244 research outputs found
La maladie de Fanconi: Ă propos dâune nouvelle observation
La maladie de Fanconi ou l'anémie de Fanconi (AF) est une maladie génétique rare à transmission autosomique récessive. Elle est marquée parune hétérogénéité phénotypique. Certains symptÎmes et notamment la triade classique faite d'une petite taille, d'un syndrome malformatif varié et parfois discret et d'une insuffisance médullaire d'apparition précoce, doivent faire évoquer le diagnostic. Nous rapportons le cas d'un enfant ùgé de sept ans, suivi et traité pour une luxation congénitale des hanches, qui présentait une pancytopénie avec à l'examen clinique on note un faciÚs dysmorphique triangulaire, une duplication du pouce droit, une surélévation de l'épaule gauche et un retard staturo-pondéral
Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen
La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelĂ©es phacomatoses. C'est une affection autosomique dominante relativement rare. La NF1 est caractĂ©risĂ©e par une extrĂȘme variabilitĂ© clinique que l'on retrouve Ă©galement au sein d'une mĂȘme famille. Le tableau clinique de la NF1 associe, le plus souvent, de multiples taches cafĂ© au lait, des lentigines axillaires ou inguinales, des neurofibromes cutanĂ©s et des nodules de Lisch. Les difficultĂ©s d'apprentissage sont frĂ©quentes et peuvent ĂȘtre graves dans certaines formes cliniques. Il est important de dĂ©tecter prĂ©cocement les neurofibromes plexiformes, les gliomes intracĂ©rĂ©braux, les tumeurs des gaines nerveuses, les anomalies vasculaires et les dysplasies osseuses. L'Ă©volution est imprĂ©visible ce qui rend le pronostic incertain par une Ă©ventuelle survenue dedĂ©gĂ©nĂ©rescence malignes. Nous rapportons ici l'observation d'une grande tache cutanĂ©e pigmentĂ©e pilleuse de dĂ©couverte fortuite qui nous a rĂ©vĂ©lĂ© deux cas familiaux de neurofibromatose 1 d'expression diffĂ©rente
Women for science and science for women: Gaps, challenges and opportunities towards optimizing pre-exposure prophylaxis for HIV-1 prevention
Preventing new HIV infections remains a global challenge. Young women continue to bear a disproportionate burden of infection. Oral pre-exposure prophylaxis (PrEP), offers a novel women-initiated prevention technology and PrEP trials completed to date underscore the importance of their inclusion early in trials evaluating new HIV PrEP technologies. Data from completed topical and systemic PrEP trials highlight the role of gender specific physiological and social factors that impact PrEP uptake, adherence and efficacy. Here we review the past and current developments of HIV-1 prevention options for women with special focus on PrEP considering the diverse factors that can impact PrEP efficacy. Furthermore, we highlight the importance of inclusion of female scientists, clinicians, and community advocates in scientific efforts to further improve HIV prevention strategies
Expansion of CD4+CD25+ helper T cells without regulatory function in smoking and COPD
<p>Abstract</p> <p>Background</p> <p>Regulatory T cells have been implicated in the pathogenesis of COPD by the increased expression of CD25 on helper T cells along with enhanced intracellular expression of FoxP3 and low/absent CD127 expression on the cell surface.</p> <p>Method</p> <p>Regulatory T cells were investigated in BALF from nine COPD subjects and compared to fourteen smokers with normal lung function and nine never-smokers.</p> <p>Results</p> <p>In smokers with normal lung function, the expression of CD25<sup>+</sup>CD4<sup>+ </sup>was increased, whereas the proportions of FoxP3<sup>+ </sup>and CD127<sup>+ </sup>were unchanged compared to never-smokers. Among CD4<sup>+ </sup>cells expressing high levels of CD25, the proportion of FoxP3<sup>+ </sup>cells was decreased and the percentage of CD127<sup>+ </sup>was increased in smokers with normal lung function. CD4<sup>+</sup>CD25<sup>+ </sup>cells with low/absent CD127 expression were increased in smokers with normal lung function, but not in COPD, when compared to never smokers.</p> <p>Conclusion</p> <p>The reduction of FoxP3 expression in BALF from smokers with normal lung function indicates that the increase in CD25 expression is not associated with the expansion of regulatory T cells. Instead, the high CD127 and low FoxP3 expressions implicate a predominantly non-regulatory CD25<sup>+ </sup>helper T-cell population in smokers and stable COPD. Therefore, we suggest a smoking-induced expansion of predominantly activated airway helper T cells that seem to persist after COPD development.</p
Identification of a Regulatory T Cell Specific Cell Surface Molecule that Mediates Suppressive Signals and Induces Foxp3 Expression
Regulatory T (Treg) cells control immune activation and maintain tolerance. How Tregs mediate their suppressive function is unclear. Here we identified a cell surface molecule, called GARP, (or LRRC32), which within T cells is specifically expressed in Tregs activated through the T cell receptor (TCR). Ectopic expression of GARP in human naĂŻve T (TN) cells inhibited their proliferation and cytokine secretion upon TCR activation. Remarkably, GARP over-expression in TN cells induced expression of Treg master transcription factor Foxp3 and endowed them with a partial suppressive function. The extracellular but not the cytoplasmic region of GARP, was necessary for these functions. Silencing Foxp3 in human Treg cells reduced expression of GARP and attenuated their suppressive function. However, GARP function was not affected when Foxp3 was downregulated in GARP-overexpressing cells, while silencing GARP in Foxp3-overexpressing cells reduced their suppressive activity. These findings reveal a novel cell surface molecule-mediated regulatory mechanism, with implications for modulating aberrant immune responses
Elevated myeloid-derived suppressor cells in pancreatic, esophageal and gastric cancer are an independent prognostic factor and are associated with significant elevation of the Th2 cytokine interleukin-13
We undertook a comprehensive analysis of circulating myeloid-derived suppressor cells (MDSCs) and T regulatory cells (Tregs) in pancreatic, esophageal and gastric cancer patients and investigated whether MDSCs are an independent prognostic factor for survival. We evaluated a series of plasma cytokines and in particular re-evaluated the Th2 cytokine interleukin-13 (IL-13). Peripheral blood was collected from 131 cancer patients (46 pancreatic, 60 esophageal and 25 gastric) and 54 healthy controls. PBMC were harvested with subsequent flow cytometric analysis of MDSC (HLADRâ Lin1low/â CD33+ CD11b+) and Treg (CD4+ CD25+ CD127low/â FoxP3+) percentages. Plasma IL-2, IL-4, IL-5, IL-6, IL-10, IL-12 (p70), IL-13, IL-17, G-CSF, IFN-Îł, TNF-α and VEGF levels were analyzed by the Bio-Plex cytokine assay. Plasma arginase I levels were analyzed by ELISA. MDSCs and Tregs were statistically significantly elevated in pancreatic, esophageal and gastric cancer compared with controls, and MDSC numbers correlated with Treg levels. Increasing MDSC percentage was associated with increased risk of death, and in a multivariate analysis, MDSC level was an independent prognostic factor for survival. A unit increase in MDSC percentage was associated with a 22% increased risk of death (hazard ratio 1.22, 95% confidence interval 1.06â1.41). Arginase I levels were also statistically significantly elevated in upper gastrointestinal cancer patients compared with controls. There was Th2 skewing for cytokine production in all three diseases, and importantly there were significant elevations of the pivotal Th2 cytokine interleukin-13, an increase that correlated with MDSC levels
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