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.

Review of the effectiveness of vehicle activated signs

This paper reviews the effectiveness of vehicle activated signs. Vehicle activated signs are being reportedly used in recent years to display dynamic information to road users on an individual basis in order to give a warning or inform about a specific event. Vehicle activated signs are triggered individually by vehicles when a certain criteria is met. An example of such criteria is to trigger a speed limit sign when the driver exceeds a pre-set threshold speed. The preset threshold is usually set to a constant value which is often equal, or relative, to the speed limit on a particular road segment. This review examines in detail the basis for the configuration of the existing sign types in previous studies and explores the relation between the configuration of the sign and their impact on driver behavior and sign efficiency. Most of previous studies showed that these signs have significant impact on driver behavior, traffic safety and traffic efficiency. In most cases the signs deployed have yielded reductions in mean speeds, in speed variation and in longer headways. However most experiments reported within the area were performed with the signs set to a certain static configuration within applicable conditions. Since some of the aforementioned factors are dynamic in nature, it is felt that the configurations of these signs were thus not carefully considered by previous researchers and there is no clear statement in the previous studies describing the relationship between the trigger value and its consequences under different conditions. Bearing in mind that different designs of vehicle activated signs can give a different impact under certain conditions of road, traffic and weather conditions the current work suggests that variable speed thresholds should be considered instead.

Development Of Water Pollution Early Warning System For Oyster Harvesting Areas

The objective of this study is to develop a Pollution Early Warning System (PEWS) for efficient management of water quality in oyster harvesting areas. To that end, this paper presents a web-enabled, user-friendly PEWS for managing water quality in oyster harvesting areas along Louisiana Gulf Coast, USA. The PEWS consists of (1) an Integrated Space-Ground Sensing System (ISGSS) gathering data for environmental factors influencing water quality, (2) an Artificial Neural Network (ANN) model for predicting the level of fecal coliform bacteria, and (3) a web-enabled, user-friendly Geographic Information System (GIS) platform for issuing water pollution advisories and managing oyster harvesting waters. The ISGSS (data acquisition system) collects near real-time environmental data from various sources, including NASA MODIS Terra and Aqua satellites and in-situ sensing stations managed by the USGS and the NOAA. The ANN model is developed using the ANN program in MATLAB Toolbox. The ANN model involves a total of 6 independent environmental variables, including rainfall, tide, wind, salinity, temperature, and weather type along with 8 different combinations of the independent variables. The ANN model is constructed and tested using environmental and bacteriological data collected monthly from 2001 – 2011 by Louisiana Molluscan Shellfish Program at seven oyster harvesting areas in Louisiana Coast, USA. The ANN model is capable of explaining about 76% of variation in fecal coliform levels for model training data and 44% for independent data. The web-based GIS platform is developed using ArcView GIS and ArcIMS. The web-based GIS system can be employed for mapping fecal coliform levels, predicted by the ANN model, and potential risks of norovirus outbreaks in oyster harvesting waters. The PEWS is able to inform decision-makers of potential risks of fecal pollution and virus outbreak on a daily basis, greatly reducing the risk of contaminated oysters to human health.

Dysglycemias in pregnancy: from diagnosis to treatment. Brazilian consensus statement

There is an urgent need to find consensus on screening, diagnosing and treating all degrees of DYSGLYCEMIA that may occur during pregnancies in Brazil, considering that many cases of DYSGLYCEMIA in pregnant women are currently not diagnosed, leading to maternal and fetal complications. For this reason the Brazilian Diabetes Society (SBD) and the Brazilian Federation of Gynecology and Obstetrics Societies (FEBRASGO), got together to introduce this proposal. We present here a joint consensus regarding the standardization of clinical management for pregnant women with any degree of Dysglycemia, on the basis of current information, to improve medical assistance and to avoid related complications of Dysglycemia in pregnancy to the mother and the fetus. This consensus aims to standardize the diagnosis among general practitioners, endocrinologists and obstetricians allowing the dissemination of information in basic health units, public and private services, that are responsible for screening, diagnosing and treating disglycemic pregnant patients.

Chemical transfer of warning information in non-injured fish

In this study we describe pacus, Piaractus mesopotamicus, detecting the presence of a predator by conspecific alerting pheromone. Moreover, we investigate whether this chemical information indicates the presence of a specific predator, or whether it indicates general disturbance. We exposed groups of pacus to the view of a predator fish (trahira, Hoplias malabaricus), a non-predator fish (piracanjuba, Brycon orbignyanus) or an aquarium without any fish (control), and then we transferred their water to isolated conspecifics. We set up six trials of each condition in which we analysed the dispersion and the distance from the visual stimulus in water-donor fish and the distance from the chemical stimulus in water-receiver pacus. This study showed that pacus visually identified the presence of another fish and recognised it as predator or non-predator. This is interpreted as an innate response. Such heterospecific detection affects the behaviour of pacus, which release chemicals that induce conspecifics to adopt a similar behavioural response. At least two chemicals might be involved, one of them possibly an alerting pheromone.

A radar reflectivity-runoff model for use in flood warning

This model connects directly the radar reflectivity data and hydrological variable runoff. The catchment is discretized in pixels (4 Km × 4 Km) with the same resolution of the CAPPI. Careful discretization is made so that every grid catchment pixel corresponds precisely to CAPPI grid cell. The basin is assumed a linear system and also time invariant. The forecast technique takes advantage of spatial and temporal resolutions obtained by the radar. The method uses only the measurements of the factor reflectivity distribution observed over the catchment area without using the reflectivity - rainfall rate transformation by the conventional Z-R relationships. The reflectivity values in each catchment pixel are translated to a gauging station by using a transfer function. This transfer function represents the travel time of the superficial water flowing through pixels in the drainage direction ending at the gauging station. The parameters used to compute the transfer function are concentration time and the physiographic catchment characteristics. -from Authors

Statement delivered at the Expert Meeting on Crisis and Development in Latin America and the Caribbean

Se refiere a las características de la crisis en America Latina y el Caribe, deuda externa, relacionamiento externo, inflación, y a la tarea de modernización económica, social y política a que deberá abocarse la América Latina para salir de ella.

Statement by Mr. Vildósola of the Chilean Delegation at the Plenary Session on 1 September 1955

Also includes: Information Document No.31 - Address delivered by Mr. Teófilo de Andrade-Lira, Chief of the Brazilian Delegation, at the Plenary Session on 1 September 1955