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PubMed · 3576271

Direct browplasty.

Abstract

To the facial plastic and reconstructive surgeon, direct browplasty is a useful adjunct to other facial rejuvenative procedures. Unlike other procedures designed to correct the ptotic brow, direct browplasty allows the surgeon to reposition the brow more accurately. In addition, use of a layered plastic closure results in an acceptable surgical scar that can further be camouflaged with appropriate cosmetic techniques in selected patients. The indications, surgical technique, and postoperative care are described.

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BibTeXRIS

R C Jarchow. 1987. Direct browplasty.. https://doi.org/10.1097/00007611-198705000-00012

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Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)(6) is the normal repeat length. We investigated a Korean patient with OPMD and identified a novel mutation: a heterozygous insertion of a 9-bp sequence [(GCG)(GCA)(GCA); c.27_28insGCGGCAGCA] instead of the (GCG) repeat expansion, resulting in an in-frame insertion of three alanines (p.A10insAAA). To the best of our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.

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