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pectus excavatum

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Mya Symons, Jun 8, 2013.

  1. Allyson

    Allyson *****

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    Australia, Melbourne
    not sure where you are in the world Mya but this is intersting on missed EDS Dx - also inlcudes upright MRIs to measure postural drop iin blood flow

    This young first noticed symptoms fo her congenital condition whne she wasat university.


    http://www.thewhig.com/2013/06/07/a-systemic-lack-of-awareness-of-eds


    A
  2. Allyson

    Allyson *****

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    Australia, Melbourne
    found it Mya


    Ehlers-Danlos Syndrome, Kyphoscoliotic Form


    Synonyms: EDS, Kyphoscoliotic Form; EDS Type VI; EDS VI; Ehlers-Danlos Syndrome Type VI; Lysyl-Hydroxylase Deficiency. Includes: Ehlers-Danlos Syndrome Type VIA, Nevo Syndrome

    Heather N Yeowell, PhD and Beat Steinmann, MD.



     

    Initial Posting: February 2, 2000; Last Update: January 24, 2013.

    Go to:



    Summary


    Disease characteristics. Ehlers-Danlos syndrome (EDS), kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility with increased risk of rupture of the globe. Intelligence is normal; life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.

    Diagnosis/testing. EDS, kyphoscoliotic form is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). The diagnosis of EDS, kyphoscoliotic form relies on the demonstration of a markedly increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high-performance liquid chromatography (HPLC) (a highly sensitive, specific, and inexpensive test) and/or assay of lysyl hydroxylase enzyme activity in skin fibroblasts. Molecular genetic testing of PLOD1, the only gene in which mutations are known to cause EDS, kyphoscoliotic form, is available.


    A



     

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