Download Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations by Denise van der Linde, Jolien Roos-Hesselink, Bart L. Loeys PDF

By Denise van der Linde, Jolien Roos-Hesselink, Bart L. Loeys

Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, examine, and care linked to AOS. With the sector of genetically caused aortopathies transforming into, this significant reference will bring together the latest discoveries during this box, permitting cardiologists, cardio-thoracic surgeons, medical geneticists, vascular surgeons, orthopedic surgeons, and researchers to realize the data they wish with no need to collect the knowledge from a number of sources.

Coverage contains genotype and phenotype correlations, the useful position of SMAD3, and insights into the function of TGFbeta signaling in aortic illness. The e-book increases wisdom approximately AOS, supplying know-how and higher sufferer take care of this competitive disease.

  • Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to sufferer care
  • Contains medical administration suggestions on optimum cardiovascular remedies and surgery
  • Explains the autosomal dominant syndromes as a result of mutations within the SMAD3 gene
  • Identifies the main good points of this syndrome, together with arterial aneurysms and tortuosity, early onset arthritis, and gentle craniofacial features

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Extra info for Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations

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All MFS patients should undergo an extensive aortic imaging study (CT or MRI) prior to pregnancy. In addition to the risk of dissection during or shortly after pregnancy, there is concern over the long-term effect of pregnancy in aortic root growth in patients with MFS. A prospective study indicated that aortic root growth rate increased during pregnancy and did not return to normal afterward. The prevalence of aortic dissection and elective aortic surgery during long-term follow-up was higher in those women who had a prior pregnancy [159].

11] Pyeritz R. Marfan syndrome and related disorders. Emery and Rimoin’s Essential Medical Genetics. Elsevier; 2013. p. 567–74. [12] Rybczynski M, Treede H, Sheikhzadeh S, Groene EF, Bernhardt AMJ, Hillebrand M, et al. Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 2011;107(2):268–74. [13] Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet 1972;35(3):331–6. [19] Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999;65(4):1007–20. [20] Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

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