Background Familial adenomatous polyposis (FA P) results from a germline mutation in the adenomatous polypsis coli (APC) gene on chromosome 5q21. The extracolonic manifestations of FAP include pigmented ocular fundus lesions (POF LS), cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. P O F L S are present at birth in about 80% of patients with F A P and are excellent clinical congenital markers for the disease. We studied the distribution of POFLS by number and A P C mutation in families of the Johns Hopkins Polyposis Registry. Materials and methods Of the 51 families with FAP, 42 (82%) had an identifiable A P C mutation. We correlated the presence/absence and distribution by number of POFLS with the type and location of the mutation in the A P C gene in 21 families where an ocular examination had been performed in at least one affected member, and where a systematic search for mutations in the A P C gene had been undertaken. Families were considered PoFL-positive if the average number of lesions per patient was three or more, or if at least one family member had three or more lesions. ResuZtsFifteen of the 21 families (71.4%) were PoFL-positive. Mutations of the A P C gene were detected in 15 of the 21 families. Of these, 12 (80%) were PoFL-positive. Families with mutations at codons 215 (exon 5) and 302 (exon 8) were PoFL-negative. Families with mutations at codons 541, 625, 1 o~~ , 1 o~~, 1 0 6 1 , 1 2 3 0 , 1~o~, 1465, and 1546 (exons 12-15) were PoFL-positive. One patient with a mutation at codon 2621 (exon 15) had no POFLS. Conclusions Mutations in exons 1-8 and the distal portion of exon 15 of the A P C gene are associated with a PoFL-negative phenotype,while those in exons 10
The ROOF was formerly unrecognized as an important sentinel marker for possible injury to the temporal nerve branch during browlift. However, this cadaver study and its accompanying literature comparisons show that browlift dissection, whether endoscopic or open, should aim to keep the ROOF fat in the superficial plane, ensuring that the nerve branch is safe from iatrogenic injury.
As the use of closed incision negative pressure therapy (ciNPT) becomes more widespread, dressing designs have evolved to address implementation challenges and meet surgeon demand. While traditional application of ciNPT was limited to the immediate suture line, a novel dressing that covers the incision and additional surrounding tissues has become available. To expand upon previous ciNPT recommendations and provide guidance on this new dressing, an expert panel of plastic surgeons convened to review the current literature, identify challenges to the implementation and sustainability of ciNPT, and use a modified Delphi technique to form a consensus on the appropriate use of ciNPT with full‐coverage dressings. After three rounds of collecting expert opinion via the Delphi method, consensus was reached if 80% of the panel agreed upon a statement. This manuscript establishes 10 consensus statements regarding when ciNPT with full‐coverage foam dressings should be considered or recommended in the presence of patient or incision risk factors, effective therapeutic settings and duration, precautions for use, and tools and techniques to support application. The panel also discussed areas of interest for future study of ciNPT with full‐coverage dressings. High‐quality, controlled studies are needed to expand the understanding of the benefits of ciNPT over the incision and surrounding tissues.
Introduction The wrist represents a complex anatomic region in the upper extremity and a highly functional and intricate structural joint. Perilunate injuries have classically been described as involving a greater or lesser arc as described by Mayfield and imply a specific pattern of force transmission. The greater and lesser arc classifications do not include descriptions of when non-scaphoid carpal fractures occur as part of a perilunate injury. Methods/Results We present three cases of complex and rare perilunate fracture dislocation patterns and discuss the surgical management as a treatment model for these complex wrist injuries: the trans-scaphoid, trans-capitate perilunate dislocation, the trans-scapholunate ligament, trans-capitate dislocation, and the trans-scaphoid, transtriquetral perilunate dislocation. Discussion Although there is a low incidence of injury to non-scaphoid carpal bones, it is beneficial to understand the approach to the perilunate reduction and scaphoid fixation through a combined volar and dorsal approach, which will also allow for the reduction and fixation of more rare and complex carpal fractures.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.