821 research outputs found
GENÓTIPOS de Hpv em Espécimes Cervicais e Anais De mulheres Sem Lesão Cervical e Soropositivas para Hiv
A infecção pelo papilomavirus humano (HPV) é o principal fator de risco para o desenvolvimento de cânceres anogenitais. Alguns genótipos, denominados de alto risco (HR-HPV), e suas variantes gênicas estão mais associados ao desenvolvimento de lesões malignas, sendo o HPV16 o mais frequente. Fatores de risco, como a infecção pelo HIV, aumenta a propensão à infecção persistente pelo HPV e câncer.
Metodologias moleculares para identificação e tipagem do HPV podem ser úteis para triagem de mulheres com citologia negativa, principalmente naquelas soropositivas para HIV. Este estudo teve como objetivo caracterizar os tipos de HPV e variantes de HPV16 em espécimes cervicais e anais de mulheres soropositivas para HIV, com
citologia cervical normal, atendidas no Centro de Referência em DST/AIDS, Vitória-ES. DNA viral foi pesquisado por PCR com conjuntos de iniciadores PGMY09/11 a partir de ácido nucleico extraído com kit QIAamp DNA Mini Kit (QIAGEN). O genótipo foi determinado por Reverse Line Blot (RLB), Restriction Fragment Length
Polymorphism (RFLP) ou sequenciamento gênico e as variantes de HPV16, por sequenciamento gênico. DNA de HPV foi detectado em um total de 71,4% (90/126) das mulheres, sendo 38,9% (49/126) presentes em amostras cervicais e 60,3% (76/126), em anais; 38,9% (35/90), em ambos os sítios concomitantemente. Foram detectados 34 tipos distintos de HPV, sendo os HR-HPVs encontrados em 83,7%
(41/49) e 77,6% (59/76) das amostras cervicais e anais, respectivamente. O HPV16 foi o tipo mais prevalente em ambos os sítios, seguido pelos tipos 45>31,35,44,69>18,52,66 na região cervical e pelos tipos 44>6>53 na região anal. Variante europeia de HPV16 esteve presente em 70,8% (17/24) dos casos e as não
europeias, em 29,2% (7/24). Mesmo genótipo de HPV em ambos os sítios anatômicos esteve presente em 48,6% das amostras e destes, 76,5% eram HR-HPV. Infecção com pelo menos três tipos de HPV foi uma ocorrência comum, sendo na maioria dos casos, na região anal (78,6%). Dentre as variáveis estudadas, idade entre 18-35 anos,
contagem de CD4 abaixo de 500 cél/mm3 e carga viral do HIV acima de 50 cópias/cél estiveram estatisticamente relacionadas à presença de HPV anal. A alta frequência de HR-HPV em mulheres de um grupo de risco e com citologia cervical normal contribui para que novas políticas de rastreio possam ser implementadas para o monitoramento dessa população. Palavras-chave: HPV. HIV. Genotipagem. Variantes
Estimation of genetic diversity in viral populations from next generation sequencing data with extremely deep coverage
In this paper we propose a method and discuss its computational
implementation as an integrated tool for the analysis of viral genetic
diversity on data generated by high-throughput sequencing. Most methods for
viral diversity estimation proposed so far are intended to take benefit of the
longer reads produced by some NGS platforms in order to estimate a population
of haplotypes. Our goal here is to take advantage of distinct virtues of a
certain kind of NGS platform - the platform SOLiD (Life Technologies) is an
example - that has not received much attention due to the short length of its
reads, which renders haplotype estimation very difficult. However, this kind of
platform has a very low error rate and extremely deep coverage per site and our
method is designed to take advantage of these characteristics. We propose to
measure the populational genetic diversity through a family of multinomial
probability distributions indexed by the sites of the virus genome, each one
representing the populational distribution of the diversity per site. The
implementation of the method focuses on two main optimization strategies: a
read mapping/alignment procedure that aims at the recovery of the maximum
possible number of short-reads; the estimation of the multinomial parameters
through a Bayesian approach, which, unlike simple frequency counting, allows
one to take into account the prior information of the control population within
the inference of a posterior experimental condition and provides a natural way
to separate signal from noise, since it automatically furnishes Bayesian
confidence intervals. The methods described in this paper have been implemented
as an integrated tool called Tanden (Tool for Analysis of Diversity in Viral
Populations).Comment: 30 pages, 5 figures, 2 tables, Tanden is written in C# (Microsoft),
runs on the Windows operating system, and can be downloaded from:
http://tanden.url.p
NbSn conductor development and characterization for NED
The main purpose of Next European Dipole (NED) project is to design and to build an NbSn ~ 15 T dipole magnet. Due to budget constraints, NED is mainly focused on superconducting cable development and production. In this work, an update is given on the NED conductor development by Alstom-MSA and SMI, which uses, respectively, Internal-Tin-Diffusion and Powder-In-Tube methods, with the aim of reaching a non-copper critical current density of ~ 3000 A/mm2 at 12 T and 4.2 K. Characterization results, including critical current and magnetization data, are presented and discussed, as well, for conductors already developed by both companies for this project. SMI succeeded to produce a strand with 50 µm diameter filaments and with a critical current of ~ 1400 A at 4.2 K and 12 T, corresponding to a non-copper critical current density of ~ 2500 A/mm2. Cabling trials with this strand were successfully carried out at LBNL
Insertion Magnets
Chapter 3 in High-Luminosity Large Hadron Collider (HL-LHC) : Preliminary
Design Report. The Large Hadron Collider (LHC) is one of the largest scientific
instruments ever built. Since opening up a new energy frontier for exploration
in 2010, it has gathered a global user community of about 7,000 scientists
working in fundamental particle physics and the physics of hadronic matter at
extreme temperature and density. To sustain and extend its discovery potential,
the LHC will need a major upgrade in the 2020s. This will increase its
luminosity (rate of collisions) by a factor of five beyond the original design
value and the integrated luminosity (total collisions created) by a factor ten.
The LHC is already a highly complex and exquisitely optimised machine so this
upgrade must be carefully conceived and will require about ten years to
implement. The new configuration, known as High Luminosity LHC (HL-LHC), will
rely on a number of key innovations that push accelerator technology beyond its
present limits. Among these are cutting-edge 11-12 tesla superconducting
magnets, compact superconducting cavities for beam rotation with ultra-precise
phase control, new technology and physical processes for beam collimation and
300 metre-long high-power superconducting links with negligible energy
dissipation. The present document describes the technologies and components
that will be used to realise the project and is intended to serve as the basis
for the detailed engineering design of HL-LHC.Comment: 19 pages, Chapter 3 in High-Luminosity Large Hadron Collider (HL-LHC)
: Preliminary Design Repor
Protection of the 6 T YBCO insert in the 13 T Nb3Sn Fresca II dipole
In the EuCARD project, we aim to construct a dipole magnet in YBCO producing
6 T in the background field of a 13 T Nb3Sn dipole FRESCA II. This paper
reviews the quench analysis and protection of the YBCO coil. In addition, a
recommendation for the protection system of the YBCO coil is presented.Comment: 6 pages, Contribution to WAMSDO 2013: Workshop on Accelerator Magnet,
Superconductor, Design and Optimization; 15 - 16 Jan 2013, CERN, Geneva,
Switzerlan
Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
Dear Sir,
In genetics, the term ‘mosaicism’ describes the situation in which groups of cells have a
different genetic composition to other cells in an organism. Somatic gene rearrangements
due to multiplication or deletion of genes (copy number variation) and/or sections of
chromosomes can lead to mosaicism.
The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be
associated with Parkinson’s disease (PD) and the severity of symptoms increases with the
number of copies of the gene [1]. While the features of PD associated with duplication of
SNCA are usually (but not always) typical of the condition [2–3], patients with triplicate
copies have atypical features, including rapidly evolving symptoms, severe cognitive
impairment, limited response to levodopa, more severe symptoms of dementia and more..
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