European Journal of Translational Myology最新文献

The Padova Muscle Days (PMD), an international congress on skeletal muscle, was founded in 1985 to provide consultancy on Translational Myology. Its goal has always been to translate the results of basic research into clinical trials. Indeed, function and mass of skeletal striated muscle are influenced by and affect central and peripheral neural pathologies, cardiac, pulmonary, hepatic, metabolic, and endocrine disorders, as well as lifestyle, aging, not to mention cancer. Over the years, PMD has led to innovative multidisciplinary results, so much so that it became natural to emphasize this with a neologism now included in the title of the congress series: "Padua Days on Muscle and Mobility Medicine (Pd3m)". Mobility Medicine is used to bring together knowledge currently dispersed across too many subspecialties. Medium-sized scientific conferences, held in hotels large enough to accommodate all participants, increase opportunities for constructive discussions during breaks and evenings, bringing together young and senior experts in basic sciences and clinical specialties. Extra-sessional discussions offer young scientists good opportunities for new collaborations and job offers. Since its inception, the PMD has offered these opportunities, leading to innovative multidisciplinary results published in high-level scientific journals. We hope that many more speakers will share our dreams and make them come true during the next conference in March 2026.

This study aimed to evaluate the efficacy of a novel combination therapy, AVC (Anti-Vitiligo Cream), compared to common treatments for vitiligo. A randomized interventional study was conducted on 1,000 patients with confirmed vitiligo, aged 7-70 years. Participants were divided into five groups (200 patients each): oral prednisolone, Tofacitinib, Ruxolitinib, AVC (Anti-Vitiligo Cream), and AVC combined with Tofacitinib. Outcomes were assessed over two years using the Vitiligo Area Scoring Index (VASI), patient satisfaction scores, and clinical observations. AVC-based therapies (Groups 4 and 5) demonstrated superior efficacy and patient satisfaction compared to other treatments. Group 5 (AVC + Tofacitinib) achieved the highest outcomes, with a mean satisfaction score of 90 (IQR: 85-95) and treatment efficacy significantly higher than Group 1 (p < 0.001). Regression analysis identified treatment outcomes and therapy type as significant predictors of satisfaction. AVC (Anti-Vitiligo Cream), particularly in combination with Tofacitinib, represents a groundbreaking approach for managing vitiligo, providing enhanced efficacy and patient satisfaction. These findings support the potential of AVC-based therapies as a standard treatment option.

Moyamoya Disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries. To date, no studies have specifically described the characteristics of Moyamoya among Iranian populations. This study aims to examine the clinical characteristics of a case series of Iranian patients with MMD. This study prospectively identified all patients diagnosed with MMD at an institutional tertiary hospital in Tehran from 2010 to 2020. Data on demographic characteristics, disease presentations, past medical history, type of vascular lesion, treatment approaches, and outcomes during follow-up were collected. A total of 15 patients with MMD were included. Of these, 9 (60%) were female. Age distribution at diagnosis showed 6 patients were younger than 40 years. No familial patterns of MMD were observed. All patients experienced Cerebrovascular Accidents (CVA) at disease onset. A notable prevalence of comorbid conditions was observed, including hypertension (33.3%), diabetes mellitus (20%), and seizure disorders (20%). Vascular lesions were unilateral in 46.6% of patients and bilateral in 53.4%. Direct bypass surgery was performed in 40% of cases. The mean follow-up period was 16.3±1.2 months. During this time, 2 patients died and 1 experienced a new CVA. Residual symptoms were present in 13.3% of patients. This study shows distinct characteristics of MMD in an Iranian cohort, including a female predominance, frequent ischemic symptoms, and a high rate of bilateral occlusions. Further prospective studies are warranted to assess the efficacy of medical and surgical interventions in preventing recurrent symptoms in this population.

Adaptability is an important aspect of human behavior that determines the successful accomplishment of a task. The objective to study was to compare the patterns of adaptive behavior (AB) in older adults of both sexes according to age range and schooling. A cross-sectional descriptive (comparative) study was designed on 65 older adults (30 males and 35 females) of the Maule region (Chile). The sample was non-probabilistic. The age range was 70 to 85 years. Weight and height were evaluated and Body Mass Index (BMI) was calculated. A scale of self-perception of AB in older adults was applied. BMI in males was 29.5±3.9kg/m2 and in females was 28.4±5.0kg/m2. The AB values in males were 150.0±13.0 points and in females 57.0±15.0 points (p<0.05). The values of AB by schooling were: In males: High School Education 142.3± 11.5 points and Secondary Education 151.6± 14.6 points (p<0.05). In females: High School 149.6± 15.2 points and Secondary Education 159.8± 15.1 points (p<0.05). This study found that females performed better in AB, specifically in self-care, home life, self-direction, and socialization than their male counterparts; in addition, older adults of both sexes with higher education had better scores in AB than those with secondary education.

Adolescent Idiopathic Scoliosis (AIS) is a three-dimensional spinal deformity that, if untreated, can impair posture, biomechanics, and quality of life. This case report aims to present the clinical outcomes of an innovative conservative treatment approach that combines the PosturalSpine® D'Amanti Method with the Chêneau brace, in an 8-year-old patient with thoracolumbar rotoscoliosis. This integrative method may represent a novel alternative to conventional bracing or physiotherapy-only protocols. An 8-year-old girl diagnosed with a 32° thoracolumbar rotoscoliosis likely of hereditary origin underwent a 36-month treatment program at Studio Kinesis in Ragusa. The intervention combined a Chêneau brace with the PosturalSpine® D'Amanti Method, which includes proprioceptive and biomechanical exercises. The protocol involved eight 30-minute sessions per month, focusing on spinal alignment, posture, breathing, and body awareness. Radiographic evaluations were conducted at baseline and 10th, 24th, and 35th months. The Cobb angle improved from 32° to 12°, with the most notable reduction occurring within the first 12 months. A slight increase was observed, which may correspond with a 12.5 cm growth spurt, suggesting the influence of rapid growth on treatment outcomes. The integration of PosturalSpine® D'Amanti Method with the Chêneau brace showed encouraging results in reducing spinal curvature and enhancing postural alignment with a noticeable reduction of rib hump in a pediatric patient. This case highlights the potential of combining kinesiotherapy and bracing in scoliosis management. However, broader studies are necessary to validate these findings and optimize protocols for long-term care, particularly during growth phases.

Health-related quality of life (HRQoL) is a critical outcome measure in oncology research and clinical care. This study aimed to translate, culturally adapt, and psychometrically validate the Bulgarian versions of the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 (EORTC QLQ-C30) and the Functional Assessment of Cancer Therapy-General (FACT-G), focusing on Internal Consistency (IC), Test-Retest Reliability (TRR), and Construct Validity (CV) in Cancer Survivors (CS) diagnosed with breast, lung, or colorectal cancer. A total of 235 Bulgarian CS (mean age 62.3 ± 11.2 years; 118 males, 117 females) were recruited from five tertiary care hospitals in a cross-sectional study design. The EORTC QLQ-C30 and FACT-G were translated and culturally adapted according to the official EORTC and FACIT guidelines. Psychometric evaluation included data quality (floor and ceiling effects, missing responses), IC, TRR, and CV assessed via convergent and Discriminant Validity (DV). A subsample of 78 study participants (33.2%) completed both questionnaires twice over a 14-day interval for TRR assessment. CV was supported by strong item-scale and cross-instrument correlations (r = 0.62-0.81). IC was excellent across all domains (Cronbach's α = 0.88-0.95), and TRR demonstrated high stability (ICC = 0.75-0.89). Bland-Altman analysis showed acceptable agreement, with a mean difference of 23.20 (95% CI: 21.87-24.53) and limits of agreement ranging from +3.77 to +42.63. Minimal Floor Effects (FE) were observed, while Ceiling Effects (CE) were noted in specific domains (e.g., Social Functioning (SF) and Global Health (GH) in the EORTC QLQ-C30; Social Well-Being (SWB) and Emotional Well-Being (EWB) in the FACT-G). The findings support that the Bulgarian versions of the EORTC QLQ-C30 and FACT-G are valid, reliable, and culturally appropriate instruments for evaluating HRQoL in Bulgarian CS. Their use is recommended in both clinical practice and research contexts.

Children are not fully able to associate severity and injury probability with cognitive, emotional, and social factors. This study focused on physical risk-taking by exploring the associations between risk propensity and physical balance during the developmental age. Specifically, sixteen girls aged 58 to 108 months (≈ 5 to 9 years), of whom 43.75% normal-weighted and all were active in rhythmic gymnastics, were subjected to a combination of physical tests (i.e., static and dynamic) and questionnaires to evaluate balance, sensation seeking, and risk propensity, respectively. Our results showed that the better the static balance, the higher the sensation seeking and risk propensity, while age had a negligible effect on these associations. Our study suggested that balance affects propensity towards risky behaviors in children.

The Eustachian tube has played a surprisingly central role in the development of modern otology. Although often overshadowed by the clinical study of the inner ear and tympanic cavity, it was the Eustachian tube, and its treatment, that led to the establishment of Otology as an independent medical discipline in the early 19th century. This article aims to retrace this evolution, beginning with the historical, anatomical, and physiological background of catheterization techniques, continuing with the functional anatomy of the peritubal muscles, and concluding with a discussion of the most common middle ear pathologies. It also highlights the modern rediscovery of thermal therapy as a potential ally in the management of Eustachian tube dysfunction.

This study aimed to identify key cell cycle-related genes involved in cervical cancer progression using comprehensive bioinformatics analyses and to explore their potential implications in neuromuscular complications associated with cancer pathology or treatment. Gene expression profiles related to cervical cancer (GSE63514, GSE6791, GSE52903, and GSE9750) were retrieved from the GEO database. Differentially Expressed Genes (DEGs) distinguishing tumor tissues from normal tissues were determined through Venn diagram analysis. Functional enrichment was conducted via Gene Ontology (GO) and KEGG pathway analyses. A Protein-Protein Interaction (PPI) network was constructed using the STRING database, and core hub genes were screened through Cytoscape. Validation of selected genes was performed using GEPIA. A total of 117 DEGs were identified, with 89 upregulated and 28 downregulated genes. In this case, five hub genes-CDK1, CCNA2, CDC20, TOP2A, and EXO1-displayed significant overexpression in cervical cancer tissues with p values lower than 0.05. It is noteworthy that CCNA2 was associated with increased tumor stage and worse Disease-Free Survival (DFS), and CDK1 with worse Overall Survival (OS). These genes play crucial roles in the regulatory circuits of the cell cycle, and their altered expression may impact a range of cellular processes beyond cancer, such as the neuromuscular signalling abnormalities seen in some patients with cervical cancer. The specific genes associated with the cell cycle can act as prognostic biomarkers and may also have an influence in mediating neuromuscular complications due to their impact on mitotic control and molecular signaling pathways throughout the body. This latter aspect is helpful for the prognosis of cancer, including cervical cancer, as well as for the multidisciplinary treatment of neuromuscular symptoms that some cervical cancer patients may have.

Beyond respiration, the diaphragm contributes to trunk stability and posture. Rehabilitative Ultrasound Imaging (RUSI) assesses Diaphragm Thickness (DT) and Excursion (DE), but evidence on reliability across novice examiners is limited. This study investigated intra- and inter-tester reliability of diaphragmatic RUSI across novice examiners in healthy women and compared DT and DE between parous and nulliparous participants. Healthy parous and nulliparous women participated. Exclusion criteria included pregnancy, chronic conditions, and BMI > 30 kg/m2. Two physiotherapists, novices in RUSI, measured DT during full inspiration and expiration and DE during quiet breathing. An independent examiner calculated the Thickening Fraction (TF). Three within-session measurements were taken for intra-tester reliability, whereas, for inter-tester reliability, agreement between mean measurements was analyzed via Intraclass Correlation Coefficients (ICC) and 95% Confidence Intervals (CIs). Independent samples t-tests assessed DT and DE differences between groups. Twenty women (33±14.3 years, BMI: 23.4±3.3) participated. Intra-tester reliability was moderate to good for DT (ICC:0.511-0.691) and very good for DE (ICC:0.700-0.756). Inter-tester reliability was very good for DE (ICC=0.748), and moderate for DT (ICC: 0.573-0.706). TF reliability was poor. Only one tester found higher inspiratory DT in parous women (p<0.01). Novice examiners can reliably measure DT and DE using RUSI, supporting its use in rehabilitation. Further standardization is required to enhance RUSI practices and additional research to clarify parity-related diaphragm changes.