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Acta Myologica : Myopathies and... 2023Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe...
Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical examination showed that the pelvic girdles had a predominantly proximal and symmetrical distribution of weakness without cardiac or respiratory involvement. They both had a modified Gardner-Medwin Walton Scale mGMWS grade of 4 and a modified Rankin Scale (mRS) score of 1. The DNA sequencing revealed a novel deletion of exons 2 and 3 in one allele and a missense mutation c.1364C > A, which has been reported to be responsible for congenital muscular dystrophy and mental retardation on the second allele. The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology.
Topics: Humans; Muscle, Skeletal; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Mutation; Pentosyltransferases; Phenotype; Proteins
PubMed: 38406381
DOI: 10.36185/2532-1900-391 -
Journal of Dance Medicine & Science :... Jun 2024The Backalast compression jacket is intended to improve posture and proprioception of the trunk and shoulder girdle for dancers and dance students during dance training...
The Backalast compression jacket is intended to improve posture and proprioception of the trunk and shoulder girdle for dancers and dance students during dance training by way of elastic bands in the rear of the garment (which include bands enclosing the inferior thorax). This study was intended to investigate whether there is evidence to support those objectives. Fifteen dance students participated (4 male, mean age 19.9 ± 1.4 years old). The dependent variables of trunk-pelvis angle and proximity of trunk axis to global vertical for each participant were measured using optical motion capture before and after the completion of a series of trunk movements. The Helen Hayes model, which we used to represent the trunk, includes the shoulder girdles as part of the trunk. We compared the effect of the type of garment (Backalast or control compression shirt) worn upon the 2 dependent variables, within-subject with paired -tests. The order of whether Backalast or control compression shirt was worn first was alternated between participants. The pre/posttest difference in trunk proprioception as represented by the construct of ability to reproduce trunk-pelvis angle wearing the Backalast was 0.8° ± 0.8°, but for the control shirt, the difference was 1.8° ± 1.4°, = .03. The difference between garments in vertical trunk alignment, measured after the series of trunk movements, was not significant. Our findings suggest that the Backalast can help enhance trunk proprioception when compared to the control compression shirt, although it did not change the angle at which the participants' held their trunks while standing erect (proximity to global vertical).
Topics: Humans; Male; Dancing; Young Adult; Female; Range of Motion, Articular; Proprioception; Torso; Posture; Pelvis; Clothing; Biomechanical Phenomena
PubMed: 38385253
DOI: 10.1177/1089313X241232446 -
Gait & Posture Mar 2024Perinatal running participation has increased recently; however, pregnancy related symptoms can limit activity. Perinatal running biomechanics could inform interventions...
BACKGROUND
Perinatal running participation has increased recently; however, pregnancy related symptoms can limit activity. Perinatal running biomechanics could inform interventions to help perinatal individuals maintain an active lifestyle.
RESEARCH QUESTION
Are perinatal running biomaechanics and muscle activation different compared to nulligravida females?
METHODS
Sixteen pregnant participants completed self-selected velocity running during second trimester (2 T), third trimester (3 T), and postpartum (PP) and 16 matched controls completed these procedures once in this case control study. Kinematic, kinetic, and electromyography (EMG) data were collected using a motion capture system, force plates, and EMG electrodes. Peak trunk, pelvis, hip, knee, and ankle kinematics and hip, knee, and ankle moments during stance phase, and average and peak erector spinae (ES), gluteus maximus (GMax), and gluteus medius (GMed) EMG amplitude and duration of activation during stance and swing phases were calculated. Independent t-tests were used to compare 2 T, 3 T, and PP to control participants (α < 0.05).
RESULTS
Running velocity was slower during 3 T compared to control participants. At all pregnancy timepoints compared to the control group, peak trunk contralateral rotation was smaller. During 2 T and 3 T peak hip flexor moments were smaller. At 3 T pelvis contralateral rotation was smaller, ES average amplitude was greater during swing, GMax percent duration during stance and GMed percent duration during swing were smaller. At PP trunk flexion was smaller and knee abduction was greater (all p < 0.05).
CONCLUSIONS
Decreased running velocity may help offset increased demand during pregnancy. During 3 T, greater ES activation, smaller trunk and pelvis motion, and altered gluteal activation could indicate trunk rigidity combined with modified hip stabilizer muscle utilization. During PP, the rigid trunk combined with greater knee abduction may indicate hip and trunk strength deficits. Altered trunk and hip motion and activation could be relevant to pathologies such as perinatal low back, pelvic girdle, or knee pain.
Topics: Humans; Female; Pregnancy; Hip Joint; Biomechanical Phenomena; Case-Control Studies; Muscle, Skeletal; Electromyography; Running; Buttocks
PubMed: 38377744
DOI: 10.1016/j.gaitpost.2024.02.004 -
Muscle & Nerve May 2024Hemiparetic gait disorders are common in stroke survivors. A circumductory gait is often considered the typical hemiparetic gait. In clinical practice, a wide spectrum...
Hemiparetic gait disorders are common in stroke survivors. A circumductory gait is often considered the typical hemiparetic gait. In clinical practice, a wide spectrum of abnormal gait patterns is observed, depending on the severity of weakness and spasticity, and the anatomical distribution of spasticity. Muscle strength is the key determinant of gait disorders in hemiparetic stroke survivors. Spasticity and its associated involuntary activation of synergistic spastic muscles often alter posture of involved joint(s) and subsequently the alignment of hip, knee, and ankle joints, resulting in abnormal gait patterns. Due to combinations of various levels of muscle weakness and spasticity and their interactions with ground reaction force, presentations of gait disorders are variable. From a neuromechanical perspective, a stepwise visual gait analysis approach is proposed to identify primary underlying causes. In this approach, the pelvic and hip joint movement is examined first. The pelvic girdle constitutes three kinematic determinants. Its abnormality determines the body vector and compensatory kinetic chain reactions in the knee and ankle joints. The second step is to assess the ankle and foot complex abnormality. The last step is to examine abnormality of the knee joint. Assessment of muscle strength and spasticity of hip, knee, and ankle/foot joints needs to be performed before these steps. Lidocaine nerve blocks can be a useful diagnostic tool. Recognizing different patterns and identifying the primary causes are critical to developing clinical interventions to improve gait functions.
Topics: Humans; Muscle Spasticity; Gait; Knee Joint; Stroke; Ankle Joint; Gait Disorders, Neurologic; Movement Disorders; Biomechanical Phenomena
PubMed: 38372396
DOI: 10.1002/mus.28052 -
Journal of Pain Research 2024Pregnancy-related Pelvic Girdle Pain (PPGP) is a prevalent condition characterized by various physiological and pathological processes in the female body. The objective...
BACKGROUND
Pregnancy-related Pelvic Girdle Pain (PPGP) is a prevalent condition characterized by various physiological and pathological processes in the female body. The objective of this study is to offer a comprehensive understanding of the current research landscape, key areas of interest, and potential future directions in the field of PPGP.
METHODS
Using Web of Science, we explored PPGP literature from 2002 to 2022. VOSviewer and CiteSpace facilitated a quantitative analysis, revealing co-authorship patterns, co-occurring themes, citations, and co-citations.
RESULTS
We identified, peaking at 99 publications in 2021. The United States led with 138 publications and the highest citation count (3160). The Karolinska Institute boasted the highest tally of publications (n = 21). Regarding the volume of publications, the esteemed journal of BMC Pregnancy and Childbirth attained the foremost position. Notably, Gutke, Annelie emerged as the most prolific and highly cited author. The analysis of keyword co-occurrence and co-citation clustering unveiled an intricate tapestry of PPGP studies, spanning various domains including risk factors, mechanistic intricacies, diagnostic benchmark, treatment modalities, and far-reaching ramifications on one's quality of life.
CONCLUSION
Research endeavors exploring PPGP have unveiled an enduring trajectory of growth in contemporary times. The existing body of research primarily focuses on delving into the intricate interplay of epidemiological factors and the profound implications of interventions encompassing physical therapy, exercise protocols, and diverse modes of pain management within the domain of PPGP. Multidisciplinary integration encapsulates a prevailing trajectory of progress within this domain, while the focal point of future inquiries into PPGP may revolve around subjects pertaining to standardized outcome reporting.
PubMed: 38371481
DOI: 10.2147/JPR.S431438 -
Cureus Jan 2024Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in...
Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in muscles affecting the shoulder and pelvic girdles is a defining feature of LGMD. Calpainopathy is another name for limb-girdle muscular dystrophy type 2A (LGMD2A). Limb-girdle muscular dystrophy type 2A results from alterations in the calpain-3 (CAPN3) gene, which results in a CAPN3 protein shortage. Gower's sign is most commonly found in LGMD2A. The prevalence ranges from one person in every 14,500 to one in every 123,000. We present a case of a 25-year-old hypotensive female patient who complained of weakness in all four limbs and easy fatigue with a positive Gower's sign. For subsequent management, the neurologist referred the patient to the physical therapy department. The physical therapy goals included enhanced muscle strength, increased joint mobility, reduced fatigue, normalizing gait, and building dynamic balance and postural stability. Diagnosing LGMD clinical variability is important, emphasizing the importance of precise subtype identification and tailoring therapy. Tackling specific muscular deficits and functional restrictions emerges as a critical component in the holistic care of LGMD by physiotherapists. Continuous monitoring and evaluation using appropriate scales and measurements are essential for tracking performance and tailoring treatment strategies. Regular follow-up consultations with the physiotherapist are needed to identify changes in an individual's health and alter the treatment plan accordingly.
PubMed: 38298311
DOI: 10.7759/cureus.51428 -
The Pan African Medical Journal 2023pregnancy related lumbopelvic pain, which refers to low back pain and pelvic girdle pain, is a common musculoskeletal disorder affecting quality of life. The purpose of...
INTRODUCTION
pregnancy related lumbopelvic pain, which refers to low back pain and pelvic girdle pain, is a common musculoskeletal disorder affecting quality of life. The purpose of this study was to establish the prevalence and the factors associated with lumbopelvic pain among pregnant women in their third trimester.
METHODS
four hundred and nineteen pregnant women were included in this institutional-based cross-sectional study. The study was carried out from October 2018 to March 2019 at Kawempe national referral hospital in Uganda. Pregnant women in the third trimester participated in the study. Pregnant women with preexisting backache, a fracture or surgery to the back, hip or pelvic area in the preceding 12 months were excluded. Lumbopelvic pain was defined as low back pain and pelvic girdle pain. Bivariate and multivariable logistic regression were carried out to establish the factors associated with lumbopelvic pain. The presence of lumbopelvic pain was assessed for and diagnosed using the illustrations in the pelvic girdle questionnaire.
RESULTS
the prevalence of pregnancy related lumbopelvic pain was 46% (95% CI: 40.8-50.4). Most women who had pregnancy related lumbopelvic pain experienced lumbar pain. The factors independently associated with pregnancy related lumbopelvic pain (PLPP) were being HIV sero positive [adjusted odds ratio (AOR) 2.25, 95% CI: 1.17-4.35] and having no monthly income (AOR 0.53, 95% CI: 0.30-0.94).
CONCLUSION
in this study, PLPP is common in women attending antenatal clinic in their third trimester. The factors associated with PLPP were being HIV positive and having no income. In future pregnant women who come for antenatal care with pregnancy related lumbopelvic pain should be given appropriate advice and support.
Topics: Female; Pregnancy; Humans; Pregnant Women; Pregnancy Trimester, Third; Pelvic Girdle Pain; Low Back Pain; Cross-Sectional Studies; Prevalence; Quality of Life; Pregnancy Complications
PubMed: 38282782
DOI: 10.11604/pamj.2023.46.68.28293 -
Rheumatology (Oxford, England) Jan 2024To investigate the proportion and distribution of contrast enhancement (CE) of musculoskeletal structures with MRI of the thorax/abdomen/pelvis in giant cell arteritis...
OBJECTIVES
To investigate the proportion and distribution of contrast enhancement (CE) of musculoskeletal structures with MRI of the thorax/abdomen/pelvis in giant cell arteritis (GCA).
METHODS
CE at 34 musculoskeletal sites was rated with a 4-point ordinal scale. Patients were divided into groups with/without glucocorticoid (GC) treatment and with/without symptoms of polymyalgia rheumatica (PMR). Two composite scores were created: an MRI-score, including seven sites and a Limited-MRI-score, including four sites.
RESULTS
Retrospectively, 90 consecutive patients with GCA were included. The population included 54 and 36 patients with and without PMR symptoms, respectively, and 45 (50%) patients were receiving GCs at the time of MRI. CE was found in 90.7% of lumbar spines, 87.5% of the pelvis, 82.2% of shoulder girdles and in 95.6% at any site in patients without GCs. The proportion of patients without and with GCs with at least moderate enhancement was 91.1%/75.6% at ≥ 1-3, 75.6%/51.1% at ≥ 4-6 and 64.4%/28.9% at ≥ 7-9 sites. The mean difference between the proportion of pathological CE in patients with and without GCs was 27.4% for synovial sites and 18.3% for periarticular/musculotendinous sites. Both composite scores captured substantial differences between groups, correlation was very strong between scores.
CONCLUSIONS
MRI shows CE of musculoskeletal structures typical of PMR in most patients with GCA, supporting the concept of "GCA-PMR Spectrum Disease". Changes are more frequent at periarticular/musculotendinous sites and in the presence of PMR symptoms. A clear response to GCs is evident, less so for periarticular/musculotendinous sites.
PubMed: 38265241
DOI: 10.1093/rheumatology/keae043 -
Anatomical Record (Hoboken, N.J. : 2007) Apr 2024Lagerpeton chanarensis is an early avemetatarsalian from the lower Carnian (lowermost Upper Triassic) levels of the Chañares Formation, La Rioja Province, Argentina.... (Review)
Review
Lagerpeton chanarensis is an early avemetatarsalian from the lower Carnian (lowermost Upper Triassic) levels of the Chañares Formation, La Rioja Province, Argentina. Lagerpeton and its kin were traditionally interpreted as dinosaur precursors of cursorial habits, with a bipedal posture and parasagittal gait. Some authors also speculated saltatorial capabilities for this genus. Recent analyses indicate that lagerpetids are early-diverging pterosauromorphs, a hypothesis that invites a review of most aspects of their anatomy and function. A revision of available specimens and additional preparation of previously known individuals indicate that Lagerpeton lacked a parasagittal gait and was probably a sprawling archosaur. This latter inference is based on the femoral head articulation with the acetabulum. The acetabular rim has a strongly laterally projected posteroventral antitrochanteric corner, which results in a position of the legs that recalls that of sprawling living reptiles, such as lizards, and departs from the parasagittally positioned limbs of dinosaurs. This may indicate that early pterosauromorphs had a sprawling posture of their hindlegs, casting doubts on the significance of bipedal posture and parasagittal gait for the radiation of early ornithodirans, given that both traits have been regarded as key features that triggered the ecological and evolutionary success of the clade. Our results bolster recent claims of a high ecomorphological diversity among early avemetatarsalians.
Topics: Animals; Phylogeny; Fossils; Biological Evolution; Lower Extremity; Dinosaurs; Gait; Lizards; Posture
PubMed: 38263641
DOI: 10.1002/ar.25389 -
Anatomical Record (Hoboken, N.J. : 2007) Apr 2024Teyujagua paradoxa is a remarkable early archosauromorph from the Lower Triassic Sanga do Cabral Formation, Brazil. The species was originally described from an almost...
Teyujagua paradoxa is a remarkable early archosauromorph from the Lower Triassic Sanga do Cabral Formation, Brazil. The species was originally described from an almost complete skull and a few associated cervical vertebrae, and no further postcranial elements were known at that time. Additional fieldwork in the Sanga do Cabral Formation, however, was successful in recovering a fairly complete postcranial skeleton attributable to the holotype. Here, we describe this new postcranial material, which is composed of cervical, dorsal, sacral and caudal vertebrae, limbs, pectoral and pelvic girdles, ribs, and gastralia. The description of its postcranial skeleton makes T. paradoxa one of the best-known early-diverging archosauromorphs. The cladistic analysis performed after the scoring of postcranial data recovered T. paradoxa in the same position initially described, close to the node that defines the Archosauriformes. Teyujagua paradoxa shares morphological features with representatives of early-diverging archosauromorphs and archosauriforms, with certain traits demonstrating a mosaic of plesiomorphic and apomorphic character states. We also performed partitioned morphospace and disparity analysis to elucidate the morphological disparity and evolutionary patterns among archosauromorphs. Teyujagua paradoxa occupies a notable position, suggesting an intermediate morphology between early archosauromorphs and proterosuchids. Disparity estimates highlighted Pseudosuchia and Avemetatarsalia as having the highest median disparity, reflecting their diverse cranial and postcranial morphologies, respectively. These findings offer valuable insights into archosauromorph macroevolution and adaptation.
Topics: Animals; Phylogeny; Fossils; Reptiles; Skull; Brazil
PubMed: 38259049
DOI: 10.1002/ar.25391