10 research outputs found

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∌99% of the euchromatic genome and is accurate to an error rate of ∌1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Subluxation of the posterior tibial tendon into the tibiofibular syndesmosis secondary to high-level ankle fracture or dislocation: Surgical reduction technique guide and case study

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    Ankle fractures with associated dislocation of the ankle joint are a common injury presenting to emergency rooms. The first step in successful management of these injuries is with closed reduction of the dislocation and splinting in as close to anatomic alignment as possible. Infrequently, closed reduction cannot be obtained due to interposed soft tissues. In the case of ankle dislocations, subluxation of the posterior tibial tendon into the tibiofibular syndesmosis is a rare associated injury that may prevent proper reduction of the ankle mortise and, if not identified and corrected, results in a poor long-term outcome. We present a rare case of a young, healthy male college athlete who sustained a closed ankle dislocation injury with subluxation of the posterior tibial (PT) tendon through the ankle joint and into the tibiofibular syndesmosis. Additionally, we present a brief literature review and technique guide on the reduction and relocation of the posterior tibial tendon to hopefully serve as a reference for management of this rare injury type

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