Search Results (842)

Each year, many neonates are born with genetic diagnoses that carry a range of prognoses. As the types and availability of genetic testing have expanded, neonatal intensive care units (NICUs) have served as “launching points” for their clinical application. Broad genetic testing has both improved diagnostic precision and expanded uncertainty. Genetic information may be explicitly uncertain, as in the case of a variant of unknown significance (VUS). But it is also frequently uncertain whether/how the information relates to a patient’s phenotype or what it may mean for a child’s future. Even without ambiguity in the diagnosis or prognosis, the significance within a clinical and familial context may be less certain. Applying the information to clinical care is complex and may engender confusion among clinicians and families as readily as it offers guidance. Since genetic testing results can impact management and, at times, end-of-life decisions, misunderstanding and misapplication of genetic results pose a significant risk. We describe a hypothetical case of an infant with congenital hypotonia and respiratory failure. The family, after discussions with the care team about medically appropriate care paths, is navigating goals of care and considering tracheostomy placement for chronic mechanical ventilation. They consent to rapid genome sequencing in hopes of better understanding the etiology and severity of the neuromuscular condition. We explore three possible scenarios following different genomic results. With each, we discuss how the results may impact decision-making about the best plan of care. We propose a framework for navigating discussions about genetic testing results with families of critically ill children. We illustrate the importance of a multidisciplinary approach with collaboration between neonatology, genetics, and palliative care. By employing the strengths of each subspecialty, providers can manage the inherent uncertainty in genetic testing results, help determine the meaning of the results to the family in the context of their child’s medical care, and enhance the care and support of critically ill neonates and their families. Full article

Cardiac amyloidosis is an underdiagnosed cause of heart failure characterized by extracellular deposition of misfolded proteins. Advances in non-invasive imaging, including echocardiography, cardiac magnetic resonance imaging (CMR), and radionuclide imaging, have significantly enhanced the diagnostic accuracy and monitoring of cardiac amyloidosis. This review explores the role of each modality, their individual strengths, and current consensus recommendations. Emphasis is placed on the integration of multimodal imaging to guide diagnosis, prognosis, and therapeutic decisions in both AL and ATTR amyloidosis. Full article

Land degradation in drylands increasingly threatens infrastructure and the performance of renewable energy (RE) systems through coupled hydro-chemo-mechanical changes in soil fabric, density, matric suction, and pore–water chemistry. A key gap is the limited integration of unsaturated soil mechanics with practical indicator sets used in engineering screening and operations. This narrative review synthesizes evidence from targeted searches of Scopus, Web of Science, and Google Scholar. Searches are complemented by key organizational reports and standards, as well as citation tracking. Priority is given to sources that report mechanisms linked to measurable indicators, thresholds, tests, or models relevant to dryland infrastructure. The synthesis uses the soil-water characteristic curve (SWCC) and hydraulic conductivity k(θ) to connect hydraulic state to strength and deformation and couples these with chemical indices, including electrical conductivity (EC), exchangeable sodium percentage (ESP), and sodium adsorption ratio (SAR). Practical diagnostics include the dynamic cone penetrometer (DCP) and California Bearing Ratio (CBR) tests, infiltration and crust-strength tests, monitoring with unmanned aerial vehicles (UAVs), geophysics, and in situ moisture and suction sensing. The contribution is an indicator-driven, practice-oriented framework linking mechanisms, monitoring, and mitigation for photovoltaic (PV), concentrating solar power (CSP), wind, transmission, and well-pad corridors. This framework is implemented by consistently linking unsaturated soil state (SWCC, k(θ), and matric suction) to degradation processes, measurable indicator/test sets, and trigger-based interventions across the review. Full article

Background/Objectives: The sella turcica (ST) is a central craniofacial and endocrinological landmark whose morphology reflects both local skeletal development and systemic influences. Alterations in its form have been observed in various genetic syndromes, including trisomy 21 (Down syndrome, DS). Considering the characteristic craniofacial morphology of DS, this review aimed to evaluate whether individuals with DS present distinctive morphometric features and shape variants of the ST compared with non-syndromic populations and to discuss their diagnostic and clinical relevance. Methods: A systematic literature search was carried out in PubMed, the Cochrane Library, Web of Science, Wiley, MDPI, and Google Scholar on 8 May 2024. Search terms included “sella turcica,” “Down syndrome,” and “morphology.” Studies employing lateral cephalograms, cone-beam computed tomography (CBCT), or computed tomography (CT) to assess ST morphology were included when quantitative or qualitative comparisons with control groups were available. The review followed the PRISMA 2020 guidelines and was prospectively registered in PROSPERO (CRD42024580071). Results: Only six studies fulfilled the inclusion criteria. Increased ST dimensions and a predominance of U-shaped and J-shaped variants in individuals with DS compared with controls were most frequently reported. Although the studies differed in methodology, the findings consistently indicated characteristic enlargement and remodeling of the ST in trisomy 21. Conclusions: Individuals with Down syndrome exhibit distinctive sella turcica morphology characterized by increased size and specific shape variants. The evidence base remains small and heterogeneous, with few observational studies and mixed age groups and imaging modalities, which limits the strength and generalizability of the conclusions. The present study aims to provide a modern, updated systematic review of current evidence on sella turcica morphology in patients with Down syndrome, to identify reported patterns of variation, and to explore their clinical and diagnostic significance. Recognition of these features enhances diagnostic accuracy in craniofacial evaluation, facilitates comprehensive orthodontic, endocrine, and oncological assessment, and advances understanding of cranial base development within the context of genetic syndromes. Full article

The study presents a comprehensive analysis of the effects of high temperatures (500 °C and 700 °C) on the microstructure, mechanical properties, and acoustic emission (AE) parameters of cold-drawn prestressing steel. The investigations included mechanical testing, AE signal acquisition, and numerical verification using the finite element method (FEM). It was demonstrated that increasing temperature leads to significant microstructural changes (pearlite spheroidisation, carbide coarsening), resulting in strength degradation and a shift in the failure mechanism from quasi-brittle (initial state) to transitional (500 °C), and finally to ductile (700 °C). For the first time, AE parameters (Counts to Peak and RA-value) were correlated with local axial strains ε₂₂ and von Mises equivalent stress, enabling the identification of the moment of onset load-bearing capacity loss and the determination of critical material damage thresholds. A multi-criteria diagnostic indicator was proposed to assess the condition of prestressing steel after fire exposure. The results confirm the high potential of AE as a non-invasive tool for evaluating the safety of prestressing tendons and cables in reinforced concrete structures subjected to overheating or fire. Full article

Non-obstructive coronary artery disease (NOCAD) encompasses a heterogeneous group of conditions in which patients present with angina, ischemia or myocardial infarction despite the absence of obstructive epicardial stenoses. This spectrum includes myocardial infarction with non-obstructive coronary arteries (MINOCA) and angina or ischemia with non-obstructive coronary arteries (ANOCA/INOCA), entities increasingly recognized as clinically significant and associated with adverse outcomes. Advances in cardiac computed tomography (CT) have expanded the diagnostic capabilities beyond the exclusion of obstructive coronary artery disease, enabling comprehensive anatomical, functional and tissue-level assessment relevant to NOCAD. CT allows precise identification of non-obstructive atherosclerosis, high-risk plaque features, myocardial bridging and structural vascular remodelling. Quantitative and qualitative characterization of plaque burden correlates with ischemic risk and provides prognostic information that complements traditional stenosis-based evaluation. Emerging CT-derived biomarkers, such as pericoronary fat attenuation index and epicardial adipose tissue metrics, offer insight into vascular inflammation and microvascular dysfunction, key mechanisms in NOCAD. Functional CT techniques, such as CT-derived fractional flow reserve and CT perfusion imaging, enable non-invasive assessment of hemodynamic significance and microvascular impairment, although their routine use is limited by methodological variability and evolving clinical evidence. Beyond coronary evaluation, CT also provides myocardial tissue characterization, detects extracardiac causes of symptoms and contributes to comprehensive differential diagnosis. Despite its strengths, cardiac CT remains limited by spatial resolution, radiation exposure and its inability to directly visualize the microcirculation. Nevertheless, ongoing technological refinement and integration of computational modelling are likely to enhance its diagnostic and prognostic role. Full article

The recognition of trauma-induced coagulopathy (TIC) as an endogenous response to traumatic injuries rather than a consequence of therapeutic interventions has shifted the clinical approach toward an early and physiologically based hemostatic resuscitation. Prompt identification and correction of fibrinolysis and fibrinogen level derangements, dysregulated thrombin generation, and platelet dysfunction represent the cornerstones of the treatment strategies. Currently available viscoelastic hemostatic assays (VHAs) are point-of-care devices able to rapidly assess the phases of clot initiation, propagation, stabilization, and degradation, as well as isolate the contribution of specific elements—e.g., fibrinogen—to the coagulation process in fully automated analyses by multi-channel single-use cartridges. As a result, in the last decade, VHAs have been widely investigated as tools to implement individualized protocols of hemostatic resuscitation. Current guidelines support their use to optimize transfusion load in a goal-directed strategy. Nevertheless, contrasting evidence has emerged regarding the improvement in main clinical outcomes induced by the VHA-based algorithm of hemostatic resuscitation compared with those guided by conventional coagulation tests, and their place in the management of this peculiar population is still a matter of debate. We propose a narrative review ranging from TIC physiopathology as a proper substrate for viscoelastic diagnostic technique, through the strengths and weaknesses of VHAs, to their application in clinical practice. Full article

Background/Objectives: Ocular Allergy (OA) has profound effects on the quality of life (QoL) and ocular health of affected individuals. This study aimed to survey health practitioners in Australia on their knowledge and practices regarding currently available evidence-based diagnostic, treatment, and collaborative care approaches to OA. Methods: The Survey on Ocular Allergy for Health Practitioners (SOAHP), a validated tool, was distributed to various health practitioners across Australia in 2022. The survey data were analysed using descriptive statistics, Fisher’s exact test, and non-parametric tests. Results: A total of 155 participants completed the survey including Allergists/Immunologists (n = 6), General Practitioners (GPs) (n = 29), Ophthalmologists (n = 11), Optometrists (n = 66) and Pharmacists (n = 43). The survey revealed strengths and weakness in health practitioner approaches to OA. In terms of diagnosis, a significant 83.2% of participants were aware that itchy eyes are the hallmark symptom of OA; however, only 67.7% were aware that histamine is what causes the itching. Further to this, 57.4% of participants did not ask about QoL in clinical practice. In terms of management, only 30.3% were aware that some topical allergy eye drops act on eosinophils, and 74.9% were aware of the indications of mast cell stabiliser use. Finally, in terms of collaborative care, 68.4% did not believe there was a clear collaborative care model in Australia. Conclusions: This study revealed patterns in health practitioner approaches to OA. As expected, Ophthalmologists and Optometrists exhibited higher awareness and implementation of evidence-based approaches, compared to GPs and Pharmacists. However, these distinct patterns are likely influenced by differences in training and clinical responsibilities. Nonetheless, all practitioner groups showed gaps in knowledge and evidence-based practices surrounding OA. Thus, educational initiatives are required to ensure best patient-centered care is achieved, with reduced burden on the healthcare system. Full article

Background/Objectives: Scheie syndrome is the attenuated phenotype of mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder resulting from partial deficiency of α-L-iduronidase. The attenuated clinical spectrum and absence of cognitive impairment often delay recognition. Early manifestations may mimic common pediatric conditions, leading to repeated evaluations without a definitive diagnosis. Methods: We describe a 12-year-old girl who presented with slowly progressive bilateral hand stiffness, weak grip strength, and intermittent sensory symptoms over one year. Her initial investigations—including laboratory studies, electrophysiology, imaging, and multispecialty evaluations—were unremarkable. Results: The gradual progression of symptoms involving joints, motor function, and vision prompted metabolic testing. Whole exome sequencing revealed a homozygous IDUA variant, and enzymatic testing confirmed markedly reduced α-L-iduronidase activity, establishing the diagnosis of Scheie syndrome. Early initiation of enzyme replacement therapy was pursued. Conclusions: This case emphasizes that children with unexplained musculoskeletal and sensory symptoms should be evaluated for attenuated MPS I, especially when routine studies are inconclusive. Heightened clinical suspicion can reduce diagnostic delay and improve long-term outcomes. Full article

The present manuscript proposes an integrative clinical-theoretical framework that explores neurodivergence through the lens of attachment theory, aiming to enrich our understanding of atypical developmental trajectories. Drawing from both classical Bowlby–Ainsworth models and contemporary contributions from developmental psychopathology and affective neuroscience, I examine how early relational experiences shape the regulation of affect, intersubjectivity, and sensory processing in neurodivergent populations. Particular focus is given to autism spectrum conditions, attention-deficit/hyperactivity disorder (ADHD), and sensory integration challenges, highlighting the interdependence between attachment patterns and core neurodevelopmental features. By reframing neurodivergence not merely as a deficit or disorder but as an expression of individual variation in neuro-affective development, the manuscript offers implications for diagnostic refinement, therapeutic alliance building, and psychoeducational planning. This interdisciplinary approach aims to foster a more inclusive and relationally attuned clinical paradigm that addresses both the strengths and vulnerabilities of neurodivergent children and adolescents. Full article

Autism and motor abilities have been found to be closely related. Culture affects motor development as well as various diagnostic criteria for an autism diagnosis, yet cultural factors are rarely considered in research and in clinical diagnostics. This study explored the relationship between cultural factors, characteristics of autism, and balance abilities in autistic (n = 16) and non-autistic (n = 28) children by utilizing a demographic survey, the Social Responsiveness Scale, 2nd edition (SRS-2), and the Movement Assessment Battery for Children-2 (MABC-2) Balance subtest. A multiple linear regression model was used to analyze whether the relationship between autism characteristics and balance abilities still stands when cultural factors are considered, and to determine which cultural factors moderate the relationship. Moderation analyses with Holm–Bonferroni correction tested whether cultural factors altered the strength of the SRS-2 and MABC-2 balance association. The results of this study were consistent with previous research in that there is still a strong relationship between autism and balance abilities even when cultural factors are considered. The results further indicated that, in addition to autistic characteristics, age, gender/sex, and ethnic origin were statistically significant contributors to the multiple linear regression model. No significant moderation effects were detected, indicating consistency of the autism–balance relationship across cultural groups examined. In conclusion, cultural factors must be considered in autism research, as well as in the development and implementation of diagnostic and treatment protocols for autistic children. Full article

Bloodstream infections (BSIs) pose a significant global health challenge, particularly due to the increasing prevalence of antimicrobial resistance (AMR). Timely and accurate identification of pathogens and resistance determinants is critical for guiding appropriate therapy and improving patient outcomes. Traditional culture-based diagnostics are limited by prolonged turnaround times and reduced sensitivity, especially in culture-negative or polymicrobial infections. This review systematically examined current and emerging sequencing technologies for AMR detection in BSIs, including whole-genome sequencing (WGS), targeted next-generation sequencing (tNGS), metagenomic next-generation sequencing (mNGS), and long-read sequencing platforms (Oxford Nanopore, PacBio). We compared their clinical performance using key metrics such as diagnostic sensitivity, turnaround time, and cost, highlighting contexts in which each technology is most effective. For example, tNGS can achieve the rapid detection of known resistance genes within 8–24 h, while WGS provides comprehensive genome-wide resistance profiling over 24–48 h. mNGS offers broader detection, including rare or unexpected pathogens, although at higher cost and longer processing times. Our analysis identifies specific strengths and limitations of each approach, supporting the use of context-specific strategies, such as combining rapid targeted sequencing for common pathogens with broader metagenomic approaches for complex cases, to improve diagnostic yield and guide antimicrobial therapy. Quantitative comparisons indicate that sequencing technologies can complement conventional methods, particularly in cases where culture-based approaches fail. In conclusion, sequencing-based diagnostics offer measurable improvements in sensitivity and speed over traditional methods for AMR detection in BSIs. Future work should focus on optimizing workflows, integrating sequencing data into clinical decision-making, and validating approaches in prospective studies. Full article

The rise in thermal runaway events within electric vehicle (EV) battery systems requires anticipatory models to predict critical safety failures during operation. This investigation develops a multi-physics digital twin framework that links electrochemical, thermal, and structural domains to replicate the internal dynamics of lithium-ion packs in both normal and faulted modes. Coupled simulations distributed among MATLAB 2024a, Python 3.12-powered three-dimensional visualizers, and COMSOL 6.3-style multi-domain solvers supply refined spatial resolution of temperature, stress, and ion concentration profiles. While the digital twin architecture is designed to accommodate different battery chemistries and pack configurations, the numerical results reported in this study correspond specifically to a lithium NMC-based 4S3P cylindrical cell module. Quantitative benchmarks show that the digital twin identifies incipient thermal deviation with 97.4% classification accuracy (area under the curve, AUC = 0.98), anticipates failure onset within a temporal margin of ±6 s, and depicts spatial heat propagation through three-dimensional isothermal surface sweeps surpassing 120 °C. Mechanical models predict casing strain concentrations of 142 MPa, approaching polymer yield strength under stress load perturbations. A unified operator dashboard delivers diagnostic and prognostic feedback with feedback intervals under 1 s, state-of-health (SoH) variance quantified by a root-mean-square error of 0.027, and mission-critical alerts transmitting with a mean latency of 276.4 ms. Together, these results position digital twins as both diagnostic archives and predictive safety envelopes in the evolution of next-generation EV architectures. Full article

Packaging materials made from polypropylene (PP) can be used to protect cultural heritage objects from damage ensuring their long-life preservation. This research work concerns the assessment of recycled polypropylene hollow chamber sheets as potential packaging materials for archival collections and cultural heritage objects. It was carried out through a multidisciplinary diagnostic methodology combining mechanical methods, non-destructive imaging techniques in visible light (VIS), and ultraviolet-induced visible luminescence (UVL), as well as handheld digital microscopy, colorimetry, glossimetry, and SEM microanalysis. The results showed that the condition and mechanical performance of the specimens are affected by the ageing process. Full article

The interplay between the oral and gut microbiota and systemic health has garnered significant attention in recent years, particularly concerning hematological malignancies. Multiple myeloma and other hematological cancers are characterized by immune dysfunction, creating a bidirectional relationship with microbial communities. Dysbiosis, defined as an imbalance in microbial composition, may influence disease progression, treatment response, and overall prognosis. This narrative review is based on a non-systematic search of PubMed and Scopus (2010–2024) using terms related to oral microbiota, gut microbiota, dysbiosis, hematological malignancies, multiple myeloma, immune modulation, and treatment-related complications. Studies were selected for relevance to pathogenesis, immune regulation, clinical implications, and therapeutic interactions. As this is a narrative review, no quantitative synthesis or formal grading of evidence strength was performed; findings are therefore interpreted qualitatively based on the available literature. The role of microbial-derived metabolites, their effects on immune modulation, and their potential as biomarkers for disease and treatment outcomes have been explored. Specific attention is given to the implications of dysbiosis in chemotherapy-induced complications, such as mucositis and infections, and emerging therapeutic strategies, including probiotics, prebiotics, and fecal microbiota transplantation. Additionally, the influence of anticancer therapies on microbial ecosystems has been highlighted and the bidirectional impact of host–microbe interactions in shaping disease trajectory has been discussed. Understanding these complex interactions could lead to novel diagnostic and therapeutic approaches, ultimately improving patient outcomes. This review aims to provide clinicians and researchers with a comprehensive overview of current knowledge and future perspectives on the role of oral and gut microbiota in the context of hematological malignancies. Full article