Search Results (254)

Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article

In the process of the work of a coal power station is formed ash and slag, which, along with process water, are deposited in the dumps. Coal ash waste dumps significantly degrade the surrounding environment due to their unprotected surfaces, which are highly susceptible to wind and water erosion. This results in the dispersion of contaminants into adjacent ecosystems. Pollutants migrate into terrestrial and aquatic systems, compromising soil quality and water resources, and posing documented risks to the environment and human health. Primary succession on the coal ash dumps of the Apatity thermal power plant (Murmansk Region, NW Russia) was initiated by cyanobacterial colonization. We studied cyanobacterial communities inhabiting three spoil sites that varied in time since decommissioning. These sites are characterized by exceptionally high concentrations of calcium and magnesium oxides—levels approximately double those found in the region’s natural soils. A total of 18 cyanobacterial taxa were identified in disposal sites. Morphological analysis of visible surface crusts revealed 16 distinct species. Furthermore, 24 cyanobacterial strains representing 11 species were successfully isolated into unialgal culture and tested with a molecular genetic approach to confirm their identification from 16S rRNA. Three species were determined with molecular evidence. Cyanobacterial colonization of coal fly ash disposal sites begins immediately after deposition. Primary communities initially exhibit low species diversity (four taxa) and do not form a continuous ground cover in the early years. However, as succession progresses—illustrated by observations from a 30-year-old deposit—spontaneous surface revegetation occurs, accompanied by a marked increase in cyanobacterial diversity, reaching 12 species. Full article

Background: Autism spectrum disorder (ASD) is characterised by atypical behavioural and cognitive diversity, yet the neural underpinnings linking brain activity and individual presentations remain poorly understood. In this study, we investigated the relationship between resting-state functional magnetic resonance imaging (fMRI) signal complexity and intelligence (full-scale intelligence quotient (FIQ); verbal intelligence quotient (VIQ); and performance intelligence quotient (PIQ)) in male adults with ASD (n = 14) and matched neurotypical controls (n = 15). Methods: We used three complexity-based metrics: Hurst exponent (H), fuzzy approximate entropy (fApEn), and fuzzy sample entropy (fSampEn) to characterise resting-state fMRI signal dynamics, and correlated these measures with standardised intelligence scores. Results: Using a whole-brain measure, ASD participants showed significant negative correlations between PIQ and both fApEn and fSampEn, suggesting that increased neural irregularity may relate to reduced cognitive–perceptual performance in autistic individuals. No significant associations between entropy (fApEn and fSampEn) and PIQ were found in the control group. Group differences in brain–behaviour associations were confirmed through formal interaction testing using Fisher’s r-to-z transformation, which showed significantly stronger correlations in the ASD group. Complementary regression analyses with interaction terms further demonstrated that the entropy (fApEn and fSampEn) and PIQ relationship was significantly moderated by group, reinforcing evidence for autism-specific neural mechanisms underlying cognitive function. Conclusions: These findings provide insight into how cognitive functions in autism may not only reflect deficits but also an alternative neural strategy, suggesting that distinct temporal patterns may be associated with intelligence in ASD. These preliminary findings could inform clinical practice and influence health and social care policies, particularly in autism diagnosis and personalised support planning. Full article

Weeksella virosa (W. virosa) is a rare, non-saccharolytic Gram-negative bacterium initially described in the 1970s, later proposed as a distinct genus in 1986. The genus Weeksella currently contains two species, namely W. virosa and W. massiliensis. Although primarily considered non-pathogenic, recent evidence has linked W. virosa to a limited number of clinical infections, mostly in immunocompromised patients. This review aims to consolidate the current body of knowledge on W. virosa, encompassing its microbiological and biochemical characteristics, involvement in human and animal infections, antimicrobial susceptibility profiles, and a critical evaluation of existing diagnostic methodologies. This review includes 13 case reports detailing 16 human cases retrieved from multiple databases, highlighting diagnostic inconsistencies and a lack of standardized antimicrobial susceptibility testing. Although W. virosa is generally susceptible to most antibiotics with the exception of aminoglycosides, recent reports seem to suggest a possible emerging resistance trend. The presence of this organism in hospital environments raises concerns about its potential transmission within healthcare settings. While biochemical testing appears to offer reasonably accurate identification of W. virosa, molecular confirmation may be warranted in some cases mainly due to the organism’s rarity. The reliability of MALDI-TOF MS for the identification of W. virosa remains currently uncertain. Further studies, including electron microscopy and genome-wide analysis, are urgently needed to clarify the pathogenic potential of this bacterium and guide clinical management. This review underscores the necessity for awareness among clinicians and microbiologists regarding this underrecognized pathogen. Full article

The spread of computer viruses represents a major challenge to digital security, underscoring the need for a deeper understanding of their propagation mechanisms. This study examines the stability and chaotic dynamics of a fractional discrete Susceptible-Infected (SI) model for computer viruses, incorporating commensurate and incommensurate types of fractional orders. Using the basic reproduction number $R_0$, the derivation of stability conditions is followed by an investigation of how varying fractional orders affect the system’s behavior. To explore the system’s nonlinear chaotic behavior, the research of this study employs a suite of analytical tools, including the analysis of bifurcation diagrams, phase portraits, and the evaluation of the maximum Lyapunov exponent (MLE) for the study of chaos. The model’s complexity is confirmed through advanced complexity algorithms, including spectral entropy, approximate entropy, and the $0-1$ test. These measures offer a more profound insight into the complex behavior of the system and the role of fractional order. Numerical simulations provide visual evidence of the distinct dynamics associated with commensurate and incommensurate fractional orders. These results provide insights into how fractional derivatives influence behaviors in cyberspace, which can be leveraged to design enhanced cybersecurity measures. Full article

The aim of this study was to compare the types, textile structures, labels, and fiber compositions of 64 red garments submitted as evidence in selected criminal cases between 2022 and 2024. The research enhanced the current knowledge of the characteristics of red clothing available to consumers and demonstrated the relevance of textile analysis in forensic science. Knitted fabrics were the most commonly used in the garments, followed by woven fabrics, nonwovens, and felts. Fiber identification focused on color and shade, generic classification, morphological structure, and chemical composition, revealing both similarities and distinctions among the samples. In a small percentage of cases, label information was found to be inaccurate. The study also examined the fiber content of threads, patches, logos, prints, and embroidery, underscoring the forensic potential of these often-overlooked elements. The identification of over 300 individual fibers enabled a critical evaluation of the analytical procedures and confirmed their effectiveness in forensic contexts. Full article

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder primarily affecting motor neurons. Emerging evidence suggests it also involves multiple organs, including potential cardiac manifestations. This study aimed to evaluate cardiac abnormalities in pediatric SMA patients compared to age-matched healthy controls, providing insight into underlying cardiomyopathy in this population. A total of 126 children were included in the study, with 63 SMA patients and 63 age-matched controls. We conducted clinical examinations, standard electrocardiography (ECG), and cardiac ultrasound (CUS) in all patients. Electrocardiographic analysis revealed a higher prevalence of sinus tachycardia in the SMA group and significantly deeper Q waves, indicating possible myocardial involvement. Echocardiographic findings demonstrated a significant reduction in left ventricular mass and left ventricular mass index in SMA patients compared to controls, despite normal systolic function. Statistical analysis confirmed that SMA diagnosis was an independent predictor of reduced myocardial mass, suggesting a distinct cardiac phenotype in SMA patients. This study provides new evidence of subclinical cardiac involvement in SMA, characterized by reduced myocardial mass, altered electrocardiographic parameters, and increased sinus tachycardia. These findings suggest a previously unrecognized form of cardiomyopathy in SMA that differs from cardiac manifestations typically seen in other neuromuscular disorders. Full article

The solid solution cooling heat treatment of powder, high-temperature alloys is a crucial part of the process for ensuring the strength of materials during the forging processing. The influence of the γ′ phase and other microstructures in high-temperature alloy forgings on their macroscopic mechanical properties has been confirmed in numerous studies. Among them, the performance of the γ′ phase during the solid solution cooling process varies significantly depending on the cooling rate. This study uses the FGH99 nickel-based high-temperature alloy as the research material. It examines the precipitation and microstructure evolution law of the material under different cooling rates and its impact on the macroscopic mechanical properties of the material. Additionally, a prediction model of the organizational properties based on the cooling rate is constructed. The research findings indicate that there is a distinct positive correlation between the yield strength of the material and the cooling rate. As the cooling rate increases, the yield strength rises from 910.8 MPa to 1025.4 MPa, showing an increase of 12.6%. Moreover, an increase in the cooling rate has an evident promoting effect on the refinement of the precipitation phase. When the cooling rate is elevated from 50 °C/min to 250 °C/min, the average size of the γ′ phase decreases from 106 nm to 82.1 nm, and its morphology transforms from an irregular state to a spherical shape. For the microstructure of the material, such as the size of the precipitated phase and dislocation density, the maximum prediction error of the heat treatment organization performance prediction model established in this study is 2.97%. Moreover, the prediction error of the yield strength is 1.76%. Full article

Microplastics (MPs) are becoming one of the most serious environmental threats worldwide. They have been shown to induce male reproductive toxicity in animal studies. However, evidence of their adverse effects on male reproductive health in human is still lacking. In this study, we evaluated the presence of MPs in human semen and explored their associations with semen quality. A total of 45 semen samples from men attending a fertility center were collected. MPs in the semen samples were analyzed by laser direct infrared (LD-IR) spectroscopy. MPs were found in 34 out of 45 semen samples, with an average abundance of 17.0 (42.0) particles/g. The size of MPs ranged from 20.3 μm to 189.7 μm and the majority (57.8%) were smaller than 50 μm. A total of 15 distinct MPs polymers were identified, and polyethylene (PET) accounted for 35.9% of the total amount of MPs, followed by butadiene rubber (BR, 26.4%) and chlorinated polyethylene (CPE, 12.2%). Analysis of the association of MP exposure with semen quality showed that participants exposed to PET MPs experienced a reduction in sperm progressive motility (20.6% ± 12.8% vs. 34.9% ± 15.9%, p = 0.056). However, no significant association was found between MP exposure and sperm concentration or total sperm count. Our findings confirmed the presence of MPs in human semen and suggested that MP exposure might have adverse impacts on male reproductive health. However, further large-scale studies are needed to confirm these findings. Full article

In pipe jacking construction, thixotropic slurry critically governs lubrication, friction reduction, and ground support. This study evaluated slurry performance through six parameters: specific gravity (SG), pH, fluid loss (FL), water separation rate (WSR), filter cake thickness (FCT), and funnel viscosity (FV). Orthogonal experiments optimizing bentonite, carboxymethyl cellulose (CMC), and sodium carbonate (Na₂CO₃) ratios established 10 wt.% bentonite, 0.3 wt.% CMC, and 0.4 wt.% Na₂CO₃ as the optimal formulation. Subsequently, to address performance limitations in challenging conditions, this study introduces hydroxyethyl cellulose (HEC) as a novel additive, with potential advantages under high-salinity and variable pH conditions. Comparative experiments demonstrated that HEC, as a non-ionic water-soluble cellulose, not only significantly increases FV and reduces FL while maintaining SG, FCT, and WSR within acceptable thresholds, but also exhibits superior pH stability compared to CMC. Based on the aforementioned results, interface friction characterization tests were conducted on representative slurry formulations with varying FVs, quantitatively demonstrating the viscosity-dependent friction-reduction performance. Complementary scanning electron microscopy (SEM) analysis of three distinct thixotropic slurry compositions systematically revealed their microstructural characteristics, with microscopic evidence confirming the excellent compatibility between HEC and thixotropic slurry matrix. These findings highlight HEC’s potential as an effective alternative in pipe jacking, particularly in demanding geological environments. Full article

Klebsiella pneumoniae, a zoonotic pathogen of global concern, poses significant threats to both veterinary and public health. Here, a comparative study characterized 14 clinical isolates (7 avian-derived, 7 human-derived) from Jiangsu, China, through integrated genomic and phenotypic analyses. Firstly, multilocus sequence typing (MLST) revealed distinct epidemiological patterns: the same ST type in avian isolates was circulating between different species and different regions, whereas it was not found in human isolates. In addition, hypervirulent Klebsiella pneumoniae (hvKP) phenotypes confirmed by string test were exclusive to two human isolates (KP15, KP20). Secondly, biofilm detection demonstrated 78.6% (11/14) of isolates possessed biofilm-forming capacity, with cellulose but not curli as the predominant matrix component. Human-derived KP15 and KP20 had the strongest biofilm formation ability in all isolates. Antimicrobial susceptibility profiling identified serious multidrug resistance in both avian and human isolates. Virulence gene analysis revealed striking disparities, with human isolates harboring 10–20 virulence factors (median 15) versus 6–7 (median 6.5) in avian counterparts. Finally, functional pathogenesis assessments demonstrated human-derived strains exhibited stronger epithelial cell adhesion (2-fold higher) and invasion (1.97-fold higher) in Calu-3 cell models and paradoxically showed reduced macrophage phagocytosis (2.85-fold lower at 2 h) for immune escape. In vivo models confirmed dose-dependent mortality, with human isolates demonstrating higher lethality in both Galleria mellonella and mice. Virulence gene burden positively correlated with mortality outcomes. These findings delineate critical host adaptation differences in Klebsiella pneumoniae populations and provide empirical evidence for pathogen transmission dynamics at the human-animal interface. Full article

The cosmopolitan nematode Spirinia parasitifera has long been considered a single, morphologically variable species; however, mounting molecular evidence suggests that it represents a complex of cryptic taxa. In this study, we describe Spirinia koreana sp. nov., a new species collected from intertidal sediments of the Republic of Korea. The new species exhibits a high degree of morphological resemblance to both S. antipodea and S. parasitifera, with overlapping ranges in most morphological traits. While certain measurements, such as relatively shorter body length, more slender form (higher a ratio), moderately long tail length, and shorter spicule length differ from those in some described populations, no single morphological character alone reliably separates S. koreana from all previously reported specimens of S. parasitifera or S. antipodea. Nevertheless, molecular evidence from multiple genetic markers clearly supports its distinction as a separate species. Molecular data from mitochondrial COI, 18S rRNA, and 28S rRNA genes confirm the genetic distinctness of the Korean specimens from S. parasitifera and S. antipodea. Notably, S. koreana sp. nov. differs from other Spirinia species by 2.1–3.4% in 18S and up to 34.4% in 28S sequences, surpassing thresholds previously used to delimit marine nematode species. Our results emphasize the value of integrative taxonomy combining fine-scale morphology and multi-marker molecular data to uncover hidden diversity in meiofaunal nematodes. Full article

Background and Aim: Floating aortic thrombi are rare but potentially life-threatening entities, associated with a high risk of systemic embolization and subsequent complications such as ischemic stroke or mesenteric infarction. Therapeutic strategies range from urgent surgical intervention to conservative medical management with anticoagulation, depending on the patient’s clinical status and thrombus morphology. This report presents two cases of floating aortic thrombi managed with distinct approaches, surgical and medical, underscoring the importance of individualized treatment guided by embolic risk and comorbidities. Patients and Methods: The first case involves a 59-year-old male presenting with abdominal pain and emesis. Imaging confirmed mesenteric ischemia, necessitating emergent laparotomy and extensive jejunal resection. Postoperative imaging identified a mobile thrombus at the ascending aorta–aortic arch junction, with evidence of cerebral embolism. The patient underwent urgent surgical thrombectomy, ascending aortic resection, and hemiarch replacement. The second case describes an 88-year-old male who presented with bilateral upper limb paresthesia. Neuroimaging revealed acute supra- and infratentorial ischemic lesions suggestive of embolic stroke. A floating thrombus was identified in the ascending aorta, with an additional thrombus in the descending thoracic aorta. Given the patient’s advanced age, comorbid conditions, and thrombus stability, a conservative approach with systemic anticoagulation and close radiologic surveillance was chosen. Conclusions: These cases illustrate the need for tailored management of floating aortic thrombi. While surgical resection remains indicated in unstable or high-risk embolic cases, anticoagulation may suffice for stable lesions in patients with elevated surgical risk. Further studies are needed to establish standardized therapeutic guidelines. Full article

Adaptive radiations are characterized by increases in rates of lineage and trait evolution, typically due to the opening of new ecological opportunities such as may follow from dispersal to a new region or the evolution of a trait that allows exploitation of new niches. This results in clades that have accumulated unusually high biological diversity within a relatively short evolutionary timespan and hence the phenomenon has attracted longstanding interest amongst evolutionary biologists. Natricidae is a family of snakes with a primarily Old World distribution but which have colonized the New World on a single occasion. This dispersal event coincides with an increased speciation rate that has led to a species-rich New World clade. Herein, we take a phylogenetic comparative approach to investigate a likely adaptive radiation of New World natricids. We first confirmed previously reported findings of a single origin (providing new ecological opportunity) coinciding with a burst of lineage diversification. We then estimate the rates of evolution for three ecologically important traits (body size and broad categories of diet and habitat) separately for New World and Old World natricids. Of these three traits, our results provide evidence that only transition rates between terrestrial and (semi-)aquatic habitats are higher in the New World clade. Taken together, this supports a scenario of an adaptive radiation in natricids primarily associated with differentiation by habitat as the clade spread across the New World following its arrival there. Considering other adaptive radiations alongside our evidence for Natricidae, we propose the hypothesis that there is a common distinction between spatially constrained ‘island’ adaptive radiations (which often diverge along trophic axes) and continental adaptive radiations, which diverge as the clade spreads across a larger spatial scale and adapts to different habitats. Full article

Flight behavior in pigeons is governed by intricate neural mechanisms that regulate movement patterns and flight dynamics. Among various kinematic parameters, flight acceleration provides critical information for the brain to modulate movement intensity, speed, and direction. However, the neural representation mechanisms underlying flight acceleration remain insufficiently understood. To address this, we conducted outdoor free-flight experiments in homing pigeons, during which GPS data, flight posture, and eight-channel local field potentials (LFPs) were synchronously recorded. Our analysis revealed that gamma-band activity in the dorsal intermediate arcopallium (AId) region was more prominent during behaviorally demanding phases of flight. In parallel, local functional network analysis showed that the clustering coefficient of gamma-band activity in the AId followed a nonlinear, U-shaped relationship with flight acceleration—exhibiting the strongest and most widespread connectivity during deceleration, moderate connectivity during acceleration, and the weakest network coupling during steady flight. This pattern likely reflects the increased neural demands associated with flight phase transitions, where greater cognitive and sensorimotor integration is required. Furthermore, using LFP signals from five distinct frequency bands as input, machine learning models were developed to decode flight acceleration, further confirming the role of gamma-band dynamics in motor regulation during natural flight. This study provides the first evidence that gamma-band activity in the avian AId region encodes flight acceleration, offering new insights into the neural representation of motor states in natural flight and implications for bio-inspired flight control systems. Full article