857 research outputs found

    A Sequential Heuristic for the Efficient Management of a Work Center’s Stocking Area

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    In our partnership with a leading company specializing in automatic cutting machines for reinforcement processes, we address the management of a work center whose optimization calls for the solution of four distinct subproblems. Focusing on the third one, the subproblem asks for the effective packing of items on the identical buffers of a stocking area. The items arrive divided into subgroups (i.e., patterns), are associated with orders, and have time windows. We devise an SVC heuristic that efficiently determines feasible packing solutions while simultaneously minimizing the number of used buffers, lowering operations and fragmented orders. The SVC incorporates the idea of reachable points to restrict the location sets on the buffers. The experimental campaign highlights the SVC’s effectiveness in achieving optimality for small realistic instances, with a specific emphasis on reducing fragmented orders. Additionally, the approach showcased its ability to explore the multi-objective space and demonstrated scalability in solving practical instances

    NGF-response of EGF-dependent progenitor cells obtained from human sympathetic ganglia

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    SIGNALLING molecules are thought to play a significant role in determining the fate of neural crest progenitor cells. The human sympathetic chain was identified at 6.5, 7.5, 8.2, 10.2 and 11.4 postconception (PC) weeks demonstrating low affinity nerve growth factor (NGF) receptors, and was processed for tissue culture. In the presence of epidermal growth factor (EGF), floating spheres of proliferating progenitor cells were developed in vitro. In the absence of EGF progenitor cells differentiated into tyrosine hydroxylase (TH)-immunoreactive neuronal and TH-negative flat cells. NGF treatment significantly increased neurite outgrowth and survival of TH-immunoreactive cells. The multipotent cells we isolated differ from previously reported sympathoadrenal progenitors in that they give rise to TH immunoreactive neurones precociously sensitive to NGF

    Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

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    Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs). Sanger sequencing is unable to identify CNVs and therefore Multiplex Ligation Probe amplification (MLPA) or Multiplex Amplicon Quantification (MAQ) is used to complete the BRCA1/2 genes analysis. The rapid evolution of Next Generation Sequencing (NGS) technologies allows the search for point mutations and CNVs with a single platform and workflow. In this study we test the possibilities of NGS technology to simultaneously detect point mutations and CNVs in BRCA1/2 genes, using the OncomineTM BRCA Research Assay on Personal Genome Machine (PGM) Platform with Ion Reporter Software for sequencing data analysis (Thermo Fisher Scientific). Comparison between the NGS-CNVs, MLPA and MAQ results shows how the NGS approach is the most complete and fast method for the simultaneous detection of all BRCA mutations, avoiding the usual time consuming multistep approach in the routine diagnostic testing of hereditary breast and ovarian cancers

    Bi-Objective Community Detection (BOCD) in Networks using Genetic Algorithm

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    A lot of research effort has been put into community detection from all corners of academic interest such as physics, mathematics and computer science. In this paper I have proposed a Bi-Objective Genetic Algorithm for community detection which maximizes modularity and community score. Then the results obtained for both benchmark and real life data sets are compared with other algorithms using the modularity and MNI performance metrics. The results show that the BOCD algorithm is capable of successfully detecting community structure in both real life and synthetic datasets, as well as improving upon the performance of previous techniques.Comment: 11 pages, 3 Figures, 3 Tables. arXiv admin note: substantial text overlap with arXiv:0906.061

    An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

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    We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same :c.6872-1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation

    CLASH-VLT: Testing the Nature of Gravity with Galaxy Cluster Mass Profiles

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    We use high-precision kinematic and lensing measurements of the total mass profile of the dynamically relaxed galaxy cluster MACS J1206.2-0847 at z=0.44z=0.44 to estimate the value of the ratio η=Ψ/Φ\eta=\Psi/\Phi between the two scalar potentials in the linear perturbed Friedmann-Lemaitre-Robertson-Walker metric.[...] Complementary kinematic and lensing mass profiles were derived from exhaustive analyses using the data from the Cluster Lensing And Supernova survey with Hubble (CLASH) and the spectroscopic follow-up with the Very Large Telescope (CLASH-VLT). Whereas the kinematic mass profile tracks only the time-time part of the perturbed metric (i.e. only Φ\Phi), the lensing mass profile reflects the contribution of both time-time and space-space components (i.e. the sum Φ+Ψ\Phi+\Psi). We thus express η\eta as a function of the mass profiles and perform our analysis over the radial range 0.5 Mpc≤r≤r200=1.96 Mpc0.5\,Mpc\le r\le r_{200}=1.96\,Mpc. Using a spherical Navarro-Frenk-White mass profile, which well fits the data, we obtain \eta(r_{200})=1.01\,_{-0.28}^{+0.31} at the 68\% C.L. We discuss the effect of assuming different functional forms for mass profiles and of the orbit anisotropy in the kinematic reconstruction. Interpreting this result within the well-studied f(R)f(R) modified gravity model, the constraint on η\eta translates into an upper bound to the interaction length (inverse of the scalaron mass) smaller than 2 Mpc. This tight constraint on the f(R)f(R) interaction range is however substantially relaxed when systematic uncertainties in the analysis are considered. Our analysis highlights the potential of this method to detect deviations from general relativity, while calling for the need of further high-quality data on the total mass distribution of clusters and improved control on systematic effects.Comment: 18 pages, 3 figures, submitted to JCA

    X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

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    Background: Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approaches improved the diagnostic yield, elucidating previously unexplained RP causes and new genotype-phenotype correlations. The objective of this study was to reevaluate a previously reported family affected by Coats’-type RP without genetic diagnosis and to describe the new genetic findings. Case presentation: Cohort, prospective, and single-center observational family case. Three individuals of a family, consisting of a mother and four sons, with a Coats phenotype were revaluated after 25 years of clinical follow-up using visual acuity tests, ophthalmoscopy, Goldmann visual field, electroretinography (ERG), and spectral domain-optical coherence tomography (SD-OCT). Specifically, a RP NGS panel was performed on one member of the family and segregation analysis was required for the other affected and unaffected members. NGS analysis disclosed a RPGR (Retinitis Pigmentosa GTPase Regulator) gene truncating variant segregating with the phenotype in all the three affected members. RPGR mutations are reported as causative of an X-linked RP. Conclusions: This is the first reported family with a Coats’-type RP associated to a RPGR mutation and segregating as a dominant X-linked disease, confirming the hypothesis of the genetic origin of this condition and expanding the phenotypic spectrum of diseases caused by RPGR gene mutations. The Authors suggest RPGR gene screening mutations in patients presenting this phenotype

    Synthesis of Diiodo-Functionalized Benzo[b] furans via Electrophilic Iodocyclization

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    An electrophilic iodocyclization reaction involving alkynylated 2-iodoanisoles and molecular iodine in the presence of sodium bicarbonate was developed and diiodo-functionalized benzo[b] furans were obtained in yields from 45 to 99%.Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)Fundacao de Apoio ao Desenvolvimento do Ensino, Ciencia e Tecnologia do Estado de Mato Grosso do Sul (FUNDECT)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Fundacao Univ Fed Grande Dourados, Grp Pesquisa Sintese & Caracterizacao Mol MS, Rua Joao Rosa Goes,1761, BR-79825070 Dourados, MS, BrazilUniv Fed Sao Paulo, Inst Ciencias Ambientais Quim & Farmaceut, Rua Prof Artur Riedel,275, BR-09972270 Diadema, SP, BrazilUniv Fed Sao Paulo, Inst Ciencias Ambientais Quim & Farmaceut, Rua Prof Artur Riedel,275, BR-09972270 Diadema, SP, BrazilWeb of Scienc

    PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines

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    PARP inhibitors (PARPi) are used in a wide range of human solid tumours but a limited evidence is reported in rhabdomyosarcoma (RMS), the most frequent childhood soft-tissue sarcoma. The cellular and molecular effects of Olaparib, a specific PARP1/2 inhibitor, and AZD2461, a newly synthesized PARP1/2/3 inhibitor, were assessed in alveolar and embryonal RMS cells both as single-agent and in combination with ionizing radiation (IR)
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