Search Results (597)

Background: Human metapneumovirus (hMPV) is a respiratory pathogen that causes illness ranging from mild upper respiratory tract infections to severe pneumonia, particularly in individuals with comorbidities. Fatal cases of hMPV-induced hemorrhagic pneumonia are rare and likely under-reported. Diagnosis is often delayed due to overlapping symptoms with other respiratory viruses and the rapid progression of the disease. Case presentation: We report the case of a 55-year-old man with a complex medical history, including liver cirrhosis and diabetes mellitus, who developed acute viral pneumonia. Initial symptoms appeared three days before a sudden clinical deterioration marked by shortness of breath, hemoptysis, and respiratory failure. A nasopharyngeal swab taken on the third day of illness tested positive for hMPV by qRT-PCR. The patient died the following day. Postmortem molecular testing confirmed hMPV in lung tissue and alveolar contents. Autopsy revealed bilateral hemorrhagic pneumonia with regional lymphadenopathy. Histopathological examination showed alveolar hemorrhage, multinucleated cells, neutrophilic infiltration, activated autophagy in macrophages, and numerous cytoplasmic eosinophilic viral inclusions. Conclusions: This is the first documented case of fatal hMPV pneumonia in Armenia. It highlights the potential severity of hMPV in adults with chronic health conditions and emphasizes the need for timely molecular diagnostics. Postmortem identification of characteristic viral inclusions may serve as a cost-effective histopathological marker of hMPV-associated lung pathology. Full article

The aim of this paper is to present our experience with the diagnosis and management of nine patients diagnosed with Leber’s hereditay optic neuropathy. Materials and methods: We conducted a prospective, observational study that included nine patients treated with idebenone, followed for a period of 18 months. Results: Our findings suggest that the impact of treatment varies significantly depending on the disease phase. In the acute phase, visual acuity deteriorated from 0.67 logMAR at onset to 0.97 logMAR at 3 months, followed by a slight improvement to 0.88 logMAR at 9 months. In the chronic phase, average values decreased progressively from 1.44 logMAR at onset to 1.26 logMAR at 12 and 18 months. We also observed a consistent treatment benefit over time in eyes harbouring the m.11778 G > A mutation. Although the most powerful predictor of visual outcome remains the mtDNA genotype, young age at onset is correlated with a better prognosis. In the acute phase, more cases of a clinically relevant benefit were observed than expected (33.33% versus 22.22% expected), and fewer clinically relevant worsening cases were observed (0% versus 11.11% expected). Regarding OCT measurement, our study highlighted a significant difference in peripapillary retinal nerve fiber layer thickness between the initial evaluation and the 6-month follow-up (100.83 µm ± 30.2 at baseline versus 96.7 µm ± 24.8 at 6 months). Conclusions: Our paper demonstrates the benefit of idebenone treatment in improving visual acuity in patients with Leber hereditary optic neuropathy. We highlighted the importance of long-term treatment, emphasizing that extended administration is key to achieving favorable outcomes. Full article

Addressing the stability control challenges of roadways with composite roofs in the No. 34 coal seam of Donghai Mine under high-strength mining conditions, this study employed integrated methodologies including laboratory experiments, numerical modeling, and field trials. It investigated the mechanical response characteristics of the composite roof and developed a synergistic control system, validated through industrial application. Key findings indicate significant differences in mechanical behavior and failure mechanisms between individual rock specimens and composite rock masses. A theoretical “elastic-plastic-fractured” zoning model for the composite roof was established based on the theory of surrounding rock deterioration, elucidating the mechanical mechanism where the cohesive strength of hard rock governs the load-bearing capacity of the outer shell, while the cohesive strength of soft rock controls plastic flow. The influence of in situ stress and support resistance on the evolution of the surrounding rock zone radii was quantitatively determined. The FLAC^3D strain-softening model accurately simulated the post-peak behavior of the surrounding rock. Analysis demonstrated specific inherent patterns in the magnitude, ratio, and orientation of principal stresses within the composite roof under mining influence. A high differential stress zone (σ₁/σ₃ = 6–7) formed within 20 m of the working face, accompanied by a deflection of the maximum principal stress direction by 53, triggering the expansion of a butterfly-shaped plastic zone. Based on these insights, we proposed and implemented a synergistic control system integrating high-pressure grouting, pre-stressed cables, and energy-absorbing bolts. Field tests demonstrated significant improvements: roof-to-floor convergence reduced by 48.4%, rib-to-rib convergence decreased by 39.3%, microseismic events declined by 61%, and the self-stabilization period of the surrounding rock shortened by 11%. Consequently, this research establishes a holistic “theoretical modeling-evolution diagnosis-synergistic control” solution chain, providing a validated theoretical foundation and engineering paradigm for composite roof support design. Full article

Background/Objectives: Senior-Loken syndrome (SLS) is a rare autosomal recessive renal–retinal disease caused by mutations in 10 genes. This study aimed to review the ophthalmic findings, renal function, and genotypes of Korean SLS cases. Methods: We retrospectively reviewed 17 genetically confirmed SLS patients in Korea, including 9 newly identified cases and 8 previously reported. Comprehensive ophthalmologic evaluations and renal assessments were conducted. Genetic testing was performed using whole-genome sequencing (WGS), whole-exome sequencing (WES), or Sanger sequencing. Results: Among the 17 patients, patients with NPHP1 mutations were most common (35.3%), followed by those with NPHP4 (29.4%), IQCB1 (NPHP5, 29.4%), and SDCCAG8 (NPHP10, 5.9%) mutations. Patients with NPHP1 mutations showed retinitis pigmentosa (RP) sine pigmento and preserved central vision independent of renal deterioration. Patients with NPHP4 mutations showed early renal dysfunction. Two patients aged under 20 maintained relatively good visual function, but older individuals progressed to severe retinopathy. Patients with IQCB1 mutations were generally prone to early and severe retinal degeneration, typically manifesting as Leber congenital amaurosis (LCA) (three patients), while two patients exhibited milder RP sine pigmento with preserved central vision. Notably, two out of five (40.0%) maintained normal renal function at the time of diagnosis, and both had large deletions in IQCB1. The patient with SDCCAG8 mutation exhibited both end-stage renal disease and congenital blindness due to LCA. Wide-field fundus autofluorescence (AF) revealed perifoveal and peripapillary hypoAF with a perifoveal hyperAF in younger patients across genotypes. Patients under 20 years old showed relatively preserved central vision, regardless of the underlying genetic mutation. Conclusions: The clinical manifestation of renal and ocular impairment demonstrated heterogeneity among Korean SLS patients according to causative genes, and the severity of renal dysfunction and visual decline was not correlated. Therefore, simultaneous comprehensive evaluations of both renal and ocular function should be performed at the initial diagnosis to guide timely intervention and optimize long-term outcomes. Full article

Background: Pneumocystis jirovecii pneumonia (PJP) remains a serious threat to non-HIV immunocompromised patients, who often experience rapid disease progression, delayed diagnosis, and higher mortality. Standard treatment with high-dose trimethoprim-sulfamethoxazole (TMP-SMX) is based primarily on data from HIV-positive populations, despite differences in immune response and drug tolerability. Objective: This narrative review critically synthesizes the available evidence on lower-dose TMP-SMX strategies for PJP in non-HIV patients and explores the potential role of individualized dosing approaches to improve outcomes. Findings: Emerging retrospective data suggest that lower-dose regimens (<15 mg/kg/day) may provide similar survival outcomes with fewer adverse effects. The intense inflammatory response observed after treatment initiation in non-HIV patients, potentially exacerbated by high-dose therapy, may contribute to clinical deterioration. This raises the possibility that TMP-SMX dosing itself could influence immune-mediated lung injury. While adjunctive corticosteroids are frequently used to temper inflammation, their benefit remains uncertain. Conclusions: Existing data suggest that lower-dose TMP-SMX may be effective and better tolerated in some non-HIV patients with PJP. A personalized approach to dosing, informed by clinical and host-specific factors, represents a promising strategy to optimize outcomes and minimize harm. Future research should prioritize precision medicine frameworks and prospective evaluation of individualized dosing protocols. Full article

This review aims to summarize the global prevalence of healthcare-associated infections in patients with acute heart failure who have been admitted to coronary care units, highlighting the underrepresented burden of infection in this high-risk population. Coronary care units (CCUs) play a pivotal role in the care of patients experiencing acute or decompensated heart failure, offering a highly monitored environment with immediate access to advanced cardiac interventions. The management of heart failure in CCUs involves a multidisciplinary approach that includes hemodynamic monitoring, pharmacologic therapy, respiratory support, and, in selected cases, mechanical circulatory assistance. The early identification of deterioration, rapid therapeutic escalation, and close monitoring of cardiac function are hallmarks of CCU care. However, the complexity and severity of illness in this population are compounded by a high risk of infections, including hospital-acquired pneumonia, bloodstream infections, and device-related infections. These infections not only increase morbidity and prolong hospitalization but also significantly impact mortality and healthcare costs. The immunocompromised state of many heart failure patients—due to poor perfusion, malnutrition, and the use of invasive devices—further elevates their vulnerability. Effective infection prevention, early diagnosis, and targeted antimicrobial therapy are, therefore, critical components of heart failure management within CCUs. This intersection of advanced cardiac care and infection control highlights the need for integrated, multidisciplinary strategies to improve outcomes in this high-risk population. Full article

Objectives: The aim was to present the complicated diagnostic and therapeutic process of atypical, painless keratitis caused by a cosmopolitan protozoan of the genus Acanthamoeba. Methods: This Case Report describes a medical case involving a 48-year-old woman who occasionally wears soft contact lenses and was referred to our hospital for treatment due to deteriorating visual acuity in her left eye. The diagnostic process included the isolation of amoebae from corneal scrapings and the morphological and molecular identification of the etiological agent of the infection. Results: After examination, painless atypical keratitis was diagnosed, initially considered recurrent herpetic keratitis. However, antiviral treatment did not bring about any improvement. Further observation revealed a dense, central, annular infiltrate on the periphery of the cornea. Despite treatment, the corneal infiltrate did not improve and the patient required therapeutic penetrating keratoplasty. Ultimately, the patient underwent combined surgery: corneal transplantation with cataract phacoemulsification and intraocular lens implantation. The postoperative course was uneventful. Conclusions: Acanthamoeba keratitis should be included in the differential diagnosis of keratitis, even in the absence of its characteristic feature of severe ocular pain, especially in contact lens wearers and patients who have had herpetic keratitis. Infection of the cornea with the Herpes simplex type 1 virus causes nerve degeneration, which probably translates into a painless course of Acanthamoeba castellanii infection. Full article

Dissolved gas analysis remains the most widely utilized non-intrusive diagnostic method for detecting incipient faults in insulating liquid-immersed transformers. Despite their prevalence, conventional ratio-based methods often suffer from ambiguity and limited potential for automation applicrations. To address these limitations, this study proposes a unified multiclass classification model that integrates traditional gas ratio features with supervised machine learning algorithms to enhance fault diagnosis accuracy. The performance of six machine learning classifiers was systematically evaluated using training and testing data generated through four widely recognized gas ratio schemes. Grid search optimization was employed to fine-tune the hyperparameters of each model, while model evaluation was conducted using 10-fold cross-validation and six performance metrics. Across all the diagnostic approaches, ensemble models, namely random forest, XGBoost, and LightGBM, consistently outperformed non-ensemble models. Notably, random forest and LightGBM classifiers demonstrated the most robust and superior performance across all schemes, achieving accuracy, precision, recall, and F1 scores between 0.99 and 1, along with Matthew correlation coefficient values exceeding 0.98 in all cases. This robustness suggests that ensemble models are effective at capturing complex decision boundaries and relationships among gas ratio features. Furthermore, beyond numerical classification, the integration of physicochemical and dielectric properties in this study revealed degradation signatures that strongly correlate with thermal fault indicators. Particularly, the CIGRÉ-based classification using a random forest classifier demonstrated high sensitivity in detecting thermally stressed units, corroborating trends observed in chemical deterioration parameters such as interfacial tension and CO₂/CO ratios. Access to over 80 years of operational data provides a rare and invaluable perspective on the long-term performance and degradation of power equipment. This extended dataset enables a more accurate assessment of ageing trends, enhances the reliability of predictive maintenance models, and supports informed decision-making for asset management in legacy power systems. Full article

Background/Objectives: Cognitive impairment often occurs in various parkinsonian syndromes. The course of deficits in cognitive functions ranges from mild cognitive decline to severe deterioration. Affected cognitive domains are also variable. The genetic background of patients exhibiting parkinsonism with concomitant cognitive decline is still elusive. A significant part of current research in Parkinson’s disease and other parkinsonian syndromes is targeted towards the genetic aspects of these disorders. The aim of the present review was to summarize existing studies focusing on the investigation of the interplay between genetic data in parkinsonism and associated cognitive symptoms. Methods: A review of English-language articles published between 2000 and 2024 was conducted, focusing on genetic studies of Parkinson’s disease and atypical parkinsonian syndromes with cognitive decline, using the databases PUBMED, SCOPUS, and EMBASE. Results: We have selected a clinical phenotype-wise assessment of parkinsonian conditions with cognitive deficits, including typical or early-onset Parkinson’s disease, dementia with Lewy bodies, Corticobasal Syndrome, Progressive Supranuclear Palsy, and frontotemporal dementia with parkinsonism. Both typical and atypical parkinsonian syndromes with concomitant cognitive decline were explored. Conclusions: Genetic background likely contributes to the heterogeneity of cognitive impairment in parkinsonian syndromes, with specific mutations linked to distinct cognitive symptoms. The integration of genetic data and a more thorough neuropsychological assessment with clinical, imaging, and biomarkers may enhance diagnosis and enable personalized therapies. Full article

A preterm neonate born at 24 + 5 weeks gestation developed congenital Candida krusei sepsis, diagnosed via placental culture, axillary swab, and elevated beta-glucan levels. Although initial blood cultures were negative, continuous HeRo monitoring played a crucial role in the early detection of clinical deterioration, prompting timely antifungal therapy with amphotericin B followed by micafungin. This proactive approach, combining prompt diagnosis, HeRo surveillance, and tailored treatment, ensured a favorable outcome. Our case underscores the value of HeRo monitoring as an early warning tool in managing neonatal fungal infections. Full article

Background: The vestibular Romberg test, which assesses the deterioration of balance while standing on rubber foam with closed eyes, is a well-established method in the physical neurological assessment of patients with peripheral vestibulopathy. This study aims to determine whether it can differentiate peripheral vestibulopathy from its main differential diagnosis, namely sensory ataxia, as both conditions typically present with a positive classical Romberg test. Methods: Static balance was assessed in three groups: patients with peripheral vestibulopathy, patients with pure sensory neuropathy, and healthy age-matched controls. Participants stood quietly on a force platform under varying visual and proprioceptive feedback conditions. Conventional and advanced postural sway metrics were investigated to establish a quantitative analogy to both the clinical Romberg and vestibular Romberg tests. Results: Posturographic analysis revealed that, in contrast to healthy controls, patients with vestibular disorders exhibited higher vestibular Romberg quotient values. However, the classical vestibular Romberg quotient did not show diagnostic discrimination between vestibulopathy and sensory neuropathy patients. This lack of discrimination was mainly due to the increased body sway observed in all patient groups under the “eyes open” condition. Nevertheless, a refined vestibular Romberg quotient—comparing standing on foam versus standing on firm support with eyes closed—was able to reliably distinguish vestibulopathy from sensory ataxia. This distinction was evident in both conventional linear sway and spectral postural sway metrics. Conclusions: We conclude that a refined Romberg test, performed solely under conditions of visual deprivation, offers valuable classification potential in differentiating peripheral vestibulopathy not only from healthy controls but also from patients with disequilibrium due to sensory loss. Full article

Background and Clinical Significance: Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture. It is primarily caused by mutations in the ZNF469 or PRDM5 genes, which regulate extracellular matrix integrity. Early recognition and diagnosis of BCS are crucial to prevent severe visual impairment. This report presents two genetically confirmed cases of BCS in Albanian siblings, emphasizing the diagnostic value of whole-exome sequencing and individualized surgical management strategies. Case Presentation: Two siblings—a 28-year-old male and a 25-year-old female—presented with progressive visual deterioration and marked corneal thinning (<200 µm). Both had a history of spontaneous ocular rupture following minor trauma in the contralateral eye. Detailed ophthalmologic evaluation revealed keratoglobus, high myopia, and irregular astigmatism. Genetic testing identified the homozygous pathogenic variant c.974delG (p.Cys325LeufsX2) in the PRDM5 gene in both cases. The male underwent penetrating keratoplasty (PKP), achieving a best-corrected visual acuity (BCVA) of 20/30. The female initially underwent deep anterior lamellar keratoplasty (DALK), which was converted to PKP intraoperatively due to central endothelial perforation, resulting in a BCVA of 20/25. Both patients remained complication-free over a 7-year follow-up period. Conclusions: These cases highlight the importance of early genetic diagnosis and a tailored surgical approach in managing BCS. Long-term monitoring and protective strategies are essential to prevent complications. Incorporating genetic testing into clinical practice can enhance diagnostic accuracy and guide personalized treatment plans in patients with hereditary corneal dystrophies. Full article

Temporomandibular disorders (TMDs) impact quality of life and present diagnostic and treatment challenges. Biomarkers may serve as an additional tool to support diagnosis and monitor disease progression, offering supplementary information for treatment strategies in specific and selected patients. This systematic review aimed to assess the role of biomarkers in diagnosing TMD and guiding personalized treatment. It also examined key biomarkers linked to chronic temporomandibular joint (TMJ) pain and how therapies affect biomarker levels and clinical outcomes. A comprehensive search was conducted in PubMed, Scopus, and Web of Science to identify observational and interventional studies assessing the role of biomarkers in synovial fluid/tissue, saliva, and blood. The research was registered in PROSPERO, adhered to PRISMA guidelines, and employed Cochrane Risk of Bias tools. To assess the effect, only studies examining biomarker levels were considered. A total of forty-six studies met the inclusion criteria: three randomized controlled trials were rated as having some concerns, as were most of the observational studies. Elevated levels of interleukins (1ß and 6), tumour necrosis factor alpha, and prostaglandin E2 in synovial fluid were correlated with temporomandibular joint (TMJ) inflammation. Increased matrix metalloproteinases (2, 7, and 9) indicated cartilage deterioration, while oxidative stress markers such as malondialdehyde were higher in TMD patients. Treatments including hyaluronic acid, platelet-rich plasma, and low-level laser therapy effectively reduced inflammatory biomarkers and improved symptoms. Biomarkers show potential to contribute to the understanding of pathophysiological mechanisms in TMD and may support future diagnostic and therapeutic strategies for selected patients. After high-quality studies confirm these findings, this approach will enable personalized medicine by tailoring treatments to individual patient profiles, ultimately leading to improved outcomes and quality of life. Full article

The Palma Cathedral, a landmark of Mediterranean Gothic architecture, features some of the most structurally daring slender piers in European ecclesiastical design. This study examines the role of marés stone—a local marine calcarenite—in enabling such architectural feats despite its inherent fragility. A multi-technique, non-invasive diagnostic campaign was conducted, including visual inspection, portable microscopy, and infrared thermography, to evaluate the physical condition and behavior of the stone under structural and environmental stress. The results reveal widespread deterioration processes—granular disintegration, alveolization, biological colonization, and structural cracking—exacerbated by the stone’s high porosity and exposure to marine aerosols and thermal fluctuations. Thermographic analysis highlighted moisture retention zones and hidden material discontinuities, while crack monitoring confirmed long-standing, localized structural strain. These findings demonstrate that the Cathedral’s formal audacity was grounded in a refined empirical understanding of marés’ properties. The study underscores the importance of material-based diagnostics for the sustainable conservation of Gothic heritage architecture. Full article

Health and well-being, both mental and physical, depend largely on adequate sleep. Many conditions arise from a disrupted sleep cycle, significantly deteriorating the quality of life of those affected. The analysis of the sleep cycle provide valuable information about sleep stages, which are employed in sleep medicine for the diagnosis of numerous diseases. The clinical standard for sleep data recording is polysomnography (PSG), which records electroencephalogram (EEG), electrooculogram (EOG), electromyogram (EMG), and other signals during sleep activity. Recently, machine learning approaches have exhibited high accuracy in applications such as the classification and prediction of biomedical signals. This study presents a hybrid neural network architecture composed of convolutional neural network (CNN) layers, bidirectional long short-term memory (BiLSTM) layers, and attention mechanism layers in order to process large volumes of EEG data in PSG files. The objective is to design a framework for automated feature extraction. To address class imbalance, an epoch-level random undersampling (E-LRUS) method is proposed, discarding full epochs from majority classes while preserving the temporal structure, unlike traditional methods that remove individual samples. This method has been tested on EEG recordings acquired from the public Sleep EDF Expanded database, achieving an overall accuracy rate of 78.67% along with an F1-score of 72.10%. The findings show that this method proves to be effective for sleep stage classification in patients. Full article