Diagnostics

Research

18 pages, 3284 KiB

Open AccessArticle

The ERG1A K⁺ Channel Is More Abundant in Rectus abdominis Muscle from Cancer Patients Than that from Healthy Humans

by Sandra Zampieri, Marco Sandri, Joseph L. Cheatwood, Rajesh P. Balaraman, Luke B. Anderson, Brittan A. Cobb, Chase D. Latour, Gregory H. Hockerman, Helmut Kern, Roberta Sartori, Barbara Ravara, Stefano Merigliano, Gianfranco Da Dalt, Judith K. Davie, Punit Kohli and Amber L. Pond

Diagnostics 2021, 11(10), 1879; https://doi.org/10.3390/diagnostics11101879 - 12 Oct 2021

Cited by 2 | Viewed by 1735

Abstract

Background: The potassium channel encoded by the ether-a-gogo-related gene 1A (erg1a) has been detected in the atrophying skeletal muscle of mice experiencing either muscle disuse or cancer cachexia and further evidenced to contribute to muscle deterioration by enhancing ubiquitin proteolysis; however, [...] Read more.

Background: The potassium channel encoded by the ether-a-gogo-related gene 1A (erg1a) has been detected in the atrophying skeletal muscle of mice experiencing either muscle disuse or cancer cachexia and further evidenced to contribute to muscle deterioration by enhancing ubiquitin proteolysis; however, to our knowledge, ERG1A has not been reported in human skeletal muscle. Methods and Results: Here, using immunohistochemistry, we detect ERG1A immunofluorescence in human Rectus abdominis skeletal muscle sarcolemma. Further, using single point brightness data, we report the detection of ERG1A immunofluorescence at low levels in the Rectus abdominis muscle sarcolemma of young adult humans and show that it trends toward greater levels (10.6%) in healthy aged adults. Interestingly, we detect ERG1A immunofluorescence at a statistically greater level (53.6%; p < 0.05) in the skeletal muscle of older cancer patients than in age-matched healthy adults. Importantly, using immunoblot, we reveal that lower mass ERG1A protein is 61.5% (p < 0.05) more abundant in the skeletal muscle of cachectic older adults than in healthy age-matched controls. Additionally, we report that the ERG1A protein is detected in a cultured human rhabdomyosarcoma line that may be a good in vitro model for the study of ERG1A in muscle. Conclusions: The data demonstrate that ERG1A is detected more abundantly in the atrophied skeletal muscle of cancer patients, suggesting it may be related to muscle loss in humans as it has been shown to be in mice experiencing muscle atrophy as a result of malignant tumors. Full article

(This article belongs to the Special Issue Skeletal Muscle Diagnostics and Managements)

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13 pages, 3965 KiB

Open AccessArticle

Selective Surface Electrostimulation of the Denervated Zygomaticus Muscle

by Dirk Arnold, Jovanna Thielker, Carsten M. Klingner, Wiebke Caren Puls, Wengelawit Misikire, Orlando Guntinas-Lichius and Gerd Fabian Volk

Diagnostics 2021, 11(2), 188; https://doi.org/10.3390/diagnostics11020188 - 28 Jan 2021

Cited by 12 | Viewed by 3333

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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12 pages, 5036 KiB

Open AccessArticle

Ultrasound Imaging of Crural Fascia and Epimysial Fascia Thicknesses in Basketball Players with Previous Ankle Sprains Versus Healthy Subjects

by Carmelo Pirri, Caterina Fede, Antonio Stecco, Diego Guidolin, Chenglei Fan, Raffaele De Caro and Carla Stecco

Diagnostics 2021, 11(2), 177; https://doi.org/10.3390/diagnostics11020177 - 26 Jan 2021

Cited by 13 | Viewed by 3294

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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15 pages, 719 KiB

Open AccessArticle

Pre-Planned and Non-Planned Agility in Patients Ongoing Rehabilitation after Knee Surgery: Design, Reliability and Validity of the Newly Developed Testing Protocols

by Ivan Peric, Miodrag Spasic, Dario Novak, Sergej Ostojic and Damir Sekulic

Diagnostics 2021, 11(1), 146; https://doi.org/10.3390/diagnostics11010146 - 19 Jan 2021

Cited by 2 | Viewed by 2791

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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30 pages, 6810 KiB

Open AccessArticle

Manual Muscle Testing—Force Profiles and Their Reproducibility

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

Diagnostics 2020, 10(12), 996; https://doi.org/10.3390/diagnostics10120996 - 25 Nov 2020

Cited by 25 | Viewed by 6669

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 (p_adj = 0.029), the ratio of starting to maximum force (p_adj = 0.005) and the normalized mean Euclidean distances between the 10 trials (p_adj = 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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19 pages, 3601 KiB

Open AccessArticle

Neurogenic vs. Myogenic Origin of Acquired Muscle Paralysis in Intensive Care Unit (ICU) Patients: Evaluation of Different Diagnostic Methods

by Humberto D.J. Gonzalez Marrero, Erik V. Stålberg, Gerald Cooray, Rebeca Corpeno Kalamgi, Yvette Hedström, Bo-Michael Bellander, Inger Nennesmo and Lars Larsson

Diagnostics 2020, 10(11), 966; https://doi.org/10.3390/diagnostics10110966 - 18 Nov 2020

Cited by 11 | Viewed by 2702

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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11 pages, 2659 KiB

Open AccessArticle

Quantitative Evaluation of the Echo Intensity of Paraneural Area and Myofascial Structure around Median Nerve in Carpal Tunnel Syndrome

by Chenglei Fan, Caterina Fede, Carmelo Pirri, Diego Guidolin, Carlo Biz, Veronica Macchi, Raffaele De Caro and Carla Stecco

Diagnostics 2020, 10(11), 914; https://doi.org/10.3390/diagnostics10110914 - 08 Nov 2020

Cited by 8 | Viewed by 2274

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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13 pages, 1720 KiB

Open AccessArticle

Improving Prosthetic Selection and Predicting BMD from Biometric Measurements in Patients Receiving Total Hip Arthroplasty

by Carlo Ricciardi, Halldór Jónsson, Jr., Deborah Jacob, Giovanni Improta, Marco Recenti, Magnús Kjartan Gíslason, Giuseppe Cesarelli, Luca Esposito, Vincenzo Minutolo, Paolo Bifulco and Paolo Gargiulo

Diagnostics 2020, 10(10), 815; https://doi.org/10.3390/diagnostics10100815 - 14 Oct 2020

Cited by 25 | Viewed by 3627

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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11 pages, 1621 KiB

Open AccessArticle

MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

by Roberta Marozzo, Valentina Pegoraro and Corrado Angelini

Diagnostics 2020, 10(9), 713; https://doi.org/10.3390/diagnostics10090713 - 18 Sep 2020

Cited by 14 | Viewed by 2962

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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10 pages, 1529 KiB

Open AccessArticle

“NO LOAD” Resistance Training Promotes High Levels of Knee Extensor Muscles Activation—A Pilot Study

by Rafael Ribeiro Alves, Carlos Alexandre Vieira, Martim Bottaro, Murilo Augusto Soares de Araújo, Daniel Costa Souza, Bruno Cavalcante Gomes and Paulo Gentil

Diagnostics 2020, 10(8), 526; https://doi.org/10.3390/diagnostics10080526 - 29 Jul 2020

Cited by 4 | Viewed by 2543

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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12 pages, 970 KiB

Open AccessArticle

Anthropometric Measurements and Frailty in Patients with Liver Diseases

by Hiroki Nishikawa, Kazunori Yoh, Hirayuki Enomoto, Naoto Ikeda, Nobuhiro Aizawa, Takashi Koriyama, Takashi Nishimura, Shuhei Nishiguchi and Hiroko Iijima

Diagnostics 2020, 10(6), 433; https://doi.org/10.3390/diagnostics10060433 - 25 Jun 2020

Cited by 9 | Viewed by 2674

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

Jump to: Research, Other

19 pages, 814 KiB

Open AccessReview

A Pound of Flesh: What Cachexia Is and What It Is Not

by Emanuele Berardi, Luca Madaro, Biliana Lozanoska-Ochser, Sergio Adamo, Lieven Thorrez, Marina Bouche and Dario Coletti

Diagnostics 2021, 11(1), 116; https://doi.org/10.3390/diagnostics11010116 - 12 Jan 2021

Cited by 21 | Viewed by 8604

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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16 pages, 235 KiB

Open AccessReview

Brain and Muscle: How Central Nervous System Disorders Can Modify the Skeletal Muscle

by Stefania Dalise, Valentina Azzollini and Carmelo Chisari

Diagnostics 2020, 10(12), 1047; https://doi.org/10.3390/diagnostics10121047 - 04 Dec 2020

Cited by 12 | Viewed by 2814

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)

16 pages, 477 KiB

Open AccessReview

Diagnostic Balance Tests for Assessing Risk of Falls and Distinguishing Older Adult Fallers and Non-Fallers: A Systematic Review with Meta-Analysis

by Žiga Kozinc, Stefan Löfler, Christian Hofer, Ugo Carraro and Nejc Šarabon

Diagnostics 2020, 10(9), 667; https://doi.org/10.3390/diagnostics10090667 - 03 Sep 2020

Cited by 32 | Viewed by 6127

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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14 pages, 2175 KiB

Open AccessReview

Home-Based Functional Electrical Stimulation of Human Permanent Denervated Muscles: A Narrative Review on Diagnostics, Managements, Results and Byproducts Revisited 2020

by Helmut Kern and Ugo Carraro

Diagnostics 2020, 10(8), 529; https://doi.org/10.3390/diagnostics10080529 - 29 Jul 2020

Cited by 24 | Viewed by 3235

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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14 pages, 9024 KiB

Open AccessCase Report

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family

by Ngoc-Lan Nguyen, Can Thi Bich Ngoc, Chi Dung Vu, Thi Thu Huong Nguyen and Huy Hoang Nguyen

Diagnostics 2020, 10(10), 741; https://doi.org/10.3390/diagnostics10100741 - 24 Sep 2020

Cited by 2 | Viewed by 2860

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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