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17,954 results
  • Vascular malformations syndromes: an update. [Journal Article]
    Curr Opin Pediatr 2019; 31(6):747-753Martinez-Lopez A, Salvador-Rodriguez L, … Arias-Santiago S
  • CONCLUSIONS: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVES syndrome and Klippel-Trénaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. CLOVES, Klippel-Trénaunay and Proteus syndromes are associated with high risk of thrombosis and pulmonary embolism. Hereditary hemorrhagic telangiectasia is an autosomic dominant disorder characterized by the presence of arteriovenous malformations. New therapeutic strategies with bevacizumab and thalidomide have been employed with promising results.
  • A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. [Journal Article]
    Am J Med Genet C Semin Med Genet 2019Sapp JC, Buser A, … Biesecker LG
  • Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth disorders attributable to mosaic PIK3CA variants have now been characterized, leading to the designation of PIK3CA-related overgrowth spectrum (PROS). …
  • Gram-negative bacteria are internalized into osteocyte-like cells. [Journal Article]
    J Orthop Res 2019Saunders RK, Infanti J, … Adams CS
  • While Gram-positive organisms are the most common causative agent of initial bone infections, the percentage of Gram-negative species increases in reoccurring bone infections. As bacterial internalization has been suggested as one cause of reoccurring bone infection, we tested the hypothesis that Gram-negative species of bacteria can be internalized into bone cells. Using the MLO-A5 and the MLO-Y…
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