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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
Lee, Beom Hee,Aggarwal, Aneel,Slavotinek, Anne,Edelmann, Lisa,Chen, Brenden,Desnick, Robert J British Medical Association 2017 Journal of medical genetics Vol.54 No.9
<P>Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scarlike' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified defects causing FFDD3 and FFDD4. Here, the clinical phenotypes, genetic defects and inheritance of the four FFDD subtypes are described. In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these dermal facial disorders.</P>
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy
Heo, Sun Hee,Kang, Eungu,Kim, Yoon-Myung,Go, Heounjeong,Kim, Kyung Yong,Jung, Jae Yong,Kang, Minji,Kim, Gu-Hwan,Kim, Jae-Min,Choi, In-Hee,Choi, Jin-Ho,Jung, Sung-Chul,Desnick, Robert J,Yoo, Han-Wook,L BMJ Publishing Group 2017 Journal of medical genetics Vol.54 No.11
<P><B>Background</B></P><P>Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology.</P><P><B>Methods</B></P><P>Two-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease</P><P><B>Results</B></P><P>After short-term ERT (4–12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly. Among them, β-actin (ACTB), inactivated complement C3b (iC3b), and C4B were elevated significantly in pre-ERT Fabry disease plasma compared with control plasma. After longer-term ERT (46–96 months), iC3b levels gradually decreased, whereas the levels of other proteins varied. The gradual reduction of iC3b was comparable to that of Gb3 levels. In addition, iC3b increased significantly in pre-ERT Fabry disease mouse plasma, and C3 deposits were notable in renal tissues of pre-enzyme replacement therapy patients.</P><P><B>Conclusion</B></P><P>These results indicated that C3-mediated complement activation might be altered in Fabry disease and ERT might promote its stabilisation.</P>