Special Issue "Skeletal Muscle Diagnostics and Managements"
Deadline for manuscript submissions: closed (31 December 2020).
Interests: genetic and acquired skeletal muscle disorders; functional tests; skeletal muscle imaging; biomarkers; targeted management and follow-up
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Diagnostics and management of genetic and acquired skeletal muscle disorders are grossly under-studied, and peculiarities specific to these medical problems are treated ever more separately by specialists who seldom interact and collaborate. It is the ambitious plan of this Diagnostics Special Issue on Skeletal Muscle Diagnostics and Managements to attract the best potential contributions from disciplines spanning a wide array of topics, ranging from human genetic myopathies to veterinary mobility disorders. The strong dependence of skeletal muscle function on the nervous system adds a layer of complexity to the list of factors and mechanisms that ought to be analyzed, in particular with cases in which pain is a major determinant of neuromuscular disorders. All aspects of skeletal muscle diagnostics will be considered, including the many available functional tests and non-invasive clinical imaging, and extending to the bioptic microscopic, ultramicroscopic and molecular levels. Advances in molecular profiling technologies have led to the understanding that not only genetic myopathies, but all neuromuscular disorders, are very different diseases, characterized by specific molecular alterations that are eligible for targeted therapies. Biomarkers have been historically identified mainly with conventional immunohistochemistry (IHC) techniques using formalin-fixed paraffin-embedded tissues or, more recently, cryo-sectioned samples. Methods such as polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) have become extremely useful in diagnostics. Bioethical limitations to skeletal muscle biopsy pose major constraints to studies, which include healthy aging persons and a mandatory control group for evidence-based trials of aging populations. Aging and associated changes in motor, sensory and cognitive systems result in the impairment of postural stability, which is associated with increased risk of falls and decreased quality of life. Interventions that would promote preservation or even improvement of postural stability in age-related neuromuscular decline are highly desired. The current body of literature evidences the need for better evaluation of different interventions designed to improve the balance and postural stability of the elderly, as assessed through different laboratory and clinical diagnostic tests. Therefore, alternative screening modalities are needed to simultaneously identify multiple biomarkers in a single experiment and improve the use of the precious biopsied muscle tissue. We invite investigators to contribute original research articles as well as review articles that seek to address state-of-the-art techniques and methodologies for detecting, predictive and prognostic tests for and biomarkers of skeletal muscle disorders. Relevant case reports will be warmly acknowledged.
Prof. Dr. Ugo Carraro
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Improved functional diagnostic techniques
- Next-generation clinical imaging and data-base analyses
- Multigene panels for molecular biomarker testing
- Next-generation sequencing approaches
- High-yielding detection in scarce muscle samples