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Keywords = shoulder girdle muscle

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15 pages, 1463 KB  
Article
Acute Effects of Diaphragmatic Breathing on Trunk and Shoulder Mobility and Pulmonary Function in Healthy Young Adults
by Ana Ristovski, Marko Kapeleti, Igor Zlatović and Vladimir Mrdaković
J. Funct. Morphol. Kinesiol. 2025, 10(3), 325; https://doi.org/10.3390/jfmk10030325 - 23 Aug 2025
Viewed by 8169
Abstract
Background: This study investigated whether diaphragmatic breathing intervention could lead to acute improvements in trunk and shoulder mobility and pulmonary function in healthy young adults. Methods: Twenty-six physically active males (aged 24.3 ± 2.0 years, body height of 182.9 ± 6.4 cm, and [...] Read more.
Background: This study investigated whether diaphragmatic breathing intervention could lead to acute improvements in trunk and shoulder mobility and pulmonary function in healthy young adults. Methods: Twenty-six physically active males (aged 24.3 ± 2.0 years, body height of 182.9 ± 6.4 cm, and body weight of 82.8 ± 10.4 kg) were randomly assigned to either an experimental or a control group. The experimental group underwent a 22 min diaphragmatic breathing intervention in a lying position. The control group lay passively, breathing naturally. Mobility assessments (chest expansion, thoracic spine rotation, lateral trunk flexion, and shoulder girdle mobility) and pulmonary function tests (forced vital capacity, forced expiratory volume in one second and their ratio) were conducted before and after the intervention. Results: Only experimental group showed significant improvements after the intervention (p ≤ 0.01) in the chest expansion (+22.2%, ES = 0.62), thoracic spine rotation (+21.7%, ES = 0.76 on the left and +23.3%, ES = 0.84 on the right side), lateral trunk flexion (+11.7%, ES = 0.62 on the left and +15.4%, ES = 1 on the right side), shoulder girdle mobility (+20.2%, ES = 0.44 on the left and +21.5%, ES = 0.38 on the right side), forced vital capacity (+4.7%, ES = 0.39) and reduction (p ≤ 0.01) in ratio between forced expiratory volume in one second and forced vital capacity (−4.6%, ES = 0.47). Conclusion: The results revealed that a 22 min diaphragmatic breathing intervention could immediately improve trunk and shoulder mobility and pulmonary function, likely due to anatomical relationships and more efficient use of respiratory muscles, especially the diaphragm. Full article
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14 pages, 6317 KB  
Article
The Human Disharmony Loop: A Case Series Proposing the Unique Role of the Pectoralis Minor in a Unifying Syndrome of Chronic Pain, Neuropathy, and Weakness
by Ketan Sharma and James M. Friedman
J. Clin. Med. 2025, 14(5), 1769; https://doi.org/10.3390/jcm14051769 - 6 Mar 2025
Cited by 2 | Viewed by 4419
Abstract
Background/Objectives: Many patients evaluated by shoulder specialists suffer from intractable pain, neuropathy, and weakness. The pectoralis minor (PM) remains the only scapula muscle to receive lower trunk (C8-T1) input. We propose a novel syndrome: the Human Disharmony Loop. This model portrays how [...] Read more.
Background/Objectives: Many patients evaluated by shoulder specialists suffer from intractable pain, neuropathy, and weakness. The pectoralis minor (PM) remains the only scapula muscle to receive lower trunk (C8-T1) input. We propose a novel syndrome: the Human Disharmony Loop. This model portrays how this unique PM innervation causes scapular dyskinesia, which deranges the anatomy of the upper limb girdle and produces a refractory symptom complex of pain, neuropathy, and weakness. We hypothesize that certain patients with historically intractable symptoms of the upper limb girdle may benefit from PM tenotomy. Methods: Ten patients of diverse etiologies presented with a similar constellation of complaints. The patients included a female athlete, a female with macromastia, a male bodybuilder, and patients with post-radiation breast cancer, post-operative shoulder arthroplasty, interscalene block injury, cervical spine disease, persistent impingement after rotator cuff repair, direct traction injury, and occupational disorder. All patients exhibited coracoid tenderness, scapula protraction with internal rotation and anterior tilt, and pain involving the neck, shoulder, and upper back. The patients demonstrated varying degrees of arm neuropathy, subacromial impingement, and occipital headaches. The patients failed all prior treatments by multiple subspecialists, including surgery. Each patient underwent isolated open PM tenotomy. Results: In all ten patients, PM tenotomy substantially reduced shoulder, upper back, and neck pain, cleared concomitant neuropathy, restored full motion, and eradicated occipital headaches. The response to surgery was rapid, dramatic, and durable. Conclusions: The unique asymmetric neurologic innervation to the sole ventral stabilizer of the scapula, the pectoralis minor, predisposes the human shoulder to neurologic and musculoskeletal imbalance. This produces the Human Disharmony Loop: a clinical syndrome spanning from the neck to the fingertips, with chronic pain, neuropathy, and weakness. These challenging patients may benefit dramatically from isolated PM tenotomy. Full article
(This article belongs to the Section Clinical Neurology)
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18 pages, 971 KB  
Article
Changes in Shoulder Girdle Muscle Activity and Ratio During Pilates-Based Exercises
by Seong-Ik Seo, Eui-Young Jung, Woo-Lim Mun and Su-Yeon Roh
Life 2025, 15(2), 303; https://doi.org/10.3390/life15020303 - 14 Feb 2025
Cited by 2 | Viewed by 2195
Abstract
Among the Pilates-based exercises, the modified side-arm (MSA) and modified high-five (MHF) are commonly used for shoulder strengthening and rehabilitation. This study examined shoulder girdle muscle activity and ratios across different spring intensities. Twenty-two healthy males performed the MSA and MHF using yellow [...] Read more.
Among the Pilates-based exercises, the modified side-arm (MSA) and modified high-five (MHF) are commonly used for shoulder strengthening and rehabilitation. This study examined shoulder girdle muscle activity and ratios across different spring intensities. Twenty-two healthy males performed the MSA and MHF using yellow (low), blue (medium), and red (high) springs. Surface electromyography (EMG) was used to measure serratus anterior (SA), lower trapezius (LT), levator scapulae (LS), upper trapezius (UT), and middle deltoid (MD) muscle activity, along with LS/SA, LS/LT, and UT/LT ratios during concentric, isometric, and eccentric phases. Muscle activities were generally higher in the MHF than in the MSA with the same spring. Both exercises demonstrated a proportional increase in activity with spring intensity, though the activity of the SA and LT in the MHF plateaued. MHF ratios were significantly higher with the red spring. These findings indicate that the MHF stimulates shoulder girdle muscles more than the MSA, and that the MSA can further stimulate shoulder girdle muscles by increasing spring intensity. Additionally, optimal spring intensity exists in the MHF for targeting shoulder stabilization muscles. However, excessive spring intensity during the MHF may lead to abnormal compensation, emphasizing the need for careful spring intensity progression. Full article
(This article belongs to the Section Physiology and Pathology)
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14 pages, 4300 KB  
Technical Note
Upper Crossed Syndrome and Scapulae Upper-Trapping: A Mesotherapy Protocol in Cervicoscapulobrachial Pain—The 8:1 Block
by Luyddy Pires, Napoliane Santos, João Vitor Lana, Alex Pontes de Macedo, Fábio Ramos Costa, Gabriel Ohana Marques Azzini, Tomas Mosaner, Daniel de Moraes Ferreira Jorge, Gabriel Silva Santos, Arthur Medeiros, José Alexandre Reale Pereira and José Fábio Lana
Bioengineering 2024, 11(11), 1142; https://doi.org/10.3390/bioengineering11111142 - 13 Nov 2024
Cited by 2 | Viewed by 9818
Abstract
Upper Crossed Syndrome (UCS), described by Vladimir Janda, is characterized by postural changes involving the cervical spine and trunk, leading to biomechanical limitations and cervicoscapulobrachial pain. This study proposes a mesotherapy protocol, termed the 8:1 block, to address cervicoscapulobrachialgia by targeting the scapulae [...] Read more.
Upper Crossed Syndrome (UCS), described by Vladimir Janda, is characterized by postural changes involving the cervical spine and trunk, leading to biomechanical limitations and cervicoscapulobrachial pain. This study proposes a mesotherapy protocol, termed the 8:1 block, to address cervicoscapulobrachialgia by targeting the scapulae and associated musculature. The scapula, central to shoulder girdle kinematics, often exhibits dyskinesis and muscular imbalances, notably the pattern referred to as scapular upper trapping (SUT). SUT involves scapular elevation, medial rotation, and shoulder protraction, contributing to cervicobrachial pain. The protocol includes a comprehensive assessment of muscle tone changes and biomechanical considerations, highlighting the importance of the scapula in upper limb movement and posture. Key anatomical changes involve tightened upper trapezius, levator scapulae, and pectoralis minor muscles, with weakened middle trapezius and serratus anterior. The mesotherapy approach targets these imbalances through specific injection points to alleviate muscle tension and correct postural deviations. Case studies from our clinic demonstrate the protocol’s effectiveness in reducing pain and restoring scapular biomechanics. Patients reported significant improvements in pain relief and functional outcomes, underscoring the clinical utility of the 8:1 block in treating cervicoscapulobrachialgia. This protocol offers a feasible, cost-effective intervention that enhances the efficacy of traditional therapeutic exercises by addressing underlying muscular and biomechanical dysfunctions. In conclusion, the 8:1 block mesotherapy protocol provides a novel approach to managing cervicoscapulobrachial pain by focusing on scapular biomechanics and muscle tension. Further studies are needed to validate these findings and refine the protocol for broader clinical application. Full article
(This article belongs to the Special Issue Musculoskeletal Function in Health and Disease)
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11 pages, 978 KB  
Article
Effects of Extrinsic and Intrinsic Motivation on Selective Activation of Shoulder Girdle Muscles During the Barbell Bench Press Exercise
by Katarzyna Strońska-Garbień, Artur Terbalyan, Mariola Gepfert, Robert Roczniok, Miłosz Drozd, Artur Gołaś and Adam Zając
J. Funct. Morphol. Kinesiol. 2024, 9(4), 218; https://doi.org/10.3390/jfmk9040218 - 2 Nov 2024
Viewed by 4335
Abstract
Background/Objectives: This study aimed to investigate the effects of intrinsic and extrinsic motivation on selective muscle activation of the shoulder girdle during the barbell bench press. Specifically, this research focused on how attentional focus on individual muscles, such as the anterior deltoid (AD), [...] Read more.
Background/Objectives: This study aimed to investigate the effects of intrinsic and extrinsic motivation on selective muscle activation of the shoulder girdle during the barbell bench press. Specifically, this research focused on how attentional focus on individual muscles, such as the anterior deltoid (AD), pectoralis major (PM), and triceps brachii long (TBL), could influence their electromyographic (EMG) activity during the exercise. Methods: Twelve male participants, with at least five years of strength training experience, performed bench press exercises under two conditions: with extrinsic motivation (no specific focus on muscle activity) and with intrinsic motivation (internal focus on specific muscles). Surface electromyography (sEMG) was used to measure muscle activity during three sets of bench presses at 60% of one repetition maximum (1RM). Participants were instructed to focus on the activation of specific muscles in a randomized sequence. Results: The intrinsic motivation condition significantly increased muscle activation compared to extrinsic motivation. Electromyographic activity of the AD, PM, and TBL muscles was notably higher when participants focused their attention on these muscles. AD activation increased from 71.78 ± 11.13%MVC (extrinsic) to 88.03 ± 8.84%MVC (intrinsic) (p = 0.0019), while PM and TBL activation also demonstrated significant increases under intrinsic focus. Conclusions: The study concludes that intrinsic motivation, or an internal focus on specific muscle activation, can significantly enhance EMG activity in target muscles during the bench press exercise. This finding has important implications for resistance training and rehabilitation, where focused muscle activation can be utilized to improve training outcomes and muscle engagement. Full article
(This article belongs to the Section Kinesiology and Biomechanics)
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11 pages, 3538 KB  
Article
Muscle Synergy of the Periarticularis Shoulder Muscles during a Wheelchair Propulsion Motion for Wheelchair Basketball
by Yuki Tamura, Noriaki Maeda, Makoto Komiya, Yoshitaka Iwamoto, Tsubasa Tashiro, Satoshi Arima, Shogo Tsutsumi, Rami Mizuta and Yukio Urabe
Appl. Sci. 2024, 14(20), 9292; https://doi.org/10.3390/app14209292 - 12 Oct 2024
Cited by 2 | Viewed by 2300
Abstract
Wheelchair basketball players often develop shoulder pain due to repetitive wheelchair propulsion motion. Wheelchair propulsion involves two phases, push and recovery, with several different muscles simultaneously active in each phase. Although differences in the coordinated activity of multiple muscles may influence the mechanism [...] Read more.
Wheelchair basketball players often develop shoulder pain due to repetitive wheelchair propulsion motion. Wheelchair propulsion involves two phases, push and recovery, with several different muscles simultaneously active in each phase. Although differences in the coordinated activity of multiple muscles may influence the mechanism of injury occurrence, there have been no studies investigating muscle synergy in wheelchair propulsion motion. Twelve healthy adult males with no previous wheelchair driving experience were included. The surface electromyography data of 10 muscles involved in shoulder joint movements were measured during a 20 m wheelchair propulsion motion. Muscle synergies were extracted using non-negative matrix factorization analysis of the electromyography data. Four muscle synergies were identified during wheelchair propulsion. Synergy 1 reflects propulsion through shoulder flexion and elbow flexion, while Synergy 2 involves shoulder flexion and elbow extension. Synergy 3 describes shoulder extension returning the upper limb, which has moved forward during the push, back to its original position, and Synergy 4 relates to stabilize the shoulder girdle during the recovery phase. This study is the first to explore muscle synergy during wheelchair propulsion, and the data from healthy participants without disabilities or pain will provide a baseline for future comparisons with data from wheelchair basketball players. Full article
(This article belongs to the Special Issue Motor Control and Movement Biomechanics)
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11 pages, 1876 KB  
Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma
by Ani Taneva, David Gresham, Velina Guergueltcheva, Teodora Chamova, Veneta Bojinova, Mariana Gospodinova, Maria Katzarova, Radoslav Petkov, Thomas Voit, Lidia Aneva, Ognyan Asenov, Bilyana Georgieva, Violeta Mihaylova, Stoyan Bichev, Tihomir Todorov, Albena Todorova, Luba Kalaydjieva and Ivailo Tournev
Genes 2024, 15(9), 1144; https://doi.org/10.3390/genes15091144 - 30 Aug 2024
Cited by 2 | Viewed by 1597
Abstract
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and [...] Read more.
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees. Molecular genetic analysis showed that all 57 patients were homozygous for the C283Y variant. The muscles of the pelvic girdle and the trunk were affected early and were more severely affected, followed by the shoulder girdle. Macroglossia, hypertrophy of the calves, scapular winging and lumbar hyperlordosis were common in the ambulatory phase. A great intra and interfamilial variability in the clinical presentation of LGMD 2C/R5 was observed, despite having the same underlying molecular defect. Females demonstrated a relatively milder clinical course compared to males. Mean creatine phosphokinase (CK) CK levels were 20 times above normal values. Muscle computer tomography (CT) CT or MRIs showed earlier and more severe involvement of the flexor proximal limb muscles in comparison to extensor muscles. Full article
(This article belongs to the Special Issue Advances in Neurogenetics)
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23 pages, 1542 KB  
Review
Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape
by Samuel L. Beck and Toshifumi Yokota
Int. J. Mol. Sci. 2024, 25(16), 9065; https://doi.org/10.3390/ijms25169065 - 21 Aug 2024
Cited by 6 | Viewed by 4834
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities with age and greater disease severity. FSHD is a disabling [...] Read more.
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities with age and greater disease severity. FSHD is a disabling condition, and patients may also present with various extramuscular symptoms. FSHD is caused by the aberrant expression of double homeobox 4 (DUX4) in skeletal muscle, arising from compromised epigenetic repression of the D4Z4 array. DUX4 encodes the DUX4 protein, a transcription factor that activates myotoxic gene programs to produce the FSHD pathology. Therefore, sequence-specific oligonucleotides aimed at reducing DUX4 levels in patients is a compelling therapeutic approach, and one that has received considerable research interest over the last decade. This review aims to describe the current preclinical landscape of oligonucleotide therapies for FSHD. This includes outlining the mechanism of action of each therapy and summarizing the preclinical results obtained regarding their efficacy in cellular and/or murine disease models. The scope of this review is limited to oligonucleotide-based therapies that inhibit the DUX4 gene, mRNA, or protein in a way that does not involve gene editing. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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11 pages, 3429 KB  
Article
Reduced Clavicle Length Indicates the Severity of Scapular Misalignment in Obstetric Brachial Plexus Lesions
by Rudolf Rosenauer, Antal Nógrádi, Stefan Quadlbauer, Markus Schmidhammer, Robert Schmidhammer and Savas Tsolakidis
J. Pers. Med. 2024, 14(8), 846; https://doi.org/10.3390/jpm14080846 - 9 Aug 2024
Viewed by 1540
Abstract
(1) Background: Although most brachial plexus birth palsies show some spontaneous recovery, secondary operations are likely to follow. Accordingly, due to the loss of muscle innervation, the growth of the affected limb and the shoulder girdle is reduced. This is associated with pathological [...] Read more.
(1) Background: Although most brachial plexus birth palsies show some spontaneous recovery, secondary operations are likely to follow. Accordingly, due to the loss of muscle innervation, the growth of the affected limb and the shoulder girdle is reduced. This is associated with pathological scapula positioning and rotation. The objective of this work was to clarify the relationship between length differences of the two clavicles and different types of scapular dyskinesia. (2) Methods: Twenty-five patients suffering from brachial plexus birth palsy were included in this retrospective study. There were eighteen female and seven male patients with a mean age of 10 years (2 to 23 years). CT scans of the thoracic cage, including both shoulder joints and both clavicles, were obtained preoperatively between 2010 and 2012. Radiographic measurements were taken of the axial plane and 3D reconstructions were produced. Functional evaluations of possible movement and scapular dyskinesia were performed. (3) Results: We found an increasing difference in the length of the clavicle (both in absolute and relative terms) in the children with more pronounced scapular dyskinesia. Additionally, with increasing clavicle length differences, the scapula was positioned in a deteriorated angle compared to the healthy side. Significant positive correlations were identified for the age and absolute difference of the clavicle length and the length and width of the scapula on the affected side. (4) Conclusion: Scapular dyskinesia, which is a common finding in brachial plexus birth palsy, is strongly related to reduced clavicle growth. Reduced clavicle length (which is a relatively easily examinable parameter) compared to the healthy side can be used to estimate the extent of scapular malpositioning on the thoracic cage. The extent and severity of scapular dyskinesia increases with augmented differences in the length of the clavicle. Full article
(This article belongs to the Section Personalized Therapy in Clinical Medicine)
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11 pages, 238 KB  
Article
Neuromuscular Fitness Is Associated with Serve Speed in Young Female Tennis Players
by Zlatan Bilić, Paola Martić, Petar Barbaros, Filip Sinković and Dario Novak
Sports 2024, 12(4), 97; https://doi.org/10.3390/sports12040097 - 30 Mar 2024
Cited by 5 | Viewed by 4120
Abstract
In tennis, the serve plays a key role in determining the success of a player. The speed of a serve is influenced by a multitude of interconnected skills and abilities. The objective of this study was to establish the correlation between the explosive [...] Read more.
In tennis, the serve plays a key role in determining the success of a player. The speed of a serve is influenced by a multitude of interconnected skills and abilities. The objective of this study was to establish the correlation between the explosive strength of the throwing type, the grip strength and flexibility of the arms, and the shoulder girdle with the serve speed in young female tennis players. Additionally, the study aimed to develop a regression model that accurately predicts the serve speed by analyzing the interplay among these variables. The study was carried out on a group of 20 tennis players, who had an average age of 13.10 ± 0.74 years. Additionally, their height was recorded as 165.70 ± 4.90 cm, and their body mass was measured at 51.45 ± 5.84 kg. To assess the motor abilities of the upper extremities, four tests were used that aimed to measure the explosive strength of the throwing type; one test was for the strength of the hand and forearm muscles, and one test was for the flexibility of the arms and shoulder girdle. Of all the variables examined, the medicine ball throw shot put (MBTSP) (r = 0.75), overhead medicine ball throw (OMBT) (r = 0.70), and grip strength (GS) (r = 0.71) displayed a notable correlation with serve speed (p < 0.05). The results obtained from the multiple regression analysis indicate that the combination of selected predictors (MBTSP—medicine ball throw shot put, OMBT—overhead medicine ball throw and GS—grip strength) explained 75% of the variability in serve speed. Significantly, MBTSP surfaced as the predominant predictor, autonomously elucidating 51% of the variability in serve speed. The importance of improving the analyzed motor skills of young female tennis players to enhance their serve in terms of speed is emphasized by the findings of this research. Full article
(This article belongs to the Special Issue Effect of Neuromuscular Fatigue Mechanisms on Exercise Performance)
15 pages, 3229 KB  
Article
Comparing the Impact of Upper Body Control and Core Muscle Stabilization Training on Landing Biomechanics in Individuals with Functional Ankle Instability: A Randomized Controlled Trial
by Daekook M. Nekar, Dong-Yeop Lee, Ji-Heon Hong, Jin-Seop Kim, Seong-Gil Kim, Yeon-Gyo Nam and Jae-Ho Yu
Healthcare 2024, 12(1), 70; https://doi.org/10.3390/healthcare12010070 - 28 Dec 2023
Cited by 5 | Viewed by 4197
Abstract
Functional ankle instability (FAI), which is characterized by recurrent ankle sprains and perceived joint instability, arises from various factors contributing to compromised biomechanical control during activities, particularly those involving landing tasks. While current research predominantly addresses lower-extremity and core stabilization interventions for FAI, [...] Read more.
Functional ankle instability (FAI), which is characterized by recurrent ankle sprains and perceived joint instability, arises from various factors contributing to compromised biomechanical control during activities, particularly those involving landing tasks. While current research predominantly addresses lower-extremity and core stabilization interventions for FAI, the contribution of upper body control to landing biomechanics in this population remains insufficiently explored. In this study, 42 participants (19 males, 23 females) with FAI were randomly assigned to either the upper-body control training group (UBCTG) or the core muscle stabilization training group (CMSTG). The groups underwent six-week interventions, with the UBCTG receiving a dynamic core exercise program including upper body control and the CMSTG receiving static core muscle training. Pre- and post-intervention assessments encompassed electromyography of the gastrocnemius, tibialis anterior, and peroneus longus, motion analysis of the lower extremities, and ground reaction force (GRF) readings during a single-leg-jump task. Additionally, dynamic balance was assessed using the Y balance test and self-reported measurements of ankle instability were performed. The results showed similar increases in muscle activation, joint movement, and self-reported ankle instability scores within both groups. However, significant between-group differences were observed in terms of knee flexion angle, dynamic balance, and ankle instability scores, favoring the UBCTG. Although the peak vertical GRF significantly decreased and the time to peak vertical GRF increased in both groups, more changes were noted in the UBCTG. Our results demonstrated that dynamic core exercises with additional upper body control training enhance landing biomechanics, dynamic balance, and stability in individuals with FAI. Consequently, we recommend incorporating shoulder girdle exercises, proprioceptive drills, and balance exercises into dynamic core training. Full article
(This article belongs to the Special Issue Measuring Biomechanical Loads in Sports and Physical Activity)
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7 pages, 2590 KB  
Case Report
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
by Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oksana Ryzhkova, Nikolay Skryabin, Sergey Kutsev and Elena Dadali
Int. J. Mol. Sci. 2024, 25(1), 129; https://doi.org/10.3390/ijms25010129 - 21 Dec 2023
Cited by 2 | Viewed by 1660
Abstract
The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. [...] Read more.
The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. Here, we report a 27-year-old female with a unique presentation of HCFP3 with two novel compound-heterozygous missense variants: c.763C>G, p.(Arg255Gly), which arose de novo and an inherited c.781C>T, p.(Arg261Cys) variant. The patient exhibited HCFP3 symptoms with mild upward esodeviation and lacked the documented ear malformations common in HCFP. For many years, she was misdiagnosed with facio-scapulo-humeral muscular dystrophy, due to complaints of shoulder girdle and neck muscle weakness. No alternative genetic or acquired causes of neck and shoulder girdle weakness were found, suggesting its potential inclusion in the phenotypic spectrum. Full article
(This article belongs to the Special Issue Rare Diseases: A Diagnostic and Therapeutic Challenge)
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9 pages, 693 KB  
Case Report
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder
by Sivan Lewis, Amy Woroch, Mary Kate Hatch and Reymundo Lozano
Genes 2023, 14(8), 1587; https://doi.org/10.3390/genes14081587 - 5 Aug 2023
Cited by 1 | Viewed by 3118
Abstract
Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, intellectual disability or developmental delay has also been [...] Read more.
Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, intellectual disability or developmental delay has also been reported. Limb-girdle muscular dystrophy-3 is a recessive disorder caused by biallelic variants in the SGCA gene. Similarly, symptoms include proximal muscle weakness, elevated CPK, calf muscle pseudohypertrophy, and mobility issues. Cardiac symptoms and respiratory insufficiency are also common symptoms. This case report details a 3-year-old male with muscular weakness, elevated CK, and a neurodevelopmental disorder in whom a homozygous missense variant in c.229C>T (p.Arg77Cys) associated with limb-girdle muscular dystrophy-3 was found. This report shows the association between SGCA c.229C>T and neurodevelopmental disorders as observed in other muscular dystrophies. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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9 pages, 242 KB  
Article
Shoulder Pain and Trunk Muscles Endurance in Young Male and Female Swimmers
by Nikolaos Paramanidis, Athanasios Kabasakalis, Nikolaos Koutlianos, George Tsalis and Evangelia Kouidi
Healthcare 2023, 11(15), 2145; https://doi.org/10.3390/healthcare11152145 - 27 Jul 2023
Cited by 7 | Viewed by 2643
Abstract
Shoulder pain is a common syndrome in swimming and affects a large number of competitive swimmers. The purpose of the study was to investigate the relationship between pain in the shoulder girdle and the endurance of the trunk muscles in young swimmers. A [...] Read more.
Shoulder pain is a common syndrome in swimming and affects a large number of competitive swimmers. The purpose of the study was to investigate the relationship between pain in the shoulder girdle and the endurance of the trunk muscles in young swimmers. A total of 24 boys and 22 girls, aged 13 to 18 years, participated in the study. The measurements included the completion of a questionnaire (Shoulder Pain and Disability Index, SPADI) and a field test (McGill’s Torso Muscular Endurance Test). The total SPADI score correlated weakly and negatively with the endurance time of back muscles in both sexes (r2 = 0.10, p = 0.035), and moderately and negatively in girls (r2 = 0.23, p = 0.023). A weak negative correlation was found between the disability index and the back muscles’ endurance time in both sexes (r2 = 0.15, p = 0.007), which was moderate in girls only (r2 = 0.25, p = 0.019). The disability index displayed moderate negative correlations with the right oblique’s (r2 = 0.18, p = 0.049) and left oblique’s endurance time (r2 = 0.23, p = 0.024) in girls. Weight, body mass index, the total out-of-water training time per week and age significantly affected the endurance times of the trunk muscles in boys and girls (p < 0.05). In conclusion, strengthening the dorsal and the oblique muscles could reduce shoulder pain and disability in young swimmers and especially girls. Full article
(This article belongs to the Special Issue Effects of Regular Swimming Exercise on Health Promotion)
26 pages, 4132 KB  
Article
Āsana for Neck, Shoulders, and Wrists to Prevent Musculoskeletal Disorders among Dental Professionals: In-Office Yóga Protocol
by Maria Giovanna Gandolfi, Fausto Zamparini, Andrea Spinelli and Carlo Prati
J. Funct. Morphol. Kinesiol. 2023, 8(1), 26; https://doi.org/10.3390/jfmk8010026 - 20 Feb 2023
Cited by 20 | Viewed by 10146
Abstract
Extensive literature reports an increase in physical disorders (pain, pathologies, dysfunctions) and mental malaise/uneasiness (stress, burnout) affecting dental professionals in relation to fast and pressing rhythms of work, long working hours, increasingly demanding patients, ever-evolving technologies, etc. This project has been conceived to [...] Read more.
Extensive literature reports an increase in physical disorders (pain, pathologies, dysfunctions) and mental malaise/uneasiness (stress, burnout) affecting dental professionals in relation to fast and pressing rhythms of work, long working hours, increasingly demanding patients, ever-evolving technologies, etc. This project has been conceived to bring the science of yoga around the world to dental professionals as a preventive (occupational) medicine and to provide knowledge and means for self-care. Yoga is a concentrative self-discipline of the mind, senses, and physical body, that requires regular daily exercise (or meditation), attention, intention, and disciplined action. M&M: The study aimed to design a Yoga protocol specifically devised for dental professionals (dentists, dental hygienists, and dental assistants) including positions (āsana) to be practiced/used in the dental office. The protocol is targeted for the upper body, namely neck, upper back, chest, shoulder girdle, and wrists, being areas greatly affected by work-related musculoskeletal disorders. This paper represents a yoga-based guideline for the self-cure of musculoskeletal disorders among dental professionals. Results: The protocol includes both sitting (Upavistha position) and standing (Utthana or Sama position) āsana, with twisting (Parivrtta), side bending (Parsva), flexion and forward bending (Pashima), and extension and arching (Purva) āsana to mobilize and decompress, and to provide nourishment and oxygen to the musculo-articular system. The paper delivers different concepts and theories developed and deepened by the authors and introduces and spreads yoga as a medical science among dental professionals for the prevention and treatment of work-related musculoskeletal disorders. We articulate notions ranging from stretching out using the vinyāsa method (breath-driven movement) and inward-focused attention to contemplative/concentrative science, interoceptive attention, self-awareness, the mind–body connection, and receptive attitude. The theory of “muscles are bone ties” is coined and delivered with regard to tensegrity musculoskeletal fascial structures connecting, pulling together, and nearing the bone segments where they are anchored. The paper describes over 60 āsana envisaged to be performed on dental stools or using the walls of a dental office or a dental unit chair. A detailed guideline on the work-related disorders that can find relief with the protocol is provided, including the description of breath control for the practice of āsana in vinyāsa. The foundations of the technique reside in the Iyengar Yoga method and Parināma Yoga method. Conclusions: This paper represents a guideline for self-cure in the prevention or treatment of musculoskeletal disorders affecting dental professionals. Yoga is a powerful concentrative self-discipline able to provide physical and mental well-being, representing great help and support in daily life and business for dental professionals. Yógāsana restores retracted and stiff muscles, giving relief to the strained and tired limbs of dental professionals. Yoga is not intended for flexible or physically performing persons but for people who decide to take care of themselves. The practice of specific āsana represents a powerful tool for the prevention or treatment of MSDs related to poor posture, forward head, chronic neck tension (and related headache), depressed chest, compressive disorders on wrists and shoulders as carpal tunnel, impingement syndromes, outlet syndrome, subacromial pain syndrome and spinal disc pathologies. Yoga, as an integrative science in medicine and public health, represents a powerful tool for the prevention and treatment of occupational musculoskeletal disorders and an extraordinary path for the self-care of dental professionals, sitting job workers, and healthcare providers suffering from occupational biomechanical stresses and awkward postures. Full article
(This article belongs to the Topic Role of Exercise in Musculoskeletal Disorders)
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