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

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

EXPERIMENTAL DETERMINATION OF LAMINAR BURNING VELOCITY OF BIOGAS AT PRESSURES UP TO 5 BAR

This paper presents a very detailed description of a new cylindrical constant volume combustion chamber designed for laminar burning velocity determination of gaseous mixtures at ambient temperature and initial pressure up to 6 bar. The experimental setup, the experimental procedure and the determination of the range of flame radius for laminar burning determination are all described in details. The laminar burning velocity of twelve synthetic biogas mixtures has been studied. Initial pressure varying between 1 and 5 bar, equivalence ratios, f, between 0.7 and 1.1 and percentage dilution, with a mixture of CO2 and N2, between 35 and 55% have been considered. Five experiments were run for each mixture providing a maximum percentage standard deviation of 8.11%. However, for two third of the mixtures this value is lower than 3.55%. A comparison with simulation using PREMIX for both GRI-Mech 3.0 and San Diego mechanisms has provided closer agreement for mixtures with equivalence ratio closer to stoichiometry whereas for f = 0.7 the deviation is larger than 15% for all pressures. Mixtures with lower equivalence ratio, higher dilution percentage and higher initial pressure presents the lower values of laminar burning velocity

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

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

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

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

We use high-precision kinematic and lensing measurements of the total mass profile of the dynamically relaxed galaxy cluster MACS J1206.2-0847 at $z=0.44$ to estimate the value of the ratio $\eta=\Psi/\Phi$ 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 $\Phi$), the lensing mass profile reflects the contribution of both time-time and space-space components (i.e. the sum $\Phi+\Psi$). We thus express $\eta$ as a function of the mass profiles and perform our analysis over the radial range $0.5\,Mpc\le r\le r_{200}=1.96\,Mpc$. 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 $f(R)$ modified gravity model, the constraint on $\eta$ translates into an upper bound to the interaction length (inverse of the scalaron mass) smaller than 2 Mpc. This tight constraint on the $f(R)$ 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

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

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

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)

Microfluidic tools for enhanced characterization of therapeutic stem cells and prediction of their potential antimicrobial secretome

Antibiotic resistance is creating enormous attention on the development of new antibiotic-free therapy strategies for bacterial diseases. Mesenchymal stromal stem cells (MSCs) are the most promising candidates in current clinical trials and included in several cell-therapy protocols. Together with the well-known immunomodulatory and regenerative potential of the MSC secretome, these cells have shown direct and indirect anti-bacterial effects. However, the low reproducibility and standardization of MSCs from different sources are the current limitations prior to the purification of cell-free secreted antimicrobial peptides and exosomes. In order to improve MSC characterization, novel label-free functional tests, evaluating the biophysical properties of the cells, will be advan-tageous for their cell profiling, population sorting, and quality control. We discuss the potential of emerging microfluidic technologies providing new insights into density, shape, and size of live cells, starting from heterogeneous or 3D cultured samples. The prospective application of these technologies to studying MSC populations may contribute to developing new biopharmaceutical strategies with a view to naturally overcoming bacterial defense mechanisms