Non-cirrhotic Splenic-portal Thrombosis, non-tumoral Polycitemia Vera: an Infrequent Association by Samuel Sánchez Sánchez, Karina Rivero García, Osvaldo Rodríguez Morales, René Rivero Rodríguez

“…Bone morrow biopsy concluded a three series hyperplasia, the determination of JAK2V617F mutation was positive. The low incidence of polycitemia vera and its unusual way of presenting as thromobosis of splenic-portal system motivated the presentation of this case.…”
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Towards a Molecular Understanding of the Fanconi Anemia Core Complex by Charlotte Hodson, Helen Walden

“…There are currently 14 verified FA genes, where mutation of any single gene prevents repair of DNA interstrand crosslinks (ICLs). …”
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Relapsing Malaria: A Case Report of Primaquine Resistance by Christopher Dijanic, Jillian Nickerson, Sunita Shakya, Amanda Dijanic, Marilyn Fabbri

“…However, in patients with repeated treatment failure, we must consider CYP-450 mutations affecting drug metabolism as an important cause of relapse. …”
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A Toxicological Evaluation of a Standardized Hydrogenated Extract of Curcumin (CuroWhite™) by Alastimmanahalli Narasimhiah Ravikumar, Joby Jacob, Sreeraj Gopi, Tumkur Subbarao Jagannath

“…The test item was not mutagenic in the bacterial reverse mutation test or in vitro mammalian chromosomal aberration test, and no in vivo genotoxic activity was observed in rat bone marrow in the micronucleus test. …”
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Diverse Linguistic Development in Prelingually Deaf Children with Cochlear Implants by Pia De Stefano, Francesco Pisani, Giuseppe Cossu

“…We report 4 prelingually deaf children (mean age=10.5; SD=1.08), affected by a genetically determined bilateral deafness, due to GJB2 gene mutation Cx26. Each implanted child underwent a systematic assessment of speech perception and production, as well as of lexical, morphologic, and syntactic skills in both comprehension and production. …”
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Enhanced Polar Lights Optimization with Cryptobiosis and Differential Evolution for Global Optimization and Feature Selection by Yang Gao, Liang Cheng

“…The original PLO’s particle collision strategy is replaced with DE’s mutation and crossover operators, enabling a more effective global exploration and using a dynamic crossover rate to improve convergence. …”
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Testing Homogeneity in a Semiparametric Two-Sample Problem by Yukun Liu, Pengfei Li, Yuejiao Fu

“…This problem arises naturally from many statistical applications such as test for partial differential gene expression in microarray study or genetic studies for gene mutation. Under the semiparametric assumption g(x)=f(x)eα+βx, a penalized empirical likelihood ratio test could be constructed, but its implementation is hindered by the fact that there is neither feasible algorithm for computing the test statistic nor available research results on its theoretical properties. …”
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The phenomenon of mobbing in Serbia and Europe by Trišić Marko, Petrović Jovana, Garabinović Dušan

“…The dose of seriousness concerning the issue of mobbing isn’t only given for its negative effect on a business organization, but also for the mutation of a society’s culture, as well. The research paper outlines the mobbing phenomenon by presenting the theoretical and practical (statistical) diagnosis through which, for a better understanding of the situation, there are added testimonies of mobbing victims, as well as legal and extra-judicial solutions for the issue. …”
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Determination of Slope Safety Factor with Analytical Solution and Searching Critical Slip Surface with Genetic-Traversal Random Method by Wen-jie Niu

“…The Genetic-Traversal Random Method uses random pick to utilize mutation. A computer automatic search program is developed for the Genetic-Traversal Random Method. …”
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Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency by Ingrid Nermoen, Ivar Følling, Kjetil Vegge, Arne Larmo, Bjørn Gunnar Nedrebø, Eystein Sverre Husebye, Kristian Løvås

“…The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. …”
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Les Enjeux ekphrastiques de la montagne à l’époque romantique by Michel Morel

“…The ekphrastic mediation thus serves as a catalyst for a whole contemporary culture seized in its very mutation, at the same time as it foregrounds the other fundamental dimension of mountains, the illumination and the sense of distance promised, if not granted, to the climber, in the here and now…”
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A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees by Qiuting Dong, Jinxia Zhao, Zhongqiang Yao, Xiangyuan Liu, Huiying He

“…The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease (PID). …”
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A Hybrid Ant Colony Optimization for Dynamic Multidepot Vehicle Routing Problem by Haitao Xu, Pan Pu, Feng Duan

“…Then a hybrid ant colony optimization (HACO) with mutation operation and local interchange is introduced to optimize vehicle routes. …”
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ROLE OF HETEROZYGOUS TUMOR SUPPRESSORS IN THE LIFE LONGEVITY OF DROSOPHILA MELANOGASTER by S. A. Kopyl, L. V. Omelyanchuk, M. V. Shaposhnikov, A. A. Moskalev

“…The analysis of Gompertz curve parameters indicates that the l(3)hem, hyd or gd mutations increase age-related parameter (α) in males, while gd mutation increases the death background parameter (R) and the ex agerelated parameter in females. …”
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Unique Aspects of Cryptochrome in Chronobiology and Metabolism, Pancreatic β-Cell Dysfunction, and Regeneration: Research into Cysteine414-Alanine Mutant CRY1 by Satoshi Okano

“…Transgenic mice (Tg mice), ubiquitously expressing mouse CRY1 having a mutation in which cysteine414 (the zinc-binding site of CRY1) being replaced with alanine, display unique phenotypes in their circadian rhythms. …”
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Empirical Study of Multi-Objective Risk Portfolio Optimization Based on NSGA-II by Qian Gao, Aleš Kresta

“…The approach involves constructing portfolios, initializing the population using the Non-Dominated Sorting Genetic Algorithm II (NSGA-II), and employing crossover and mutation steps to achieve Pareto optimality. Additionally, this study compares the performance of two risk minimization strategies through traditional portfolio backtesting. …”
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The role of the patients register in early diagnostics of familial adenomatosis coli by A. M. Kuzminov, A. V. Karpuhin, Yu. Yu. Chubarov, I. Yu. Sachkov, T. A. Savel’yeva

“…Genetic testing detected disease at preclinical stage in 18 (56%) of 32 actively investigated relatives of proposituses, allowed to form the risk group of patients from АРС-negative families and to remove patients who have not inherited АРС (Adenomatous Polyposis Coli) mutation from further observation.Conclusion. Presence of the Register of patients with familial adenomatosis coli promotes early diagnostics, improves of results of treatment and optimize monitoring of this category of patients.…”
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A Selection Hyper-Heuristic Algorithm for Multiobjective Dynamic Economic and Environmental Load Dispatch by Le Yang, Dakuo He, Bo Li

“…A selection hyper-heuristic algorithm is proposed to solve the problems. Three heuristic mutation operators formed a low-level operator pool to direct search the solution space of DEED. …”
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Dystrophic Epidermolysis Bullosa in Pregnancy: A Case Report of the Autosomal Dominant Subtype and Review of the Literature by Nicole Colgrove, Rayan Elkattah, Howard Herrell

“…Dystrophic EB results from mutations in COL7A1 gene coding for type VII collagen leading to blister formation within the dermis. …”
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Dysmorphological Delineation of Orofaciodigital Syndrome Type I. Presentation of a Case and Literature Review by Noel Taboada Lugo, Ana María Rodríguez Díaz, Tairí Borges García

“…The presence of facial, oral and digital dysmorphisms allowed the diagnosis to be made through the clinical method, given the absence of family history that would explain the presence of the disease as a result of a new mutation. Its interest lies in presenting the phenotypic delineation of a rare syndrome, which can manifest with a mild clinical expression or associated with important dysmorphological alterations.…”
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