Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS by Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée

“…Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene. Here, we report four cases with educational significance, highlighting typical diagnostic features that facilitate the differentiation between these two conditions, thereby assisting clinicians and medical laboratory professionals in effectively managing and monitoring these patients.…”
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A Case Presentation of a Patient with Microsatellite Instability and BRAF Mutant Metastatic Colon Cancer and Bibliography Update by K. Thomopoulou, M. Tzardi, D. Mavroudis, I. Souglakos

“…Genetic testing revealed the BRAFV600E mutation and mismatch repair deficiency (dMMR). After progressing on 1st line chemotherapy, the patient has a continuing and long-lasting partial response to 2nd line treatment with pembrolizumab.…”
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Charging Guidance of Electric Taxis Based on Adaptive Particle Swarm Optimization by Liyong Niu, Di Zhang

“…An electric taxis charging guidance model is established and guides the charging based on the positions of taxis and charging stations with adaptive mutation particle swarm optimization. The simulation is based on the actual data of Shenzhen charging stations, and the results show that electric taxis can be evenly distributed to the appropriate charging stations according to the charging pile numbers in charging stations after the charging guidance. …”
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Cement Transport Vehicle Routing with a Hybrid Sine Cosine Optimization Algorithm by Vu Hong Son Pham, Van Nam Nguyen

“…The sine cosine algorithm is hybridized with the grey wolf optimizer, which is used in combination with the methods of tournament selection, opposition learning, and the mutation and crossover method to build the optimal routing plan for the means of transporting cement. …”
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Side-stepping the guardian of the genome: current cancer therapeutics targeting mutant p53 by Iulianna C. Taritsa, Eric T. Fossel

“…However, the approach has faced numerous barriers to clinical efficacy due to several factors: mutations in p53 occur in almost half of all human cancers, mutations are cancer-specific, and the associated genomic changes grant mutant p53 with oncogenic potential unique from that of wild-type p53. …”
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An Island Grouping Genetic Algorithm for Fuzzy Partitioning Problems by S. Salcedo-Sanz, J. Del Ser, Z. W. Geem

“…Our approach hinges on a GGA devised for fuzzy clustering by means of a novel encoding of individuals (containing elements and clusters sections), a new fitness function (a superior modification of the Davies Bouldin index), specially tailored crossover and mutation operators, and the use of a scheme based on a local search and a parallelization process, inspired from an island-based model of evolution. …”
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Contingency-Constrained Optimal Power Flow Using Simplex-Based Chaotic-PSO Algorithm by Zwe-Lee Gaing, Chia-Hung Lin

“…The experimental results show that the SCPSO-based CC-OPF method has suitable mutation schemes, thus showing robustness and effectiveness in solving contingency-constrained OPF problems.…”
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Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

“…In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.…”
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Design and digital transition. New design-driven challenges for techno-social innovation by Salvatore Di Dio, Benedetto Inzerillo, Francesco Monterosso, Dario Russo

“…Starting from theoretical reflections and multidisciplinary contributions, this paper focuses on the strategic importance of techno-social innovation, critically illustrating some significant design-driven experiences that outline innovative lines of development in the field of design research: WASP’s experimental activity (3D printing), Manzini’s reflections on hybrid local communities and cities in chaotic mutation, the projects of hacktivists Persico and Iaconesi on open source artificial intelligence, the experiences of frugal technological innovation with high social impact in the Planet’s most challenging economic, environmental and social contexts, and, finally, the bold projections on the food of the future with the related problematic experiments on production systems and lifestyles. …”
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Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome by Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee

“…NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). …”
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Structural Analysis of Backfill Highway Subgrade on the Lower Bearing Capacity Foundation Using the Finite Element Method by Wenjuan Xu, Xin Huang, Jiandong Huang, Zhengjun Yang

“…The results showed that the slope stability analysis model established by the strength reduction method can characterize the stability of the slope by calculating the slope safety coefficient. The mutation point of the relationship curve between the displacement generated in the slope and the reduction coefficient can be used as the criterion. …”
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An Improved Hierarchical Genetic Algorithm for Sheet Cutting Scheduling with Process Constraints by Yunqing Rao, Dezhong Qi, Jinling Li

“…Furthermore, to speed up convergence rates and resolve local convergence issues, a kind of adaptive crossover probability and mutation probability is used in this algorithm. The computational result and comparison prove that the presented approach is quite effective for the considered problem.…”
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Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon by A. M. Kuzminov, A. V. Karpukhin, I. Yu. Sachkov, Yu. Yu. Chubarov, T. A. Savel’yeva

“…Of all patients 60,2 % had classical form of disease, 24,4% – aggressive, 15,4% – attenuated. At attenuated form mutation in АРС gene occurred within 450 and 510 codons and on the edges of this gene that allows both to reveal disease at preclinical stage, and to identify the attenuated variant. …”
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Study on Dynamic Characteristics and Parameter Influence of a Kind of Bilateral Restraint Impact Vibration System by Li Ding, Shangshang Cheng, Kaifei Zhang, Jiajun Chai, He Li, Chengdong Niu, Chao Cao

“…The simulation results show that the system moves in a single degree of freedom and varies with parameters with multiplicative period bifurcation and rubbing edge bifurcation leading to chaos; the system’s periodic motion has shock state mutation and mirror jump transformation.…”
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A Novel Hybrid Bat Algorithm with Harmony Search for Global Numerical Optimization by Gaige Wang, Lihong Guo

“…The improvement includes the addition of pitch adjustment operation in HS serving as a mutation operator during the process of the bat updating with the aim of speeding up convergence, thus making the approach more feasible for a wider range of real-world applications. …”
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Colonic Polyps in Children and Adolescents by Carol A Durno

“…Attenuated familial adenamatous polyposis (AFAP) can occur either by a mutation at the extreme ends of the adenomatous polyposis coli gene or by biallelic mutations in the mutY homologue (MYH) gene. …”
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Pulmonary Alveolar Microlithiasis: A Unique Case of Familial PAM Complicated by Transplant Rejection by Austin Helmink, Samir Atiya, Ernesto Martinez Duarte

“…PAM is a rare lung disease caused by a mutation in the SLC34A2 gene, which encodes for a sodium-phosphate cotransporter in type II alveolar cells, leading to accumulation of intra-alveolar phosphate causing microlith formation. …”
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The roles of KRAS in cancer metabolism, tumor microenvironment and clinical therapy by Qinglong Ma, Wenyang Zhang, Kongming Wu, Lei Shi

“…Abstract KRAS is one of the most mutated genes, driving alternations in metabolic pathways that include enhanced nutrient uptaking, increased glycolysis, elevated glutaminolysis, and heightened synthesis of fatty acids and nucleotides. …”
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Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature by Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura

“…This case expands the mutation spectrum of IGFALS to include the elimination of only one N-glycosylation motif of ALS.…”
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Acute Aortic Dissection in Pregnancy in a Woman with Undiagnosed Marfan Syndrome by Mandana Master, Gavin Day

“…Genetic testing also confirmed that she has a mutation of the fibrillin (FBN 1) gene associated with the disease.…”
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