Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Journals

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Article Types

Countries / Regions

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Search Results (20,161)

Search Parameters:
Keywords = describing function

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
20 pages, 897 KB  
Article
From Apple By-Product to Shortbread Cookies: Drying Conditions and Their Impact on Product Quality
by Anna Krajewska, Dariusz Dziki and Aldona Sobota
Appl. Sci. 2025, 15(19), 10667; https://doi.org/10.3390/app151910667 (registering DOI) - 2 Oct 2025
Abstract
Apple pomace, a by-product of juice production, is a rich source of dietary fiber and bioactive compounds, making it a promising functional ingredient for bakery applications. This study evaluated the physicochemical and sensory properties of shortbread cookies enriched with apple pomace dried under [...] Read more.
Apple pomace, a by-product of juice production, is a rich source of dietary fiber and bioactive compounds, making it a promising functional ingredient for bakery applications. This study evaluated the physicochemical and sensory properties of shortbread cookies enriched with apple pomace dried under different conditions, while also analyzing the drying process, focusing on drying kinetics and powder characteristics. Pomace dried by either contact drying or freeze-drying was ground and used to replace 20% of wheat flour in the cookie formulation. Drying kinetics were best described by the modified Page model, and freeze-dried pomace showed higher grindability than contact-dried samples. Cookies enriched with pomace exhibited similar overall composition, with differences mainly observed in fiber content (9.82–11.75%). Those containing freeze-dried pomace were lighter, with reduced red and increased yellow tones, and were firmer, requiring approximately 30% higher cutting force. Despite differences in physical properties, enriched cookies were consistently rated higher in overall acceptability than the controls. The results indicate that the drying method and temperature influence the physicochemical properties of apple by-product and the resulting cookies, while having mainly minor effects on sensory acceptance, confirming the potential of apple pomace as a functional ingredient in bakery products. Full article
Show Figures

Figure 1

14 pages, 1366 KB  
Article
Describing Dietary Habits and Body Composition Among High-Intensity Functional Training Athletes: A Mixed Methods Approach
by Kworweinski Lafontant, Jack Livingston, Sofea Smith, Michelle A. Da Silva Barbera, Claudia Gonzalez, Susan Kampiyil, Ngoc Linh Nhi Nguyen, Blake Johnson, Jeffrey R. Stout and David H. Fukuda
Sports 2025, 13(10), 340; https://doi.org/10.3390/sports13100340 - 2 Oct 2025
Abstract
High-intensity functional training (HIFT) has grown in popularity in the past several decades, yet previous research has largely focused on the dietary habits and body composition of elite HIFT athletes and utilized only quantitative study designs, potentially limiting our understanding of typical HIFT [...] Read more.
High-intensity functional training (HIFT) has grown in popularity in the past several decades, yet previous research has largely focused on the dietary habits and body composition of elite HIFT athletes and utilized only quantitative study designs, potentially limiting our understanding of typical HIFT athletes. This study aimed to comprehensively describe the common dietary habits and body composition of HIFT athletes. Data were only analyzed descriptively. Among 62 HIFT athletes (age: 36 ± 11.7 years), we estimated body fat percentage (BF%) using a Siri 3-compartment model, and we assessed dietary habits, dietary supplement (DS) use, and open-response rationales for DS use/disuse via an online questionnaire. Qualitative data from open-response questions were coded and grouped via inductive thematic analysis. Body composition varied among both male (n = 36, BF% = 6.5–27.6%) and female participants (n = 26, BF% = 10.6–37.6%). Most participants reported regular consumption of lean meats and home-cooked meals, yet few participants (~20%) regularly consumed the recommended twice daily servings of dairy, fruits, vegetables, and whole grains. Most (77.4%) HIFT athletes reported DS use, with the average HIFT athlete using approximately six DS; dairy protein, creatine, caffeine, and electrolyte drinks were the most reported DS. Improving health, recovery, and nutrient intake were common reasons for using DS, whereas a lack of noticeable results was the most common reason for discontinuation. Some HIFT athletes may rely on DS to address nutrient gaps rather than whole foods. Full article
(This article belongs to the Collection Human Physiology in Exercise, Health and Sports Performance)
Show Figures

Figure 1

14 pages, 4684 KB  
Article
Morphological Spectrum of the Lateral Pterygoid Muscle: Radioanatomical Analysis, Systematic Review, and Meta-Analytic Synthesis
by George Triantafyllou, Panagiotis Papadopoulos-Manolarakis, Nikolaos-Achilleas Arkoudis, Georgios Velonakis, Alexandros Samolis, Katerina Vassiou, Aliki Fiska and Maria Piagkou
Medicina 2025, 61(10), 1780; https://doi.org/10.3390/medicina61101780 - 1 Oct 2025
Abstract
Background and Objectives: The lateral pterygoid muscle (LPM) is typically described as a two-headed muscle within the infratemporal fossa. However, cadaveric and imaging studies have revealed substantial variability in the number of heads, insertion patterns, and relations to neurovascular structures. Materials and [...] Read more.
Background and Objectives: The lateral pterygoid muscle (LPM) is typically described as a two-headed muscle within the infratemporal fossa. However, cadaveric and imaging studies have revealed substantial variability in the number of heads, insertion patterns, and relations to neurovascular structures. Materials and Methods: An observational study of 250 brain computed tomography angiographies (CTAs) was performed to assess LPM morphology. Additionally, a systematic review and meta-analysis were conducted in accordance with PRISMA 2020 and Evidence-based Anatomy guidelines. Pooled prevalence estimates were calculated with random-effects models. Results: The current study included 250 CTAs for the original study and 1702 muscles for the meta-analytic evidence. During the original study, the two-headed configuration was most common (74.4%), followed by three-headed (14%), one-headed (10.8%), and four-headed (0.8%) morphologies. Symmetry was observed in 75.2% of patients. Meta-analysis confirmed the predominance of the two-headed type (73.98%, 95% CI: 68.22–79.38), with three-headed (16.82%), one-headed (4.37%), and four-headed (<0.01%) variants occurring less frequently. Subgroup analyses showed no significant differences by study type or sample size, though European populations exhibited a higher prevalence of one-headed forms. Conclusions: The LPM demonstrates considerable morphological variability, extending beyond the traditional two-headed model. Recognition of these variants is essential for understanding temporomandibular joint function, interpreting imaging, and planning surgical or interventional procedures within the infratemporal fossa. Advanced imaging provides a reliable tool for individualized anatomical assessment, supporting safer clinical practice. Full article
(This article belongs to the Special Issue The Aesthetic Face of Orthognathic Surgery)
Show Figures

Figure 1

18 pages, 1779 KB  
Article
Genomic Characterization of a Rare K30-ST198 Hypervirulent Klebsiella pneumoniae Clone with Distinctive Virulence Features
by Domingo Fernández Vecilla, Jorge Rodríguez Grande, Nuria Fraile Valcárcel, Mary Paz Roche Matheus, Gotzon Iglesias Hidalgo, Cristina Aspichueta Vivanco, José Luis Díaz de Tuesta del Arco, Sergio García-Fernández, María Siller Ruiz, Zaira Moure, Daniela Vallejo Iriarte, Athanasia Varsaki, Jorge Calvo Montes, María Pía Roiz Mesones, María Carmen Fariñas and Alain A. Ocampo-Sosa
Int. J. Mol. Sci. 2025, 26(19), 9601; https://doi.org/10.3390/ijms26199601 - 1 Oct 2025
Abstract
Hypervirulent Klebsiella pneumoniae (hvKp) has emerged as a significant public health concern, yet rare sublineages remain poorly characterized. Here, we described a K30-ST198 hvKp sublineage identified in four isolates from two patients, including three sequential strains (K30B1, K30B2, K30B3) recovered over eight months [...] Read more.
Hypervirulent Klebsiella pneumoniae (hvKp) has emerged as a significant public health concern, yet rare sublineages remain poorly characterized. Here, we described a K30-ST198 hvKp sublineage identified in four isolates from two patients, including three sequential strains (K30B1, K30B2, K30B3) recovered over eight months from recurrent liver abscesses and one strain (K30-HUMV1) from a urinary tract infection. All isolates exhibited a yYpermucoviscous phenotype and resistance restricted to ampicillin and amoxicillin. Screening with the eazyplex hvKp assay detected ybt and rmpA in all strains, yielding a virulence score of 1. Biofilm production was strong in K30B1, K30B2, moderate in K30-HUMV1, but weak in K30B3. In the Galleria mellonella infection model, K30B1 showed higher virulence than the other isolates. Whole-genome sequencing identified the ICEKp1 carrying hypervirulence-associated genes (ybt, pagO, rmpAC, iroBCDN) together with additional virulence factors (fim, mrkD, uge, ureA, wabG, wcaJ, mliC), while antibiotic resistance genes were limited to fosA and blaSHV-77. Protein structures and their functional domains were predicted using AlphaFold v3.0.1 and ColabFold v1.5.5, based on pLDDT scores, providing further insights into gene functionality. This work represents one of the first detailed characterizations of K30-ST198 hvKp, underscoring the need for integrated genomic, phenotypic, and structural approaches in hvKp surveillance. Full article
(This article belongs to the Collection Microbial Virulence Factors)
Show Figures

Figure 1

32 pages, 1350 KB  
Review
The Serotonergic System and Its Role in Thermoregulation
by Andrei-Ionuţ Negoiţă, Bogdan Amuzescu, Dan Florin Mihăilescu and Cristina Bordea
Physiologia 2025, 5(4), 37; https://doi.org/10.3390/physiologia5040037 - 1 Oct 2025
Abstract
Serotonin (5-hydroxytryptamine—5-HT) is an important neurotransmitter that exerts a remarkably large array of biological roles in the central nervous system and at the body level. It is involved in generating emotions, being a natural mood stabilizer; it reduces depression, anxiety, modulates sleep, and [...] Read more.
Serotonin (5-hydroxytryptamine—5-HT) is an important neurotransmitter that exerts a remarkably large array of biological roles in the central nervous system and at the body level. It is involved in generating emotions, being a natural mood stabilizer; it reduces depression, anxiety, modulates sleep, and has many other effects. It is also involved in fetal and postnatal brain development. This variety of biological effects, particularly in the central nervous system, with influence on behavior and cognitive functions, relies on a large number of pre- and postsynaptic serotonin receptor (5-HTR) isoforms spread throughout the brain. They can be grouped in seven large families and include over 18 subtypes, identified based on gene sequences, expression patterns, and pharmacological responses. While in vertebrates these receptors have been properly characterized and described, their correspondents in invertebrates have been far less explored, despite the assumption that they may have similar properties to those described in vertebrates. This paper summarizes the current knowledge in several important areas that together define the entire scope of serotonin receptor research, with a particular emphasis on the role of serotonergic central pathways and circuitry in thermoregulation and correlations with neurologic and psychiatric pathology. Full article
(This article belongs to the Special Issue Feature Papers in Human Physiology—3rd Edition)
Show Figures

Figure 1

23 pages, 4453 KB  
Article
Inhibitory Effects of Bisphenol Z on 11β-Hydroxysteroid Dehydrogenase 1 and In Silico Molecular Docking Analysis
by Tomasz Tuzimski and Mateusz Sugajski
Molecules 2025, 30(19), 3941; https://doi.org/10.3390/molecules30193941 - 1 Oct 2025
Abstract
Bisphenol A (BPA) is classified as an endocrine disruptor that mainly mimics the effects of estrogen and disrupts the synthesis of male androgens. Due to the toxicity of BPA, some new analogs, such as bisphenol BPB, BPC, BPF, PBH, and BPZ, were introduced [...] Read more.
Bisphenol A (BPA) is classified as an endocrine disruptor that mainly mimics the effects of estrogen and disrupts the synthesis of male androgens. Due to the toxicity of BPA, some new analogs, such as bisphenol BPB, BPC, BPF, PBH, and BPZ, were introduced into the market. The goal of this research was to demonstrate the applicability of kinetic analysis, in particular, Lineweaver-Burk plots, in assessing the impact of bisphenol Z on enzymatic activity. This study aimed to characterize the inhibitory effects of BPZ on 11β-hydroxysteroid dehydrogenase 1 (11β-HSD1) activity in the transformation of 11-dehydrocorticosterone (DHC) to corticosterone (CORT). During the determination of the enzymatic reaction product, chromatographic analysis conditions were optimized using gradient elution and an Acquity UPLC BEH C18 chromatographic column. The retention time of the assayed corticosterone was approximately 2 min. Also described and compared were graphical methods of analysis and data interpretation, such as Lineweaver-Burk, Eadie-Hofstee, and Hanes-Woolf plots. The experiments demonstrated that bisphenol Z is a mixed 11β-hydroxysteroid dehydrogenase 1 (11β-HSD1) inhibitor, responsible for catalyzing the conversion of 11-dehydrocorticosterone (DHC) to corticosterone (CORT). This relationship was confirmed by analyzing Lineweaver-Burk plots, which showed an increase in apparent KM with a decrease in the constant Vmax, suggesting a mixed inhibition mechanism. Molecular docking and detailed analysis of the interaction profiles revealed that BPZ consistently occupies the active site cavities of all examined enzymes (rat and human 11β-HSD1 and Arabidopsis 11β-HSD2), forming a stabilizing network of non-covalent interactions. Our research has significant biological significance considering the role of the 11β-HSD1 enzyme in the conversion of DHC to CORT and the importance of this process and its functions in adipose tissue, the liver, and the brain. Full article
(This article belongs to the Special Issue Modern Trends and Solutions in Analytical Chemistry in Poland)
Show Figures

Figure 1

14 pages, 2606 KB  
Article
Effect of Hydration Time in Saline on the Swelling and Uniaxial Tensile Response of Annulus Fibrosus of the Intervertebral Disc
by Małgorzata Żak and Sylwia Szotek
J. Funct. Biomater. 2025, 16(10), 365; https://doi.org/10.3390/jfb16100365 - 1 Oct 2025
Abstract
The intervertebral disc (IVD) is a biphasic tissue in which the extracellular matrix (ECM) acts as a structural scaffold and regulates hydration and solute transport. The influence of hydration on the swelling and mechanical properties of the IVD, particularly the annulus fibrosus (AF), [...] Read more.
The intervertebral disc (IVD) is a biphasic tissue in which the extracellular matrix (ECM) acts as a structural scaffold and regulates hydration and solute transport. The influence of hydration on the swelling and mechanical properties of the IVD, particularly the annulus fibrosus (AF), is not fully described in the literature. Hydration is assumed to affect inter- and intramolecular hydrogen bonding and hydrophilic interactions, thereby modulating tissue mechanics. This study aimed to assess the effect of hydration time on free swelling of AF and its impact on mechanical performance. AF specimens were divided into five groups, hydrated for 0, 10, 20, 30, or 40 min and subjected to uniaxial tensile testing until failure. Swelling-related geometric changes were correlated with tensile properties. Results demonstrated that hydration duration significantly influenced AF’s structural and mechanical characteristics in anterior and posterior IVD regions. Hydration increases rapidly within 10–20 min, causing cross-sections to swell, stress capacity to decrease, and stiffness to remain unchanged. However, after 40 min, the tissue becomes swollen beyond physiological balance. These findings identify hydration duration as a critical factor regulating AF function and provide important insights for experimental standardization, numerical modeling, and hydrogels designed for intervertebral disc regeneration. Full article
(This article belongs to the Special Issue Advanced Functional Biomaterials in Regenerative Medicine)
Show Figures

Figure 1

20 pages, 1951 KB  
Article
Virtual Prototyping of the Human–Robot Ecosystem for Multiphysics Simulation of Upper Limb Motion Assistance
by Rocco Adduci, Francesca Alvaro, Michele Perrelli and Domenico Mundo
Machines 2025, 13(10), 895; https://doi.org/10.3390/machines13100895 - 1 Oct 2025
Abstract
As stroke is becoming more frequent nowadays, cutting edge rehabilitation approaches are required to recover upper limb functionalities and to support patients during daily activities. Recently, focus has moved to robotic rehabilitation; however, therapeutic devices are still highly expensive, making rehabilitation not easily [...] Read more.
As stroke is becoming more frequent nowadays, cutting edge rehabilitation approaches are required to recover upper limb functionalities and to support patients during daily activities. Recently, focus has moved to robotic rehabilitation; however, therapeutic devices are still highly expensive, making rehabilitation not easily affordable. Moreover, devices are not easily accepted by patients, who can refuse to use them due to not feeling comfortable. The presented work proposes the exploitation of a virtual prototype of the human–robot ecosystem for the study and analysis of patient–robot interactions, enabling their simulation-based investigation in multiple scenarios. For the accomplishment of this task, the Dynamics of Multi-physical Systems platform, previously presented by the authors, is further developed to enable the integration of biomechanical models of the human body with mechatronics models of robotic devices for motion assistance, as well as with PID-based control strategies. The work begins with (1) a description of the background; hence, the current state of the art and purpose of the study; (2) the platform is then presented and the system is formalized, first from a general side and then (3) in the application-specific scenario. (4) The use case is described, presenting a controlled gym weightlifting exercise supported by an exoskeleton and the results are analyzed in a final paragraph (5). Full article
Show Figures

Figure 1

21 pages, 1453 KB  
Article
First and Second Moments of Spherical Distributions That Are Relevant for Biological Applications
by Alexandra Shyntar and Thomas Hillen
Axioms 2025, 14(10), 743; https://doi.org/10.3390/axioms14100743 - 30 Sep 2025
Abstract
Spherical distributions, in particular, the von Mises–Fisher distribution, are often used to analyze directional data. The first and second moments of these distributions are of central interest, as they describe mean orientations as well as anisotropic diffusion tensors. Finding these moments often requires [...] Read more.
Spherical distributions, in particular, the von Mises–Fisher distribution, are often used to analyze directional data. The first and second moments of these distributions are of central interest, as they describe mean orientations as well as anisotropic diffusion tensors. Finding these moments often requires a numerical approximation of complex trigonometric integrals. Instead, we apply the divergence theorem on suitable domains to derive explicit forms of the first and second moments for n-dimensional von Mises–Fisher and peanut distributions. Based on these new formulas, we characterize some meaningful characteristics of these distributions: fractional anisotropy and the anisotropy ratio. We find, surprisingly, that the peanut distribution has an upper bound on anisotropy, while the von-Mises Fisher distribution has no such bound. As a side benefit, we find different forms of some identities for Bessel functions. Full article
(This article belongs to the Special Issue Advances in Mathematical Modeling and Related Topics)
Show Figures

Figure 1

18 pages, 5138 KB  
Article
Model Order Reduction for Rigid–Flexible–Thermal Coupled Viscoelastic Multibody System via the Modal Truncation with Complex Global Modes
by Qinglong Tian, Chengyu Pan, Zhuo Liu and Xiaoming Chen
Actuators 2025, 14(10), 479; https://doi.org/10.3390/act14100479 - 30 Sep 2025
Abstract
A spacecraft is a typical rigid–flexible–thermal coupled multibody system, and the study of such rigid–flexible–thermal coupled systems has important engineering significance. The dissipation effect of material damping has a significant impact on the response of multibody system dynamics. Owing to the increasing multitude [...] Read more.
A spacecraft is a typical rigid–flexible–thermal coupled multibody system, and the study of such rigid–flexible–thermal coupled systems has important engineering significance. The dissipation effect of material damping has a significant impact on the response of multibody system dynamics. Owing to the increasing multitude of computational dimensions, computational efficiency has remained a significant bottleneck hindering their practical applications in engineering. However, due to the fact that the stiffness matrix is a highly nonlinear function of generalized coordinates, traditional methods of modal truncation are difficult to apply directly. In this study, the absolute nodal coordinate formulation (ANCF) is used to uniformly describe the modeling of rigid–flexible–thermal coupled multibody systems with large-scale motion and deformation. The constant tangent stiffness matrix and damping matrix can be obtained by locally linearizing the dynamic equation and heat transfer equations, which are based on the Taylor expansion. The dynamic and heat transfer equations obtained by reducing the order of complex modes are transformed into a unified first-order equation, which is solved simultaneously. The orthogonal complement matrix of the constraint equation is proposed to eliminate the nonlinear constraints. A strategy based on energy preservation was proposed to update the reduced-order basis vectors, which improved the calculation accuracy and efficiency. Finally, a systematic method for rigid–flexible–thermal coupled viscoelastic multibody systems via modal truncation with complex global modes is developed. Full article
(This article belongs to the Section Aerospace Actuators)
Show Figures

Figure 1

11 pages, 726 KB  
Article
Laboratory and Microbiological Considerations in Sepsis-Induced Cardiac Dysfunction
by Catalina Paraschiv, Denisa Oana Nicolaescu, Mihaela Roxana Popescu, Carmen Cristina Vasile, Emanuel Moisa, Silvius Ioan Negoita and Serban Mihai Balanescu
Medicina 2025, 61(10), 1765; https://doi.org/10.3390/medicina61101765 - 30 Sep 2025
Abstract
Introduction: Sepsis-induced cardiac dysfunction (SICD) is a transient cardiac disfunction, with variable described prevalence and uncertain prognostic. This study aimed to characterize the laboratory and microbiological findings in critically ill patients with sepsis who developed left ventricular (LV) or biventricular systolic dysfunction. [...] Read more.
Introduction: Sepsis-induced cardiac dysfunction (SICD) is a transient cardiac disfunction, with variable described prevalence and uncertain prognostic. This study aimed to characterize the laboratory and microbiological findings in critically ill patients with sepsis who developed left ventricular (LV) or biventricular systolic dysfunction. Methods: Patients who required intensive care unit hospitalization for sepsis were screened retrospectively. Only patients with positive cultures and echocardiography performed within 24 h from admission were included. The exclusion criteria were infective endocarditis, acute coronary syndrome, history of cardiomyopathy, severe valve disease, end-stage organ or oncological disease. Cardiac function was appreciated on transthoracic echocardiography, using LV ejection fraction for the left ventricle and tricuspid annular plane systolic excursion (TAPSE) for the right ventricle. SICD was confirmed if the systolic dysfunction found upon admission was reversible within 7–10 days. Results: A total of 100 patients with positive cultures were included. The median age was 73 and 55% were male. SICD was diagnosed in 14% of patients. Patients with SICD were more likely to develop septic shock and had longer hospital and intensive care unit stay. In-hospital mortality was 44% with no significant difference between SICD and non-SICD patients. Laboratory markers upon hospital admission showed that SICD patients had significantly higher values of lactate and transaminases. Cardiac (troponin and NT-proBNP) and inflammation markers (leukocytes, neutrophils, NLR, C-reactive protein, procalcitonin) had higher values in patients with SICD but the difference did not reach statistical significance. Streptococcal infections and polymicrobial cultures were risk factors for developing SICD. Higher rates of infections with Enterobacterales were seen in the SICD group but the difference was not significant. Conclusions: SICD patients had higher lactate, inflammation, and cardiac biomarkers levels upon admission and significantly higher rates of streptococcal infections and polymicrobial cultures. Full article
Show Figures

Graphical abstract

11 pages, 2474 KB  
Case Report
Synchronous Cardiac Fibroma and Medulloblastoma in Gorlin Syndrome: A Paradigmatic Case and Narrative Review
by Marta Molteni, Gianluca Trocchio, Antonio Verrico, Maria Derchi, Nicola Stagnaro, Angela Di Giannatale, Paola Ghiorzo, Alessia Montaguti, Antonia Ramaglia, Claudia Milanaccio, Gianluca Piccolo and Maria Luisa Garrè
Children 2025, 12(10), 1314; https://doi.org/10.3390/children12101314 - 30 Sep 2025
Abstract
Background: Gorlin syndrome (GS) is a rare autosomal dominant disorder, associated with pathogenic PTCH1 or SUFU variants, predisposing to tumors such as basal cell carcinoma, medulloblastoma (MB), odontogenic keratocyst, and, rarely, cardiac fibroma (CF). MB occurs in ~5% of GS cases, typically in [...] Read more.
Background: Gorlin syndrome (GS) is a rare autosomal dominant disorder, associated with pathogenic PTCH1 or SUFU variants, predisposing to tumors such as basal cell carcinoma, medulloblastoma (MB), odontogenic keratocyst, and, rarely, cardiac fibroma (CF). MB occurs in ~5% of GS cases, typically in early childhood, while CF appears in 1–3%. Their coexistence in childhood is extremely rare. This report describes a pediatric GS case with synchronous MB and CF, focusing on the management priorities between oncologic and cardiac interventions. Methods: A 15-year follow-up is reported for a girl diagnosed at 22 months with desmoplastic/nodular MB and left ventricular CF. GS diagnosis was based on clinical features, imaging, and confirmation of a pathogenic PTCH1 variant (c.3306+1G>T). A literature narrative review on CF in GS was also conducted. Results: MB gross total resection was followed by chemotherapy, during which ventricular tachycardia episodes occurred, managed with cardioversion and antiarrhythmics. Given the favorable prognosis of early-treated MB in GS, oncologic therapy was prioritized. Cardiac status was monitored with ECG, Holter, echocardiography, and cardiac MRI. An adapted AIEOP protocol minimized cardiotoxicity. CF was managed conservatively, with no further arrhythmias and preserved ventricular function throughout 15 years. MB has not recurred. Conclusions: In GS patients with concurrent MB and CF, prioritizing MB treatment and adopting a conservative, closely monitored approach to CF can yield excellent long-term outcomes. In children with MB, especially syndromic forms, routine echocardiography is recommended to detect CF. This case underscores the value of multidisciplinary care in managing complex GS presentations. Full article
(This article belongs to the Section Pediatric Hematology & Oncology)
Show Figures

Figure 1

21 pages, 840 KB  
Article
Description of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care Situation
by Nadia Kokaly, Helena Guerreiro, Janna Bredow, Steffi Dreha-Kulaczewski, Andreas Ohlenbusch, Wolfgang Köhler, Tabea Reinhardt, Gerhard Schön, Alexander E. Volk, Helen Sigel and Annette Bley
J. Clin. Med. 2025, 14(19), 6918; https://doi.org/10.3390/jcm14196918 - 29 Sep 2025
Abstract
Background: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed [...] Read more.
Background: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed the most frequent symptoms of nine AxD cases, classified them according to published classifications, and described the need of care and support. Results: The description of the courses of disease of nine cases with AxD reflects the broad spectrum of different phenotypes of AxD, with often occurring apnoea. Data about care and support for AxD patients indicate a high and heterogeneous need of support. Treatment with steroids reduced symptoms in two patients. Some patients showed lasting improvement during their course of disease. Conclusions: The course of AxD is very heterogeneous. Thus, we extracted relevant key features to describe the severity of the disease, namely feeding problems, epilepsy, age-appropriate motor function, failure to thrive, age-appropriate language and apnoea. We recommend early evaluation for clinical care and support. For some AxD patients, treatment with steroids may alleviate symptoms. Further development of efficient treatments is necessary. Full article
(This article belongs to the Section Clinical Neurology)
Show Figures

Figure 1

29 pages, 4385 KB  
Review
The Dual Role of Astrocytes in CNS Homeostasis and Dysfunction
by Aarti Tiwari, Satyabrata Rout, Prasanjit Deep, Chandan Sahu and Pradeep Kumar Samal
Neuroglia 2025, 6(4), 38; https://doi.org/10.3390/neuroglia6040038 - 29 Sep 2025
Abstract
Astrocytes are the most common type of glial cell in the central nervous system (CNS). They have many different functions that go beyond just supporting other cells. Astrocytes were once thought of as passive parts of the CNS. However, now they are known [...] Read more.
Astrocytes are the most common type of glial cell in the central nervous system (CNS). They have many different functions that go beyond just supporting other cells. Astrocytes were once thought of as passive parts of the CNS. However, now they are known to be active regulators of homeostasis and active participants in both neurodevelopmental and neurodegenerative processes. This article looks at the both sides of astrocytic function: how they safeguard synaptic integrity, ion and neurotransmitter balance, and blood-brain barrier (BBB) stability, as well as how astrocytes can become activated and participate in the immune response by releasing cytokines, upregulating interferons, and modulating the blood–brain barrier and inflammation disease condition. Astrocytes affect and influence neuronal function through the tripartite synapse, gliotransmission, and the glymphatic system. When someone is suffering from neurological disorders, reactive astrocytes become activated after being triggered by factors such as pro-inflammatory cytokines, chemokines, and inflammatory mediators, these reactive astrocytes, which have higher levels of glial fibrillary acidic protein (GFAP), can cause neuroinflammation, scar formation, and the loss of neurons. This review describes how astrocytes are involved in important CNS illnesses such as Alzheimer’s disease, Parkinson’s disease, multiple sclerosis, amyotrophic lateral sclerosis, and ischemia. It also emphasizes how these cells can change from neuroprotective to neurotoxic states depending on the situation. Researchers look at important biochemical pathways, such as those involving toll-like receptors, GLP-1 receptors, and TREM2, to see if they can change how astrocytes respond. Astrocyte-derived substances, including BDNF, GDNF, and IL-10, are also essential for protecting and repairing neurons. Astrocytes interact with other CNS cells, especially microglia and endothelial cells, thereby altering the neuroimmune environment. Learning about the molecular processes that control astrocytic plasticity opens up new ways to treat glial dysfunction. This review focuses on the importance of astrocytes in the normal and abnormal functioning of the CNS, which has a significant impact on the development of neurotherapeutics that focus on glia. Full article
Show Figures

Figure 1

15 pages, 1942 KB  
Article
Predictive URANS/PDF Modeling of Unsteady-State Phenomena in Turbulent Hydrogen–Air Flames
by Mohamed Boukhelef, Mohammed Senouci, Mounir Alliche, Habib Merouane and Abdelhamid Bounif
Fluids 2025, 10(10), 258; https://doi.org/10.3390/fluids10100258 - 29 Sep 2025
Abstract
The escalating global demand for primary energy—still predominantly met by conventional carbon-based fuels—has led to increased atmospheric pollution. This underscores the urgent need for alternative energy strategies capable of reducing carbon emissions while meeting global energy requirements. Hydrogen, as a clean combustible fuel, [...] Read more.
The escalating global demand for primary energy—still predominantly met by conventional carbon-based fuels—has led to increased atmospheric pollution. This underscores the urgent need for alternative energy strategies capable of reducing carbon emissions while meeting global energy requirements. Hydrogen, as a clean combustible fuel, offers a promising alternative to hydrocarbons, producing neither soot, CO2, nor unburned hydrocarbons. Although nitrogen oxides (NOx) are the primary combustion by-products, their formation can be mitigated by controlling flame temperature. This study investigates the viability of hydrogen as a clean energy vector by simulating an unsteady, turbulent, non-premixed hydrogen jet flame interacting with an air co-flow. The numerical simulations employ the Unsteady Reynolds-Averaged Navier–Stokes (URANS) framework for efficient and accurate prediction of transient flow behavior. Turbulence is modeled using the Shear Stress Transport (SST k-ω) model, which enhances accuracy in high Reynolds number reactive flows. The combustion process is described using a presumed Probability Density Function (PDF) model, allowing for a statistical representation of turbulent mixing and chemical reaction. The simulation results are validated by comparison with experimental temperature and mixture fraction data, demonstrating the reliability and predictive capability of the proposed numerical approach. Full article
(This article belongs to the Special Issue Turbulence and Combustion)
Show Figures

Figure 1

Back to TopTop