A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

<p>Abstract</p> <p>Background</p> <p>Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date.</p> <p>Methods</p> <p>We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents.</p> <p>Results</p> <p>Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial <it>de novo </it>1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping.</p> <p>Conclusion</p> <p>The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</p

The STRong lensing Insights into the Dark Energy Survey (STRIDES) 2016 follow-up campaign - I. Overview and classification of candidates selected by two techniques

The primary goals of the STRong lensing Insights into the Dark Energy Survey (STRIDES) collaboration are to measure the dark energy equation of state parameter and the free streaming length of dark matter. To this aim, STRIDES is discovering strongly lensed quasars in the imaging data of the Dark Energy Survey and following them up to measure time delays, high resolution imaging, and spectroscopy sufficient to construct accurate lens models. In this paper, we first present forecasts for STRIDES. Then, we describe the STRIDES classification scheme, and give an overview of the Fall 2016 follow-up campaign. We continue by detailing the results of two selection methods, the Outlier Selection Technique and a morphological algorithm, and presenting lens models of a system, which could possibly be a lensed quasar in an unusual configuration. We conclude with the summary statistics of the Fall 2016 campaign. Including searches presented in companion papers (Anguita et al.; Ostrovski et al.), STRIDES followed up 117 targets identifying 7 new strongly lensed systems, and 7 nearly identical quasars (NIQs), which could be confirmed as lenses by the detection of the lens galaxy. 76 candidates were rejected and 27 remain otherwise inconclusive, for a success rate in the range 6-35\%. This rate is comparable to that of previous searches like SQLS even though the parent dataset of STRIDES is purely photometric and our selection of candidates cannot rely on spectroscopic information

A comparison of methods for temporal analysis of aoristic crime

Objectives: To test the accuracy of various methods previously proposed (and one new method) to estimate offence times where the actual time of the event is not known. Methods: For 303 thefts of pedal cycles from railway stations, the actual offence time was determined from closed-circuit television and the resulting temporal distribution compared against commonly-used estimated distributions using circular statistics and analysis of residuals. Results: Aoristic analysis and allocation of a random time to each offence allow accurate estimation of peak offence times. Commonly-used deterministic methods were found to be inaccurate and to produce misleading results. Conclusions: It is important that analysts use the most accurate methods for temporal distribution approximation to ensure any resource decisions made on the basis of peak times are reliable

The British constitution resettled? Parliamentary sovereignty after the EU Referendum

The evidence from parliamentary and legal processes flowing from the European Union referendum in June 2016 and the vote to leave - including invoking Article 50 and subsequent Withdrawal Bill votes, nuancing of party positions in Parliament, adopting parliamentary scrutiny through ongoing party competition and subsequent legislation - suggests a strong resettling of Parliament’s sovereignty based on a potentially new, enhanced constitutional settlement. Two significant precedented, historical constitutional forms, strongly dependent upon Burke’s and Dicey’s view of government by consent, prove central to the further resettling of parliamentary sovereignty following the European Union referendum. This approach contrasts with theories asserting that sovereignty is being challenged by unwieldy executive authority, popular sovereignty, or democratic nostalgia. When the United Kingdom’s present day, post-1973 constitutional form is in conflict with a new feature, as in the case of the European Union referendum, a contemporary resettling of parliamentary sovereignty occurs

Aplicação do escore CRIB como preditor de óbito em unidade de terapia intensiva neonatal: uma abordagem ampliada The use of CRIB score as mortality predictor at neonatal intensive care unit: an extended approach

OBJETIVOS: avaliar o uso do escore CRIB (Clinical Risk Index for Babies) em todos os recém-nascidos internados em Unidade de Terapia Intensiva Neonatal (UTIN) e comparar seus resultados com peso ao nascer e idade gestacional. MÉTODOS: estudo observacional, envolvendo todos os recém-nascidos internados na UTIN do Hospital Universitário de Taubaté. As variáveis foram escore CRIB, peso ao nascer, idade gestacional, uso de surfactante, cateterização umbilical, asfixia neonatal e óbito. Foram comparadas as médias do escore CRIB, peso ao nascer e idade gestacional segundo óbito. Foram estimados os valores da sensibilidade, especificidade, valores preditivos positivo e negativo e risco relativo e criadas curvas Receiver Operating Characteristic (ROC) para CRIB, peso ao nascer e idade gestacional. Utilizou-se da técnica t de Student e qui-quadrado de tendência linear. A significância estatística foi alfa = 5%. RESULTADOS: óbito esteve associado a maiores valores do CRIB; houve tendência de mais casos com asfixia, uso de surfactante, cateterização umbilical e óbitos com as classes maiores do CRIB. A curva ROC relativa ao CRIB foi maior que as relativas ao peso ao nascer e idade gestacional. CONCLUSÕES: o escore CRIB foi bom preditor do óbito quando aplicado em todos os RN.<br>OBJECTIVES: to evaluate the CRIB (Clinical Risk Index for Babies) score as mortality predictor in all newborn at Neonatal Intensive Care Unit (NICU) and to compare with birthweight and gestational age. METHODS: observational study with newborn admitted at NICU of University Hospital of Taubaté. The variables were CRIB score, birth weight, gestational age, use of surfactant, umbilical catheter, neonatal asphyxia and death. The association between CRIB score and other variables was estimated. The values of sensitivity, specificity, predictive and negative values and relative risk and 95% confidence interval of were estimated and created ROC (Receiver Operating Characteristic) curves to CRIB, birth weight and gestational age. Student t test and linear trend chi2 were applied to statistical analysis. The significance level was alfa = 5%. RESULTS: the death was associated with elevated values of CRIB and there was trend of more cases with use of surfactant, umbilical catheter, neonatal asphyxia and deaths with upper class of CRIB. The ROC curve of CRIB had a larger area under the curve than ROC curve for birth weight and gestational age. CONCLUSIONS: the CRIB score was as good predictor to death when applied to all newborn