Search Results (45)

We investigate the explosive-rupture behavior of porcelain hollow bushings using a representative 500 kV SF₆ incident as the reference case. Finite-element simulations are performed for both the static response and the rupture process. Results show that internal SF₆ pressure drives the maximum equivalent (von Mises) stress to the flange, while strain localizes near the bushing mid-span. These findings highlight the cement–grout potting between the porcelain shell and flange, the waterproofing treatment, and the mid-span bonded joint as key manufacturing control points. Dynamic simulations further indicate that comparing the explosive-equivalent energy of the SF₆ pressure impulse with the gas expansion (burst) energy enables diagnosis of the failure mode. From the viewpoint of fragment kinetic energy, the analysis indirectly verifies that rupture is initiated by intrinsic porcelain defects and subsequent crack propagation. The simulated fragment morphology and ground dispersion agree with field observations from the actual event, underscoring the critical role of microcracks in brittle fracture. Accordingly, optimizing firing processes to reduce internal cracks and voids—via raw-material control and firing-temperature optimization—is essential for reliability improvement and life extension. The results provide a practical reference for the design and long-term operation of porcelain bushings. Full article

Background/Objectives: Hereditary anomalies in the TYK2 gene are the basis of a rare primary immunodeficiency, immunodeficiency-35, typified by an augmented vulnerability to mycobacterial and viral infections. Clinical overlap with chronic granulomatous disease (CGD) and other granulomatous disorders complicates diagnosis, particularly in nations where universal BCG vaccination is instituted. We present a pediatric case from Kazakhstan to broaden the clinical and molecular spectrum of TYK2-related immunodeficiency and accentuate diagnostic challenges. Methods: The proband underwent clinical assessment, immunophenotyping, and biochemical analysis during episodes of active pathology and subsequent follow-up. Whole-exome sequencing (WES) was executed, followed by confirmatory Sanger sequencing and segregation analysis in first-degree kin. Functional assays for phagocyte oxidative burst and phagocytosis were conducted to exclude CGD. Results: WES identified two rare TYK2 variants (c.209_212del, pathogenic; c.2395G>A, previously reported as pathogenic in a Chinese patient with TYK2 deficiency) and a heterozygous MEFV duplication (c.761_764dup). Paternal DNA was unavailable; therefore, allelic phase could not be formally established, but the combined genotype and phenotype are consistent with autosomal recessive TYK2 deficiency. Sanger sequencing confirmed segregation of the frameshift TYK2 variant in the mother, while the clinically healthy brother carried only the wild-type allele. The missense alteration was exclusive to the proband. Conclusions: This case exemplifies the significance of contemplating TYK2 deficiency in pediatric patients with refractory mycobacterial infections, particularly in BCG-endemic locales. Genetic validation provided a definitive diagnosis, differentiating the condition from CGD and informing patient management. To our knowledge, this constitutes one of the inaugural genetically confirmed instances of TYK2 deficiency in Central Asia, enhancing regional epidemiological comprehension and emphasizing the role of molecular diagnostics in directing treatment and vaccination policies. Full article

In order to improve the accuracy of pipe burst detection in water distribution networks (WDNs), a novel small sample diagnosis method (SSDM) based on the head loss ratio (HLR) method and deep transfer learning (DTL) method has been proposed. In this paper, the burst state was quickly detected through the limited data analysis of pressure monitoring points. The HLR method was introduced to enhance data features. DTL was introduced to improve the accuracy of small sample burst detection. The simulated data and real data were enhanced by HLR. Then, the model was trained and obtained through the DTL. The performance of the model was evaluated in both simulated and real scenarios. The results indicate that the leaked features can be improved by 350% by the HLR. The accuracy of SSDM reaches 99.56%. The SSDM has been successfully applied to the detection of real WDNs. The proposed method provides potential application value for detecting pipe bursts. Full article

Tools for measuring the likelihood of relapse in infantile epileptic spasms syndrome (IESS) treatment could aid clinicians in making critical management decisions. High-frequency oscillations (HFOs), transient bursts of electroencephalography (EEG) activity with frequencies beyond 80 Hz, are a new and promising noninvasive biomarker. The present study aimed to investigate the association between the Burden of Amplitudes and Epileptiform Discharges (BASED) scores, an interictal EEG grading scale for IESS, and scalp HFOs in patients with IESS. The study enrolled 50 patients, 25 with a clinical diagnosis of IESS and 25 without epilepsy. The percentage of patients with at least one scalp HFO detected, stratified by BASED scores, differed significantly: for BASED scores ≤ 2, 7.7%; for 3, 16.7%; for 4, 87.5%; and for 5, 100% (p < 0.001). Compared with BASED scores ≤ 2, the median scalp HFO detection rate was significantly highest for BASED scores of 5 (median [IQR]: 6.24 [2.25–8.32], p < 0.001), followed by BASED scores of 4. The scalp HFO detection rates showed a better performance in estimating patients with BASED scores of 4 and 5. It is hoped that scalp HFOs can be used as an objective indicator to validate the results of BASED scores. Full article

Sensory integration theory (SIT), which posits that the neurological process of integrating sensory information from the environment and one’s body influences learning and behaviour, and the sensory processing measure (SPM), a psychometric tool with versions for individuals aged 4 months to 87 years, are fundamental to understanding and assessing sensory processing. This study examined the existing evidence on the SPM and SIT using scientometric and narrative methods. A search of Scopus and Web of Science Core Collection from 1983 to 2024 yielded 238 unique records after deduplication. Scientometric analysis, conducted with CiteSpace (Version 6.4.R1) and VOSviewer (Version 1.6.19) explored publication trends, keyword co-occurrences, and citation bursts. A narrative method, based on a purposive sample of studies selected by title relevance from the 238 records, provided qualitative insights into key themes and concepts. Scientometric analysis revealed 11 key clusters, including ‘sensory processing behaviour’, ‘classroom context’, and ‘using electroencephalogram (EEG) technology’, reflecting diverse research areas and a growing publication trend, particularly after 2011. A narrative analysis, guided by these clusters, explored sensory processing differences in children with developmental disorders like autism spectrum disorder (ASD) compared to typically developing children, the relationship between sensory processing and other functional areas, the impact of classroom contexts on sensory processing, the use of EEG in sensory processing disorder (SPD) diagnosis, and the effectiveness of interventions like sound-based therapy and sensory integration therapy. The combined approach highlighted the wide application of the SPM and SIT, informing future research directions, such as longitudinal studies, comparative effectiveness research, and cultural adaptations of assessments and interventions. Full article

Pathogenic variants in DNM1L, encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo DNM1L variant identified by whole exome sequencing performed more than 10 years after the patient’s death. Meanwhile, we reviewed the broadness and specificities of DNM1L-related phenotype. The patient, who exhibited developmental delay in her third year, developed a therapy-refractory myoclonic status epilepticus, followed by neurological deterioration with brain atrophy and refractory epilepsy. She died of heart failure due to hypertrophic cardiomyopathy. She was found to be heterozygous for the DNM1L variant (NM_ 012062.5):c.1201G>A, p.(Gly401Ser). We demonstrated its deleterious impact and dominant negative effect by assessing haploid and diploid mutant yeast strains, oxidative growth, oxygen consumption, frequency of petite, and architecture of the mitochondrial network. Structural modeling of p.(Gly401Ser) predicted the interference of the mutant protein in the self-oligomerization of the DRP1 active complex. DNM1L-related phenotypes include static or (early) lethal encephalopathy and neurodevelopmental disorders. In addition, there may be ophthalmological impairment, peripheral neuropathy, ataxia, dystonia, spasticity, myoclonus, and myopathy. The clinical presentations vary depending on mutations in different DRP1 domains. Few pathogenic variants, the p.(Gly401Ser) included, cause an encephalocardiomyopathy with refractory status epilepticus. Full article

Background/Objectives: Despite its low incidence, complete postoperative abdominal evisceration represents a complication requiring an urgent solution. We aimed to present a rare case of an abdominal evisceration of the omentum and small-bowel loops after a total abdominal hysterectomy and review the literature regarding this condition’s diagnosis and therapeutic management. Case report: On the sixth postoperative day for a uterine fibroid, a 68-year-old patient presented with an abdominal evisceration of the omentum and small bowel that occurred two hours before. An emergency laparotomy was performed to correct the evisceration and restore the integrity of the abdominal wall structure. The literature review was carried out in the PubMed, Embase, and Web of Science databases using the terms “abdominal wall dehiscence”, “abdominal evisceration”, “open abdomen”, “burst abdomen”, “abdominal fascial dehiscence”, “abdominal dehiscence post-hysterectomy”, and “hysterectomy complications” by identifying all-time articles published in English. Results: Seven studies were included in this electronic search. The early diagnosis of abdominal evisceration, the identification of risk factors and comorbidities, followed by the choice of surgical technique, and postoperative follow-up were parts of the standard algorithm for managing this life-threatening case. Conclusions: Abdominal evisceration, as a surgical emergency, requires the diagnosis and treatment of this complication alongside the identification of the risk factors that can lead to its occurrence, as well as careful postoperative monitoring adapted to each case. Full article

Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. Despite recent advances in our understanding of the genetic and molecular pathophysiology of X-linked and autosomal recessive CGD, and growth in the availability of functional and genetic testing, there remain significant barriers to early and accurate diagnosis. In the current review, we provide an up-to-date summary of CGD pathophysiology, underpinning current methods of diagnostic testing for CGD and closely related disorders. We present an overview of the benefits of early diagnosis and when to suspect and test for CGD. We discuss current and historical methods for functional testing of NADPH oxidase activity, as well as assays for measuring protein expression of NADPH oxidase subunits. Lastly, we focus on genetic and genomic methods employed to diagnose CGD, including gene-targeted panels, comprehensive genomic testing and ancillary methods. Throughout, we highlight general limitations of testing, and caveats specific to interpretation of results in the context of CGD and related disorders, and provide an outlook for newborn screening and the future. Full article

Pipe bursts in water distribution networks (WDNs) pose significant threats to the safety of distribution networks, driving attention to deep learning-based burst detection and localization. However, the applicability of different pressure features still needs to be compared and verified. A large number of nodes challenges deep learning with the excessive number of classification categories and low recognition accuracy. To address these problems, this paper extracts different burst pressure features, including pressure value, pressure difference, and pressure fluctuation ratio, and inputs one of these features into a Burst Diagnosis Multi-Stage Model (BDMM) based on three CS-LSTMs (a combination of the Cuckoo Search algorithm and a long short-term memory network). The first model addresses a binary classification problem, outputting labels indicating whether a pipe burst has occurred. The second one solves a multi-classification problem, outputting the label of the burst partition, and the third model also solves a multi-classification problem, outputting the ID of the bursting junction. The model is tested on a real network and outperforms ELM. For basic burst identification tasks using CS-LSTM, differences among the three features are minimal, while pressure difference and pressure fluctuation ratio exhibit superior performance to pressure value when resolving more complex problems like burst junction localization. Full article

Transcranial magnetic stimulation (TMS) therapy has few side effects and comparable therapeutic effects to antidepressant treatment, but few studies have introduced TMS therapy as an initial treatment for MDD. The objective of this study was to retrospectively compare the clinical outcomes between 50 MDD patients without antidepressants (i.e., TMS monotherapy) and 50 MDD patients with antidepressants plus TMS therapy, matched for age, sex, and depression severity. The presence or absence of antidepressant therapy in first-line treatment was determined via a detailed interview by psychiatrists. The study design was a retrospective observational case–control study using the TMS registry data. The key inclusion criteria were adult patients who met the diagnosis of MDD and received 20–30 sessions of intermittent theta-burst stimulation (iTBS) therapy to the left dorsolateral prefrontal cortex (DLPFC). In this study, the Montgomery–Åsberg Depression Rating Scale (MADRS) was used as the primary outcome measure. No significant group differences existed in the baseline MADRS total score between the unmedicated and medicated patient groups. Following TMS therapy, no significant group differences in response rate, remission rate, or relative total score change in the MADRS were observed. The main limitations were the retrospective design and the use of registry data as a source. Our findings suggest that TMS monotherapy may be as effective as TMS add-on therapy to antidepressants when used as the first-line therapy for MDD, but randomized controlled trials are needed. Full article

Up to 40% of patients with breast cancer (BC) have metastatic cells in the bone marrow (BM) at the initial diagnosis of localized disease. Despite definitive systemic adjuvant therapy, these cells survive in the BM microenvironment, enter a dormant state and recur stochastically for more than 20 years. Once they begin to proliferate, recurrent macrometastases are not curable, and patients generally succumb to their disease. Many potential mechanisms for initiating recurrence have been proposed, but no definitive predictive data have been generated. This manuscript reviews the proposed mechanisms that maintain BC cell dormancy in the BM microenvironment and discusses the data supporting specific mechanisms for recurrence. It addresses the well-described mechanisms of secretory senescence, inflammation, aging, adipogenic BM conversion, autophagy, systemic effects of trauma and surgery, sympathetic signaling, transient angiogenic bursts, hypercoagulable states, osteoclast activation, and epigenetic modifications of dormant cells. This review addresses proposed approaches for either eliminating micrometastases or maintaining a dormant state. Full article

(1) Background: Familial Mediterranean Fever (FMF) is the prototypal autoinflammatory disease, characterized by recurrent bursts of neutrophilic inflammation. (2) Methods: In this study we look at the most recent literature on this condition and integrate it with novel information on treatment resistance and compliance. (3) Results: The canonical clinical presentation of FMF is in children with self-limited episodes of fever and polyserositis, associated with severe long-term complications, such as renal amyloidosis. It has been described anecdotally since ancient times, however only recently it has been characterized more accurately. We propose an updated overview on the main aspects of pathophysiology, genetics, diagnosis and treatment of this intriguing disease. (4) Conclusions: Overall, this review presents the all the main aspects, including real life outcome of the latest recommendation on treatment resistance of FMF, a disease, that not only helped understanding the pathophysiology of the auto inflammatory process but also the functioning of the innate immune system itself. Full article

The converter transformer is the core equipment of HVDC transmission system, the valve-side winding of which needs to withstand DC voltage. Partial discharge is one of the main threats to the safe operation of converter transformer, yet the characteristics of partial discharge development of the oil-pressboard insulations under constant DC voltage are insufficiently understood. In order to better understand the partial discharge characteristics of the oil-pressboard insulation under DC voltage and provide deeper theoretical support for insulation diagnosis of converter transformers, development characteristics including the time-varying tendency of discharge magnitude and repetition rate of partial discharge in oil-pressboard insulation under constant positive and negative DC voltage were studied. The results indicate that the development of partial discharge in a needle-plane oil-pressboard insulation model under constant DC voltage has three stages: the intensive discharging stage, the silent-burst stage, and the breakdown stage. Throughout all stages, the partial discharge magnitude and repetition rate first decrease and increase afterwards. At the silent-burst stage, the partial discharge appears in the form of a “cluster” with very large magnitude and repetition rate. Each cluster exists for tens of seconds but with at a very long interval with each other. Further analysis shows that the repeated accumulation and dissipation of free charges on the surface of the pressboard cause the above phenomena. Negative charges are easy to accumulate and difficult to dissipate under the same voltage amplitude compared to positive charges, leading to a weaker actual electric field at the needle tip and thus partial discharges under negative DC voltage with a lower magnitude and longer interval. Full article

Production lines in manufacturing environments benefit from quality diagnosis methods based on learning techniques since their ability to adapt to the runtime conditions improves performance, and at the same time, difficult computational problems can be solved in real time. Predicting the divergence of a product’s physical parameters from an acceptable range of values in a manufacturing line is a process that can assist in delivering consistent and high-quality output. Costs are saved by avoiding bursts of defective products in the pipeline’s output. An innovative framework for the early detection of a product’s physical parameter divergence from a specified quality range is designed and evaluated in this study. This framework is based on learning automata to find the sequences of variables that have the highest impact on the automated sensor measurements that describe the environmental conditions in the production line. It is shown by elaborate evaluation that complexity is reduced and results close to optimal are feasible, rendering the framework suitable for deployment in practice. Full article

This work discusses diatomic molecular spectroscopy of laser-induced plasma and analysis of data records, specifically signatures of cyanide, CN. Line strength data from various databases are compared for simulation of the CN, $B{}^2{\Sigma }^{+}⟶X{}^2{\Sigma }^{+}$, $\Delta \mathrm{v}=0$ sequence. Of interest are recent predictions using an astrophysical database, i.e., ExoMol, a laser-induced fluorescence database, i.e., LIFBASE, and a program for simulating rotational, vibrational, and electronic spectra, i.e., PGOPHER. Cyanide spectra that are predicted from these databases are compared with line-strength data that have been in use by the author for the last three decades in the analysis of laser–plasma emission spectra. Comparisons with experimental laser–plasma records are communicated as well for spectral resolutions of 33 and 110 picometer. The accuracy of the CN line-strength data is better than one picometer. Laboratory experiments utilize 308 nm, 35 picosecond bursts within an overall 1 nanosecond pulse-width, and 1064 nm, 6 ns pulse-width radiation. Experimental results are compared with predictions. Differences of the databases are elaborated for equilibrium of rotational and vibrational modes and at an internal, molecular temperature of the order of 8,000 Kelvin. Applications of accurate CN data include, for example, combustion diagnosis, chemistry, and supersonic and hypersonic expansion diagnosis. The cyanide molecule is also of interest in the study of astrophysical phenomena. Full article