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Keywords = Genetic Programming

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15 pages, 285 KiB  
Article
Genetic Profiles of Purine, Uric Acid, Superoxide Dismutase, and Growth in Thai Slow-Growing Chickens
by Wuttigrai Boonkum, Vibuntita Chankitisakul, Srinuan Kananit, Veeraya Tuntiyasawasdikul, Vatsana Sirisan and Wootichai Kenchaiwong
Animals 2024, 14(24), 3658; https://doi.org/10.3390/ani14243658 - 18 Dec 2024
Abstract
The objective of this study was to estimate genetic parameters and genetic correlations between growth characteristics and purine and uric acid in the breast and liver and superoxide dismutase (SOD) in the blood. The growth characteristics included body weight (BW) at hatching (BW0), [...] Read more.
The objective of this study was to estimate genetic parameters and genetic correlations between growth characteristics and purine and uric acid in the breast and liver and superoxide dismutase (SOD) in the blood. The growth characteristics included body weight (BW) at hatching (BW0), BW at 2, 4, 6, 8, and 10 weeks of age, average daily gain (ADG) at 0–2, 2–4, 4–6, 6–8, and 8–10 weeks of age, and breast circumference at 6, 8, and 10 weeks of age (BrC6, BrC8, and BrC10) were recorded from 300 Thai native chickens (Shee breed). In total, 30 chickens (15 males and 15 females) were randomly euthanized to collect breast meat, liver, and blood samples to determine the purine content. A multiple-trait animal model and an average information-restricted maximum likelihood (AI-REML) were used to estimate the variance components and genetic parameters. The estimated heritability values for all growth traits were moderate and ranged from 0.304 to 0.485, 0.270 to 0.335, and 0.286 to 0.314 for BW, ADG, and BrC, respectively. The estimated heritability values for various biochemical traits, including purine content, uric acid, and SOD levels, were low to moderate and ranged from 0.035 to 0.143, and 0.050 to 0.213 in breast meat and liver, respectively. In genetic correlations, total purine content showed a strong negative correlation with growth traits, whereas uric acid and SOD levels exhibited varying degrees of correlation with BW and ADG. These results highlight the importance of genetic parameters between growth and biochemical traits in Thai native chickens and provide valuable insights for breeding programs aimed at improving growth performance and meat quality. This study indicated the potential use of heritability values and genetic correlations to enhance selective breeding strategies using the multiple-trait genetic evaluation method for optimal trait combinations in poultry. Full article
14 pages, 1197 KiB  
Review
Maternal Gut Microbiome-Mediated Epigenetic Modifications in Cognitive Development and Impairments: A New Frontier for Therapeutic Innovation
by Shabnam Nohesara, Hamid Mostafavi Abdolmaleky, Faith Dickerson, Adrián A. Pinto-Tomás, Dilip V. Jeste and Sam Thiagalingam
Nutrients 2024, 16(24), 4355; https://doi.org/10.3390/nu16244355 - 17 Dec 2024
Viewed by 286
Abstract
Cognitive impairment in various mental illnesses, particularly neuropsychiatric disorders, has adverse functional and clinical consequences. While genetic mutations and epigenetic dysregulations of several genes during embryonic and adult periods are linked to cognitive impairment in mental disorders, the composition and diversity of resident [...] Read more.
Cognitive impairment in various mental illnesses, particularly neuropsychiatric disorders, has adverse functional and clinical consequences. While genetic mutations and epigenetic dysregulations of several genes during embryonic and adult periods are linked to cognitive impairment in mental disorders, the composition and diversity of resident bacteria in the gastrointestinal tract—shaped by environmental factors—also influence the brain epigenome, affecting behavior and cognitive functions. Accordingly, many recent studies have provided evidence that human gut microbiota may offer a potential avenue for improving cognitive deficits. In this review, we provide an overview of the relationship between cognitive impairment, alterations in the gut microbiome, and epigenetic alterations during embryonic and adult periods. We examine how various factors beyond genetics—such as lifestyle, age, and maternal diet—impact the composition, diversity, and epigenetic functionality of the gut microbiome, consequently influencing cognitive performance. Additionally, we explore the potential of maternal gut microbiome signatures and epigenetic biomarkers for predicting cognitive impairment risk in older adults. This article also explores the potential roles of nutritional deficiencies in programming cognitive disorders during the perinatal period in offspring, as well as the promise of gut microbiome-targeted therapeutics with epigenetic effects to prevent or alleviate cognitive dysfunctions in infants, middle-aged adults, and older adults. Unsolved challenges of gut microbiome-targeted therapeutics in mitigating cognitive dysfunctions for translation into clinical practice are discussed, lastly. Full article
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Figure 1

Figure 1
<p>Association between various factors (nutritional interventions, age, antibiotics, and environmental factors such as chemicals), changes in the composition of the gut microbiome, and cognitive performance.</p>
Full article ">Figure 2
<p>Gut microbiome-targeted therapeutics for improving cognitive impairments.</p>
Full article ">
31 pages, 6491 KiB  
Systematic Review
Obesity, Physical Activity, and Cancer Incidence in Two Geographically Distinct Populations; The Gulf Cooperation Council Countries and the United Kingdom—A Systematic Review and Meta-Analysis
by Christine Gaskell, Stuart Lutimba, Ghizlane Bendriss and Eiman Aleem
Cancers 2024, 16(24), 4205; https://doi.org/10.3390/cancers16244205 - 17 Dec 2024
Viewed by 192
Abstract
Background: The relationship between obesity, physical activity, and cancer has not been well studied across different countries. The age-standardized rate of cancer in the UK is double–triple that in the Gulf Cooperation Council Countries (GCCCs). Here, we study the association between obesity, physical [...] Read more.
Background: The relationship between obesity, physical activity, and cancer has not been well studied across different countries. The age-standardized rate of cancer in the UK is double–triple that in the Gulf Cooperation Council Countries (GCCCs). Here, we study the association between obesity, physical activity, and cancer incidence with the aim to elucidate cancer epidemiology and risk factors in two geographically, ethnically, and climatically different parts of the world. Methods: Our systematic search (from 2016 to 2023) in PubMed, EMBASE, Scopus, and APA PsycINFO databases resulted in 64 studies totaling 13,609,578 participants. The Cochrane risk of bias tool, GRADE, R programming language, and the meta package were used. Results: Significant associations between obesity and cancer were found in both regions, with a stronger association in the UK (p ≤ 0.0001) than the GCCCs (p = 0.0042). While physical inactivity alone did not show a statistically significant association with cancer incidence, the pooled hazard ratio analysis revealed that the presence of both obesity and physical inactivity was associated with a significantly higher cancer incidence. The most common types of cancer were breast cancer in the UK and colorectal cancer across the GCCCs. Conclusion: Although both regions share similarities, advanced healthcare systems, genetic characteristics, dietary habits, and cultural practices may influence cancer incidence and types. Full article
(This article belongs to the Special Issue Obesity and Cancers)
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Figure 1

Figure 1
<p>Flow chart of study selection for inclusion in the meta-analysis (PRISMA flow chart).</p>
Full article ">Figure 2
<p>Forest plot of all studies showing the association of obesity and cancer incidence in both GCCCs and the UK. The random-effects model was used to adjust for heterogeneity. The black squares and lines represent the confidence intervals of the individual studies, the grey squares represent the study weight, and the grey diamond represents the pooled HR. CI, confidence interval, GCCCs, Gulf Cooperation Council Countries, HR, hazard ratio, SE, standard error, TE, treatment effect, UK, United Kingdom [<a href="#B40-cancers-16-04205" class="html-bibr">40</a>,<a href="#B41-cancers-16-04205" class="html-bibr">41</a>,<a href="#B42-cancers-16-04205" class="html-bibr">42</a>,<a href="#B43-cancers-16-04205" class="html-bibr">43</a>,<a href="#B44-cancers-16-04205" class="html-bibr">44</a>,<a href="#B45-cancers-16-04205" class="html-bibr">45</a>,<a href="#B46-cancers-16-04205" class="html-bibr">46</a>,<a href="#B47-cancers-16-04205" class="html-bibr">47</a>,<a href="#B48-cancers-16-04205" class="html-bibr">48</a>,<a href="#B49-cancers-16-04205" class="html-bibr">49</a>,<a href="#B50-cancers-16-04205" class="html-bibr">50</a>,<a href="#B51-cancers-16-04205" class="html-bibr">51</a>,<a href="#B52-cancers-16-04205" class="html-bibr">52</a>,<a href="#B53-cancers-16-04205" class="html-bibr">53</a>,<a href="#B54-cancers-16-04205" class="html-bibr">54</a>,<a href="#B55-cancers-16-04205" class="html-bibr">55</a>,<a href="#B56-cancers-16-04205" class="html-bibr">56</a>,<a href="#B57-cancers-16-04205" class="html-bibr">57</a>,<a href="#B58-cancers-16-04205" class="html-bibr">58</a>,<a href="#B59-cancers-16-04205" class="html-bibr">59</a>,<a href="#B60-cancers-16-04205" class="html-bibr">60</a>,<a href="#B61-cancers-16-04205" class="html-bibr">61</a>,<a href="#B62-cancers-16-04205" class="html-bibr">62</a>,<a href="#B63-cancers-16-04205" class="html-bibr">63</a>,<a href="#B64-cancers-16-04205" class="html-bibr">64</a>,<a href="#B65-cancers-16-04205" class="html-bibr">65</a>,<a href="#B66-cancers-16-04205" class="html-bibr">66</a>,<a href="#B67-cancers-16-04205" class="html-bibr">67</a>,<a href="#B68-cancers-16-04205" class="html-bibr">68</a>,<a href="#B69-cancers-16-04205" class="html-bibr">69</a>,<a href="#B70-cancers-16-04205" class="html-bibr">70</a>,<a href="#B71-cancers-16-04205" class="html-bibr">71</a>,<a href="#B72-cancers-16-04205" class="html-bibr">72</a>,<a href="#B73-cancers-16-04205" class="html-bibr">73</a>,<a href="#B74-cancers-16-04205" class="html-bibr">74</a>,<a href="#B75-cancers-16-04205" class="html-bibr">75</a>,<a href="#B76-cancers-16-04205" class="html-bibr">76</a>,<a href="#B77-cancers-16-04205" class="html-bibr">77</a>,<a href="#B78-cancers-16-04205" class="html-bibr">78</a>,<a href="#B79-cancers-16-04205" class="html-bibr">79</a>,<a href="#B80-cancers-16-04205" class="html-bibr">80</a>,<a href="#B81-cancers-16-04205" class="html-bibr">81</a>,<a href="#B82-cancers-16-04205" class="html-bibr">82</a>,<a href="#B83-cancers-16-04205" class="html-bibr">83</a>,<a href="#B84-cancers-16-04205" class="html-bibr">84</a>,<a href="#B85-cancers-16-04205" class="html-bibr">85</a>,<a href="#B86-cancers-16-04205" class="html-bibr">86</a>,<a href="#B87-cancers-16-04205" class="html-bibr">87</a>,<a href="#B88-cancers-16-04205" class="html-bibr">88</a>,<a href="#B89-cancers-16-04205" class="html-bibr">89</a>,<a href="#B90-cancers-16-04205" class="html-bibr">90</a>,<a href="#B91-cancers-16-04205" class="html-bibr">91</a>,<a href="#B92-cancers-16-04205" class="html-bibr">92</a>,<a href="#B93-cancers-16-04205" class="html-bibr">93</a>,<a href="#B94-cancers-16-04205" class="html-bibr">94</a>,<a href="#B95-cancers-16-04205" class="html-bibr">95</a>,<a href="#B96-cancers-16-04205" class="html-bibr">96</a>,<a href="#B97-cancers-16-04205" class="html-bibr">97</a>,<a href="#B98-cancers-16-04205" class="html-bibr">98</a>,<a href="#B99-cancers-16-04205" class="html-bibr">99</a>,<a href="#B100-cancers-16-04205" class="html-bibr">100</a>,<a href="#B101-cancers-16-04205" class="html-bibr">101</a>,<a href="#B102-cancers-16-04205" class="html-bibr">102</a>].</p>
Full article ">Figure 3
<p>Funnel plot of all studies included in the meta-analysis. The <span class="html-italic">x</span>-axis displays the study estimated effect size with inverse hazard ratio (In(HR)), and the <span class="html-italic">y</span>-axis represents a measure of study precision, with standard error. The dots represent the effect sizes from individual studies plotted against their precision while the dashed lines signify the expected distribution of these studies. The distribution of the studies observed in the funnel plot could be due to the heterogeneity of the studies.</p>
Full article ">Figure 4
<p>Forest plot of 42 studies showing the association of obesity and the incidence of cancer in the UK. The random-effects model was used to adjust for heterogeneity. The black squares and lines represent the confidence intervals of the individual studies, the grey squares represent the study weight, and the diamond represents the pooled HR. CI, confidence interval, HR, hazard ratio, SE, standard error, TE: treatment effect [<a href="#B40-cancers-16-04205" class="html-bibr">40</a>,<a href="#B41-cancers-16-04205" class="html-bibr">41</a>,<a href="#B42-cancers-16-04205" class="html-bibr">42</a>,<a href="#B43-cancers-16-04205" class="html-bibr">43</a>,<a href="#B44-cancers-16-04205" class="html-bibr">44</a>,<a href="#B45-cancers-16-04205" class="html-bibr">45</a>,<a href="#B47-cancers-16-04205" class="html-bibr">47</a>,<a href="#B48-cancers-16-04205" class="html-bibr">48</a>,<a href="#B49-cancers-16-04205" class="html-bibr">49</a>,<a href="#B57-cancers-16-04205" class="html-bibr">57</a>,<a href="#B58-cancers-16-04205" class="html-bibr">58</a>,<a href="#B59-cancers-16-04205" class="html-bibr">59</a>,<a href="#B60-cancers-16-04205" class="html-bibr">60</a>,<a href="#B61-cancers-16-04205" class="html-bibr">61</a>,<a href="#B62-cancers-16-04205" class="html-bibr">62</a>,<a href="#B63-cancers-16-04205" class="html-bibr">63</a>,<a href="#B64-cancers-16-04205" class="html-bibr">64</a>,<a href="#B65-cancers-16-04205" class="html-bibr">65</a>,<a href="#B66-cancers-16-04205" class="html-bibr">66</a>,<a href="#B67-cancers-16-04205" class="html-bibr">67</a>,<a href="#B68-cancers-16-04205" class="html-bibr">68</a>,<a href="#B69-cancers-16-04205" class="html-bibr">69</a>,<a href="#B70-cancers-16-04205" class="html-bibr">70</a>,<a href="#B71-cancers-16-04205" class="html-bibr">71</a>,<a href="#B72-cancers-16-04205" class="html-bibr">72</a>,<a href="#B73-cancers-16-04205" class="html-bibr">73</a>,<a href="#B74-cancers-16-04205" class="html-bibr">74</a>,<a href="#B75-cancers-16-04205" class="html-bibr">75</a>,<a href="#B76-cancers-16-04205" class="html-bibr">76</a>,<a href="#B77-cancers-16-04205" class="html-bibr">77</a>,<a href="#B78-cancers-16-04205" class="html-bibr">78</a>,<a href="#B79-cancers-16-04205" class="html-bibr">79</a>,<a href="#B81-cancers-16-04205" class="html-bibr">81</a>,<a href="#B82-cancers-16-04205" class="html-bibr">82</a>,<a href="#B83-cancers-16-04205" class="html-bibr">83</a>,<a href="#B86-cancers-16-04205" class="html-bibr">86</a>,<a href="#B87-cancers-16-04205" class="html-bibr">87</a>,<a href="#B88-cancers-16-04205" class="html-bibr">88</a>,<a href="#B90-cancers-16-04205" class="html-bibr">90</a>,<a href="#B91-cancers-16-04205" class="html-bibr">91</a>,<a href="#B92-cancers-16-04205" class="html-bibr">92</a>].</p>
Full article ">Figure 5
<p>Forest plot showing the association of obesity and the incidence of cancer of 22 studies of the GCCCs (<b>A</b>), of 9 studies of the GCCCs excluding Saudi Arabia (<b>B</b>) and of 13 studies of Saudi Arabia (<b>C</b>). The random-effects model was used to adjust for heterogeneity. The black squares and lines represent the confidence intervals of the individual studies, the grey squares represent the study weight, and the grey diamond represents the pooled HR. CI, Confidence interval, GCCCs, Gulf cooperation countries council, HR, hazard ratio, SE, standard error, TE: treatment effect [<a href="#B46-cancers-16-04205" class="html-bibr">46</a>,<a href="#B50-cancers-16-04205" class="html-bibr">50</a>,<a href="#B51-cancers-16-04205" class="html-bibr">51</a>,<a href="#B52-cancers-16-04205" class="html-bibr">52</a>,<a href="#B53-cancers-16-04205" class="html-bibr">53</a>,<a href="#B54-cancers-16-04205" class="html-bibr">54</a>,<a href="#B55-cancers-16-04205" class="html-bibr">55</a>,<a href="#B56-cancers-16-04205" class="html-bibr">56</a>,<a href="#B80-cancers-16-04205" class="html-bibr">80</a>,<a href="#B84-cancers-16-04205" class="html-bibr">84</a>,<a href="#B85-cancers-16-04205" class="html-bibr">85</a>,<a href="#B89-cancers-16-04205" class="html-bibr">89</a>,<a href="#B93-cancers-16-04205" class="html-bibr">93</a>,<a href="#B94-cancers-16-04205" class="html-bibr">94</a>,<a href="#B95-cancers-16-04205" class="html-bibr">95</a>,<a href="#B96-cancers-16-04205" class="html-bibr">96</a>,<a href="#B97-cancers-16-04205" class="html-bibr">97</a>,<a href="#B98-cancers-16-04205" class="html-bibr">98</a>,<a href="#B99-cancers-16-04205" class="html-bibr">99</a>,<a href="#B100-cancers-16-04205" class="html-bibr">100</a>,<a href="#B101-cancers-16-04205" class="html-bibr">101</a>,<a href="#B102-cancers-16-04205" class="html-bibr">102</a>].</p>
Full article ">Figure 6
<p>Forest plot illustrating the association between cancer incidence and age group (40–60). The black squares and lines represent the confidence intervals of the individual studies; the grey squares represent the study weight. The diamond at the bottom of the plot represents the overall pooled effect size, with its width reflecting the 95% CI. CI, confidence interval, HR, hazard ratio, SE, standard error [<a href="#B43-cancers-16-04205" class="html-bibr">43</a>,<a href="#B51-cancers-16-04205" class="html-bibr">51</a>,<a href="#B65-cancers-16-04205" class="html-bibr">65</a>,<a href="#B68-cancers-16-04205" class="html-bibr">68</a>,<a href="#B70-cancers-16-04205" class="html-bibr">70</a>,<a href="#B74-cancers-16-04205" class="html-bibr">74</a>,<a href="#B81-cancers-16-04205" class="html-bibr">81</a>,<a href="#B84-cancers-16-04205" class="html-bibr">84</a>,<a href="#B87-cancers-16-04205" class="html-bibr">87</a>,<a href="#B88-cancers-16-04205" class="html-bibr">88</a>,<a href="#B90-cancers-16-04205" class="html-bibr">90</a>,<a href="#B91-cancers-16-04205" class="html-bibr">91</a>,<a href="#B96-cancers-16-04205" class="html-bibr">96</a>,<a href="#B99-cancers-16-04205" class="html-bibr">99</a>,<a href="#B101-cancers-16-04205" class="html-bibr">101</a>].</p>
Full article ">Figure 7
<p>Meta-regression bubble plot showing the relationship between mean participant age and log hazard ratio (effect size). Each bubble represents a study, with bubble size proportional to the study’s weight in the meta-analysis. The solid line indicates the regression line, while the dashed lines represent the 95% confidence interval.</p>
Full article ">Figure 8
<p>Forest plots show the association of gender and incidence of cancer for females and males [<a href="#B40-cancers-16-04205" class="html-bibr">40</a>,<a href="#B41-cancers-16-04205" class="html-bibr">41</a>,<a href="#B42-cancers-16-04205" class="html-bibr">42</a>,<a href="#B43-cancers-16-04205" class="html-bibr">43</a>,<a href="#B44-cancers-16-04205" class="html-bibr">44</a>,<a href="#B45-cancers-16-04205" class="html-bibr">45</a>,<a href="#B46-cancers-16-04205" class="html-bibr">46</a>,<a href="#B47-cancers-16-04205" class="html-bibr">47</a>,<a href="#B48-cancers-16-04205" class="html-bibr">48</a>,<a href="#B49-cancers-16-04205" class="html-bibr">49</a>,<a href="#B50-cancers-16-04205" class="html-bibr">50</a>,<a href="#B51-cancers-16-04205" class="html-bibr">51</a>,<a href="#B52-cancers-16-04205" class="html-bibr">52</a>,<a href="#B53-cancers-16-04205" class="html-bibr">53</a>,<a href="#B54-cancers-16-04205" class="html-bibr">54</a>,<a href="#B55-cancers-16-04205" class="html-bibr">55</a>,<a href="#B56-cancers-16-04205" class="html-bibr">56</a>,<a href="#B57-cancers-16-04205" class="html-bibr">57</a>,<a href="#B58-cancers-16-04205" class="html-bibr">58</a>,<a href="#B59-cancers-16-04205" class="html-bibr">59</a>,<a href="#B60-cancers-16-04205" class="html-bibr">60</a>,<a href="#B61-cancers-16-04205" class="html-bibr">61</a>,<a href="#B62-cancers-16-04205" class="html-bibr">62</a>,<a href="#B63-cancers-16-04205" class="html-bibr">63</a>,<a href="#B64-cancers-16-04205" class="html-bibr">64</a>,<a href="#B65-cancers-16-04205" class="html-bibr">65</a>,<a href="#B66-cancers-16-04205" class="html-bibr">66</a>,<a href="#B67-cancers-16-04205" class="html-bibr">67</a>,<a href="#B68-cancers-16-04205" class="html-bibr">68</a>,<a href="#B69-cancers-16-04205" class="html-bibr">69</a>,<a href="#B70-cancers-16-04205" class="html-bibr">70</a>,<a href="#B71-cancers-16-04205" class="html-bibr">71</a>,<a href="#B72-cancers-16-04205" class="html-bibr">72</a>,<a href="#B73-cancers-16-04205" class="html-bibr">73</a>,<a href="#B74-cancers-16-04205" class="html-bibr">74</a>,<a href="#B75-cancers-16-04205" class="html-bibr">75</a>,<a href="#B76-cancers-16-04205" class="html-bibr">76</a>,<a href="#B77-cancers-16-04205" class="html-bibr">77</a>,<a href="#B78-cancers-16-04205" class="html-bibr">78</a>,<a href="#B79-cancers-16-04205" class="html-bibr">79</a>,<a href="#B80-cancers-16-04205" class="html-bibr">80</a>,<a href="#B81-cancers-16-04205" class="html-bibr">81</a>,<a href="#B82-cancers-16-04205" class="html-bibr">82</a>,<a href="#B83-cancers-16-04205" class="html-bibr">83</a>,<a href="#B84-cancers-16-04205" class="html-bibr">84</a>,<a href="#B85-cancers-16-04205" class="html-bibr">85</a>,<a href="#B86-cancers-16-04205" class="html-bibr">86</a>,<a href="#B87-cancers-16-04205" class="html-bibr">87</a>,<a href="#B88-cancers-16-04205" class="html-bibr">88</a>,<a href="#B89-cancers-16-04205" class="html-bibr">89</a>,<a href="#B90-cancers-16-04205" class="html-bibr">90</a>,<a href="#B91-cancers-16-04205" class="html-bibr">91</a>,<a href="#B92-cancers-16-04205" class="html-bibr">92</a>,<a href="#B93-cancers-16-04205" class="html-bibr">93</a>,<a href="#B94-cancers-16-04205" class="html-bibr">94</a>,<a href="#B95-cancers-16-04205" class="html-bibr">95</a>,<a href="#B96-cancers-16-04205" class="html-bibr">96</a>,<a href="#B97-cancers-16-04205" class="html-bibr">97</a>,<a href="#B98-cancers-16-04205" class="html-bibr">98</a>,<a href="#B99-cancers-16-04205" class="html-bibr">99</a>,<a href="#B100-cancers-16-04205" class="html-bibr">100</a>,<a href="#B101-cancers-16-04205" class="html-bibr">101</a>,<a href="#B102-cancers-16-04205" class="html-bibr">102</a>].</p>
Full article ">Figure 9
<p>Forest plot showing the association of obesity and the incidence of breast and gastrointestinal cancer types. Both types of cancer had a statistically significant association with obesity. The diamond at the bottom of the plot represents the overall pooled HR. CI, confidence interval, HR, hazard ratio, SE, standard error [<a href="#B40-cancers-16-04205" class="html-bibr">40</a>,<a href="#B43-cancers-16-04205" class="html-bibr">43</a>,<a href="#B45-cancers-16-04205" class="html-bibr">45</a>,<a href="#B47-cancers-16-04205" class="html-bibr">47</a>,<a href="#B48-cancers-16-04205" class="html-bibr">48</a>,<a href="#B51-cancers-16-04205" class="html-bibr">51</a>,<a href="#B53-cancers-16-04205" class="html-bibr">53</a>,<a href="#B54-cancers-16-04205" class="html-bibr">54</a>,<a href="#B55-cancers-16-04205" class="html-bibr">55</a>,<a href="#B56-cancers-16-04205" class="html-bibr">56</a>,<a href="#B60-cancers-16-04205" class="html-bibr">60</a>,<a href="#B61-cancers-16-04205" class="html-bibr">61</a>,<a href="#B63-cancers-16-04205" class="html-bibr">63</a>,<a href="#B64-cancers-16-04205" class="html-bibr">64</a>,<a href="#B66-cancers-16-04205" class="html-bibr">66</a>,<a href="#B67-cancers-16-04205" class="html-bibr">67</a>,<a href="#B68-cancers-16-04205" class="html-bibr">68</a>,<a href="#B69-cancers-16-04205" class="html-bibr">69</a>,<a href="#B70-cancers-16-04205" class="html-bibr">70</a>,<a href="#B72-cancers-16-04205" class="html-bibr">72</a>,<a href="#B73-cancers-16-04205" class="html-bibr">73</a>,<a href="#B74-cancers-16-04205" class="html-bibr">74</a>,<a href="#B76-cancers-16-04205" class="html-bibr">76</a>,<a href="#B77-cancers-16-04205" class="html-bibr">77</a>,<a href="#B78-cancers-16-04205" class="html-bibr">78</a>,<a href="#B79-cancers-16-04205" class="html-bibr">79</a>,<a href="#B80-cancers-16-04205" class="html-bibr">80</a>,<a href="#B81-cancers-16-04205" class="html-bibr">81</a>,<a href="#B82-cancers-16-04205" class="html-bibr">82</a>,<a href="#B84-cancers-16-04205" class="html-bibr">84</a>,<a href="#B85-cancers-16-04205" class="html-bibr">85</a>,<a href="#B86-cancers-16-04205" class="html-bibr">86</a>,<a href="#B87-cancers-16-04205" class="html-bibr">87</a>,<a href="#B88-cancers-16-04205" class="html-bibr">88</a>,<a href="#B93-cancers-16-04205" class="html-bibr">93</a>,<a href="#B94-cancers-16-04205" class="html-bibr">94</a>,<a href="#B96-cancers-16-04205" class="html-bibr">96</a>,<a href="#B97-cancers-16-04205" class="html-bibr">97</a>,<a href="#B98-cancers-16-04205" class="html-bibr">98</a>,<a href="#B102-cancers-16-04205" class="html-bibr">102</a>].</p>
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<p>Forest plot showing the results of a mixed-effects meta-analysis model, synthesizing data from 64 studies using the Restricted Maximum Likelihood (REML) method to estimate variance components. The model fit statistics include a log likelihood of −22.5703, deviance of 45.1406, Akaike Information Criterion (AIC) of 51.1406, Bayesian Information Criterion (BIC) of 57.5220, and a Corrected AIC (AICc) of 51.5544. Heterogeneity measures indicate substantial variability among studies, with τ<sup>2</sup> (residual heterogeneity) at 0.0194 (SE = 0.0064), <span class="html-italic">I</span><sup>2</sup> at 80.29%, and H<sup>2</sup> at 5.07. A significant residual heterogeneity is evident from the Q_E statistic (Q_E(<span class="html-italic">df</span> = 62) = 193.2016, <span class="html-italic">p</span> ≤ 0.0001). However, the moderator effect of physical exercise is not significant (Q_M(<span class="html-italic">df</span> = 1) = 0.0266, <span class="html-italic">p</span> = 0.8705) [<a href="#B40-cancers-16-04205" class="html-bibr">40</a>,<a href="#B41-cancers-16-04205" class="html-bibr">41</a>,<a href="#B42-cancers-16-04205" class="html-bibr">42</a>,<a href="#B43-cancers-16-04205" class="html-bibr">43</a>,<a href="#B44-cancers-16-04205" class="html-bibr">44</a>,<a href="#B45-cancers-16-04205" class="html-bibr">45</a>,<a href="#B46-cancers-16-04205" class="html-bibr">46</a>,<a href="#B47-cancers-16-04205" class="html-bibr">47</a>,<a href="#B48-cancers-16-04205" class="html-bibr">48</a>,<a href="#B49-cancers-16-04205" class="html-bibr">49</a>,<a href="#B50-cancers-16-04205" class="html-bibr">50</a>,<a href="#B51-cancers-16-04205" class="html-bibr">51</a>,<a href="#B52-cancers-16-04205" class="html-bibr">52</a>,<a href="#B53-cancers-16-04205" class="html-bibr">53</a>,<a href="#B54-cancers-16-04205" class="html-bibr">54</a>,<a href="#B55-cancers-16-04205" class="html-bibr">55</a>,<a href="#B56-cancers-16-04205" class="html-bibr">56</a>,<a href="#B57-cancers-16-04205" class="html-bibr">57</a>,<a href="#B58-cancers-16-04205" class="html-bibr">58</a>,<a href="#B59-cancers-16-04205" class="html-bibr">59</a>,<a href="#B60-cancers-16-04205" class="html-bibr">60</a>,<a href="#B61-cancers-16-04205" class="html-bibr">61</a>,<a href="#B62-cancers-16-04205" class="html-bibr">62</a>,<a href="#B63-cancers-16-04205" class="html-bibr">63</a>,<a href="#B64-cancers-16-04205" class="html-bibr">64</a>,<a href="#B65-cancers-16-04205" class="html-bibr">65</a>,<a href="#B66-cancers-16-04205" class="html-bibr">66</a>,<a href="#B67-cancers-16-04205" class="html-bibr">67</a>,<a href="#B68-cancers-16-04205" class="html-bibr">68</a>,<a href="#B69-cancers-16-04205" class="html-bibr">69</a>,<a href="#B70-cancers-16-04205" class="html-bibr">70</a>,<a href="#B71-cancers-16-04205" class="html-bibr">71</a>,<a href="#B72-cancers-16-04205" class="html-bibr">72</a>,<a href="#B73-cancers-16-04205" class="html-bibr">73</a>,<a href="#B74-cancers-16-04205" class="html-bibr">74</a>,<a href="#B75-cancers-16-04205" class="html-bibr">75</a>,<a href="#B76-cancers-16-04205" class="html-bibr">76</a>,<a href="#B77-cancers-16-04205" class="html-bibr">77</a>,<a href="#B78-cancers-16-04205" class="html-bibr">78</a>,<a href="#B79-cancers-16-04205" class="html-bibr">79</a>,<a href="#B80-cancers-16-04205" class="html-bibr">80</a>,<a href="#B81-cancers-16-04205" class="html-bibr">81</a>,<a href="#B82-cancers-16-04205" class="html-bibr">82</a>,<a href="#B83-cancers-16-04205" class="html-bibr">83</a>,<a href="#B84-cancers-16-04205" class="html-bibr">84</a>,<a href="#B85-cancers-16-04205" class="html-bibr">85</a>,<a href="#B86-cancers-16-04205" class="html-bibr">86</a>,<a href="#B87-cancers-16-04205" class="html-bibr">87</a>,<a href="#B88-cancers-16-04205" class="html-bibr">88</a>,<a href="#B89-cancers-16-04205" class="html-bibr">89</a>,<a href="#B90-cancers-16-04205" class="html-bibr">90</a>,<a href="#B91-cancers-16-04205" class="html-bibr">91</a>,<a href="#B92-cancers-16-04205" class="html-bibr">92</a>,<a href="#B93-cancers-16-04205" class="html-bibr">93</a>,<a href="#B94-cancers-16-04205" class="html-bibr">94</a>,<a href="#B95-cancers-16-04205" class="html-bibr">95</a>,<a href="#B96-cancers-16-04205" class="html-bibr">96</a>,<a href="#B97-cancers-16-04205" class="html-bibr">97</a>,<a href="#B98-cancers-16-04205" class="html-bibr">98</a>,<a href="#B99-cancers-16-04205" class="html-bibr">99</a>,<a href="#B100-cancers-16-04205" class="html-bibr">100</a>,<a href="#B101-cancers-16-04205" class="html-bibr">101</a>,<a href="#B102-cancers-16-04205" class="html-bibr">102</a>].</p>
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11 pages, 780 KiB  
Article
Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee
by Rachel K. Vanderscheldon, William R. Sukov, Juli-Anne Gardner, Catherine W. Rehder, Brynn Levy, Gopalrao V. Velagaleti, Reha M. Toydemir, Guilin Tang, Brittany Boles, Yang Cao, Christopher Mixon, Ying S. Zou, Caroline Astbury, Karen D. Tsuchiya and Jess F. Peterson
Genes 2024, 15(12), 1612; https://doi.org/10.3390/genes15121612 - 17 Dec 2024
Viewed by 215
Abstract
Background: The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation [...] Read more.
Background: The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Methods: Review and analyze 25 years (1999–2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors. The chromosomal abnormalities and overall performance were evaluated. Results: A total of 21 solid tumor challenges were administered during the period 1999–2018. No solid tumor challenges were administered during the period 2019–2023. Challenges consisted of metaphase images and accompanying clinical history for the evaluation of numerical and/or structural abnormalities. All 21 cases reached 80% grading consensus for abnormality recognition. However, five cases (24%) failed to reach consensus for nomenclature reporting by participating laboratories. These cases illustrate errors in reporting chromosomal abnormalities, including whole-arm translocations and those involving sex chromosomes. In addition, they highlight the challenges with differentiation of terminal and interstitial deletions, difficulties in identifying correct breakpoints, and omission of brackets in neoplastic cases. Conclusions: This comprehensive 25-year review demonstrates the exceptional proficiency of cytogenetic laboratories in accurately identifying chromosome abnormalities in solid tumors, while also highlighting the challenges of reporting specific types of chromosomal abnormalities. Full article
(This article belongs to the Special Issue Clinical Cytogenetics: Current Advances and Future Perspectives)
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<p>Representative metaphase cell that demonstrates t(11;22;15)(q24;q12;q15). This abnormality was challenged twice (2003B-7 and 2008A-4) and represents the variant t(11;22) that is observed in Ewing sarcoma.</p>
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<p>Representative metaphase cell from challenge 2006B-8. This challenge failed to meet 80% consensus for karyotype nomenclature. Three karyotypes were acceptable: 45,XX,der(3;8)(q10;q10)[5], 45,XX,der(3)t(3;8)(p11;q11.1),-8[5], and 45,XX,-3,der(8)t(3;8)(q11.1;p11.1)[5]. Most participants correctly identified and described a whole-arm translocation.</p>
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22 pages, 1587 KiB  
Article
Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort
by Nayan Bhowmik, Shawna R. Cook, Candace Croney, Shanis Barnard, Aynsley C. Romaniuk and Kari J. Ekenstedt
Genes 2024, 15(12), 1611; https://doi.org/10.3390/genes15121611 - 17 Dec 2024
Viewed by 229
Abstract
Background: Canine behavior plays an important role in the success of the human–dog relationship and the dog’s overall welfare, making selection for behavior a vital part of any breeding program. While behaviors are complex traits determined by gene × environment interactions, genetic [...] Read more.
Background: Canine behavior plays an important role in the success of the human–dog relationship and the dog’s overall welfare, making selection for behavior a vital part of any breeding program. While behaviors are complex traits determined by gene × environment interactions, genetic selection for desirable behavioral phenotypes remains possible. Methods: No genomic association studies of dog behavior to date have been reported on a commercial breeding (CB) cohort; therefore, we utilized dogs from these facilities (n = 615 dogs). Behavioral testing followed previously validated protocols, resulting in three phenotypes/variables [social fear (SF), non-social fear (NSF), and startle response (SR)]. Dogs were genotyped on the 710 K Affymetrix Axiom CanineHD SNP array. Results: Inbreeding coefficients indicated that dogs from CB facilities are statistically less inbred than dogs originating from other breeding sources. Heritability estimates for behavioral phenotypes ranged from 0.042 ± 0.045 to 0.354 ± 0.111. A genome-wide association analysis identified genetic loci associated with SF, NSF, and SR; genes near many of these loci have been previously associated with behavioral phenotypes in other populations of dogs. Finally, genetic risk scores demonstrated differences between dogs that were more or less fearful in response to test stimuli, suggesting that these behaviors could be subjected to genetic improvement. Conclusions: This study confirms several canine genetic behavioral loci identified in previous studies. It also demonstrates that inbreeding coefficients of dogs in CB facilities are typically lower than those in dogs originating from other breeding sources. SF and NSF were more heritable than SR. Risk allele and weighted risk scores suggest that fearful behaviors could be subjected to genetic improvement. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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<p>Manhattan plot and QQ plot for social fear in a CB cohort. Red and blue lines in the Manhattan plot indicate the Wald test <span class="html-italic">p</span>-values of 3.54 × 10<sup>−6</sup> (suggestive threshold) and 4.00 × 10<sup>−5</sup>, respectively. The genomic inflation factor (lambda) for the QQ plot is 1.016.</p>
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<p>Manhattan plot and QQ plot for non-social fear in a CB cohort. Red and blue lines in the Manhattan plot indicate the Wald test <span class="html-italic">p</span>-values of 3.54 × 10<sup>−6</sup> (suggestive threshold) and 4.00 × 10<sup>−5</sup>, respectively. The genomic inflation factor (lambda) for the QQ plot is 1.015.</p>
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<p>Manhattan plot and QQ plot for startle response in a cohort of dogs from CB facilities. Red and blue lines in the Manhattan plot indicate the Wald test <span class="html-italic">p</span>-values of 3.54 × 10<sup>−6</sup> (suggestive threshold) and 4.00 × 10<sup>−5</sup>, respectively. The genomic inflation factor (lambda) for the QQ plot is 1.037.</p>
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<p>Density plots comparing risk allele counts (cGRS) and weighted genetic risk scores (wGRS) between more fearful and less fearful dogs in a CB cohort: (<b>a</b>–<b>c</b>) density plots of cGRS (simple risk allele counts) for SF, NSF, and SR, respectively; and (<b>d</b>–<b>f</b>) density plots of wGRS (weighted risk scores) for SF, NSF, and SR, respectively. Note that the x- and y-axes are not identical for each panel.</p>
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21 pages, 4447 KiB  
Article
A Bi-Objective Model for the Location and Optimization Configuration of Kitchen Waste Transfer Stations
by Ming Wan, Ting Qu, George Q. Huang, Ruoheng Chen, Manna Huang, Yanghua Pan, Duxian Nie and Junrong Chen
Systems 2024, 12(12), 571; https://doi.org/10.3390/systems12120571 - 17 Dec 2024
Viewed by 273
Abstract
Since the implementation of China’s mandatory waste sorting policy, the recycling of kitchen waste has become one of the core tasks of waste classification. The problem of designing the locations and the optimization configuration strategy for kitchen waste transfer stations faces great challenges [...] Read more.
Since the implementation of China’s mandatory waste sorting policy, the recycling of kitchen waste has become one of the core tasks of waste classification. The problem of designing the locations and the optimization configuration strategy for kitchen waste transfer stations faces great challenges in reconstructing the municipal solid waste collection and transportation system. This paper establishes an integer programming model for the bi-objectives of the location and optimal configuration for a kitchen waste transfer station, with the goal of minimizing the total cost and overall negative environmental impact. An improved non-dominated sorting genetic algorithm with an elite strategy (NSGA-II) is used to solve the problem, resulting in a Pareto-optimal solution set that includes several non-dominated solutions, thereby providing diversified choices for decision-makers. Finally, a pilot case involving cooperative enterprises is used as an example in this study, and the results demonstrate the effectiveness of the model and algorithm, as well as their feasibility in practice. Full article
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<p>The recycling process of KW.</p>
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<p>The collection and transportation network for kitchen waste.</p>
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<p>The process of the improved NSGA-II.</p>
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<p>Distribution of KW deposit points and TS candidates within the pilot area (Blue dots represent deposit points, green squares represent TS candidates, and numbers represent numbering).</p>
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<p>Distribution of Pareto-optimal front solutions (F1 reflects the total cost, and F2 reflects the negative environmental effect).</p>
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<p>Distribution of the TSs and the allocation of the deposit points in the Pareto-optimal solutions.</p>
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<p>Comparison of improved NSGA-II and traditional NSGA-II Pareto-optimal frontiers.</p>
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<p>Comparison of different fixed construction costs of the TSs (F1 reflects the total cost, and F2 reflects the negative environmental effect).</p>
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<p>Pareto-optimal solutions corresponding to different tank capacities (F1 reflects the total cost, and F2 reflects the negative environmental effect).</p>
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<p>Pareto-optimal solutions corresponding to the different minimum loading rate of tanks (F1 reflects the total cost, and F2 reflects the negative environmental effect).</p>
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<p>Distribution of Pareto-optimal solutions under different waste volumes (F1 reflects the total cost, and F2 reflects negative environmental effects).</p>
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<p>Trends in the variation of the calculation results for different scales (values of <math display="inline"><semantics> <mi mathvariant="bold-italic">m</mi> </semantics></math>).</p>
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23 pages, 8508 KiB  
Article
Biodiversity of Sweet Cherry in Sardinia
by Luciano De Pau, Ana Fernandes de Oliveira, Alessandra Fabiana Frau, Maria Pia Rigoldi, Riccardo Di Salvo, Giandomenico Scanu and Daniela Satta
Diversity 2024, 16(12), 767; https://doi.org/10.3390/d16120767 - 17 Dec 2024
Viewed by 247
Abstract
The study of biodiversity is of fundamental importance in the context of environmental protection and eco-sustainable agriculture management. Its preservation has a key role and an extraordinary importance not only for the protection of potential gene pools, which is essential for selection and [...] Read more.
The study of biodiversity is of fundamental importance in the context of environmental protection and eco-sustainable agriculture management. Its preservation has a key role and an extraordinary importance not only for the protection of potential gene pools, which is essential for selection and breeding programs, but also because local varieties are the expression of a territory and therefore reflect culture, knowledge, and tradition heritage. In this paper, 27 local cherry varieties collected in different areas of Sardinia were characterized and described from different perspectives, including pomology and genetics, using SSR markers. A complete framework on the biodiversity of cherry trees in Sardinia is presented, in order to support an objective assessment of different cultivar traits, namely those of agronomical interest, and to support the dissemination and conservation of the historical fruit tree cultivation heritage. Full article
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<p>Tree canopy aspect and fruit characteristics of some Sardinian cherry varieties.</p>
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<p>Yield per plant during the 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Titratable acidity in 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Total soluble solids in 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Total anthocyanin content in 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Total phenol content in 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Peonidin-3-glucoside content in 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Malvidin-3-glucoside content in 2016 and 2017 seasons. Different letters indicate significant differences at ANOVA (LSD) for <span class="html-italic">p</span> ≤ 0.05.</p>
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<p>Cluster analysis dendrogram of the genetic distance among varieties based on the 8-SSR markers.</p>
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<p>Principal coordinates analysis (PCoA) of varieties based on the genetic distances among the 15 single profiles and 6 reference cultivar profiles.</p>
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<p>Spider chart of the sensory profile of Sardinian and national cherries. Values are the means of sensory attributes assessed with different replicates.</p>
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<p>Principal component analysis performed on sensory and hedonic profile of the different fruits (liking + global quality).</p>
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<p>Means and standard deviations of the acceptability test. Different letters indicate significant differences among the samples.</p>
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12 pages, 944 KiB  
Article
Genetic Composition of Polish Hucul Mare Families mtDNA Diversity
by Aleksandra Błaszczak, Monika Stefaniuk-Szmukier, Bogusława Długosz, Adrianna Dominika Musiał, Katarzyna Olczak and Katarzyna Ropka-Molik
Genes 2024, 15(12), 1607; https://doi.org/10.3390/genes15121607 - 17 Dec 2024
Viewed by 252
Abstract
Backround: The Hucul horse breed formed in the region of the Eastern Carpathians, likely through the natural crossbreeding of oriental horses. After World War II, their population significantly decreased, leading to the breeding being based on only 14 female lines, whose founders often [...] Read more.
Backround: The Hucul horse breed formed in the region of the Eastern Carpathians, likely through the natural crossbreeding of oriental horses. After World War II, their population significantly decreased, leading to the breeding being based on only 14 female lines, whose founders often had unknown origins. To preserve the breed’s unique characteristics, it is now part of a Genetic Resources Conservation Program, which prioritizes the maintenance of genetic diversity. This study aims to clarify the maternal relatedness of founder mares and assess genetic diversity using mitochondrial DNA (mtDNA). Methods: The hyper-variable region of the mitochondrial genome was analyzed in 57 horses. Pedigree records were used to trace genealogical lines, and molecular analysis focused on identifying maternal relationships between founder mares. Results: The analysis revealed close maternal kinships between the lines of Jagoda and Bajkałka, as well as Sekunda and Sroczka. In the Hucul population, seventeen mitochondrial haplotypes were identified, with three that did not match any established lines. The findings reveal discrepancies between pedigree records and mitochondrial DNA data, suggesting potential inaccuracies in the Hucul horse studbook. Conclusions: The findings highlight the importance of combining pedigree and molecular data to refine strategies to preserving genetic diversity, minimizing inbreeding, and improving the management the Genetic Resources Conservation Program. Full article
(This article belongs to the Section Population and Evolutionary Genetics and Genomics)
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<p>The circular neighbor-joining tree, with each horse represented by color and named according to the dam line information from the pedigree. Individuals with errors in the pedigree are marked with *. Next to the diagram, the oldest available photos of representatives of the female lines were placed, framed in the color corresponding to each line. The neighbor-joining tree was constructed using the Mega 11 software and edited in iTOL (available online: <a href="https://itol.embl.de" target="_blank">https://itol.embl.de</a>) and PowerPoint.</p>
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<p>The median-joining network of the identified Hucul horse haplotype and reference (NC_001640). Node sizes represent haplotype frequencies; partially black fragment represents contribution of one individual. If there is no black color, only one individual represents this haplotype. Mv1-9 are median vectors. The colors of highlighted areas refer to haplogroups identified by Jansen et al. (2002) [<a href="#B20-genes-15-01607" class="html-bibr">20</a>]: pink indicates haplogroup A, green—B, purple—C, yellow—D, orange—F, and blue—G. Strokes on the branches correspond to the number of polymorphisms.</p>
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22 pages, 2849 KiB  
Article
Evaluating TAB2, IKBKB, and IKBKG Gene Polymorphisms and Serum Protein Levels and Their Association with Age-Related Macular Degeneration and Its Treatment Efficiency
by Alvita Vilkeviciute, Enrika Pileckaite, Akvile Bruzaite, Dzastina Cebatoriene, Greta Gedvilaite-Vaicechauskiene, Loresa Kriauciuniene, Dalia Zaliuniene and Rasa Liutkeviciene
Medicina 2024, 60(12), 2072; https://doi.org/10.3390/medicina60122072 - 16 Dec 2024
Viewed by 493
Abstract
Background and Objectives: Age-related macular degeneration (AMD) is the leading cause of blindness, affecting millions worldwide. Its pathogenesis involves the death of the retinal pigment epithelium (RPE), followed by photoreceptor degeneration. Although AMD is multifactorial, various genetic markers are strongly associated with [...] Read more.
Background and Objectives: Age-related macular degeneration (AMD) is the leading cause of blindness, affecting millions worldwide. Its pathogenesis involves the death of the retinal pigment epithelium (RPE), followed by photoreceptor degeneration. Although AMD is multifactorial, various genetic markers are strongly associated with the disease and may serve as biomarkers for evaluating treatment efficacy. This study investigates TAB2 rs237025, IKBKB rs13278372, and IKBKG rs2472395 variants and their respective serum protein concentrations in relation to AMD occurrence and exudative AMD treatment response to anti-VEGF treatment. Materials and Methods: The case–control study involved 961 individuals, and they were divided into three groups: control, early AMD, and exudative AM patients. Genotyping of selected SNPs were conducted using a real-time polymerase chain reaction method (RT-PCR). Based on the clinical OCT and BCVA data, patients with exudative AMD were categorized into one of two groups: responders and non-responders. The data obtained were analyzed using the “IBM SPSS Statistics 29.0” software program. Results: Our study revealed that TAB2 rs237025 allele A was identified as a risk factor for early and exudative AMD development. The same associations remained only in females with exudative AMD but not in males, suggesting gender-specific pathogenetic pathways in exudative AMD. Analysis of IKBKB rs13278372 or serum IKBKB protein associations with early or exudative AMD occurrence in the Lithuanian population revealed no significant associations. On the other hand, we found that each A allele of IKBKB rs13278372 was associated with a worse response to anti-VEGF treatment (OR = 0.347; 95% CI: 0.145–0.961; p = 0.041). These results suggest a potential marker for future studies evaluating anti-VEGF treatment for exudative AMD patients. IKBKG rs2472395 was a protective variant for early AMD in males and for exudative AMD in females only. Also, IKBKG protein concentration was lower in exudative AMD relative to the control group (median (IQR): 0.442 (0.152) vs. 0.538 (0.337), p = 0.015). Moreover, exudative AMD patients who carry the GG genotype of IKBKG rs2472394 exhibited significantly reduced serum IKBKG concentrations compared to the controls (median (IQR): 0.434 (0.199) vs. 0.603 (0.335), p = 0.012), leading to the hypothesis that the IKBKG rs2472394 variant might play a role in protein concentration differences and exudative AMD development. Conclusions: Our study identified the TAB2 rs237025 allele A as a significant risk factor for both early and exudative AMD, with gender-specific associations observed in females with exudative AMD, suggesting distinct pathogenetic pathways. While IKBKB rs13278372 and serum IKBKB protein levels showed no significant association with AMD development, the A allele of IKBKB rs13278372 was associated with a worse response to anti-VEGF treatment, indicating its potential as a marker for treatment outcomes. Additionally, the IKBKG rs2472395 variant was found to be protective for early AMD in males and exudative AMD in females, and lower IKBKG protein levels were associated with exudative AMD, particularly in patients with the GG genotype of IKBKG rs2472394, suggesting its role in protein concentration and disease progression. These findings highlight genetic markers that may contribute to AMD pathogenesis and treatment response. Full article
(This article belongs to the Section Ophthalmology)
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<p>Study inclusion and exclusion criteria.</p>
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<p>PPI network generated for TAB2, IKBKB, and IKBKG. Types of interaction sources include coexpression (black), experimental data (purple), curation in databases (light blue), and text mining (lime). PPI enrichment <span class="html-italic">p</span>-value = 0.000469.</p>
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<p>Serum TAB2 levels in patients with early and exudative AMD and the control group; a Mann–Whitney U test was used; <span class="html-italic">p</span> values in bold are statistically significant.</p>
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<p>Serum IKBKB levels in patients with early and exudative AMD and the control group; a Mann–Whitney U test was used.</p>
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<p>Serum IKBKG levels in patients with early and exudative AMD and the control group; a Mann–Whitney U test was used; <span class="html-italic">p</span> values in bold are statistically significant.</p>
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<p>Serum IKBKG levels stratified by <span class="html-italic">IKBKG</span> genotypes across the control, early, and exudative AMD study groups; <span class="html-italic">p</span> values in bold are statistically significant.</p>
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31 pages, 44681 KiB  
Article
A Two-Phase and Bi-Level Spatial Configuration Methodology of Shelters Based on a Circular Assignment Model and Evacuation Traffic Flow Allocation
by Yujia Zhang, Wei Chen, Guangchun Zhong, Guofang Zhai and Wei Zhai
ISPRS Int. J. Geo-Inf. 2024, 13(12), 455; https://doi.org/10.3390/ijgi13120455 - 16 Dec 2024
Viewed by 236
Abstract
With the continued recognition of the devastating effects of natural hazards, the construction of shelters has become essential in urban disaster preparedness planning systems. After analyzing the deficiency of the conventional spatial allocation model of shelters and the hierarchy of evacuation assignments, this [...] Read more.
With the continued recognition of the devastating effects of natural hazards, the construction of shelters has become essential in urban disaster preparedness planning systems. After analyzing the deficiency of the conventional spatial allocation model of shelters and the hierarchy of evacuation assignments, this study proposes a bi-level and two-phase spatial configuration methodology of shelters. The first hierarchy aims to evacuate refugees from demand blocks to both emergency shelters and resident emergency congregate shelters. The second hierarchy aims to transfer refugees from selected shelters in the first hierarchy to resident emergency congregate shelters. Each hierarchy contains two phases of optimizing calculations. The optimization objects for the first phase and second phase are minimizing the number of new shelters and the evacuation time, respectively. A genetic algorithm and exhaustive approach are programmed to determine the solution of the model in the first and second phases, respectively. The evacuation assignment rule is proposed based on the gravity model, which distributes evacuees proportionally to nearby shelters. This study uses the deterministic user equilibrium problem to present the evacuation traffic flow allocation, which improves the scientificity of the location model of shelters. The refuge demands differentiate the population between daytime and nighttime through mobile signaling data and improve the accuracy from the plot scale to the building scale. Using mobile signaling data to differentiate refuge demands between day and night populations enhances the model’s precision. Finally, to validate the proposed methodology, this study selected the main area of Changshu City, Jiangsu Province, China, which has a population of 1.6 million, as a case study area. Full article
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<p>Framework of the methodology.</p>
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<p>Schematic plot of cyclic assignment model.</p>
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<p>Process of cyclic evacuation assignment model.</p>
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<p>Coverage area of the two-hierarchy shelters.</p>
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<p>Two-hierarchy transfer process of crowd evacuation.</p>
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<p>The relationship between different hierarchies of shelters.</p>
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<p>Chromosomes and their corresponding fitness function values.</p>
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<p>Generation of progeny chromosomes through crossover operation.</p>
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<p>Process diagram of the designed genetic algorithm in this study.</p>
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<p>Location and range of the study area.</p>
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<p>Basic spatial data of study area: (<b>a</b>) road network; (<b>b</b>) refuge demand areas and candidate shelters.</p>
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<p>Evacuation paths from demand blocks to shelters.</p>
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<p>Population distribution in the daytime.</p>
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<p>Population distribution in the nighttime.</p>
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<p>Structural damage assessment under earthquake with an intensity of 8 (building data from housing construction bureau of Changshu City).</p>
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<p>Results of safety assessment in study area.</p>
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<p>Suitable and unsuitable locations in the study area.</p>
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<p>Suitable shelters (built and unbuilt).</p>
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<p>The results of the first phase in the first hierarchy.</p>
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<p>The selected shelters in the first hierarchy.</p>
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<p>Frequency distributions of egress time in the first hierarchy.</p>
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<p>The results of the first phase in the second hierarchy.</p>
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<p>The selected shelters in the second hierarchy.</p>
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<p>Frequency distributions of evacuation time in the second hierarchy.</p>
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<p>All selected ESs and RSs.</p>
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21 pages, 324 KiB  
Review
Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide
by Soultana Papadopoulou, Areti Anagnostopoulou, Dimitra V. Katsarou, Kalliopi Megari, Efthymia Efthymiou, Alexandros Argyriadis, Georgios Kougioumtzis, Maria Theodoratou, Maria Sofologi, Agathi Argyriadi, Efterpi Pavlidou and Eugenia I. Toki
Children 2024, 11(12), 1526; https://doi.org/10.3390/children11121526 - 16 Dec 2024
Viewed by 476
Abstract
Background: A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal [...] Read more.
Background: A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral–motor dysfunctions. Objective: This study aims to investigate the effectiveness of speech and language intervention in addressing the multifaceted challenges of CdCS, including speech and language impairments, feeding difficulties, and social communication deficits. Methods: A narrative review was conducted to synthesize existing studies from the last 35 years on therapeutic interventions for individuals with CdCS. This review focused on interventions targeting speech, language, and swallowing therapy. Comprehensive searches were performed in the PubMed and Scopus databases using descriptors such as “Cri du Chat”, “swallowing disorders”, “speech disorders”, “speech and language disorders”, and “speech and language therapy.” From the identified records, 40 peer-reviewed English-language publications that addressed speech, language, and swallowing interventions were selected based on relevance and inclusion criteria. Data extraction was performed independently by four reviewers, working in two teams. Any disagreements between the teams were resolved through discussion with an independent researcher to ensure reliability and minimize bias. Results: The findings demonstrate that speech and language therapy (SLT) significantly enhances speech clarity, articulation, and oral–motor coordination. Augmentative communication systems effectively bridge gaps in nonverbal communication, fostering improved social interaction. Specific interventions reduce aspiration risks and improve feeding safety, enhancing the overall quality of life. Early multidisciplinary approaches and tailored therapeutic strategies are key to maximizing the benefits of SLT. Conclusions: SLT is crucial for improving communication, swallowing, and social integration in individuals with CdCS. Regular early intervention involving individualized programs and family participation is recommended to achieve optimal outcomes. Further research is needed to evaluate long-term effects and develop cultural and technologically adaptable therapies. Full article
(This article belongs to the Section Global Pediatric Health)
23 pages, 2180 KiB  
Article
A Multi-Objective Approach for Optimizing Virtual Machine Placement Using ILP and Tabu Search
by Mohamed Koubàa, Rym Regaieg, Abdullah S. Karar, Muhammad Nadeem and Faouzi Bahloul
Telecom 2024, 5(4), 1309-1331; https://doi.org/10.3390/telecom5040065 - 16 Dec 2024
Viewed by 310
Abstract
Efficient Virtual Machine (VM) placement is a critical challenge in optimizing resource utilization in cloud data centers. This paper explores both exact and approximate methods to address this problem. We begin by presenting an exact solution based on a Multi-Objective Integer Linear Programming [...] Read more.
Efficient Virtual Machine (VM) placement is a critical challenge in optimizing resource utilization in cloud data centers. This paper explores both exact and approximate methods to address this problem. We begin by presenting an exact solution based on a Multi-Objective Integer Linear Programming (MOILP) model, which provides an optimal VM Placement (VMP) strategy. Given the NP-completeness of the MOILP model when handling large-scale problems, we then propose an approximate solution using a Tabu Search (TS) algorithm. The TS algorithm is designed as a practical alternative for addressing these complex scenarios. A key innovation of our approach is the simultaneous optimization of three performance metrics: the number of accepted VMs, resource wastage, and power consumption. To the best of our knowledge, this is the first application of a TS algorithm in the context of VMP. Furthermore, these three performance metrics are jointly optimized to ensure operational efficiency (OPEF) and minimal operational expenditure (OPEX). We rigorously evaluate the performance of the TS algorithm through extensive simulation scenarios and compare its results with those of the MOILP model, enabling us to assess the quality of the approximate solution relative to the optimal one. Additionally, we benchmark our approach against existing methods in the literature to emphasize its advantages. Our findings demonstrate that the TS algorithm strikes an effective balance between efficiency and practicality, making it a robust solution for VMP in cloud environments. The TS algorithm outperforms the other algorithms considered in the simulations, achieving a gain of 2% to 32% in OPEF, with a worst-case increase of up to 6% in OPEX. Full article
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<p>Comparative analysis of VMP solutions: solution 1 vs. solution 2. (<b>a</b>) VMP solution 1; (<b>b</b>) VMP solution 2.</p>
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<p>An example of a VMP of three VMs over one PM. (<b>a</b>) A first example of a VMP of three VMs over one PM; (<b>b</b>) A second example of a VMP of three VMs over one PM.</p>
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<p>Graphical representation of the three-stage MOILP solution.</p>
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<p>Distribution of VM sizes for various values of <span class="html-italic">N</span>.</p>
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<p>Average percentage of hosted VMs.</p>
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<p>Average residual resource wastage.</p>
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<p>Average total power consumption.</p>
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<p>Average percentage of hosted VMs of type S.</p>
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<p>Average percentage of hosted VMs of type M.</p>
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<p>Average percentage of hosted VMs of type L.</p>
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<p>Average percentage of hosted VMs of type XL.</p>
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<p>Distribution of hosted VMs by type across PMs for <span class="html-italic">N</span> = 200.</p>
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<p>Average percentage of CPU usage among active PMs.</p>
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<p>Average percentage of RAM usage among active PMs.</p>
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<p>Average percentage of storage usage among active PMs.</p>
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<p>Average CPU execution time for various values of <span class="html-italic">N</span>.</p>
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16 pages, 2534 KiB  
Article
Mapping Methane—The Impact of Dairy Farm Practices on Emissions Through Satellite Data and Machine Learning
by Hanqing Bi and Suresh Neethirajan
Climate 2024, 12(12), 223; https://doi.org/10.3390/cli12120223 - 15 Dec 2024
Viewed by 336
Abstract
Methane emissions from dairy farms are a significant driver of climate change, yet their relationship with farm-specific practices remains poorly understood. This study employs Sentinel-5P satellite-derived methane column concentrations as a proxy to examine emission dynamics across 11 dairy farms in Eastern Canada, [...] Read more.
Methane emissions from dairy farms are a significant driver of climate change, yet their relationship with farm-specific practices remains poorly understood. This study employs Sentinel-5P satellite-derived methane column concentrations as a proxy to examine emission dynamics across 11 dairy farms in Eastern Canada, using data collected between January 2020 and December 2022. By integrating advanced analytics, we identified key drivers of methane concentrations, including herd genetics, feeding practices, and management strategies. Statistical tools such as Variance Inflation Factor (VIF) and Principal Component Analysis (PCA) addressed multicollinearity, stabilizing predictive models. Machine learning approaches—Random Forest and Neural Networks—revealed a strong negative correlation between methane concentrations and the Estimated Breeding Value (EBV) for protein percentage, demonstrating the potential of genetic selection for emissions mitigation. Our approach refined concentration estimates by integrating satellite data with localized atmospheric modeling, enhancing accuracy and spatial resolution. These findings highlight the transformative potential of combining satellite observations, machine learning, and farm-level characteristics to advance sustainable dairy farming. This research underscores the importance of targeted breeding programs and management strategies to optimize environmental and economic outcomes. Future work should expand datasets and apply inversion modeling for finer-scale emission quantification, advancing scalable solutions that balance productivity with ecological sustainability. Full article
(This article belongs to the Special Issue Applications of Smart Technologies in Climate Risk and Adaptation)
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<p>Schematic representation of the data analysis process, including data collection, feature analysis, and machine learning modeling to assess the relationship between dairy farm characteristics and methane emissions.</p>
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<p>Visual representation of the correlations between various dairy farm factors. The color intensity indicates the strength of correlation, with darker colors representing stronger correlations.</p>
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<p>Correlation of dairy farm factors with methane concentration. Bar chart showing the correlation coefficients between individual dairy farm characteristics and methane concentration (ppb). Positive values indicate positive correlations, while negative values indicate inverse relationships.</p>
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<p>Performance comparison of machine learning models for methane prediction. Comparison of R-squared values and mean squared errors (MSEs) for Random Forest and Neural Network models applied to datasets processed with Variance Inflation Factor (VIF) and Principal Component Analysis (PCA).</p>
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<p>Feature importance in predicting methane emissions from dairy farms. Ranking of dairy farm characteristics based on their importance in predicting methane emissions, as determined by the Random Forest model. Higher values indicate greater importance in the prediction model.</p>
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25 pages, 6074 KiB  
Article
Cooperative Low-Carbon Trajectory Planning of Multi-Arrival Aircraft for Continuous Descent Operation
by Cun Feng, Chao Wang, Hanlu Chen, Chenyang Xu and Jinpeng Wang
Aerospace 2024, 11(12), 1024; https://doi.org/10.3390/aerospace11121024 - 15 Dec 2024
Viewed by 306
Abstract
To address the technical challenges of implementing Continuous Descent Operations (CDO) in high-traffic-density terminal control areas, we propose a cooperative low-carbon trajectory planning method for multiple arriving aircraft. Firstly, this study analyzes the CDO phases of aircraft in the terminal area, establishes a [...] Read more.
To address the technical challenges of implementing Continuous Descent Operations (CDO) in high-traffic-density terminal control areas, we propose a cooperative low-carbon trajectory planning method for multiple arriving aircraft. Firstly, this study analyzes the CDO phases of aircraft in the terminal area, establishes a multi-phase optimal control model for the vertical profile, and introduces a novel vertical profile optimization method for CDO based on a genetic algorithm. Secondly, to tackle the challenges of CDO in busy terminal areas, a T-shaped arrival route structure is designed to provide alternative paths and to generate a set of four-dimensional (4D) alternative trajectories. A Mixed Integer Programming (MIP) model is constructed for the 4D trajectory planning of multiple aircraft, aiming to maximize the efficiency of arrival traffic flow while considering conflict constraints. The complex constrained MIP problem is transformed into an unconstrained problem using a penalty function method. Finally, experiments were conducted to evaluate the implementation of CDO in busy terminal areas. The results show that, compared to actual operations, the proposed optimization model significantly reduces the total aircraft operating time, fuel consumption, CO2 emissions, SO2 emissions, and NOx emissions. Specifically, with the optimization objective of minimizing total cost, the proposed method reduces the total operation time by 22.4%; fuel consumption, CO2 emissions, SO2 emissions by 22.9%, and NOx emissions by 23.7%. The method proposed in this paper not only produces efficient aircraft sequencing results, but also provides a feasible low-carbon trajectory for achieving optimal sequencing. Full article
(This article belongs to the Section Air Traffic and Transportation)
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<p>A typical CDO process of an arrival aircraft.</p>
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<p>The explicit guidance for aircraft speed control.</p>
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<p>A simplified standard terminal arrival route for busy terminal areas.</p>
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<p>(<b>a</b>) Traditional open path arrival route structure to downwind leg; (<b>b</b>) T-shaped arrival route structure.</p>
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<p>Alternative route assembly schematic.</p>
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<p>Alternative set of 4D trajectories based on downwind leg segmentation.</p>
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<p>Correspondence between flight distance and time of critical waypoint.</p>
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<p>The chromosome model of decision variables in the MIP planning model.</p>
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<p>Diagram illustrating priority landing for aircraft on a direct final approach.</p>
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<p>Standard arrival flight procedures of ZSQD TMA.</p>
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<p>Alternative routes of T-shaped arrival route structure (schematic diagram not to scale).</p>
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<p>Actual and optimized vertical profile of B737-800.</p>
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<p>Variation in flight time and fuel consumption with different optimization objectives. (<b>a</b>) Flight time distribution; (<b>b</b>) fuel consumption distribution.</p>
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<p>Space–time diagram of multi-aircraft trajectory planning. Analysis of selected alternative routes and waiting times with the objective of minimizing total cost.</p>
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<p>Horizontal trajectory comparison. (<b>a</b>) Actual horizontal trajectories; (<b>b</b>) optimized horizontal trajectories.</p>
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<p>Vertical profile comparison. (<b>a</b>) Actual trajectory vertical profile; (<b>b</b>) optimized altitude profile.</p>
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<p>Fuel flow comparison of Aircraft 11. (<b>a</b>) Actual trajectory fuel profile; (<b>b</b>) optimized trajectory fuel profile.</p>
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<p>Comparison of fuel consumption of the 22 aircraft.</p>
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<p>The distribution of flight times under different numbers of arrival flights.</p>
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29 pages, 6054 KiB  
Article
A Bi-Level Optimization Approach to Network Flow Management Incorporating Travelers’ Herd Effect
by Shihao Li, Bojian Zhou, Min Xu and Xiaoxiao Dong
Mathematics 2024, 12(24), 3923; https://doi.org/10.3390/math12243923 - 13 Dec 2024
Viewed by 384
Abstract
Herd effect is a widespread phenomenon in real-world situations. This study explores how the herd effect can be used to manage network flow effectively. We examined its impact on travelers’ route choices and propose a mixed network flow evolution process that incorporates the [...] Read more.
Herd effect is a widespread phenomenon in real-world situations. This study explores how the herd effect can be used to manage network flow effectively. We examined its impact on travelers’ route choices and propose a mixed network flow evolution process that incorporates the herd effect, considering two types of travelers: those who receive route subsidy information and those who do not. Based on this evolution process, we developed a bi-level optimization model to determine the optimal subsidized routes, the subsidy amounts per kilometer, and the proportion of travelers receiving subsidy information. A hybrid algorithm with two iterative procedures was proposed to solve the model, in which the adaptive genetic algorithm (AGA) was employed to solve the upper-level nonlinear mixed-integer programming problem, and the partial linearization method was used to solve the lower-level network flow evolution process. Numerical results indicate that the presence of herd effect can effectively reduce both the total travel time of the network and the overall subsidy costs. The findings of this study have significant implications for the utilization of the herd effect in designing navigation software and developing congestion pricing strategies. Full article
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<p>The search results of a destination in the navigation software DiDi. DiDi Chuxing (V6.9.16).</p>
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<p>An example of route choice scenarios in the SP survey.</p>
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<p>Flowchart of the route-based subsidy scheme with herd effect.</p>
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<p>Iterative process of the major iteration.</p>
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<p>Iterative process of the minor iteration.</p>
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<p>The example network used for the numerical experiment.</p>
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<p>Optimal route flow results from the bi-level optimization model.</p>
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<p>Comparison of flow on each subsidized route with and without the herd effect.</p>
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<p>Comparison of AGA- and SGA-based hybrid algorithms in terms of iteration numbers.</p>
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<p>Comparison of AGA- and SGA-based hybrid algorithms in terms of computational time.</p>
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<p>Effect of the weighting parameter <math display="inline"><semantics> <mi>λ</mi> </semantics></math> on the total subsidy cost.</p>
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<p>Effect of the weighting parameter <math display="inline"><semantics> <mi>λ</mi> </semantics></math> on the system travel time.</p>
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<p>Effect of the available budget <math display="inline"><semantics> <mi>U</mi> </semantics></math> on the total subsidy cost.</p>
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<p>Effect of the available budget <math display="inline"><semantics> <mi>U</mi> </semantics></math> on the system travel time.</p>
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<p>Comparison of route flows under different <math display="inline"><semantics> <mi>λ</mi> </semantics></math> values with no subsidy schemes.</p>
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<p>Comparison of route flows under different budget values with no subsidy schemes.</p>
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