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  1. Article ; Online: Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

    Copes, L E / Pober, B R / Terilli, C A

    Clinical anatomy (New York, N.Y.)

    2016  Volume 29, Issue 5, Page(s) 578–589

    Abstract: Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS ...

    Abstract Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc.
    MeSH term(s) Humans ; Musculoskeletal Abnormalities/etiology ; Physical Therapy Modalities ; Williams Syndrome/complications ; Williams Syndrome/pathology ; Williams Syndrome/therapy
    Language English
    Publishing date 2016-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1025505-9
    ISSN 1098-2353 ; 0897-3806
    ISSN (online) 1098-2353
    ISSN 0897-3806
    DOI 10.1002/ca.22685
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Article ; Online: Locomotor activity, growth hormones, and systemic robusticity: An investigation of cranial vault thickness in mouse lines bred for high endurance running.

    Copes, L E / Schutz, H / Dlugsoz, E M / Judex, S / Garland, T

    American journal of physical anthropology

    2018  Volume 166, Issue 2, Page(s) 442–458

    Abstract: Objectives: To use a mouse model to investigate the relationships among the components of the systemic robusticity hypothesis (SRH): voluntary exercise on wheels, spontaneous physical activity (SPA) in cages, growth hormones, and skeletal robusticity, ... ...

    Abstract Objectives: To use a mouse model to investigate the relationships among the components of the systemic robusticity hypothesis (SRH): voluntary exercise on wheels, spontaneous physical activity (SPA) in cages, growth hormones, and skeletal robusticity, especially cranial vault thickness (CVT).
    Materials and methods: Fifty female mice from lines artificially selected for high running (HR) and 50 from nonselected control (C) lines were housed in cages with (Active) or without wheels (Sedentary). Wheel running and SPA were monitored daily. The experiment began at 24-27 days of age and lasted 12 weeks. Food consumption was measured weekly. Mice were skeletonized and their interparietal, parietal, humerus, and femur were µCT scanned. Mean total thickness of the parietal and interparietal bones was determined, along with thickness of the cortical and diploe layers individually. Geometric cross-sectional indicators of strength were calculated for the long bones. Blood samples were assayed for IGF-1 and IGFBP-3.
    Results: Physical activity differed significantly among groups, based both on linetype (C vs. HR) and activity (A vs. S). However, contrary to our predictions, the ratio of IGF-1 to IGFBP-3 was higher in C mice than in HR mice. Neither CVT nor postcranial robusticity was affected by linetype or activity, nor were most measures of CVT and postcranial robusticity significantly associated with one another.
    Discussion: Our results fail to provide support for the systemic robusticity hypothesis, suggesting it is important to rethink the long-standing theory that increased CVT in Homo erectus reflects increased physical activity compared other hominin species.
    MeSH term(s) Animals ; Breeding ; Female ; Growth Hormone/blood ; Male ; Mice ; Physical Endurance/physiology ; Running/physiology ; Skull/anatomy & histology
    Chemical Substances Growth Hormone (9002-72-6)
    Language English
    Publishing date 2018-02-23
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 219376-0
    ISSN 1096-8644 ; 0002-9483
    ISSN (online) 1096-8644
    ISSN 0002-9483
    DOI 10.1002/ajpa.23446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ub I Zs.86: Show issues Location:
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