ObjectiveSpinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30–50) in populations of European and Asian descent. SMN copy numbers and SMA carrier frequencies have not been reliably estimated in Malians and other sub‐Saharan Africans.MethodsWe used a quantitative polymerase chain reaction assay to determine SMN1 and SMN2 copy numbers in 628 Malians, 120 Nigerians, and 120 Kenyans. We also explored possible mechanisms for SMN1 and SMN2 copy number differences in Malians, and investigated their effects on SMN mRNA and protein levels.ResultsThe SMA carrier frequency in Malians is 1 in 209, lower than in Eurasians. Malians and other sub‐Saharan Africans are more likely to have ≥3 copies of SMN1 than Eurasians, and more likely to lack SMN2 than Europeans. There was no evidence of gene conversion, gene locus duplication, or natural selection from malaria resistance to account for the higher SMN1 copy numbers in Malians. High SMN1 copy numbers were not associated with increased SMN mRNA or protein levels in human cell lines.InterpretationSMA carrier frequencies are much lower in sub‐Saharan Africans than in Eurasians. This finding is important to consider in SMA genetic counseling in individuals with black African ancestry. Ann Neurol 2014;75:525–532

Background. We performed 2 cross-sectional studies in Ménaka in the Northeastern Mali across 9 sites in different ecological settings: 4 sites have permanent ponds, 4 without ponds, and one (City of Ménaka) has a semipermanent pond. We enrolled 1328 subjects in May 2004 (hot dry season) and 1422 in February 2005 (cold dry season) after the rainy season.Objective.To examine the seasonality of malaria parasite prevalence in this dry northern part of Mali at the edge of the Sahara desert.Results. Slide prevalence was lower in hot dry than cold dry season (4.94 versus 6.85%,P=0.025). Gametocyte rate increased to 0.91% in February. Four species were identified.Plasmodium falciparumwas most prevalent (74.13 and 63.72%).P. malariaeincreased from 9.38% to 22.54% in February. In contrast, prevalence ofP. vivaxwas higher (10.31%) without seasonal variation. Smear positivity was associated with splenomegaly (P=0.007). Malaria remained stable in the villages with ponds (P=0.221); in contrast, prevalence varied between the 2 seasons in the villages without ponds (P=0.004).Conclusion. Malaria was mesoendemic; 4 species circulates with a seasonal fluctuation forPlasmodium falciparum.

Position du problème: Tester  l'apport d'une supplémentation en farine fortifiée chez les personnes vivant avec le VIH sous traitement antirétroviral au Mali. Méthodes : Nous avons réalisé une étude prospective longitudinale chez 52 patients infectés par le VIH en ambulatoire sous traitement antirétroviral. A l'introduction de la farine "Misola", les paramètres de suivi à 3 mois ont été : (poids/taille), le taux de CD4 et la numération formule sanguine. Résultats : La majorité de nos patients était des femmes (69%). L'âge moyen était de 38 ans avec des extrêmes de 20 à 58 ans. La normalisation de l'indice de masse corporel de J15 à J60 était de 100%. L'augmentation de la reprise pondérale était significative (p=0,0001). Les paramètres biologiques étudiés  étaient également augmentés à J60. Conclusion : La supplémentation en farine Misola semble être un facteur de gain pondéral rapide chez les PVIH sous ARV. Nous recommandons une étude randomisée sur un grand échantillon pour confirmer ces résultats