Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Background: Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to their pedigree, show variable genomic kinship coefficients. To investigate whether we can differentiate between couples with high- and low risk for offspring with congenital disorders, we have compared the genomic kinship coefficient of consanguineous parents with a child affected with an autosomal recessive disorder with that of consanguineous parents with only healthy children, corrected for the degree of pedigree relatedness. Methods: 151 consanguineous couples (73 cases and 78 controls) from 10 different ethnic backgrounds were genotyped on the Affymetrix platform and passed quality control checks. After pruning SNPs in linkage disequilibrium, 57,358 SNPs remained. Kinship coefficients were calculated using three different toolsets: PLINK, King and IBDelphi, yielding five different estimates (IBDelphi, PLINK (all), PLINK (by population), King robust (all) and King homo (by population)). We performed a one-sided Mann Whitney test to investigate whether the median relative difference regarding observed and expected kinship coefficients is bigger for cases than for controls. Furthermore, we fitted a mixed effects linear model to correct for a possible population effect. Results: Although the estimated degrees of genomic relatedness with the different toolsets show substantial variability, correlation measures between the different estimators demonstrated moderate to strong correlations. Controls have higher point estimates for genomic kinship coefficients. The one-sided Mann Whitney test did not show any evidence for a higher median relative difference for cases compared to controls. Neither did the regression analysis exhibit a positive association between case–control status and genomic kinship coefficient. Conclusions: In this case–control setting, in which we compared consanguineous couples corrected for degree of pedigree relatedness, a higher degree of genomic relatedness was not significantly associated with a higher likelihood of having an affected child. Further translational research should focus on which parts of the genome and which pathogenic mutations couples are sharing. Looking at relatedness coefficients by determining genome-wide SNPs does not seem to be an effective measure for prospective risk assessment in consanguineous parents

Multi-component adsorption of copper, nickel and zinc from aqueous solutions onto activated carbon prepared from date stones

The removal of Cu2+, Ni2+, and Zn2+ ions from their multi-component aqueous mixture by sorption on activated carbon prepared from date stones was investigated. In the batch tests, experimental parameters were studied, including solution pH, contact time, initial metal ions concentration, and temperature. Adsorption efficiency of the heavy metals was pH-dependent and the maximum adsorption was found to occur at around 5.5 for Cu, Zn, and Ni. The maximum sorption capacities calculated by applying the Langmuir isotherm were 18.68 mg/g for Cu, 16.12 mg/g for Ni, and 12.19 mg/g for Zn. The competitive adsorption studies showed that the adsorption affinity order of the three heavy metals was Cu2+ > Ni2+ > Zn2+. The test results using real wastewater indicated that the prepared activated carbon could be used as a cheap adsorbent for the removal of heavy metals in aqueous solutions

Type-2 diabetes and carotid stenosis: a proposal for a screening strategy in asymptomatic patients.

International audienceThe objective of this prospective observational study was to establish the prevalence of carotid atherosclerosis in an asymptomatic diabetic population and to determine predictive factors for a screening optimization. A total of 300 consecutive type-2 diabetic subjects (166 males, 134 females) underwent a physical examination and duplex carotid scanning. Patients with a recent cerebrovascular event ( or = 60% or occlusion was 4.7%; the prevalence of carotid atherosclerosis was 68.3%. Risk factors for stenosis > or = 60% or occlusion were the presence of diabetic retinopathy (OR: 3.62; 95% CI: 1.12-11.73), ankle-brachial index (ABI) 60% stenosis is highest among men with a history of coronary heart disease or an ABI <0.85

Developing Safe System Projects in Africa

When dealing with road safety in Africa, one should bear in mind that road safety problems in Africa must be seen in their own context as the solutions proposed to address them. While it is relevant to take into account international good practices, African stakeholders should become owners of the interventions addressing their problems and take the responsibility for developing and implementing the appropriate solutions, taking advantage of suitable technical assistance, if needed. Based on these considerations, in this paper a presentation is made of the process used in the European research project "SaferAfrica - Innovating dialogue and problems appraisal for a safer Africa" to develop Safe System road safety intervention proposals for Africa. SaferAfrica aims at supporting policy makers and stakeholders with evidence on critical risk factors, related actions and good practices drawn from high quality data and knowledge. This project also serves as a platform to foster effective cooperation in road safety and to propose possible next road safety steps and identify possible funding sources in those countries were capacity review is carried out. In the project, road safety and traffic management capacity reviews at the country level were carried out in four countries (Cameroon, Burkina Faso, Tunisia and Kenya), following the World Bank guidelines. After conducting such a capacity review, these guidelines recommend the preparation and implementation of Safe System projects, “stand-alone, multisector initiatives targeting high-risk corridors and areas, with outcomes large enough to be reliably measured.” In SaferAfrica, this approach aims at facilitating the implementation of Safe System projects in the considered countries, by identifying detailed short-term improvement plans, and producing contextualized Terms of Reference for a number of interventions per selected country. These interventions are remedial in nature, they address high-priority concerns and demonstrate the viability of high potential gains within current administrative and legislative frameworks. In order to design interventions suitable to the existing context, a transferability assessment tool is adopted within a “participative” process, involving all possible interested parties, from the institutions to NGOs. The tool will indicate which immediate enabling actions are required to overcome legislative, regulatory, organisational, institutional and other barriers that may prevent measures or actions from being implemented. Results from the process are presented and discussed

Defining suitable Safe System Projects in Africa

When dealing with road safety in Africa, one should bear in mind that road safety problems in Africa must be seen in their own context as the solutions proposed to address them. While it is relevant to take into account international good practices, African stakeholders should become owners of the interventions addressing their problems and take the responsibility for developing and implementing the appropriate solutions, taking advantage of suitable technical assistance, if needed. Based on these considerations, in this paper a presentation is made of the process used in the European research project SaferAfrica to define suitable Safe System projects in Africa. SaferAfrica aims at supporting policy makers and stakeholders with evidence on critical risk factors, related actions and good practices drawn from high quality data and knowledge. In the project, road safety and traffic management capacity reviews at the country level were carried out in five countries (Cameroon, Burkina Faso, Tunisia, Kenya, and South Africa), following the World Bank guidelines. After conducting such a capacity review, these guidelines recommend the preparation and implementation of Safe System projects, “stand-alone, multisector initiatives targeting high-risk corridors and areas, with outcomes large enough to be reliably measured.” In SaferAfrica, this approach aims at facilitating the implementation of Safe System projects in the considered countries, by identifying detailed short-term improvement plans, and producing contextualized Terms of Reference for a number of interventions per selected country. These interventions are remedial in nature, they address high-priority concerns and demonstrate the viability of high potential gains within current administrative and legislative frameworks. In order to design interventions suitable to the existing context, the SaferAfrica transferability audit was adopted within a “participative” process, involving all possible interested parties, from the institutions to NGOs. Results from the process are presented and discussed