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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
No full textAbstract: Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), whereas primary deficiencies in the mitochondrial respiratory chain (MRC) are rare and atypical for this aetiology. This study aims to report COX18 as a novel CMT-causing gene. This gene encodes an assembly factor of mitochondrial Complex IV that translocates the C-terminal tail of MTCO2 across the mitochondrial inner membrane. Exome sequencing was performed in four affected individuals from three families. The patients and available family members underwent thorough neurological and electrophysiological assessment. The impact of one of the identified variants on splicing, protein levels and mitochondrial bioenergetics was investigated in patient-derived lymphoblasts. The functionality of the mutant protein was assessed using a proteinase K protection assay and immunoblotting. Neuronal relevance of COX18 was assessed in a Drosophila melanogaster knockdown model. Exome sequencing coupled with homozygosity mapping revealed a homozygous splice variant c.435-6A>G in COX18 in two siblings with early-onset progressive axonal sensorimotor peripheral neuropathy. By querying external databases, we identified two additional families with rare deleterious biallelic variants in COX18. All eight affected individuals presented with axonal CMT, and some patients also exhibited CNS symptoms, such as dystonia and spasticity. Functional characterization of the c.435-6A>G variant demonstrated that it leads to the expression of an alternative transcript that lacks exon 2, resulting in a stable but defective COX18 isoform. The mutant protein impairs Complex IV assembly and activity, leading to a reduction in mitochondrial membrane potential. Downregulation of the COX18 homologue in D. melanogaster resulted in signs of neurodegeneration, including locomotor deficit and progressive axonal degeneration of sensory neurons. Our study presents genetic and functional evidence that supports COX18 as a newly identified gene candidate for autosomal recessive axonal CMT with or without CNS involvement. These findings emphasize the significance of peripheral neuropathy within the spectrum of primary mitochondrial disorders, in addition to the role of mitochondrial Complex IV in the development of CMT. Our research has important implications for the diagnostic work-up of CMT patients
In the absence of bombs : art, war and silence
No full textAbstract: What happens when violence unfolds before our eyes, yet responses hesitate and waver? When institutions - political, academic, cultural - retreat into silence, and even committed artists falter in the face of war? In the Absence of Bombs investigates this silence. In a time when horror is livestreamed and apathy is institutionalized, this book asks how such paralysis is possible, and how art can contribute to recognition of the unfolding crimes against humanity? How do poets, visual artists, theatre and filmmakers unsettle the spectacle of shock? How can grief become a collective and political force, rather than a privatized void? Through testimonies from war zones - from Gaza to Kharkiv, Beirut to Brussels - this book composes a polyphonic response to a world that demands clarity but offers none. It does not moralize. It insists. On mourning. On commitment
De historische amnesie van Bart De Wever
No full textAbstract: Het is bekend dat premier Bart De Wever zijn politiek-ideologische keuzes graag legitimeert met zijn historische expertise. Dat doet hij ook in zijn jongste essay Over welvaart, maar de historicus legt het daarin duidelijk af tegen de politicus
ESR essentials : bone marrow MRI in oncology\u2014practice recommendations by the European Society of Musculoskeletal Radiology
No full textAbstract: Involvement of the bone marrow by metastases from solid tumors or multiple myeloma (MM) is a critical challenge in oncologic imaging. Lesion detection and staging, as well as accurate assessment of treatment response, disease recurrence, and complications, are key to optimal patient management. This article provides recommendations for performing and interpreting bone marrow MRI in cancer patients. MRI should be the primary imaging modality for patients suspected of having skeletal bone metastases or MM, and should replace radiography, bone scintigraphy, and CT for these indications. Protocols must be tailored to the clinical context and to each specific cancer. Whole-body MRI (WB-MRI) is preferred for a comprehensive assessment, while axial skeleton MRI (AS-MRI) is a fast and reliable alternative for targeted or follow-up evaluations. We recommend standardized protocols that incorporate anatomical sequences (preferably fast spin echo T2 Dixon) and diffusion-weighted imaging (DWI). Quantitative biomarkers, e.g., apparent diffusion coefficient (ADC) and fat fraction (FF), should be implemented to improve diagnostic accuracy and evaluate treatment response. Radiologists must be familiar with the typical patterns of bone marrow replacement by cancer cells, response assessment principles, and common imaging pitfalls. Every medical imaging facility should offer optimal bone marrow MRI and implement these recommendations using available MRI systems and existing disease-oriented guidelines. This ESR Essentials illustrates when, how, and why to perform bone marrow MRI to improve diagnostic precision and oncologic care across a broad range of indications
Validation and performance of a geriatric early warning score (GEWS) versus the national early warning score (NEWS) in predicting clinical deterioration in frail older patients
No full textAbstract: Purpose A Geriatric Early Warning Score (GEWS) for detecting clinical deterioration in frail older individuals was developed to account for age-related altered physiological responses and was based on the framework of the National Early Warning Score (NEWS), expert consensus and existing literature. This study aimed to validate GEWS and compare its predictive accuracy with the NEWS, as well as to evaluate the clinical burden of predefined thresholds. Methods In this prospective multicenter observational study, patients receiving acute geriatric care were included. Clinical deterioration was defined as: (1) unexpected death, (2) Intensive Care Unit transfer, (3) transition to palliative care, or (4) urgent medical/surgical intervention. Results Among 511 patients, 348 events occurred in 297 individuals. We found higher AUROC 0.796 [95% CI 0.770\u20130.822] and PR-AUC values 0.412 [95% CI 0.350\u20130.472] for GEWS compared to NEWS 0.732 [95% CI 0.697\u20130.765] and 0.305 [95% CI 0.249\u20130.365] respectively (p\u2009<\u20090.0001). The GEWS\u2009 65\u20095 compared to NEWS\u2009 65\u20095 was superior in accuracy (0.940 vs. 0.927), PPV (0.497 vs. 0.365), and specificity (0.977 vs. 0.967), (all p\u2009<\u20090.0001). Moreover, a lower-number-needed-to-evaluate (NNE) (2.013 vs. 2.738, p\u2009<\u20090.0001) and a higher alerted-outcome-event-rate (AOER 4.424 vs. 3.706, p\u2009<\u20090.0005) resulted in lower clinical burden. For life-threatening events (Type 1\u20133), GEWS\u2009 65\u20098 compared to NEWS\u2009 65\u20097 showed higher specificity (0.999 vs. 0.995, p\u2009<\u20090.0001) and reduced rate-of-alerts (ROA 0.518 vs.1.347, p\u2009<\u20090.0001). Conclusion GEWS more accurately detects clinical deterioration within 12 h in frail older adults than NEWS, with less clinical burden. GEWS\u2009 65\u20095 is recommended for clinical alerting, whereas\u2009 65\u20098 for more urgent medical assistance
Photodynamic therapy for the treatment of cervical intraepithelial neoplasia (CIN) : a systematic review
No full textAbstract: Cervical intraepithelial neoplasia (CIN) is a precancerous condition caused primarily by persistent human papillomavirus (HPV) infection. Photodynamic therapy (PDT), a minimally invasive approach utilizing a photosensitizer activated by specific wavelengths of light to selectively destroy dysplastic cells, has emerged as a potential alternative. This review aims to assess the efficacy, safety, and applicability of PDT for the treatment of CIN. Data on treatment protocols, lesion regression rates, recurrence, safety profiles, and patient outcomes were extracted and analyzed. A total of 130 studies published between 2014 and 2024 were analyzed using Scopus and bibliometric mapping tools like VOSviewer. Results highlight that PDT achieves high lesion regression rates, especially in CIN 1 and CIN 2, with minimal recurrence and adverse effects. PDT also demonstrates superiority over conventional treatments like LEEP (Loop Electrosurgical Excision Procedure) in preserving cervical structure and fertility, a key consideration for reproductive-age women. Moreover, photosensitizer choice, light source, and treatment protocols significantly influence therapeutic outcomes. While conization is widely accepted, it carries obstetrical risks such as premature delivery. In contrast, PDT offers a fertility-sparing alternative with comparable, and in some cases superior, long-term outcomes. The review also emphasizes the role of PDT in low-resource settings due to its relative accessibility and adaptability. However, standardization of treatment protocols and more rigorous, large-scale trials are necessary to validate PDT\u2019s utility. Overall, PDT stands out as an effective, safe, and fertility-preserving therapeutic option for managing CIN and early-stage cervical neoplasia, with potential for global implementation in cervical cancer prevention strategies
Architecting the metaverse : a paradigm shift in architecture co-design
No full textAbstract: Although already used since the last decade of the 20th century, the concept of metaverse has gained relevance in the last decade due to the advancements of virtual reality, the gaming industry and the uptake of big IT companies. Metaverse for architecture design has been increasingly mentioned and used in practice, education, and research. Metaverse and the Extended Reality (XR) technologies that compose it and the multiuser possibilities enable immersive 3D experiences and interactions that engage multiple senses, creating a strong sense of presence in virtual environments. This heightened presence facilitates a deep understanding of spatial surroundings, allowing designers and laypeople to explore the built environment thoroughly. This paper explores the metaverse\u2019s potential as a collaborative design tool in architecture, emphasising its real-time interactive capabilities and support for participatory design. We examine leading metaverse platforms, focusing on key features crucial for architectural design, namely, 3D modelling options, customisation tools, interaction features, and co-presence. Furthermore, we present three case studies using metaverse, illustrating its utility across different architectural research scenarios. These cases involve co-design, user studies evaluating the built environment quality, and simulations of construction processes
Synthesis of metallic uranium microspheres via electrolytic reduction in molten LiCl
No full textAbstract: This study presents the synthesis of metallic uranium microspheres via a high temperature electrolytic reduction process. A two-step procedure is applied where first UO2 microspheres are prepared via an internal gelation method and are then applied as feed material for electrolytic reduction in molten LiCl-Li2O at 923 K. The use of microspheres combines several advantages over traditional powder metallurgical processes requiring powder or pellet feeds. A relatively high active surface area provides sufficient reaction rates while the lack of powder streams enables safer handling and reduces the risk of material loss during electrolysis. X-ray diffraction (XRD) and thermogravimetric analysis (TGA) demonstrated that UO2 microspheres achieve higher conversion to the metallic form relative to conventional pellets, confirming their superior reduction efficiency. Moreover, the reduced microspheres and pellets were characterized by scanning electron microscopy (SEM) and energy dispersive X-ray spectroscopy (EDX) to investigate the structural and morphological changes during the reduction process. The reduced uranium microspheres maintained a porous, sponge-like structure, offering better structural integrity and stability, which is advantageous for further processing. Metallic uranium with minor inclusion of impurities was achieved as a final product as confirmed by elemental analysis through inductively coupled plasma mass spectrometry (ICP-MS) indicating impurity levels below 50 ppm of the main impurity elements. Increased concentrations of Mo and Ni were detected originating from electrode contamination after prolonged electrolysis. Li and Al from the residual salt were also detected in the final product. Although further optimization is necessary to fully comply with ASTM standards for uranium metal, this study outlines a promising approach for preparing high-purity metallic uranium from uranyl nitrate solutions with limited process steps and no additional purification, proving potentially useful for applications such as medical isotope production and recycling of target production scraps
Soil biodiversity and ecosystem functions in grasslands : is more always better?
No full textAbstract: Given the biodiversity crisis, research on soil biodiversity and ecosystem functioning (BEF) has grown rapidly. While a positive BEF relationship is often reported, whether it holds across different soils with distinct soil and plant communities remains understudied. Here, we conducted a greenhouse experiment containing five experimental grassland systems representing different (semi)natural grasslands. Each grassland system contained four biodiversity levels established by sequential filtering of the field soil community by size, creating a gradient in their presence, richness and thus community completeness. We found that shoot biomass remained unaffected by treatments. However, consistent with expectations of a positive BEF relationship, nitrification potential and microbial nitrogen content generally increased with biodiversity increase, whereas the relative abundance of predatory/parasitic bacteria decreased. On the contrary, high soil biodiversity led to a decrease in plant nitrogen content and soil urea degradation potential, suggesting that soil biodiversity may influence competition for nitrogen between plants and microbes. Moreover, while microbial biomass carbon was promoted by soil biodiversity in relatively fertile grassland soils and root biomass was unaffected, they were both reduced in poorer soils. These findings highlight that soil biodiversity may promote certain grassland functions but suppress others and that the direction of these trade-offs may depend on the soil characteristics or the biotic community it harbours. The conservation and management of soil biodiversity thus need to be evaluated in the context of the functions that are to be maximised and the grassland soil context