Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

OBJECTIVE: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (WBS). METHODS: The first proposed method, named paralogous sequence quantification (PSQ), is based on the use of paralogous sequences located on different chromosomes and quantification of specific mismatches present at these loci using pyrosequencing technology. The second exploits quantitative real time polymerase chain reaction (QPCR) to assess the relative quantity of an analysed locus. RESULTS: A correct and unambiguous diagnosis was obtained for 100% of the analysed samples with either technique (n = 165 and n = 155, respectively). These methods allowed the identification of two patients with atypical deletions in a cohort of 182 WBS patients. Both patients presented with mild facial anomalies, mild mental retardation with impaired visuospatial cognition, supravalvar aortic stenosis, and normal growth indices. These observations are consistent with the involvement of GTF2IRD1 or GTF2I in some of the WBS facial features. CONCLUSIONS: Both PSQ and QPCR are robust, easy to interpret, and simple to set up. They represent a competitive alternative for the diagnosis of segmental aneuploidies in clinical laboratories. They have advantages over fluorescence in situ hybridisation or microsatellites/SNP genotyping for detecting short segmental aneuploidies as the former is costly and labour intensive while the latter depends on the informativeness of the polymorphisms.

Evaluation of reclamation technologies for wastewater reuse

Reclamation and reuse of wastewater require the use of tools that minimize risks to health and natural ecosystems. There are various types of such tools, among which HACCP (hazardanalysis and critical control points) and barrier systems are gainingimportance. The research reported here aims to determine andevaluate the most efficient combinations of different treatmentsystems—barriers—for the reclamation of secondary effluentsfrom urban sewage treatment plants, and for obtaining water ofsufficient quality for reuse in accordance with existing legislation,in which water disinfection has become one of the keys tocompliance. Several conventional and non-conventional reclamationtechnologies are evaluated. The results lead us to recommendtreatment lines for the different reclaimed water uses established inthe Spanish legislation.

Unnatural Mothers, Mothering Unnaturally: Technologies of Reproduction and the Politics of Maternity in Hiromi Goto's "Hopeful Monsters"

Through scientific discourse and reproductive technologies, the reproductive body and the maternal body continue to be constructed as ‘natural’. At the same time,these technologies have begun to blur the boundaries between what is consideredan acceptable reproductive body, and consequently an acceptable maternal body,and an unnatural or a socially undesireable one. As science purports to offerwomen greater control over how and when they choose to procreate, through methods which range between delaying or eliminating the possibility of contraception to those which extend the possibility of conception to postmenopausal or infertile women, these same procedures raise questions about thenature and ‘naturalness’ of reproduction. Added to these concerns are thesuitablility of the reproductive body as a maternal body. Consequently, and moreand more frequently, bodies which defy ideals about maternity and motherhoodemerge, and questions about what it means to mother are raised. Bodies whichcontest the construction of motherhood as natural are frequently represented asmonstrous or freakish, and the debate between science and nature is heightened.Hiromi Goto’s short story ‘Hopeful Monsters’ resists the construction of the‘natural’ maternal body by highlighting the way in which women’s bodies areshaped by scientific discourse. In turn, images of ‘monstrous’ mothers emerge andare challenged, suggesting the need to reimagine what it means to mother and whatit means to be a mother. Through reading a selection of the stories this paper willinterrogate possible alternatives to constructions of the ‘natural’ maternal body and motherhood, suggesting that the Goto’s ‘monsters’ are perhaps only monstrous as a result of scientific discourse which constructs them as such.

New reference tables and user-friendly Internet application for predicted heart weights.

BACKGROUND: Knowledge of normal heart weight ranges is important information for pathologists. Comparing the measured heart weight to reference values is one of the key elements used to determine if the heart is pathological, as heart weight increases in many cardiac pathologies. The current reference tables are old and in need of an update. AIMS: The purposes of this study are to establish new reference tables for normal heart weights in the local population and to determine the best predictive factor for normal heart weight. We also aim to provide technical support to calculate the predictive normal heart weight. METHODS: The reference values are based on retrospective analysis of adult Caucasian autopsy cases without any obvious pathology that were collected at the University Centre of Legal Medicine in Lausanne from 2007 to 2011. We selected 288 cases. The mean age was 39.2 years. There were 118 men and 170 women. Regression analyses were performed to assess the relationship of heart weight to body weight, body height, body mass index (BMI) and body surface area (BSA). RESULTS: The heart weight increased along with an increase in all the parameters studied. The mean heart weight was greater in men than in women at a similar body weight. BSA was determined to be the best predictor for normal heart weight. New reference tables for predicted heart weights are presented as a web application that enable the comparison of heart weights observed at autopsy with the reference values. CONCLUSIONS: The reference tables for heart weight and other organs should be systematically updated and adapted for the local population. Web access and smartphone applications for the predicted heart weight represent important investigational tools.

Assessment of Nondestructive Testing Technologies for Quality Control/Quality Assurance of Asphalt Mixtures, TR-653, 2015

Asphalt pavements suffer various failures due to insufficient quality within their design lives. The American Association of State Highway and Transportation Officials (AASHTO) Mechanistic-Empirical Pavement Design Guide (MEPDG) has been proposed to improve pavement quality through quantitative performance prediction. Evaluation of the actual performance (quality) of pavements requires in situ nondestructive testing (NDT) techniques that can accurately measure the most critical, objective, and sensitive properties of pavement systems. The purpose of this study is to assess existing as well as promising new NDT technologies for quality control/quality assurance (QC/QA) of asphalt mixtures. Specifically, this study examined field measurements of density via the PaveTracker electromagnetic gage, shear-wave velocity via surface-wave testing methods, and dynamic stiffness via the Humboldt GeoGauge for five representative paving projects covering a range of mixes and traffic loads. The in situ tests were compared against laboratory measurements of core density and dynamic modulus. The in situ PaveTracker density had a low correlation with laboratory density and was not sensitive to variations in temperature or asphalt mix type. The in situ shear-wave velocity measured by surface-wave methods was most sensitive to variations in temperature and asphalt mix type. The in situ density and in situ shear-wave velocity were combined to calculate an in situ dynamic modulus, which is a performance-based quality measurement. The in situ GeoGauge stiffness measured on hot asphalt mixtures several hours after paving had a high correlation with the in situ dynamic modulus and the laboratory density, whereas the stiffness measurement of asphalt mixtures cooled with dry ice or at ambient temperature one or more days after paving had a very low correlation with the other measurements. To transform the in situ moduli from surface-wave testing into quantitative quality measurements, a QC/QA procedure was developed to first correct the in situ moduli measured at different field temperatures to the moduli at a common reference temperature based on master curves from laboratory dynamic modulus tests. The corrected in situ moduli can then be compared against the design moduli for an assessment of the actual pavement performance. A preliminary study of microelectromechanical systems- (MEMS)-based sensors for QC/QA and health monitoring of asphalt pavements was also performed.

Challenges and opportunities for science journalists in adopting new technologies: the case of Spain = Retos y oportunidades para los periodistas científicos en la adopción de las nuevas tecnologías: el caso de España

This paper analyses the adoption of new information and communication technologies (ICTs) by Spanish journalists specialising in science. Applying an ethnographic research model, this study was based on a wide sample of professionals, aiming to evaluate the extent by which science journalists have adopted the new media and changed the way they use information sources. In addition, interviewees were asked whether in their opinion the Web 2.0 has had an impact on the quality of the news. The integration of formats certainly implies a few issues for today’s newsrooms. Finally, with the purpose of improving the practice of science information dissemination, the authors put forward a few proposals, namely: Increasing the training of Spanish science journalists in the field of new technologies; Emphasising the accuracy of the information and the validation of sources; Rethinking the mandates and the tasks of information professionals.

Evaluation des technologies médicales : travaux présentés pendant le Congrès TEKMED 87 = Assessment of medical technologies : the papers presented during the TEKMED 87 Congress

[Table des matières] Technology assessment in health care in the United States: an historical review / S. Perry. - The aims and methods of technology assessment / JH Glasser. - Evaluation des technologies de la santé / A. Griffiths. - Les données nécessaires pour l'évaluation des technologies médicales / R. Chrzanowski, F. Gutzwiller, F. Paccaud. - Economic issues in technology assessment/DR Lairson, JM Swint. - Two decades of experience in technology assessment: evaluating the safety, performance, and cost effectiveness of medical equipment / JJ Nobel. - Demography and technology assessment / H. Hansluwka. - Méthodes expérimentale et non expérimentale pour l'évaluation des innovations technologiques / R. Chrzanowski, F. Paccaud. - Skull radiography in head trauma: a successful case of technology assessment / NT Racoveanu. - Complications associées à l'anesthésie: une étude prospective en France / L. Tiret et al. - Impact de l'information publique sur les taux opératoires: le cas de l'hystérectomie / G. Domenighetti, P. Luraschi, A. Casabianca. - The clinical effectiveness of acupuncture for the relief of chronic pain / MS Patel, F. Gutzwiller, F. Paccaud, A. Marazzi. - Soins à domicile et hébergement à long terme: à la recherche d'un développement optimum / G. Tinturier. - Economic evaluation of six scenarios for the treatment of stones in the kidney and ureter by surgery or ESWL / MS Patel et al. - Technology assessment and medical practice / F. Gutzwiller. - Technology assessment and health policy / SJ Reiser. - Global programme on appropriate technology for health, its role and place within WHO / K. Staehr Johansen.

The Adoption of Technologies, Policies, and Systems for Improving Fleet Fuel Performance, 2007

The dramatic rise in fuel prices and growing environmental concerns are pressing freight transportation companies to pursue new systems and methods to improve fuel efficiency and reduce their environmental impact. While select major carriers appear to be leading efforts to adopt technologies that support a dramatic improvement in fuel performance, there appears to be little understanding as to the breadth and depth of efforts being taken by the broader motor carrier community, consisting of over 20,000 companies of all sizes. The purpose of this study was to investigate the level of adoption of technologies and policies to support improved fuel efficiency among motor carrier fleets.