatic studies of southern Peru and ethnoarchaeological evidence; establishing as a result of this analysis the hypothesis of environmental interaction and territorial occupation of the first hunter-gatherer populations until their consolidation, dominating the geographical space from Tacna. The Disruptive disaster events and their effects on climate during the Peruvian Paleolithic resulted in the origin of local societies that shaped the Tiawanaku societies of the early horizon at Southern Peru and Northern Chile.

Psychiatric disorders are mental, behavioral or emotional disorders. These conditions are prevalent, one in four adults suffer from any type of psychiatric disorders world-wide. It has always been observed that psychiatric disorders have a genetic component, however new methods to sequence full genomes of large cohorts have identified with high precision genetic risk loci for these conditions. Psychiatric disorders include, but are not limited to, bipolar disorder, schizophrenia, autism spectrum disorder, anxiety disorders, major depressive disorder, and attention-deficit and hyperactivity disorder. Several risk loci for psychiatric disorders fall within genes that encode for voltage-gated calcium channels (Ca_Vs). Calcium entering through Ca_Vs is key for multiple neuronal processes. In this review, we will summarize recent findings that link Ca_Vs and their auxiliary subunits to psychiatric disorders. First, we will provide a general overview of Ca_Vs structure, classification, function, expression and pharmacology. Next, we will summarize tools and databases to study risk loci associated with psychiatric disorders. We will examine functional studies of risk variations in Ca_V genes when available. We will review pharmacological evidence of the use of Ca_V modulators to treat psychiatric disorders. Our review will be of interest for those studying pathophysiological aspects of Ca_Vs.