Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

A quantitative TaqMan PCR assay for the detection of Mycoplasma suis

Aim: To develop a TaqMan probe-based, highly sensitive and specific quantitative PCR (qPCR) assay for the detection and quantification of Mycoplasma suis in the blood of pigs. Methods and Results: Primers and probes specific to Myc. suis 16S rRNA gene were designed. The qPCR assay`s specificity, detection limit, intra- and inter-assay variability were evaluated and its performance was compared with a Myc. suis conventional PCR assay (cPCR). Blood of two experimentally infected pigs, 40 Indiana pigs, 40 Brazilian sows and 28 peccaries were tested. The assay detected as few as ten copies of Myc. suis plasmids and was 100-fold more sensitive than the cPCR. No cross-reactivity with nontarget pig mycoplasmas was observed. An average of 1.62 x 10(11) and 2.75 x 10(8) target copies ml(-1) of blood were detected in the acutely and chronically infected pigs, respectively. Three (7.5%) pigs and 32 (80.0%) sows were positive while all peccaries were negative for Myc. suis. Conclusion: The developed qPCR assay is highly sensitive and specific for Myc. suis detection and quantification. Significance and Impact of the Study: TaqMan qPCR is an accurate and quick test for detection of Myc. suis infected pigs, which can be used on varied instrumentation platforms.

Sudden stratospheric warmings seen in MINOS deep underground muon data

The rate of high energy cosmic ray muons as measured underground is shown to be strongly correlated with upper-air temperatures during short-term atmospheric (10-day) events. The effects are seen by correlating data from the MINOS underground detector and temperatures from the European Centre for Medium Range Weather Forecasts during the winter periods from 2003-2007. This effect provides an independent technique for the measurement of meteorological conditions and presents a unique opportunity to measure both short and long-term changes in this important part of the atmosphere. Citation: Osprey, S., et al. (2009), Sudden stratospheric warmings seen in MINOS deep underground muon data, Geophys. Res. Lett., 36, L05809, doi: 10.1029/2008GL036359.

Observation of the antimatter helium-4 nucleus

High-energy nuclear collisions create an energy density similar to that of the Universe microseconds after the Big Bang(1); in both cases, matter and antimatter are formed with comparable abundance. However, the relatively short-lived expansion in nuclear collisions allows antimatter to decouple quickly from matter, and avoid annihilation. Thus, a high-energy accelerator of heavy nuclei provides an efficient means of producing and studying antimatter. The antimatter helium-4 nucleus ((4)(He) over bar), also known as the anti-alpha ((alpha) over bar), consists of two antiprotons and two antineutrons (baryon number B = -4). It has not been observed previously, although the alpha-particle was identified a century ago by Rutherford and is present in cosmic radiation at the ten per cent level(2). Antimatter nuclei with B -1 have been observed only as rare products of interactions at particle accelerators, where the rate of antinucleus production in high-energy collisions decreases by a factor of about 1,000 with each additional antinucleon(3-5). Here we report the observation of (4)<(He) over bar, the heaviest observed antinucleus to date. In total, 18 (4)(He) over bar counts were detected at the STAR experiment at the Relativistic Heavy Ion Collider (RHIC; ref. 6) in 10(9) recorded gold-on-gold (Au+Au) collisions at centre-of-mass energies of 200 GeV and 62 GeV per nucleon-nucleon pair. The yield is consistent with expectations from thermodynamic(7) and coalescent nucleosynthesis(8) models, providing an indication of the production rate of even heavier antimatter nuclei and a benchmark for possible future observations of (4)(He) over bar in cosmic radiation.

Molecular characterization of Arabidopsis thaliana PUF proteins - binding specificity and target candidates

PUF proteins regulate both stability and translation through sequence-specific binding to the 3` UTR of target mRNA transcripts. Binding is mediated by a conserved PUF domain, which contains eight repeats of approximately 36 amino acids each. Found in all eukaryotes, they have been related to several developmental processes. Analysis of the 25 Arabidopsis Pumilio (APUM) proteins presenting PUF repeats reveals that 12 (APUM-1 to APUM-12) have a PUF domain with 50-75% similarity to the Drosophila PUF domain. Through three-hybrid assays, we show that APUM-1 to APUM-6 can bind specifically to the Nanos response element sequence recognized by Drosophila Pumilio. Using an Arabidopsis RNA library in a three-hybrid screening, we were able to identify an APUM-binding consensus sequence. Computational analysis allowed us to identify the APUM-binding element within the 3` UTR in many Arabidopsis transcripts, even in important mRNAs related to shoot stem cell maintenance. We demonstrate that APUM-1 to APUM-6 are able to bind specifically to APUM-binding elements in the 3` UTR of WUSCHEL, CLAVATA-1, PINHEAD/ZWILLE and FASCIATA-2 transcripts. The results obtained in the present study indicate that the APUM proteins may act as regulators in Arabidopsis through an evolutionarily conserved mechanism, which may open up a new approach for investigating mRNA regulation in plants.

Interferência de caruru-de-mancha sobre características de crescimento e produção da beterraba

A beterraba (Beta vulgaris), importante hortaliça cultivada no Brasil, é muito suscetível à interferência de plantas daninhas, sendo Amaranthus viridis uma das principais espécies encontradas em áreas de horticultura. O objetivo deste trabalho foi estudar a resposta da beterraba à competição com diferentes densidades de A. viridis, por meio da avaliação de características de crescimento e produção da cultura. Um experimento em caixas, com área útil de 0,25 m², foi conduzido em Jaboticabal-SP, Brasil, mantendo-se constante oito plantas por caixa de beterraba em convivência com 0, 1, 2, 3, 4 e 6 plantas por caixa de A. viridis. A cultura da beterraba foi muito suscetível à interferência imposta por plantas de A. viridis, tendo sua área foliar, número de folhas, massa seca de folhas, diâmetro médio da raiz e massa fresca de raízes significativamente reduzidos mesmo em baixas densidades populacionais da planta daninha; a massa fresca de raízes foi a mais sensível à interferência.

Biópsia hepática com agulha tru-cut guiada por videolaparoscopia em caprinos

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Análise espacial do risco de leptospirose canina na Vila Pantanal, Curitiba, Paraná

A leptospirose é uma grave zoonose associada às áreas de baixa renda dos centros urbanos. Embora roedores urbanos sejam considerados como principal reservatório para a leptospirose, o cão também pode desenvolver a doença e se tornar carreador assintomático. O objetivo do presente trabalho foi utilizar a metodologia estatística baseada na teoria de processos pontuais espaciais, buscando identificar a forma como se distribuem os cães sororreagentes para a leptospirose e seus determinantes de risco em uma vila na cidade de Curitiba. A análise do modelo possibilitou identificar as regiões de sobre-risco, onde o risco de soropositividade canina à leptospirose é significativamente maior. A relação significativa do efeito espacial no desenvolvimento da doença, além das variáveis estudadas, revela que não apenas um, mas a ação conjunta dos fatores relacionados ao animal, ao proprietário e ao ambiente influencia o risco maior da doença nos locais de maior efeito espacial. O resultado da análise indica claramente os territórios em maior risco na região da Vila Pantanal, possibilitando o planejamento de ações mais específicas e dirigidas a essas áreas em um contexto de vigilância da saúde.

Commissioning and performance of the CMS silicon strip tracker with cosmic ray muons

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for Dark Photons from Supersymmetric Hidden Valleys

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Transverse-Momentum and Pseudorapidity Distributions of Charged Hadrons in pp Collisions at root s=7 TeV

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Measurement of the WW Production Cross Section with Dilepton Final States in pp Collisions at s=1.96 TeV and Limits on Anomalous Trilinear Gauge Couplings

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Measurement of the t(t)over-bar cross section using high-multiplicity jet events

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for excited electrons in p(p)over-bar collisions at root s=1.96 TeV

We present the results of a search for the production of an excited state of the electron, e(*), in proton-antiproton collisions at root s = 1.96 TeV. The data were collected with the D0 experiment at the Fermilab Tevatron Collider and correspond to an integrated luminosity of approximately 1 fb(-1). We search for e(*) in the process p (p) over bar -> e(*)e, with the e(*) subsequently decaying to an electron plus photon. No excess above the standard model background is observed. Interpreting our data in the context of a model that describes e(*) production by four-fermion contact interactions and e(*) decay via electroweak processes, we set 95% C.L. upper limits on the production cross section ranging from 8.9 to 27 fb, depending on the mass of the excited electron. Choosing the scale for contact interactions to be Lambda = 1 TeV, excited electron masses below 756 GeV are excluded at the 95% C.L.