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13. General Assembly, Prevention, Operating Room - Surgical Technique: Proceedings of International Consensus on Orthopedic Infections

Author

Alaee, Farhang, Angerame, Marc, Bradbury, Thomas, Blackwell, Ryan, Booth, Robert E., Brekke, Adam C., Courtney, Paul M., Frenkel, Tal, Grieco Silva, Francisco Rafael, Heller, Snir, Hube, Robert, Ismaily, Sabir, Jennings, Jason, Lee, Merrill, Noble, Philip C., Ponzio, Danielle, Saxena, Arjun, Simpson, Hamish, Smith, Brian M., Smith, Eric B., Stephens, Sara, Vasarhelyi, Edward, Wang, Qiaojie, and Yeo, Seng Jin

Published
2019
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20. Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to the 18q Chromosome

Author

Gurnett, Christina A, Alaee, Farhang, Bowcock, Anne, Kruse, Lisa, Lenke, Lawrence G., Bridwell, Keith H., Kuklo, Timothy, Luhmann, Scott J., and Dobbs, Matthew B.

Subjects
Aged, 80 and over, Male, Sternum, Adolescent, Genetic Linkage, DNA Mutational Analysis, Chromosome Mapping, Middle Aged, Article, Spine, Radiography, Young Adult, Age Distribution, Scoliosis, Funnel Chest, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Sex Distribution, Child, Chromosomes, Human, Pair 18
Abstract

A single large family, in which adolescent idiopathic scoliosis (AIS) and pectus excavatum (PE) segregate as an autosomal dominant condition, was evaluated. Genome-wide linkage analysis and candidate gene sequencing were performed.To map the disease-causing locus in a large white family in which AIS and PE cosegregate.AIS and PE are common musculoskeletal conditions known to have a genetic component, though few genes have been identified for either. Genetic studies have been confounded by a lack of large families in which the disorders segregate.Clinical examinations were performed on the proband, who underwent posterior spinal fusion, and 12 additional affected family members. To map a gene causing AIS and PE, a genome-wide linkage analysis was performed with the Affymetrix Mapping 10 K XbaI array on 13 affected and 10 unaffected family members. Candidate genes were sequenced.AIS was present in 13 female family members and PE was present in 3 males and 1 female. Genome-wide linkage analysis resulted in a linkage peak on chromosome 18 q with a maximum parametric multipoint logarithm of the odds score of 3.86. Recombinants delineated the critical genetic region to an interval of 6.4 cM between SNP_A-1519369 and SNP_A-1507702, corresponding to a 7.06-Mb region (hg18: chr18:26342508-34395660). The chromosome 18 q linkage region contains more than 30 genes. Resequencing of the coding regions of 21 candidate genes in the region did not reveal any causative mutation.Linkage analysis in this large family demonstrated a novel locus for AIS and PE on chromosome 18 q. Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies.

Published
2009

26. The enthesis: a review of the tendon-to-bone insertion.

Author

Apostolakos, John, Durant, Thomas J. S., Dwyer, Corey R., Russell, Ryan P., Weinreb, Jeffrey H., Alaee, Farhang, Beitzel, Knut, McCarthy, Mary Beth, Cote, Mark P., and Mazzocca, Augustus D.

Subjects
*BONE marrow, *BONES, *CONNECTIVE tissues, *GUIDED tissue regeneration, *STEM cells, *PLASTIC surgery, *TENDONS, *PLATELET-rich plasma
Abstract

The integration of tendon into bone occurs at a specialized interface known as the enthesis. The fibrous tendon to bone enthesis is established through a structurally continuous gradient from uncalcified tendon to calcified bone. The enthesis exhibits gradients in tissue organization classified into four distinct zones with varying cellular compositions, mechanical properties, and functions in order to facilitate joint movement. Damage to tendinous insertions is common in the field of orthopaedic medicine and often involves surgical intervention that requires the attempted recreation of the natural organization of tendon into bone. The difficulty associated with recreating the distinct organization may account for the surgical challenges associated with reconstruction of damaged insertion sites. These procedures are often associated with high failure rates and consequently require revision procedures. Management of tendinous injuries and reconstruction of the insertion site is becoming a popular topic in the field of orthopaedic medicine. [ABSTRACT FROM AUTHOR]

Published
2014

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