Special Issue "Skeletal Muscle Diagnostics and Managements"

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

Deadline for manuscript submissions: closed (31 December 2020).

Special Issue Editor

Prof. Dr. Ugo Carraro
E-Mail Website
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
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Special Issue Information

Dear Colleagues, 

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
Guest Editor

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Keywords

  • 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

Published Papers (15 papers)

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Research

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Article
Selective Surface Electrostimulation of the Denervated Zygomaticus Muscle
Diagnostics 2021, 11(2), 188; https://doi.org/10.3390/diagnostics11020188 - 28 Jan 2021
Cited by 1 | Viewed by 498
Abstract
This article describes a first attempt to generate a standardized and safe selective surface electrostimulation (SES) protocol, including detailed instructions on electrode placement and stimulation parameter choice to obtain a selective stimulation of the denervated zygomaticus muscle (ZYG), without unwanted simultaneous activation of [...] Read more.
This article describes a first attempt to generate a standardized and safe selective surface electrostimulation (SES) protocol, including detailed instructions on electrode placement and stimulation parameter choice to obtain a selective stimulation of the denervated zygomaticus muscle (ZYG), without unwanted simultaneous activation of other ipsilateral or contralateral facial muscles. Methods: Single pulse stimulation with biphasic triangular and rectangular waveforms and pulse widths (PW) of 1000, 500, 250, 100, 50, 25, 15, 10, 5, 2, 1 ms, at increasing amplitudes between 0.1 and 20 mA was performed. Stimulations delivered in trains were assessed at a PW of 50 ms only. The stimulation was considered successful exclusively if it drew the ipsilateral corner of the mouth upwards and outwards, without the simultaneous activation of other ipsilateral or contralateral facial muscles. I/t curves, accommodation quotient, rheobase, and chronaxie were regularly assessed over 1-year follow-up. Results: 5 facial paralysis patients were assessed. Selective ZYG response in absence of discomfort and unselective contraction of other facial muscle was reproducibly obtained for all the assessed patients. The most effective results with single pulses were observed with PW ≥ 50 ms. The required amplitude was remarkably lower (≤5 mA vs. up to 15 mA) in freshly diagnosed (≤3 months) than in long-term facial paralysis patients (>5 years). Triangular was more effective than rectangular waveform, mostly because of the lower discomfort threshold of the latter. Delivery of trains of stimulation showed similar results to the single pulse setting, though lower amplitudes were necessary to achieve the selective ZYG response. Initial reinnervation signs could be detected effectively by needle-electromyography (n-EMG). Conclusion: It is possible to define stimulation parameters able to elicit an effective selective stimulation of a specific facial muscle, in our case, of the ZYG, without causing discomfort to the patient and without causing unwanted unspecific reactions of other ipsilateral and/or contralateral facial muscles. We observed that the SES success is strongly conditioned by the correct electrode placement, which ideally should exclusively interest the area of the target muscles and its immediate proximity. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Ultrasound Imaging of Crural Fascia and Epimysial Fascia Thicknesses in Basketball Players with Previous Ankle Sprains Versus Healthy Subjects
Diagnostics 2021, 11(2), 177; https://doi.org/10.3390/diagnostics11020177 - 26 Jan 2021
Viewed by 588
Abstract
Background: Fascial layers may play an important role in locomotor mechanics. Recent researches have revealed an association between increases of fascia thickness and reduced joint flexibility in patients with chronic pain. The purpose of this study was to measure and compare, through the [...] Read more.
Background: Fascial layers may play an important role in locomotor mechanics. Recent researches have revealed an association between increases of fascia thickness and reduced joint flexibility in patients with chronic pain. The purpose of this study was to measure and compare, through the use of ultrasound imaging, the thickness of the deep/crural fascia in different points of the leg as well as the epimysial fascia thickness at level 2 of anterior compartment of leg, in male basketball players with history of recurrent ankle sprain and in healthy participants. Methods: A cross-sectional study has been performed using ultrasound imaging to measure deep/crural fascia thickness of anterior, lateral and posterior compartment of the leg at different levels with a new protocol in a sample of 30 subjects, 15 basketball players and 15 healthy participants. Results: Findings of fascial thickness revealed statistically significant differences (p < 0.01) in epimysial fascia thickness and in deep/crural fascia thickness between levels/compartments of the same group and between two groups. Moreover, Post 3 deep/crural fascia thicknesses (p < 0.001) were decreased showing statistically significant difference for the basketball players group respect the healthy participants group. Conclusions: These findings suggested that the posterior compartment was thicker than anterior compartment, probably due to a postural reason in both groups. Moreover, they showed an increase of thickness of the epimysial fascia in basketball players with previous ankle sprains. This variability underlines the importance to assess the fasciae and to make results comparable. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Pre-Planned and Non-Planned Agility in Patients Ongoing Rehabilitation after Knee Surgery: Design, Reliability and Validity of the Newly Developed Testing Protocols
Diagnostics 2021, 11(1), 146; https://doi.org/10.3390/diagnostics11010146 - 19 Jan 2021
Viewed by 771
Abstract
Background: Due to its association with the risk of falling and consequent injury, the importance of agility is widely recognized, but no study so far has examined the different facets of agility in an untrained/clinical population. The aim of this study was to [...] Read more.
Background: Due to its association with the risk of falling and consequent injury, the importance of agility is widely recognized, but no study so far has examined the different facets of agility in an untrained/clinical population. The aim of this study was to evaluate the reliability, validity, and correlates of newly developed tests of non-planned agility (NPA) and pre-planned agility (PPA) in an untrained/clinical sample. Methods: The sample comprised 38 participants older than 40 years (22 females, age: 56.1 ± 17.3 years, height: 170.4 ± 10.8 cm, mass: 82.54 ± 14.79 kg) who were involved in a rehabilitation program following total knee arthroplasty and knee arthroscopy. Variables included age, gender, type of surgery, history of fall, anthropometrics/body composition, and newly developed tests of NPA and PPA. Results: The results showed the high inter-testing- (ICC > 0.95, CV < 9%), and intra-testing-reliability (ICC > 0.96, CV < 9) of the newly developed tests. PPA and NPA were found to be valid in differentiation between age groups (>50 yrs. vs. <50 yrs.), and genders, with better performance in younger participants and males. Only NPA differentiated participants according to type of surgery, with better performance in those who had arthroscopic surgery, than those who had total knee arthroplasty. No differences in NPA and PPA were established between groups based on fall-history. In females, the body mass (Pearson’s r = 0.58 and 0.59, p < 0.001) and body fatness (Pearson’s r = 0.64 and 0.66, p < 0.001) were negatively correlated, while the lean body mass (Pearson’s r = 0.70 and 0.68, p < 0.001) was positively correlated with PPA and NPA. The NPA and PPA were highly correlated (Pearson’s r = 0.98, p < 0.001). Conclusions: We found that the proposed tests are reliable when evaluating agility characteristics in an untrained/clinical population after knee arthroplasty/arthroscopy. Further evaluation of the specific validity of the proposed tests in other specific subsamples is warranted. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Manual Muscle Testing—Force Profiles and Their Reproducibility
Diagnostics 2020, 10(12), 996; https://doi.org/10.3390/diagnostics10120996 - 25 Nov 2020
Cited by 3 | Viewed by 1082
Abstract
The manual muscle test (MMT) is a flexible diagnostic tool, which is used in many disciplines, applied in several ways. The main problem is the subjectivity of the test. The MMT in the version of a “break test” depends on the tester’s force [...] Read more.
The manual muscle test (MMT) is a flexible diagnostic tool, which is used in many disciplines, applied in several ways. The main problem is the subjectivity of the test. The MMT in the version of a “break test” depends on the tester’s force rise and the patient’s ability to resist the applied force. As a first step, the investigation of the reproducibility of the testers’ force profile is required for valid application. The study examined the force profiles of n = 29 testers (n = 9 experiences (Exp), n = 8 little experienced (LitExp), n = 12 beginners (Beg)). The testers performed 10 MMTs according to the test of hip flexors, but against a fixed leg to exclude the patient’s reaction. A handheld device recorded the temporal course of the applied force. The results show significant differences between Exp and Beg concerning the starting force (padj = 0.029), the ratio of starting to maximum force (padj = 0.005) and the normalized mean Euclidean distances between the 10 trials (padj = 0.015). The slope is significantly higher in Exp vs. LitExp (p = 0.006) and Beg (p = 0.005). The results also indicate that experienced testers show inter-tester differences and partly even a low intra-tester reproducibility. This highlights the necessity of an objective MMT-assessment. Furthermore, an agreement on a standardized force profile is required. A suggestion for this is given. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Neurogenic vs. Myogenic Origin of Acquired Muscle Paralysis in Intensive Care Unit (ICU) Patients: Evaluation of Different Diagnostic Methods
Diagnostics 2020, 10(11), 966; https://doi.org/10.3390/diagnostics10110966 - 18 Nov 2020
Cited by 5 | Viewed by 618
Abstract
Introduction. The acquired muscle paralysis associated with modern critical care can be of neurogenic or myogenic origin, yet the distinction between these origins is hampered by the precision of current diagnostic methods. This has resulted in the pooling of all acquired muscle [...] Read more.
Introduction. The acquired muscle paralysis associated with modern critical care can be of neurogenic or myogenic origin, yet the distinction between these origins is hampered by the precision of current diagnostic methods. This has resulted in the pooling of all acquired muscle paralyses, independent of their origin, into the term Intensive Care Unit Acquired Muscle Weakness (ICUAW). This is unfortunate since the acquired neuropathy (critical illness polyneuropathy, CIP) has a slower recovery than the myopathy (critical illness myopathy, CIM); therapies need to target underlying mechanisms and every patient deserves as accurate a diagnosis as possible. This study aims at evaluating different diagnostic methods in the diagnosis of CIP and CIM in critically ill, immobilized and mechanically ventilated intensive care unit (ICU) patients. Methods. ICU patients with acquired quadriplegia in response to critical care were included in the study. A total of 142 patients were examined with routine electrophysiological methods, together with biochemical analyses of myosin:actin (M:A) ratios of muscle biopsies. In addition, comparisons of evoked electromyographic (EMG) responses in direct vs. indirect muscle stimulation and histopathological analyses of muscle biopsies were performed in a subset of the patients. Results. ICU patients with quadriplegia were stratified into five groups based on the hallmark of CIM, i.e., preferential myosin loss (myosin:actin ratio, M:A) and classified as severe (M:A < 0.5; n = 12), moderate (0.5 ≤ M:A < 1; n = 40), mildly moderate (1 ≤ M:A < 1.5; n = 49), mild (1.5 ≤ M:A < 1.7; n = 24) and normal (1.7 ≤ M:A; n = 19). Identical M:A ratios were obtained in the small (4–15 mg) muscle samples, using a disposable semiautomatic microbiopsy needle instrument, and the larger (>80 mg) samples, obtained with a conchotome instrument. Compound muscle action potential (CMAP) duration was increased and amplitude decreased in patients with preferential myosin loss, but deviations from this relationship were observed in numerous patients, resulting in only weak correlations between CMAP properties and M:A. Advanced electrophysiological methods measuring refractoriness and comparing CMAP amplitude after indirect nerve vs. direct muscle stimulation are time consuming and did not increase precision compared with conventional electrophysiological measurements in the diagnosis of CIM. Low CMAP amplitude upon indirect vs. direct stimulation strongly suggest a neurogenic lesion, i.e., CIP, but this was rarely observed among the patients in this study. Histopathological diagnosis of CIM/CIP based on enzyme histochemical mATPase stainings were hampered by poor quantitative precision of myosin loss and the impact of pathological findings unrelated to acute quadriplegia. Conclusion. Conventional electrophysiological methods are valuable in identifying the peripheral origin of quadriplegia in ICU patients, but do not reliably separate between neurogenic vs. myogenic origins of paralysis. The hallmark of CIM, preferential myosin loss, can be reliably evaluated in the small samples obtained with the microbiopsy instrument. The major advantage of this method is that it is less invasive than conventional muscle biopsies, reducing the risk of bleeding in ICU patients, who are frequently receiving anticoagulant treatment, and it can be repeated multiple times during follow up for monitoring purposes. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Quantitative Evaluation of the Echo Intensity of Paraneural Area and Myofascial Structure around Median Nerve in Carpal Tunnel Syndrome
Diagnostics 2020, 10(11), 914; https://doi.org/10.3390/diagnostics10110914 - 08 Nov 2020
Cited by 1 | Viewed by 701
Abstract
The aim of this study was to investigate whether the echo intensity (EI) of the paraneural area (PA), the median nerve (MN) at the carpal tunnel, the EI of the myofascial structure (MS) around MN, the ‘PA and MN’ at the mid-forearm, and [...] Read more.
The aim of this study was to investigate whether the echo intensity (EI) of the paraneural area (PA), the median nerve (MN) at the carpal tunnel, the EI of the myofascial structure (MS) around MN, the ‘PA and MN’ at the mid-forearm, and the MN transversal displacement at both sites differs between persons with carpal tunnel syndrome (CTS) and control subjects. Methods: In total, 16 CTS patients and 16 controls, age- and gender-matched, were recruited. Cross-sectional ultrasound images of MN were obtained to evaluate the EI of the PA, the MN at carpal tunnel, the EI of MS, and the ‘PA and MN’ at the mid-forearm in a natural position, then images were taken after a whole-hand grasp movement, to evaluate MN transversal displacement. Inter-rater and intra-rater reliability in control, and differences in the EI and MN displacement between CTS and control, were analyzed. In addition, the correlations between ultrasound parameters and MN displacement were evaluated. Results: The quantitative EI of PA, MN, EI of MS, ‘PA and MN’ had high inter-rater and intra-rater reliability in the control. The EI of PA, MS and ‘PA and MN’ were significantly higher in CTS subjects (p < 0.01), whilst there was no significant difference in the EI of MN at the carpal tunnel. MN displacement was significantly decreased both at the carpal tunnel and the mid-forearm in CTS subjects (p < 0.01). In addition, there were negative correlations among the EI of PA (rs = −0.484, p = 0.004), EI of MS (rs = −0.479, p = 0.002), EI of ‘PA and MN’ (rs = −0.605, p < 0.001) and MN transversal displacement. Conclusions: The higher EI of PA and MS around MN in CTS may indicate greater fibrosis along the course of MN, reducing fascial adaptability, influencing the synergy and coordination of the MS, and increasing the shear stress between MS and MN, and it may further increase the abnormal pressure on the MN not only at the carpal tunnel, but also at the mid-forearm. These results may partly explain the role of PA and MS in CTS pathogenesis. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Improving Prosthetic Selection and Predicting BMD from Biometric Measurements in Patients Receiving Total Hip Arthroplasty
Diagnostics 2020, 10(10), 815; https://doi.org/10.3390/diagnostics10100815 - 14 Oct 2020
Cited by 5 | Viewed by 1004
Abstract
There are two surgical approaches to performing total hip arthroplasty (THA): a cemented or uncemented type of prosthesis. The choice is usually based on the experience of the orthopaedic surgeon and on parameters such as the age and gender of the patient. Using [...] Read more.
There are two surgical approaches to performing total hip arthroplasty (THA): a cemented or uncemented type of prosthesis. The choice is usually based on the experience of the orthopaedic surgeon and on parameters such as the age and gender of the patient. Using machine learning (ML) techniques on quantitative biomechanical and bone quality data extracted from computed tomography, electromyography and gait analysis, the aim of this paper was, firstly, to help clinicians use patient-specific biomarkers from diagnostic exams in the prosthetic decision-making process. The second aim was to evaluate patient long-term outcomes by predicting the bone mineral density (BMD) of the proximal and distal parts of the femur using advanced image processing analysis techniques and ML. The ML analyses were performed on diagnostic patient data extracted from a national database of 51 THA patients using the Knime analytics platform. The classification analysis achieved 93% accuracy in choosing the type of prosthesis; the regression analysis on the BMD data showed a coefficient of determination of about 0.6. The start and stop of the electromyographic signals were identified as the best predictors. This study shows a patient-specific approach could be helpful in the decision-making process and provide clinicians with information regarding the follow up of patients. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy
Diagnostics 2020, 10(9), 713; https://doi.org/10.3390/diagnostics10090713 - 18 Sep 2020
Cited by 3 | Viewed by 909
Abstract
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by dystrophin gene mutations. The phenotype and evolution of this muscle disorder are extremely clinical variable. In the last years, circulating biomarkers have acquired remarkable importance in their use as noninvasive biological indicators [...] Read more.
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by dystrophin gene mutations. The phenotype and evolution of this muscle disorder are extremely clinical variable. In the last years, circulating biomarkers have acquired remarkable importance in their use as noninvasive biological indicators of prognosis and in monitoring muscle disease progression, especially when associated to muscle MRI imaging. We investigated the levels of circulating microRNAs (myo-miRNAs and inflammatory miRNAs) and of the proteins follistatin (FSTN) and myostatin (GDF-8) and compared results with clinical and radiological imaging data. In eight BMD patients, including two cases with evolving lower extremity weakness treated with deflazacort, we evaluated the expression level of 4 myo-miRNAs (miR-1, miR-206, miR-133a, and miR-133b), 3 inflammatory miRNAs (miR-146b, miR-155, and miR-221), FSTN, and GDF-8 proteins. In the two treated cases, there was pronounced posterior thigh and leg fibrofatty replacement assessed by muscle MRI by Mercuri score. The muscle-specific miR-206 was increased in all patients, and inflammatory miR-221 and miR-146b were variably elevated. A significant difference in myostatin expression was observed between steroid-treated and untreated patients. This study suggests that microRNAs and myostatin protein levels could be used to better understand the progression and management of the disease. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
“NO LOAD” Resistance Training Promotes High Levels of Knee Extensor Muscles Activation—A Pilot Study
Diagnostics 2020, 10(8), 526; https://doi.org/10.3390/diagnostics10080526 - 29 Jul 2020
Cited by 2 | Viewed by 746
Abstract
The present article aims to compare electromyographic (EMG) activity of the knee extensors during traditional resistance training (TRT) and no load resistance training with or without visual feedback (NL-VF and NL-NF). Sixteen healthy men (age: 25.2 ± 3.6) volunteered to participate in the [...] Read more.
The present article aims to compare electromyographic (EMG) activity of the knee extensors during traditional resistance training (TRT) and no load resistance training with or without visual feedback (NL-VF and NL-NF). Sixteen healthy men (age: 25.2 ± 3.6) volunteered to participate in the study. Participants visited the laboratory on three occasions involving: (1) a 10 repetition maximum test (10 RM test), (2) familiarization and (3) performance of knee extensions using TRT, NL-VF and NL-NF in a random order, with 10 min of rest between them. TRT involved the performance of a set to momentary muscle failure using the 10 RM load. NL-NF involved the performance of 10 repetitions with no external load, but with the intention to maximally contract the muscles during the whole set. NL-VF involved the same procedure as NL-NF, but a monitor was positioned in front of the participants to provide visual feedback on the EMG activity. Peak and mean EMG activity were evaluated on the vastus medialis (VM), vastus lateralis (VL) and rectus femoris (RF). Results: there were no significant differences in VM and VL peak EMG activity among different situations. There was a significant difference for peak EMG activity for RF, where TRT resulted in higher values than NL-VF and NL-NF (p < 0.05). Higher values of mean EMG activity were found for VM, VL and RF during TRT in comparison with both NL-VF and NL-NF. Conclusions: resistance training with no external load produced high levels of peak muscle activation, independent of visual feedback, but mean activation was higher during TRT. These results suggest that training with no external load might be used as a strategy for stimulating the knee extensors when there is limited access to specialized equipment. Although the clinical applications of no load resistance training are promising, it is important to perform long-term studies to test if these acute results will reflect in muscle morphological and functional changes. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Article
Anthropometric Measurements and Frailty in Patients with Liver Diseases
Diagnostics 2020, 10(6), 433; https://doi.org/10.3390/diagnostics10060433 - 25 Jun 2020
Cited by 3 | Viewed by 1023
Abstract
There have been scarce data regarding the relationship between frailty and anthropometry measurements (AMs) in patients with chronic liver diseases (CLDs). We aimed to elucidate the influence of AMs on frailty in CLDs (median age = 66 years, 183 men and 192 women). [...] Read more.
There have been scarce data regarding the relationship between frailty and anthropometry measurements (AMs) in patients with chronic liver diseases (CLDs). We aimed to elucidate the influence of AMs on frailty in CLDs (median age = 66 years, 183 men and 192 women). AMs included arm circumference, triceps skinfold thickness, calf circumference (CC), waist circumference, and body mass index. Frailty assessment was done by using five phenotypes (body weight loss, exhaustion, decreased muscle strength, slow walking speed, and low physical activity). Robust (frailty point 0), prefrail (frailty point 1 or 2), and frailty (frailty point 3 or more) were observed in 63 (34.4%), 98 (53.6%), and 22 (12.0%) of males, respectively, and 63 (32.8%), 101 (52.6%), and 28 (14.6%) of females, respectively. In receiver operating characteristics (ROC) curve analyses for the presence of frailty, CC had the highest area under the ROC (AUC) both in male (AUC = 0.693, cutoff point = 33.7 cm) and female (AUC = 0.734, cutoff point = 33.4 cm) participants. In the multivariate analysis associated with frailty, for the male participants, only the presence of liver cirrhosis (p = 0.0433) was identified to be significant, while among the female participants, serum albumin (p = 0.0444) and CC (p = 0.0010) were identified to be significant. In conclusion, CC can be helpful for predicting frailty, especially in female CLD patients. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Review

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Review
A Pound of Flesh: What Cachexia Is and What It Is Not
Diagnostics 2021, 11(1), 116; https://doi.org/10.3390/diagnostics11010116 - 12 Jan 2021
Cited by 2 | Viewed by 1277
Abstract
Body weight loss, mostly due to the wasting of skeletal muscle and adipose tissue, is the hallmark of the so-called cachexia syndrome. Cachexia is associated with several acute and chronic disease states such as cancer, chronic obstructive pulmonary disease (COPD), heart and kidney [...] Read more.
Body weight loss, mostly due to the wasting of skeletal muscle and adipose tissue, is the hallmark of the so-called cachexia syndrome. Cachexia is associated with several acute and chronic disease states such as cancer, chronic obstructive pulmonary disease (COPD), heart and kidney failure, and acquired and autoimmune diseases and also pharmacological treatments such as chemotherapy. The clinical relevance of cachexia and its impact on patients’ quality of life has been neglected for decades. Only recently did the international community agree upon a definition of the term cachexia, and we are still awaiting the standardization of markers and tests for the diagnosis and staging of cancer-related cachexia. In this review, we discuss cachexia, considering the evolving use of the term for diagnostic purposes and the implications it has for clinical biomarkers, to provide a comprehensive overview of its biology and clinical management. Advances and tools developed so far for the in vitro testing of cachexia and drug screening will be described. We will also evaluate the nomenclature of different forms of muscle wasting and degeneration and discuss features that distinguish cachexia from other forms of muscle wasting in the context of different conditions. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Review
Brain and Muscle: How Central Nervous System Disorders Can Modify the Skeletal Muscle
Diagnostics 2020, 10(12), 1047; https://doi.org/10.3390/diagnostics10121047 - 04 Dec 2020
Viewed by 592
Abstract
It is widely known that nervous and muscular systems work together and that they are strictly dependent in their structure and functions. Consequently, muscles undergo macro and microscopic changes with subsequent alterations after a central nervous system (CNS) disease. Despite this, only a [...] Read more.
It is widely known that nervous and muscular systems work together and that they are strictly dependent in their structure and functions. Consequently, muscles undergo macro and microscopic changes with subsequent alterations after a central nervous system (CNS) disease. Despite this, only a few researchers have addressed the problem of skeletal muscle abnormalities following CNS diseases. The purpose of this review is to summarize the current knowledge on the potential mechanisms responsible for changes in skeletal muscle of patients suffering from some of the most common CSN disorders (Stroke, Multiple Sclerosis, Parkinson’s disease). With this purpose, we analyzed the studies published in the last decade. The published studies show an extreme heterogeneity of the assessment modality and examined population. Furthermore, it is evident that thanks to different evaluation methodologies, it is now possible to implement knowledge on muscle morphology, for a long time limited by the requirement of muscle biopsies. This could be the first step to amplify studies aimed to analyze muscle characteristics in CNS disease and developing rehabilitation protocols to prevent and treat the muscle, often neglected in CNS disease. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
Review
Diagnostic Balance Tests for Assessing Risk of Falls and Distinguishing Older Adult Fallers and Non-Fallers: A Systematic Review with Meta-Analysis
Diagnostics 2020, 10(9), 667; https://doi.org/10.3390/diagnostics10090667 - 03 Sep 2020
Cited by 5 | Viewed by 1333
Abstract
Falls are a major cause of injury and morbidity in older adults. To reduce the incidence of falls, a systematic assessment of the risk of falling is of paramount importance. The purpose of this systematic review was to provide a comprehensive comparison of [...] Read more.
Falls are a major cause of injury and morbidity in older adults. To reduce the incidence of falls, a systematic assessment of the risk of falling is of paramount importance. The purpose of this systematic review was to provide a comprehensive comparison of the diagnostic balance tests used to predict falls and for distinguishing older adults with and without a history of falls. We conducted a systematic review of the studies in which instrumented (force plate body sway assessment) or other non-instrumented balance tests were used. We analyzed the data from 19 prospective and 48 retrospective/case-control studies. Among the non-instrumented tests, the single-leg stance test appears to be the most promising for discrimination between fallers and non-fallers. In terms of body sway measures, the center-of-pressure area was most consistently associated with falls. No evidence was found for increased benefit of the body sway test when cognitive tasks were added, or the vision was eliminated. While our analyses are limited due to the unbalanced representation of different test and outcome measures across studies, we can recommend the single-leg test for the assessment of the risk of falling, and the measurements of body sway for a more comprehensive assessment. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Review
Home-Based Functional Electrical Stimulation of Human Permanent Denervated Muscles: A Narrative Review on Diagnostics, Managements, Results and Byproducts Revisited 2020
Diagnostics 2020, 10(8), 529; https://doi.org/10.3390/diagnostics10080529 - 29 Jul 2020
Cited by 8 | Viewed by 888
Abstract
Spinal cord injury (SCI) produces muscle wasting that is especially severe after complete and permanent damage of lower motor neurons, as can occur in complete conus and cauda equina syndrome. Even in this worst-case scenario, mass and function of permanently denervated quadriceps muscle [...] Read more.
Spinal cord injury (SCI) produces muscle wasting that is especially severe after complete and permanent damage of lower motor neurons, as can occur in complete conus and cauda equina syndrome. Even in this worst-case scenario, mass and function of permanently denervated quadriceps muscle can be rescued by surface functional electrical stimulation using a purpose designed home-based rehabilitation strategy. Early diagnostics is a key factor in the long-term success of this management. Function of quadriceps muscle was quantitated by force measurements. Muscle gross cross-sections were evaluated by quantitative color computed tomography (CT) and muscle and skin biopsies by quantitative histology, electron microscopy, and immunohistochemistry. Two years of treatment that started earlier than 5 years from SCI produced: (a) an increase in cross-sectional area of stimulated muscles; (b) an increase in muscle fiber mean diameter; (c) improvements in ultrastructural organization; and (d) increased force output during electrical stimulation. Improvements are extended to hamstring muscles and skin. Indeed, the cushioning effect provided by recovered tissues is a major clinical benefit. It is our hope that new trials start soon, providing patients the benefits they need. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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Case Report
Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family
Diagnostics 2020, 10(10), 741; https://doi.org/10.3390/diagnostics10100741 - 24 Sep 2020
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Abstract
Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for obtaining [...] Read more.
Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for obtaining a precise diagnosis without the need for immunohistochemistry. WES was performed in the two siblings and their parents, followed by prioritization of variants and validation by Sanger sequencing. Very rare variants with moderate to high predicted impact in genes associated with neuromuscular disorders were selected. We identified two pathogenic missense variants, c.778C>T (p.H260Y) and c.2987G>A (p.C996Y), in the LAMA2 gene (NM_000426.3), in the homozygous state in two siblings, and in the heterozygous state in their unaffected parents, which were confirmed by Sanger sequencing. Variant c.2987G>A has not been reported previously. These variants may lead to a change in the structure and function of laminin-α2, a member of the family of laminin-211, which is an extracellular matrix protein that functions to stabilize the basement membrane of muscle fibers during contractions. Overall, WES enabled an accurate diagnosis of both patients with LAMA2-related muscular dystrophy and expanded the spectrum of missense variants in LAMA2. Full article
(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)
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