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Translational Research on Muscle and Mobility Medicine

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (28 February 2022) | Viewed by 22451

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Special Issue Editors

Prof. Dr. Usha Sinha

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Guest Editor

Department of Physics, San Diego State University, San Diego, CA, USA
Interests: aging muscle; adipose content; connective tissue content; diffusion MRI; diffusion modeling

Prof. Dr. Ugo Carraro

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Guest Editor

Department of Biomedical Sciences, University of Padova, Padova, Italy
Interests: genetic and acquired skeletal muscle disorders; functional tests; skeletal muscle imaging; biomarkers; targeted management and follow-up, functional electrical stimulation of denervated muscles; home full-body in-bed gym
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Prof. Dr. Hans Hoppeler

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Past Editor-in-Chief of Experimental Biology, Department of Anatomy, Baltzerstrasse 2, CH-3000 Bern, Switzerland
Interests: anatomy; physiology and rehabilitation of skeletal muscle disorders; functional tests; targeted management and follow-up

Prof. Dr. Shantanu Sinha

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Guest Editor

Department of Radiology, University of California at San Diego School of Medicine, San Diego, CA, USA
Interests: physics and bioengineering of skeletal muscle; clinical magnetic resonance imaging; dynamic MRI; imaging characterization of atrophy in aging and disuse skeletal muscle

Special Issue Information

Dear Colleagues,

Diagnostics and managements of genetic and acquired skeletal muscle disorders are usually treated separately by specialists who seldom interact. It is the ambitious plan of the Diagnostics Special Issue: "Translational Research on Muscle and Mobility Medicine (TRM3)" to attract the best potential contributions from disciplines spanning a wide array of topics, from human genetic and acquired myopathies to veterinary mobility disorders. The strong dependence of skeletal muscle function on the nervous system adds a layer of complexity to factors and mechanisms, in particular when pain is a major symptom of neuromuscular disorders. All diagnostics aspects of muscle and mobility medicine will be considered, including muscle functional tests and non-invasive clinical imaging, but we hope to also attract typescripts dealing with the microscopy and electron microscopy of muscle biopsy, down to molecular approaches. 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 alterations that characterize their pathogenesis and phenotypic expressions. Biomarkers were historically identified with conventional immunohistochemistry, but methods such as polymerase chain reaction and fluorescence of in situ hybridization are now extremely useful in diagnostics. Bioethical limitations to skeletal muscle biopsy harvesting pose major constraints to studies, when they include healthy young and 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 decreased quality of life and increased risk of falls and of mortality. Interventions that would promote early diagnosis with preservation or even improvement of postural stability in age-related neuromuscular decline are highly desired. The current body of literature evidences the need for 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 reviews on translational studies that seek to address state-of-the-art techniques and methodologies of skeletal muscle disorders and during follow-up of their managements. Pilot studies in small and large animals and relevant human case reports will also be warmly acknowledged.

Prof. Dr. Usha Sinha
Prof. Dr. Ugo Carraro
Prof. Dr. Hans Hoppeler
Prof. Dr. Shantanu Sinha
Guest Editors

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 submissions that pass pre-check are 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 semimonthly 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 2600 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.

Keywords

Improved functional diagnostic techniques
Next-generation clinical imaging and data-base analyses
Multigene panels for biomarker testing and next-generation sequencing
High-yielding detection in scarce muscle samples
Pilot translational studies in small and large animals
Relevant case reports

Published Papers (6 papers)

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Research

12 pages, 1863 KiB

Open AccessArticle

A New CT Analysis of Abdominal Wall after DIEP Flap Harvesting

by Tito Brambullo, Eva Kohlscheen, Diego Faccio, Francesco Messana, Roberto Vezzaro, Giulia Pranovi, Stefano Masiero, Sandra Zampieri, Barbara Ravara, Franco Bassetto and Vincenzo Vindigni

Diagnostics 2022, 12(3), 683; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12030683 - 11 Mar 2022

Cited by 1 | Viewed by 2282

Abstract

The abdominal microsurgical flap based on the deep inferior epigastric artery perforator (DIEP) flap has become the most popular option worldwide for autologous breast reconstruction. Several authors have investigated the results of reconstructed breasts, but the literature lacks systematic reviews exploring the donor site of the abdominal wall. To fulfil our aims, a new diagnostic muscle imaging analysis was designed and implemented. This study focused on rectus abdominal muscle morphology and function in a single series of 12 consecutive patients analysed before and after breast reconstruction with a microsurgical DIEP flap. Patients were divided into two groups, namely, “ipsilateral reconstruction” and “contralateral reconstruction”, depending on the side of the flap harvest and breast reconstruction, then evaluated by computed tomography (CT) scans scheduled for tumor staging, and clinically examined by a physiatrist. Numerous alterations in muscle physiology were observed due to surgical dissection of perforator vessels, and rectus muscle distress without functional impairment was a common result. Postoperatively, patients undergoing “contralateral reconstruction” appeared to exhibit fewer rectus muscle alterations. Overall, only three patients were impacted by a long-term deterioration in their quality of life. On the basis of the newly developed and implemented diagnostic approach, we concluded that DIEP microsurgical breast reconstruction is a safe procedure without major complications at the donor site, even if long-term alterations of the rectus muscle are a common finding. Full article

(This article belongs to the Special Issue Translational Research on Muscle and Mobility Medicine)

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12 pages, 1588 KiB

Open AccessArticle

Trauma of Peripheral Innervation Impairs Content of Epidermal Langerhans Cells

by Giovanna Albertin, Barbara Ravara, Helmut Kern, Sandra Zampieri, Stefan Loefler, Christian Hofer, Diego Guidolin, Francesco Messina, Raffaele De Caro, Mauro Alaibac and Ugo Carraro

Diagnostics 2022, 12(3), 567; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12030567 - 23 Feb 2022

Cited by 2 | Viewed by 1330

Abstract

Langerhans cells represent the first immune cells that sense the entry of external molecules and microorganisms at the epithelial level in the skin. In this pilot case-study, we evaluated Langerhans cells density and progression of epidermal atrophy in permanent spinal cord injury (SCI) patients suffering with either lower motor neuron lesions (LMNSCI) or upper motor neuron lesions (UMNSCI), both submitted to surface electrical stimulation. Skin biopsies harvested from both legs were analyzed before and after 2 years of home-based Functional Electrical Stimulation for denervated degenerating muscles (DDM) delivered at home (h-bFES) by large anatomically shaped surface electrodes placed on the skin of the anterior thigh in the cases of LMNSCI patients or by neuromuscular electrical stimulation (NMES) for innervated muscles in the cases of UMNSCI persons. Using quantitative histology, we analyzed epidermal thickness and flattening and content of Langerhans cells. Linear regression analyses show that epidermal atrophy worsens with increasing years of LMNSCI and that 2 years of skin electrostimulation reverses skin changes, producing a significant recovery of epidermis thickness, but not changes in Langerhans cells density. In UMNSCI, we did not observe any statistically significant changes of the epidermis and of its content of Langerhans cells, but while the epidermal thickness is similar to that of first year-LMNSCI, the content of Langerhans cells is almost twice, suggesting that the LMNSCI induces an early decrease of immunoprotection that lasts at least 10 years. All together, these are original clinically relevant results suggesting a possible immuno-repression in epidermis of the permanently denervated patients. Full article

(This article belongs to the Special Issue Translational Research on Muscle and Mobility Medicine)

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19 pages, 27737 KiB

Open AccessArticle

CT- and MRI-Based 3D Reconstruction of Knee Joint to Assess Cartilage and Bone

by Federica Kiyomi Ciliberti, Lorena Guerrini, Arnar Evgeni Gunnarsson, Marco Recenti, Deborah Jacob, Vincenzo Cangiano, Yonatan Afework Tesfahunegn, Anna Sigríður Islind, Francesco Tortorella, Mariella Tsirilaki, Halldór Jónsson, Jr., Paolo Gargiulo and Romain Aubonnet

Diagnostics 2022, 12(2), 279; https://doi.org/10.3390/diagnostics12020279 - 22 Jan 2022

Cited by 20 | Viewed by 10857

Abstract

For the observation of human joint cartilage, X-ray, computed tomography (CT) or magnetic resonance imaging (MRI) are the main diagnostic tools to evaluate pathologies or traumas. The current work introduces a set of novel measurements and 3D features based on MRI and CT data of the knee joint, used to reconstruct bone and cartilages and to assess cartilage condition from a new perspective. Forty-seven subjects presenting a degenerative disease, a traumatic injury or no symptoms or trauma were recruited in this study and scanned using CT and MRI. Using medical imaging software, the bone and cartilage of the knee joint were segmented and 3D reconstructed. Several features such as cartilage density, volume and surface were extracted. Moreover, an investigation was carried out on the distribution of cartilage thickness and curvature analysis to identify new markers of cartilage condition. All the extracted features were used with advanced statistics tools and machine learning to test the ability of our model to predict cartilage conditions. This work is a first step towards the development of a new gold standard of cartilage assessment based on 3D measurements. Full article

(This article belongs to the Special Issue Translational Research on Muscle and Mobility Medicine)

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16 pages, 4814 KiB

Open AccessArticle

Dynamics of Quadriceps Muscles during Isometric Contractions: Velocity-Encoded Phase Contrast MRI Study

by Toshiaki Oda, Vadim Malis, Taija Finni, Ryuta Kinugasa and Shantanu Sinha

Diagnostics 2021, 11(12), 2280; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11122280 - 06 Dec 2021

Cited by 4 | Viewed by 3144

Abstract

Objective: To quantify the spatial heterogeneity of displacement during voluntary isometric contraction within and between the different compartments of the quadriceps. Methods: The thigh muscles of seven subjects were imaged on an MRI scanner while performing isometric knee extensions at 40% maximal voluntary contraction. A gated velocity-encoded phase contrast MRI sequence in axial orientations yielded tissue velocity-encoded dynamic images of the four different compartments of the thigh muscles (vastus lateralis (VL), vastus medialis (VM), vastus intermedius (VI), and rectus femoris (RF)) at three longitudinal locations of the proximal–distal length: 17.5% (proximal), 50% (middle), and 77.5% (distal). The displacement, which is the time integration of the measured velocity, was calculated along the three orthogonal axes using a tracking algorithm. Results: The displacement of the muscle tissues was clearly nonuniform within each axial section as well as between the three axial locations. The ensemble average of the magnitude of the total displacement as a synthetic vector of the X, Y, and Z displacements was significantly larger in the VM at the middle location (p < 0.01), and in the VI at the distal location than in the other three muscles. The ensemble average of Z-axis displacement, which was almost aligned with the line of action, was significantly larger in VI than in the other three muscles in all three locations. Displacements of more than 20 mm were observed around the central aponeuroses, such as those between VI and the other surrounding muscles. Conclusions: These results imply that the quadriceps muscles act as one functional unit in normal force generation through the central aponeuroses despite complex behavior in each of the muscles, each of which possesses different physiological characteristics and architectures. Full article

(This article belongs to the Special Issue Translational Research on Muscle and Mobility Medicine)

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17 pages, 2116 KiB

Open AccessArticle

Muscle Oxygenation Level Might Trigger the Regulation of Capillary Venous Blood Filling during Fatiguing Isometric Muscle Actions

by Silas Dech, Frank N. Bittmann and Laura V. Schaefer

Diagnostics 2021, 11(11), 1973; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11111973 - 23 Oct 2021

Cited by 2 | Viewed by 1721

Abstract

The regulation of oxygen and blood supply during isometric muscle actions is still unclear. Recently, two behavioral types of oxygen saturation (SvO₂) and relative hemoglobin amount (rHb) in venous microvessels were described during a fatiguing holding isometric muscle action (HIMA) (type I: nearly parallel behavior of SvO₂ and rHb; type II: partly inverse behavior). The study aimed to ascertain an explanation of these two regulative behaviors. Twelve subjects performed one fatiguing HIMA trial with each arm by weight holding at 60% of the maximal voluntary isometric contraction (MVIC) in a 90° elbow flexion. Six subjects additionally executed one fatiguing PIMA trial by pulling on an immovable resistance with 60% of the MVIC with each side and same position. Both regulative types mentioned were found during HIMA (I: n = 7, II: n = 17) and PIMA (I: n = 3, II: n = 9). During the fatiguing measurements, rHb decreased initially and started to increase in type II at an average SvO₂-level of 58.75 ± 2.14%. In type I, SvO₂ never reached that specific value during loading. This might indicate the existence of a threshold around 59% which seems to trigger the increase in rHb and could explain the two behavioral types. An approach is discussed to meet the apparent incompatibility of an increased capillary blood filling (rHb) despite high intramuscular pressures which were found by other research groups during isometric muscle actions. Full article

(This article belongs to the Special Issue Translational Research on Muscle and Mobility Medicine)

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23 pages, 2835 KiB

Open AccessArticle

Assessment of the Adaptive Force of Elbow Extensors in Healthy Subjects Quantified by a Novel Pneumatically Driven Measurement System with Considerations of Its Quality Criteria

by Silas Dech, Frank N. Bittmann and Laura V. Schaefer

Diagnostics 2021, 11(6), 923; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11060923 - 21 May 2021

Cited by 10 | Viewed by 1905

Abstract

Adaptive Force (AF) reflects the capability of the neuromuscular system to adapt adequately to external forces with the intention of maintaining a position or motion. One specific approach to assessing AF is to measure force and limb position during a pneumatically applied increasing external force. Through this method, the highest (AF_max), the maximal isometric (AFiso_max) and the maximal eccentric Adaptive Force (AFecc_max) can be determined. The main question of the study was whether the AFiso_max is a specific and independent parameter of muscle function compared to other maximal forces. In 13 healthy subjects (9 male and 4 female), the maximal voluntary isometric contraction (pre- and post-MVIC), the three AF parameters and the MVIC with a prior concentric contraction (MVICpri-con) of the elbow extensors were measured 4 times on two days. Arithmetic mean (M) and maximal (Max) torques of all force types were analyzed. Regarding the reliability of the AF parameters between days, the mean changes were 0.31–1.98 Nm (0.61%–5.47%, p = 0.175–0.552), the standard errors of measurements (SEM) were 1.29–5.68 Nm (2.53%–15.70%) and the ICCs(3,1) = 0.896–0.996. M and Max of AFiso_max, AF_max and pre-MVIC correlated highly (r = 0.85–0.98). The M and Max of AFiso_max were significantly lower (6.12–14.93 Nm; p ≤ 0.001–0.009) and more variable between trials (coefficient of variation (CVs) ≥ 21.95%) compared to those of pre-MVIC and AF_max (CVs ≤ 5.4%). The results suggest the novel measuring procedure is suitable to reliably quantify the AF, whereby the presented measurement errors should be taken into consideration. The AFiso_max seems to reflect its own strength capacity and should be detected separately. It is suggested its normalization to the MVIC or AF_max could serve as an indicator of a neuromuscular function. Full article

(This article belongs to the Special Issue Translational Research on Muscle and Mobility Medicine)

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