Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia / RYR1 myopathies in childhood: phenotype-genotype correlation and incidence

Introducción: Las miopatías relacionadas con el receptor de rianodina de tipo 1 (RYR1-RM) constituyen la categoría más frecuente de miopatías congénitas. La introducción de técnicas genéticas ha cambiado el paradigma diagnóstico y sugiere la prioridad de estudios moleculares sobre biopsias. Este estudio busca explorar las características clinicoepidemiológicas de pacientes con variantes del gen RYR1 en un hospital pediátrico de tercer nivel con el objetivo de ampliar la comprensión de la correlación genotipo-fenotipo en las RYR1-RM. Pacientes y métodos: Estudio observacional, descriptivo y transversal, de pacientes menores de 14 años con síntomas miopáticos y variantes potencialmente patógenas del gen RYR1 entre enero de 2013 y diciembre de 2023, considerando variables como sexo, edad, desarrollo motor, variantes genéticas, patrón de herencia y otras manifestaciones. Todas las variables fueron tabuladas frente a la variante genética. Resultados: De los nueve pacientes incluidos, la incidencia estimada fue de aproximadamente 1/10.000 nacidos vivos. La mediana en el momento del diagnóstico fue de 6 años, con una variabilidad fenotípica significativa. Se observaron síntomas comunes, como debilidad y retraso del desarrollo motor. Las variantes genéticas afectaron al gen RYR1 de manera diversa, y hubo cinco variantes previamente no descritas. La biopsia muscular se realizó en cinco pacientes, en dos de ellos de tipo miopatía central core; en uno, multiminicore; en uno, desproporción congénita de fibras; y en otro, de patrón inespecífico. Conclusiones: Las RYR1-MR de nuestra serie ofrecieron variabilidad fenotípica y de afectación, con una incidencia en nuestra área de en torno a 1/10.000 recién nacidos. La mayoría de los casos fueron varones, de variantes missense dominantes. Aportamos cinco variantes genéticas no descritas con anterioridad.(AU)

Introduction: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting the prioritization of molecular studies over biopsies. This study aims to explore the clinical and epidemiological characteristics of patients with RYR1 gene variants in a tertiary pediatric hospital, intending to enhance the understanding of the genotype-phenotype correlation in RYR1-RM. Patients and methods: An observational, descriptive, and cross-sectional study was conducted on patients under 14 years old with myopathic symptoms and potentially pathogenic RYR1 gene variants from January 2013 to December 2023. Variables such as gender, age, motor development, genetic variants, inheritance pattern, and other manifestations were considered. All variables were tabulated against the genetic variant. Results: Of the nine included patients, the estimated incidence was approximately 1 in 10,000 live births. The median age at diagnosis was six years, with significant phenotypic variability. Common symptoms such as weakness and delayed motor development were observed. Genetic variants affected the RYR1 gene diversely, including five previously undescribed variants. Muscle biopsy was performed in five patients, revealing central core myopathy in two, multiminicore in one, congenital fiber-type disproportion in one, and a nonspecific pattern in another.(AU)

Botox in below knee amputation for the management of post-operative contracture: a systematic review.

During the 1970s, scientists first used botulinum toxin to treat strabismus. While testing on monkeys, they noticed that the toxin could also reduce wrinkles in the glabella area. This led to its widespread use in both medical and cosmetic fields. The objective of the study was to evaluate the potential use of Botox in managing post-operative contracture after below-knee amputation. We conducted a systematic review In Pubmed, Cochrane Library, Embase, and Google Scholar using the MESH terms Botox, botulinum toxin, post-operative contracture, amputation, and below knee amputation. Our goal was to evaluate the potential use of Botox to manage post-operative contracture in patients who have undergone below-knee amputation. Our findings show evidence in the literature that Botox can effectively manage stump hyperhidrosis, phantom pain, and jumping stump, but no clinical trial has been found that discusses the use of Botox for post-operative contracture. Botox has been used in different ways to manage spasticity. Further studies and clinical trials are needed to support the use of Botox to manage this complication.

Mechanism of action of nadofaragene firadenovec-vncg.

Effective bladder-preserving therapeutic options are needed for patients with bacillus Calmette-Guérin unresponsive non-muscle-invasive bladder cancer. Nadofaragene firadenovec-vncg (Adstiladrin®) was approved by the US Food and Drug Administration as the first gene therapy in urology and the first intravesical gene therapy indicated for the treatment of adult patients with high-risk bacillus Calmette-Guérin-unresponsive non-muscle-invasive bladder cancer with carcinoma in situ with or without papillary tumors. The proposed mechanism of action underlying nadofaragene firadenovec efficacy is likely due to the pleiotropic nature of interferon-α and its direct and indirect antitumor activities. Direct activities include cell death and the mediation of an antiangiogenic effect, and indirect activities are those initiated through immunomodulation of the innate and adaptive immune responses. The sustained expression of interferon-α that results from this treatment modality contributes to a durable response. This review provides insight into potential mechanisms of action underlying nadofaragene firadenovec efficacy.

Association between cognitive function and skeletal muscle in patients undergoing maintenance hemodialysis.

Background: Patients on hemodialysis have a higher burden of cognitive impairment than individuals of the same age in the general population. Studies have found a link between cognition and skeletal muscle function. However, few studies have investigated these associations and the underlying mechanisms in patients on hemodialysis. Methods: A total of 166 patients on hemodialysis were enrolled in this longitudinal study. Cognitive function was assessed by Montreal Cognitive Assessment (MoCA) scores. Skeletal muscle indicators were evaluated using Inbody S10. Plasma brain-derived neurotrophic factor (BDNF) concentrations were measured by enzyme-linked immunosorbent assay. The primary outcome was a change in the MoCA scores. A mediation analysis was performed to examine the indirect effect of skeletal muscle on cognitive decline through BDNF. Results: Among the 166 patients, the average age was 49.9 ± 11.2 years. Of these patients with a median follow-up of 1,136 days, 133 participated in the study. We defined MoCA scores decreased by ≥2 points at 3 years from the baseline measurement as cognitive decline (CD). Compared to the cognitively unchanged group, patients with CD had significantly lower fat-free mass, soft lean mass, skeletal muscle mass, and skeletal muscle index (all P<0.05). After adjusting for potential confounders, skeletal muscle indicators were protective predictors of CD. A significant increase in plasma BDNF levels was observed in the CD group. Mediation analysis suggested that BDNF played a mediating role of 20-35% between cognitive impairment and skeletal muscle. Conclusion: Skeletal muscle is a protective predictor of CD in patients undergoing dialysis. BDNF mediates the relationship between cognitive impairment and skeletal muscle function.

Piriformis syndrome as an overlooked cause of pain in a patient with axial spondyloarthritis: a case report.

Piriformis syndrome is a neuromuscular disorder characterized by hip, buttock, and leg pain. Axial spondyloarthritis is a rheumatic disease primarily affecting the sacroiliac joint and the spine. Due to their anatomical proximity, the potential relationship between piriformis syndrome and sacroiliitis has been discussed for some time. However, literature review revealed that there is no study on piriformis syndrome in individuals with axial spondyloarthritis. Here, we present the case of a 30-year-old female with axial spondyloarthritis who developed severe low back, hip, and buttock pain that persisted despite initial treatment for axial spondyloarthritis. We first re-evaluated her condition through physical examination, magnetic resonance imaging, and an injection test for piriformis syndrome. Following a comprehensive assessment, the patient was diagnosed with both axial spondyloarthritis and piriformis syndrome. Subsequently, a tailored treatment plan was devised, addressing both conditions, and after a 3-month course of treatment, we obtained significant reduction in pain of the patient. This is the first case report in literature, where we used injection test to confirm the diagnosis of the piriformis syndrome in a patient with axial spondyloarthritis. We therefore strongly advocate considering piriformis syndrome as a potential etiology for pain in individuals with axial spondyloarthritis consistently. This recognition is important as piriformis syndrome does not respond adequately to non-steroidal anti-inflammatory drugs and may lead to unnecessary use of biological disease-modifying antirheumatic drugs. Timely identification and intervention are imperative in ensuring optimal patient care.

Improving wheelchair user sitting posture to alleviate lumbar fatigue: a study utilizing sEMG and pressure sensors.

Background: The wheelchair is a widely used rehabilitation device, which is indispensable for people with limited mobility. In the process of using a wheelchair, they often face the situation of sitting for a long time, which is easy to cause fatigue of the waist muscles of the user. Therefore, this paper hopes to provide more scientific guidance and suggestions for the daily use of wheelchairs by studying the relationship between the development of muscle fatigue and sitting posture. Methods: First, we collected surface Electromyography (sEMG) of human vertical spine muscle and analyzed it in the frequency domain. The obtained Mean Power Frequency (MPF) was used as the dependent variable. Then, the pose information of the human body, including the percentage of pressure points, span, and center of mass as independent variables, was collected by the array of thin film pressure sensors, and analyzed by a multivariate nonlinear regression model. Results: When the centroid row coordinate of the cushion pressure point is about 16(range, 7.7-16.9), the cushion pressure area percentage is about 80%(range, 70.8%-89.7%), and the cushion pressure span range is about 27(range, 25-31), the backrest pressure point centroid row coordinate is about 15(range, 9.1-18.2), the backrest pressure area percentage is about 35%(range, 11.8%-38.7%), and the backrest pressure span range is about 16(range, 9-22). At this time, the MPF value of the subjects decreased by a small percentage, and the fatigue development of the muscles was slower. In addition, the pressure area percentage at the seat cushion is a more sensitive independent variable, too large or too small pressure area percentage will easily cause lumbar muscle fatigue. Conclusion: The results show that people should sit in the middle and back of the seat cushion when riding the wheelchair, so that the Angle of the hip joint can be in a natural state, and the thigh should fully contact the seat cushion to avoid the weight of the body concentrated on the buttocks; The back should be fully in contact with the back of the wheelchair to reduce the burden on the waist, and the spine posture can be adjusted appropriately according to personal habits, but it is necessary to avoid maintaining a chest sitting position for a long time, which will cause the lumbar spine to be in an unnatural physiological Angle and easily lead to fatigue of the waist muscles.

Fibulin-1 promotes intimal hyperplasia after venous stent implantation through ACE mediated angiotensin II signaling.

Objective: Stent intimal hyperplasia leads to in stent restenosis and thrombosis. This study determined whether Fibulin-1 activity in smooth muscle cells (SMCs) contributes to stent restenosis or thrombosis. Methods: Stent implantation was conducted in a pig model. Target vessel samples were stained and analyzed by protein mass spectrometry. Cell experiments and Fibulin-1 SMC specific knockout mice (Fbln1SMKO) were used to investigate the mechanism of Fibulin-1 induced SMC proliferation and thrombosis. Results: SMC proliferation and phenotypic transition are the main pathological changes of intimal hyperplasia in venous stents. Protein mass spectrometry analysis revealed a total of 67 upregulated proteins and 39 downregulated proteins in intimal hyperplasia after stent implantation compared with normal iliac vein tissues. Among them, Fibulin-1 ranked among the top proteins altered. Fibulin-1 overexpressing human SMCs (Fibulin-1-hSMCs) showed increased migration and phenotypic switching from contractile to secretory type and Fibulin-1 inhibition decreased the activity of SMCs. Mechanistically, Fibulin-1-hSMCs displayed increased levels of angiotensin converting enzyme (ACE) expression and angiotensin II signaling. Inhibition of ACE or angiotensin II signaling alleviated the migration of Fibulin-1-hSMCs. Using Fibulin-1 SMC specific knockout mice (Fbln1SMKO) and venous thrombosis model, we demonstrated that Fibulin-1 deletion attenuated intimal SMCs proliferation and thrombosis. Further, Fibulin-1 concentration was high in iliac vein compression syndrome (IVCS) patients treated with stent and was an independent predictor of venous insufficiency. Conclusions: Fibulin-1 promotes SMC proliferation partially through ACE secretion and angiotensin II signaling after stent implantation. Fibulin-1 plays a role in venous insufficiency syndrome, implicating the protein in the detection and treatment of IVCS.

Discovery of a Novel Yadav-Kunal Reflex in Context of Upper Motor Neuron Lesions: A Report of Three Cases.

Introduction: Numerous reflexive responses have been documented as alterations to the Babinski sign within upper motor neuron lesions. However, scant attention has been given to reflexes beyond these, which exhibit independence from the extensor plantar response. These reflexes predominantly form polysynaptic arcs, with nociceptive stimuli acting as afferents. Case Report: The reflex was serendipitously discovered in an 18-year-old female patient who presented with spastic paraplegia with bowel and bladder involvement, as a consequence of an aneurysmal bone cyst of the D3 (dorsal) vertebrae, and the same was named after the authors as "Yadav-Kunal reflex" which can be defined as: "In individuals with spastic paraparesis, forcibly plantarflexing the toes will result in sudden jerky flexion of the knee and hip on the same side." This novel reflex was further investigated and validated in two additional patients with spastic paraplegia: one, a 45-year-old female with D9-D10 Pott's spine and bowel and bladder involvement, and the other, a 65-year-old male with D10-D11 compressive myelopathy and bowel and bladder involvement. This reflex was meticulously tracked until the abatement of spasticity following surgical intervention. Notably, its manifestation was evident in individuals experiencing spastic paraparesis, dissipating concomitantly with the resolution of spasticity - a direct clinical correlation. Conversely, the reflex was conspicuously absent in cases of flaccid paraplegia. Conclusion: Spasticity, characterized by an increase in muscle tone on swift stretching movements, is a manifestation of a stretch reflex disorder. This condition is primarily induced by lesions affecting upper motor neurons. The activation of muscle spindles in toe dorsiflexors (primarily governed by the L5 nerve) occurs during forceful elongation caused by plantarflexion.

Effect of inspiratory muscle training in children with asthma: a systematic review and meta-analysis of randomized controlled trials.

Background: Asthma is a common chronic respiratory disease in children. Alongside pharmacological interventions, inspiratory muscle training (IMT) emerges as a complementary therapeutic approach for asthma management. However, the extent of its efficacy in pediatric populations remains uncertain when compared to its benefits in adults. This systematic review aims to evaluate the effectiveness of IMT with threshold loading in children with asthma. Methods: Randomized controlled trials (RCTs) evaluating the efficacy of inspiratory muscle training in pediatric asthma patients were identified through June 2023 across various literature databases, including PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), Cumulative Index to Nursing and Allied Health Literature (CINAL), Web of Science, China Knowledge Resource Integrated Database (CNKI), Wei Pu Database, Wan Fang Database, and Chinese Biomedical Database (CBM). These trials compared inspiratory muscle training against sham inspiratory muscle training and conventional care. Eligible studies were assessed in terms of risk of bias and quality of evidence. Where feasible, data were pooled and subjected to meta-analysis, with results reported as mean differences (MDs) and 95% confidence intervals (CIs). Results: Six trials involving 333 patients were included in the analysis. IMT demonstrated significant improvements in maximum inspiratory pressure (MIP) (MD 25.36, 95% CI 2.47-48.26, P = 0.03), maximum expiratory pressure (MEP) (MD 14.72, 95% CI 4.21-25.24, P = 0.006), forced vital capacity in percent predicted values [FVC(% pred)] (MD 3.90, 95% CI 1.86-5.93, P = 0.0002), forced expiratory volume in the first second in percent predicted values [FEV1(% pred)] (MD 4.96, 95% CI 2.60-7.32, P < 0.0001), ratio of forced expiratory volume in 1 s to forced vital capacity (FEV1/FVC) (MD 4.94, 95% CI 2.66-7.21, P < 0.0001), and asthma control test (ACT) (MD = 1.86, 95% CI: 0.96-2.75, P < 0.0001). Conclusions: Findings from randomized controlled trials indicate that inspiratory muscle training enhances respiratory muscle strength and pulmonary function in pediatric asthma patients. Systematic Review Registration: www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023449918, identifier: CRD42023449918.

Anatomy and Deficiency of the Deltoid Muscle: A Review of Literature.

BACKGROUND/OBJECTIVE: The deltoid muscle is impacted by common injuries and clinical procedures. This study aims to summarize the anatomy, injuries, and clinical considerations involving the deltoid muscle. METHOD: A literature search was performed using PubMed and Google Scholar using keywords that focused on the deltoid muscle in the shoulder. Primary research articles and appropriate summary articles were selected for review. RESULTS: Reduced deltoid muscle function can be caused by axillary nerve injury, rupture of the deltoid itself, or iatrogenic damage to the muscle. The deltoid muscle has an intimate relationship with the axillary nerve and neighboring rotator cuff muscles. Injury to these nearby structures may be masked by compensating deltoid strength. Examination maneuvers in clinic such as the Akimbo Test should be used to isolate the deltoid muscle to determine if the presenting weakness is from the deltoid itself or from other surrounding injury. Additionally, prior to performing clinical procedures, it is important to be cognitive of the injuries that can occur. For example, incisions that extend distally from the acromion should not extend beyond 5-7 cm as this is the common location of the axillary nerve and vaccine administration should take measures to avoid misplaced injections to avoid unnecessary trauma. CONCLUSION: Deficiency of the deltoid muscle can be debilitating to patients and it is best clinical practice be aware of the anatomy, various causes, tests, and avoidance measures to help diagnose, restore or preserve normal functioning.

Short-term reduction of ankle spasticity after surgical lengthening of the triceps surae in chronic post-stroke patients: a retrospective cohort study.

Introduction: In post-stroke patients with equinovarus foot deformity (EVFD), soft tissue rearrangements may contribute to muscle overactivity when a muscle is stretched or tension is applied. Therefore, we investigated the effects of surgically restoring the triceps surae (TS) length and lengthening ability on TS spasticity. Methods: This retrospective study included chronic post-stroke patients who underwent neuro-orthopedic surgery inclusive of TS lengthening. TS spasticity was measured using the Modified Tardieu Scale (MTS) before and 1 month after surgery, both with the knee extended (KE) and flexed (KF). MTS variations were analyzed using the Wilcoxon test. The time from stroke onset was compared between patients with and without post-surgical spasticity using the t-test. Statistical significance was set at 5%. Results: A total of 120 patients with EVFD, aged 57 (12) years, ranging from 1 to 36 years from stroke, were included in the study. The median MTS_KE score significantly decreased from 3 (range 0-4) to 2 (0-4) (p < 0.001) after surgery. The MTS score decreased by ≥1 point in more than half of the sample. Notably, 19 and 32 patients were completely relieved from spasticity (MTS = 0) in the KE and KF conditions, respectively. Post-surgical spasticity did not depend on the time since stroke onset (p = 0.560). Discussion: TS lengthening led to a short-term reduction of spasticity in 41% and 63% of chronic post-stroke patients in the gastro-soleus complex and soleus, respectively, with complete relief observed in 21% and 30% of the sample. Surgical lengthening can be considered an effective treatment that not only restores joint range of motion but also may reduce spasticity, even in chronic patients.

Effectiveness of palpation technique training and practice using a muscle-nodule-palpation simulator.

[Purpose] Extant techniques for palpating nodules, a diagnostic criterion of myofascial trigger points, lack high reliability. Therefore, this study aimed to investigate the effects of training and practice using a novel muscle-nodule-palpation simulator. [Participants and Methods] Sixteen university students (age range: 19-22 years) were randomly assigned to the training (n=8) and control (n=8) groups and used the muscle-nodule-palpation simulator to determine the position and orientation of the muscle nodule embedded in the model. During the experiment, only the participants in the training group were allowed to practice nodule detection while viewing the model through its transparent material. Subsequently, both groups underwent a performance evaluation. [Results] The training group exhibited greater improvement in performance than the control group. The means and standard errors of the improvement in the proportion of successful localization of the muscle nodule were 0.14 ± 0.06 for the control group and 0.42 ± 0.09 for the training group. [Conclusion] Training using the muscle-nodule-palpation simulator improved palpation technique for nodule localization.

Shizukaol C alleviates trimethylamine oxide-induced inflammation through activating Keap1-Nrf2-GSTpi pathway in vascular smooth muscle cell.

BACKGROUND: Cardiovascular disease is one of the main causes of global mortality, and there is an urgent need for effective treatment strategies. Gut microbiota-dependent metabolite trimethylamine-N-oxide (TMAO) promotes the development of cardiovascular diseases, and shizukaol C, a natural sesquiterpene isolated from Chloranthus multistachys with various biological activities, might exhibit beneficial role in preventing TMAO-induced vascular inflammation. PURPOSE: The purpose of this study was to investigate the anti-inflammatory effects and the underlying mechanisms of shizukaol C on TMAO-induced vascular inflammation. METHODS: The effect and underlying mechanism of shizukaol C on TMAO-induced adhesion molecules expression, bone marrow-derived macrophages (BMDM) adhesion to VSMC were evaluated by western blot, cell adhesion assay, co-immunoprecipitation, immunofluorescence assay, and quantitative Real-Time PCR, respectively. To verify the role of shizukaol C in vivo, TMAO-induced vascular inflammation model were established using guidewire-induced injury on mice carotid artery. Changes in the intima area and the expression of GSTpi, VCAM-1, CD68 were examined using haematoxylin-eosin staining, and immunofluorescence assay. RESULTS: Our data demonstrated that shizukaol C significantly suppressed TMAO-induced adhesion molecule expression and the bone marrow-derived macrophages (BMDM) adhesion in vascular smooth muscle cells (VSMC). Mechanically, shizukaol C inhibited TMAO-induced c-Jun N-terminal kinase (JNK)-nuclear factor-kappa B (NF-κB)/p65 activation, and the JNK inhibition was dependent on the shizukaol C-mediated glutathione-S-transferase pi (GSTpi) expression. By further molecular docking and protein-binding analysis, we demonstrated that shizukaol C directly binds to Keap1 to induce Nrf2 nuclear translocation and upregulated GSTpi expression. Consistently, our in vivo experiment showed that shizukaol C elevated the expression level of GSTpi in carotid arteries and alleviates TMAO-induced vascular inflammation. CONCLUSION: Shizukaol C exerts anti-inflammatory effects in TMAO-treated VSMC by targeting Keap1 and activating Nrf2-GSTpi signaling and resultantly inhibits the downstream JNK-NF-κB/p65 activation and VSMC adhesion, and alleviates TMAO-induced vascular inflammation in vivo, suggesting that shizukaol C may be a potential drug for treating TMAO-induced vascular diseases.

Reducing Airway Occlusion Time Without Losing Accuracy to Predict Successful Mechanical Ventilator Liberation During the Measurement of the Timed Inspiratory Effort Index.

BACKGROUND: In 2013, a new predictor of successful mechanical ventilation liberation named timed inspiratory effort (TIE) index was devised with the normalization of the maximum inspiratory pressure (obtained within 60 s of unidirectional airway occlusion) with the time at which the value was reached. The aim of this study was to verify whether the presence of a sequence of a certain number of inspiratory effort values between 30-60 s > 1.0 cm H2O/s could predict weaning success in a performance comparable to the TIE index. METHODS: This was a retrospective observational study using 4 databases of previous studies on the TIE index. All patients receiving mechanical ventilation for ≤ 24 h were eligible. Liberation from mechanical ventilation-extubation decisions was made based on performance with spontaneous breathing trials. P < .05 was considered significant. The performance of the TIE index was evaluated by calculating the area under the receiver operating characteristics (AUROC) curve. RESULTS: From 349 eligible patients, 165 subjects were selected for analysis. The AUROC for the TIE index in the studied sample was 0.92 (95% CI 0.87-0.97, P < .001). A sequence of ≤ 4 inspiratory efforts > 1.0 cm H2O/s was found in 51.5% of the subjects, with successful ventilatory liberation occurring in 95.3%. The highest specificity values belonged to the sequence of ≤ 4 and ≤ 5 inspiratory efforts > 1.0 cm H2O/s; the highest positive predictive value and positive likelihood ratio belonged to the sequence of ≤ 4 inspiratory efforts > 1.0 cm H2O/s. The mean time that could have been spared if the procedure were interrupted after the first sequence of 4 inspiratory efforts > 1.0 cm H2O/s was 23 ± 3 s. CONCLUSIONS: The presence of a sequence of ≤ 4 inspiratory efforts > 1.0 cm H2O/s during the TIE index measurement was a reliable predictor of weaning success, which could allow timely interruption of the procedure and entail a substantial reduction in airway occlusion time.

Is sarcopenia a real concern in ankylosing spondylitis? A systematic literature review.

PURPOSE: Sarcopenia is a condition defined as loss of muscle mass and strength, associated with poor functional performance and disability. Sarcopenia can be exacerbated or worsened in presence of inflammation, sedentary lifestyle and cytokine imbalance, thus it frequently occurs in people affected by rheumatic diseases. This systematic literature review aims to explore the association between sarcopenia and spondyloarthritis (SpA) and its most frequent manifestation, i.e. ankylosing spondylitis (AS). METHODS: The Scopus, PubMed, and Web of Science databases were searched for articles on muscle mass, muscle strength and axial SpA, from any date to November 2023. Only studies written in English were considered. The methodological quality of the studies included in the review was evaluated using the Newcastle-Ottawa Scales for observational studies and for case-control studies. RESULTS: 190 papers were retrieved from the searches, 14 of which met the inclusion criteria. Rather than diagnosis of sarcopenia, pre-sarcopenia or probable sarcopenia were frequent in people with AS, with a great reduction especially of muscle strength. The pre-sarcopenia status appears to be related to high AS disease activity, suggesting that chronic inflammation resulting in pain, less movement and decreased physical activity could play a role in the muscle heath of AS patients. CONCLUSIONS: Our review confirms the existence of an association between AS and loss of muscle strength-likely sarcopenia-already at a young age. Preventive and early strategies should be adopted to ensure successful aging for individuals with AS.

Why don't women engage in muscle strength exercise? An integrative review.

ISSUE ADDRESSED: Women are 'at-risk' population for failing to meet muscle strengthening guidelines. Health benefits specific to this exercise mode include maintenance of muscle mass, which is associated with reduced risk of chronic disease and falls. Of significance is the progressive decline in muscle strength exercise participation in women aged 35-54 in Australia. This period is critical for maintaining muscle strength as it establishes foundations for older women's engagement. This integrative review examined available evidence regarding factors influencing muscle strength exercise participation, specifically in women aged 35-54. METHODS: Seven databases were searched. Study inclusion criteria were: (1) peer reviewed, (2) English language, (3) sample populations of healthy female adults or general adult sample population differentiating females from males, (4) mean age between 35 and 54 years, (5) focused on muscle strength exercise and measured as the primary outcome factors of participation in muscle strength exercise. FINDINGS: Five of 1895 studies met inclusion criteria. Five key factors were associated with participation in muscle strength exercise of women aged 35-54 years: perceived time constraints; knowledge and education; modality and intensity; social support and behavioural strategies. CONCLUSIONS: Focused education on strength exercise and guidelines, plus initiatives and strategies that suit the needs of this cohort, are necessary to achieve health and wellbeing benefits. Responsive approaches by health professionals to these women's circumstances can potentially address current low participation levels. SO WHAT?: Creating conditions where health professionals respect a woman's exercise preferences can positively impact these women's musculoskeletal health into older age.

Association of Muscle Strength, Psychological Factors, and Central Sensitization With Movement-Evoked Pain in Patients With Nonspecific Chronic Low Back Pain: The BACKFIT Project.

BACKGROUND: People with chronic pain might evade certain movements to prevent their experience of pain. Movement-evoked pain (MEP) might induce lower functionality during daily activities. HYPOTHESIS: (1) MEP after physical fitness tests would vary depending on the main musculature involved in the test; (2) physical and psychological factors would be associated with MEP in patients with NSCLBP. STUDY DESIGN: Cross-sectional design. LEVEL OF EVIDENCE: Level 3. METHODS: A total of 104 (69 women) patients aged 51.0 ± 10.3 years with NSCLBP participated. MEP was measured with a visual analog scale (VAS) at baseline and immediately after performing each physical fitness test, that is, the Biering-Sørensen, prone bridging, handgrip, chair-stand, and 8-foot time-up-and-go tests, measuring back extensor, back flexor, upper- and lower-body muscle strength, and motor agility, respectively. Global muscle strength was calculated with normalized index (z-score) procedure. Depression, anxiety, pain catastrophizing, and central sensitization were assessed with the Beck Depression Inventory II, State Trait Anxiety Inventory I, Pain Catastrophizing Scale, and Central Sensitization Inventory (CSI), respectively. RESULTS: Patients showed greater pain after completion of the Biering-Sørensen (mean difference 95% CI, 0.02, 1.11), prone bridging (0.15, 1.21), lower pain after handgrip (-1.46, -0.52), and the 8-foot time-up-and-go (-1.43, 0.46) tests (all P ≤ 0.04). Lower global muscular strength (ß between -0.18 and -0.30), and greater pain catastrophizing (ß = 0.16), and CSI scoring (ß between 0.18 and 0.27) were associated with greater MEP (all P ≤ 0.04). CONCLUSION: Greater MEP was observed after tests measuring core musculature strength than after tests measuring distal (limbs) strength and agility. Greater MEP was overall associated with lower muscle strength, greater pain catastrophizing, and central sensitization. CLINICAL RELEVANCE: Fitness testing might be implemented as a complementary tool for the monitoring of NSCLBP in clinical settings.

A three-headed psoas major muscle: a case report.

BACKGROUND: Multiple anatomical variations, from anomalous courses to additional structures, have been reported in muscles from different compartments of the human body. We report an extremely rare case of a psoas major muscle presenting as a three-headed structure with variable morphology. MATERIALS AND METHODS: During a routine dissection of the posterior abdominal wall of a 82-year-old male cadaver, an anomalous PM muscle with supernumerary head was identified, photographed and subjected to further measurement. RESULTS: Although the anatomy of the dissected posterior abdominal wall structures was typical, a three-headed psoas major muscle composed of superficial, intermediate and deep heads was identified. CONCLUSIONS: It is important to be aware of morphological variability of muscles, especially those considered to be constant, since an anomalous structure might interfere not only with their functions, but also lead to further clinical consequences.

The morphological variability of the pelvic girdle muscles: a potential trap during ultrasound.

BACKGROUND: The muscles present in the pelvic girdle compartment demonstrate clinically significant anatomical variation regarding both their site of attachment and additions, such as accessory heads, muscles or tendinous slips. Many of those variations might be considered potential traps during ultrasound examination that may result in misdiagnosis. The aim of this study was to raise awareness of such possibility. MATERIALS AND METHODS: A comprehensive search for morphological variations was performed in PubMed and NIH. Relevant papers were listed and citation tracking was accomplished. RESULTS: Although several anatomical variations of pelvic girdle muscles have been presented, few studies have examined their relevance in ultrasound imaging. CONCLUSIONS: The morphological variability of the pelvic girdle muscles does not vary from such incidence in other regions of the human body; however further ultrasound studies are needed of the numerous morphological variants that can be found in this region.

The morphological variability of the piriformis muscle.

BACKGROUND: The aim of the study is to create several classifications of the piriformis muscle (PM): proximal and distal attachments, potential fusions, and the relationship with the sciatic nerve. It is the first comprehensive anatomical examination of this subject. MATERIALS AND METHODS: One hundred and twenty-four lower limbs from 62 cadavers, fixed in 10% formalin, were examined. RESULTS: The piriformis muscle was present in 120 limbs (96.8% of cases). Four types of proximal attachment were described (I-IV). The most common type was Type I, in which the proximal attachment was at the anterior surface of the sacrum, between S2 and S4 (52 lower limbs; 43.3%). The rarest type was Type IV, in which the proximal attachment was at the gluteal surface of the ilium near the margin of the greater sciatic notch and from the gluteus medius (12 cases; 10%). Three types of distal attachment were distinguished. The most common was Type 1, a single tendon. This type comprised two subtypes: A and B (105 lower limbs; 87.5%). The other two types accounted for 12.5% of the total. Fusions were noted between the piriformis muscle and adjacent muscles in 31.7%. Four patterns were observed in which the sciatic nerve ran against the piriformis muscle. The most common variation in the relationship was the common fibular nerve exiting superior to the piriformis muscle and the tibial nerve passing inferior to it (10 cases; 8.3%). CONCLUSIONS: The piriformis muscle is highly morphologically variable in both its proximal and distal attachments and its relationship with the sciatic nerve. There are four types of proximal attachment and three types of distal attachment. The piriformis muscle shows numerous fusions with its adjacent muscles: gluteus medius or minimus or superior gemellus. A new (fourth) type of relationship was demonstrated between the piriformis muscle and sciatic nerve. The piriformis muscle was absent in four cases.