European Journal of Translational Myology最新文献

Parry-Romberg Syndrome (PRS) is a rare condition that can affect the musculoskeletal system, resulting in progressive motor disabilities. The existing literature provides limited evidence regarding physical therapy interventions for PRS. We present a case of a 69-year-old woman diagnosed with PRS with associated ataxia treated with a neurorehabilitative program aimed at improving motor function and balance. We administered various functional scales (SPPB, Tampa Scale of Kinesiophobia, Berg Balance Scale, and Tinetti Scale). Additionally, a standardized gait analysis was conducted in our Gait and Motion Laboratory. Following neurorehabilitative therapy, the patient exhibited significant positive changes in various motor outcomes, as demonstrated by improvements in scores on standardized tests (SPBB, Berg, TSK and Tinetti scales when compared pre- and post-treatment), as well as enhancements in biomechanical parameters and quality of life (FIM, SF-12). This case report suggests that neurorehabilitative therapy can be beneficial in improving motor function and balance in PRS patient, as well as other rare condition associated with disabilities.

With the present work, we aimed to investigate antimicrobial resistance and virulence gene patterns of Staphylococcus aureus in lactating patients with infectious mastitis and evaluate their potential impact on inflammatory myopathies of the lactating breast. Between January 2021 and April 2024, 158 lactating patients with culture-confirmed infectious mastitis were treated at Hangzhou Linping District Maternal and Child Health Hospital. Among these, 119 isolates were identified as S. aureus (82 MRSA, 37 MSSA). Antimicrobial susceptibility and virulence genes were analyzed. Muscle involvement was inferred indirectly from clinical presentation, including marked local induration, tenderness extending to deeper breast tissue, and reduced breast mobility. No imaging or biopsy was performed to confirm myopathic changes directly. S. aureus was the predominant pathogen. Both MRSA and MSSA showed high resistance to penicillin G, erythromycin, and Clindamycin, while all isolates were susceptible to nitrofurantoin, linezolid, vancomycin, and rifampicin. MRSA exhibited higher resistance than MSSA (p<0.05). Frequent resistance genes included aac(6')/aph(2''), blaZ, mecA, aph(3')-III, and qacA/B. Virulence genes hla, clfA, clfB, and fnbA were common; pvl was less frequent in MRSA (p<0.05). MRSA infections were associated with stronger local inflammation and increased clinical markers possibly related to muscle involvement, raising the possibility of an association with myopathic changes in lactating breast tissue. S. aureus, particularly MRSA, is the main pathogen in lactating mastitis. Specific virulence genes may influence the severity of local inflammation and myopathic changes, highlighting implications for inflammatory myopathies in the lactating breast.

Stress urinary incontinence is common during and after pregnancy and impacts women's health both physically and mentally. This protocol suggests a non-invasive preemptive training strategy which integrates pelvic floor muscle training and core stability exercises with nutrition counseling. This model provides a clear, systematic, evidence-based framework which can be incorporated into antenatal care arising from a literature and clinical guideline review. The objective is to equip healthcare professionals with tangible, multidisciplinary strategies for proactive urinary incontinence care during in pregnancy, this model underscores the importance of early, non-pharmacological interventions in preserving pelvic health and preventing postpartum dysfunction, offering a feasible and low-cost strategy to support the well-being of pregnant women.

We read with interest the article by ElZamarany et al. on a case-control study of the use of concentric needle macroelectromyography (CN-macroEMG) in 26 patients with Inflammatory Myopathies (IM) and 20 healthy control subjects.1 The study concludes that CN macroEMG provides optimal results in the diagnosis of IM and can be helpful in the follow-up of IM patients.1 The study is impressive, but some points should be discussed. The first point is that the objectives of the study were not specified.1 We should know whether the study was conducted to calculate the sensitivity and specificity of the method for diagnosing IM, or simply to document that CN-macroEMG may be abnormal in patients with IM. If the aim was to calculate sensitivity/specificity, we should know which gold standard for the diagnosis of IM was used to compare it with the CN-macroEMG findings. [...].

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.