Diagnosis Of Disease Research Articles

Decoding pulsatile patterns of cerebrospinal fluid dynamics through enhancing interpretability in machine learning

Analyses of complex behaviors of Cerebrospinal Fluid (CSF) have become increasingly important in diseases diagnosis. The changes of the phase-contrast magnetic resonance imaging (PC-MRI) signal formed by the velocity of flowing CSF are represented as a set of velocity-encoded images or maps, which can be thought of as signal data in the context of medical imaging, enabling the evaluation of pulsatile patterns throughout a cardiac cycle. However, automatic segmentation of the CSF region in a PC-MRI image is challenging, and implementing an explained ML method using pulsatile data as a feature remains unexplored. This paper presents lightweight machine learning (ML) algorithms to perform CSF lumen segmentation in spinal, utilizing sets of velocity-encoded images or maps as a feature. The Dataset contains 57 PC-MRI slabs by 3T MRI scanner from control and idiopathic scoliosis participants are involved to collect data. The ML models are trained with 2176 time series images. Different cardiac periods image (frame) numbers of PC-MRIs are interpolated in the preprocessing step to align to features of equal size. The fivefold cross-validation procedure is used to estimate the success of the ML models. Additionally, the study focusses on enhancing the interpretability of the highest-accuracy eXtreme gradient boosting (XGB) model by applying the shapley additive explanations (SHAP) technique. The XGB algorithm presented its highest accuracy, with an average fivefold accuracy of 0.99% precision, 0.95% recall, and 0.97% F1 score. We evaluated the significance of each pulsatile feature's contribution to predictions, offering a more profound understanding of the model's behavior in distinguishing CSF lumen pixels with SHAP. Introducing a novel approach in the field, develop ML models offer comprehension into feature extraction and selection from PC-MRI pulsatile data. Moreover, the explained ML model offers novel and valuable insights to domain experts, contributing to an enhanced scholarly understanding of CSF dynamics.

Skin colour and disease diagnosis: A cross-sectional study of medical students in Kuwait.

Skin colour and disease diagnosis: A cross-sectional study of medical students in Kuwait.

Building Digital Twins for Cardiovascular Health: From Principles to Clinical Impact.

The past several decades have seen rapid advances in diagnosis and treatment of cardiovascular diseases and stroke, enabled by technological breakthroughs in imaging, genomics, and physiological monitoring, coupled with therapeutic interventions. We now face the challenge of how to (1) rapidly process large, complex multimodal and multiscale medical measurements; (2) map all available data streams to the trajectories of disease states over the patient's lifetime; and (3) apply this information for optimal clinical interventions and outcomes. Here we review new advances that may address these challenges using digital twin technology to fulfill the promise of personalized cardiovascular medical practice. Rooted in engineering mechanics and manufacturing, the digital twin is a virtual representation engineered to model and simulate its physical counterpart. Recent breakthroughs in scientific computation, artificial intelligence, and sensor technology have enabled rapid bidirectional interactions between the virtual-physical counterparts with measurements of the physical twin that inform and improve its virtual twin, which in turn provide updated virtual projections of disease trajectories and anticipated clinical outcomes. Verification, validation, and uncertainty quantification builds confidence and trust by clinicians and patients in the digital twin and establishes boundaries for the use of simulations in cardiovascular medicine. Mechanistic physiological models form the fundamental building blocks of the personalized digital twin that continuously forecast optimal management of cardiovascular health using individualized data streams. We present exemplars from the existing body of literature pertaining to mechanistic model development for cardiovascular dynamics and summarize existing technical challenges and opportunities pertaining to the foundation of a digital twin.

Current state and future perspectives in the diagnosis of eyelid margin disease: clinical review.

The eyelid margin is vital to ocular surface integrity. Much peer-reviewed literature has been established in eyelid margin inflammation, better known as blepharitis. The purpose was to review and understand the impact of eyelid margin disease. Anterior blepharitis causes inflammation at the eyelash base, ciliary follicles, and the palpebral skin. Posterior blepharitis occurs when there is inflammation with the posterior eyelid margin disease. In common usage, the term "blepharitis" used alone almost always refers to anterior blepharitis. Classification of eyelid margin disease should be based on etiopathogenesis, location, primary vs secondary, and chronicity. Blepharitis has several etiopathologies (infectious, inflammatory, and squamous). Meibomian gland dysfunction (MGD) can refer to the functional and/or structural problems with the meibomian gland. Meibomitis (or meibomianitis) occurs when there is inflammation associated with the MGD. The presence of blepharitis and/or MGD (with or without inflammation) can affect the ocular surface and thereby affect anterior segment and cataract surgeries. This review article evaluates the differential diagnoses of eyelid margin disease, including various forms of blepharitis, MGD, and meibomitis.

SATCAS: A CRISPR/Cas13a-based simultaneous amplification and testing platform for one-pot RNA detection and SNPs distinguish in clinical diagnosis

The clinical diagnosis of pathogen infectious diseases increasingly requires sensitive and rapid RNA detection technologies. The RNA-guided clustered regularly interspaced short palindromic repeats (CRISPR)/Cas13a system has shown immense potential in molecular diagnostics due to its trans-cleavage activity. However, most Cas13a-based detection methods require an amplicon transcription step, and the multi-step open-tube operations are prone to contamination, limiting their widespread application. Here, we propose an ultrasensitive (single-copy range, ∼aM) and rapid (within 40 min) isothermal one-pot RNA detection platform, termed SATCAS (Simultaneous Amplification and Testing platform based on Cas13a). This method effectively distinguishes viable bacteria (0%–100%) under constant total bacterial conditions, demonstrating its robustness and universality. SATCAS excels in identifying single nucleotide polymorphisms (SNPs), particularly detecting 0.5% drug-resistant mutations. We validated SATCAS by detecting infections in biological samples from 68 HBV, 23 EBV, and 48 SARS-CoV-2 patients, achieving 100% sensitivity, 92.86% specificity, and 97.06% accuracy in HBV infection testing. We anticipate that SATCAS has broad application potential in the early diagnosis, subtyping, drug resistance detection, and point-of-care monitoring of pathogen infectious diseases.

Advances in the diagnosis of ocular diseases: an innovative approach through an expert system

In the context of ophthalmic care, where early diagnosis of eye disorders plays a crucial role in patients' quality of life, this study focused on the development and evaluation of an expert system based on SWI Prolog. The main objective of this research was to provide an effective method for the preliminary diagnosis of ocular disorders, including cataract, trachoma, uveitis, glaucoma, and presbyopia. For the evaluation of the system, a confusion matrix was implemented and accuracy, sensitivity and specificity were calculated using a sample of 30 cases, of which 20 were positive and 10 negatives. The findings revealed an outstanding accuracy of 95%, with a sensitivity and specificity of 90%. This highlights the potential of the tool as an effective means of early detection of visual problems. In conclusion, this expert system represents a significant advance in ophthalmologic diagnosis, with important implications for clinical care and patients' quality of life, although expansion and validation of the tool in further clinical studies is suggested for its wider and more successful implementation in the field of ophthalmology.

Clinical and Economic Impact of Early Diagnosis of Chronic Kidney Disease in General Practice: The Endorse Study

Clinical and Economic Impact of Early Diagnosis of Chronic Kidney Disease in General Practice: The Endorse Study

Kidney failure amongst Irish Travellers.

The occurrence of Kidney Failure with Replacement Therapy (KFRT) amongst Irish Travellers has not been well described. This study aims to determine the burden of KFRT amongst the Irish Traveller population and identify determinants of health amongst this cohort which may differ from the general population in Ireland. This retrospective cohort study included self-identifying Irish Travellers with KFRT registered in the National Kidney Disease Clinical Patient Management System between 1995 and 2022. KFRT was defined as Chronic Kidney Disease stage 5 (CKD G5) treated by dialysis or CKD G1-G5 after transplantation. The primary outcome measure was the prevalence of KFRT in Irish Travellers. Secondary exploratory outcomes included age at diagnosis, family history, biopsy diagnosis, kidney replacement therapy (KRT) modality, time to initiation of KRT, primary vascular access used, and time to receive a kidney transplant. Four of six Irish hospital groups participated in the study. A total of 38 patients were identified as Irish Travellers with KFRT, with a crude prevalence rate of KFRT of 0.12% (CI 0.084-0.161, 95%) or 11.9 per 10,000 Irish Travellers. The mean age for diagnosis of kidney disease was 43 (SD, 20.8) and at commencement of KRT was 45 (SD, 20.9) years. A biopsy-proven diagnosis was provided in 24%. Twenty-two per cent was diagnosed with polycystic kidney disease or congenital anomalies of the kidney and urinary tract. The predominant modality for KRT was haemodialysis (89%), with central venous catheters being the most common initial vascular access (79%). Kidney transplants occurred in 45% of those studied, with a mean waiting time of 1.96 (SD, 1.6) years. The Irish Traveller community have similar prevalence of KFRT when compared to the national prevalence, with a short time interval from diagnosis to commencement of KRT. They are less likely to avail of home therapies but have comparable wait times to the national waiting time to receive a kidney transplant.

Double-Edged Sword: A Positive Brain Scan Result Heightens Confidence in an Alzheimer's Diagnosis But Also Leads to Higher Stigma Among Older Adults in a Vignette-Based Experiment.

Early diagnosis of Alzheimer's disease (AD) using brain scans and other biomarker tests will be essential to increasing the benefits of emerging disease-modifying therapies, but AD biomarkers may have unintended negative consequences on stigma. We examined how a brain scan result affects AD diagnosis confidence and AD stigma. The study used a vignette-based experiment with a 2 × 2 × 3 factorial design of main effects: a brain scan result as positive or negative, treatment availability and symptom stage. We sampled 1,283 adults ages 65 and older between June 11and July 3, 2019. Participants (1) rated their confidence in an AD diagnosis in each of four medical evaluations that varied in number and type of diagnostic tools and (2) read a vignette about a fictional patient with varied characteristics before completing the Modified Family Stigma in Alzheimer's Disease Scale (FS-ADS). We examined mean diagnosis confidence by medical evaluation type. We conducted between-group comparisons of diagnosis confidence and FS-ADS scores in the positive versus negative brain scan result conditions and, in the positive condition, by symptom stage and treatment availability. A positive versus negative test result corresponds with higher confidence in an AD diagnosis independent of medical evaluation type (all p < .001). A positive result correlates with stronger reactions on 6 of 7 FS-ADS domains (all p < .001). A positive biomarker result heightens AD diagnosis confidence but also correlates with more AD stigma. Our findings inform strategies to promote early diagnosis and clinical discussions with individuals undergoing AD biomarker testing.

The Co-pathogenic Target Gene CNTN1 Involved in Coronary Artery Disease and Pulmonary Arterial Hypertension Has Potential for Diagnosis of Coronary Artery Disease.

We aimed to find a gene for coronary artery disease (CAD) early diagnosis by detecting co-pathogenic target gene involved in CAD and pulmonary arterial hypertension (PAH).&#13; &#13; Methods: Datasets were obtained from the Gene Expression Omnibus (GEO) database, including GSE113079, GSE113439, and GSE12288, to investigate gene expression patterns in cardiovascular diseases. Weighted Gene Co-expression Network Analysis (WGCNA) was performed to identify gene modules associated with clinical traits. Differential gene expression analysis and functional enrichment analysis were carried out. Protein-protein interaction (PPI) networks were constructed. JASPAR database and FIMO tool were utilized to predict transcription factor (TF) binding sites.&#13; &#13; Results: Fifteen key genes were identified in CAD and PAH, with CNTN1 being prioritized for further investigation due to its high connectivity degree. Upstream regulation analysis identified potential TFs (DRGX, HOXD3, and RAX) and 7 miRNAs targeting CNTN1. The expression profile of CNTN1 was significantly upregulated in CAD samples, and ROC analysis indicated potential diagnostic value for CAD. CMap database analysis predicted potential targeted drugs for CAD.&#13; &#13; Conclusion: CNTN1 was detected as a co-pathogenetic gene for CAD and PAH. It is highly expressed in CAD patients and has potential value for CAD diagnosis. CNTN1 is potentially regulated by 3 TFs and 7 miRNAs.

New Diagnosis of Congenital Heart Disease in a 54-Year-Old Male After Presenting With Spontaneous Atrial Flutter With 1:1 AV Conduction: A Case Report

New Diagnosis of Congenital Heart Disease in a 54-Year-Old Male After Presenting With Spontaneous Atrial Flutter With 1:1 AV Conduction: A Case Report

Potential of extracellular vesicles in the pathogenesis, diagnosis and therapy for parasitic diseases.

Parasitic diseases have a significant impact on human and animal health, representing a major hazard to the public and causing economic and health damage worldwide. Extracellular vesicles (EVs) have long been recognized as diagnostic and therapeutic tools but are now also known to be implicated in the natural history of parasitic diseases and host immune response modulation. Studies have shown that EVs play a role in parasitic disease development by interacting with parasites and communicating with other types of cells. This review highlights the most recent research on EVs and their role in several aspects of parasite-host interactions in five key parasitic diseases: Chagas disease, malaria, toxoplasmosis, leishmaniasis and helminthiases. We also discuss the potential use of EVs as diagnostic tools or treatment options for these infectious diseases.

The Role of Long Noncoding RNAs in Vascular Smooth Muscle Cell Phenotype and the Pathogenesis of Cardiovascular and Cerebrovascular Aneurysms.

Aneurysms are localized dilations of blood vessels, which can expand to 50% of the original diameter. They are more common in cardiovascular and cerebrovascular vessels. Rupture is one of the most dangerous complications. The pathophysiology of aneurysms is complex and diverse, often associated with progressive vessel wall dysfunction resulting from vascular smooth muscle cell death and abnormal extracellular matrix synthesis and degradation. Multiple studies have shown that long noncoding RNAs (lncRNAs) play a significant role in the progression of cardiovascular and cerebrovascular diseases. Therefore, it is necessary to find and summarize them. LncRNAs control gene expression and disease progression by regulating target mRNA or miRNA and are biomarkers for the diagnosis and prognosis of aneurysmal cardiovascular and cerebrovascular diseases. This review explores the role, mechanism, and clinical value of lncRNAs in aneurysms, providing new insights for a deeper understanding of the pathogenesis of cardiovascular and cerebrovascular aneurysms.

Identification of diagnostic biomarkers of rheumatoid arthritis based on machine learning-assisted comprehensive bioinformatics and its correlation with immune cells

BackgroundRheumatoid arthritis (RA) is a chronic systemic autoimmune disease characterized by inflammatory cell infiltration, which can lead to chronic disability, joint destruction and loss of function. At present, the pathogenesis of RA is still unclear. The purpose of this study is to explore the potential biomarkers and immune molecular mechanisms of rheumatoid arthritis through machine learning-assisted bioinformatics analysis, in order to provide reference for the early diagnosis and treatment of RA disease. MethodsRA gene chips were screened from the public gene GEO database, and batch correction of different groups of RA gene chips was performed using Strawberry Perl. DEGs were obtained using the limma package of R software, and functional enrichment analysis such as gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), disease ontology (DO), and gene set (GSEA) were performed. Three machine learning methods, least absolute shrinkage and selection operator regression (LASSO), support vector machine recursive feature elimination (SVM-RFE) and random forest tree (Random Forest), were used to identify potential biomarkers of RA. The validation group data set was used to verify and further confirm its expression and diagnostic value. In addition, CIBERSORT algorithm was used to evaluate the infiltration of immune cells in RA and control samples, and the correlation between confirmed RA diagnostic biomarkers and immune cells was analyzed. ResultsThrough feature screening, 79 key DEGs were obtained, mainly involving virus response, Parkinson's pathway, dermatitis and cell junction components. A total of 29 hub genes were screened by LASSO regression, 34 hub genes were screened by SVM-RFE, and 39 hub genes were screened by Random Forest. Combined with the three algorithms, a total of 12 hub genes were obtained. Through the expression and diagnostic value verification in the validation group data set, 7 genes that can be used as diagnostic biomarkers for RA were preliminarily confirmed. At the same time, the correlation analysis of immune cells found that γδT cells, CD4+ memory activated T cells, activated dendritic cells and other immune cells were positively correlated with multiple RA diagnostic biomarkers, CD4+ naive T cells, regulatory T cells and other immune cells were negatively correlated with multiple RA diagnostic biomarkers. ConclusionsThe results of novel characteristic gene analysis of RA showed that KYNU, EVI2A, CD52, C1QB, BATF, AIM2 and NDC80 had good diagnostic and clinical value for the diagnosis of RA, and were closely related to immune cells. Therefore, these seven DEGs may become new diagnostic markers and immunotherapy markers for RA.

Effective diameter of the abdominal aorta in children.

Measure out of the standard interval in the aorta diameter is a clue for aortic aneurysm or hypoplasia. Pediatric studies focusing specifically on the normal diameter of the abdominal aorta (AA) were limited in the literature. Therefore, the main goal of this work was to determine changes in the effective diameter of AA in healthy children aged 1-18years for diagnosis of vascular diseases. This retrospective work focused on abdominopelvic computed tomography views of 180 children (sex: 90 males / 90 females, average age: 9.50 ± 5.20years) without any abdominopelvic disease to measure diameters of AA, common iliac artery (CIA), external iliac artery (EIA), and first lumbar vertebra (L1). Vessel and vertebra diameters increased in pediatric subjects between 1 and 18years (p < 0.001). Considering pediatric age periods, vessel diameters increased steadily, but L1 diameter showed an irregular growth pattern between age periods. All parameters were greater in males than females (p < 0.05), except from effective diameters of AA over the coeliac trunk (p = 0.084) and over the renal artery (p = 0.051). The ratios of diameters of vessels to L1 increased depending on ages between 1 and 18years. Considering pediatric age periods, the ratios increased from infancy period to postpubescent period in irregular pattern; however, the ratios for right and left CIA, and AA over the aortic bifurcation did not alter after late childhood period. All ratios for males were similar to females (p > 0.05). Our age-specific ratios may be beneficial for surgeons and radiologists for the diagnosis of vascular disorders such as aortic aneurysm.

Novel insights on microbiome dynamics during a gill disease outbreak in farmed rainbow trout (Oncorhynchus mykiss)

The generic term “Gill disease” refers to a wide range of disorders that affect the gills and severely impact salmonid aquaculture systems worldwide. In rainbow trout freshwater aquaculture, various etiological agents causing gill diseases have been described, particularly Flavobacterium and Amoeba species, but research studies suggest a more complex and multifactorial aetiology. Here, a cohort of rainbow trout affected by gill disease is monitored both through standard laboratory techniques and 16S rRNA Next-Generation Sequencing (NGS) analysis during a natural disease outbreak and subsequent antibiotic treatment with Oxytetracycline. NGS results show a clear clustering of the samples between pre- and post-treatment based on the microbial community of the gills. Interestingly, the three main pathogenic bacteria species in rainbow trout (Yersinia ruckeri, Flavobacterium psychrophilum, and Flavobacterium branchiophilum) appear to be weak descriptors of the diversity between pre-treatment and post-treatment groups. In this study, the dynamics of the gill microbiome during the outbreak and subsequent treatment are far more complex than previously reported in the literature, and environmental factors seem of the utmost importance in determining gill disease. These findings present a potential novel perspective on the diagnosis and management of gill diseases, showing the limitations of conventional laboratory methodologies in elucidating the complexity of this disease in rainbow trout. To the authors’ knowledge, this work is the first to describe the microbiome of rainbow trout gills during a natural outbreak and subsequent antibiotic treatment. The results of this study suggest that NGS can play a critical role in the analysis and comprehension of gill pathology. Using NGS in future research is highly recommended to gain deeper insights into such diseases correlating gill’s microbiome with other possible cofactors and establish strong prevention guidelines.

Integrating myocardial metabolic imaging and stress myocardial contrast echocardiography to improve the diagnosis of coronary microvascular diseases in rabbits

Integrating myocardial metabolic imaging and stress myocardial contrast echocardiography to improve the diagnosis of coronary microvascular diseases in rabbits

Role of optical coherence tomography angiography in retinal tumors: A narrative review.

Intraocular tumors constitute a small subset of cases in ophthalmologic practice. Proper diagnosis of intraocular tumors is crucial because some pose threat to vision and life, while others may indicate underlying systemic disorders. Intraocular tumors comprise benign and malignant lesions affecting the retina, choroid, optic disc, iris, and ciliary body. Retinal tumors can be classified as vascular, neural, glial, and retinal pigment epithelial tumors. Optical coherence tomography angiography (OCTA) is a noninvasive imaging modality employed in diagnosis and management of retinal and choroidal vascular diseases, and has enhanced our knowledge in better understanding of the vascular physiology and pathology. Multiple case reports and small series evaluating the role of OCTA in retinal tumors are published in literature. OCTA helps in better understanding of the vascularity of intraocular tumors. In addition to this, OCTA has its role in clinical practice. It helps in identification of small retinal capillary hemangioblastoma (RCH), assessment of treatment response, and identification of tumor recurrence in RCH. It aids in identification of retinal astrocytic hamartoma missed on clinical examination and differentiating retinal astrocytic hamartoma and presumed solitary circumscribed retinal astrocytic proliferation. It helps in assessment of risk of tumor recurrence in retinoblastoma. It helps in differentiating tumors of retinal pigment epithelium (RPE) origin from pigmented tumors of the choroid. It also helps in detection of choroidal neovascular membrane in combined hamartoma of the retina and RPE.

Noninvasive Prenatal Genetic Screening of Cell-Free Fetal DNA for Early Prediction of β-Thalassemia Using Fiber Optic Nanogold-Linked Sorbent Assay.

β-Thalassemia is a prevalent type of severe inherited chronic anemia, primarily identified in developing countries. The identification of single nucleotide polymorphisms (SNPs) plays a vital role in the early diagnosis of genetic diseases. Here, we reported the development of an amplification-free fiber optic nanogold-linked sorbent assay method using a fiber optic particle plasmon resonance (FOPPR) biosensor for rapid and ultrasensitive detection of SNPs. Herein, MutS protein was selected as the biorecognition capture probe and immobilized on the sensing region to capture the target mutant DNA, which was hybridized with a single-base mismatched single-stranded DNA labeled by a gold nanoparticle (AuNP). The AuNP acts as a signaling agent to be detected by the FOPPR biosensor when it is bound on the fiber core surface. The method effectively differentiates mismatched double-stranded DNA by MutS protein from perfectly matched/complementary dsDNA. It exhibits an impressively low detection limit for the detection of SNPs at approximately 10-16 M using low-cost sensor chips and devices. By determination of the ratio of mutant DNA to normal DNA in cell-free genomic DNA from blood samples, this method is promising for diagnosing β-thalassemia in fetuses without invasive testing techniques.

Cost-effectiveness and safety of mediastinal transbronchial cryobiopsy guided by endobronchial ultrasonography (CRYO-EBUS) in 110 cases

IntroductionTransbronchial needle aspiration guided by endobronchial ultrasonography (EBUSTBNA) has the disadvantage of sometimes offering samples of an unsuitable size for an accurate histo-molecular diagnosis. Transbronchial mediastinal cryobiopsy (CRYOEBUS) is a very novel and additional technique to EBUS-TBNA that allows us to obtain larger and quality samples, improving diagnostic performance. Material and methodsDescriptive study of 110 patients with lesions and/or mediastinal lymphadenopathy who underwent EBUS-TBNA and CRYO-EBUS in a single procedure. Our objective was to analyze the diagnostic profitability and safety of the technique. ResultsCRYO-EBUS obtained samples of 0.42 cm on average compared to 0.14 cm obtained by EBUS-TBNA. The overall diagnostic performance of the techniques was 60% for EBUS-TBNA and 94.5% for CRYO-EBUS. Furthermore, the latter was more sensitive for the diagnosis of both malignant and benign diseases. With a very high security profile. ConclusionsThe CRYO-EBUS technique is cost-effective and safe, and is superior to EBUS-TBNA. Future studies may confirm our findings.