1,189 research outputs found

    The superficial brachial artery : a case report

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    A superficial brachial artery is an anomalous branch of the brachial artery that runs superficial to the median nerve; it is usually associated with a deep brachial branch that runs deep to this nerve. A case is described of a superficial brachial artery. It is of the type where the artery terminates in the cubital fossa by division into radial and ulnar arteries. It is associated with a superficial ulnar artery, and a deep brachial artery that is continued into the forearm as the common interosseous artery, a rare occurrence. The clinical importance and the dangers of this vascular anomaly are discussed. In reparative surgery, an accurate knowledge of the relationship, course and particularly the possible variations of the brachial artery is of considerable importance.peer-reviewe

    Developmental hematology of SS and SC disease in association with α-thalassemia-2

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    The nuber and organization of the α, ζ and γ globin genes have been determined on the DNA of 400 patients attending the Pediatric Sickle Cell Clinics of our Center. The patients were participating in long-term prospective studies on possible effects of α-thal on the hecatological changes accompanying postnatal development. CBC and Hb composition were obtained in the steady state on patients of different ages and correlated with the number of α globin genes.peer-reviewe

    Energy communities in rural areas : The participatory case study of Vega de Valcarce, Spain

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    This study follows a multi-disciplinary approach to implementing an Energy Community (ECs) in Vega de Valcarce, a rural community in Spain. ECs are entities that encompass collective actions of citizens and other actors towards the open, democratic governance of renewable energy sources; ECs can take various technical and organisational forms. This study developed and evaluated socially accepted, technically optimal and feasible options for the implementation of the EC at Vega de Valcarce. We conducted a participatory multi-criteria analysis incorporating the results of mixed-integer linear programming for energy system optimisation and regulatory analysis of ECs under Spanish law. Our study showed that the main objectives of local stakeholders are the reduction of the energy bill and emissions. The limited liability company fulfilled legal and regulatory restrictions the best by implementing a bigger-sized EC. We summarise the key challenges of implementing an EC in a rural context, mainly legal and financial, and conclude with recommendations on how to overcome these. While contributing to understanding the roll-out of ECs in Spain and Europe, our research aims to provide a structured approach for the uptake of renewable energy in rural areas

    The horizon-entropy increase law for causal and quasi-local horizons and conformal field redefinitions

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    We explicitly prove the horizon-entropy increase law for both causal and quasi-locally defined horizons in scalar-tensor and f(R)f(R) gravity theories. Contrary to causal event horizons, future outer trapping horizons are not conformally invariant and we provide a modification of trapping horizons to complete the proof, using the idea of generalised entropy. This modification means they are no longer foliated by marginally outer trapped surfaces but fixes the location of the horizon under a conformal transformation. We also discuss the behaviour of horizons in "veiled" general relativity and show, using this new definition, how to locate cosmological horizons in flat Minkowski space with varying units, which is physically identified with a spatially flat FLRW spacetime.Comment: 23 page

    Hb synthesis of human leukemia derived cell lines

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    K562 is a pluripotent human leukemia cell line that spontaneously produces variable numbers of hemoglobinized progeny. The production of Hb by K562 cells is usually enhanced by Heroin and some other compounds. Hemin stimulates the production of the embryonic Hb Gower I (or ε2ζ2), Hb Gower II (or α2ε2), Hb Gower III (or ε2γ2) and Hb Portland I (or ζ2γ2) and the fetal Hb F (or α2γ2) and Hb Bart's (or γ4). They γ globins are a mixture of Gγ, AγI and AγT globins.peer-reviewe

    Variability in the interaction of β-thalassemia with the α-chain variants Hb G-Philadelphia and Hb Rampa

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    Two unrelated families are reported in which a β-thalassemia trait occurred with a heterozygosity for Hb G-Philadelphia (α2 68(E17)Asn → Lys β2) in one family and with Hb Rampa (α2 95(G2)Pro → Serβ2) in the other. The percentage of Hb G-Philadelphia was not influenced by the simultaneous presence of a β-thalassemia determinant, but that of Hb Rampa was decreased from 20% in the simple heterozygote to about 6% in persons with the Hb Rampa-β-thalassemia combination. Data from in vitro recombination experiments with isolated αX, αA, and βA chains, with heme attached, indicated a preferential formation of Hb A over Hb Rampa but not over Hb G-Philadelphia in conditions of relative β-chain deficiency. This suggests that the rate of assembly of monomers to form dimers or tetramers can be an important mechanism of controlling the quantity of certain hemoglobin variants with critical substitutions in heterozygotes.peer-reviewe

    Transcriptional regulation of the human muscarinic M2 receptor gene

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    Muscarinic M2 receptors are important regulators of airway smooth muscle tone and alteration in M2 receptor function has been described in asthmatic patients. Information regarding transcriptional regulatory control of muscarinic M2 receptor expression in human airway smooth muscle cells is not available in the scientific literature. This project aimed to study the transcriptional regulation of human muscarinic M2 receptors and identify potential polymorphic variation, which may contribute to alteration in receptor expression. Total mRNA was extracted from a human airway smooth muscle (HASM) primary cell culture and used as a template for analysis. A 5’ RACE (Rapid Amplification of cDNA Ends) approach was used to identify and characterize the promoter region of the M2 receptor. The promoter activity of pGL3E deletion constructs was subsequently investigated using a luciferase-based reporter gene assay approach in transiently transfected HASM and BEAS-2B cells. Three different regions of transcriptional initiation were identified, with multiple transcription start sites (TSSs) clustered within each region. The distance separating the most 5’ TSS from the coding region exceeds 146kb, and includes multiple exons, some of which are alternatively spliced. Sequencing of genomic DNA revealed the presence of a novel 0.5kb hypervariable region located 648bp upstream of the most 5’ TSS, a CÆA SNP located 136bp upstream of the most 5’ TSS and a multiallelic CA tandem repeat 96bp downstream of the most 5’ TSS. The CA repeat has been shown to influence reporter gene transcriptional activity in transient cell transfectants. This study has elucidated the arrangement of the muscarinic M2 5’ untranslated region, and has defined the key regions likely to be important in transcriptional regulation of the gene in HASM cells. Studies to define potential linkage between the functional tandem CA repeat and asthma are currently underway. This work was funded by the University of Malta and the National Asthma Campaign (UK).peer-reviewe

    Hb P-Nilotic in association with βo-thalassemia : cis-mutation of a hemoglobin βa chain regulatory determinant?

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    Hb P-Nilotic which is produced by a hybrid of β and δ genes was found in several members of a Sudanese family, three of whom had an associated β-thalassemia. Chemical analyses confirmed the crossover between positions 22 and 50 of the βδP chain. The Hb P-Nilotic heterozygote had completely normal hematology, but the patients with the Hb P-Nilotic-β-thalassemia condition had moderately severe clinical and hematological abnormalities which were considerably more pronounced than those in the father who had a β-thalassemia heterozygosity. The absolute cellular contents of normal and abnormal non-α chains in these subjects and the results of in vitro chain synthesis analyses suggested that the thalassemia gene in this family is of the βo type and that the βA gene which is present in cis to the βδP gene is incapable of being stimulated when the βo-thalassemia determinant is present in trans. It is proposed that a number of recombination events produced a βδP hybrid gene with duplication of the βA gene in cis as well as a change in an untranscribed strand of DNA which controls the expression of the βA gene.peer-reviewe

    Hb G-Philadelphia in asociation with Hb S and α-Thalassemia-2

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    The proportion of some a chain variants in the peripheral blood of heterozygotes has been a most useful marker for the number and activity of the a chain genes of human hemoglobin. Among these, Hb G-Philadelphia(or α2 68Lys β2) has been found in association with a heterozygous or a homozygous α-thal-2, a β-thal trait (AGAβTH) or a Hb S heterozygosity (ASAG) and a Hb S homozygosity (SSG). Hb G-Philadelphia heterozygotes differ in the proporticn of Hb G, MCV and MCH values and Σα/non-α biosynthetic ratios. Two categories have been noted in our laboratories among adult heterozygotes.peer-reviewe

    Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas

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    Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified. In contrast, the MYCantagonists MGA and MNT were the most frequentlymutated or deleted members, proposing a roleas tumor suppressors.MYCalterations were mutu-ally exclusive withPIK3CA,PTEN,APC,orBRAFalterations, suggesting that MYC is a distinct onco-genic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such asimmune response and growth factor signaling; chro-matin, translation, and DNA replication/repair wereconserved pan-cancer. This analysis reveals insightsinto MYC biology and is a reference for biomarkersand therapeutics for cancers with alterations ofMYC or the PMN
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