Search Results (274)

Background: Upper-limb spasticity involving the shoulder girdle and elbow flexors often impairs functional hand use, and although Botulinum toxin type A (BoNT-A) is a first-line therapy, severe proximal synergies may persist while higher doses risk distal weakness. Methods: We report a case of a 47-year-old woman with neurodegenerative tetraparesis and marked shoulder and elbow flexor spasticity treated with bilateral percutaneous cryoneurolysis of the lateral pectoral, thoracodorsal, and musculocutaneous nerves, followed by distal BoNT-A injections, and we conducted a scoping review following Arksey and O’Malley, Levac, and PRISMA-ScR methods to contextualize the current evidence. Results: At one-month follow-up, the patient showed a reduction in MAS from 4 to 1–2, complete resolution of pain, improved passive shoulder abduction and elevation, preserved distal dexterity, and high satisfaction with no adverse events. The scoping review identified consistent MAS and range-of-motion improvements across multiple case reports and small series involving similar proximal nerve targets. Conclusions: The combined proximal cryoneurolysis–distal BoNT-A approach appears to be a feasible dual-modulation strategy for complex upper-limb spasticity when the preservation of hand function is essential, and the emerging literature supports its further investigation. Full article

Background: Pelvic floor dysfunction, more prevalent in women but affecting both genders, impairs sphincter control and sexual health, and causes pelvic pain. Pelvic floor muscle (PFM) training is the first-line treatment for urinary incontinence, supported by robust evidence. Rehabilitative ultrasound imaging (RUSI) serves as a visual biofeedback tool, providing real-time imaging to enhance PFM training, motor learning, and treatment adherence. Aim: This narrative review evaluates the role and efficacy of RUSI in pelvic floor rehabilitation. Method: A comprehensive search of PubMed, Cochrane, and MEDLINE was conducted using keywords related to pelvic floor rehabilitation, ultrasound, and biofeedback, limited to English-language publications up to July 2025. Systematic reviews, meta-analyses, and clinical trials were prioritized. Results: Transperineal and transabdominal ultrasound improve PFM function across diverse populations. In post-prostatectomy men, transperineal ultrasound-guided training enhanced PFM contraction and reduced urinary leakage. In postpartum women with pelvic girdle pain, transabdominal ultrasound-guided biofeedback combined with exercises decreased pain and improved function. Ultrasound-guided pelvic floor muscle contraction demonstrated superior performance compared to verbal instruction. Notably, 57% of participants who were unable to contract the pelvic floor muscles with verbal cues achieved a correct contraction with ultrasound biofeedback, and this approach also resulted in more sustained improvements in PFM strength. Compared to other biofeedback modalities, RUSI demonstrated outcomes that are comparable to or superior to those of alternative methods. However, evidence is limited by a lack of standardized protocols and randomized controlled trials comparing RUSI with other modalities. Conclusions: RUSI is an effective visual biofeedback tool that enhances outcomes of PFM training in pelvic floor rehabilitation. It supports clinical decision-making and patient engagement, particularly in cases where traditional assessments are challenging. Further research, including the development of standardized protocols and comparative trials, is necessary to optimize the clinical integration of this method and confirm its superiority over other biofeedback methods. Full article

Background/Objectives: Consensus exists on the effectiveness of surgery in improving scapular position and appearance in Sprengel’s deformity, yet evidence regarding functional outcomes is limited. This study aimed to evaluate functional results of the modified Green procedure in children and to assess patient-reported outcome measures. Methods: Patients who underwent corrective surgery using the modified Green technique between 2006 and 2023 were analyzed. Demographic and treatment-specific parameters were collected. The clinical severity of the deformity was graded according to the Cavendish classification, and radiographic evaluation was performed using the Rigault classification. Therapeutic success with respect to mobility was determined by comparing pre- and postoperative abduction and elevation. Postoperative movement patterns of the upper limb were further evaluated using three-dimensional motion analysis. To quantify outcomes related to quality of life and functionality, standardized questionnaires were administered, including the Quick-DASH, the Shoulder Pain and Disability Index (SPADI), and the UCLA Shoulder Scale. Results: A total of 15 cases were included. The mean age at the time of surgery was 6.9 ± 4.0 years, with a mean follow-up of 4.8 ± 4.7 years (range, 0.6–17.7). Glenohumeral abduction improved to 90° in all cases, representing a mean gain of 8° (preoperatively: 82 ± 11°). Elevation improved by an average of 55° (preoperatively: 108 ± 28°; postoperatively: 163 ± 25°). At final follow-up, the mean Quick-DASH score was 10.7 ± 12.7, the mean SPADI score was 10.9 ± 12.1, and the mean UCLA Shoulder Scale was 31.9 ± 4.3, indicating excellent clinical outcomes. Conclusions: The modified Green procedure appears to be a safe and effective surgical technique for the correction of Sprengel’s deformity in children, demonstrating favorable outcomes in terms of mobility, function, and quality of life in this cohort. Full article

Deep planting of young trees—defined as the burial of the root collar below soil grade—is widely recognized by practitioners as an improper technique that can impair tree development and establishment. Despite this knowledge, research has shown that urban trees are frequently planted too deeply. To better understand the impacts of planting depth on the urban forest, we conducted a literature review of peer-reviewed and professional studies relevant to the effects of planting depth in urban trees. Most studies reported effects on tree establishment (34%), growth (23%), and root development (22%). A general conclusion across reviewed articles was evident: trees planted too deep exhibited higher mortality, slower establishment, and reduced growth, primarily due to poor root development. Effects of planting depth were also species-specific—Norway Maple (Acer platanoides L.), Turkish Hazel (Corylus colurna L.), White Ash (Fraxinus americana L.), and Green Ash (Fraxinus pennsylvanica Marshall) showed minimal differences in performance when deeply planted, while Baldcypress (Taxodium distichum L. Rich), which tolerates anoxic conditions, performed better at or below grade than when planted above grade, although the findings in these studies only measured the effects of planting depth relative to limited measured parameters. We also compiled a reference table that links tree species to their performance based on planting depth. These findings highlight the critical role of planting depth in shaping root architecture and long-term success, emphasizing the need for adherence to best practices concerning proper planting, tree maintenance (e.g., mulching), and production in the nursery. Full article

Limb-Girdle Muscular Dystrophies (LGMDs) are genetically heterogeneous disorders primarily affecting proximal limb muscles. The most common form, LGMDR1, results from biallelic CAPN3 mutations encoding calpain-3, a muscle-specific protease. Recently, growing evidence implicates heterozygous CAPN3 variants in autosomal dominant disease (LGMDD4), with pathogenic mechanisms still incompletely understood. In a retrospective multicenter Italian study of patients harboring monoallelic CAPN3 variants (ClinicalTrials.gov NCT05956132), the p.Asp753Asn substitution was the most frequent change, detected in eight unrelated individuals. These patients, aged 6–80 years, exhibited a spectrum of presentations ranging from asymptomatic hyperCKemia and exertional myalgia to mild proximal weakness. Muscle biopsies showed mild, nonspecific myopathic changes, while calpain-3 expression was variably reduced. Structural modeling suggested that Asp753 may stabilize the Ca²⁺-bound conformation, with substitution potentially disrupting inter-domain interactions. Literature review identified 31 additional reports worldwide, confirming recurrence while highlighting marked phenotypic heterogeneity and limited clinical annotation. The aggregated evidence supports a pathogenic role for p.Asp753Asn, though the precise mechanism, potentially involving a dominant-negative effect, remains to be validated. These findings emphasize diagnostic challenges posed by single CAPN3 variants and underscore the need for integrated clinical, segregation, and functional studies to clarify pathogenic mechanisms, refine counseling, and guide patient-specific rehabilitation and therapeutic strategies. Full article

Introduction: Neurodevelopmental disorders (NDs), including autism spectrum disorder and related conditions, are increasingly recognized among women of reproductive age, yet their unique needs during pregnancy and childbirth remain poorly studied. Communication differences, sensory sensitivities, and co-occurring psychiatric conditions may complicate maternity care, leading to higher risks of adverse outcomes and ethical challenges in clinical practice. This study aimed to examine pregnancy complications, delivery outcomes, and postpartum characteristics in women with NDs, compared with a control group, and to identify specific barriers in perinatal care. Methods: A retrospective observational study was conducted at the National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, including 18 pregnant women with confirmed NDs and 21 matched controls with uncomplicated pregnancies. Data were extracted from medical records and included demographic parameters, pregnancy course, complications, labor management, neonatal outcomes, and documented communication or ethical issues. Comparative analyses were performed using chi-square or Fisher’s exact tests for categorical variables and Student’s t-test or Mann–Whitney U test for continuous variables. Results: Pregnant women with NDs had significantly higher rates of pelvic girdle pain (66.7% vs. 23.8%, p = 0.01), vaginal bleeding (44.4% vs. 14.3%, p = 0.04), anxiety (61.1% vs. 19.0%, p = 0.007), and depression (50.0% vs. 14.3%, p = 0.02) compared with controls. Persistent daily nausea was also more common (50.0% vs. 14.3%, p = 0.03). Attendance of prenatal physician visits was lower in the ND group (66.7% vs. 95.2%, p = 0.02). Cesarean delivery occurred in 83.3% of ND women versus 23.8% of controls (p < 0.001), with psychiatric recommendations often cited as the indication. Breastfeeding was declined in 94.4% of ND cases versus 4.8% of controls. Labor duration was prolonged, and neonatal anthropometrics were lower in the ND group. Communication difficulties were documented in 83.3% of ND participants, and postpartum depressive symptoms were identified in 77.8%. Conclusions: Pregnant women with NDs face a multidimensional vulnerability in maternity care, including higher frequencies of pain, bleeding, nausea, anxiety, and depression, prolonged labor, markedly increased cesarean rates, reduced breastfeeding initiation, and smaller neonatal anthropometrics. Frequent communication barriers, guardian decision-making, and postpartum separation further complicate care. These findings underscore the necessity of neurodiversity-informed, individualized perinatal strategies, integrating sensory accommodations, trauma-informed communication, and proactive mental health support to improve both clinical outcomes and patient experiences. Full article

Dysferlin is a large transmembrane protein that is mutated or absent in Limb Girdle Muscular Dystrophy Type R2 (LGMD R2). Although it may have several functions in healthy skeletal muscle, most research on dysferlin has addressed its roles in repair of the sarcolemma and in maintaining proper control of Ca²⁺ homeostasis at the triad junction, where it concentrates. Here, we review the literature on the role of dysferlin in both membrane repair and in Ca²⁺ homeostasis, with a focus on the latter. We propose that pathophysiology in LGMD R2 is in part the result of increased leak of Ca²⁺ at the triad junction, which in turn reduces the amplitude of Ca²⁺ transients and, by activating Ca²⁺-induced Ca²⁺ release, or CICR, at the triad junction, induces Ca²⁺ waves. We discuss the mechanisms that regulate Ca²⁺ leak and Ca²⁺ levels at the triad junction under physiological and pathophysiological conditions. Our results suggest that suppression of abnormal leak and CICR may be therapeutic for LGMD R2 and other diseases of muscle linked to dysregulation of Ca²⁺ homeostasis. Full article

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial, auditory, and shoulder girdle anomalies. Its significant phenotypic overlap with branchiootorenal spectrum disorders (BORSD)—both linked to EYA1 (EYA transcriptional coactivator and phosphatase 1) gene defects—has raised questions about whether they are distinct entities or part of a single clinical spectrum. We report a novel OTFCS patient with a de novo microdeletion spanning EYA1 and review all published cases of EYA1-related disorders. Our analysis reveals that all EYA1 variant types (truncating, missense, CNV, etc.) can cause BORSD, OTFCS, or hybrid phenotypes, firmly supporting their status as allelic disorders. Crucially, all reported OTFCS patients with EYA1 variants had renal anomalies, a feature previously considered a hallmark of BORSD. We conclude that BORSD and OTFCS constitute a single EYA1-related diagnostic continuum. This reclassification mandates the development of follow-up protocols that integrate renal, otologic, and skeletal surveillance in EYA1-related disorders, including OTFCS, and refines prognostic and genetic counseling. Full article

This article explores devotional responses to childbirth in Byzantine and medieval Western Christianity, focusing on the interplay between maternal experience, sacred objects, and saintly intercession. It begins by examining how the Virgin Mary was revered as a powerful intercessor in matters of fertility and childbirth. Drawing on literary, liturgical, and visual sources, the study also highlights vernacular practices such as the use of ritual girdles and protective garments. It then traces how these traditions migrated to Western Europe, where Mary’s girdle became a widespread devotional object, particularly in Italy and England. Later in the study, special attention is given to the cult of Saints Julitta and Kerykos, known in the West as Quiricus/Cyricus and Julitta, a mother-and-child martyr pair whose veneration in the Latin West gained renewed significance in the late Middle Ages, particularly through its symbolic parallels with Marian devotion in childbirth-related contexts. While Byzantine traditions emphasized theological regulation and elite contexts, Western Christianity fostered more accessible, embodied, and affective forms of devotional practice. The article concludes that childbirth devotion, variably expressed across regions, formed a significant part of Christian spirituality, shaped by institutional authority, local needs, and ritual acts grounded in bodily experience and articulated through images, objects, and gesture. Full article

Parkinson’s disease (PD) is characterized by motor symptoms, with key diagnostic features, such as rigidity, traditionally assessed through subjective clinical scales. This study proposes a novel hybrid framework integrating model-driven biomechanical features (damping ratio, decay rate) and data-driven statistical features (maximum detail coefficient) from wearable sensor data during a modified pendulum test to quantify shoulder girdle rigidity objectively. Using weak supervision, these features were unified to generate robust labels from limited data, achieving a 10% improvement in PD/healthy control classification accuracy (0.71 vs. 0.64) over data-driven methods and matching model-driven performance (0.70). The damping ratio and decay rate, aligning with Wartenberg pendulum test metrics like relaxation index, revealed velocity-dependent aspects of rigidity, challenging its clinical characterization as velocity-independent. Outputs correlated strongly with UPDRS rigidity scores (r = 0.78, p < 0.001), validating their clinical utility as novel biomechanical biomarkers. This framework enhances interpretability and scalability, enabling remote, objective rigidity assessment for early diagnosis and telemedicine, advancing PD management through innovative sensor-based neurotechnology. Full article

Background: Acromioclavicular joint (ACJ) injuries frequently result from trauma to the shoulder girdle and are particularly common among young, physically active individuals. These injuries account for approximately 9% of all traumatic shoulder girdle injuries and often lead to functional impairment and pain. The TightRope^® system, LARS™ band, and Bosworth screw are among over 160 currently described surgical techniques for managing ACJ dislocations. However, there is no consensus regarding the optimal surgical approach, particularly for the management of moderate Rockwood Type III ACJ dislocations. Materials and Methods: In this retrospective study, data from 246 patients who underwent surgery for ACJ dislocation between 2010 and 2018 at the Department of Orthopedics and Trauma Surgery, Medical University of Vienna, were analyzed. Patients were divided into four cohorts based on the surgical technique used: Bosworth screw, LARS (acute), LARS (chronic), and TightRope. Clinical and radiological outcomes were assessed pre- and postoperatively using the Visual Analog Scale (VAS), Constant, Disability of the Arm, Shoulder and Hand Score (DASH), Simple Shoulder Test (SST), University of California—Los Angeles Shoulder Score (UCLA), Short Form Health Survey (SF-36), and American Shoulder and Elbow Surgeons score (ASES), as well as radiographic analysis. Radiological measurements of the acromioclavicular (AC) and coracoclavicular (CC) joint spaces were taken on both the injured and uninjured shoulders to analyze and compare the reduction in joint gaps. Results: All surgical methods resulted in significant reductions in AC and CC joint gaps. The TightRope and LARS acute groups showed the greatest reductions, with minimal complication rates. Complication analysis revealed significant differences in clavicular elevation (p < 0.001) and CC-ligament ossification (p = 0.006), which were most frequent in the Bosworth group and least common in TightRope^® patients, with LARS showing intermediate values. AC joint arthrosis was uncommon in all four groups and did not differ significantly (p = 0.13). Overall, TightRope^® was associated with the most favorable complication profile. The postoperative VAS score in the TightRope group was 1.52 ± 2.06, and the Constant score was 96.83 ± 5.41, reflecting high patient satisfaction. Conclusions: All systems led to satisfactory radiological and clinical outcomes, with the LARS™ band showing particular effectiveness in chronic ACJ dislocations. While all techniques provided good results, the TightRope^® system demonstrated the most favorable overall profile in our cohort and may therefore be considered a promising contemporary option. Further studies are needed to determine the optimal treatment for moderate ACJ dislocations and to assess the cost-effectiveness of these surgical techniques. Full article

In tropical regions, the establishment of large-scale exotic plantations has addressed the demand for timber resources but has also disrupted the structural stability of native vegetation and altered soil nutrient cycling, thereby impairing ecosystem functions. Identifying effective restoration strategies for these plantations is crucial for sustainable forest management and ecological security. This study examined Acacia mangium Willd., Cunninghamia lanceolata (Lamb.) Hook., and Pinus caribaea Morelet. plantations in Hainan Tropical Rainforest National Park under three treatments: plantation control, girdling, and natural secondary forest. Vegetation surveys and soil analyses were conducted to explore the relationships between community structure, soil physicochemical properties, and enzyme activities. Diversity indices, Pearson correlations, and redundancy analysis were used to assess plant–soil relationships. The results showed that girdling significantly accelerated succession in C. lanceolata and P. caribaea plantations, increased species diversity, and enhanced the dominance of native species. Shrub-layer diversity indices (H_shrub, D_shrub, E_shrub) were the main drivers of soil properties and enzyme activities, while tree-layer effects were weaker. Girdling regulated soil nutrients and biological activity primarily via changes in community structure. These findings highlight the importance of optimizing shrub-layer structure and enhancing diversity for tropical plantation restoration. Combining forest type conversion with moderate interventions can promote coordinated plant–soil development over time. Full article

Duchenne muscular dystrophy (DMD) is typically described in boys with a pathogenic variant in the DMD. However, in certain cases, females may also exhibit symptoms of this X-linked disorder. In the present study, the cause of Duchenne muscular dystrophy in three girls was reciprocal translocations t(X;2), t(X;12), and t(X;16), with breakpoints located within the DMD gene sequence. All patients had global development delay, predominantly proximal muscle weakness, calf muscle hypertrophy, and elevated creatine kinase levels up to 100 times the normal range (16,000–26,694 U/L). All underwent cardiac ultrasound and electromyography, and two of the girls also had muscle MRI data. After receiving negative results of MLPA aimed at the detection of DMD deletions and duplications, as well as the limb-girdle muscular dystrophy gene panel sequencing, the patients were referred to whole genome sequencing, which allowed to detect a translocation involving the short arm of the X chromosome and with breakpoints in the DMD. Karyotyping confirmed reciprocal translocations in all patients, with de novo status established in all three cases. The results of this study contribute to the understanding of clinical polymorphism and genetic heterogeneity of the disease, highlighting the importance of a comprehensive approach to genetic diagnostics in atypical cases. Full article

Neuromuscular diseases (NMDs) like Duchenne muscular dystrophy (DMD), limb–girdle muscular dystrophy (LGMD), and amyotrophic lateral sclerosis (ALS) are rare, progressive disorders with complex molecular mechanisms. Traditional transcriptomic analyses often struggle to capture systems-level dysregulation, especially given the small sample sizes typical of rare disease studies. Our differential expression analysis of eight public RNA-seq datasets from various cell types in DMD, LGMD, and ALS revealed not only disease-relevant pathways but also unexpected enrichments, such as renal development, suggesting systemic impacts beyond muscle tissue. To address limitations in capturing broader molecular mechanisms, we applied an integrative systems biology approach combining differential expression data, protein–protein interaction (PPI) networks, and network embedding techniques. Comparative functional enrichment revealed shared pathways, including glycosaminoglycan binding in both DMD and FUS-related ALS, implicating extracellular matrix–protein interactions in FUS mutation effects. Mapping DEGs onto the human PPI network and assessing their proximity to causal genes uncovered dysregulated non-coding RNAs, such as PAX8-AS1, SBF2-AS1, and NEAT1, potentially indicating common regulatory roles. We also found candidate genes within disease-proximal clusters, like HS3ST3A1, which may contribute to pathogenesis. Overall, this integrative approach reveals shared transcriptional programs and novel targets, advancing our understanding and potential treatment strategies for NMDs. Full article

The zebrafish (Danio rerio) has become one of the most popular and valuable model organisms for studying rare neuromuscular diseases. Its unique characteristics, including the high number of offspring produced with each mating, transparent eggs, rapid development, and genetic similarity to humans, make this small vertebrate ideal for investigating complex and rare disorders affecting the skeletal muscle, such as Duchenne Muscular Dystrophy (DMD), Limb Girdle Muscular Dystrophies (LGMDs), and Brody Myopathy (BM). Various zebrafish models, both natural mutants and genetically engineered strains, have been developed to study these conditions. These models enable the deciphering of pathogenetic mechanisms, the real-time monitoring of disease progression, high-throughput drug screening, and the testing of novel therapeutic approaches. As research progresses, zebrafish models are likely to play an increasingly crucial role in unravelling the complexities of rare neuromuscular diseases and developing targeted therapies, offering hope for affected patients. Full article