Objective To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS). Study design Renal ultrasound scans and plasma ...creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations. Results Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation-negative group ( P = .015). No correlation was found between the presence or absence of renal or urinary tract malformations and the location or type of MLL2 mutation. Renal function was normal except for 1 patient with a MLL2 mutation diagnosed in the first days of life and severe renal disease due to unilateral renal agenesia and controlateral severe hypoplasia that progressed to the terminal stage at age 2 years. Conclusion Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS.
To systematically review the evidence for the use of PSA and other biomarkers in the early detection of prostate cancer, we searched PubMed for clinical trials and studies assessing PSA and other ...biomarkers in the early detection of prostate cancer, published between 2000 and May 2013 that included >200 subjects. The level of evidence (LOE) for clinical utility was evaluated using the tumor marker utility grading system. A total of 84 publications, corresponding to 70 trials and studies were selected for inclusion in this review. We attributed a level of evidence (LoE) of IA to PSA for early PCa detection, but we do not recommend its use in mass screening. Emerging biomarkers were assessed in prospective case-control and cohort studies: PCA3 (n=3); kallikreins (n=3); -2proPSA (n=5); fusion oncogenes (n=2). These studies used biopsy results for prostate cancer to determine specificity and sensitivity, but they did not assess the effect on PCa mortality. The LoE attributed was III-C. PSA can be used for early prostate cancer detection but mass screening is not recommended. Studies on other biomarkers suggest that they could be used, individually or in combination, to improve the selection of patients with elevated PSA levels for biopsy, but RCTs assessing their impact on prostate cancer management and mortality are needed. A better use of available tests is possible for men at risk in order to maximize the risk-benefit ratio.
Gaultier de Biauzat Jean-François, Legrand Jérome, Lebrun Charles François, Delavigne Jacques, Salomon, Dellay-d'Agier ou Delay Claude Pierre de, Ramel de Nogaret Dominique Vincent, Bouche ...Charles-François. Suite de la discussion sur les ponts et chaussées, lors de la séance du 6 août 1791. In: Tome XXIX - Du 29 juillet au 27 août 1791. pp. 225-227.
Depuis les Indépendances, le tourisme en Afrique a été appréhendé par les chercheurs tour à tour comme une forme de néo-colonialisme, un facteur de développement, comme destructeur des sociétés ...traditionnelles locales, puis comme facteur de paix et de rencontre entre les peuples. La figure néo-coloniale du touriste blanc, riche et puissant, tant décriée par les chercheurs des années 1970, laisse de plus en plus la place à celle du touriste culturel, solidaire ou équitable, en quête de rencontre avec l’autre. La vingtaine de contributions réunies dans ce numéro visent à déplacer la réflexion d'une problématique trop souvent basée sur l'impact du tourisme en Afrique à un questionnement sur les imaginaires touristiques portés sur ce continent, sur la manière dont les acteurs locaux et les autorités publiques participent à leur création, se les approprient ou les contestent. Ce volume met l'accent sur les circulations transnationales, les réseaux, le politique, les enjeux identitaires. Il montre surtout que le touriste n'est plus un simple spectateur. Du Maghreb à l'Afrique du Sud, les auteurs révèlent la dimension participative des pratiques touristiques contemporaines sur le continent.
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