This study investigates the influence of internal factors on growth dynamics in four Cyprinus carpio varieties: three Romanian strains (Frăsinet, Ineu, and Podu Iloaiei) and the ornamental Koi variety. The research aims to elucidate variety-specific growth patterns and their implications for aquaculture and ecological management. Fish were measured for total length, maximum height, and weight at four ontogenic stages: 7 days post-hatch, summer fingerlings (0⁺), one year and summer old (1⁺), and two years and summer old (2⁺). Weight Gain (WG), Specific Growth Rate (SGR), Relative Growth Rate (RGR), Fulton's condition factor, and profile index were calculated and analyzed. Results revealed significant intervariety differences in growth performance, body shape development, and physiological condition across life stages. The Romanian varieties showed superior growth performance at later stages, while Koi exhibited unique growth patterns. Fulton's condition factor and profile index varied markedly among varieties and life stages, indicating differential energy allocation and morphological adaptations. These findings highlight the complex interplay between genetic factors and developmental processes in carp varieties, providing valuable insights for selective breeding programs, aquaculture practices, and ecological management strategies. The study underscores the importance of variety-specific approaches in carp cultivation and conservation efforts.

(1) Background: In most cases, passive isolation control methods are commonly used for the seismic isolation design of bridge engineering. However, for passive seismic isolation devices, due to their non-adjustable performance parameters, it is challenging to achieve a good seismic isolation effect for structures under random and variable seismic loads in the wide frequency range of 0 Hz to 20 Hz; (2) Methods: the sensitivity of the design parameters of the seismic isolation bearing was analyzed using the optimization center gradient method, and an improved genetic algorithm was employed to quickly optimize and obtain the optimal design parameters; (3) Results: the effectiveness of the three-dimensional seismic isolation bearing was validated through experiments. (4) Conclusions: The multi-factor sensitivity analysis approach used in this study for designing novel isolation bearings is applicable not only to seismic design in bridges but also serves as a reference for parameter design in isolation bearings requiring medium to high precision in seismic performance.

Background: Obesity and Type 2 diabetes (T2D) promote inflammation, increasing the risk of colorectal cancer (CRC). High-fat diet (HFD)-induced obesity plays a key role in these diseases through biological mechanisms. This study examined the effect of genetic background on the multimorbidity of intestinal cancer, T2D, and inflammation due to HFD-induced obesity. Methods: A cohort of 357 Collaborative Cross (CC) mice from 15 lines was fed either a control chow diet (CHD) or HFD for 12 weeks. Body weight was tracked biweekly, and blood glucose was assessed at weeks 6 and 12 via intraperitoneal glucose tolerance tests (IPGTT). At the study's endpoint, intestinal polyps were counted, and cytokine profiles were analyzed to evaluate the inflammatory response. Results: HFD significantly increased blood glucose levels and body weight, with males showing higher susceptibility to T2D and obesity. Genetic variation across CC lines influenced glucose metabolism, body weight, and polyp development. Mice on HFD developed more intestinal polyps, with males showing higher counts than females. Cytokine analysis revealed diet-induced variations in pro-inflammatory markers like IL-6, IL-17A, and TNF-α, differing by genetic background and sex. Conclusions: Host genetics plays a crucial role in susceptibility to HFD-induced obesity, T2D, CRC, and inflammation. Genetic differences across CC lines contributed to variability in disease outcomes, providing insight into the genetic underpinnings of multimorbidity. This study supports gene-mapping efforts to develop personalized prevention and treatment strategies for these diseases.

Arabidopsis and other model plants can help improve crops by providing a reference framework for assembling omics data from plants. Arabidopsis is extensively studied and has a well-curated and annotated genome, making it an excellent reference organism for comparative analysis. When there is no reference genome of the organism being investigated, using the genome of Arabidopsis may be an option thanks to the extensive knowledge we have about it. Crop improvement can help to increase crop yields, improve crop quality, and enhance resistance to pests, diseases, and environmental stresses. It can also help to reduce the use of pesticides and fertilizers, which can have negative impacts on the environment and human health. Therefore, crop improvement is essential to ensure food security and sustainability in the face of global challenges such as climate change, land degradation, and water scarcity. The assembly process of genomic, transcriptomic, and metabolomic data from plants using carefully selected information on Arabidopsis can lead to a deeper understanding of organisms and their potential for genetic improvement for crops. However, the successful integration of data requires expertise and experience to design more effective and precise crop improvement strategies.

Wheat is threatened by global warming. This study aimed to characterize based on DNA profile and identify heat-tolerant wheat genotypes. Fifteen wheat genotypes were sown in Nov 21 and Dec 21 and evaluated within 13 SSR markers. A dendrogram classified the genotypes into two main groups. The highest genetic distances (0.93) were drawn between BAW 1290 and BARI Gom 28, and the lowest one between Nadi 2 and BAW 1147. Heat susceptibility index (HSI) values for 1000-grain weight (TGW) and grain yield indicated moderate heat tolerance in Cluster I genotypes (HSI 0.50-1.00), closely matching Group A's Cluster II members. In Group B, Cluster III genotypes had higher HSI (1.04-1.23) and significant reductions in TGW and grain yield under heat stress, indicating heat susceptibility. The varieties BARI Gom 25, 26, 27, 28, 29, and 30 were identified as heat-stress tolerant. This research provides insights for future heat stress-molecular breeding programs.

Understanding the relationship between sugar yield and related traits is crucial for successfully breeding this important industrial crop. Thirteen sugar beet monogram cultivars were evaluated during 2018-2019. The study used a split-factorial design with two planting dates as the main plot, while cultivars and harvesting dates were laid out as CRBD as subplots. Significant differences were observed among the cultivars for all measured traits. The genetic correlation coefficients showed the highest positive and significant correlations between sugar yield and white sugar yield (WSY) (0.88**), sugar content (SC) (0.71**), and white sugar content (0.65**). Conversely, the highest negative and significant correlations were found between sugar yield and molasses sugar content (-0.62**), alkalinity coefficient (-0.58**), and root potassium content (-0.52**). In the stepwise multiple regression analysis, white sugar content (WSC), sugar content (SC), root α-amino nitrogen content, and root yield were included in the regression model, explaining 84% of the total variance in the sugar yield. Path analysis revealed that sugar content (1.12) and root yield (1.03) had the highest direct effects on sugar yield. These traits can be used as key criteria for developing superior hybrids with high economic productivity, thereby accelerating the selection process in various breeding programs.

Porcine circovirus-associated diseases, caused by porcine circovirus type 2 (PCV2), are widespread and result in significant economic losses to the global swine industry. It is generally believed that PCV2 can be divided into nine genotypes (PCV2a to PCV2i), with the dominant being the PCV2d genotype. In this study, 2675 samples from pig farms in 13 cities in Jiangsu Province, China, were collected between 2014 and 2021 and subjected to polymerase chain reaction analysis to investigate the prevalence and genetic diversity of PCV2. The results showed that 41.42% (1108/2675) of samples tested positive for PCV2. The researchers further analyzed the genetic characteristics of 251 PCV2 strains and found that they belonged to the following four genotypes: PCV2a, PCV2b, PCV2d, and PCV2i. The dominant genotype was PCV2d, with a prevalence of 49.80% (125/251). The detection rate of PCV2b was significantly higher than those of PCV2a and PCV2i, at 35.46% (89/251), 7.57% (19/251), and 7.17% (18/251), respectively. We have further revealed the fingerprint of PCV2i genomic nucleotides for the first time. In conclusion, this study illustrates the high prevalence and evolutionary features of PCV2 in Jiangsu Province over the past few years.

Introduction: Situated within the broad spectrum of lymphoproliferative diseases, Hodgkin (HL) and non-Hodgkin lymphomas (NHL) are neoplasms renowned for their complexity and heterogeneity, insidious onset, and frequent detectability at advanced, even terminal, stages worldwide.Objectives: The study aimed to compile conclusive statistics, identify genetic factors, and establish correlations with environmental carcinogens, while simultaneously highlighting the importance of developing preventive informational programs for the population.Materials and Methods: The retrospective study encompassed individuals admitted to the Hematology Clinic of "Sfântul Spiridon" Hospital in Iași between January 1, 2010 and December 31, 2019. Out of 1916 patients hospitalized with hematologic neoplasms, 392 were diagnosed with lymphoma. Eighty-four cases exhibiting genetic predisposition (21.42%) were selected, among which 20 displayed a heightened genetic burden (5.1%). These cases were thoroughly analyzed based on medical records.Results and discussion: The study underscores/highlights/emphasizes the significant position of malignant lymphomas among hematologic neoplasms (20.45%). Although the majority do not present malignant heredocolateral antecedents(78.58%), with an estimated empirical recurrence risk(2-4%), predisposing diseases, along with exposure to environmental carcinogens, as well as the region of residence, play fundamental roles in the determinism. It is observed that older individuals from urban agglomerations, especially males (54-70%), have a higher probability of developing these conditions and are therefore recommended to undergo regular check-ups.Conclusion: Unequivocally characterized by a vast etiology, multifactorial diseases result from the bilateral interaction between environmental and hereditary factors.

The integration of genetic technologies into neurological diagnostics has significantly enhanced our ability to understand and manage neurological disorders. This article discusses the functional analysis of key genetic tests, including microarray analysis, variant sequencing, exome sequencing, RNA sequencing, and whole genome sequencing. Each of these technologies offers unique advantages and challenges, providing a comprehensive toolkit for diagnosing and understanding the genetic basis of neurological conditions. The functional insights gained from these tests not only detect genetic abnormalities but also elucidate their functional consequences, aiding in the diagnosis, prognosis, and management of neurological disorders. As these technologies continue to evolve, they are expected to play an increasingly important role in the field of neurological diagnostics, paving the way for personalized medicine and improved patient outcomes.

The development of transport infrastructure is a key element of economic growth, social connectivity, and sustainable development. Many countries have historically underinvested in transport infrastructure, necessitating more efficient strategic planning in transport infrastructure investment projects implementation. This article addresses the selecting and scheduling of transport infrastructure projects, specifically within the context of drawing available resources from pre-allocated funds within a multi-annual budget investment program. The current decision-making process is largely based on expert judgment, lacking quantitative decision support methods. The authors propose a genetic algorithm as a decision-support tool that frames the problem as an NP-hard 0-1 multiple knapsack problem. The proposed genetic algorithm is unique for its matrix-encoded chromosomes, specially designed genetic operators, and a customized repair operator, which is implemented to address the large number of invalid chromosomes generated during the GA computation. The goal is to maximize the impact of allocated funds over a seven-year programming period, while respecting constraints specified by the funding authorities. In computational experiments, proposed GA is compared to an exact solution and is proved to be efficient in terms of quality of obtained solutions and computational time, highlighting its potential for enhancing strategic decision-making in transport infrastructure development.

The integration of Genetic Algorithms (GAs) into Serious Games (SGs) has gained traction as a method to optimize game mechanics and personalize user experiences. While GAs are well-known for their effectiveness in solving complex optimization problems, their application in SGs remains relatively under-explored. This review aims to address this gap by systematically mapping the existing literature on the intersection of these two fields. The primary objective of this scoping review is to identify and synthesize the existing research on the application of GAs in SGs, with a focus on understanding the current state of the field, identifying common applications, challenges, and potential future directions. The review includes studies published in English that focus on the use of GAs within SGs. The search encompassed articles from academic journals and conference proceedings without restrictions on publication dates. Exclusion criteria included studies that did not specifically address the integration of GAs in SGs. A systematic search was conducted in databases such as ACM Digital Library, Web of Science, Scopus and Inspec in July 2024. The search terms used included "genetic algorithm," "evolutionary algorithm," "computational algorithm," and "serious games." Unpublished data and articles were not considered. Data were charted using a PRISMA flowchart developed by the author VV. Key categories for data extraction included study objectives, methods, outcomes, type of study and GA used and the specific applications of GAs in SGs. Data charting was conducted independently by two reviewers, with disagreements resolved through discussion and consensus. The search identified 154 studies, of which 23 met the inclusion criteria. The included studies highlight the diverse applications of GAs in SGs, ranging from optimizing game scenarios to personalizing learning experiences. Challenges identified include the computational complexity of GAs and difficulties in their integration into existing game frameworks. The findings of this review suggest that while the use of GAs in SGs is a promising area of research, it remains in its nascent stages. Future research should focus on addressing the technical challenges of integrating GAs into SGs and exploring their application across a wider range of game genres and educational contexts. Limitations of the review include the potential for publication bias and the exclusion of non-English language studies.

Stem cell-derived therapies have shown substantial promise in regenerative medicine for the treatment of degenerative diseases and injuries. Mesenchymal Stem Cells (MSCs) exhibit a remarkable capacity to differentiate into diverse cell types, modulate immune responses, and facilitate tissue repair. Nevertheless, concerns regarding their potential to induce tumors arise from their intrinsic properties, environmental factors, and genetic mutations that occur during handling. This review explores the intricate challenges associated with the tumorigenic potential of stem cell-derived therapeutic products and examines the underlying mechanisms contributing to this risk, such as oncogene activation, suppression of tumor suppressor genes, and the influence of the microenvironment on stem cell behavior. Furthermore, it delves into the role of epigenetic modifications and chromosomal aberrations in cell culture and expansion. This article provides an overview of strategies to mitigate tumorigenic risks, encompassing rigorous quality control measures, refined differentiation protocols, and advanced screening techniques. It also highlights innovative approaches, such as gene editing technologies and small-molecule modulation of stem cell behavior, as promising avenues to enhance safety. Despite these challenges, ongoing research and technological advancements are actively addressing these concerns to ensure safer and more effective utilization of stem cell-based therapies in clinical settings.

The field of neurology has undergone a profound transformation over the past two decades, shifting from traditional clinical and pathological approaches to a more genetically informed perspective. This essay explores the drastic turn in neurology from classical disciplines to neurogenetics, examining the factors that have contributed to this shift and the implications for clinical practice and research. The traditional approach to neurology, grounded in clinical examination, neuroanatomy, and neuropathology, has been effective in diagnosing and treating many conditions but has had limitations in understanding the etiology of complex and rare neurological disorders. The emergence of neurogenetics has been driven by advancements in genetic technologies, such as next-generation sequencing (NGS) and genome-wide association studies (GWAS), as well as the recognition of the genetic basis of many neurological disorders. This shift has led to more accurate diagnoses, targeted treatments, and a deeper understanding of the molecular mechanisms underlying neurological disorders. However, challenges remain, including the complexity of genetic architecture and the ethical implications of genetic testing. The future of neurogenetics holds great promise for improving the diagnosis, treatment, and prevention of neurological conditions, with new technologies and interdisciplinary approaches poised to further advance the field.

Magnaporthe oryzae is a filamentous heterothallic ascomycete fungus globally distributed in rice-growing regions and serves as the causative agent of rice blast disease. Populations shaped by environmental factors and human intervention play important roles in the formation of genetic structure. In this study, population structures and spatiotemporal dynamics were investigated based on the large-scale whole genomic sequences of rice-infecting M. oryzae around the world. By analyzing the genetic structures, we identified divergent clades that crossed geographic boundaries. While we observed associations between the isolates and their geographic origins, we also found that there were frequent migration events occurring worldwide. The populations in Asia demonstrated the highest genetic diversity due to the continent’s history of rice domestication, followed by separate gene flows to Africa, North America, South America and Europe. Within Asia, China was the migration origin, facilitating gene flows to Japan and South Korea. Additionally, our analysis of the evolutionary history of global M. oryzae populations provided insights into the population expansion that has taken place in recent decades. Overall, our findings indicate that human-mediated gene flows played a pivotal role in shaping the genetic structure of M. oryzae.

Genetic transformation is a critical tool for gene manipulation and functional analyses in plants, enabling the exploration of key phenotypes and agronomic traits at the genetic level. While dicotyledonous plants offer various tissues for in vitro culture and transformation, monocotyledonous plants, such as rice, have limited options. This study presents an efficient method for genetically transforming rice (Oryza sativa L.) using seed-derived embryogenic calli as explants. Two target genes were utilized to assess regeneration efficiency: green fluorescent protein (eGFP) and the apple FLOWERING LOCUS T (FT)-like gene (MdFT1). Antisense MdFT1 was cloned into a vector controlled by the rice α-amylase 3D (Ramy3D) promoter, while eGFP was fused to Cas9 under the Ubi promoter. These vectors were introduced separately into rice embryogenic calli from two Korean cultivars using Agrobacterium-mediated transformation. Transgenic seedlings were successfully regenerated via hygromycin selection using an in vitro cultivation system. PCR confirmed stable transgene integration in the transgenic calli and their progeny. Fluorescence microscopy revealed eGFP expression, and antisense MdFT1-expressing lines exhibited notable phenotypic changes, including variations in plant height and grain quality. This study demonstrated the effective use of seed-derived embryogenic calli for rice transformation, offering a promising approach for developing transgenic plants in monocot species.

This paper addresses the challenges faced by icebreakers in polar environments, particularly the difficulty in sensing underwater ice formations when navigating through thick ice layers, which often results in suboptimal icebreaking effectiveness. To overcome these challenges, this paper introduces a novel underwater robot equipped with both sensing and ice-breaking capabilities. We propose a path planning method for icebreaking that leverages the synergistic capabilities of the Safe Particle Swarm Optimization and Genetic Algorithm (GA-SPSO). The GA-SPSO algorithm integrates the global search prowess of the particle swarm optimization with the local optimization strength of the genetic algorithm, enabling efficient and adaptive path planning in complex ice environments. The underwater unmanned vehicle (UUV)-assisted icebreaking approach developed here utilizes the UUV's flexibility and high-precision environmental sensing to provide real-time optimization suggestions for icebreaker navigation paths. Simulation results demonstrate that the GA-SPSO algorithm not only effectively circumvents hazardous areas but also significantly reduces the energy consumption and operational time of icebreakers, thereby enhancing the safety and stability of navigation. When compared to the conventional Safe Particle Swarm Optimization (SPSO), our approach shows marked improvements in path length, convergence speed, and obstacle avoidance capabilities, significantly enhancing the success and efficiency of polar navigation missions.

Accurate, rapid, and stable prediction of electrical energy consumption is essential for decision-making, energy management, efficient planning, and reliable power system operation. Errors in forecasting can lead to electricity shortages, wasted resources, power supply interruptions, and even grid failures. Accurate forecasting enables timely decisions for secure energy management. However, predicting future consumption is challenging due to the variable behavior of customers, requiring flexible models that capture random and complex patterns. Existing forecasting methods, both traditional and modern, have limitations and do not fully meet accuracy expectations. To address these issues, this research introduces a hybrid models that combine FCRBM based forecaster, and GWDO based optimizer, namely FS-FCRBM-GWDO approach to enhance the model performance in STLF have been developed. While some models excel in accuracy and others in convergence rate, both aspects are crucial. The main objective is to create a forecasting model that provides reliable, consistent, and precise predictions for effective energy management. This led to the development of a novel two-stage hybrid model. The first stage predicts electrical energy usage through four modules using deep learning, support vector machines, and optimization algorithms. The second stage optimizes energy management based on predicted consumption, focusing on reducing costs, managing demand surges, and balancing electricity expenses with customer inconvenience. This approach benefits both consumers and electricity corporations by lowering bills and enhancing power system stability. Simulation results validate the proposed model's efficacy and efficiency compared to benchmark models.

Apple-tree (Malus × domestica Borkh.) belongs to the genus Rosaceae. Due to its adaptability and tolerance to different soil and climatic conditions, it is cultivated worldwide for fresh consump-tion. Therefore, the priorities of apple growers are the high-quality of fruits and stable yield for high production. In total about 90 to 95 percent of fruits should fall or be eliminated from apple trees to avoid overcropping and poor-quality fruits. Several technologies such as handwork, me-chanically or chemical substances are used for fruit and bud elimination. The most profitable in commercial orchards is the use of chemicals for elimination, but due to the European Green Deal more environmentally sustainable solutions are required. Elimination of fruitlets is influenced by several factors. Additionally, the apple trees have the self-elimination mechanism. This is de-termined by apple genotype, physiological futures and genetics. This review focuses on the bio-logical factors and genetics mechanisms in apple yield self-regulation for better understanding the regulatory mechanism of fruitlets abscission for future breeding programs targeted on self-regulating yield apple varieties

Recent data has shown a continued rise in the worldwide annual incidence and mortality rates of head and neck cancers. The present standard for diagnosis and monitoring for disease recurrence or progression involves clinical examination, imaging, and invasive biopsy techniques of lesions suspected of being malignant. In addition to limitations relating to cost, time, and patient discomfort, these methodologies have inherent inaccuracies for detecting recurrence. In view of these limitations, the analysis of patient bodily fluid samples via liquid biopsy proposes a cost-effective and convenient alternative, which provides insight on the biogenetic and biomolecular underpinnings of oncologic disease processes. Liquid biopsy’s monitoring for biomarkers of head and neck cancer, including circulating tumor DNA, circulating tumor cells, and circulating cell-free RNA, has shown clinical utility in the screening, diagnosis, prognostication, and monitoring of patients with various forms of head and neck cancer. The present review will provide an update on the current literature examining the use of liquid biopsy in head and neck cancer care and the clinical applicability of potential biomarkers, with a focus on viral and non-viral circulating tumor DNA. Possible future avenues for research to address specific shortcomings of liquid biopsy will be discussed.

It is documented that maternal diseases or treatments influence a newborn’s clinical status at birth; autoimmune diseases with circulating antibodies are often clinically expressed transiently in newborns due to the crossover of the specific IgG through the placenta during pregnancy. The offspring can inherit maternal genetic anomalies, but clinical expression usually becomes patent later in life. If prenatal medical history is not available or if signs or symptoms of a mother’s disease are revealed for the first time during pregnancy or postpartum, their effects on the newborn may be misattributed. In this article, we present three cases of pregnant women, without any known pathology before or during pregnancy, who gave birth to very sick preterm newborns that required admission to the Neonatal Intensive Care Unit (NICU). The neonates’ complications were considered initially as consequences of prematurity or infection, but later investigations revealed transient autoimmune disease in two of the cases (myasthenia gravis and hyperthyroidism) and a severe form of thrombophilia in the third case. In all cases, mothers were asymptomatic and unaware of their subclinical disease. Preemies’ diagnosis has contributed to the identification of their mothers’ pathology and adequate treatment was prescribed with favourable short- and long-term outcomes. In one of the cases (myasthenia gravis) both mother and child had associated infectious diseases in the perinatal period that complicated the clinical picture and created problems of diagnosis. This article intends to emphasize the paramount importance of prenatal care, for both mother and newborn. Repeated medical visits and investigations throughout the pregnancy are a good opportunity to detect subclinical diseases or predispositions. As newborns usually develop non-specific signs, one should have experience and pay attention to differentiate among etiologies. Our paper takes a reversed approach to the usual medical diagnosis pathway: from infant to mother instead of mother towards the infant, proving that inter-speciality collaboration can work bi-directionally.

Background. Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal RDS to interstitial lung disease, associated with increased morbidity and mortality. This study aims to clarify the clinical significance of ABCA3 variants found in a specific family case, as existing data in the literature is inconsistent. Material and methods: A family case report was conducted; targeted panel genetic testing identified a variant of the SFTPB gene and two variants of ABCA3 genes. Comprehensive research involving a systematic review of PubMed, Google Scholar databases, and genome browsers was used to clarify the pathogenicity of the two ABCA3 variants found in the index patient. Advanced prediction tools were employed to assess the pathogenicity of the two ABCA3 variants, ensuring the validity and reliability of our findings. Results: The index case exhibited fatal neonatal RDS. Genetic testing revealed the presence of the SFTPB p.Val267Ile variant, not previously reported, a benign variant based on family genetic testing and history. Additionally, two ABCA3 gene variants were identified: c.697C>T, not yet reported, and c.838C>T. These variants were found to affect ABCA3 protein function and were likely associated with neonatal RDS. Prediction tools and data from nine other cases in the literature supported this conclusion. Conclusions: Based on in silico predictors, analysis of the presented family, and cases described in the literature, it is reasonable to consider reclassifying the two ABCA3 variants identified in the index case as pathogenic/pathogenic. Reclassification will improve genetic counseling accuracy and facilitate correct diagnosis.

Goldenhar Syndrome (GS), also known as oculoauriculovertebral spectrum (OVAS), is a rare congenital condition characterized by impaired development of structures such as ears, eyes, nose, palate, lip, mandible, maxilla, and teeth. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors, yet the syndrome has many unknowns. We report a case of a 31-year-old male diagnosed clinically with GS as an infant with an absent left ear, hearing loss, absent left lung lobe, reduced growth of left upper limb, decreased size of left face, absent left kidney, and a missing left thumb, who was seen in the genetic clinic for prenatal genetic counseling. A microarray comparative genome hybridization (aCGH) was performed for copy number abnormalities and targeted NGS panels were performed for hereditary hearing loss and limb/digital malformations. aCGH revealed a 471kb loss at 16p12.2 and a mosaic 7.3Mb gain at 19p12q12. Metaphase FISH confirmed the orientation of 19p12q12 gain as small supernumerary ring chromosome 19. NGS revealed multiple variants (MYH14 c.4001C>T, PDE1C c.8C>T, ADGRV1 c.15502A>G, CDH23 c.8772C>A, MYO3A c.484G>A, ADAMTS10 c.506G>A, CHUK c.1294C>T, CSPP1 c.1972A>G, and TCTN2 c.160G>A). Due to the heterogeneous clinical manifestation and genetic heterogeneity of GS, a comprehensive genetic testing strategy is needed for timely diagnosis and better patient care.

Abstract: This study aimed to assess the agronomic performance and yield stability of elite white yam (Dioscorea rotundata) genotypes across diverse Nigerian environments. Twenty-five genotypes were evaluated at three locations in two consecutive growing seasons, 2022 and 2023. The genotypes were assessed for their agronomic performance, tuber yield and related traits using various analytical tools such as AMMI (Additive main effects and multiplicative interaction) and MTSI (Multi-trait stability index). The AMMI analysis revealed significant differences among the genotypes and across the environ-ments for all traits (p

Tamil Nadu, a state in southern India, is bereft of any native milch or dual-purpose cattle breed and the state depends chiefly on crossbred cattle for milk production. As most (90 percent) of the milk production in the state was contributed by Jersey crossbred cattle, the genetic evaluation study was intended to assess the milk production traits viz., test-day milk yields (TDMYs), total milk yield (TMY) and 305-day milk yield (305MY) in these crossbred cattle reared under farmers’ rearing environment. Data on monthly TDMYs (TDMY1 to TDMY10) of Jersey crossbred cows (n=81,653) reared by the farmers over 24 years (1999-2022) were collected for evaluation. The influence of non-genetic factors viz., location (agroclimatic zones), period and season of calving, and parity on TDMYs, TMY, and 305MY were assessed, and the variance and covariance components for genetic parameters (heritability and genetic correlation) of the traits were estimated by the method of restricted maximum likelihood (REML) under multivariate animal model and by random regression model (RRM). The overall means of various TDMYs ranged from 4.98 (TDMY10) to 9.95 kg (TDMY2) and, for TMY and 305MY the means were 2480.33 and 2393.71 kg respectively. The heritabilities estimated by animal model for TDMYs were high and ranged from 0.39 ± 0.01 to 0.47 ± 0.01 and were fairly less variable throughout the lactation while the estimates obtained by RRM were medium to high and ranged between 0.28 ± 0.01 and 0.65 ± 0.02 for different days in milk (DIMs). The heritability estimated for TMY and 305MY were 0.48 ± 0.01 and 0.49 ± 0.01 respectively. The estimates of heritability in mid-lactation yields were comparatively little less than those at the beginning and the end of lactation. The high estimates of heritabilities for TDMYs, TMY, and 305MY obtained in the present study offered an ample scope for improving milk production through selective breeding. Genetic correlations between TDMYs estimated by animal model were positive and moderate to high, with a range between 0.47 ± 0.01 and 0.99 ± 0.00. Considerably higher estimates (0.97-0.99) were observed between adjacent TDMYs showing strong genetic associations. By RRM, genetic correlations estimated between DIMs were positive, except for a few estimates and the magnitude of genetic correlation decreased with an increase in the interval between the DIMs. The high genetic correlation observed between the TDMYs in early and mid stages of lactation with TMY and 305MY suggested that these test day yields could be used favorably for the early selection of cows for milk production which facilitates reduction in the generation interval and consequently increase the annual genetic gain for the milk production traits.

The rise in precocious puberty cases can be attributed to a combination of genetic and environmental factors. Genetic factors play a significant role, with studies identifying genetic abnormalities in genes such as KISS1, KISS1R, MKRN3, DLK1, GABRA1, LIN28B, NPYR, TAC3, and TACR3, which are associated with central precocious puberty (CPP). Epigenetic factors like DNA methylation and histone modifications may mediate the relationship between genetic and environmental influences on CPP development. Environmental factors such as exposure to secondhand smoke, cesarean section, and BMI have also been linked to precocious puberty, particularly in girls, highlighting the multifactorial nature of this phenomenon. Understanding the interplay between these genetic and environmental factors is crucial in addressing the increasing prevalence of precocious puberty in children. The published literature in the past five years was systematically reviewed and summarized highlighting the interplay of genetic and environmental factors for the rise in the precocious puberty.

Inherited cardiomyopathies are a diverse group of heart muscle diseases caused by genetic mutations that result in structural and functional abnormalities of the myocardium. Understanding genotype-phenotype correlations in these conditions is vital for personalized cardiac medicine, enabling targeted therapeutic strategies and predictive diagnostics. This review explores the major types of inherited cardiomyopathies—hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM)—and provides detailed insights into how different genetic mutations manifest as clinical features. The integration of multi-omics approaches and advanced disease modeling techniques has enhanced our ability to dissect these correlations. The review also discusses the implications of these findings for personalized medicine, including tailored therapeutic strategies, predictive diagnostics, and future research directions.

As waterflooding multi-layer reservoirs get into the high-water-cut stage, inter-layer conflicts become increasingly serious, leading to a worsening development effect over time. Production layers regroup is an effective approach for resolving inter-layer conflicts and improving waterflooding efficiency. At the current stage, there are limitations for most of the methods of production layers regroup. This article proposes a smart method for optimizing the layer regroup plan based on genetic algorithm. Comprehensively considering various factors that affect the regroup of layers, based on the combination principle of "smaller intra-group variance and larger inter-group variance of each influencing factor are expected ", genetic algorithm is used to calculate the fitness value of the initial combination schemes, the advantageous schemes with higher fitness values are selected as the basis of the next generation. Then crossover and mutation operations are performed to those advantageous schemes to generate new schemes. Through continuous selection and evolution, until the global optimal solution with the highest fitness value is found, the optimal combination scheme is determined. Comparative analysis with numerical simulation results demonstrates the reliability of this intelligent method, with an increased oil recovery of 4.34% for the sample reservoir. Unlike selecting a preferable plan from a limited number of predefined combination schemes, this method is an automatic optimization to solve the optimal solution of the problem. It improves both efficiency and accuracy as compared to conventional reservoir engineering methods, numerical simulation methods and most of the mathematical methods, thus could provide effective guidance for EOR strategies of waterflooding reservoirs in high-water-cut stage.

The genus Chaetogaster belongs to the subfamily Naidinae (Naididae), includes mostly species of small size and is diverse and abundant in surface coarse sediments in streams. The aim of the present study is to initiate an inventory of lineages of Chaetogaster in Switzerland. We used 135 specimens collected at six sites in four streams of four cantons. We sequenced the cytochrome c oxidase (COI) gene from all specimens and ITS2 and rDNA 28S from all or several specimens of each lineage delimited using COI data and preserved a voucher of almost all sequenced specimens. We could delimit one lineage (=species) for Chaetogaster diaphanus (Gruithuisen, 1828), three within Chaetogaster diastrophus (Gruithuisen, 1828), one for Chaetogaster langi Brestcher, 1896, one for Chaetogaster setosus Svetlov, 1925 and three unidentified Chaetogaster spp. Two lineages of Chaetogaster spp. could correspond to a new morphological group, but this should be confirmed on more specimens. We described the three C. diastrophus lineages and two Chaetogaster spp. as new species for science. The prospects of the present work are to complete the data of the molecular diversity of this genus in Switzerland and to describe on a molecular/morphological basis the new Chaetogaster species that we will probably find.

Microgrid (MG) control is essential for efficient, reliable, and sustainable energy management in distributed energy systems. Genetic Algorithm-based energy management systems (GA-EMS) can optimally control a MG by finding global optima and handling complex, non-linear, and non-convex problems, but they can be computationally intensive, making real-time control challenging. Model Predictive Control (MPC)-based EMS predicts future behaviour over a defined horizon, ensuring optimal performance and constraint satisfaction but typically relies on linear models. This paper proposes a novel Genetic Predictive Control (GPC) method, combining GA and MPC to enhance resource allocation, balance multiple objectives, and adapt dynamically to changing conditions. Integrating GA with MPC significantly improves the handling of non-linearities and non-convexity in the system model, leading to more accurate and effective control. Comparative analysis shows that GPC significantly reduces excess power production—surplus power generated beyond load demand—improving resource allocation efficiency. For instance, in the Mutation–Random Selection scenario, GPC reduced excess power to 76.0W compared to 87.0W with GA. Additionally, GPC balances cost, emissions, and power efficiency. In the Crossover-Elitism scenario, GPC achieved a daily cost of $113.94 compared to GA's $127.80, and carbon emissions of 52.83 kg CO2e compared to GA's 69.71 kg CO2e, demonstrating GPC's cost efficiency and environmental benefits. While MPC optimizes a weighted sum of objectives, designing appropriate weights can be challenging and may result in non-convex problems. GA handles multiple, conflicting objectives through multi-objective optimization, providing Pareto-optimal solutions. GPC's dynamic adaptability maintains optimal performance by forecasting future load demands and adjusting control actions. GPC consistently achieves lower emissions than GA across various scenarios and, although it sometimes incurs higher costs, such as $113.94 compared to $131.90 in the Crossover–Random Selection scenario, its holistic approach balances these costs with other metrics, making it cost-effective in the long run. By reducing excess power production and emissions, GPC contributes to economic savings and promotes sustainable practices. These findings underscore GPC's potential as a versatile, efficient, and environmentally beneficial optimization tool for power generation systems.

To improve the current density distribution and electromagnetic performance of air-core inductors, a structural optimization method combining BP neural network and genetic algorithm was proposed for the study of axial and radial spiral multi-winding inductors. The Monte Carlo method was used to extract the structural size samples of the inductors, and the training dataset was obtained through finite element calculation of electromagnetic fields. Based on BP neural networks, nonlinear mapping models between the inductance value, volumetric inductance density, current distribution non-uniformity coefficient, and inductor structural parameters were constructed. The sensitivity analysis of the inductor inductance value affected by structural parameters was conducted through the Sobol index calculation. Using the current distribution non-uniformity coefficient as the fitness function and the volumetric inductance density as the constraint condition, the genetic algorithm was applied to optimize the structural parameters of the inductor globally. The optimization results were verified through finite element comparison. The results show that, under the requirement of satisfying the volumetric inductance density, the current distribution non-uniformity coefficient of AHI type inductor was reduced by 4.57% compared with the best sample in the sampling, while that of RHI type inductor was reduced by 5.33%, demonstrating the practicality of the BP-GA joint algorithm in the structural optimization design of inductors.

The immune response is crucial in Pregnancy Loss (RPL), which affects 1-2% of women. In RPL, peripheral blood lymphocytes and local immune cells are activated with a concomitant decrease in the leukocyte tolerogenic response in the uterus and decidua. IL-17 plays an essential role in T cell activation, weakening tolerogenic responses of the T cells. The report aims to analyze the IL-17 genetic polymorphism, circulating IL-17 lymphocyte populations, the reaction upon lymphocyte priming, the amount of cytokine in serum, and the number of T-reg cells in a group of 50 RPL and 50 normal women from the admixed Venezuelan population. No differences were observed in the genetic polymorphisms rs2275913 and rs763780. A significant decrease (P<0.001) was observed in RPL patients compared to controls in the IL-17+ cell populations CD3+, CD8+, CD56+, and CD4CD25 FoxP3, but not in the CD4IL17+ cells. The response upon cell priming was significantly decreased (P<0.001) in all subpopulations of RPL as compared to controls. It is concluded that despite the increase in IL-17A in the serum of patients, the number of circulating IL-17 cells and the lymphocyte response to stimulation was significantly decreased (p<0.001). No differences in the genetic polymorphism compared to controls suggest that biological factors influence IL-17 levels in RPL patients, which must be carefully studied.

The dominant part of energy performance of a building consists of consumption of heating and lighting. Both heating and lighting systems of buildings work at their designed efficiency for most of the buildings’ lifetimes. Interference with existing systems is costly considering replacements and construction adjustments. Therefore, considerable effort must be put into the design of these systems during the building design phase. The article is focused on luminaire layout design strategy, which affects the number of luminaires in a building and therefore their power consumption and the sustainability of the building. A genetic algorithm with radiosity implemented has been used to find suitable placements of luminaires of a single type in a model room to decrease the number of luminaires as much as possible. Three outcomes of optimal luminaire layout design are presented in this paper, including design strategy conclusions. Results of calculation outcomes are verified by software DIALux, that is commonly used for designing lighting systems.

Lung cancer, including both non-small cell lung cancer and small cell lung cancer, remains the leading cause of cancer-related mortality worldwide representing 18% of the total cancer deaths in 2020. Many patients are identified already at an advanced stage with metastatic disease and have a worsening prognosis. Recent advances in the genetic understanding of lung cancer have opened new avenues for personalized treatments and targeted therapies. This review examines the latest discoveries in the genetics of lung cancer, discusses key biomarkers, and analyzes current clinical therapies based on this genetic information. It will conclude with a discussion of future prospects and potential research directions.

The Amazonian shrub Myrciaria dubia (Kunth) McVaugh, known as "camu-camu", produces vitamin C-rich fruits of growing commercial interest. However, sustainable utilization requires assessment and protection of the genetic diversity of the available germplasm. We hypothesized that the ex situ M. dubia germplasm bank assembled from eight river basins across the Peruvian Amazon would harbor substantial genetic diversity and have a genetic population structure. This study aimed to (1) develop new polymorphic microsatellite markers, (2) characterize genetic diversity and validate the hypothesis in the ex situ germplasm, and (3) construct a core subset representing maximum allelic variability. Sixteen polymorphic microsatellite loci were developed using an enrichment approach. The evaluation of 336 genotypes from 43 accessions originating from eight river basins of the germplasm bank corroborated this hypothesis, revealing high gene diversity, with observed heterozygosity ranging from 0.468 to 0.644 and expected heterozygosity from 0.684 to 0.817 at the river basin level. Analysis of molecular variance showed a higher genetic variation within accessions and river basins, at 73% and 86%, respectively, than among accessions and river basins, at 27% and 14 %, respectively. Bayesian clustering detected the presence of ten genetic clusters, with several degrees of admixture among river basins. The Putumayo River basin showed a clear genetic homogeneity. A core collection of 84 genotypes was constructed, thus covering 86.7% of the global allelic diversity. These results have important implications for M. dubia conservation strategies and breeding programs, in demonstrating a need for genetic connectivity between populations but preserving unique genetic resources in isolated basins. These results validate the expected levels of diversity and population subdivision in a crop and stress the need to secure genetically diverse germplasms, underscoring the importance of thorough genetic characterization for ex situ germplasm management.

Localized protein translation occurs through trafficking of mRNAs and protein translation machineries to different compartments of the cell, leading to rapid on-site synthesis of proteins in response to signaling cues. The spatiotemporally precise nature of the local translation process necessitates continual developments of technologies reviewed herein to visualize and map biomolecular components and the translation process with better spatial and temporal resolution, and with fewer artifacts. We also discuss approaches to control local translation, which can serve as a design paradigm for subcellular genetic devices for eukaryotic synthetic biology.

Background: Smad4, a critical tumor suppressor gene, plays a significant role in pancreatic biology and tumorigenesis. Genetic background and sex are known to influence phenotypic outcomes, but their impact on pancreatic weight in Smad4-deficient mice remains unclear. This study investigates the impact of Smad4 deficiency on pancreatic weight in F1 mice from diverse Collaborative Cross (CC) lines, focusing on the influence of genetic background and sex. Methods: F1 mice were generated by crossbreeding female CC mice with C57BL/6J-Smad4tm1Mak males. Genotyping confirmed the presence of Smad4 knockout alleles. Mice were housed under standard conditions, euthanized at 80 weeks, and their pancreatic weights were measured, adjusted for body weight, and analyzed for effects of Smad4 deficiency, sex, and genetic background. Results: The overall population of F1 mice showed a slight but non-significant increase in adjusted pancreatic weights in heterozygous knockout mice compared to wild-type mice. Sex-specific analysis revealed no significant difference in males but a significant increase in adjusted pancreatic weights in heterozygous knockout females. Genetic background analysis showed that lines CC018 and CC025 substantially increased adjusted pancreatic weights in heterozygous knockout mice. In contrast, other lines showed no significant difference or varied non-significant changes. The interplay between genetic background and sex further influenced these outcomes. Conclusion: Smad4 deficiency affects pancreatic weight in a manner significantly modulated by genetic background and sex. This study highlights the necessity of considering these factors in genetic research and therapeutic development, demonstrating the value of the Collaborative cross-mouse population in dissecting complex genetic interactions.

Periodontal disease, a multifactorial inflammatory condition affecting the supporting structures of the teeth, has been increasingly recognized for its association with various systemic diseases. Understanding the molecular comorbidities of periodontal disease is crucial for elucidating shared pathogenic mechanisms and potential therapeutic targets. In this study, we conducted comprehensive literature and biological database mining utilizing tools such as DisGeNET2R, Romin, and Rentrez R libraries to identify diseases sharing associated genes, proteins, or molecular pathways with periodontitis. Our analysis revealed significant molecular overlaps between periodontal disease and several systemic conditions, including cardiovascular diseases, diabetes mellitus, rheumatoid arthritis, and inflammatory bowel diseases. Shared molecular mechanisms implicated in the pathogenesis of these diseases and periodontitis encompassed dysregulation of inflammatory mediators, immune response pathways, oxidative stress pathways, and alterations in the extracellular matrix. Furthermore, network analysis unveiled key hub genes and proteins that play pivotal roles in the crosstalk between periodontal disease and its comorbidities, offering potential targets for therapeutic intervention. Insights gained from this integrative approach shed light on the intricate interplay between periodontal health and systemic well-being, emphasizing the importance of interdisciplinary collaboration in developing personalized treatment strategies for patients with periodontal disease and associated comorbidities.

The generation of forensic DNA profiles consisting of single nucleotide polymorphisms (SNPs) is now being facilitated by wider adoption of next-generation sequencing (NGS) methods in casework laboratories. At the same time, and in part because of this advance, there is an intense focus on the generation of SNP profiles from evidentiary specimens for so-called forensic or investigative genetic genealogy (FGG or IGG) applications. However, FGG methods are constrained by the algorithms for genealogical database searches, which were designed for use with single-source profiles, and the fact that many forensic samples are mixtures. To enable the use of two-person mixtures for FGG, we developed a workflow, MixDeR, for the deconvolution of mixed SNP profiles. MixDeR, a flexible and easy to use R package and Shiny app, processes ForenSeq Kintelligence® (QIAGEN, Inc.) SNP genotyping results and directs deconvolution of the profiles in EuroForMix (EFM). MixDeR then filters the EFM outputs to produce inferred single-source genotypes in reports formatted for use with GEDmatch® PRO. An optional MixDeR output includes metrics that assist with testing and validation of the workflow. As the Shiny app provides a graphical user interface and the software is designed to be run offline, MixDeR should be suitable for use by any laboratory developing FGG capabilities, no matter their bioinformatic resources or expertise.

Growth factor receptor-bound protein 2 (GRB2) is a negative regulator of insulin signaling and positive regulator of angiogenesis. Its expression is increased in a mouse model of retinal neovascularization and in patients with type 2 diabetes mellitus (T2DM). This case-control study aimed to investigate the association between the rs9896052 polymorphism (A>C) upstream of GRB2 and proliferative diabetic retinopathy (PDR) in patients with T2DM from Southern Brazil, taking into consideration self-reported skin color (white or non-white) and the known duration of diabetes (< 10 years or ≥ 10 years). Genotypes were determined using real-time PCR in 838 patients with T2DM (284 cases with PDR and 554 controls without DR). In the total study group and in the analysis stratified by skin color, the genotype and allele frequencies were similar between the cases and controls. However, among patients with less than 10 years of diabetes, the C allele was more frequent in cases than in controls (63.3% versus 51.8%, p = 0.032), and the CC genotype was independently associated with an increased risk of PDR (adjusted OR = 2.82, 95% CI 1.17-6.75). In conclusion, our findings support the hypothesis that the rs9896052 polymorphism near GRB2 is associated with PDR in Brazilian patients with T2DM.

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities with age and greater disease severity. FSHD is a disabling condition, and patients may also present with various extramuscular symptoms. FSHD is caused by the aberrant expression of double homeobox 4 (DUX4) in adult skeletal muscle, arising from compromised epigenetic repression of the D4Z4 array. DUX4 encodes the DUX4 protein, a transcription factor that activates myotoxic gene programs to produce the FSHD pathology. Therefore, sequence-specific oligonucleotides aimed at reducing DUX4 levels in patients is a compelling therapeutic approach, and one that has received considerable research interest over the last decade. This review aims to describe the current preclinical landscape of oligonucleotide therapies for FSHD. This includes outlining the mechanism of action of each therapy and summarizing the preclinical results obtained regarding their efficacy in cellular and/or murine disease models. The scope of this review is limited to oligonucleotide-based therapies that inhibit the DUX4 gene, mRNA, or protein in a way that does not involve gene editing.

Pregnancy planning and genetic testing (PPGT) has emerged as a tool in reproductive healthcare, offering parents-to-be insight in their risks of having a child with a genetic disorder. This paper reviews the advantages, drawbacks and challenges associated with PPGT, providing some practical guidance for health care professionals. Advantages include identification of genetic risks, a possibility to informed reproductive decision-making, and the potential to reduce the parents-to-be risk for an affected child. Challenges and drawbacks include provision of service, ethical considerations, genetic counselling complexities, and the need to increase public and professional awareness by comprehensive education and accessibility. Practical guidance involves considerations for selecting appropriate candidates, counselling strategies, and how to integrate PPGT into existing healthcare frameworks. By addressing these factors, PPGT can offer an increased reproductive informed choice for the individual and the couple reducing the burden of disease in the family.

Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. Despite recent advances in our understanding of the genetic and molecular pathophysiology of X-linked and autosomal recessive CGD, and growth in the availability of functional and genetic testing, there remain significant barriers to early and accurate diagnosis. In the current review, we provide an up-to-date summary of CGD pathophysiology, which underpins methods of diagnostic testing for CGD and closely related disorders. We present an overview of the benefits of early diagnosis and when to suspect and test for CGD. We discuss current and historical methods for functional testing of NADPH oxidase activity, as well as assays for measuring protein expression of NADPH oxidase subunits. Lastly, we focus on genetic and genomic methods employed to diagnose CGD, including gene-targeted panels, comprehensive genomic testing and ancillary methods. Throughout, we highlight general limitations of testing, and caveats specific to interpretation of results in the context of CGD and related disorders, and provide an outlook for newborn screening and the future.

Understanding whether the long-term follow-up (LTFU) system is working for families is critical to measuring the success of newborn screening (NBS) and understanding why some families are lost to follow-up. Caregivers were recruited from six pediatric specialty care clinics. Data was gathered from caregivers via six focus groups (n=24) and open-ended responses on a survey (n=33). Caregiver participants represented a wide range of NBS-related conditions and children’s ages. While this is not the first study to gather caregivers’ input, it is unique in its breadth of perspectives (e.g., metabolic, endocrine, hemoglobinopathy, etc.) and its focus on LTFU. When asked about goals for their children, caregivers identified health-related goals (i.e., ability for children to care for themselves, not being hindered by diagnosis) and non-health related goals (i.e., defining themselves outside of disease, participating in sports, making friends). In qualifying the LTFU care they want and need for their child and the key factors that influence access and engagement, caregivers identified three themes: communication and relationships with providers; care team roles and factors; and care access and utilization factors. The themes identified are not disjoint; they are intertwined and collectively illustrate the lived experiences of families at the epicenter of LTFU care.

Background/Objectives: To assess the prevalence of diamine oxidase (DAO) enzyme deficiency caused by single nucleotide polymorphisms (SNPs) of the AOC1 gene in a sample of patients with symptoms of insomnia. Methods: A total of 167 adult patients (&gt; 18 years of age) with symptoms of insomnia attended in a specialized institute for healthy sleep, in Barcelona (Spain) between May and November 2023, underwent genotyping analysis of the four most relevant SNP variants, including c.691G&gt;7 (rs2052129), c.47C&gt;T (rs10156191), c.995C&gt;T (rs1049742), and c.1990C&gt;G (rs1049793). Results: Genetic DAO deficiency was present in 138 patients, with a prevalence rate of 82.6% (95% CI 76-88.1%). Difficulties in staying asleep was the most common complaint in 88% of patients followed by trouble falling asleep in 60.5%. More than half of patients suffered from insomnia symptoms every day. Also, 99.4% reported daytime consequences of insomnia, with fatigue (79.6%), mood changes (72.5%), and impaired concentration in 70.1%. When patients were grouped by DAO-score, which reflected the number of heterozygous and homozygous SNPs variants, the group with a DAO-score ≥ 4 vs. 1 showed higher percentages of insomnia-related symptoms, in particular trouble staying asleep and early morning awakening. These two symptoms were also more common in the presence of the c.1990C&gt;G (rs1049793) variant. Conclusions: This preliminary real-world study presents novel evidence of a potential link between DAO enzyme deficiency of genetic origin and clinical symptoms of insomnia may suggest the potential benefit of DAO supplementation to improve the quality of sleep in these subjects.

Acute Myeloid Leukemia (AML) is a diverse malignancy originating from myeloid progenitor cells, with significant genetic and clinical variability. Modern classification systems like those from the World Health Organization (WHO) and European LeukemiaNet use immunophenotyping, molecular genetics, and clinical features to categorize AML subtypes. This classification highlights crucial genetic markers such as FLT3, NPM1 mutations, and the MLL-AF9 fusion, which are essential for prognosis and directing targeted therapies. The MLL-AF9 fusion protein is often linked with therapy-resistant AML due, highlighting the risk of relapse due standard chemotherapeutic regimes. In this sense, factors like the ZEB, SNAI, and TWIST gene families, known for their roles in epithelial-mesenchymal transition (EMT) and cancer metastasis, also regulate hematopoiesis and may serve as effective therapeutic targets in AML. These genes contribute to cell proliferation, differentiation, and extramedullary hematopoiesis, suggesting new possibilities for treatment. Advancing our understanding of the molecular mechanisms that promote AML, especially how the bone marrow microenvironment affects invasion and drug resistance, is crucial. This comprehensive insight into the molecular and environmental interactions in AML emphasizes the need for ongoing research and more effective treatments.

In recent years, the research community has been interested in members of the Acinetobacter genus mainly because of their role as causative agents of nosocomial infections. However, this rich-in-species genus has been proven to play a significant role in different biotechnological processes, such as bioremediation and fermented foods production. To partially fill the lack of information on Acinetobacter’s dualistic nature, in this review, based on literature data, we attempt to summarize the available information on the different roles the members of the genus play by considering their genetic constitution and metabolic properties. We found pieces of evidence of genetic divergence between the pathogenic and non-pathogenic species and strains, which can be explained by their high adaptability to the different ecological niches. In turn, this adaptability could result from intrinsic genetic variability due to mechanisms of horizontal genetic transfer, as well as high mutability determined by the expression of error-prone DNA polymerases. Yet, further studies are needed, especially whole-genome sequencing of non-pathogenic isolates, which for the moment are relatively scarce.

The dawn of quasispecies theory revolutionized our understanding of viral evolution and pathogenesis. This theory conceptualises viruses as dynamic populations of closely related but genetically diverse variants that constantly mutate and adapt to environmental pressures. Quasispecies dynamics govern key aspects of virus-host interactions, such as adaptive evolution, immune evasion, drug resistance, and host tropism. In this article, we discuss the fundamental role of quasispecies theory in elucidating viral fitness landscapes, shaping antiviral strategies, and predicting viral emergence and evolution. We provide a concise overview of the original quasispecies model and its latest advancements, which enable the study of the connection between viral dynamics and the significant genetic diversity exhibited by viruses. We then point out some key features of virus dynamics that need to be incorporated into quasispecies theory. We continue with examples of convergence between theory and real viruses by discussing theoretical results supported by RNA virus data and vice versa. Next, we discuss the need to extend the concept of sequence space beyond the classical hypercube towards more complex, multidimensional connected sequence spaces that we have called ultracubes. Finally, we highlight the necessity of developing multi-scale models to understand how viral evolutionary dynamics within a host can affect epidemiological patterns. We also examine the limitations of quasispecies theory in predicting virus evolution and emergence.

This study explored the intricate nexus between public service provision and land use planning, with a specific focus on the conservation of local plant species in Tambon Khao Phanom, Amphoe Khao Phanom, Krabi Province. Rooted in commitment. The research framework encompasses three fundamental activities: resource survey and collection, resource conservation and utilization, and resource development planning for public services, emphasizing land use planning for local plant species conservation. This multidisciplinary approach integrates the one-map method and draws data from the Department of Land Development to formulate a comprehensive land utilization plan that optimizes land use for biodiversity conservation. This study underscores the critical synergy between public service delivery and land use planning, highlighting their collective potential to advance community well-being and sustainable development.

Epilepsy is a non-communicable neurological disease characterized by abnormal brain activity with conceivable peripheral implications. Few studies examine the role of peripheral and brain inflammation in the relationship between seizure predisposition and nonalcoholic fatty liver disease. Severe early-life infections leading to sepsis results in increased inflammation that can aggravate epilepsy and hepatic damage progression both associated with increased odds for hospital admissions in epileptic patients. Here, we examined the effect of early LPS challenge (1 mg/kg, i.p. at post-natal day3, PND3) in inducing hepatic damage in a genetic model of young epileptic WAG/Rij rats (PND45), evaluating the intra- and inter-gender differences on systemic and liver inflammation, hepatic lipid dysmetabolism and oxidative damage associated to mitochondrial functional impairment. First, epileptic rats exposed to LPS, regardless of gender, displayed increased serum hepatic enzymes and altered lipid profile. Early LPS challenge induced a major inflammatory and immune response in male epileptic rats than females in both serum and liver, increasing pro-inflammatory cytokines and hepatic immune cell recruitment. Conversely, LPS-insulted females showed a marked alteration in hepatic metabolic and lipid profile and the reduction in mitochondrial fatty acid oxidation. The two different gender-related mechanisms of LPS-induced liver injury converge in mitochondrial oxidative damage with intensified ROS production in both sexes, that notably induced a compensatory increase in antioxidant defense only in females. Our study with a translational potential points out that early postnatal infections predispose epileptic rats to develop or worsen hepatic disorders in a sex-dependent manner, amplifying inflammation, lipid dysmetabolism, and mitochondrial impairment.

(1) Selecting high-quality varieties with disease resistance by crossbreeding artificially is the most fundamental way to address the damage caused by Calonectria spp in eucalypt plantations. However, understanding the mechanism of the formation of disease-resistant heterosis in eucalypt is crucial for the success of crossbreeding. (2) Two eucalypt hybrids, susceptible EC333 (H1522 × unknown) and resistant EC338 (W1667 × P9060) were screened in our previous study on the infection of the isolates of Calonectria., which causes eucalypt leaf blight. RNA-Seq sequencing was performed on susceptible hybrid EC333, disease-resistant hybrid EC338 (W1667 × P9060), and their parents. A comparison was conducted between the the transcriptomic data sequenced and the reference genome of Eucalyptus grandis, and the The differential expression of genes and functional annotations between hybrids and parents was identified. (3) Gene differential expression analysis shows that there are 3912 differentially expressed genes between EC333 and EC338, with 1631 up-regulated and 2281 down-regulated. The expression trends of differential gene sets in P9060 and EC338 were similar. However, the expression trend of W1767 was opposite that of EC338. The similarity of expression levels and the advantage of stress resistance of E. pellita suggested that genes with significant differences in expression are likely to be related to disease resistance. The GSEA enrichment based on GO annotation revealed that the carbohydrate binding pathway (GO:0030246) is differentially expressed between EC338 and EC333. The gene pathway that differentially expressed between EC338 and EC333, was revealed by GSEA enrichment based on KEGG annotation, is Sesquiterpenoid and Triterpenoid biosynthesis (EGR00909). The Alternative Splicing analysis demonstrated that the AS events gene between EC338 and EC333 is LOC104426602. According to SNP analysis, EC338 has 626 more high-impact mutation loci than the male parent P9060, and 396 more than the female parent W1767, the maternal parent W1767 has 259 more mutation loci in the downstream region than EC338, while the male parent P9060 has 3107 fewer mutation loci in the downstream region than EC338. Additionally, EC338 has 9631 more mutation loci in the exon region than EC333. These findings suggested that the genetic pathways, specific gene regions, and their quantities might play crucial roles in the formation of heterosis linked to the resistance against eucalypt leaf blight. The modules were found in WGCNA, which were strongly and oppositely correlated with EC338 and EC333, such as module MEsaddlebrown is likely to be associated with leaf blight resistance. (4) The present study provides a detailed explanation of the genetic basis for the heterosis of resistance to eucalypt leaf blight, providing a basis for exploring genes related to resistance to eucalypt leaf blight.

A total of 27 microsatellites markers , scattered all over the genom of barley, were used for characterization,and diversity analysis in 33 barley (Hordeum vulgare L.) accessions and cultivars of Algeria.Over the 27 genetic loci studied, 110 alleles were identified with a mean of 4.1 alleles per locus and the average polymorphism information content (PIC) of 0.46,the marker Ebma0806 showed the greatest value of PIC with 0.83.Genetic diversity at 27 microsatellite loci varied from 0 to 0.84 (Mean=0.50) for 33 Algerian cultivars. The genetic distance among the cultivars ranged from 0.2 to 0.85. Cluster analysis and principal coordinate analysis (PCoA) based on the SSR data clearly differentiate the all genotypes studied.

A significant challenge encountered in mmWave and Sub-terahertz systems used in 5G and 1 the upcoming 6G networks is the rapid fluctuation in signal quality across various beam directions. Extremely high-frequency waves are highly vulnerable to obstruction, making even slight adjustments in device orientation or the presence of blockers capable of causing substantial fluctuations in link quality along a designated path. This issue poses a major obstacle because numerous applications with low-latency requirements necessitate precise forecasting of network quality from many directions and cells. The method that is proposed in this research demonstrates an avant-garde approach for assessing the quality of multi-directional connections in mmWave systems by utilizing the Liquid Time Constant network (LTC) instead of the conventionally used Long Short-Term Memory (LSTM) technique. The method’s validity was tested through an optimistic simulation involving the monitoring of multi-cell connections at 28 GHz in a scenario where humans and various obstructions were moving arbitrarily. The results with LTC are significantly better than those obtained by conventional approaches such as LSTM. The latter resulted in a test Root Mean Squared Error (RMSE) of 3.44 dB, while the former, 0.25 dB, demonstrating a 13-fold improvement. For better interpretability and to illustrate the complexity of prediction, an approximate mathematical expression is also fitted to the simulated signal data using Symbolic Regression.

In many parts of the Asia, particularly in the arid regions of the middle east the date palm i.e. Phoneix dactylifera L. is considered a significant plant both culturally and economically. Over the past decade numerous biotechnological tools have been applied to revolutionize the date palm research and its cultivation process. In this comprehensive review ,we provided the in depth overview of the cutting edge developments in the date palm biotechnology, mentioning the important areas such as genomics, genetic engineering, in vitro propagation, omics technologies, and the integration of the artificial intelligence and machine learning (AI-ML).Due to these advancements ,in the date palm production how the date palm production lead the production of superior date palm cultivars with the improved yield ,fruit quality and resilience to biotic and abiotic stresses. Also it explores the application of the biotech tools in the enhancing pest and disease management strategies, increasing date palm productivity and developing the date palm based bio-factories for the production of high value compounds. This review highlights the current challenges faced by the date palm industries ,including the limited water resources ,genetic erosion , pests and disease and the need for improved postharvest handling and processing. It examines how these tools coupled with AI-based approaches can be leveraged to address these challenges and ensure the long term sustainability of date palm cultivation.

Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disorder, affecting 1:1,000,000 population. It results from pathogenic variants in the PLA2G6 gene located on chromosome (22q13.1). The onset of symptoms usually occurs between 6 to 18 months, causing developmental regression leading to debilitating symptoms such as muscle weakness, dementia, and loss of basic skills. Eventually, it progresses to life-threatening symptoms including breathing difficulties, which limits the life expectancy to 5-10 years. While potential genetic therapy for treatment is are being developed, they are yet to be approved for use, and management remains essentially supportive. This case report is of a 9-year-old Pakistani girl with INAD. She presented with recurrent chest infections, developmental regression, loss of speech, paralysis, hypertension, and eventually breathing difficulties. Brain magnetic resonance imaging and genetic testing con-firmed the diagnosis. This case posed diagnostic challenges in view of its overlapping clinical presentation. Through this report, we aim to raise awareness about the condition among practitioners, outline the importance of genetic counseling in susceptible couples and suggest potential areas of further research.

Serum biochemical indicators serve as vital proxies that reflect the physiological state and functions of different organs. The genetic parameters and molecular mechanisms underlying serum biochemical indicators of sheep (Ovis aries) have not been well understood. Therefore, the aim of the present study was to identify genetic architecture and genomic loci underlying ten serum biochemical indicators in sheep, including alanine transaminase, aspartate transferase, lactate dehydrogenase, cholesterol, glucose, phosphorus, calcium, creatinine, urea concentrations and total protein levels. We implemented genetic parameter estimations and GWAS for each trait in 422 Akkaraman lambs. Overall, low to moderate heritability estimates were found, in the range 0.14–0.55. Additionally, low to high genetic correlations were observed among traits. In total, 23 SNP loci were associated with serum biochemical indicators leading to 19 genes . These are SPTA1, MGST2, CACUL1, IGFBP7, PARD3, PHB1, SLC15A5, TRIM35, RGS6, NUP93, CNTNAP2, SLC7A11, B3GALT5, DPP10, HST2ST1, NRP1, LRP1B, MAP3K9, ENSOARG00020040484.1 as well as LOC101103187, LOC101117162, LOC105611309 and LOC101118029. To our knowledge, these data provide the first association between SPTA1 and serum cholesterol and between ENSOARG00020040484.1 and serum glucose. The current findings provide a comprehensive inventory of the relationships between serum biochemical parameters, genetic variants, and disease-relevant characteristics. This information may facilitate the identification of therapeutic targets and fluid biomarkers and establish a strong framework for comprehending the pathobiology of complex diseases as well as providing targets for sheep genetic improvement programmes.

Since the first reported case of COVID-19 in December 2019, several SARS-CoV-2 variants has evolved and some of them have shown higher transmissibility becoming the prevalent strains. Genomic epidemiological investigations into strains from different time points including the early stages of the pandemic are very crucial for understanding the evolution and transmission patterns. Using whole genome sequences, our study describes the early landscape of SARS-CoV-2 variants in central India retrospectively (including the first known occurrence of SARS-CoV-2 in Madhya Pradesh). We performed amplicon based whole genome sequencing of randomly selected SARS-CoV-2 isolates (n=38) collected between 2020-2022 at state level VRDL, ICMR-NIRTH, Jabalpur from 11899 RT-qPCR positive samples. We observed the presence of five lineages namely B.1, B.1.1, B.1.36.8, B.1.195 and B.6 in 19 genomes from the first wave cases and variants of concern (VOC) lineages i.e. B.1.617.2 (Delta), and BA.2.10 (Omicron) in the second wave cases. There was a shift in mutational pattern of SRAS-CoV-2 strains from the second wave in contrast to the first wave. We have identified five immune escape variants in the S gene: P681R, P681H, L452R, Q57H, and N501Y in the isolates collected during the second wave. Furthermore, these genomes were compared with 2160 complete genome sequences reported from central India that encompass 109 different SARS-CoV-2 lineages. Among them, VOC lineages Delta (28.93%), and Omicron (56.11%) were circulating predominantly in this region. This study provides useful insights into the genetic diversity of SARS-CoV-2 strains over the initial course of the COVID-19 pandemic in central India.

This study is based on the BP neural network regression model optimised by genetic algorithm and dedicated to predicting the amount of car purchase, this study is important for all parties in the automotive industry. By plotting the violins of six indicators, including gender, age, annual salary, credit card debt, net worth, and car purchase amount, we found that, except for gender, the other data showed a trend of dense in the middle gradually decreasing to the upper and lower sides, with an overall normal distribution. The correlation analysis shows that the amount of car purchase has a high positive correlation with age (0.63), followed by annual income (0.62), the correlation between net worth and the amount of car purchase is 0.49, while the correlation between credit card debt and the amount of car purchase is low (0.03). In the experimental part, we analyse the predicted-actual values of the training and test sets in comparison and find that the model predicted values are very close to the actual values. The RMSE of the training set is 11.559 and the RMSE of the test set is 11.4835, which is not much different from each other, indicating that the model has good generalisation ability. In addition, the R2 of both the training and test sets is 1, indicating that the model fits well. The MAE of the training set is 8.2512 and the MAE of the test set is 9.578; the MBE of the training set is -4.3035 and the MBE of the test set is -2.4547.These metrics indicate that the model performs well in predicting the amount of car purchase. In conclusion, this study provides an effective and reliable method to predict the amount of car purchase, creating a useful bridge between car manufacturers, dealers and consumers.

We evolve our past models PYR, Loukeris, et al. (2016) to provide a competitive system whose infiltration of categorical information and fundamentals into advanced higher moments, supports a more objective Portfolio Selection, aided by Intelligent Computing. The system of Portfolia Yield Reactives (PYR) searches for hidden prototypes into big data of accounting and financial statements, restricting malicious patterns such as hoax, noise, manipulation, incorporated to a novel optimal portfolio selection method.

Without an established energy management plan, human lifestyle improvement is incomprehensible. Adequate energy assets are the key to human lifestyle development, however, energy assets are restricted and exorbitant too. In this paper, an energy control system for a green environment called PMC (Power Management and Control) is proposed. The system is based on hybrid energy optimization, energy prediction, and multi-preprocessing. The blend of GA (Genetic Algorithm) and PSO (Particle Swarm Optimization) is utilized to make a fusion methodology to improve occupant comfort index (OCI) and decrease energy utilization. The main theme of the proposed PMC technique is to improve OCI and decrease energy utilization. The proposed framework gives better OCI when compared with its counterpart Ant Bee Colony along with Knowledge Base framework (ABCKB), GA-based prediction framework (GAP), Hybrid Prediction with Single Optimization framework (SOHP), and PSO-based power consumption framework. Compared with the existing AEO framework, the proposed PMC methodology gives practically the same OCI, but consumes less energy. The proposed PMC methodology additionally accomplished the most extreme OCI (i-e 1) when compared with the existing model FA-GA (i-e 0.98). The proposed PMC model consumed less energy as compared to existing models ABCKB, GAP, PSO and AEO. The proposed model consumed more energy than SOHP but provided better OCI. The comparative outcomes show the viability of the proposed PMC framework in lessening energy utilization and improving the OCI. Unlike other existing mythologies except for the AEO framework, the proposed PMC technique is additionally confirmed through a simulated climate by controlling indoor climate using actuators, like Fan, light, AC and boiler.

Mango (Mangifera indica L.) is an allotetraploid (2n = 4X= 40) drupe fruit and has high nutritional value belongs to genus Mangifera and family Anacardiaceae. Mango cultivars are used with worldwide acceptance to pharmacological, ethnomedical, and phytochemical industries. Assessment of the genetic distinctiveness of a cultivar through morphological descriptors is an important tool for both the registration and the protection. New mango genotypes have been improved using valuable diverse germplasm resources to ensure food security. DNA fingerprinting based simple sequence repeats (SSR)-markers have been the most broadly used, effective and accurate in evaluation of genetic characterization of a cultivar. Molecular breeding is an effective source of genetic gain after improvement of fruit trees using marker assisted genomic selection. Total genomic DNA (gDNA) was generated using CTAB method from each cultivar. The most effective 50 hyper-variable SSR markers were selected. Highly specific DNA fingerprints were identified in the candidate line ‘Azeem Chaunsa’ compared with three standard cultivars using SSR-PCR. An agglomerative hierarchical clustering method was used to construct dendrogram based on the UPGMA clustering method. Cultivar identification diagram (CID) was constructed to evaluate association among standard cultivars and Azeem Chaunsa. Our results showed that SSR markers could efficiently assess genetic diversity in mango. The genetic similarity coefficients were recorded between the cultivars of mango ranged from 0.49 to 0.67. CID results concluded that cultivar ‘Azeem Chaunsa’ varied significantly from the check cultivar, Sindhri (46.2%), S.B Chaunsa (45%) and Sufaid Chaunsa (46.7%). The results obtained in this study will orient cultivar identification strategies for a successful future.

Evolutionary algorithms and swarm intelligence algorithms find applicability in reinforcement learning of neural networks due to their independence from gradient-based methods. To achieve successful training of neural networks using these algorithms, careful considerations must be made to select appropriate algorithms due to the availability of various algorithmic variations. In Part1, the author previously reported experimental evaluations on Evolution Strategy　for reinforcement learning of binary neural networks, utilizing the Pendulum control task. This article constitutes Part2 of the series of comparative research. In this study, Genetic Algorithm is adopted as another evolutionary algorithm. Wilcoxon signed rank test revealed that there was no statistically significant difference between the fitness scores obtained using GA and those using ES. However, the p-value 0.11 indicated that GA worked better than ES on this training task. As the values of binary weights, {-1, 1} were significantly superior to {0, 1} (p < .01). The motion of the pendulum controlled by the binary MLP after the training showed that the binary MLP successfully swung the pendulum swiftly into an inverted position and maintained its stability after inversion.

Autism Spectrum Disorder (ASD), a neurodevelopmental disorder, is increasingly diagnosed and significantly affects communication, behavior, and social interaction. The current diagnostic framework, guided by the DSM-5, has limitations that may lead to clinical gaps due to overlapping symptoms of ASD and other disorders. This study proposes a comprehensive approach to enhance ASD diagnosis through clinical stratification based on comorbidities. We applied precision medicine techniques to identify and categorize ASD into ten clinical profiles. Our findings contribute to a more profound understanding of ASD, including its varied clinical manifestations and comorbidities, and facilitate the development of personalized therapeutic strategies.

The Arabian Peninsula with its rugged mountains, wadis, alluvial plains, sand dune deserts, and diverse coastlines span over 3 million square kilometres. The Peninsula is situated at the crossroads of Africa and Asia and is a meeting point for diverse biogeographic realms, including the Palearctic, Afrotropical, and In-domalayan regions. This convergence of biogeographic zones has resulted in a remarkably diverse flora and fauna, which is adapted to the harsh and varied climates found throughout the Peninsula. Each of the coun-tries of the Arabian Peninsula are biologically diverse and unique in their own rite, but Yemen, Saudi Arabia and Oman are the most diverse in terms of their landforms and biological diversity. The mountainous regions support a cooler and more moderate climate compared to the surrounding lowlands, thus forming unique ecosystems that function as refugia for plant and animal species and have a high endemism of plant species. The desert ecosystems support a variety of life that are specially adapted to an extreme arid climate. Due to its long history of human habitation and subsistence agriculture, particularly in the mountainous areas, the Arabian Peninsula possesses unique crop varieties adapted to extreme arid climates, making them important genetic resources for the future in the face of climate change. The Arabian Peninsula, though rich and diverse in its biological diversity, has been greatly affected by human activities especially in the last 50 years, including urbanization, habitat destruction, overgrazing, and climate change; these pose significant threats to the biodiversity of the region.

Direct competitions involve competitors that mutually contend for the same resource or objective. A controlled, well-documented, and data-rich field involving direct competition is represented by sports. Usually the winner of sports competitions is believed to be the one with the greatest talent, however, there are other factors that contribute to the outcome of a competition, there are in fact random, unpredictable events that can change the outcome of a competition. For this reason, if one wants to understand the properties of a competition is necessary to have a method to evaluate the importance of the talent or aptitude of a competitor, as opposed to the importance of chance, in determining the outcome of the competition itself. In this work we study the sport of tennis using the data obtained from the Association of Tennis Professionals (ATP) tournaments. We construct an agent-based model that is able to produce data analogous to the real one; this model depends on three parameters, the talent, the action of chance, and the weight of talent. In particular, we don't fix the values of these parameters and we fit the model results using a genetic algorithm, in this way, we study all the possible combinations of parameters, in the parameter space, that are able to reproduce the real systems data. We show that the model fits well the real data only for limited regions of the parameter space. On these limited regions of the parameter space are possible further optimization of the model results, limiting the values of parameters. In this way, our agent-based model, by means of this genetic algorithm calibration, is able to provide us with useful information without any a priori constraints.

This study aims to automate the optimization of a Full-Range speaker in an SUV's audio system according to the equal loudness contours principle. The input signal, and frequency responses of the amplifier and speaker were transferred to Matlab. Using ideal filter parameters, ten parametric equalizer models were created, and the speaker output was obtained using the convolution technique. The same filter settings were applied to the vehicle multimedia system, and experimental results were obtained. The simulation and experimental results were compared, showing high similarity with a Pearson correlation coefficient of 0.9295 and an RMSE of 2.29. Results were compared with the ideal contour. The Pearson correlation coefficients for simulation and experimental results were 0.6341 and 0.6715, with RMSE values of 4.88 and 2.57, showing low similarity. Consequently, each parametric equalizer filter's parameters were optimized using a genetic algorithm. The optimized parameters were applied to the vehicle multimedia system, and results were compared with the ideal contour. The Pearson correlation coefficients for simulation and experimental results were 0.965 and 0.9661, with RMSE values of 2.12 and 1.48. These results indicate that optimization aligns the speaker output closer to the ideal contour, enhancing in-vehicle audio system performance and increasing user satisfaction.

Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as possibly contributing to the severe infection phenotype(s); however, the findings are complex and appear to be population-dependent. We aimed to determine the contribution of human rare genetic variants associated with a severe outcome of SARS-CoV-2 infections and their burden in the Slovenian population. A panel of 517 genes associated with severe SARS-CoV-2 infection were obtained through an extensive review of the literature, and additionally included target genes identified by the COVID-19 Host Genetic Initiative, as well as the curated Research COVID-19 associated genes from PanelApp, England Genomics. Whole genome sequencing was performed using PCR-free WGS on DNA from 60 patients hospitalized due to severe COVID-19 disease, and the identified rare genomic variants were analyzed and classified according to the ACMG criteria. Background prevalence in the general Slovenian population was determined by comparison with sequencing data from 8025 individuals included in the Slovenian genomic database (SGDB). Results show that several rare pathogenic/likely pathogenic genomic variants in genes CFTR, MASP2, MEFV, TNFRSF13B, and RNASEL likely contribute to the severe infection outcomes in our patient cohort. These results represent an insight into the Slovenian genomic diversity associated with severe COVID-19 outcome.

A surprising insight from the advent of genomic sequencing was that many genes are deeply conserved during evolution. With a particular focus on genes that interact with light in animals, I explore the metaphor of genetic toolkits, which can be operationalized as lists of genes involved in a trait of interest. A fascinating observation is that genes of a toolkit are often used again and again during convergent evolution, sometimes across vast phylogenetic distances. Such a pattern in the evolution of toolkits requires three different stages: origin, maintenance, and redeployment of the genes. The functional origins of toolkit genes might often be rooted in interactions with external environments. The origins of light interacting genes in particular may be tied to ancient responses to photo-oxidative stress, inspiring questions about the extent to which the evolution of other toolkits were also impacted by stress. Maintenance of genetic toolkits over long evolutionary timescales requires gene multifunctionality to prevent gene loss when a trait of interest is absent. Finally, the deployment of toolkit genes in convergently evolved traits like eyes sometimes involves the repeated use of similar, ancient genes but other times involves different genes specific to each convergent origin. How often a particular gene family is used time and again for the same function may depend on how many possible biological solutions are available. When few solutions exist and are maintained, evolution is constrained to use the same genes over and over. However, when many different solutions are possible, the innovative possibilities of evolution are often on display. Therefore, a focus on genetic toolkits highlights the combination of legacy plus innovation that drives the evolution of biological diversity.

Species identification and phylogenetic relationships clarification are fundamental goals in species delimitation. Yet these tasks pose challenges when based on morphologies, geographic distribution, and genomic data. Previously, two new species of fern genus Bolbitis, B. × multipinna and B. longiaurita, were described based on morphological traits, are phylogenetically intertwined with B. sinensis and fail to form monophyletic groups. To address the unclear phylogenetic relationships within the B. sinensis species complex, RAD sequencing was performed on 65 individuals from five populations. Our integrated analysis of phylogenetic tree, neighbor net, and genetic structure, indicate that the B. sinensis species complex should not be considered as separate species. Moreover, our findings reveal differences in the degree of genetic differentiation among five populations, ranged from low to moderate, which might be influenced by geographical distance and gene flow. The Fst values also confirmed that genetic differentiation intensifies with increasing geographic distance. Collectively, this study clarifies the complex phylogenetic relationships within the B. sinensis species complex, elucidates the genetic diversity and differentiation across the studied populations, and offers valuable genetic insights that contribute to the broader study of evolutionary relationships and population genetics within the Bolbitis species.

The World Health Organization declared the coronavirus disease 2019 (COVID-19) pandemic in 2020, following which a global genetic vaccination program has been rapidly implemented as a fundamental solution. However, it has been reported worldwide that the modified mRNAs encoding spike proteins and lipid nanoparticles, which are used as drug delivery systems, not only cause thrombosis and cardiovascular disorders post vaccination, but might also cause diverse diseases involving all organs and systems, including the nervous system. Furthermore, the toxicity and pathogenicity of spike proteins may necessitate defining these proteins as nonbiological infective material. Based on these reports and the abundant evidence that has come to light in the past few years, this paper aims to draw the attention of medical professionals to the various risks associated with transfusion using blood products derived from long COVID patients or from genetic vaccine recipients, and to make proposals regarding specific inspection items, testing methods, regulations, etc. This paper provides insights to address the post-vaccination syndrome and its consequences following such genetic vaccination programs.

Acute lower respiratory tract infection is a major health problem that affects more than 15% of the total population of Saudi Arabia each year. Epidemiological studies conducted over the last three decades have indicated that viruses are responsible for the majority of these infections. The epidemiology of respiratory viruses in Saudi Arabia is believed to be affected mainly by the presence and mobility of large numbers of foreign workers and the gathering of millions of Muslims in Mecca during the Hajj and Umrah seasons. Knowledge concerning the epidemiology, circulation pattern, and evolutionary kinetics of respiratory viruses in Saudi Arabia are scant, with the available literature being inconsistent. After reviewing the available data on epidemiology and evolution of respiratory viruses, this study examines the effect of varying vaccination rates across different age groups during the 2019/2020 influenza season in Saudi Arabia. Utilizing an age-structured SEIR (Susceptible–Exposed–Infectious–Recovered) model, it develops customized vaccination policies by considering age-specific incidence rates. This pioneering research segments the population into five age groups—infants and school-aged children, junior and older youth, young adults and adults, middle-aged, and seniors—across five regional areas in Saudi Arabis: Eastern, Central, Northern, Western, and Southern. A contact matrix, compiled from multiple sources, is used to delineate the dynamics of influenza transmission. The study undertakes a thorough comparison of three distinct vaccination scenarios: no vaccination, national vaccination, and optimized vaccine allocation policy, under various potential pandemic situations. It examines their impact on vaccination campaigns in terms of the total number of infections, mortality, and morbidity rates. The results emphasize the crucial impact of population demographics on disease transmission and vaccine distribution. According to the findings, the optimized vaccination scenario proved to be the most effective strategy in all scenarios.

Clustering is a crucial at the same time challenging task in several application domains. It is important to incorporate the optimum feature finding into our clustering algorithms for getting better prediction accuracy but this is difficult when there is no or little information about the importance or relevance of features. To tackle this task in an efficient manner we employ the natural evolution process inherent in genetic algorithms (GA) to find the optimum features for clustering for the healthy aging dataset. In order to empirically verify the findings, genetic algorithms were combined with a number of clustering algorithms including parti-tional, density based as well as agglomerative. A variant of the popular KMeans algorithm, named KMeans++ gave the best performance on all performance metrics when combined with GA.

Yeasts are gaining increasing attention for their potential health benefits as probiotics in recent years. Researchers are actively searching for new yeast strains with probiotic properties (i.e, Debaryomyces hansenii; Kluyveromyces marxianus; Yarrowia lipolytica; Pichia hudriavzevii; Torulaspora delbrueckii) from various sources, including traditional fermented foods, the human gut, and the environment. This exploration is expanding the pool of potential probiotic yeasts beyond the well-studied Saccharomyces boulardii. Research suggests that specific yeast strains possess properties that could be beneficial for managing conditions like inflammatory bowel disease, irritable bowel syndrome, skin disorders and allergy. Additionally, probiotic yeasts may compete with pathogenic bacteria for adhesion sites and nutrients, thereby inhibiting their growth and colonization. They might also produce antimicrobial compounds that di-rectly eliminate harmful bacteria. To achieve these goals, the approach that uses probiotics for human health is changing. Next-generation yeast probiotics are emerging as a powerful new approach in the field of live biotherapeutics. By using genetic engineering, scientists are able to give these tools specialized capabilities. However, most research on these probiotic yeasts is still in its early stages, and more clinical trials are needed to confirm their efficacy and safety for various health condi-tions. This review could provide a brief overview of the situation in this field.

Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological center of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of the relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the key words: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and “Turner syndrome”; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its etiology. The angular cephalometric measurements differ from the average height normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusion: The greater part of the existing literature regarding cephalometric measurements in short statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature, should be the focus of future studies. These quantitative data are required to potentially establish cut-off values to refer for genetic testing based on craniofacial phenotypes.

Ovarian cancer (OC) represents a significant challenge in the realm of gynecological cancers, characterized by poor survival rates and complex etiology. In this review, we delve into the se-lected genetic, environmental, and hormonal factors underpinning OC development. We have reviewed scientific databases searching for ovarian cancer genetic and epigenetic factors. We have included studies based on their relevancy. As a result of exploring ovarian carcinogen-esis, this systematic review contains data collected from 126 various works. The role of prominent genetic players such as BRCA mutations, DNA repair mechanisms, un-derscores the intricate landscape of OC susceptibility. We explore Li-Fraumeni and Lynch syn-drome, which impart a heightened predisposition to OC development. Hormonal factors such as estrogen, progesterone, and androgens are also discussed. Environmental alterations, ranging from lifestyle influences on OC to microbiome dysbiosis and lifestyle factors such as obesity, al-cohol consumption, and physical activity intersect with genetic and epigenetic pathways, shaping the risk landscape for OC. Through a meticulous examination of current literature, this review provides a nuanced under-standing of the multifactorial nature of OC, emphasizing the need for holistic approaches to prevention, diagnosis, and treatment.

Drought and arsenic contamination pose a serious threat to global rice crop yield. Existing solutions focus on either heavy metal or drought remediation, but not both. Examination of the Oryza sativa metagenome via the National Center for Biotechnology Information (NCBI) database revealed promising candidates within the aquaporin gene family capable of efficiently mitigating both arsenic toxicity and drought stress. Rice cotyledons were genetically augmented with arsenic-resistant OsNIP2;1 and OsNIP3;2 genes, and drought-resistant OsPIP2;2 genes. In moderate drought conditions and 25 ppm arsenic-contaminated soil, transgenic plants showed drought tolerance and reduced translocation of arsenic from root to shoot. Soil arsenic levels plummeted from 25 ppm to 5 ppm, demonstrating the strategy's efficacy. Statistical significance was confirmed using T tests. Thus, aquaporin-augmented Oryza sativa offers a promising solution to mitigate both arsenic and drought stress in rice plants improving crop yield and facilitating soil decontamination.

Plant viral diseases constitute a major contributor to agricultural production losses, significantly impacting the economies of exporting countries by more than $30 billion annually. Understanding and researching the biology and genomics of viruses is crucial for developing virus-resistant, genetically edited or genetically modified plants. Genetic modifications can be targeted to specific regions within genes of target plants which are important or essential for the virus to establish a systemic infection, thus fostering resistance or enabling plants to effectively respond to invading agents while preserving their yield. This review provides an overview of viral incidence and diversity in tropical fruit crops and aims to examine the current state of the knowledge on recent research efforts aimed at reducing or eliminating the damage caused by viral diseases, with emphasis on genetically edited products that have reached the market in recent years.

Background: Galectins are innate immune system regulators, associated with disease progression in cancer. This paper aims to investigate the correlation between mutated cancer-critical genes and galectin levels in breast cancer patients to determine whether galectins and genetic profiles can be used as biomarkers for disease and potential therapy targets. Materials and Methodology: Prisma Health Cancer Institute’s Biorepository provided seventy-one breast cancer patient samples, including all four stages as well as major molecular subtypes and histologies of breast cancer. Hotspot mutation statuses of cancer-critical genes were determined using multiplex PCR in tumor samples from the same patients by Precision Genetics and the University of South Carolina Functional Genomics Core Facility. The galectin levels of patients’ sera were analyzed using enzyme-linked immunosorbent assay (ELISA) to measure the concentrations of galectins-1, -3, and -9. Analysis was performed using JMP software to compare mean and median serum galectin levels between samples with and without specific cancer-critical genes including pooled t-test, Wilcoxon test, ANOVA, Tukey’s range test, and Steel Dwass Method (α=0.05). Results: Our analysis indicates that KIT mutations correlate with elevated serum levels of galectin-1 and -9 in patients with breast cancer. In patients with Luminal A subtype, FLT3 mutation correlates with lower serum galectin-1 and -9 levels and TP53 mutations correlate with higher serum galectin-3 levels. Patients with invasive ductal carcinoma had significantly higher serum galectin-3 levels than patients with ductal carcinoma in situ. Patients with both TP53 and PIK3CA mutations exhibit elevated serum galectin-3 levels, while patients with one or neither mutation show no significant difference in serum galectin-3 levels. In addition, metastatic breast cancer samples were more likely to have KIT or PIK3CA mutation compared to primary breast cancer samples. Conclusion: The relationship between genetic mutations and galectin levels has the potential to identify appropriate candidates for combined therapy, targeting genetic mutations and galectins. Further understanding of the effect of genetic mutations and galectin levels on cancer progression and metastasis could aid in the search for biomarkers for breast cancer diagnosis, disease progression, and prognosis.

Introduction: Parkinson’s disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce. Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (9 homozygous or compound heterozygous PRKN carriers, 4 Heterozygous PRKN carriers and 3 biallelic PINK1 carriers) were evaluated. Results: The average Levodopa Equivalent daily dose (LEDD) was 806.8±453.5 (range 152-1810) in PRKN carriers and 765±96.6 (range 660-850) in PINK1 carriers. The majority responded to low/moderate doses of Levodopa. The response to Dopamine Agonists (DA) was often favorable both as initial and longitudinal therapy. 8/13 PRKN and 1/3 PINK1 carriers were treated with amantadine successfully, and this also applied to patients who could not tolerate Levodopa or DA. Conclusions: In the era of personalized treatment, the therapeutic approach in recessive PD gene carriers might differ as compared to idiopathic PD. Lower LEDD doses were efficient even in patients with a very long disease duration, while a few patients were doing well without any Levodopa treatment decades after disease initiation. DA or amantadine could be used as a first and main line treatment regimen if well tolerated. Literature data on therapeutic strategies in carriers of pathogenic mutations in recessive PD genes, including device-aided treatments will be further discussed.

The advancement of sequencing technology and molecular breeding methods have provided technical support and assurance for accurate breeding. Genomic Selection (GS) utilizes genomic information to improve livestock breeding and, it is more accurate and more efficient than traditional selection methods. GS has been widely applied in domestic animals breeding, especially in cattle. However, there is still limited study on the application and research of GS in sheep and goat. In this paper, we outlined the principle, analysis methods, the influential factors of GS, and elaborated on the research progress, challenges, and prospects of applying GS in sheep and goat breeding. Through the review of these aspects this paper is expected to provide valuable references for the implementation of GS in the field of sheep and goat breeding.

Gilbert's syndrome (GS) is a common hereditary condition characterized by mild increases in serum bilirubin levels due to inherited defects in bilirubin metabolism. This review, based on data from peer-reviewed articles and journals spanning from 1977 to January 2024, provides a comprehensive overview of over four decades of research on GS. Early studies primarily focused on defining the clinical and genetic characteristics of the syndrome, laying the foundation for subsequent investigations. More recent research has delved into the genetic mechanisms underlying the reduced expression of bilirubin UDP-glucuronosyltransferase, which has significantly enhanced our understanding of the pathogenesis of GS. Furthermore, recent studies have shed light on the clinical implications of GS, including its association with non-alcoholic fatty liver disease and mortality risk, highlighting the complex interplay between genetic factors, bilirubin metabolism, and clinical outcomes. Despite its generally benign nature, thorough research is essential to fully understand the impact of GS on patients' lives. This review emphasizes the importance of ongoing research to deepen our understanding of GS and its broader implications.

Fusarium stalk rot (FSR) caused by the Fusarium species complex is an economic threat to maize cultivation all over the world. We investigated the population structure and genetic diversity of Fusarium spp. obtained from five major maize-growing regions of India. The Tef-1α locus was used for phylogenetic analysis of geographically distinct isolates of Fusarium verticillioides, F. andiyazi, F. proliferatum, F. nygamai, and F. acutatum causing FSR. Geographical separation among four local populations contributed to 7.87% variance, whereas 92.12% of the variance was within popula-tions, suggesting a predominant influence of local adaptation or stochastic events like genetic drift within populations, with geographical separation playing a lesser but significant role in shaping genetic diversity. Genetic differentiation statistics between Fusarium species showed lower gene flow from haplotypes except in the population of F. acutatum and F. andiyazi having high GST values. In contrast, a high Kxy was reported, indicating elevated genetic differentiation between populations. The haplotype network analysis revealed the presence of eight distinct haplotypes which reflected pathogenic evolution and adaptive potential of Fusarium spp. The results offer a comprehensive framework for discussing the implications of genetic diversity in pathogen management and the evolutionary dynamics of the Fusarium spp. causing FSR of maize in the Indian subcontinent.

The objective of this study was to evaluate the genetic effects involved on pepper fruit post-harvest water loss, and correlated to morphology traits. Fruits of eight landraces of C. baccatum, and their 28 hybrids, were evaluated in a randomized complete block design. Analysis of variance, diallel analysis, phenotypic and genotypic correlation were performed to compare fruit water loss (WL), width (FW), length (FL), total soluble solids (TSS), dry matter content (DMC), pericarp thickness (PT), cuticle thickness (CT), and exocarp thickness (ET). WL varied from 14 to 68% during storage. Non-additive effects played more important role than additive, including CT, EP and TSS. Effective strategies to reduce WL should be achieved by repeated backcrosses followed by selection in segregating populations (SP). Therefore, the selection of hybrids should follow high specific combining ability traits. Selecting fruits with higher CT and lower TSS values are indirectly selecting fruits with lower WL. Varieties with low WL can be breed using landraces 04 and 58 as parents or by the hybrid 04 x 44 in open lines in SP. Brazilian C. baccatum landraces are a source of genetic variability, and the SP emerging from crossing lines with reduced WL should develop new ways for conventional breeding.

The Huichang fault Basin in Jiangxi Province exhibits high terrestrial heat flow values and a dense concentration of hot springs. However, existing research is limited to individual geothermal fields without a comprehensive basin-wide analysis of geothermal water origins. This study investigates the source of geothermal water across five representative geothermal fields using hydrochemical components and isotopic analyses. The findings indicate: (1) The hydrochemical type transitions from bicarbonate sulphate-sodium-calcium in the north to bicarbonate sodium-calcium in the south; (2) Major chemical components of the geothermal water derive from evaporative salt rocks (Cretaceous sand conglomerate cover) and siliceous formations (granite/metamorphic rock basement); (3) The recharge elevation for geothermal water is approximately 1 km, sourced from adjacent hills. The central basin's geothermal water has an apparent age of about 26,000 years, with δ¹³C indicating participation in deep circulation; (4) Thermal reservoir temperatures range from 74 to 113℃, with the lowest temperatures at the basin's edges (Anzishan and Shangjin geothermal fields) and higher temperatures towards the center, suggesting increased warming and a circulation depth of 1.5 to 2.5 km; (5) Simulation results of reverse water-rock interaction indicate that mineral precipitation-dissolution processes are governed by the basin's main thermal control structures. The geothermal fields are predominantly influenced by reduction alterations associated with granite and are closely linked to paleo-geothermal waters in the enclosed basin, with the formation of these fields heavily reliant on the heat production or conduction from radioactive elements in granite.

Dearth of information on extent of genetic variability in cassava limits the genetic improvement of cassava in Sierra Leone. This study aimed at assessing the genetic variability and relationships within 103 cassava genotypes using agro-morphological and culinary markers. A field trial was conducted in the School of Agriculture and Food Sciences research site. The experiment was laid in an augmented randomized block design. Morphological classification based on qualitative and quantitative traits categorized the germplasm into three different groups. A total of ten principal components (PCs) in the qualitative and six PCs in the quantitative trait sets accounted for 66.74% and 67.27% of the total genetic variation, respectively. Traits with significantly strong and positive correlations included presence of fruit (PFRT) and presence of seed (PSE)(r = 0.86***),root yield per plant (RYPP) and number of storage root (NSR) (r = 0.76***), RYPP and number of commercial root (NCR) (r = 0.68***), length of leaf lobe (LLL) and width of leaf lobe (WLL) (r = 0.66***),and between NSR and NCR (0.84***). Cooking time, cooking percentage, texture, mealiness, taste and aroma varied widely among the accessions. Findings established that the cassava germplasm possess useful genetic variability that could be exploited through selection for short term release programme, genetic conservation of valuable germplasm and genetic improvement of the crop.

Intrusion Detection Systems play a crucial role in a network. They can detect different network attacks and raise warnings on them. Machine learning-based IDSs are trained on datasets that, due to the context, are inherently large, since they can contain network traffic from different time periods and often include a large number of features. In this paper, we present two contributions: the study of the importance of feature selection when using an IDS dataset, while striking a balance between performance and the number of features; and the study of the feasibility of using a low-capacity device, the Nvidia Jetson Nano, to implement an IDS in a low-capacity network. The results, comparing the GA with other well-known techniques in feature selection and reduction, show that the GA has a higher F1-score of 76%, although the time to find the optimal set of features surpasses other methods; the reduction of the number of features reduces the processing time without a significant impact in f1-score. The Jetson Nano allows the classification of network traffic with an overhead of 10 times in comparison to a traditional server.

Myasthenia gravis (MG) is a disease characterized by typical clinical and immunopathogenic pe-culiarities, which correlate with age and sex/gender. Accordingly, MG patients show thymic al-terations and auto-antibodies productions, that can be the expression of a different pathogenetic mechanism related to age and gender. This determines, in relation to age at and sex/gender, a dif-ferent MG onset, prognosis, and outcome. Therefore, diverse MG forms can be identified, classi-fied, and characterized in relation to their different features, and precisely there are early onset and late-onset forms of MG. It has been hypothesized that the cause of appearance the two diverse forms of MG can be ascribed mainly to the diverse genetic and epigenetic factors. In this narrative review, we will analyze and discuss about the interplay of age- and sex-related factors (i.e. genet-ic and epigenetic factors) related to two different MG forms and how they contribute to their di-verse pathogenesis.

Abstract Safflower (Carthamus tinctorius L.) is a multipurpose minor crop consumed by developed and developing nations around the world with a limited research fund and genetic resources. Genomic selection (GS) is an effective modern breeding tool which could help to fast track the genetic diversity preserved in genebank collections to facilitate rapid and efficient germplasm improvement and variety development. In the present study, we simulated four GS strategies to compare genetic gains and inbreeding rates during breeding cycles in a safflower recurrent selection breeding program targeting grain yield (GY) and seed oil content (OL). We observed positive genetic gains over cycles in all four GS strategies, where the first cycle delivered the largest genetic gain. Single traits GS strategies had the greatest gain for the target trait but with very limited genetic improvement for the other trait. Simultaneous selection for GY and OL via index indicated higher gains for both traits than crossing between the two single trait independent culling strategies. The the multi-trati GS strategy with inbreeding control (GS_GY+OL+Rel) showed lower inbreeding rate but similar gain compared to GS_GY+OL (without inbreeding control) after few cycles. Our finding lay the foundation for the future safflower GS breeding.

This article studies the morphological parameters of vegetative and generative organs of different age groups of Crataegus ambigua from four populations in Western Karatau (Mangistau region, Kazakhstan). The study examined four populations Pop 1 Sultan Epe, Pop 2 Karakozaiym, Pop 3 Emdikorgan, and Pop 4 Samal located in various gorges of western Karatau. Some phylogenetic inference methods were applied using six genetic markers atpF-atpH, ITS, matK, psbK-psbI, rbcL, and trnH-psbA. We also used a statistical analysis of the vegetative and generative organs of plants for three age groups of plants (virgin, young generative, and adult generative). According to the age structure, Samal populations have a high concentration of young generative plants - 42.3% and adult generative plants - 30.9%. Morphological analysis showed the significance of the parameters of the generative organs and separated the Samal population into a separate group according to the main PCoA coordinates. The results of the floristic analysis showed that the populations in the Samal have a high concentration of species diversity. The comparative dendrogram of UPGMA shows the informativeness of the use of genetic markers and the psbK-psbI region can be used to judge the difference between the fourth Samal population and the other three.

The present study aimed to determine the genetic diversity of isolates of Mycobacterium tuberculosis (Mtb) from presumed drug resistant tuberculosis patients from several states of Brazil. The isolates had been submitted to conventional drug susceptibility testing for first- and second-line drugs. Multidrug-resistant (MDR-TB) (54.8%) was the most frequent phenotypic resistance profile, in addition to an important high frequency of pre-extensively resistant (p-XDR-TB) (9.2%). Using whole-genome sequencing (WGS), we characterized 298 Mtb isolates from Brazil. Besides analysis of genotype distribution and possible correlations between molecular and clinical data, we determined the performance of an in-house WGS pipeline with other online pipelines for Mtb lineages and drug resistance profile definition. Sub-lineage 4.3 (52%) was the most frequent genotype and the genomic approach revealed a p-XDR-TB level of 22.5%. We detected 20 novel mutations in three resistance genes, and six of these were observed in eight phenotypically resistant isolates. Cluster analysis of 170 isolates showed that 43.5% of the TB patients belonged to 24 genomic clusters, suggesting considerable ongoing transmission of DR-TB, including two interstate transmissions. The in-house WGS pipeline showed the best overall performance in drug-resistance prediction, presenting the best accuracy values to five of nine drugs tested. Significant associations were observed between suffering from fatal disease and genotypic p-XDR-TB (p = 0.03) and either phenotypic (p = 0.006) and genotypic (p = 0.0007) ethambutol resistance. The use of WGS analysis improved our understanding of the population structure of MTBC in Brazil, genetic and clinical data correlations and demonstrating its utility for surveillance efforts for spread of DR-TB, hopefully helping to avoid the emergence of even more resistant strains and to reduce TB incidence and mortality rates.

Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty, and considerable psychosocial challenges. Semi-structured interviews (N= 24) were conducted with parents of 13 children (aged 2-19 years) with a genetically confirmed PMD. Paternal (N=11) and maternal (N=13) perspectives were obtained, and thematic analysis performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs.

Bananas, a staple food globally and a key agricultural commodity, face a severe threat from the fungus Fusarium oxysporum form specialis cubense (Foc), significantly impacting production. Genetic improvement to develop resistant cultivars stands out as a crucial strategy to mitigate this disease. This study focused on assessing and recommending enhanced diploid banana varieties for resistance against Foc subtropical race 4 (ST4) and Foc race 1 (R1). Twenty-five improved diploids developed by Embrapa, Brazil, underwent evaluation. Utilizing a scale for internal symptoms at 90 days post-inoculation, genotypes were categorized from highly resistant to highly susceptible based on the internal symptom index. The diploid M53 exhibited high resistance to R1 and resistance to Foc ST4, while only the diploid CNPMF 0534 demonstrated complete resistance to both R1 and ST4, with resistance to the latter likely associated with penetration. These findings provide valuable insights for banana and plantain breeding programs, offering selected diploids for crossbreeding with commercial cultivars to develop new, resistant genotypes against Foc.

The Maastricht VI/Florence consensus recommends, as one of the measures to enhance the efficacy of Helicobacter pylori (H. pylori) infection eradication, a personalized treatment approach involving the selection of an antimicrobial agent based on the pre-determined resistance of H. pylori. To meet the need to develop test systems for personalized drug selection, we conducted a study of H. pylori molecular resistance in Moscow using a self-developed Sanger sequencing test platform. We validated our test system on 25 pure culture samples of H. pylori with known resistance. Sensitivity and specificity for detecting resistance to clarithromycin was 100%, and to levofloxacin - 93% and 92%, respectively. Then we tested our platform on 112 H. pylori -positive patients who had not previously received proton pump inhibitors (PPI) or antibacterial drugs. Mutations indicating resistance to clarithromycin were found in 27 (24%) samples, and to levofloxacin in 26 (23%) samples. Double resistance was observed in 16 (14%) samples. The most common mutations leading to clarithromycin resistance were 2143G and 2142G, to levofloxacin resistance – 261A and 271A in the gyrA gene, which account for 69% of all identified genetic determinants in levofloxacin-resistant bacteria. Thus, a personalized approach to the selection of H. pylori eradication therapy based on the detection of bacterial resistance before prescribing first-line therapy could help avoid the prescription of ineffective H. pylori eradication therapies and, overall, contribute to the control of antibiotic resistance of H. pylori.

Glioblastoma (GBM) is the most common malignant brain tumor in adults. Despite advancements in treatment, the prognosis for patients with GBM remains poor due to its aggressive nature and resistance to therapy. CRISPR-based genetic screening has emerged as a powerful tool for identifying genes crucial for tumor progression and treatment resistance, offering promising targets for tumor therapy. In this review, we provide an overview of the recent advancements in CRISPR-based genetic screening approaches and their applications in GBM. We highlight how these approaches have been used to uncover genetic determinants of GBM progression and susceptibility to various therapies. Furthermore, we discuss ongoing challenges and future directions of CRISPR-based screening methods in advancing GBM research.

Ultrasound, as mechanical waves with frequencies exceeding 20 thousand hertz, has found wide applications in medicine, physiotherapy, and more recently in agriculture. This study aimed to investigate the impact of ultrasound on potato yield and its parameters, particularly on seed potato yield, quantity, mass, and multiplication coefficient of potato tubers. The research was based on a three-year field experiment, utilizing the randomized block design in a split-split-plot arrangement, in the central-eastern region of Poland. The primary factor were technologies: a) technology with employing ultrasonic pre-planting treatment, b) traditional cultivation without this treatment. The secondary factors were potato varieties. Sonication of tubers was conducted using a bath-type ultrasonic device equipped with piezoe-lectric transducers. Results revealed a significant influence of cultivation technology, cultivar, and weather conditions on seed tubers yield, quantity, and multiplication coefficient of potato tubers. However, genetic traits of the examined varieties and random factors significantly affected the individual seed tuber mass and the number of shoots emerging from a single tuber. Future Outlook: Future research could focus on further optimizing ultrasound application techniques in potato cultivation, considering diverse varieties and environmental conditions. Additionally, it would be worthwhile to analyze the long-term effects of ultrasound on tuber seed potato quality and their ability to adapt to changing climatic and soil conditions. Furthermore, studies investi-gating the impact of ultrasound on other plant species could broaden our understanding of po-tential benefits in agriculture.

One of the main factors that influence the fertility of cattle in grazing systems in hot tropical climates is heat stress. The objective of this study was to evaluate the effect of season, breed, hormonal and physiological condition on the quantity and quality of cumulus-oocyte complexes (COCs) and embryos produced in vitro, from Romosinuano (RM) and Tropical Milking (TM) donors. Three ovum pick-up and in vitro fertilization (OPU-IVF) were performed, one per season; hot dry (HD; 10, 10), hot humid (HH; 9, 9) and fresh dry (FD; 7, 10) in RM and LT donors. Serum levels of cortisol, insulin and glucose were measured, in addition to heart rate (HR), respiratory rate (RR) and rectal temperature (RT). Effect of season x genotype interaction (p≤0.05) was observed in all COCs variables and only in cleavage embryos (CLI) (p≤0.05). Body weight (BW) affected all COCs variables (p≤0.01), except unviable (UNV) although affected degenerated embryos (DEG) (p≤0.01) and total blastocysts (BLAST) (p≤0.01). Cow age only affected viable COCs (VIAB) (p ≤ 0.05), code one blastocysts (BC1) and BLAST (p≤0.01). Cortisol affected total COCs (COCsT), VIAB and total matured in vitro (TMIV) (p≤0.01), as well as CLI, BC1 (p≤0.01) and BLAST (p≤0.05). Insulin affected COCsT (p≤0.01), UNV (p≤0.05), denuded oocytes (DE) (p≤0.01), BC1 and code two blastocysts (BC2) (p≤0.01). Glucose affected all COCs variables (p≤0.01), except UNV and all embryo variables except BC2. HR affected COCsT, DE, TMIV (p≤0.01), CLI, BLAST and DEG (p≤0.05). RR affected COCsT, UNV, VIAB, CLI (p≤0.05), BC1, BLAST and DEG (p≤0.01). RT only affected DE, VIAB (p≤0.01) and BLAST (p≤0.05). The seasonal climatic year variation of Veracruz and changes in physiological and hormonal variables have diverse effects on the cumulus-oocyte complexes and embryos produced by RM and TM donors.

Multiple sclerosis is an autoinflammatory condition that results in damage of myelinated neurons in affected patients. While disease-modifying treatments have been successful in slowing the progression of relapsing remittent disease, most patients still progress to secondary progressive disease that is largely unresponsive to disease-modifying treatments. Similarly, there is currently no effective treatment for patients with primary progressive MS. Innate and adaptive immune cells in the CNS play a critical role in initiating an autoimmune attack and in maintaining the chronic inflammation that drives disease progression. In this review, we will focus on recent insights into the role of T cells with regulatory function in suppressing the progression of MS, and, more importantly, in promoting the remyelination and repair of MS lesions in the CNS. We will discuss the exciting opportunity to genetically reprogram regulatory T cells to achieve immune suppression and enhance repair locally at sites of tissue damage, while retaining a fully competent immune system outside the CNS. In the future, reprogramed regulatory T cells with defined specificity and function may provide life medicines that can persist in patients and achieve lasting disease suppression after one cycle of treatment.

Preventive Maintenance (PM) is a periodic maintenance strategy, which has great results for devices in extending their life, increasing productivity, and most importantly, help avoid unexpected breakdowns and their costly consequence. A preventive maintenance scheduling (PMS) is determining the time for carrying out PM, and it represents a sensitive issue in terms of impact on production if the time for the PM process is not optimally distributed. In this study, hybrid heuristic methods were used to solve the PMS problem, as genetic algorithm and Tabu research were adopted. The optimal solution was reached in a short time compared to previous studies in which optimal methods were used, integer programming and nonlinear integer programming. Also, sensitivity analysis was applied to measure the robustness and strength of the method used, where an optimal solution was obtained for all experiments and in record time. This method can be used for power plants in privet or public sectors, to generate an optimal PMS, to save money, and to avoid water or electricity cuts.

The optimal structural design is imperative to minimize material consumption and reduce the environmental impact of construction. Given the complexity in the formulation of structural design problems, the process of optimization is commonly performed using artificial intelligence (AI) global optimization, such as Genetic Algorithm (GA). However, the integration of AI-based optimization together with visual programming (VP) in building information modeling (BIM) projects warrants further investigation. This study proposes a workflow by combining structure analysis, VP, BIM, and GA to optimize trusses. The methodology encompasses several steps including: (i) generation of parametric trusses in Dynamo VP; (ii) performing the finite element modeling (FEM) using Robot Structural Analysis (RSA); (iii) retrieving and evaluating the FEM results interchangeably between Dynamo and RSA; (iv) finding the best solution using GA; and (v) importing the optimized model into Revit, enabling the user to perform simulations and engineering analysis, such as life cycle assessment (LCA) and quantity surveying. The feasibility of the proposed workflow was tested on benchmark problems and compared with open literature. The outcomes of this study offer insight into the opportunities and limitations of combining VP, GA, FEA, and BIM for structural optimization applications, particularly to enhance structural efficiency and sustainability in construction.

Members of the genus Armillaria are widespread forest pathogens against which effective protection has not yet been developed. Due to their longevity and the creation of large-scale cloning of Armillaria individuals, the use of mycoviruses as biocontrol agents (BCAs) against these pathogens could be an effective alternative. This work describes the screening of double-stranded RNA banding patterns as a first approach for potential virus discovery and the use of stranded total RNA-seq for viral detection and characterization in Armillaria spp. collected in the Czech Republic. A total of five single-stranded RNA viruses were detected in Armillaria ostoyae and A. cepistipes, including the first virus of the family Tymoviridae found infecting a member the genus Armillaria and four viruses belonging to the recently described virus group "ambiviruses" with circular ambisense genome organization. Both hammerhead (HHRz) and hairpin (HpRz) ribozymes were detected in all the ambiviricot sequences. Armillaria viruses were compared by phylogenetic analysis and confirmed their specific host by direct RT-PCR, which showed the occurrence of interspecies transmission.

The construction industry has a notable negative impact on the environment; thus, the promotion of the use of timber structures is an alternative to mitigate its effects. The research develops an artificial intelligence-based decision approach in the calculation of timber structures focused on the enhancement of the sustainability of roof structures. Based on the optimization carried out through genetic algorithms and the framework established in Eurocode 5, a general set of equations has been proposed for a laminated timber roof structure. The tool, which determines the most suitable roof structure for each strength class of laminated timber, allows for the determination of the dimensions of beams and purlins and their respective separations in order to minimize wood consumption. The ultimate goal is to offer multiple solutions regarding strength classes and structural designs in order to foster informed sustainable choices that promote efficient use of resources in construction.