45 research outputs found

    Initial Evaluation of the Pediatric PROMIS® Health Domains in Children and Adolescents With Sickle Cell Disease: Pediatric PROMIS in SCD

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    The Patient Reported Outcomes Measurement Information System (PROMIS®) has developed pediatric self-report scales measuring several unidimensional health attributes (domains) suitable for use in clinical research, but these measures have not yet been validated in sickle cell disease (SCD)

    Responsiveness of PROMIS ® Pediatric Measures to Hospitalizations for Sickle Pain and Subsequent Recovery: Pediatric PROMIS Responsiveness in SCD

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    The Patient-Reported Outcomes Measurement Information System® (PROMIS®) created pediatric self-report scales measuring a variety of health attributes (domains), but their responsiveness to changes in health status has not yet been determined in children with sickle cell disease (SCD)

    Acetabular fractures following rugby tackles: a case series

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    <p>Abstract</p> <p>Introduction</p> <p>Rugby is the third most popular team contact sport in the world and is increasing in popularity. In 1995, rugby in Europe turned professional, and with this has come an increased rate of injury.</p> <p>Case presentation</p> <p>In a six-month period from July to December, two open reduction and internal fixations of acetabular fractures were performed in young Caucasian men (16 and 24 years old) who sustained their injuries after rugby tackles. Both of these cases are described as well as the biomechanical factors contributing to the fracture and the recovery. Acetabular fractures of the hip during sport are rare occurrences.</p> <p>Conclusion</p> <p>Our recent experience of two cases over a six-month period creates concern that these high-energy injuries may become more frequent as rugby continues to adopt advanced training regimens. Protective equipment is unlikely to reduce the forces imparted across the hip joint; however, limiting 'the tackle' to only two players may well reduce the likelihood of this life-altering injury.</p

    RAB27A promotes melanoma cell invasion and metastasis via regulation of pro-invasive exosomes

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    Despite recent advances in targeted and immune-based therapies, advanced stage melanoma remains a clinical challenge with a poor prognosis. Understanding the genes and cellular processes that drive progression and metastasis is critical for identifying new therapeutic strategies. Here, we found that the GTPase RAB27A was overexpressed in a subset of melanomas, which correlated with poor patient survival. Loss of RAB27A expression in melanoma cell lines inhibited 3D spheroid invasion and cell motility in vitro, and spontaneous metastasis in vivo. The reduced invasion phenotype was rescued by RAB27A-replete exosomes, but not RAB27A-knockdown exosomes, indicating that RAB27A is responsible for the generation of pro-invasive exosomes. Furthermore, while RAB27A loss did not alter the number of exosomes secreted, it did change exosome size and altered the composition and abundance of exosomal proteins, some of which are known to regulate cancer cell movement. Our data suggest that RAB27A promotes the biogenesis of a distinct pro-invasive exosome population. These findings support RAB27A as a key cancer regulator, as well as a potential prognostic marker and therapeutic target in melanoma

    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
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