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Povzetek: In recent decades, which have brought about dramatic changes in medicine, the relationship of trust between patients and doctors has come under severe pressure. In parallel with the increasing needs and complexity of patients who demand more individual time from their physicians (including the explanatory duty required by law), the administrative burden of the latter is increasing. The performance metrics of individual physicians has either already been introduced or is planned to be introduced, forcing physicians into the “production line” of healthcare services. Although physicians represent a small percentage of all employees in the healthcare enterprise, generally less than 10 %, they are the main target of performance metrics in healthcare. The administrative burden and metrics approach are enhanced by the corporatization of healthcare systems, both in private as well as public healthcare organizations. Patients and physicians are no longer the main figures in medical decision making, as many other individuals and entities have since joined, described as “strangers at the bedside” in a book by Professor David Rothman. They include bioethicists, lawyers, court rulings, economists, psychologists, civil society, and activists. The introduction of artificial intelligence into healthcare and its role in medical decision making will be assessed in the near and distant future. Patients do not want to be part of a healthcare production line. They want a human touch from their physician, whom they trust to fight for and protect their best interests, their health, and their lives. Patients need this trustful relationship at least as much as medications and healthcare services. Physicians want and need the same. A trustful relationship between patient and physician has been the core value of medicine for thousands of years, and should be protected and consolidated for the future. Our duty as physicians is the fight to sustain it in the challenging times ahead.
Ključne besede: moral injury, trust, physicians, physician - patient relationship
Objavljeno v DiRROS: 21.11.2025; Ogledov: 158; Prenosov: 78
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Povzetek: PPrimary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients spanning 173 published (47 updated) and 78 new cases. Kidney disease was first diagnosed at median age 1.0, 1.2 and 9.8 years in individuals with disease-causing variants in COQ2, COQ6 and COQ8B, respectively. Isolated kidney involvement at diagnosis occurred in 34% of COQ2, 10.8% of COQ6 and 70.7% of COQ8B variant individuals. Classic infantile multiorgan involvement comprised 22% of the COQ2 variant cohort while 47% of them developed neurological symptoms at median age 2.7 years. The association of steroid-resistant nephrotic syndrome and sensorineural hearing loss was confirmed as the distinctive phenotype of COQ6 variants, with hearing impairment manifesting at average age three years. None of the patients with COQ8B variants, but 50% of patients with COQ2 and COQ6 variants progressed to kidney failure by age five. At adult age, kidney survival was equally poor (20-25%) across all disorders. A number of sequence variants, including putative local founder mutations, had divergent clinical presentations, in terms of onset age, kidney and non-kidney manifestations and kidney survival. Milder kidney phenotype was present in those with biallelic truncating variants within the COQ8B variant cohort. Thus, significant intra- and inter-familial phenotype variability was observed, suggesting both genetic and non-genetic modifiers of disease severity. Copyright (C) 2022, International Society of Nephrology.
Ključne besede: coenzyme Q10, mitochondria, steroid-resistant nephrotic syndrome
Objavljeno v DiRROS: 21.11.2025; Ogledov: 166; Prenosov: 86
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Povzetek: To assess and describe the aetiology and management of febrile illness in children with primary or acquired immunodeficiency at high risk of serious bacterial infection, as seen in emergency departments in tertiary hospitals. Prospective data on demographics, presenting features, investigations, microbiology, management, and outcome of patients within the 'Biomarker Validation in HR patients' database in PERFORM, were analysed. Immunocompromised children (< 18 years old) presented to fifteen European hospitals in nine countries, and one Gambian hospital, with fever or suspected infection and clinical indication for blood investigations. Febrile episodes were assigned clinical phenotypes using the validated PERFORM algorithm. Logistic regression was used to assess the effect size of predictive features of proven/presumed bacterial or viral infection. A total of 599 episodes in 482 children were analysed. Seventy-eight episodes (13.0%) were definite bacterial, 67 episodes probable bacterial (11.2%), and 29 bacterial syndrome (4.8%). Fifty-five were definite viral (9.2%), 49 probable viral (8.2%), and 23 viral syndrome (3.8%). One hundred ninety were unknown bacterial or viral infections (31.7%), and 108 had inflammatory or other non-infectious causes of fever (18.1%). Predictive features of proven/presumed bacterial infection were ill appearance (OR 3.1 (95% CI 2.1-4.6)) and HIV (OR 10.4 (95% CI 2.0-54.4)). Ill appearance reduced the odds of having a proven/presumed viral infection (OR 0.5 ( 95% CI 0.3-0.9)). A total of 82.1% had new empirical antibiotics started on admission (N = 492); 94.3% proven/presumed bacterial (N = 164), 66.1% proven/presumed viral (N = 84), and 93.2% unknown bacterial or viral infections (N = 177). Mortality was 1.9% (N = 11) and 87.1% made full recovery (N = 522). Conclusion: The aetiology of febrile illness in immunocompromised children is diverse. In one-third of cases, no cause for the fever will be identified. Justification for standard intravenous antibiotic treatment for every febrile immunocompromised child is debatable, yet effective. Better clinical decision-making tools and new biomarkers are needed for this population.
Ključne besede: immunocompromised, paediatric, children, fever, infection, antibiotics
Objavljeno v DiRROS: 21.11.2025; Ogledov: 174; Prenosov: 75
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Povzetek: Background. Yarrowia lipolytica is a promising host for sustainable microbial oil production from waste-derived carboxylic acids such as acetate and propionate. Nonetheless, the molecular mechanisms underlying the metabolism and assimilation of these substrates, particularly under nitrogen limitation, are still not fully understood. Results. We conducted a multi-condition transcriptomic analysis of Y. lipolytica strain EXF-17398 under nitrogen-limiting conditions to investigate its transcriptional adaptation to acetate and propionate utilisation. Our results revealed distinct transcriptional responses associated with metabolic adaptation, including the coordinated regulation of Jen and Gpr carboxylate transporter families, suggesting a dual system for carboxylate uptake. JEN5 and GPR1 appear central to propionate and acetate utilisation, respectively. Our data suggest that propionate toxicity is mitigated through its conversion via the methylcitrate cycle and potentially the malonate semialdehyde pathway, preventing accumulation of cytotoxic propionyl-CoA in the cytosol. The upregulation of carnitine acyltransferases suggests active mitochondrial transport of acyl-CoAs, linking detoxification with energy metabolism. Under tested conditions, the de novo lipid synthesis was consistent with carbon overflow from acetyl-CoA and propionyl-CoA, supported by intracellular nitrogen recycling and redox balancing, independent of classical nitrogen regulatory pathways. Conclusions. These findings illustrate the capacity of Y. lipolytica to coordinate carbon and nitrogen metabolism during carboxylate utilisation, such as acetate and propionate, offering insights to guide the optimisation of microbial oil production from renewable feedstocks.
Ključne besede: propionate, transport, metabolism
Objavljeno v DiRROS: 21.11.2025; Ogledov: 169; Prenosov: 91
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Povzetek: Traditional Graphs, such as weighted graphs, or fuzzy graphs have static edge weights or membership values.These graphs have been widely used to model various complex systems, but they typically do not incorporate dynamicinteractions found in evolving systems like brain networks. Temporal graphs are data-based algorithmic time-dependentstructures. There is no such structure to represent the dynamic interactions of networks. Quantum graphs are structuredgraphs based on the dynamic behaviors of vertices and links. This study introduces Signed Quantum Graphs (SQGs) withtime-dependent signs that represent dynamical systems. The properties of SQGs have been investigated. Additionally,concepts and properties of triadic closure, balance, domination, and strength of a SQG have been studied. The area ofapplications in brain networks has been mentioned. We propose a dynamic signed graph framework, where edge signsevolve periodically using functions. Structural properties and convergence results are provided.
Ključne besede: signed graphs, quantum graphs, dynamical networks, temporal graphs
Objavljeno v DiRROS: 21.11.2025; Ogledov: 134; Prenosov: 56
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