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Frontiers in Pain Research (Lausanne,... 2024In patients with fibromyalgia, exercise and education are recommended to decrease pain level and improve pain management. The latest scientific evidence recommends to...
BACKGROUND
In patients with fibromyalgia, exercise and education are recommended to decrease pain level and improve pain management. The latest scientific evidence recommends to focus interventions on the upper limb. The aim of this pilot study was to compare the immediate effect of physical activity education vs. a control group on pain and muscle capacity in fibromyalgia patients.
METHOD
Fifty-six participants with fibromyalgia were randomized into an experimental group and a control group. The intervention consisted in watching a five-minute video that provided information about fibromyalgia, pain, kinesiophobia and physical activity. The control group watched a neutral five-minute video about beavers in Quebec. Following the video, participants performed a muscular fatigue task consisting of a repeated unilateral shoulder abduction task. At baseline and following the muscular fatigue task, maximal voluntary contraction (MVC) in shoulder abduction was assessed as well as pain level and pressure pain threshold (PPT) in the upper limb. Electromyographic activity was also assessed for upper trapezius and middle deltoid muscles. Two-way repeated measures analysis of variance was used to compare the MVC, PPT, and pain level before and after the muscular fatigue task between groups.
RESULTS
The experimental group showed a significantly lower increase in pain than the control group in the middle deltoid muscle ( = 0.002) when assessed by verbal pain rating scale. No significant interaction or main effect of Group and Time were observed for the pain level at the upper trapezius and elbow extensor muscles nor for any of the PPT measures. According to electromyographic data, the median frequency values indicate that neither group experienced muscle fatigue during the repeated contraction task.
CONCLUSIONS
The preliminary results suggest that a short physical activity education video positively influenced middle deltoid pain following repeated abduction in participants with fibromyalgia. Electromyographic analysis showed no evidence of objective muscle fatigue, suggesting that there might be a partial disconnection between the perception of muscle fatigue and the physiological biomarkers associated with muscle fatigue.
PubMed: 38751494
DOI: 10.3389/fpain.2024.1328796 -
JIMD Reports May 2024Three forms of muscular dystrophy-dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain-containing protein...
Three forms of muscular dystrophy-dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain-containing protein (), fukutin-related protein (), and fukutin () genes. The aforementioned enzymes are required for generation of the ribitol phosphate linkage in the O-glycan of alpha-dystroglycan. Mild cases of dystroglycanopathy present with slowly progressive muscle weakness, while in severe cases the eyes and brain are also involved. Previous research showed that ribose increased the intracellular concentrations of cytidine diphosphate-ribitol (CDP-ribitol) and had a therapeutic effect. Here, we report the safety and effects of oral ribose supplementation during 6 months in a patient with limb girdle muscular dystrophy type 2I (LGMD2I) due to a homozygous mutation. Ribose was well tolerated in doses of 9 g or 18 g/day. Supplementation with 18 g of ribose resulted in a decrease of creatine kinase levels of 70%. Moreover, metabolomics showed a significant increase in CDP-ribitol levels with 18 g of ribose supplementation ( < 0.001). Although objective improvement in clinical and patient-reported outcome measures was not observed, the patient reported subjective improvement of muscle strength, fatigue, and pain. This case study indicates that ribose supplementation in patients with dystroglycanopathy is safe and highlights the importance for future studies regarding its potential effects.
PubMed: 38736632
DOI: 10.1002/jmd2.12394 -
International Journal of Molecular... Apr 2024Mutations in the gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal...
Mutations in the gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable age of onset and disease severity. This variability has been attributed to genetic background differences among individuals; however, such variants have not been well characterized. To identify such variants, we investigated a multigeneration family in which affected individuals are diagnosed with LGMD1B. The primary genetic cause of LGMD1B in this family is a dominant mutation that activates a cryptic splice site, leading to a five-nucleotide deletion in the mature mRNA. This results in a frame shift and a premature stop in translation. Skeletal muscle biopsies from the family members showed dystrophic features of variable severity, with the muscle fibers of some family members possessing cores, regions of sarcomeric disruption, and a paucity of mitochondria, not commonly associated with LGMD1B. Using whole genome sequencing (WGS), we identified 21 DNA sequence variants that segregate with the family members possessing more profound dystrophic features and muscle cores. These include a relatively common variant in (). This variant was given priority because another mutation in causes autosomal dominant centronuclear myopathy-4, which causes cores in addition to centrally positioned nuclei. Therefore, we analyzed muscle biopsies from family members and discovered that those with both the mutation and the variant contain muscle cores that accumulated both CCDC78 and RyR1. Muscle cores containing mislocalized CCDC78 and RyR1 were absent in the less profoundly affected family members possessing only the mutation. Taken together, our findings suggest that a relatively common variant in can impart profound muscle pathology in combination with a mutation and accounts for variability in skeletal muscle disease phenotypes.
Topics: Humans; Lamin Type A; Male; Female; Muscle, Skeletal; Pedigree; Adult; Muscular Dystrophies, Limb-Girdle; Mutation; Middle Aged; Muscle Proteins
PubMed: 38732148
DOI: 10.3390/ijms25094930 -
Homozygosity of a Founder Variant c.1508dupC in Causes Congenital Myasthenia With Variable Severity.Neurology. Genetics Jun 2024Description of 15 patients with the same variant in causing congenital myasthenic syndrome (CMS).
BACKGROUND AND OBJECTIVES
Description of 15 patients with the same variant in causing congenital myasthenic syndrome (CMS).
METHODS
Nine adult and 6 pediatric patients were studied with molecular genetic and clinical investigations.
RESULTS
All patients were identified with the c.1508dupC variant in , of whom 13 were homozygous and 2 patients compound heterozygous. Only 2 patients had limb girdle phenotype, while all adult patients also had ptosis, ophthalmoplegia, facial weakness, as well as inspiratory stridor. Pediatric patients had severe respiratory insufficiency and feeding difficulties at birth.
DISCUSSION
The disease severity in our patients varied extensively from ventilator or wheelchair dependence to mild facial weakness, ptosis, and ophthalmoparesis. Most of the patients had normal transmission in conventional 3 Hz stimulation electrophysiologic studies, making the diagnosis of CMS challenging. Our cohort of adult and pediatric patients expands the phenotype of DOK7 CMS and shows the importance of correct and early diagnosis.
PubMed: 38725677
DOI: 10.1212/NXG.0000000000200155 -
RMD Open May 2024Non-synovial inflammation as detected by MRI is characteristic in polymyalgia rheumatica (PMR) with potentially high diagnostic value.
BACKGROUND
Non-synovial inflammation as detected by MRI is characteristic in polymyalgia rheumatica (PMR) with potentially high diagnostic value.
OBJECTIVE
The objective is to describe inflammatory MRI findings in the shoulder girdle of patients with PMR and discriminate from other causes of shoulder girdle pain.
METHODS
Retrospective study of 496 contrast-enhanced MRI scans of the shoulder girdle from 122 PMR patients and 374 non-PMR cases. Two radiologists blinded to clinical and demographic information evaluated inflammation at six non-synovial plus three synovial sites for the presence or absence of inflammation. The prevalence of synovial and non-synovial inflammation, both alone and together with clinical information, was tested for its ability to differentiate PMR from non-PMR.
RESULTS
A high prevalence of non-synovial inflammation was identified as striking imaging finding in PMR, in average 3.4±1.7, mean (M)±SD, out of the six predefined sites were inflamed compared with 1.1±1.4 (M±SD) in non-PMR group, p<0.001, with excellent discriminatory effect between PMR patients and non-PMR cases. The prevalence of synovitis also differed significantly between PMR patients and non-PMR cases, 2.5±0.8 (M±SD) vs 1.9±1.1 (M±SD) out of three predefined synovial sites, but with an inferior discriminatory effect. The detection of inflammation at three out of six predefined non-synovial sites differentiated PMR patients from controls with a sensitivity/specificity of 73.8%/85.8% and overall better performance than detection of synovitis alone (sensitivity/specificity of 86.1%/36.1%, respectively).
CONCLUSION
Contrast-enhanced MRI of the shoulder girdle is a reliable imaging tool with significant diagnostic value in the assessment of patients suffering from PMR and differentiation to other conditions for shoulder girdle pain.
Topics: Humans; Polymyalgia Rheumatica; Magnetic Resonance Imaging; Female; Male; Aged; Retrospective Studies; Middle Aged; Synovitis; Aged, 80 and over; Inflammation; Shoulder; Diagnosis, Differential; Sensitivity and Specificity
PubMed: 38724260
DOI: 10.1136/rmdopen-2024-004169 -
Current Opinion in Pharmacology May 2024Sarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscular dystrophies. They are caused by mutations in the genes coding... (Review)
Review
Sarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscular dystrophies. They are caused by mutations in the genes coding for α-, β-, γ-, and δ-sarcoglycan. The mutations impair the assembly of a key structural complex, which normally protects the sarcolemma of striated muscle from contraction-derived stress. Although heterogeneous, sarcoglycanopathies are characterized by progressive muscle degeneration, increased serum creatine kinase levels, loss of ambulation often during adolescence, and variable cardio-respiratory impairment. Genetic defects can impair sarcoglycan synthesis or produce a protein that is defective in folding. There is currently no effective treatment available; however, both gene replacement strategy and small molecule-based approaches show great promise and have entered or are starting to enter clinical trials.
PubMed: 38713975
DOI: 10.1016/j.coph.2024.102459 -
Sports (Basel, Switzerland) Mar 2024In 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....
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 ( < 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.
PubMed: 38668565
DOI: 10.3390/sports12040097 -
Journal of Orthopaedic Surgery and... Apr 2024Debates persist over optimal pelvic girdle reconstruction after acetabular tumor resection, with surgeons grappling between modular and 3D-printed hemipelvic... (Comparative Study)
Comparative Study
Biomechanical and clinical outcomes of 3D-printed versus modular hemipelvic prostheses for limb-salvage reconstruction following periacetabular tumor resection: a mid-term retrospective cohort study.
BACKGROUND
Debates persist over optimal pelvic girdle reconstruction after acetabular tumor resection, with surgeons grappling between modular and 3D-printed hemipelvic endoprostheses. We hypothesize superior outcomes with 3D-printed versions, yet scarce comparative research exists. This study fills the gap, examining biomechanics and clinical results retrospectively.
METHODS
From February 2017 to June 2021, we retrospectively assessed 32 patients undergoing en bloc resection for malignant periacetabular tumors at a single institution.
PRIMARY OUTCOME
limb function.
SECONDARY OUTCOMES
implant precision, hip joint rotation center restoration, prosthesis-bone osteointegration, and complications. Biomechanical characteristics were evaluated through finite element analysis on pelvic defect models.
RESULTS
In the 3D-printed group, stress distribution mirrored a normal pelvis, contrasting the modular group with elevated overall stress, unstable transitions, and higher stress peaks. The 3D-printed group exhibited superior functional scores (MSTS: 24.3 ± 1.8 vs. 21.8 ± 2.0, p < 0.05; HHS: 79.8 ± 5.2 vs. 75.3 ± 3.5, p < 0.05). Prosthetic-bone interface osteointegration, measured by T-SMART, favored 3D-printed prostheses, but surgery time (426.2 ± 67.0 vs. 301.7 ± 48.6 min, p < 0.05) and blood loss (2121.1 ± 686.8 vs. 1600.0 ± 505.0 ml, p < 0.05) were higher.
CONCLUSIONS
The 3D-printed hemipelvic endoprosthesis offers precise pelvic ring defect matching, superior stress transmission, and function compared to modular endoprostheses. However, complexity, fabrication expertise, and challenging surgical implantation result in prolonged operation times and increased blood loss. A nuanced consideration of functional outcomes, complexity, and patient conditions is crucial for informed treatment decisions.
LEVEL OF EVIDENCE
Level III, therapeutic study (Retrospective comparative study).
Topics: Humans; Retrospective Studies; Printing, Three-Dimensional; Female; Male; Acetabulum; Middle Aged; Bone Neoplasms; Adult; Biomechanical Phenomena; Limb Salvage; Treatment Outcome; Plastic Surgery Procedures; Prosthesis Design; Cohort Studies; Aged; Young Adult; Time Factors
PubMed: 38654343
DOI: 10.1186/s13018-024-04697-w -
Nature Communications Apr 2024DNAJB6b is a molecular chaperone of the heat shock protein network, shown to play a crucial role in preventing aggregation of several disease-related intrinsically...
DNAJB6b is a molecular chaperone of the heat shock protein network, shown to play a crucial role in preventing aggregation of several disease-related intrinsically disordered proteins. Using homology modeling and microsecond-long all-atom molecular dynamics (MD) simulations, we show that monomeric DNAJB6b is a transiently interconverting protein cycling between three states: a closed state, an open state (both abundant), and a less abundant extended state. Interestingly, the reported regulatory autoinhibitory anchor between helix V in the G/F region and helices II/III of the J-domain, which obstructs the access of Hsp70 to the J-domain remains present in all three states. This possibly suggests a mechanistically intriguing regulation in which DNAJB6b only becomes exposed when loaded with substrates that require Hsp70 processing. Our MD results of DNAJB6b carrying mutations in the G/F region that are linked to limb-girdle muscular dystrophy type D1 (LGMDD1) show that this G/F region becomes highly dynamic, pointing towards a spontaneous release of the autoinhibitory helix V from helices II/III. This would increase the probability of non-functional Hsp70 interactions to DNAJB6b without substrates. Our cellular data indeed confirm that non-substrate loaded LGMDD1 mutants have aberrant interactions with Hsp70.
Topics: Humans; Molecular Chaperones; HSP70 Heat-Shock Proteins; Heat-Shock Proteins; Molecular Dynamics Simulation; Molecular Conformation; Muscular Dystrophies, Limb-Girdle; HSP40 Heat-Shock Proteins
PubMed: 38627370
DOI: 10.1038/s41467-024-46587-z