Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group of patients, but it is very costly for large-scale use in developing countries. We evaluated the use of a combination of Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase the detection rate of chromosomal abnormalities in MCA/MR patients. We screened 261 MCA/MR patients with two subtelomeric and one microdeletion kits. This would theoretically detect up to 70% of all submicroscopic abnormalities. Additionally we scored the de Vries score for 209 patients in an effort to find a suitable cut-off for MLPA screening. Our results reveal that chromosomal abnormalities were present in 87 (33.3%) patients, but only 57 (21.8%) were considered causative. Karyotyping detected 15 abnormalities (6.9%), while MLPA identified 54 (20.7%). Our combined MLPA screening raised the total detection number of pathogenic imbalances more than three times when compared to conventional karyotyping. We also show that using the de Vries score as a cutoff for this screening would only be suitable under financial restrictions. A decision analytic model was constructed with three possible strategies: karyotype, karyotype + MLPA and karyotype + WGAS. Karyotype + MLPA strategy detected anomalies in 19.8% of cases which account for 76.45% of the expected yield for karyotype + WGAS. Incremental Cost Effectiveness Ratio (ICER) of MLPA is three times lower than that of WGAS, which means that, for the same costs, we have three additional diagnoses with MLPA but only one with WGAS. We list all causative alterations found, including rare findings, such as reciprocal duplications of regions deleted in Sotos and Williams-Beuren syndromes. We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP that confounded the analysis of the 22q13.3 deletion syndrome. (C) 2011 Elsevier Masson SAS. All rights reserved.

Telemedicine and developing countries - successful implementation will require a shared approach

Telemedicine is often proposed as a solution to certain health-care problems in the developing world. There seems to be little published experience on which to make judgements. A literature search revealed 39 articles, of which only two related to any kind of direct clinical work; most of them were review articles or editorials. The majority of the work reported was educational in nature, and there has been little clinical experience. It seems probable that telemedicine can help with the education of health-care workers and patients; it seems likely that it could bring major benefits to the organization of health-care. Without proper trials, it will be impossible to determine the place of health-care in the developing world. Trials are the only way in which rational decisions can ultimately be reached regarding whether scarce resources should be devoted to telemedicine in developing countries, or whether they should be employed in more conventional health-care measures whose outcomes are known to be cost-effective.

A decision support system for selecting sanitation systems in developing countries

Due to the socio-economic inhomogeneity of communities in developing countries, the selection of sanitation systems is a complex task. To assist planners and communities in assessing the suitability of alternatives, the decision support system SANEX™ was developed. SANEX™ evaluates alternatives in two steps. First, Conjunctive Elimination, based on 20 mainly technical criteria, is used to screen feasible alternatives. Subsequently, a model derived from Multiattribute Utility Technique (MAUT) uses technical, socio-cultural and institutional criteria to compare the remaining alternatives with regard to their implementability and sustainability. This paper presents the SANEX™ algorithm, examples of its application in practice, and results obtained from field testing.

Unemployment, technological revolution and competition from developing countries

Unemployment is probably the most important social problem of our times in the rich industrial world. There are 35 million people unemployed in OECD countries(about 8,5%): the situation however differs between the USA and Europe. In this paper we will discuss the reasons for suche a difference.

Public Participation geographic information systems in developing countries: lessons from Uganda on the impacts of interactive screens PPGIS and community perceptions of space

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

A model to screen and improve business potential of micro and small enterprises in developing countries: Evidence from the Island of Mozambique

Programmes supporting micro and small enterprises in developing countries have been showing that capital is not enough to allow business success: survival and growth. Literature does not provide comprehensive and practical tool to support business development in this context, but allowed the collection of forty-nine success variables that were studied in a sample of successful and unsuccessful businesses in the Island of Mozambique to discover what were the key factors affecting those businesses’ performance. Empirical data gave the insights for the development of a model to screen and improve business potential of micro and small enterprises in this context.

History of Art and Art Criticism: A System in Crisis

This article aims to reconstruct the critical debate regarding the examination of the crisis in the disciplines of art history and criticism with a particular focus on the proposal formulated by U.S. theorists who contributed to October journal. The discrediting of many modernist critical methods, particularly that of Clement Greenberg – the formalist diktat – marked the birth of the journal and gave rise to proposals set forth by critics committed to a new approach. Their divergent positions, nonetheless, have contributed to undermining the traditional concepts of the autonomy of art and criticism. The proposals discussed over the course of publication were the result of a reappraisal of the disciplinary instruments of art history and criticism pursuant to the crucial cultural changes which took place in the 1980s.

Journal of researches into the natural history and geology of the countries visited during the voyage of H.M.S. Beagle round the world, under the command of Capt. Fitz Roy, R.N.

(1873 printing)

Convergence across countries and regions: theory and empirics

This paper surveys the recent literature on convergence across countries and regions. I discuss the main convergence and divergence mechanisms identified in the literature and develop a simple model that illustrates their implications for income dynamics. I then review the existing empirical evidence and discuss its theoretical implications. Early optimism concerning the ability of a human capital-augmented neoclassical model to explain productivity differences across economies has been questioned on the basis of more recent contributions that make use of panel data techniques and obtain theoretically implausible results. Some recent research in this area tries to reconcile these findings with sensible theoretical models by exploring the role of alternative convergence mechanisms and the possible shortcomings of panel data techniques for convergence analysis.

Distributional and Poverty Consequences of Globalization: A Dynamic Comparative Analysis for Developing Countries

This study examines the impact of globalization on cross-country inequality and poverty using a panel data set for 65 developing counties, over the period 1970-2008. With separate modelling for poverty and inequality, explicit control for financial intermediation, and comparative analysis for developing countries, the study attempts to provide a deeper understanding of cross country variations in income inequality and poverty. The major findings of the study are five fold. First, a non-monotonic relationship between income distribution and the level of economic development holds in all samples of countries. Second, both openness to trade and FDI do not have a favourable effect on income distribution in developing countries. Third, high financial liberalization exerts a negative and significant influence on income distribution in developing countries. Fourth, inflation seems to distort income distribution in all sets of countries. Finally, the government emerges as a major player in impacting income distribution in developing countries.