European Journal of Translational Myology最新文献

I was interested to read the article by Dowling et al.1 in the European Journal of Translational Myology, where the authors provide a comprehensive review of serum biomarkers for Duchenne Muscular Dystrophy (DMD), a devastating early-onset muscle wasting disease. The emphasis of research on liquid biopsy-based approaches, with the application of Mass Spectrometry (MS)-based proteomics for the identification of novel biomarkers like carbonic anhydrase CA3, fatty acid binding protein FABP3, and titin fragments, represents a revolutionary step towards minimally invasive diagnostics. As a neurologist and clinical pharmacologist working in Uganda, where diagnosis of DMD is delayed owing to the limited access to invasive tests, I find the prospects of these biofluid-based markers not only intriguing but also of immense worth in advancing precision medicine in resource-poor settings. [...].

Human Placenta-Derived Mesenchymal Stem Cells (HP-MSCs) are recognized for their potential in treating various diseases due to their multidirectional differentiation and immunomodulatory abilities. However, the therapeutic efficacy is often compromised in ischemic and hypoxic environments. Tremella Fuciformis Polysaccharide (TFP), a natural polysaccharide known for its immunomodulatory and anti-inflammatory properties, stands a good chance of overcoming this limitation. Our study investigates whether TFP enhances the therapeutic efficacy of HP-MSCs under ischemic-hypoxic conditions by inhibiting autophagy, with a focus on the role of the ERK signaling pathway. HP-MSCs were cultured under hypoxic conditions to simulate an ischemic environment and TFP was added to investigate its effects on MSC bioactivity, apoptosis, and proliferation. Mechanistic studies were conducted to assess the activation of the ERK signaling pathway and the expression of autophagy-related markers. TFP enhanced HP-MSC bioactivity under hypoxia by reducing apoptosis and promoting proliferation. Mechanistic analysis revealed that TFP enhanced the ability of HP-MSCs to adapt to hypoxic stress by activating the ERK signaling pathway. This activation led to the inhibition of autophagy-related markers, suggesting that TFP plays a protective role in hypoxia-induced cell stress. TFP enhances the therapeutic potential of HP-MSCs in ischemic-hypoxic conditions by inhibiting autophagy through ERK signaling pathway activation. These findings provide a theoretical foundation for the use of TFP in treating lower limb ischemia and highlight its potential to improve treatment protocols and outcomes.

Dear Editor, We were interested to read the article by Maccarone et al. about a 15-year-old girl with scoliosis, growth retardation, facial dysmorphism and delayed puberty.1 Genetic testing revealed the heterozygous variant NM_002470.4(MYH3):c.326G>A (p.Arg109His) in MYH3. The patient benefited from a Lyon ARTbrace after refusing surgical correction of scoliosis.1 The study is noteworthy, but several points should be discussed. [...].

Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...].

Fracture-related hospitalizations are frequent in older adults, with recovery often extended. This study evaluated the prognostic utility of the Multidimensional Prognostic Index (MPI), Handgrip Strength (HGS), Short Physical Performance Battery (SPPB), and Geriatric Depression Scale (GDS) in predicting adverse outcomes-hospitalizations, falls, or mortality-after femoral fracture or total knee arthroplasty surgery. The methods adopted were MPI assessed frailty, SPPB measured physical performance, GDS identified depression, and HGS evaluated muscle strength. Receiver Operating Characteristic (ROC) curves determined their predictive value for adverse outcomes. The study included 206 older adults (mean age 77.5, 79.6% female). At 6 months post-surgery, significant improvements were seen in SPPB (+4.35) and HGS (+1.36 kg), with notable gains among frail patients. MPI scores declined (-0.15), and Walking Test improved (+1.92). MPI showed the strongest predictive power (AUC 0.89). Higher MPI (HR 3.47) and lower HGS (HR 0.88) were significantly associated with mortality. Male sex also increased mortality risk (HR 5.99). MPI and HGS effectively predicted adverse outcomes over 6 months, supporting their use in risk stratification for older adults' post-surgery for fractures or total knee arthroplasty surgery.

Varicoceles and their impact on sperm quality are considered one of the most common causes of male infertility. This study aims to examine the outcomes of unilateral and bilateral microsurgical varicocelectomy concerning DNA Fragmentation Index (DFI), different sperm parameters, and overall fertility. This is a cross-sectional study in which we analyzed 100 male patients who were diagnosed with varicocele by ultrasound and had a history of infertility of at least one year. Fifty patients had unilateral varicocele and 50 had bilateral varicocele (left side clinical plus right side subclinical) who underwent microsurgical varicocelectomy from March 21, 2022, to March 21, 2023. We compared the DFI before and after surgery, and fertility rates between the two groups were assessed. The median age of participants was 32 years, with a body mass index (BMI) of 25 kg/m² and an average infertility duration of 2 years. A comparative analysis revealed a statistically significant difference in the median years of infertility between the unilateral and bilateral groups before surgery (p=0.03). Both unilateral (p<0.001) and bilateral (p<0.001) microsurgical varicocelectomy significantly reduced DFI. However, the bilateral approach was better at lowering DFI than the unilateral method in microsurgical varicocelectomy (p<0.05). The pregnancy rates after surgery were 36.0% for the unilateral and 58.0% for the bilateral group; this difference was statistically significant, favoring bilateral microsurgical varicocelectomy (p=0.04). Microsurgical varicocelectomy is a viable treatment option for couples facing oligospermia, especially for those with bilateral varicoceles.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a condition characterized by altered liver function due to fatty accumulation, which can lead to liver inflammation and, in advanced stages, liver carcinoma. MASLD is closely linked to several metabolic alterations, such as obesity and insulin resistance, which directly affect skeletal muscles and contribute to the development of sarcopenia. Sarcopenia is the loss of muscle mass and strength, leading to decreased physical performance in severe stages. Skeletal muscles secrete molecules known as myokines under various conditions, such as exercise or diseases like MASLD. These myokines modulate communication between the skeletal muscle and other tissues. These myokines regulate muscle mass and, in pathological conditions, contribute to the development of sarcopenia. Emerging evidence highlights the crucial role of myokines in regulating skeletal muscle metabolism and function in MASLD. Myokines influence muscle metabolism, inflammation, and insulin sensitivity, offering potential therapeutic targets for managing muscle atrophy and sarcopenia in the context of MASLD. Understanding the interaction between myokines and skeletal muscle may lead to novel interventions to mitigate MASLD progression and sarcopenia. This review examines the mechanisms by which myokines regulate skeletal muscle metabolism and function in the context of MASLD.

Lung cancer, a severe malignancy with poor prognosis, poses a formidable public health challenge. Beyond conventional risk factors such as smoking, evidence suggests that chronic respiratory diseases also contribute to its development. Among these, asthma, the second most prevalent chronic respiratory condition, is recognized as a risk factor for lung cancer. Nevertheless, the underlying molecular link between these two diseases remains elusive. Our study, leveraging multi-cohort data integration and employing Weighted Gene Co-expression Network Analysis (WGCNA), identified conserved shared genes between lung cancer and asthma. By constructing the functional landscape of these shared genes, we underscored the pivotal roles of pathways related to lung development and cellular metabolic homeostasis in the pathogenesis of both lung cancer and asthma. Utilizing machine learning-based screening, we identified three hub biomarkers: P2RY14, ANXA3, and SLIT2, which could serve as diagnostic tools for these diseases. In summary, our research provides invaluable insights into the shared mechanisms underlying asthma and lung cancer, and potential diagnostic biomarkers.

Advanced intraoperative anesthesia techniques have improved patient cooperation, stabilized hemodynamic status, and reduced postoperative pain and disability, especially in reconstructive limb surgeries. The Wide-Awake Local Anesthetic No Tourniquet (WALANT) technique has recently been adopted due to its peculiar advantages, but comparative studies of its benefits and limitations against general anesthesia are not well explored in FCR tendon transfer surgery. This study investigates outcomes of Flexor Carpi Radialis (FCR) tendon transfer surgery in patients with radial nerve injuries using either the Wide-Awake approach or general anesthesia. In this cross-sectional study, we included patients with confirmed radial nerve injuries who underwent FCR tendon transfer from 2019 to 2024. Participants were then divided into two groups; one received the WALANT anesthesia (200 ml epinephrine 1:400000 and 0.25% lidocaine buffered with sodium bicarbonate), while the other received general anesthesia. Data was collected from the medical records and the Hospital Information System (HIS). The intensity of pain, postoperative opioid consumption, wrist and finger function, and levels of patient satisfaction were measured both before and one month after surgery. There was no statistical difference between the groups regarding pain intensity, postoperative opioid dosage, and symptom severity. However, the WALANT group exhibited significantly less motor dysfunction in the postoperative period, which resulted in a much higher level of patient satisfaction compared to general anesthesia. WALANT provides quicker recovery of motor function and results in higher patient satisfaction when compared to general anesthesia for FCR tendon transfer surgeries. This approach thus leads to an earlier return to daily activities and occupational duties, which in turn helps improve overall patient satisfaction post-surgery.

Irisin's response to Resistance Exercise (RE) remains unclear. We investigated plasma and salivary irisin levels following acute moderate load/high volume (ML/HV) RE and explored correlations with muscle damage markers. Eight healthy, resistance-trained young males (23.3±2.5 yrs) completed one ML/HV RE session (full-body, 30 sets to failure, 70% 1RM). Plasma/saliva irisin, plasma Creatine Kinase (CK), and Visual Analogue Scale (VAS) for muscle soreness were assessed at baseline, 15 min, 24h, and 48h post-exercise. Plasma irisin increased significantly by ~9% (p=0.01) and salivary irisin by ~4% (p=0.02) at 15 min post-exercise, returning towards baseline by 24h. A strong correlation (rho=0.8, p=0.03) existed between percentage changes in plasma and salivary irisin at 15 min. CK and VAS peaked at 24h (p<0.001; p=0.02 vs 48h, respectively), but showed no significant correlation with irisin changes. Acute ML/HV RE elicits a transient increase in plasma and salivary irisin. Saliva may be a useful non-invasive proxy for irisin changes post-RE. This acute irisin response appears independent of EIMD markers in this population. Findings require confirmation in larger studies.