Marco Orsini, W. B. Pinto, Paulo Sgobbi, A. S. B. Oliveira
A 72-year-old Brazilian woman presented with a 4-year history of rest tremors of the hands, followed by slowness of movement, and a diagnosis of idiopathic Parkinson’s disease. She was started on dopamine agonists with significant improvement. After three years, she complained about slowly progressive dysphagia, dysphonia, quadriparesis, and cramps and fasciculations. A neurological examination disclosed distal-dominant quadriparesis, dysarthria, atrophy and fasciculation of the tongue, global brisk tendon reflexes, fasciculations, bilateral ankle clonus, and moderate spasticity of the lower limbs. She had also palpitations, dyspnea, and one episode of paroxysmal atrial fibrillation. Electrocardiography revealed a short PR interval, a widened QRS complex, and the delta wave, suggestive of Wolff–Parkinson–White syndrome. Brain and spine MR imaging, a cerebrospinal fluid analysis, and general serum lab exams were unremarkable. Needle electromyography disclosed chronic denervation involving cervical, thoracic, lumbosacral, and bulbar levels associated with acute denervation, including positive sharp waves, fasciculations, and fibrillation potentials. This patient fulfilled the diagnostic criteria for amyotrophic lateral sclerosis associated with parkinsonism. A broad next-generation sequencing-based panel disclosed the presence of the novel heterozygous variant c.1247C > T (p.Pro416Leu) in the PRKAG2 gene (NM_016203.4). Clinicians must be aware of the possibility of PRKAG2 variants in complex clinical scenarios associating cardiac arrhythmia, preexcitation syndromes, hypertrophic cardiomyopathy, motor neuron disease, and parkinsonism.
{"title":"PRKAG2 Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism?","authors":"Marco Orsini, W. B. Pinto, Paulo Sgobbi, A. S. B. Oliveira","doi":"10.3390/muscles3030021","DOIUrl":"https://doi.org/10.3390/muscles3030021","url":null,"abstract":"A 72-year-old Brazilian woman presented with a 4-year history of rest tremors of the hands, followed by slowness of movement, and a diagnosis of idiopathic Parkinson’s disease. She was started on dopamine agonists with significant improvement. After three years, she complained about slowly progressive dysphagia, dysphonia, quadriparesis, and cramps and fasciculations. A neurological examination disclosed distal-dominant quadriparesis, dysarthria, atrophy and fasciculation of the tongue, global brisk tendon reflexes, fasciculations, bilateral ankle clonus, and moderate spasticity of the lower limbs. She had also palpitations, dyspnea, and one episode of paroxysmal atrial fibrillation. Electrocardiography revealed a short PR interval, a widened QRS complex, and the delta wave, suggestive of Wolff–Parkinson–White syndrome. Brain and spine MR imaging, a cerebrospinal fluid analysis, and general serum lab exams were unremarkable. Needle electromyography disclosed chronic denervation involving cervical, thoracic, lumbosacral, and bulbar levels associated with acute denervation, including positive sharp waves, fasciculations, and fibrillation potentials. This patient fulfilled the diagnostic criteria for amyotrophic lateral sclerosis associated with parkinsonism. A broad next-generation sequencing-based panel disclosed the presence of the novel heterozygous variant c.1247C > T (p.Pro416Leu) in the PRKAG2 gene (NM_016203.4). Clinicians must be aware of the possibility of PRKAG2 variants in complex clinical scenarios associating cardiac arrhythmia, preexcitation syndromes, hypertrophic cardiomyopathy, motor neuron disease, and parkinsonism.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"52 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141805755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jinho Park, T. B. Symons, Eun Hye Kwon, Eunhee Chung, Sukho Lee
The prevalence of skeletal muscle atrophy, caused by disease and aging, is rising as life expectancy increases. Exercise is the most effective treatment option; however, it is often impractical for individuals suffering from disease or bedridden. The formulation of non-exercise-based interventions is necessary. This study assessed the impact of acupuncture (AC), electro-acupuncture (EA), and electrical stimulation (ES) on muscle mass and contractile properties in a model of casting-induced muscle atrophy. Sprague-Dawley rats (n = 40) were assigned to five groups: control (CON), cast (CT), cast receiving AC (CT-AC), cast receiving EA (CT-EA), and cast receiving ES (CT-ES) (n = 8 each). Treatments were 15 min and three times/week for 14 days. Contractile properties and protein markers of atrophy and inflammation were measured. Casting decreased muscle mass and fiber cross-sectional area, but AC, EA, and ES attenuated cast-induced muscle atrophy. All treatments increased peak twitch tension compared to CT. CT increased the protein levels of MAFbx and MuRF1, while AC, EA, and ES mitigated the elevation of these proteins. Our results indicate that acupuncture, electro-acupuncture, and electrical stimulation show promise as therapeutic strategies to counteract skeletal muscle loss and dysfunction resulting from disuse atrophy caused by injury, disease, and aging.
随着预期寿命的延长，由疾病和衰老引起的骨骼肌萎缩的发病率正在上升。运动是最有效的治疗方法，但对于疾病缠身或卧床不起的人来说，运动往往是不切实际的。因此，有必要制定不以运动为基础的干预措施。本研究评估了针灸（AC）、电针（EA）和电刺激（ES）对铸造引起的肌肉萎缩模型中肌肉质量和收缩特性的影响。将 Sprague-Dawley 大鼠（n = 40）分为五组：对照组（CON）、石膏组（CT）、接受 AC 的石膏组（CT-AC）、接受 EA 的石膏组（CT-EA）和接受 ES 的石膏组（CT-ES）（每组 n = 8）。治疗时间为 15 分钟，每周三次，共 14 天。对收缩特性以及萎缩和炎症的蛋白质标记物进行了测量。铸造减少了肌肉质量和纤维横截面积，但 AC、EA 和 ES 减轻了铸造引起的肌肉萎缩。与 CT 相比，所有治疗方法都能提高抽搐张力峰值。CT 增加了 MAFbx 和 MuRF1 的蛋白水平，而 AC、EA 和 ES 则缓解了这些蛋白水平的升高。我们的研究结果表明，针灸、电针和电刺激有望成为一种治疗策略，用于对抗因损伤、疾病和衰老引起的废用性萎缩所导致的骨骼肌损失和功能障碍。
{"title":"Alternative Treatments to Exercise for the Attenuation of Disuse-Induced Skeletal Muscle Atrophy in Rats","authors":"Jinho Park, T. B. Symons, Eun Hye Kwon, Eunhee Chung, Sukho Lee","doi":"10.3390/muscles3030020","DOIUrl":"https://doi.org/10.3390/muscles3030020","url":null,"abstract":"The prevalence of skeletal muscle atrophy, caused by disease and aging, is rising as life expectancy increases. Exercise is the most effective treatment option; however, it is often impractical for individuals suffering from disease or bedridden. The formulation of non-exercise-based interventions is necessary. This study assessed the impact of acupuncture (AC), electro-acupuncture (EA), and electrical stimulation (ES) on muscle mass and contractile properties in a model of casting-induced muscle atrophy. Sprague-Dawley rats (n = 40) were assigned to five groups: control (CON), cast (CT), cast receiving AC (CT-AC), cast receiving EA (CT-EA), and cast receiving ES (CT-ES) (n = 8 each). Treatments were 15 min and three times/week for 14 days. Contractile properties and protein markers of atrophy and inflammation were measured. Casting decreased muscle mass and fiber cross-sectional area, but AC, EA, and ES attenuated cast-induced muscle atrophy. All treatments increased peak twitch tension compared to CT. CT increased the protein levels of MAFbx and MuRF1, while AC, EA, and ES mitigated the elevation of these proteins. Our results indicate that acupuncture, electro-acupuncture, and electrical stimulation show promise as therapeutic strategies to counteract skeletal muscle loss and dysfunction resulting from disuse atrophy caused by injury, disease, and aging.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"2 25","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141816269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gustavo A Zanoli, Isabel Albarova-Corral, Michele Ancona, Ignazio Grattagliano, Thilo Hotfiel, G. Iolascon, Karsten Krüger, Guillermo Rodríguez Maruri
Background: Musculoskeletal pain is a non-negligible multifaceted condition affecting more than 30% of the global population. Superficial heat therapy (HT), through increasing tissue temperatures, plays a role in increasing local metabolism and function and relieving pain. Knee (KP) and sports pain represent two relevant fields of superficial HT application. Methods: In the present paper, a panel of experts performed a narrative review of the literature regarding the role of superficial HT in the management of knee and sports activity-related pain. Results: According to the reviewed literature, HT represents a therapeutic option in the management of musculoskeletal pain due to three main effects: pain relief, promotion of healing, and return to normal function and activity. Moreover, HT plays a role in sport activities both before and after exercise. Before performing sports, HT helps in preparing muscles for performance. After performing sports, it is capable to promote recovery and healing pathways. Combining and sequencing superficial heat and cold therapy represent an interesting topic of study. Overall, the application of heat wraps for superficial HT can be considered safe. Conclusions: HT has been shown to be a potentially beneficial and safe option in the management of several conditions including KP and sports. The key in the application of superficial HT is a multimodal and multidisciplinary approach.
{"title":"Current Indications and Future Direction in Heat Therapy for Musculoskeletal Pain: A Narrative Review","authors":"Gustavo A Zanoli, Isabel Albarova-Corral, Michele Ancona, Ignazio Grattagliano, Thilo Hotfiel, G. Iolascon, Karsten Krüger, Guillermo Rodríguez Maruri","doi":"10.3390/muscles3030019","DOIUrl":"https://doi.org/10.3390/muscles3030019","url":null,"abstract":"Background: Musculoskeletal pain is a non-negligible multifaceted condition affecting more than 30% of the global population. Superficial heat therapy (HT), through increasing tissue temperatures, plays a role in increasing local metabolism and function and relieving pain. Knee (KP) and sports pain represent two relevant fields of superficial HT application. Methods: In the present paper, a panel of experts performed a narrative review of the literature regarding the role of superficial HT in the management of knee and sports activity-related pain. Results: According to the reviewed literature, HT represents a therapeutic option in the management of musculoskeletal pain due to three main effects: pain relief, promotion of healing, and return to normal function and activity. Moreover, HT plays a role in sport activities both before and after exercise. Before performing sports, HT helps in preparing muscles for performance. After performing sports, it is capable to promote recovery and healing pathways. Combining and sequencing superficial heat and cold therapy represent an interesting topic of study. Overall, the application of heat wraps for superficial HT can be considered safe. Conclusions: HT has been shown to be a potentially beneficial and safe option in the management of several conditions including KP and sports. The key in the application of superficial HT is a multimodal and multidisciplinary approach.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"4 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141641505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dean M. Cordingley, Judy E. Anderson, Stephen M. Cornish
Myokines released by exercise are identified as factors that can influence a person’s health and wellbeing. While myokine secretion in response to an acute bout of endurance and resistance-type exercise has been examined, the influence of resistance-exercise training on myokines at rest is less well established. Therefore, this study was designed to evaluate a panel of myokines at rest following a 12-week resistance-exercise training program in younger and older males. Participants (n = 15) completed a 12-week progressive resistance-exercise training program supervised by a certified fitness professional. The training protocol targeted all major muscle groups of the upper and lower body. Resting blood samples were collected before and after completion of the training program to determine concentrations of apelin, fibroblast growth factor-21 (FGF-21), interleukin (IL)-4, IL-6, IL-7, IL-15, leukemia inhibitory factor (LIF), and irisin. Two-way repeated ANOVAs were used to compare variables between time-points and age groups. There was a main effect of time found for apelin (p = 0.003) and IL-15 (p < 0.001), while no main effects for group or time were found for the other myokines (all p > 0.05). Age group × training status interactions were found for IL-6 (p = 0.04) and irisin (p = 0.014) without pairwise differences for IL-6 (p > 0.05), and younger males had higher concentrations of irisin compared to older males post-training (p = 0.036). Overall, the 12-week resistance-exercise training program significantly increased apelin and IL-15 over time but did not change the other resting myokine concentrations for the younger or older males. However, the higher concentration of irisin in younger versus older males post-training suggests a potential explanation for the anabolic resistance observed with aging.
{"title":"Resting Systemic Irisin Concentrations Are Lower in Older versus Younger Males after 12 Weeks of Resistance-Exercise Training While Apelin and IL-15 Concentrations Were Increased in the Whole Cohort","authors":"Dean M. Cordingley, Judy E. Anderson, Stephen M. Cornish","doi":"10.3390/muscles3030018","DOIUrl":"https://doi.org/10.3390/muscles3030018","url":null,"abstract":"Myokines released by exercise are identified as factors that can influence a person’s health and wellbeing. While myokine secretion in response to an acute bout of endurance and resistance-type exercise has been examined, the influence of resistance-exercise training on myokines at rest is less well established. Therefore, this study was designed to evaluate a panel of myokines at rest following a 12-week resistance-exercise training program in younger and older males. Participants (n = 15) completed a 12-week progressive resistance-exercise training program supervised by a certified fitness professional. The training protocol targeted all major muscle groups of the upper and lower body. Resting blood samples were collected before and after completion of the training program to determine concentrations of apelin, fibroblast growth factor-21 (FGF-21), interleukin (IL)-4, IL-6, IL-7, IL-15, leukemia inhibitory factor (LIF), and irisin. Two-way repeated ANOVAs were used to compare variables between time-points and age groups. There was a main effect of time found for apelin (p = 0.003) and IL-15 (p < 0.001), while no main effects for group or time were found for the other myokines (all p > 0.05). Age group × training status interactions were found for IL-6 (p = 0.04) and irisin (p = 0.014) without pairwise differences for IL-6 (p > 0.05), and younger males had higher concentrations of irisin compared to older males post-training (p = 0.036). Overall, the 12-week resistance-exercise training program significantly increased apelin and IL-15 over time but did not change the other resting myokine concentrations for the younger or older males. However, the higher concentration of irisin in younger versus older males post-training suggests a potential explanation for the anabolic resistance observed with aging.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"327 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141691777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Measuring the bicep femoris long head fascicle length via the use of diagnostic ultrasound has become common practice within elite sport, using single images of between 4 and 6 cm. No study to date has compared single image estimations in terms of the varying fields of view (i.e., 4, 6, and 10 cm). Therefore, the aim of this study was to determine whether differences occur when estimating the bicep femoris long head fascicle length using short (4 cm), medium (6 cm), and long (10 cm) fields of view across three estimation equations. A total of 36 male athletes (age: 23.8 ± 3.8 years, body mass: 83.7 ± 14.0 kg, height: 1.81 ± 0.06 m) had three ultrasound images of the bicep femoris long head collected on a single occasion with the fascicle length estimated. A significant main effect was observed (p < 0.001) with moderate–very large differences (p < 0.078, d = 0.91–4.01). The smallest fields of view resulted in the greatest fascicle length. There were significant moderate–large associations between the fields of view (p < 0.001, r = 0.542–0.892). Unacceptable limits of agreement were observed, and the developed correction equations remained unacceptable. The partial measure equation is the most accurate whilst using the 10 cm fields of view, while the basic trigonometry equation had the lowest variability between fields of view and the smallest differences between fields of view; hence, this equation may be more appropriate when a <6 cm field of view is the only field of view available.
{"title":"Comparison between Short, Medium, and Long Fields of View in Estimating Bicep Femoris Fascicle Length","authors":"N. Ripley, P. Comfort, J. McMahon","doi":"10.3390/muscles3020014","DOIUrl":"https://doi.org/10.3390/muscles3020014","url":null,"abstract":"Measuring the bicep femoris long head fascicle length via the use of diagnostic ultrasound has become common practice within elite sport, using single images of between 4 and 6 cm. No study to date has compared single image estimations in terms of the varying fields of view (i.e., 4, 6, and 10 cm). Therefore, the aim of this study was to determine whether differences occur when estimating the bicep femoris long head fascicle length using short (4 cm), medium (6 cm), and long (10 cm) fields of view across three estimation equations. A total of 36 male athletes (age: 23.8 ± 3.8 years, body mass: 83.7 ± 14.0 kg, height: 1.81 ± 0.06 m) had three ultrasound images of the bicep femoris long head collected on a single occasion with the fascicle length estimated. A significant main effect was observed (p < 0.001) with moderate–very large differences (p < 0.078, d = 0.91–4.01). The smallest fields of view resulted in the greatest fascicle length. There were significant moderate–large associations between the fields of view (p < 0.001, r = 0.542–0.892). Unacceptable limits of agreement were observed, and the developed correction equations remained unacceptable. The partial measure equation is the most accurate whilst using the 10 cm fields of view, while the basic trigonometry equation had the lowest variability between fields of view and the smallest differences between fields of view; hence, this equation may be more appropriate when a <6 cm field of view is the only field of view available.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"9 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141101210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Nasr, Joshua Harris, Jijia Wang, Michael Khazzam, Nitin B. Jain, Yi-Ting Tzen, Yen-Sheng Lin
Fatty infiltration of the rotator cuff muscles is very common following rotator cuff tears and is one of the most important factors in determining treatment. Current clinical practice relies on subjective evaluation of fatty infiltration through categorical scoring based on the Goutallier classification system. The Dixon magnetic resonance imaging (MRI) sequence provides flexibility in selecting echo times for water–fat separation. The Dixon method, therefore, has the potential to provide robust and high-quality fat quantification that allows for more accurate calculation of fat fraction (%Fat) of the rotator cuff muscles than the Goutallier classification system. However, significant variance exists in sequencing and post-processing methodology within the recent application of Dixon sequences to quantify rotator cuff fatty infiltration. In this paper, we conducted a systematic review to synthesize the relevant literature utilizing Dixon sequencing for the quantification of rotator cuff fatty infiltration. The literature search was extracted from 1094 articles, with 12 studies included in the final review. Regardless of the varying sequencing pattern and post-processing techniques among studies, the findings suggest the Dixon method is reliable for quantitatively calculating the fat fraction of the rotator cuff muscles, even at very low levels of fatty infiltration. In addition, a quantitative difference in fat fraction was observed between participants with different degrees of tear vs. those without any shoulder pathologies. Multi-point Dixon imaging has the potential to be utilized clinically to objectively quantify fatty infiltration and may lead to improved clinical decision making for patients with rotator cuff tears.
{"title":"The Use of Dixon Magnetic Resonance Imaging Methods for the Quantification of Rotator Cuff Fatty Infiltration: A Systematic Review","authors":"A. Nasr, Joshua Harris, Jijia Wang, Michael Khazzam, Nitin B. Jain, Yi-Ting Tzen, Yen-Sheng Lin","doi":"10.3390/muscles3020013","DOIUrl":"https://doi.org/10.3390/muscles3020013","url":null,"abstract":"Fatty infiltration of the rotator cuff muscles is very common following rotator cuff tears and is one of the most important factors in determining treatment. Current clinical practice relies on subjective evaluation of fatty infiltration through categorical scoring based on the Goutallier classification system. The Dixon magnetic resonance imaging (MRI) sequence provides flexibility in selecting echo times for water–fat separation. The Dixon method, therefore, has the potential to provide robust and high-quality fat quantification that allows for more accurate calculation of fat fraction (%Fat) of the rotator cuff muscles than the Goutallier classification system. However, significant variance exists in sequencing and post-processing methodology within the recent application of Dixon sequences to quantify rotator cuff fatty infiltration. In this paper, we conducted a systematic review to synthesize the relevant literature utilizing Dixon sequencing for the quantification of rotator cuff fatty infiltration. The literature search was extracted from 1094 articles, with 12 studies included in the final review. Regardless of the varying sequencing pattern and post-processing techniques among studies, the findings suggest the Dixon method is reliable for quantitatively calculating the fat fraction of the rotator cuff muscles, even at very low levels of fatty infiltration. In addition, a quantitative difference in fat fraction was observed between participants with different degrees of tear vs. those without any shoulder pathologies. Multi-point Dixon imaging has the potential to be utilized clinically to objectively quantify fatty infiltration and may lead to improved clinical decision making for patients with rotator cuff tears.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"120 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141124478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cecily A. Byrne, G. Fantuzzi, Jeremy T. Stephan, Sage J. Kim, Vanessa M. Oddo, Timothy J. Koh, Sandra L. Gomez
(1) Background: Sarcopenia, or low skeletal mass index (SMI), contributes to higher lung cancer mortality. The SMI at third lumbar vertebrae (L3) is the reference standard for body composition analysis. However, there is a need to explore the validity of alternative landmarks in this population. We compared the agreement of sarcopenia identification at the first lumbar (L1) and second lumbar (L2) to L3 in non-Hispanic Black (NHB) and White (NHW) individuals with lung cancer. (2) Methods: This retrospective, cross-sectional study included 214 NHB and NHW adults with lung cancer. CT scans were analyzed to calculate the SMI at L1, L2, and L3. T-tests, chi-square, Pearson’s correlation, Cohen’s kappa, sensitivity, and specificity analysis were used. (3) Results: Subjects presented with a mean age of 68.4 ± 9.9 years and BMI of 26.3 ± 6.0 kg/m2. Sarcopenia prevalence varied from 19.6% at L1 to 39.7% at L3. Cohen’s kappa coefficient was 0.46 for L1 and 0.64 for L2, indicating weak and moderate agreement for the identification of sarcopenia compared to L3. (4) Conclusions: Sarcopenia prevalence varied greatly depending on the vertebral landmark used for assessment. Using L2 or L1 alone resulted in a 16.8% and 23.8% misclassification of sarcopenia in this cohort of individuals with lung cancer.
{"title":"Sarcopenia Identification Using Alternative Vertebral Landmarks in Individuals with Lung Cancer","authors":"Cecily A. Byrne, G. Fantuzzi, Jeremy T. Stephan, Sage J. Kim, Vanessa M. Oddo, Timothy J. Koh, Sandra L. Gomez","doi":"10.3390/muscles3020012","DOIUrl":"https://doi.org/10.3390/muscles3020012","url":null,"abstract":"(1) Background: Sarcopenia, or low skeletal mass index (SMI), contributes to higher lung cancer mortality. The SMI at third lumbar vertebrae (L3) is the reference standard for body composition analysis. However, there is a need to explore the validity of alternative landmarks in this population. We compared the agreement of sarcopenia identification at the first lumbar (L1) and second lumbar (L2) to L3 in non-Hispanic Black (NHB) and White (NHW) individuals with lung cancer. (2) Methods: This retrospective, cross-sectional study included 214 NHB and NHW adults with lung cancer. CT scans were analyzed to calculate the SMI at L1, L2, and L3. T-tests, chi-square, Pearson’s correlation, Cohen’s kappa, sensitivity, and specificity analysis were used. (3) Results: Subjects presented with a mean age of 68.4 ± 9.9 years and BMI of 26.3 ± 6.0 kg/m2. Sarcopenia prevalence varied from 19.6% at L1 to 39.7% at L3. Cohen’s kappa coefficient was 0.46 for L1 and 0.64 for L2, indicating weak and moderate agreement for the identification of sarcopenia compared to L3. (4) Conclusions: Sarcopenia prevalence varied greatly depending on the vertebral landmark used for assessment. Using L2 or L1 alone resulted in a 16.8% and 23.8% misclassification of sarcopenia in this cohort of individuals with lung cancer.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"362 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140698000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. García, Alicia Aurora Rodríguez, Corrado Angelini, Maddalen García-Sanchoyerto, Patricia Espinosa-Blanco, Oscar Martínez
Neuromuscular diseases (NMD) cover a broad spectrum of different rare diagnoses in which the primary lesion is in the peripheral nervous system. The impairment caused by an NMD does not only interfere with physical status but also has a clear impact on health-related quality of life (HRQoL). It is therefore essential to know the coping style used by these patients. This study aims to analyze the coping strategies in a sample of people with NMD and how their coping style affects their HRQoL. This cross-sectional study included 61 adult patients diagnosed with a rare NMD. WHO-DAS II, SIP, SF-36, and COPE-60 instruments were administered. The results showed that people affected by NMDs tend to use more frequent coping strategies such as active planning, personal growth, and acceptance. In contrast, the least-used strategies were restraint, mental disengagement, venting, humor, and religion, which affected HRQoL negatively. Moreover, the degree of disability was a relevant variable, with an impact on HRQoL. Social support can be considered the main coping strategy that leads to an improvement in the psychosocial HRQoL (β = 503, p < 0.001). These findings are relevant to clinical practice, given the need to understand the coping variable to improve HRQoL.
{"title":"Effects of Coping Strategies on Health-Related Quality of Life of People with Neuromuscular Diseases","authors":"I. García, Alicia Aurora Rodríguez, Corrado Angelini, Maddalen García-Sanchoyerto, Patricia Espinosa-Blanco, Oscar Martínez","doi":"10.3390/muscles3020011","DOIUrl":"https://doi.org/10.3390/muscles3020011","url":null,"abstract":"Neuromuscular diseases (NMD) cover a broad spectrum of different rare diagnoses in which the primary lesion is in the peripheral nervous system. The impairment caused by an NMD does not only interfere with physical status but also has a clear impact on health-related quality of life (HRQoL). It is therefore essential to know the coping style used by these patients. This study aims to analyze the coping strategies in a sample of people with NMD and how their coping style affects their HRQoL. This cross-sectional study included 61 adult patients diagnosed with a rare NMD. WHO-DAS II, SIP, SF-36, and COPE-60 instruments were administered. The results showed that people affected by NMDs tend to use more frequent coping strategies such as active planning, personal growth, and acceptance. In contrast, the least-used strategies were restraint, mental disengagement, venting, humor, and religion, which affected HRQoL negatively. Moreover, the degree of disability was a relevant variable, with an impact on HRQoL. Social support can be considered the main coping strategy that leads to an improvement in the psychosocial HRQoL (β = 503, p < 0.001). These findings are relevant to clinical practice, given the need to understand the coping variable to improve HRQoL.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"36 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140747048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Theresa Paulus, Natalie Young, Emily Jessop, C. Berwanger, C. Clemen, Rolf Schröder, Rafał Płoski, Christian Hagel, Y. Hellenbroich, A. Moser, I. Karakesisoglou
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome sequencing revealed a novel heterozygous SYNE2 splice site mutation (NM_182914.3:c.15306+2T>G). This mutation is likely to result in the loss of the donor splice site in intron 82. While a diagnostic muscle biopsy showed unspecific myopathological findings, immunofluorescence analyses of skeletal muscle and dermal cells derived from the patient showed nuclear shape alterations when compared to control cells. In addition, a significantly reduced nesprin-2 giant protein localisation to the nuclear envelope was observed in patient-derived dermal fibroblasts. Our findings imply that the novel heterozygous SYNE2 mutation results in a monoallelic splicing defect of nesprin-2, thereby leading to a rare cause of myalgia and hyperCKemia.
{"title":"An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?","authors":"Theresa Paulus, Natalie Young, Emily Jessop, C. Berwanger, C. Clemen, Rolf Schröder, Rafał Płoski, Christian Hagel, Y. Hellenbroich, A. Moser, I. Karakesisoglou","doi":"10.3390/muscles3010010","DOIUrl":"https://doi.org/10.3390/muscles3010010","url":null,"abstract":"SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome sequencing revealed a novel heterozygous SYNE2 splice site mutation (NM_182914.3:c.15306+2T>G). This mutation is likely to result in the loss of the donor splice site in intron 82. While a diagnostic muscle biopsy showed unspecific myopathological findings, immunofluorescence analyses of skeletal muscle and dermal cells derived from the patient showed nuclear shape alterations when compared to control cells. In addition, a significantly reduced nesprin-2 giant protein localisation to the nuclear envelope was observed in patient-derived dermal fibroblasts. Our findings imply that the novel heterozygous SYNE2 mutation results in a monoallelic splicing defect of nesprin-2, thereby leading to a rare cause of myalgia and hyperCKemia.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"10 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140239424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study’s primary objective was to examine the differences in body composition, abdominal strength, absolute and relative power, handgrip strength, one repetition maximum for squat and bench press, and the maximum count of push-up and sit-up repetitions executed within a minute across different age cohorts of firefighters. Furthermore, this study aimed to evaluate the age-related differences in firefighters’ completion times of six firefighting tasks. Eighty-four male volunteer firefighters (age 33.79 ± 6.97 years) were grouped into three age categories, 20–30 years, 31–40 years, and 41–50 years, and underwent the aforementioned evaluations. One-way analysis of variance (MANOVA) revealed that age exerts a statistically significant influence (p < 0.001) on body fat percentage, waist circumference, and waist-to-hip ratio. Furthermore, age significantly affected the overall time of the ability test (p < 0.001) and the duration required to accomplish each individual task (p < 0.001). Additionally, age significantly affected abdominal strength, relative power (as measured by the step test), and the maximum count of push-up and sit-up repetitions performed within a minute. These outcomes support earlier research indicating an age-associated decrement in physical fitness parameters among firefighters. It is recommended that firefighters prioritize maintaining strength and endurance of the abdominal muscles, upper body muscular endurance, and a healthy body weight. The emphasis on specific muscular groups is essential for improving task performance within this profession.
{"title":"Age-Related Differences in Physical Fitness and Performance of an “Ability Test” among Firefighters","authors":"Koulla Parpa, M. Michaelides","doi":"10.3390/muscles3010009","DOIUrl":"https://doi.org/10.3390/muscles3010009","url":null,"abstract":"This study’s primary objective was to examine the differences in body composition, abdominal strength, absolute and relative power, handgrip strength, one repetition maximum for squat and bench press, and the maximum count of push-up and sit-up repetitions executed within a minute across different age cohorts of firefighters. Furthermore, this study aimed to evaluate the age-related differences in firefighters’ completion times of six firefighting tasks. Eighty-four male volunteer firefighters (age 33.79 ± 6.97 years) were grouped into three age categories, 20–30 years, 31–40 years, and 41–50 years, and underwent the aforementioned evaluations. One-way analysis of variance (MANOVA) revealed that age exerts a statistically significant influence (p < 0.001) on body fat percentage, waist circumference, and waist-to-hip ratio. Furthermore, age significantly affected the overall time of the ability test (p < 0.001) and the duration required to accomplish each individual task (p < 0.001). Additionally, age significantly affected abdominal strength, relative power (as measured by the step test), and the maximum count of push-up and sit-up repetitions performed within a minute. These outcomes support earlier research indicating an age-associated decrement in physical fitness parameters among firefighters. It is recommended that firefighters prioritize maintaining strength and endurance of the abdominal muscles, upper body muscular endurance, and a healthy body weight. The emphasis on specific muscular groups is essential for improving task performance within this profession.","PeriodicalId":502800,"journal":{"name":"Muscles","volume":"46 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140259326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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