Search Results (13)

A 56-year-old man with a family history of myopathy developed generalized muscle weakness at age 45. At age 52, he was diagnosed with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), confirmed by muscle pathology and a pathogenic VCP mutation (c.464G>A, p.R155H). Concurrent testing identified a heterozygous SCN4A variant (c.215C>T, p.P72L), a known modifier in myotonic dystrophy type 2 (DM2). At age 56, neurological examination showed proximal muscle weakness (MMT grade 3), distal lower extremity weakness (grade 4–5), and areflexia. He ambulated independently with knee locking, though squatting was impossible. No myotonia or periodic paralysis was observed. Multimodal imaging captured classic IBMPFD hallmarks: skeletal muscle computed tomography (CT) showed advanced fatty degeneration of paraspinal and limb muscles; brain magnetic resonance imaging (MRI) revealed mild frontal lobe atrophy; and bone scintigraphy showed increased uptake in the lumbar spine and iliums. Although the SCN4A p.P72L variant exacerbates DM2, the patient’s three-year progression from independent walking to cane use remained consistent with the natural history of IBMPFD. This case suggests that in the presence of a robustly penetrant VCP phenotype, the SCN4A variant does not necessarily exert a clinical modifying effect. Full article

European wild ungulates are captured for different purposes, requiring the assessment of animal welfare and health. Specific guidelines to assess stress and pathophysiological compromise in captured wild ungulates are lacking. This review aims to set the bases for establishing standardised protocols allowing the evaluation of capture and handling stress in wild European ungulates. Physical and chemical capture and handling elicit stress, a physiological response activating sympathetic–adrenal medulla and hypothalamic–pituitary–adrenal cortex axes, releasing catecholamines and corticosteroids, respectively. While being an adaptive response, if prolonged over time, the effects become harmful and life-threatening, increasing body temperature and heart rate, and provoking muscular and renal ischemia. This clinical outcome is known as capture myopathy, which encompasses four sequential syndromes: Hyper acute or capture shock, Acute or ataxic-myoglobinuric, Sub-acute or ruptured muscle, and Chronic debility or delayed per-acute. Monitoring temperature, heart rate, serum muscular enzyme (CK, AST, ALT, and LDH) activities and lactate, creatinine, urea, and potassium concentrations characterises pathophysiological compromise. Wild ungulate capture and handling protocols should include not only methodology but also monitoring, data recording, sample collection, and analyses. This information should serve to improve protocols and eventually develop specific guidelines for stress and welfare assessment when capturing and handling wild ungulates. Full article

Woody breast (WB) myopathy is a major quality defect in modern broiler production, but its complex and heterogeneous pathophysiology continues to challenge objective and biologically meaningful detection. This review synthesizes 53 studies identified through a systematic search (January 2020 to May 2026), together with foundational pre-window works cited for context, organized across three main areas: physical and mechanical measurements, biochemical and physiological indicators, and imaging- and artificial intelligence-based approaches. Physical methods provide relatively interpretable measures of tissue properties, including stiffness, electrical behavior, and water mobility. Biochemical and physiological approaches offer greater insight into the mechanisms underlying WB development and may support earlier prediction, although their routine application remains limited. Imaging and AI-based methods appear to be the most scalable options for automated assessment, but their performance is still constrained by limited datasets and imperfect reference standards. Overall, no single modality fully captures the structural, functional, and metabolic complexity of WB. Future advances will require improved quantitative reference frameworks, more robust validation under commercial conditions, and multimodal strategies that better integrate biological relevance with practical applicability. Full article

The Apennine wolf (Canis lupus italicus) is a distinct subspecies whose ongoing population recovery in Italy has progressively increased the demand for live capture protocols validated for scientific monitoring and conservation management. Despite the widespread use of mechanical and chemical immobilization in European wolf management, no study has to date systematically evaluated the combined use of the Fremont™ humane foot snare with a medetomidine-ketamine-acepromazine (MKA) protocol in this subspecies, nor characterized the associated cardiorespiratory, thermal, and hematobiochemical parameters under operational field conditions. Between June 2010 and July 2017, thirteen free-ranging Apennine wolves were captured in Maiella National Park (central Apennines, Italy) using the Fremont™ snare and immobilized with a standardized MKA protocol; only animals immobilized with this protocol are reported here, as three additional capture events employed different drug combinations. Cardiorespiratory parameters, body temperature, peripheral oxygen saturation, venous blood gas values, and a comprehensive hematological and serum biochemical panel were recorded during immobilization. Mean heart rate was 100 ± 15 bpm, respiratory rate 24 ± 13 breaths/min, body temperature 38.1 ± 1.3 °C, and mean SpO₂ 88 ± 11% (range: 66–97%; n = 12). No clinically significant hyperthermia requiring active intervention was recorded in the cohort as a whole. Hematological and biochemical values were broadly consistent with published reference ranges for the species, with condition-specific deviations identified in two individuals—one pregnant female and one juvenile presenting signs of transient capture-related myopathy—both of which resolved without clinical sequelae. No capture-related mortality occurred. All thirteen individuals survived the minimum post-capture monitoring period. Preliminary GPS observations in a subset of individuals (n = 3) suggest a transient reduction in movement activity in the immediate post-release period. These findings support the safety and operational feasibility of the combined Fremont™ snare–MKA protocol for the Apennine wolf, and provide baseline physiological and hematobiochemical reference data for Canis lupus italicus relevant to future capture and conservation management programmes. Full article

Introduction: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, X-linked, progressive neuromuscular disease caused by abnormal CAG trinucleotide expansion in the androgen receptor gene. Patients with SBMA report difficulty with falls on self-reported activities of daily living scales. To our knowledge, no study has examined the relationship between falls and common clinical measures of strength, balance, mobility, and disease biomarkers. We performed a cross-sectional analysis of an SBMA cohort. Objectives: The objectives of this study are as follows: (1) compare demographics, clinical measures, and biomarkers between patients who did and did not fall; (2) determine which measures best discriminate fallers from non-fallers; and (3) identify cutoff scores to detect patients with a higher fall risk. Design: Cross-sectional analysis was used. Outcome Measures: Disease biomarkers included blood serum creatinine, and clinical measures included the Timed Up and Go (TUG), the Adult Myopathy Assessment Tool (AMAT), and posturography, including the Modified Clinical Test of Sensory Interaction on Balance and the Motor Control Test. The Maximal Voluntary Isometric Contractions (MVICs) of four lower extremity muscles were captured via fixed-frame dynamometry. Results: We identified three clinical measures that help detect fall risk in people with SBMA. A post hoc receiver operating characteristic curve analysis helped identify cut scores for each test. Impairments of mobility (TUG > 8 s), muscle endurance (AMAT endurance subscale < 14), and muscle strength (ankle plantar flexion MVIC < 45% of predicted) were different between fallers and non-fallers, via independent t-tests. Conclusions: These three clinical tests can help detect fall risk that may help clinicians implement gait aid use or other fall prevention strategies before catastrophic falls occur. Full article

Since Darwin, many evolutionary and behavioral researchers have considered the role of phenotypic traits that favor the domestication of nonhuman animals. Among such proposed traits are a species’ social structure, level of intra- and interspecific agonistic interactions, sociosexual behaviors, parental strategies, reaction to humans, habitat preference, dietary habits, developmental trajectories, and utility to humans. However, little to no comparative phylogenetic evidence exists concerning the importance of these attributes for the domestication of animals. Moreover, rather than considering domestication as a dichotomous event (non-domesticated vs. domesticated), humans and their potential domesticates encountered numerous socioecological challenges/obstacles during the domestication process before reaching the stage of full domestication. The present study explored the influence of adult body mass, gregariousness, dietary breadth, and reaction to humans on the domestication process of ungulates. The phylogenetic comparative model revealed that capture myopathy (CM), as a proxy for reaction to humans, negatively and significantly influenced the domestication process. The present paper also explored the evolution of CM in equine species in response to the presence of large carnivoran predators during the Pleistocene. Ecologies that preserved most of the large carnivoran predators of equine species also featured more equine taxa with CM (e.g., zebras), which were thus less suitable for domestication. Full article

Using virtual reality (VR) for Muscular Dystrophy (MD) rehabilitation promises to be a novel therapeutic approach, potentially enhancing motor learning, functional outcomes, and overall quality of life. This systematic review primarily aimed to provide a comprehensive summary of the current understanding regarding the application of VR in supporting MD rehabilitation. A systematic search was performed in PubMed, Scopus, Cochrane Library, and Web of Science to identify relevant articles. The inclusion criteria encompassed studies involving individuals diagnosed with MD who underwent VR interventions, with a primary focus on assessing functional improvement. Methodological quality of the studies was assessed by using the Physiotherapy Evidence Database (PEDro) scale. Seven studies, involving 440 individuals with Duchenne Muscular Dystrophy (DMD), were included in the review. Among these studies, six primarily explored the motor learning potential of VR, while one study investigated the impact of VR training on functional abilities. In conclusion, the qualitative synthesis supports VR-based interventions’ potential positive effects on motor learning, performance improvement, and functional outcomes in individuals with DMD. However, current usage mainly focuses on assessing the potential mechanisms’ benefits, suggesting the importance of expanding clinical adoption to harness their therapeutic potential for MD patients. Full article

In 25% of patients with mitochondrial myopathies, pathogenic mitochondrial DNA (mtDNA) mutation are the cause. For heteroplasmic mtDNA mutations, symptoms manifest when the mutation load exceeds a tissue-specific threshold. Therefore, lowering the mutation load is expected to ameliorate disease manifestations. This can be achieved by fusing wild-type mesoangioblasts with mtDNA mutant myotubes. We have tested this in vitro for female carriers of the m.3271T>C or m.3291T>C mutation (mutation load >90%) using wild-type male mesoangioblasts. Individual fused myotubes were collected by a newly-developed laser capture microdissection (LCM) protocol, visualized by immunostaining using an anti-myosin antibody. Fusion rates were determined based on male-female nuclei ratios by fluorescently labelling the Y-chromosome. Using combined ‘wet’ and ‘air dried’ LCM imaging improved fluorescence imaging quality and cell yield. Wild-type mesoangioblasts fused in different ratios with myotubes containing either the m.3271T>C or the m.3291T>C mutation. This resulted in the reduction of the mtDNA mutation load proportional to the number of fused wild-type mesoangioblasts for both mtDNA mutations. The proportional reduction in mtDNA mutation load in vitro after fusion is promising in the context of muscle stem cell therapy for mtDNA mutation carriers in vivo, in which we propose the same strategy using autologous wild-type mesoangioblasts. Full article

The Apennine chamois (Rupicapra pyrenaica ornata) is one of the rarest subspecies in Italy, listed in Annexes II and IV of the Habitats Directive and currently included as a vulnerable subspecies in the International Union for Conservation of Nature (IUCN) Red List. The Maiella National Park population has recently been defined as a source population for reintroduction into other parks. Since collective captures allow for better selection of target animals for the establishment of new colonies, the aim of this study is to evaluate the physiological conditions and animal welfare in free-ranging Apennine chamois after collective physical capture followed by chemical immobilization with medetomidine 0.054 mg ± 0.007, ketamine 2.14 mg ± 0.28, and acepromazine 0.043 mg ± 0.006. Twenty-one Apennine chamois (18 females and 3 males) were captured and translocated for conservation purposes. The effects of capture and anesthesia were evaluated using clinical variables, hematology, serum biochemistry, and venous blood gas analysis, the latter being used in the field for the first time in chamois capture. A risk of metabolic acidosis and capture myopathy was identified, although it did not compromise the survival of 19 chamois, which adapted to novel environments and founded new colonies, as verified through GPS radiocollars. The protocol applied in this study represents an innovative approach to assessing animal physiology and welfare in collective mountain ungulate captures, useful for improving management activities for conservation purposes. Full article

Global Positioning System (GPS) tracking offers key information in the study of movement ecology of threatened species. Nevertheless, the placement of GPS devices requires animal capture and handling, which may represent a challenge to the individual’s survival after release, mainly due to capture myopathy. The Pyrenean Capercaillie (Tetrao urogallus aquitanicus) is a threatened galliform especially sensitive to handling, extremely elusive, and challenging to capture. Our goal was to adapt a sedation protocol for Pyrenean Capercaillies undergoing GPS tagging, in order to increase their welfare and safety during the procedure. From 2018 to 2021, 23 wild Pyrenean Capercaillies were captured and sedated for GPS tagging as part of a European conservation project of emblematic Pyrenean avian species. The birds received intramuscular (IM) sedation with midazolam (ranging from 1.9 mg/kg to 8.08 mg/kg) and were handled for 20 to 40 min. Sedation was reversed with flumazenil (0.1 mg/mL IM). The sedated capercaillies were less responsive to stimuli (i.e., closed eyes and recumbency), showing discrete to no response to handling (i.e., placement of the GPS device, physical examination, cloacal temperature measurement, or reflex tests). Such response was compared in birds with sedation doses above and below the average dose (5.17 mg/kg). Only one clinical sign showed statistically significant differences between the two groups (“open-mouth breathing” sign, p = 0.02). A mortality rate of 4.35% was registered (one individual died during handling). Sedation facilitated the handling of the birds and faster interventions in the field, without increasing mortality when compared to handling without sedation. Therefore, sedation was shown to be a useful tool to reduce stress related to capture and handling of the threatened Pyrenean Capercaillie. Full article

Mitochondrial dysfunction is considered to be a major cause of primary mitochondrial myopathy in children and adults, as reduced mitochondrial respiration and morphological changes such as ragged red fibers (RRFs) are observed in muscle biopsies. However, it is also possible to hypothesize the role of mitochondrial dysfunction in aging muscle or in secondary mitochondrial dysfunctions. The recognition of true histological patterns of mitochondrial myopathy can avoid unnecessary genetic investigations. The aim of our study was to develop and validate machine-learning methods for RRF detection in light microscopy images of skeletal muscle tissue. We used image sets of 489 color images captured from representative areas of Gomori’s trichrome-stained tissue retrieved from light microscopy images at a 20× magnification. We compared the performance of random forest, gradient boosting machine, and support vector machine classifiers. Our results suggested that the advent of scanning technologies, combined with the development of machine-learning models for image classification, make neuromuscular disorders’ automated diagnostic systems a concrete possibility. Full article

Hypoglycin A (HGA) originating from soapberry fruits (litchi, and ackee) seeds or seedlings from the sycamore maple (SM) tree (related to Sapindaceae) may cause Jamaican vomiting sickness in humans and atypical myopathy in horses and ruminants. A possible transfer into dairy cow’s milk cannot be ruled out since the literature has revealed HGA in the milk of mares and in the offal of captured deer following HGA intoxication. From a study, carried out for another purpose, bulk raw milk samples from four randomly selected dairy farms were available. The cows were pastured in the daytime. A sycamore maple tree was found on the pasture of farm No. 1 only. Bulk milk from the individual tank or milk filling station was sampled in parallels and analyzed for HGA by LC-ESI-MS/MS. Measurable concentrations of HGA occurred only in milk from farm No. 1 and amounted to 120 and 489 nmol/L. Despite low and very variable HGA concentrations, the results indicate that the ingested toxin, once eaten, is transferred into the milk. However, it is unknown how much HGA the individual cow ingested during grazing and what amount was transferred into the bulk milk samples. As a prerequisite for a possible future safety assessment, carry-over studies are needed. Furthermore, the toxins’ stability during milk processing should also be investigated as well. Full article

Capture myopathy (CM) is described in wild animals as a metabolic syndrome resulting from the extreme stress suffered during and after capture, handling, restraint, and transport. Although CM has been characterized in many species of cetaceans, descriptions of cardiac injury—an important component of this syndrome, and, according to previous authors, comparable to the existing human pathology so-called stress cardiomyopathy (SCMP)—are still rare. Therefore, the main aim of this report is to illustrate, for the first time, the biochemical analysis, and gross, histopathological, histochemical and immunohistochemical features of CM, and more specifically of the SCMP involved in this syndrome, caused by the live-stranding and consequent rehabilitation attempt, for a certain period of time, in a juvenile male Risso’s dolphin (Grampus griseus). The animal presented elevated values of creatine kinase, cardiac troponin I and blood urea nitrogen, with some variations during the rehabilitation period. Histologically, we detected vascular changes and acute degenerative lesions analogous to the ones observed in humans with SCMP. We consider this study to be an important contribution to the study of cetaceans since it could help in decision-making and treatment procedures during live-strandings and improve conservation efforts by reducing the mortality of these animals. Full article