Diagnostic Methods Research Articles

The Role of Oxidative Stress in Autism Spectrum Disorder Pathophysiology, Diagnosis and Treatment

Autism spectrum disorder (ASD) is a significant health problem with no known single cause. There is a vast number of evidence to suggest that oxidative stress plays an important role in this disorder. The author of this article reviewed the current literature in order to summarise the knowledge on the subject. In this paper, the role of oxidative stress is investigated in the context of its influence on pathogenesis, the use of oxidative stress biomarkers as diagnostic tools and the use of antioxidants in ASD treatment. Given the heterogeneity of ASD aetiology and inadequate treatment approaches, the search for common metabolic traits is essential to find more efficient diagnostic tools and treatment methods. There are increasing data to suggest that oxidative stress is involved in the pathogenesis of ASD, both directly and through its interplay with inflammation and mitochondrial dysfunction. Oxidative stress biomarkers appear to have good potential to be used as diagnostic tools to aid early diagnosis of ASD. The results are most promising for glutathione and its derivatives and also for isoprostanses. Probably, complex dedicated multi-parametric metabolic panels may be used in the future. Antioxidants show good potential in ASD-supportive treatment. In all described fields, the data support the importance of oxidative stress but also a need for further research, especially in the context of sample size and, preferably, with a multicentre approach.

Prediction Liver Diseases based on Machine Learning and Deep Learning Techniques: A Review

Various critical issues in liver diseases include cirrhosis, hepatitis, and liver cancer, which can be fatal. They indeed require early diagnosis with appropriate diagnosis of the disease. The different conventional diagnostic methods generally can't identify these diseases during their early stages; consequently, prognosis is not always good. Recently, in subsequence to improve this gap, ML/DL has emerged as the tool for transformation. It gives an overview of different ML and DL models used for predicting liver diseases, including supervised, unsupervised, semi-supervised learning, and reinforcement learning, and emphasizes the better performance that deep learning models like Convolutional Neural Networks (CNNs) and Bidirectional Long Short-Term Memory (Bi-LSTM) networks are providing in handling complex medical data. These DL models perform significantly better in diagnostic accuracy when compared to the traditional ML methods, hence holding tremendous potential in their medical applications. Besides, hybrid and ensemble methods, which are combined models, are emphasized for their ability to overcome the limitations of individual algorithms and enhance diagnostic precision and robustness. This study further underlines the need to develop more advanced DL methodologies for the early detection and intervention in liver diseases, which is necessary to reduce the global burden and improve patient outcomes.

The Burden of Asymptomatic Malaria Infection in Children in Sub-Saharan Africa: A Systematic Review and Meta-Analysis Exploring Barriers to Elimination and Prevention

Abstract Background Malaria remains a major public health problem that continues to cause death in under-five children nearly every minute. The purpose of this systematic review and meta-analysis was to determine the pooled prevalence and predictors of asymptomatic malaria in children in Sub-Saharan Africa. Methods Relevant studies were retrieved from Web of Science, Cochrane Library, PubMed, Google Scholar, Gray Literature, Embase, and African Online Journal databases published between 2014 and 2024. Data quality was assessed by a tool developed by Hoy and colleagues and classified as low, moderate, or high risk of bias. We performed a random effects model and sub-group analysis by age group, region, and diagnostic methods. The protocol was registered in the PROSPERO (CRD42024584354). Results A total of 24 cross-sectional studies with 19,169 participants from 10 Sub-Saharan Africa countries were included in the analyses under the age of 15 years. The overall prevalence of asymptomatic malaria was 25% (95% CI: 20–30%) and showed no evidence of publication bias. Utilization of insecticide-treated nets was significantly associated with asymptomatic malaria. In addition, the overall prevalence of anemia in asymptomatic Plasmodium-infected children under the age of 15 was found to be 35% (95% CI: 24–46%). Subgroup analysis showed significant regional and diagnostic tool differences in asymptomatic Plasmodium infection. Conclusion The findings of this study revealed a high prevalence of asymptomatic plasmodium infection in children with significant regional variations. There was a significant association with anemia and the utilization of insecticide-treated nets.

Update for diagnosis and treatment of syndrome after cardiac injury: a mini-review

Post-Cardiac Injury Syndrome (PCIS) refers to a collective term encompassing post-myocardial infarction syndrome, post-pericardiotomy syndrome, and post-traumatic pericarditis. With an aging population, the incidence of PCIS is on the rise annually. This condition is considered to be an autoimmune-mediated inflammatory response leading to pericarditis as the primary manifestation of the cardiac disease. Early diagnosis and effective treatment can improve the quality of life and prognosis for PCIS patients. This review aims to provide a comprehensive explicit of the epidemiological characteristics, relevant pathophysiological mechanisms, diagnostic methods, and treatment strategies associated with PCIS, further fostering a deeper understanding and promoting advancements in the prevention and treatment of PCIS.

Engineering Gizmos for Short Cancer Genetic Fragments Discrimination.

Currently, mankind is fiercely struggling with cancer. Recently, we have been winning the battle against cancer through precision medicine and accompanying diagnostic methods, and we are raising many hopes with blockbuster drugs. It would be even better if we could read the cancer nucleotide sequence, identify them in advance, and suggest treatments simultaneously. However, this may be an impossible dream because it takes a lot of time and effort to diagnose and ensure all the long gene sequences of cancer at once. Thus, victory will be even closer if a rapid and accurate diagnosis of the cancer-specific gene biomarkers that will soon be imprinted can be made. With the advent of nanotechnology, a new short cancer diagnostic toolkit has been proposed to achieve the goal. This review presents a small diagnostic device that detects genetic fragments (simply 'Gizmo') of certain cancers. The development of numerous diagnostic methods has focused on (1) directly detecting pre-selectively targeted genes using novel diagnostic systems, and (2) indirectly detecting substantial improvements in diagnostic sensitivity only through detection signal amplification without existing gene amplification steps. Our fight against cancer is not a dream, but the result of success, and it is assumed that victory will accelerate.

Kidney Fibrosis In Vitro and In Vivo Models: Path Toward Physiologically Relevant Humanized Models.

Chronic kidney disease (CKD) affects over 10% of the global population and is a leading cause of mortality. Kidney fibrosis, a key endpoint of CKD, disrupts nephron tubule anatomy and filtration function, and disease pathomechanisms are not fully understood. Kidney fibrosis is currently investigated with in vivo models, that gradually support the identification of possible mechanisms of fibrosis, but with limited translational research, as they do not fully recapitulate human kidney physiology, metabolism, and molecular pathways. In vitro 2D cell culture models are currently used, as a starting point in disease modeling and pharmacology, however, they lack the 3D kidney architecture complexity and functions. The failure of several therapies and drugs in clinical trials highlights the urgent need for advanced 3D in vitro models. This review discusses the urinary system's anatomy, associated diseases, and diagnostic methods, including biomarker analysis and tissue biopsy. It evaluates 2D and in vivo models, highlighting their limitations. The review explores the state-of-the-art 3D-humanized in vitro models, such as 3D cell aggregates, on-chip models, biofabrication techniques, and hybrid models, which aim to mimic kidney morphogenesis and functions. These advanced models hold promise for translating new therapies and drugs for kidney fibrosis into clinics.

Correlation of clinically significant prostate cancer sites across multiparametric MRI, prostate biopsy, and whole-mount pathology for optimal prostate biopsy strategy

Data from patients with suspicious lesions on multiparametric magnetic resonance (mpMRI) and a diagnosis of clinically significant prostate cancer (csPCa) who underwent radical prostatectomy (RP) were collected. The aim was to compare csPCa sites identified through whole-mount pathological analysis (WMA) after RP with PI-RADS ≥ 3 lesions identified on mpMRI, and with csPCa foci detected through targeted-biopsy (TB) or combined targeted + systematic biopsy (TSB). A paired Student’s t-test and Pearson correlation analysis were performed to evaluate the agreement between these diagnostic methods. A total of 106 patients were included in the TSB group and 95 in the TB group. The correlation between mpMRI, PB, and WMA was moderate and comparable in both groups. No correlation between PB and WMA was found in the TB group for PI-RADS3 lesions, while a moderate-strong correlation was observed when comparing mpMRI, PB, and WMA for PI-RADS > 3 lesions. About 50% of csPCa sites remained undetected by mpMRI. TSB was able to identify 16.5% more csPCa sites than TB. mpMRI is an accurate method in the diagnosis of PCa, especially for PI-RADS > 3 lesions, although some csPCa sites remained undetected. The use of TSB improved the location agreement between PB and WMA, increasing detection rates up to 79%.

Looking to the Future of Viral Vectors in Ocular Gene Therapy: Clinical Review

Eye diseases can significantly affect the quality of life of patients due to decreased visual acuity. Although modern ophthalmological diagnostic methods exist, some diseases of the visual system are asymptomatic in the early stages. Most patients seek advice from an ophthalmologist as a result of rapidly progressive manifestation of symptoms. A number of inherited and acquired eye diseases have only supportive treatment without eliminating the etiologic factor. A promising solution to this problem may be gene therapy, which has proven efficacy and safety shown in a number of clinical studies. By directly altering or replacing defective genes, this therapeutic approach will stop as well as reverse the progression of eye diseases. This review examines the concept of gene therapy and its application in the field of ocular pathologies, emphasizing the most recent scientific advances and their potential impacts on visual function status.

C-Mill sensory treadmill in the treatment of idiopathic normotensive hydrocephalus

To present the first experience of C-Mill in assessing the motor function in patients with iNPH. The study is carried out at the Pavlov State Medical University and Hospital for War Veterans. To date, we enrolled 10 patients with iNPH and examined these ones using a unique multifunctional tool C-Mill before surgery, after tap test and after cerebrospinal fluid bypass surgery. In all cases, we obtained positive postoperative results with improvement of motor function. C-Mill is a special treadmill with built-in tools designed to analyze human gait and balance, as well as for rehabilitation to improve gait and balance disorders in virtual reality. C-Mill sensory treadmill is valuable to assess motor disorders in patients with iNPH before surgery, improve the diagnostic process when selecting patients for surgery using invasive diagnostic methods and significantly improve the accuracy of postoperative evaluating the effectiveness of surgical treatment by quantifying the regression of motor disorders.

Neuroimaging predictors of favorable outcomes after shunting procedures in patients with Hakim-Adams syndrome: a pilot prospective randomized trial

To evaluate diagnostic properties of MRI data comprehensive assessment model compared to traditional invasive diagnostic method (spinal tap test) in prospective randomized trial. MRI data and postoperative outcomes in patients diagnosed with idiopathic normal pressure hydrocephalus who underwent ventriculoperitoneal shunting between September 2022 and April 2024 were analyzed in prospective randomized study. In the study group, surgical decisions were based on MRI data, while the control group followed an algorithm incorporating invasive diagnostic method (spinal tap-test). Ventriculoperitoneal shunting with constant-pressure valve implantation was performed in all patients selected for surgery. The study included 54 patients (25 ones in the study group and 29 ones in the control group). Surgery was performed in 21 and 20 patients, respectively. We found no advantages of invasive diagnostic methods over comprehensive assessment of MRI data in predicting the effectiveness of surgical treatment. Comprehensive assessment of MRI findings allows for avoiding invasive diagnostic procedures in decision-making on cerebrospinal fluid shunting surgery in some patients with idiopathic normal pressure hydrocephalus.

Preclinical research models for endometrial cancer: development and selection of animal models

Endometrial cancer (EC) is the most common gynecological malignancy in developed countries, with rising incidence in recent years. Experimental animal models are crucial for studying the pathogenesis, advancing diagnostic methods, and developing new treatments. We review five main EC animal models. The use of spontaneous and chemically-induced models has decreased, with transgenic mouse and xenograft models becoming the most widely used. These models better simulate tumor molecular mechanisms and treatments, with the organoid-based patient-derived xenograft model (O-PDX) showing great promise in drug screening and personalized therapy. The application of humanized models remains limited due to technical challenges and high costs. In this review, we highlight the strengths and limitations of each model to guide researchers in their selection.

Editorial: Nervous regeneration and functional recovery in the central and peripheral nervous systems: diagnostic methods, gene/cell therapies, and interventions

Editorial: Nervous regeneration and functional recovery in the central and peripheral nervous systems: diagnostic methods, gene/cell therapies, and interventions

Comparison evaluation of bacterial DNA extraction methods for improved molecular diagnostic accuracy of sepsis-causing pathogens in clinical whole blood samples

Sepsis, a leading cause of mortality, requires rapid and accurate pathogen identification to ensure effective treatment. Current diagnostic methods such as blood cultures are time-consuming, whereas molecular diagnostic techniques represent a promising alternative for faster pathogen detection. Therefore, the aim of this study was to evaluate different DNA extraction methods for the improved detection of infectious pathogens in the bloodstream. Specifically, we compared one column-based DNA extraction method (QIAamp DNA Blood Mini Kit) with two magnetic bead-based DNA extraction methods (K-SL DNA Extraction Kit and GraBon™ system). Real-time PCR was performed using specific primers to assess the efficiency of each method. The K-SL DNA Extraction Kit and GraBon™ system exhibited higher accuracy rates of 77.5% (22/40) and 76.5% (21/40), respectively, compared to the QIAamp DNA Blood Mini Kit, which had an accuracy rate 65.0% (12/40) for Escherichia coli detection, whereas the GraBon™ system demonstrated higher accuracy rate of 77.5% (22/40) than the other two methods, which had an accuracy rates of 67.5% (14/40) for Staphylococcus aureus detection. All methods displayed high specificity for negative samples (100%). These findings highlight the superior performance of magnetic bead-based methods, particularly when automated, for extracting bacterial DNA from whole blood samples. Such methods may enable the more rapid and accurate diagnosis of bloodstream infections, potentially improving patient outcomes.

A turn-on fluorescent immunosensor for neurodegenerative disease related neurofilament light chain protein

Neurodegenerative diseases (NDs) pose significant challenges to both longevity and quality of life, affecting millions worldwide and ranking as a major cause of global morbidity and disability. There is an urgent need for less invasive, cost-effective diagnostic methods that can reliably detect ND-related biomarkers in readily available biofluids such as serum. In response to this need, we have developed an ultra-sensitive assay that utilizes magnetic nanoparticles and a novel, tailor-made turn-on fluorescent probe named F-SPG. This innovative assay enables the detection of neurofilament light chain (NfL) at femtomolar concentrations, with a remarkable detection limit of 24 fM which is at least 18 times more sensitive than the conventional ELISA kits. Our assay’s design eliminates the need for traditional secondary antibody in immunoassay, thereby streamlining the diagnostic process. Recoveries exceeding 95% underscore the assay’s precision and reliability. It has proven effective in distinguishing Alzheimer’s Disease patients from healthy individuals by quantifying serum NfL levels, showcasing its potential as a cost-effective, ultra-sensitive tool for the early screening of neurodegenerative diseases.Graphical abstract

Electrochemical Technology for the Detection of Tau Proteins as a Biomarker of Alzheimer’s Disease in Blood

Alzheimer’s disease (AD) is a prevalent neurodegenerative disorder and a significant cause of dementia in elderly individuals, with a growing prevalence in our aging population. Extracellular amyloid-β peptides (Aβ), intracellular tau proteins, and their phosphorylated forms have gained prominence as critical biomarkers for early and precise diagnosis of AD, correlating with disease progression and response to therapy. The high costs and invasiveness of conventional diagnostic methods, such as positron emission tomography (PET) and magnetic resonance imaging (MRI), limit their suitability for large-scale or routine screening. However, electrochemical (EC) analysis methods have made significant progress in disease detection due to their high sensitivity, excellent specificity, portability, and cost-effectiveness. This article reviews the progress in EC biosensing technologies, focusing on the detection of tau protein biomarkers in the blood (a low-invasive, accessible diagnostic medium). The article then discusses various EC sensing platforms, including their fabrication processes, limit of detection (LOD), sensitivity, and clinical potential to show the role of these sensors as transformers changing the face of AD diagnostics.

Crohn's Disease With Latent Tuberculosis Infection or Intestinal Tuberculosis: Rapid Discrimination by Targeted Next-Generation Sequencing.

Discriminating Crohn's disease (CD) with latent tuberculosis infection (LTBI) from intestinal tuberculosis (ITB) in tuberculosis-endemic regions remains challenging. To assess whether targeted next-generation sequencing (tNGS) could be an efficient method for ITB diagnosis and discrimination from CD with LTBI. The study was conducted prospectively from September 2020 until December 2023. We recruited patients with undetermined intestinal ulcers and positive interferon-gamma release assay. We compared tNGS (using fresh biopsy tissue samples from ulcer bases) to pathological detection of caseous necrotising granuloma, acid-fast bacillus (AFB) staining, tuberculosis polymerase chain reaction (TB-PCR) for diagnostic efficiency. ITB was diagnosed based on cure by anti-tuberculosis therapy and comprehensive clinical evaluation. Of the 100 patients included, 66 had ITB and 34 had CD with LTBI. The sensitivity, specificity, positive predictive value and negative predictive value of tNGS for ITB were 83% (72%-91%), 100% (87%-100%), 100% (92%-100%) and 76% (60%-87%), respectively. TNGS had significantly higher diagnostic sensitivity than AFB staining [15% (4%-39%), p < 0.05], TB-PCR [22% (12%-36%), p < 0.05] and detection of caseous necrotising granulomas [17% (9%-28%), p < 0.05]. The models combining multiclinical factors increased sensitivity (97% vs. 83%) than tNGS alone. No patients with CD and LTBI had positive tNGS. TNGS using fresh biopsy tissue from ulcer bases is highly sensitive and specific, with superiority over other traditional diagnostic methods for ITB detection. TNGS could facilitate rapid diagnosis of ITB and discrimination from CD with LTBI, particularly in high TB-endemic countries.

The interpretation of magnifying endoscopy for the diagnosis of colorectal lesions.

Accurate endoscopic diagnosis is crucial for determining the appropriate treatment strategy for colorectal lesions, which may include cold snare polypectomy (CSP), endoscopic mucosal resection (EMR), or endoscopic submucosal dissection (ESD). While white light imaging (WLI) serves as the basic and initial method for endoscopic diagnosis, additional techniques such as narrow-band imaging (NBI), blue laser/light imaging (BLI), and magnified observation using pit patterns are necessary when WLI results are inconclusive. These advanced diagnostic methods enable precise identification of lesions such as adenoma, T1 cancer, and sessile serrated lesion (SSL). Furthermore, recent advancements in endoscopic systems have enhanced image clarity and detail, thereby improving diagnostic accuracy. This review provides an in-depth discussion on how magnified endoscopy, utilizing the Japan NBI Expert Team (JNET) classification with NBI/BLI and pit pattern classification with chromoendoscopy, aids in the accurate diagnosis of colorectal lesions.

Eschar is not the sole clue for scrub typhus: a retrospective analysis of pediatric scrub typhus without eschars.

This study aims to investigate the clinical characteristics and analyze the diagnostic approaches employed for pediatric cases of scrub typhus (ST) that present without eschars. A retrospective analysis was conducted on 256 ST cases hospitalized at Kunming Children's Hospital in Yunnan Province, China, from January 2015 to November 2022. Patients were categorized into an eschar group (n = 213) and a non-eschar group (n = 43). Clinical data were collected and analyzed for significant differences between the groups. This study particularly highlights the diagnostic methods for confirming ST in cases without eschars. The non-eschar group exhibited a higher incidence of pneumonia, a lower history of outdoor activities prior to onset, and a longer hospital stay; however, the remaining clinical and laboratory characteristics did not show statistically significant differences. The most common site for eschar formation was the axilla (12.7%, n = 27), followed by the groin (9.4%, n = 20) and auricle (8.9%, n = 19). Other notable sites included the scalp (7.5%, n = 16) and shoulder (6.6%, n = 14). The Weil-Felix test (OXK) demonstrated a positivity rate of 69.7% (23 out of 33 cases), cerebrospinal fluid (CSF) PCR had a positivity rate of 50.0% (3 out of 6 cases), and blood PCR exhibited a positivity rate of 92.3% (24 out of 26 cases). These findings underscore the importance for clinicians to consider ST in pediatric patients, even in the absence of eschars. A comprehensive evaluation based on epidemiology, symptoms, signs, and laboratory characteristics is essential. Blood PCR testing methods are recommended. Not applicable.

The Stealth and Potentially Fatal Nature of Kingella kingae Outbreaks in Daycare Facilities

Abstract Although Kingella kingae infections are usually sporadic, outbreaks of K. kingae disease have been reported. Outbreaks of invasive K. kingae infections in daycare centres were searched through the Pubmed database. Twenty-seven outbreaks have been detected in North America, Western Europe, and Israel. The median age of the 72 affected attendees was 14 months, and the attack rate was 18%. Osteoarthritis was diagnosed in 66 (92%) attendees, and endocarditis in three (4%), of which two died. A high prevalence of the invasive strains was found among asymptomatic classmates. Genomic analysis of the available strains identified the highly invasive sequence-type complexes 23/25, 14, or 6 in 12 of 13 (92%) outbreaks. Kingella kingae strains causing daycare outbreaks exhibit enhanced colonization, transmissibility, and virulence. Increased awareness of this emerging public health problem and the use of molecular diagnostic methods are recommended for the early identification of outbreaks and prevent fatal outcomes.

Morphological and molecular characterization of avian trypanosomes in domestic chickens (Gallus gallus domesticus) in Southeast Asia and review of the parasite morphometry in different avian hosts

ABSTRACT Avian trypanosomiasis is caused by flagellate protists of the genus Trypanosoma (Trypanosomatidae, Kinetoplastida). These parasites are transmitted by various blood-sucking arthropods. While these parasites are generally considered to have low pathogenicity, certain species can induce clinical symptoms in susceptible birds. In this study, detail morphological and molecular characteristics of Trypanosoma species isolated from domestic chicken (Gallus gallus domesticus) in Northeastern Thailand were investigated. In total, 58 buffy coat blood films, 60 thin blood films of fresh blood and 60 partial DNA sequences were analysed. Subsequently, Trypanosoma avium and Trypanosoma calmettei, which are rarely reported species in poultry as well as Trypanosoma sp. were characterised. Additionally, we provided the details of reviewed information of the parasite morphometry in different avian hosts. Phylogenetic analysis identified the most closely related avian Trypanosoma lineages. This study reports T. avium in domestic chickens and along with molecular characterization of T. calmettei, which are rarely reported species. Buffy coat and nested-PCR diagnostic methods were nearly similar in terms of sensitivity for trypanosome diagnostics, and both methods were more sensitive in comparison to microscopic examination of thin blood films. Relatively cheap buffy coat method is helpful for screening of trypanosomes infection in poultry, particularly during rapid fieldwork. In parasitology research, buffy coat and nested-PCR diagnostics are worth combining with thin blood smear microscopic examination, which provides valuable information about non-deformed trypomastigotes that are essential for morphospecies identification.