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Scientific Reports Mar 2024Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of...
Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget's disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with both PDB and myopathy, and two (15%) were presymptomatic carriers. We aim to characterize the PDB in diagnosed individuals, and potentially identify PDB in the myopathy and presymptomatic groups. Interestingly, two patients with previously undiagnosed PDB had positive diagnostic findings on the bone scan and subsequent radiograph imaging. Among the individuals with PDB, increased radiotracer uptake of the affected bones were of typical distribution as seen in conventional PDB and those reported in other MSP1 cohorts which are the thoracic spine and ribs (75%), pelvis (75%), shoulder (75%) and calvarium (15%). Overall, we show that technetium-99m bone scans done at regular intervals are a sensitive screening tool in patients with MSP1 associated VCP variants at risk for PDB. However, diagnostic confirmation should be coupled with clinical history, biochemical analysis, and skeletal radiographs to facilitate early treatment and prevention complications, acknowledging its limited specificity.
Topics: Male; Female; Humans; Frontotemporal Dementia; Valosin Containing Protein; Cell Cycle Proteins; Osteitis Deformans; Merozoite Surface Protein 1; Tomography, X-Ray Computed; Mutation; Myositis, Inclusion Body; Muscular Dystrophies, Limb-Girdle
PubMed: 38467645
DOI: 10.1038/s41598-024-54526-7 -
American Journal of Obstetrics and... Mar 2024It seems puzzling why humans have evolved such a small and rigid birth canal that entails a relatively complex process of labor compared with the birth canal of our... (Review)
Review
It seems puzzling why humans have evolved such a small and rigid birth canal that entails a relatively complex process of labor compared with the birth canal of our closest relatives, the great apes. This study reviewed insights into the evolution of the human birth canal from recent theoretical and empirical studies and discussed connections to obstetrics, gynecology, and orthopedics. Originating from the evolution of bipedality and the large human brain million years ago, the evolution of the human birth canal has been characterized by complex trade-off dynamics among multiple biological, environmental, and sociocultural factors. The long-held notion that a wider pelvis has not evolved because it would be disadvantageous for bipedal locomotion has not yet been empirically verified. However, recent clinical and biomechanical studies suggest that a larger birth canal would compromise pelvic floor stability and increase the risk of incontinence and pelvic organ prolapse. Several mammals have neonates that are equally large or even larger than human neonates compared to the size of the maternal birth canal. In these species, the pubic symphysis opens widely to allow successful delivery. Biomechanical and developmental constraints imposed by bipedality have hindered this evolutionary solution in humans and led to the comparatively rigid pelvic girdle in pregnant women. Mathematical models have shown why the evolutionary compromise to these antagonistic selective factors inevitably involves a certain rate of fetopelvic disproportion. In addition, these models predict that cesarean deliveries have disrupted the evolutionary equilibrium and led to new and ongoing evolutionary changes. Different forms of assisted birth have existed since the stone age and have become an integral part of human reproduction. Paradoxically, by buffering selection, they may also have hindered the evolution of a larger birth canal. Many of the biological, environmental, and sociocultural factors that have influenced the evolution of the human birth canal vary globally and are subject to ongoing transitions. These differences may have contributed to the global variation in the form of the birth canal and the difficulty of labor, and they likely continue to change human reproductive anatomy.
Topics: Animals; Infant, Newborn; Humans; Pregnancy; Female; Biological Evolution; Hominidae; Pelvis; Cesarean Section; Labor, Obstetric; Pelvic Floor; Mammals
PubMed: 38462258
DOI: 10.1016/j.ajog.2022.09.010 -
PloS One 2024During pregnancy, many changes in the musculoskeletal system and pregnancy-related disorders affect posture and postural stability. Pregnancy-related pelvic girdle pain...
INTRODUCTION
During pregnancy, many changes in the musculoskeletal system and pregnancy-related disorders affect posture and postural stability. Pregnancy-related pelvic girdle pain (PPGP) is a common disorder in pregnancy; the cause remains unknown. The purpose of the present study was to determine if PPGP affects static postural stability and its relation to the stage of pregnancy.
METHODS
Sixty-three pregnant women between the ages of 18 and 45 and between the 12th and 38th weeks of gestation were included in the study. They were divided into four groups according on the trimester and the presence of PPGP. Static balance was assessed using a force plate on firm and compliant surfaces with eyes open and closed.
RESULTS
Pregnant women with PPGP had significantly (p < 0.05) greater centre-of-pressure velocity and sway area compared to pregnant women without PPGP, especially in the third trimester of pregnancy. In the second trimester, only two significant differences in COP parameters were observed between pregnant women with and without PPGP. Pregnant women in the third trimester of pregnancy had significantly (p < 0.05) greater centre-of-pressure velocity and larger postural sway area compared to pregnant women in the second trimester of pregnancy, regardless of PPGP.
DISCUSSION AND CONCLUSION
Pregnant women with PPGP had poorer static stability when compared to pregnant women without pain, especially in the third trimester of pregnancy. The cause could be found in the poorer ability to stabilise the trunk and pelvis, poorer proprioception, and issues with automatic movement patterns.
Topics: Pregnancy; Humans; Female; Infant; Pregnancy Trimester, Third; Pelvic Girdle Pain; Pregnancy Trimester, Second; Pregnancy Trimesters; Postural Balance; Pregnancy Complications
PubMed: 38457422
DOI: 10.1371/journal.pone.0287221 -
An Approach to the Examination of the Lumbar Plexus for Neurosurgical Residents: A Video Manuscript.The Malaysian Journal of Medical... Feb 2024The lumbar plexus provides innervation to the lower limbs and is essential in enabling motor movement and sensation in the lower limbs. Some of its branches also...
The lumbar plexus provides innervation to the lower limbs and is essential in enabling motor movement and sensation in the lower limbs. Some of its branches also innervate the muscles in the pelvic girdle. Compared to the brachial plexus in the upper limbs, the lumbar plexus appears to garner less recognition among physicians and surgeons. However, it is important to understand the anatomy of the lumbar plexus and its branches along with the innervation they enable, as injury to them can cause plexopathies and pathologies that should be recognised by any treating clinician. Lumbar disc herniation, trauma and entrapment by muscles or hypertrophic ligaments are common causes of lumbar plexus or nerve injuries. A video was produced to demonstrate the examination techniques explained in this article. To provide comprehensive examination of the lower limbs, the sciatic nerve and its branches are also included in the examination video.
PubMed: 38456113
DOI: 10.21315/mjms2024.31.1.19 -
Scandinavian Journal of Pain Jan 2024The aim of this study is to investigate the criterion validity, specifically the concurrent validity of the measure of days with bothersome pain, by investigating its...
OBJECTIVES
The aim of this study is to investigate the criterion validity, specifically the concurrent validity of the measure of days with bothersome pain, by investigating its association with measures of pain intensity, disability, and quality of life.
METHODS
We used two separate cohorts to study the concurrent validity of "days with bothersome pain," by investigating its association with pain intensity, disability, and quality of life: (1) 321 patients with low back pain (LBP), using follow-up data at 1 year, and (2) 170 pregnant women with pelvic girdle pain (PGP), using data at 12 and 30 weeks of their pregnancy. In both studies, weekly text messages asked for the number of days with bothersome pain the previous week. Pearson's correlation, univariable, and multivariable linear regression were used to assess the association between days with bothersome pain per week and pain intensity, disability, and quality of life. Non-linear associations were explored.
RESULTS
Days with bothersome pain were moderately and inversely correlated with quality of life ( = -0.45, < 0.001), and moderately correlated with pain intensity ( = 0.70, < 0.001) and disability ( = 0.51, < 0.001), among patients with LBP, and to a lesser degree among pregnant women with PGP (corresponding values at 18 weeks of pregnancy for quality of life; = -0.27, = 0.005, for pain intensity = 0.41, < 0.001, and for disability = 0.41, < 0.001). Furthermore, it was best explained by pain intensity for LBP patients, and by pain intensity and disability for pregnant women with pelvic pain. For the latter cohort, non-linear analyses suggested that days with bothersome pain could not distinguish between individuals with different high pain intensities and disabilities and low quality of life.
CONCLUSIONS
We consider the concurrent validity of "days with bothersome pain" to be moderate in the correlations with pain intensity, disability, and quality of life in patients with LBP and in pregnant women with PGP. Ceiling effects may be an issue in populations with high pain severity. The differences between the cohorts suggested that also other constructs are involved in the concept of days with bothersome pain.
Topics: Pregnancy; Humans; Female; Pain Measurement; Quality of Life; Low Back Pain; Pelvic Pain; Linear Models
PubMed: 38447020
DOI: 10.1515/sjpain-2023-0049 -
Journal of Pain Research 2024[This corrects the article DOI: 10.2147/JPR.S431438.].
[This corrects the article DOI: 10.2147/JPR.S431438.].
PubMed: 38444879
DOI: 10.2147/JPR.S466139 -
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 -
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 -
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