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Search Results (237)

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Keywords = foot disorders

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16 pages, 2388 KiB  
Article
Evaluating Lumbar Biomechanics for Work-Related Musculoskeletal Disorders at Varying Working Heights During Wall Construction Tasks
by Md. Sumon Rahman, Tatsuru Yazaki, Takanori Chihara and Jiro Sakamoto
Biomechanics 2025, 5(3), 58; https://doi.org/10.3390/biomechanics5030058 - 3 Aug 2025
Viewed by 98
Abstract
Objectives: The aim of this study was to evaluate the impact of four working heights on lumbar biomechanics during wall construction tasks, focusing on work-related musculoskeletal disorders (WMSDs). Methods: Fifteen young male participants performed simulated mortar-spreading and bricklaying tasks while actual [...] Read more.
Objectives: The aim of this study was to evaluate the impact of four working heights on lumbar biomechanics during wall construction tasks, focusing on work-related musculoskeletal disorders (WMSDs). Methods: Fifteen young male participants performed simulated mortar-spreading and bricklaying tasks while actual body movements were recorded using Inertial Measurement Unit (IMU) sensors. Muscle activities of the lumbar erector spinae (ES), quadratus lumborum (QL), multifidus (MF), gluteus maximus (GM), and iliopsoas (IL) were estimated using a 3D musculoskeletal (MSK) model and measured via surface electromyography (sEMG). The analysis of variance (ANOVA) test was conducted to identify the significant differences in muscle activities across four working heights (i.e., foot, knee, waist, and shoulder). Results: Findings showed that working at foot-level height resulted in the highest muscle activity (7.6% to 40.6% increase), particularly in the ES and QL muscles, indicating an increased risk of WMSDs. The activities of the ES, MF, and GM muscles were statistically significant across both tasks and all working heights (p < 0.01). Conclusions: Both MSK and sEMG analyses indicated significantly lower muscle activities at knee and waist heights, suggesting these as the best working positions (47 cm to 107 cm) for minimizing the risk of WMSDs. Conversely, working at foot and shoulder heights was identified as a significant risk factor for WMSDs. Additionally, the similar trends observed between MSK simulations and sEMG data suggest that MSK modeling can effectively substitute for sEMG in future studies. These findings provide valuable insights into ergonomic work positioning to reduce WMSD risks among wall construction workers. Full article
(This article belongs to the Section Tissue and Vascular Biomechanics)
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12 pages, 772 KiB  
Article
A Cost Analysis of Diabetic Hand Infections: A Study Based on Direct, Indirect, and One-Year Follow-Up Costs
by Burak Kuşcu and Kaan Gürbüz
Healthcare 2025, 13(15), 1826; https://doi.org/10.3390/healthcare13151826 - 26 Jul 2025
Viewed by 199
Abstract
Background: Diabetes mellitus is a chronic metabolic disorder that increases mortality and morbidity rates. Infections of the hand can easily cause long-term morbidity and dysfunction, but despite their associated high morbidity, diabetic hand infections are more neglected than diabetic foot infections. Objectives [...] Read more.
Background: Diabetes mellitus is a chronic metabolic disorder that increases mortality and morbidity rates. Infections of the hand can easily cause long-term morbidity and dysfunction, but despite their associated high morbidity, diabetic hand infections are more neglected than diabetic foot infections. Objectives: This study was conducted over a one-year follow-up period, considering the total costs of treatment over one year post discharge for patients with diabetic hand infections that required surgery. A Monte Carlo Simulation was used in this study as a sensitivity analysis of all the cost calculations. Materials and Methods: A total of 62 out of 75 patients were diagnosed with Type 2 diabetes; 11 were female, and 64 were male. Out of all the patients, 15 visited outpatient clinics 30 times or more, and due to their recurrent visits, the outpatient treatment costs reached USD 5162.41 ± 3838.55. The total cost incurred over the period from the patients’ first hospitalization to the completion of all treatments and the end of the one-year follow-up was USD 24,602.22 ± 5257.15. Conclusions: The cost of hospitalization was the most important factor affecting the total expenses. Therefore, taking precautions before a diabetic hand infection occurs, or when one does occur, performing treatment without delay is expected to reduce the economic burden. Full article
(This article belongs to the Special Issue Efficiency, Innovation, and Sustainability in Healthcare Systems)
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10 pages, 1053 KiB  
Review
Huriez Syndrome and SCC Risk: A Narrative Review Highlighting Surgical Challenges and Oncologic Considerations
by Alessia Pagnotta, Luca Patanè, Carmine Zoccali, Francesco Saverio Loria, Federico Lo Torto and Diego Ribuffo
J. Clin. Med. 2025, 14(15), 5214; https://doi.org/10.3390/jcm14155214 - 23 Jul 2025
Viewed by 285
Abstract
Background: Huriez syndrome is a rare hereditary skin disorder marked by early-onset sclerodactyly, hyperkeratosis of the palms and soles, and nail dysplasia. A key concern is the early and aggressive development of cutaneous squamous cell carcinoma (SCC), typically affecting the dorsal aspects [...] Read more.
Background: Huriez syndrome is a rare hereditary skin disorder marked by early-onset sclerodactyly, hyperkeratosis of the palms and soles, and nail dysplasia. A key concern is the early and aggressive development of cutaneous squamous cell carcinoma (SCC), typically affecting the dorsal aspects of the hands. Methods: This narrative review summarizes clinical features, genetic aspects, and oncologic implications of Huriez syndrome. A systematic search was conducted in PubMed and Scopus, including English-language articles published up to May 2025. Relevant case reports and small case series were analyzed. Results: Seven patients (58.3%) underwent multiple surgeries due to recurrent or bilateral disease. Six patients (50%) required amputations, including finger, hand, and arm amputations, with no foot amputations reported. Reconstruction after oncological resection was performed in six patients (50%) using skin grafts (3), pedicled flaps (2), or free flaps (1). Amputation was mainly for advanced disease, with radial forearm flaps used for reconstruction. All flaps remained disease-free. Five cases (41.6%) had a history of local recurrence. Conclusions: The early diagnosis of Huriez syndrome is crucial to enable the surveillance and timely treatment of SCC. A multidisciplinary team including dermatologists, oncologists, plastic surgeons, and geneticists is recommended. Further research is needed to clarify genetic mechanisms and develop early detection strategies to improve outcomes. Full article
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17 pages, 2518 KiB  
Article
Blockade of Dopamine D3 Receptors in the Ventral Tegmental Area Mitigates Fear Memory Generalization
by Xiangjun Fang, Xiaoyan Ding, Ning Wu, Jin Li and Rui Song
Int. J. Mol. Sci. 2025, 26(13), 6520; https://doi.org/10.3390/ijms26136520 - 7 Jul 2025
Viewed by 413
Abstract
The generalization of fear memories is an adaptive neurobiological process that promotes survival in complex and dynamic environments. While generalization has adaptive value, fear generalization is maladaptive and is a significant feature of stress-related disorders such as post-traumatic stress disorder (PTSD). The dopamine [...] Read more.
The generalization of fear memories is an adaptive neurobiological process that promotes survival in complex and dynamic environments. While generalization has adaptive value, fear generalization is maladaptive and is a significant feature of stress-related disorders such as post-traumatic stress disorder (PTSD). The dopamine system plays a crucial role in both reward- and fear-related processes; however, the contribution of dopamine D3 receptors (D3Rs) to fear generalization in intense foot-shock models remains unclear. In this study, we administered a highly selective D3R antagonist, YQA14 (1 μg/0.2 μL/side), in the ventral tegmental area (VTA), which significantly inhibited fear generalization in novel contexts within foot-shock models. This effect was mediated by reducing the neuronal activity in the basolateral amygdala (BLA). These findings enhance our understanding of the neurobiology of generalization, which is essential from a translational perspective and has broad implications for treating generalized fear disorders. Full article
(This article belongs to the Special Issue Development of Dopaminergic Neurons, 4th Edition)
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18 pages, 1571 KiB  
Article
Genetic Parameters, Linear Associations, and Genome-Wide Association Study for Endotoxin-Induced Cortisol Response in Holstein heifers
by Bruno A. Galindo, Umesh K. Shandilya, Ankita Sharma, Flavio S. Schenkel, Angela Canovas, Bonnie A. Mallard and Niel A. Karrow
Animals 2025, 15(13), 1890; https://doi.org/10.3390/ani15131890 - 26 Jun 2025
Viewed by 328
Abstract
Lipopolysaccharide (LPS) endotoxin is a well-characterized microbe-associated molecular pattern (MAMP) that forms the outer membrane of both pathogenic and commensal Gram-negative bacteria. It plays a crucial role in triggering inflammatory disorders such as mastitis, acidosis, and septicemia. In heifers, an LPS challenge induces [...] Read more.
Lipopolysaccharide (LPS) endotoxin is a well-characterized microbe-associated molecular pattern (MAMP) that forms the outer membrane of both pathogenic and commensal Gram-negative bacteria. It plays a crucial role in triggering inflammatory disorders such as mastitis, acidosis, and septicemia. In heifers, an LPS challenge induces a dynamic stress response, marked by elevated cortisol levels, increased body temperature, and altered immune function. Research indicates that LPS administration leads to a significant rise in cortisol post-challenge. Building on this understanding, the present study aimed to estimate genetic parameters for serum cortisol response to LPS challenge in Holstein heifers and its linear associations with production, health, reproduction, and conformation traits. Additionally, a genome-wide association study (GWAS) was conducted to identify genetic regions associated with cortisol response. A total of 252 animals were evaluated for cortisol response, with correlations estimated between cortisol levels and 55 genomic breeding values for key traits. Genetic parameters and heritability for cortisol response were estimated using Residual Maximum Likelihood (REML) in the Blupf90+ v 2.57 software. Single-Step GWAS (ssGWAS) employing a 10-SNP window approach and 42,123 SNP markers was performed to identify genomic regions that explained at least 0.5% of additive genetic variance. Finally, candidate genes and QTLs located 50 kb up and downstream of those windows were identified. The cortisol response showed significant but weak linear associations with cystic ovaries, body maintenance requirements, lactation persistency, milk yield, and protein yield (p-value ≤ 0.05) and showed suggestive weak linear associations with udder texture, clinical ketosis, heel horn erosion, and milking speed (p-value ≤ 0.15). Cortisol response showed significant additive genetic variance, along with moderate heritability of 0.26 (±0.19). A total of 34 windows explained at least 0.5% of additive genetic variance, and 75 QTLs and 11 candidate genes, comprising the genes CCL20, DAW1, CSMD2, HMGB4, B3GAT2, PARD3, bta-mir-2285aw, CFH, CDH2, ENSBTAG00000052242, and ENSBTAG00000050498, were identified. The functional enrichment analysis allowed us to infer two instances where these gene products could interfere with cortisol production: the first instance is related to the complement system, and the second one is related to the EMT (Epithelium–Mesenchymal Transition) and pituitary gland formation. Among the QTLs, 13 were enriched in the dataset, corresponding to traits related to milk (potassium content), the exterior (udder traits, teat placement, foot angle, rear leg placement, and feet and leg conformation), production (length of productive life, net merit, and type), and reproduction (stillbirth and calving ease). In summary, the cortisol response to LPS challenge in Holstein heifers seems to be moderately heritable and has weak but significant linear associations with important production and health traits. Several candidate genes identified could perform important roles, in at least two ways, for cortisol production, and QTLs were identified close to regions of the genome that explained a significant amount of additive genetic variance for cortisol response. Therefore, further investigations are warranted to validate these findings with a larger dataset. Full article
(This article belongs to the Special Issue Genetic Analysis of Important Traits in Domestic Animals)
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15 pages, 505 KiB  
Review
Skewfoot Deformity: State of the Art
by Antonio Mazzotti, Federico Sgubbi, Alberto Arceri, Gianmarco Di Paola, Elena Artioli, Simone Ottavio Zielli, Lorenzo Marcucci, Nicola Guindani, Cesare Faldini and Maurizio De Pellegrin
Children 2025, 12(6), 760; https://doi.org/10.3390/children12060760 - 12 Jun 2025
Viewed by 399
Abstract
Background: Skewfoot, also known as Z-foot, is a rare and complex deformity characterized by a combination of forefoot adduction and hindfoot valgus, resulting in a “Z” shape. Due to its rarity, diagnostic criteria and standardized treatment guidelines are lacking. This scoping review [...] Read more.
Background: Skewfoot, also known as Z-foot, is a rare and complex deformity characterized by a combination of forefoot adduction and hindfoot valgus, resulting in a “Z” shape. Due to its rarity, diagnostic criteria and standardized treatment guidelines are lacking. This scoping review aims to systematically map and summarize the current knowledge regarding skewfoot. Methods: A comprehensive literature search of the PubMed, Cochrane Library, and Scopus databases was conducted to identify relevant articles. Patient-specific data were meticulously extracted from eligible studies and analyzed in detail. Results: A total of 12 studies met the inclusion criteria. Each study was independently reviewed, and data on epidemiology, etiology, clinical presentation, imaging assessment, and treatment options were extracted. Conclusions: The true incidence of skewfoot remains unknown. Etiology is likely multifactorial, often associated with systemic and neurological disorders. Skewfoot management ranges from conservative approaches to surgery. A medial cuneiform opening wedge osteotomy is the most used technique; however, the frequent need for additional procedures emphasizes the complexity of the deformity and the importance of a personalized approach. Full article
(This article belongs to the Special Issue Research in Paediatric Orthopaedic Surgery (2nd Edition))
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35 pages, 3292 KiB  
Review
Photocatalysis and Photodynamic Therapy in Diabetic Foot Ulcers (DFUs) Care: A Novel Approach to Infection Control and Tissue Regeneration
by Paweł Mikziński, Karolina Kraus, Rafał Seredyński, Jarosław Widelski and Emil Paluch
Molecules 2025, 30(11), 2323; https://doi.org/10.3390/molecules30112323 - 26 May 2025
Viewed by 828
Abstract
Photocatalysis and photodynamic therapy have been increasingly used in the management of diabetic foot ulcers (DFUs), and their integration into increasingly innovative treatment protocols enables effective infection control. Advanced techniques such as antibacterial photodynamic therapy (aPDT), liposomal photocatalytic carriers, nanoparticles, and nanomotors—used alone, [...] Read more.
Photocatalysis and photodynamic therapy have been increasingly used in the management of diabetic foot ulcers (DFUs), and their integration into increasingly innovative treatment protocols enables effective infection control. Advanced techniques such as antibacterial photodynamic therapy (aPDT), liposomal photocatalytic carriers, nanoparticles, and nanomotors—used alone, in combination, or with the addition of antibiotics, lysozyme, or phage enzymes—offer promising solutions for wound treatment. These approaches are particularly effective even in the presence of comorbidities such as angiopathies, neuropathies, and immune system disorders, which are common among diabetic patients. Notably, the use of combination therapies holds great potential for addressing challenges within diabetic foot ulcers, including hypoxia, poor circulation, high glucose levels, increased oxidative stress, and rapid biofilm formation—factors that significantly hinder wound healing in diabetic patients. The integration of modern therapeutic strategies is essential for effective clinical practice, starting with halting infection progression, ensuring its effective eradication, and promoting proper tissue regeneration, especially considering that, according to the WHO, 830 million people worldwide suffer from diabetes. Full article
(This article belongs to the Special Issue Photocatalytic Materials and Photocatalytic Reactions, 2nd Edition)
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38 pages, 26279 KiB  
Article
The Comparative Anatomy of the Metatarsal Foot Pad in Eight Species of Birds of Prey and Owls with Regard to the Development of Pododermatitis
by Rebekka Schwehn, Elisabeth Engelke, Christian Seiler, Dominik Fischer, Hermann Seifert, Christiane Pfarrer, Michael Fehr and Marko Legler
Vet. Sci. 2025, 12(5), 498; https://doi.org/10.3390/vetsci12050498 - 19 May 2025
Viewed by 1071
Abstract
Pododermatitis (bumblefoot) occurs commonly in birds of prey and owls and shows species-specific differences in its prevalence, especially between falcons and hawks. The development of the disease is particularly associated with circulatory disorders of the feet. To compare the blood vessel supply of [...] Read more.
Pododermatitis (bumblefoot) occurs commonly in birds of prey and owls and shows species-specific differences in its prevalence, especially between falcons and hawks. The development of the disease is particularly associated with circulatory disorders of the feet. To compare the blood vessel supply of the foot sole, especially the metatarsal foot pad, macroscopic dissections including intravascular injection of latex, contrast µCT scans with barium sulphate, corrosion casts (epoxy resin), and histological examinations of the skin were performed in eight avian species. The main supplying artery of the metatarsal pad, the pulvinar artery, originated from the medial digital artery of the first toe. This main pulvinar artery showed a rather vertical course towards the sole surface, subsequently encircling the metatarsal pad like a basket in falcons and owls, whereas a rather horizontal straight course was observed in northern goshawks and common buzzards. Organized fat tissue was present in the subcutis as the basis for the metatarsal pad only in falcons and owls. The dermis of the metatarsal pad showed a well-developed papillary layer and prominent dermal and subdermal vascular networks in all species examined. The observed differences were discussed regarding both the species-specific prevalence and the etiology of bumblefoot. Full article
(This article belongs to the Section Anatomy, Histology and Pathology)
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11 pages, 2923 KiB  
Article
First-Trimester Morphological Evaluation of Fetuses and Medical Law Implications
by Răzvan Grigoraș Căpitănescu, Marius Cristian Marinaș, Larisa Pătru, Dragoș George Popa, Elena Cristina Andrei, Aura Iuliana Popa, Gabriel Florin Răzvan Mogoș, Nicolae Dragoș Mărgăritescu and Ciprian Laurențiu Pătru
Diagnostics 2025, 15(10), 1277; https://doi.org/10.3390/diagnostics15101277 - 18 May 2025
Viewed by 581
Abstract
Background/Objectives: Over the years, the potential of the first-trimester (FT) ultrasound in the detection of fetal structural defects has increased. The main objectives of the first-trimester fetal screening evaluation are the detection of major structural anomalies and the diagnosis of additional sonographic markers [...] Read more.
Background/Objectives: Over the years, the potential of the first-trimester (FT) ultrasound in the detection of fetal structural defects has increased. The main objectives of the first-trimester fetal screening evaluation are the detection of major structural anomalies and the diagnosis of additional sonographic markers for chromosomal disorders. When a fetal anomaly is diagnosed, patients have the right to be informed about the risks, necessary interventions, or alternatives. Depending on the severity of the anomalies and the pregnancy period, the legality of the pregnancy termination was evaluated. The aim of this study was to assess the impact of the first-trimester morphological screening of the fetus using an ultrasound protocol according to the latest international protocols (the ISUOG protocol). Methods: Between 1 January 2024 and 31 December 2024, 854 pregnancies with gestational ages between 11 weeks and 13 weeks + 6 days were morphologically evaluated during the nuchal scan in the Obstetrics and Gynecology Department of the Emergency County Hospital from Craiova. Both transabdominal and transvaginal ultrasound in 2D and in a color Doppler mode were used in the scanning technique. The ultrasound findings were correlated with the genetic testing results and pregnancy outcome. The medical law implications were related to the cases where the ultrasound was performed at about 13 weeks of gestation, and the screening genetic results showed an increased pregnancy risk, which arose during the FT. In these cases, we performed amniocentesis at about 16–17 weeks of gestation, and especially, the Non-Invasive Prenatal Testing (NIPT)-positive cases were confirmed by karyotyping. Still, at this gestational age of diagnosis, the Romanian law would not allow abortions. Results: By using this extended FT ultrasound protocol, we detected 58 cases with fetal structural anomalies. Eighteen cases were also associated with genetic syndromes after performing chorionic villous sampling (CVS). Three cases detected with minor structural anomalies (two cases with club foot and one case with a cleft upper lip) were lost to follow-up. Conclusions: Fetal morphological ultrasound evaluation is feasible in the late first trimester. By using an extended ultrasound protocol, we can detect most of the fetal structural anomalies and contribute to better medical counseling and improve pregnancy outcomes. Full article
(This article belongs to the Special Issue Echocardiography Applications in Cardiovascular Diseases)
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15 pages, 2289 KiB  
Article
A Biomechanical Comparison of Therapeutic Footwear and Athletic and Low-Cost Generic Shoes: Effects on Plantar Pressure, Lower Extremity Kinematics, and Kinetics
by Qiu Wang, Haibin Liu and Fan Gao
Biomechanics 2025, 5(2), 29; https://doi.org/10.3390/biomechanics5020029 - 3 May 2025
Viewed by 567
Abstract
Introduction: Therapeutic footwear has been often prescribed in clinical practice for accommodating foot deformities and preventing the development of ulceration, yet scientific evidence is limited and outdated. This study aimed to investigate the effects of two types of Orthofeet therapeutic footwear in comparison [...] Read more.
Introduction: Therapeutic footwear has been often prescribed in clinical practice for accommodating foot deformities and preventing the development of ulceration, yet scientific evidence is limited and outdated. This study aimed to investigate the effects of two types of Orthofeet therapeutic footwear in comparison to low-cost generic as well as participants’ own athletic shoes on plantar pressure as well as lower extremity kinematics and kinetics. Methods: Twenty healthy participants without foot disorders or pain walked at self-paced speeds under each of the four footwear conditions. In-shoe plantar pressures were measured using F-Scan, and the gait kinematics and kinetics in the sagittal plane were obtained. The foot was divided into eight anatomical zones and three combined zones (forefoot, mid-foot, and hind foot), with peak plantar pressures recorded in each zone. Results: The therapeutic footwear showed significantly greater ankle dorsiflexion during late midstance and less ankle plantar flexion during push-off than generic shoes. Similarly, larger ankle plantar flexor torques were shown when wearing therapeutic footwear. Therapeutic footwear modified the plantar pressure distribution, increasing the peak pressure under the big toe while slightly reducing the peak pressure under the medial heel. The participants’ own athletic shoes provided slightly distinct outcome measures yet comparable performance when compared to therapeutic footwear. Conclusions: This study suggests that therapeutic footwear offers some distinct biomechanical modifications compared with generic shoes. Future studies are needed to assess if these changes lead to meaningful clinical outcomes, such as reduced injury risk or improved foot health. Full article
(This article belongs to the Section Injury Biomechanics and Rehabilitation)
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11 pages, 1945 KiB  
Article
Initial Effects of Dynamic Tape on Foot Arch Height Under Cyclic Loading: A Pilot Study Among University Students
by Ting-Chen Chang, Po-Cheng Cheng, Yu-Hsuan Chung, Chih-Wei Chang, Yen-Nien Chen and Chia-Jung Chang
Sports 2025, 13(5), 138; https://doi.org/10.3390/sports13050138 - 30 Apr 2025
Viewed by 450
Abstract
Background: Dynamic tape is one of the options for supporting the foot arch in the management of arch-related disorders. However, its mechanical effects on the foot arch remain unclear, particularly under cyclic loading. This study aims to investigate the initial effects of dynamic [...] Read more.
Background: Dynamic tape is one of the options for supporting the foot arch in the management of arch-related disorders. However, its mechanical effects on the foot arch remain unclear, particularly under cyclic loading. This study aims to investigate the initial effects of dynamic taping on maintaining foot arch height under cyclic loading among university students. Methods: Thirty-three asymptomatic participants were enrolled in this study. The dynamic tape was applied to the foot with the lower arch to provide support, and the other foot remained untaped as a control. The tape was applied without pre-tension and simply laid straight. Changes in bilateral foot arch height and index were measured using a commercial foot sole morphology assessment device and compared after 6 and 12 min of walking. Results: The arch height did not decrease significantly after walking for 6 or 12 min in either the taped or untaped foot. However, the arch index of the taped foot increased significantly (from 0.258 ± 0.086 to 0.273 ± 0.085) after 12 min of walking, whereas no significant change was observed in the untaped foot. Conclusions: This study is the first to evaluate the initial effect of dynamic tape applied without pre-tension on foot arch support by directly measuring sole morphology using a pin-array impression device. The results indicate that dynamic tape without pre-tension does not effectively prevent the immediate reduction in foot arch height after application. Further research is needed to determine the optimal balance between pre-tension and therapeutic efficacy. Full article
(This article belongs to the Special Issue Biomechanics of Walking and Running: Health and Injury Prevention)
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16 pages, 8001 KiB  
Article
Epitranscriptomic Analysis of the Ventral Hippocampus in a Mouse Model of Post-Traumatic Stress Disorder Following Deep Brain Stimulation Treatment of the Basolateral Amygdala
by Mingxi Ma, Hao Fan, Hui Zhang, Yao Yin, Yizheng Wang and Yan Gao
Brain Sci. 2025, 15(5), 473; https://doi.org/10.3390/brainsci15050473 - 29 Apr 2025
Viewed by 836
Abstract
Background: Basolateral amygdala (BLA) deep brain stimulation (DBS) has been shown to alleviate the symptoms of post-traumatic stress disorder (PTSD), but the specific mechanisms remain incompletely understood. The hippocampus, a brain region closely connected to the amygdala, plays a key role in the [...] Read more.
Background: Basolateral amygdala (BLA) deep brain stimulation (DBS) has been shown to alleviate the symptoms of post-traumatic stress disorder (PTSD), but the specific mechanisms remain incompletely understood. The hippocampus, a brain region closely connected to the amygdala, plays a key role in the pathological processes of PTSD. The N6-methyladenosine (m6A) methylation of RNAs in the hippocampus is known to play a significant role in regulating the brain’s response to stress and emotional disorders. Methods: This study aimed to comprehensively analyze the roles of transcriptome-wide m6A modifications of the hippocampus in the BLA DBS treatment of a PTSD mouse model using m6A sequencing. Results: Significant alterations in functional connectivity between the ventral hippocampus (vHPC) and BLA were observed in foot shock (FS) mice through functional magnetic resonance imaging (fMRI) analysis. Furthermore, we observed that the expression of the key m6A methyltransferase enzyme, METTL3, in the FS and BLA DBS groups was higher than that in the control group. At the same time, both FS and BLA DBS induced the widespread m6A methylation of RNAs in the vHPC. Gene ontology (GO) enrichment analysis revealed that FS altered methylation in metabolic, developmental, and cytoskeletal pathways, while BLA DBS targeted metabolic, cell cycle, and neuroplasticity-related genes. Additionally, BLA DBS reversed the aberrant methylation of genes associated with multiple functional pathways induced by FS, including those related to cholinergic transmission, sodium and calcium ion homeostasis, and stress hormone responsiveness. We identified a set of RNAs with methylation changes that were reversed by BLA DBS in the FS vs. Ctrl (control) comparison, including those associated with cholinergic transmission, sodium and calcium ion balance, and stress hormone response. Additionally, we detected several specific BLA DBS-related genes through MeRIP-qPCR, indicating that DBS influences crucial genes linked to calcium signaling and synaptic plasticity. Conclusions: We draw two conclusions from these findings: BLA DBS may alleviate PTSD-like symptoms by reversing FS-induced methylation changes and by altering the methylation levels of crucial genes. These findings indicate that epigenetic m6A modifications in the vHPC may play an important role in the amelioration of PTSD using BLA DBS. Full article
(This article belongs to the Section Molecular and Cellular Neuroscience)
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11 pages, 1365 KiB  
Article
Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature
by Anna Szoszkiewicz, Anna Sowińska-Seidler, Karolina Gruca-Stryjak and Aleksander Jamsheer
Genes 2025, 16(5), 495; https://doi.org/10.3390/genes16050495 - 26 Apr 2025
Viewed by 755
Abstract
Background: Split-hand/foot malformation (SHFM) is a rare congenital limb anomaly defined by the absence or hypoplasia of the central rays of the autopod. SHFM occurs as an isolated entity or part of genetic syndromes with several causative copy-number variations or monogenic alterations known [...] Read more.
Background: Split-hand/foot malformation (SHFM) is a rare congenital limb anomaly defined by the absence or hypoplasia of the central rays of the autopod. SHFM occurs as an isolated entity or part of genetic syndromes with several causative copy-number variations or monogenic alterations known to be involved in the disease pathomechanism. On the other hand, cleft lip/palate (CL/P) usually results from polygenic and environmental factors, with the complex interplay of both leading to this malformation. Pathogenic variants in FGFR1 have been linked to phenotypically distinct disorders, including Hartsfield syndrome, Kallmann syndrome, Jackson–Weiss syndrome, osteoglophonic dysplasia, and Pfeiffer syndrome. Although pathogenic variants in FGFR1 can contribute to syndromic SHFM or CL/P, their role in isolated SHFM or CL remains poorly described in the literature. Methods: We conducted targeted next-generation sequencing (NGS) in the proband with SHFM, followed by segregation analysis in the family members. Results: In this study, we report an index patient presenting with isolated SHFM and his brother with CL and facial dysmorphism, as well as their father with isolated hyposmia. Targeted next-generation sequencing revealed a previously reported heterozygous missense pathogenic variant in FGFR1 (c.830G>A; p.Cys277Tyr) in both affected siblings and their hyposmic father. Conclusions: This study expands the phenotypic spectrum associated with FGFR1 pathogenic variants, emphasizing their involvement in non-syndromic SHFM and CL or isolated hyposmia. Our findings highlight the importance of considering FGFR1 in the molecular diagnosis of isolated SHFM or orofacial clefting, point to the high intrafamilial variability of FGFR1 pathogenic variants, and demonstrate the diagnostic value of targeted NGS in rare congenital malformations. Full article
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16 pages, 1026 KiB  
Article
Effectiveness of Multicomponent Balance Training and Sensorimotor Foot Mobilization on Postural Stability in Patients Following Brain Tumor Surgery
by Natasa Kos, Marusa Brcar, Marko Brcar and Tomaz Velnar
Life 2025, 15(4), 579; https://doi.org/10.3390/life15040579 - 1 Apr 2025
Viewed by 620
Abstract
Background: Our study investigated the impact of multicomponent balance exercises (MBE) and sensorimotor mobilization with foot muscle strengthening (SMFE) on postural stability in patients with balance disorders, assessed using the Balance Error Scoring System (BESS) while standing still. Methods: Twenty postoperative patients were [...] Read more.
Background: Our study investigated the impact of multicomponent balance exercises (MBE) and sensorimotor mobilization with foot muscle strengthening (SMFE) on postural stability in patients with balance disorders, assessed using the Balance Error Scoring System (BESS) while standing still. Methods: Twenty postoperative patients were included in a randomized clinical study and divided into an MBE group (six women and four men with an average age of 30.2 years) and the SMFE group (six women and four men aged 34.5 years). Balance was assessed with the BESS on the third postoperative day and before discharge. The hospitalization lasted 10 days. Results: All patients in both groups showed significant clinical and statistical improvements (p < 0.05) in maintaining an upright posture after the BESS test. In the MBE group, 80% of patients achieved a minimum clinically significant change of 10 points in postural stability, whereas 100% of patients in the SMFE group did the same. The SMFE group exhibited a statistically significant improvement (p < 0.05) in specific balance tasks conducted on hard and soft surfaces. Conclusions: Our patient sample results suggest that SMFE is more effective than MBE. We recommend its use in early rehabilitation, although further research is necessary. Full article
(This article belongs to the Section Medical Research)
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15 pages, 758 KiB  
Article
Impact of Manual Therapy on Plantar Pressures in Patients with Fibromyalgia: A Single-Arm, Non-Randomized Pilot Clinical Trial
by Francisco J. Falaguera-Vera, Javier Torralba-Estellés, Juan Vicente-Mampel, Javier Ferrer-Torregrosa, Elisa Oltra and María Garcia-Escudero
Healthcare 2025, 13(7), 764; https://doi.org/10.3390/healthcare13070764 - 29 Mar 2025
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Abstract
Background: Fibromyalgia (FM) is a chronic disorder causing widespread musculoskeletal pain, often leading to physical deconditioning that affects posture and gait. This study evaluates the effects of a manual therapy protocol targeting dorsal muscles in the lower back on plantar pressure modifications, considering [...] Read more.
Background: Fibromyalgia (FM) is a chronic disorder causing widespread musculoskeletal pain, often leading to physical deconditioning that affects posture and gait. This study evaluates the effects of a manual therapy protocol targeting dorsal muscles in the lower back on plantar pressure modifications, considering body mass index (BMI) influence. Methods: A single-arm, non-randomized clinical trial included 24 women diagnosed with FM for at least three years. They underwent an eight-session manual therapy protocol over four weeks, applying moderate pressure to dorsal muscles in the lower back. Baropodometric analyses were conducted pre- and post-intervention under dynamic conditions. Statistical analyses used paired t-tests and effect size calculations to assess intervention effects and BMI impact. Results: Significant improvements in plantar pressure distribution were observed in both the left foot (p = 0.01, d = −0.54) and the right foot (p = 0.008, d = −0.59). However, strength and peak pressure metrics showed no significant changes. Patients with normal BMI exhibited greater improvements than those in the overweight category. Conclusions: Preliminary findings suggest that manual therapy positively influenced plantar pressure distribution in FM patients, particularly in those with normal BMI. Further research is needed to explore long-term effects and broader clinical applications. Full article
(This article belongs to the Special Issue Research on Podiatric Medicine and Healthcare)
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