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Noninvasive diagnosis of human diseases relies on the detection of molecular markers (probes) in a painless manner. Although extrinsic and intrinsic molecular markers are often used, intrinsic disease probes (molecular markers) are preferable because they are naturally present in our body, and deviation in their concentration from normal levels clearly indicates anomalies in human bodies, that is, diseases. In this study, we report noninvasive spectroscopic measurements of total haemoglobin (Hb), bilirubin, and the ratio of oxy- and deoxyhaemoglobin as disease markers for anaemia, jaundice, and oxygen deficiency, respectively, using a meticulously designed optical fibre probe. The challenges in designing the fibre probe for simultaneous noninvasive detection, including optical power, spectral density of the probing light, and resolution of the spectrometer, were found to be critical to accurate measurements. Finally, a fibre-less, highly portable, and low-cost prototype was developed and tested in human clinical trials for the diagnosis of diseases, and these results were compared with conventional techniques (blood tests). [ABSTRACT FROM AUTHOR]

This study aims to construct and validate noninvasive diagnosis models for evaluating significant liver fibrosis in patients with chronic hepatitis B (CHB). A cohort of 259 CHB patients were selected as research subjects. Through random grouping, 182 cases were included in the training set and 77 cases in the validation set. The nomogram was developed based on univariate analysis and multivariate regression analysis. Various machine learning models were employed to construct prediction models for significant liver fibrosis. The area under the ROC curve (AUC), sensitivity, specificity, NPV, PPV, and F1 score were used to evaluate the diagnostic performance. The new nomogram had excellent diagnostic efficiency (AUC 0.806, 95% CI: 0.740–0.872). Compared with other traditional noninvasive diagnostic models, the nomogram demonstrated higher AUC values and better prediction performance. Among six machine learning models, the random forest (RF) model achieved the highest AUC (AUC 0.819, 95% CI: 0.720–0.906). Finally, the importance of all variables in the RF model was ordered to illustrate the contribution of different variables, providing the clinical factors associated with the risk of significant liver fibrosis. This new nomogram may more reliably than other traditional models and the RF model demonstrated superior accuracy among six machine learning models. [ABSTRACT FROM AUTHOR]

Context Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was introduced as a new entity replacing the diagnosis of noninvasive encapsulated follicular variant of papillary thyroid carcinoma (PTC). Significant variability in the incidence of NIFTP diagnosed in different world regions has been reported. Objective To investigate the rate of adoption of NIFTP, change in practice patterns, and uniformity in applying diagnostic criteria among pathologists practicing in different regions. Methods Two surveys distributed to pathologists of the International Endocrine Pathology Discussion Group with multiple-choice questions on NIFTP adoption into pathology practice and whole slide images of 5 tumors to collect information on nuclear score and diagnosis. Forty-eight endocrine pathologists, including 24 from North America, 8 from Europe, and 16 from Asia/Oceania completed the first survey and 38 the second survey. Results A 94% adoption rate of NIFTP by the pathologists was found. Yet, the frequency of rendering NIFTP diagnosis was significantly higher in North America than in other regions (P =.009). While the highest concordance was found in diagnosing lesions with mildly or well-developed PTC-like nuclei, there was significant variability in nuclear scoring and diagnosing NIFTP for tumors with moderate nuclear changes (nuclear score 2) (case 2, P <.05). Pathologists practicing in North America and Europe showed a tendency for lower thresholds for PTC-like nuclei and NIFTP than those practicing in Asia/Oceania. Conclusion Despite a high adoption rate of NIFTP across geographic regions, NIFTP is diagnosed more often by pathologists in North America. Significant differences remain in diagnosing intermediate PTC-like nuclei and respectively NIFTP, with more conservative nuclear scoring in Asia/Oceania, which may explain the geographic differences in NIFTP incidence. [ABSTRACT FROM AUTHOR]

The latest developments combining deep learning technology and medical image data have attracted wide attention and provide efficient noninvasive methods for the early diagnosis of breast cancer. The success of this task often depends on a large amount of data annotated by medical experts, which is time-consuming and may not always be feasible in the biomedical field. The lack of interpretability has greatly hindered the application of deep learning in the medical field. Currently, deep stable learning, including causal inference, make deep learning models more predictive and interpretable. In this study, to distinguish malignant tumors in Breast Imaging-Reporting and Data System (BI-RADS) category 3–4A breast lesions, we propose BD-StableNet, a deep stable learning model for the automatic detection of lesion areas. In this retrospective study, we collected 3103 breast ultrasound images (1418 benign and 1685 malignant lesions) from 493 patients (361 benign and 132 malignant lesion patients) for model training and testing. Compared with other mainstream deep learning models, BD-StableNet has better prediction performance (accuracy = 0.952, area under the curve = 0.982, precision = 0.970, recall = 0.941, F 1-score = 0.955 and specificity = 0.965). The lesion area prediction and class activation map results both verify that our proposed model is highly interpretable. The results indicate that BD-StableNet significantly enhances diagnostic accuracy and interpretability, offering a promising noninvasive approach for the diagnosis of BI-RADS category 3–4A breast lesions. Clinically, the use of BD-StableNet could reduce unnecessary biopsies, improve diagnostic efficiency, and ultimately enhance patient outcomes by providing more precise and reliable assessments of breast lesions. [ABSTRACT FROM AUTHOR]

We report the noninvasive imaging diagnosis of a massive right atrial lipoma in a young male patient. Echocardiography and myocardial contrast echocardiography were used to assess echo intensity, tumor size, anatomic boundary, hemodynamics, and contrast agent perfusion. Dual-source CT revealed that the CT value of the tumor was fat density. Cardiac MRI showed high signals of T1 and T2 weighted images, while the low signals of fat saturation sequences. Finally, the tumor was surgically resected and the diagnosis of right atrial lipoma was confirmed by pathological section. Our study indicates that multimodal imaging may facilitate a potential pathological diagnosis before biopsy and can help plan further treatment. [ABSTRACT FROM AUTHOR]

Wearable wireless gas sensors have attracted enormous interest due to precise, real‐time healthcare and environmental monitoring without temporal and spatial limitations. Among various toxic gases, detecting ammonia is crucial because of its highly hazardous nature and applicability as a noninvasive biomarker for diagnosing health conditions. In this study, silver nanowires‐decorated silicon nanomembrane (AgNW‐SiNM) chemiresistive gas sensor with high selectivity to ammonia is fully integrated with an ultrathin flexible Joule heater and wireless communication system to fabricate wearable wireless real‐time toxic gas monitoring system. The sensor exhibits improved performance to ammonia gas, attributed to heating‐induced changes in adsorption/desorption rates, along with electronic and chemical sensitization facilitated by AgNW decoration. The gas sensing system exhibits stable and high responses of ≈1.83, 1.47, and 1.19 on the ammonia exposure at concentrations of 10, 5, and 1 ppm even under mechanical deformations. The real‐time dynamic response of the sensor is wirelessly transmitted to portable electronics and displayed on the screen. Moreover, the system alerts the users in advance through the integrated haptic interface when exposed to dangerous gas environments for early evacuation. The system paves the way for timely warnings from hazardous gas and more accurate noninvasive medical diagnosis related to respiratory disorders. [ABSTRACT FROM AUTHOR]

Dog have been trained to detect a variety of human cancers. However, studies examining their ability to find canine cancer are sparse and show variable results. Whilst dogs were shown to be successful at detecting malignant tumors from saliva samples, they were previously unsuccessful at finding canine urothelial carcinoma (UC) from urine. We used advanced training methods to explore if dogs can accurately detect urothelial carcinoma (UC) from canine urine. Urine samples from healthy dogs without urinary tract abnormalities (control), with non-malignant urinary tract disease (control), and with UC (positive) were collected prospectively. Urothelial carcinoma was diagnosed using cytology and/or histopathology. All dogs were naïve of chemotherapy, underwent bladder ultrasound and urinalysis. Residual urine remaining after conventional diagnostic procedures was frozen in glass jars until analysis and used for dog training and testing. Three dogs previously trained to detect human cancer underwent up to 29 days of additional training. They were each presented with 20 control samples (from either 13 or 14 unique individuals), 10 UC positive samples (from between 5 and 7 individuals), in a double-blind trial and their behavioral responses recorded. When considering only unique donor dogs, a mean of 66.7% (range 40–85.7%) of UC were correctly indicated and a mean of 87.5% (range 78.6–92.3%) were correctly ignored. The overall sensitivity (considering all samples) was 80% (range 70–90%), and specificity was 91.7% (range 85–95%). This study suggests that, when using appropriate methods, dogs can be trained to detect canine UC from urine and could serve as an additional non-invasive diagnostic test for the disease. [ABSTRACT FROM AUTHOR]

The human microbiome plays a pivotal role in influencing various physiological processes and maintaining overall well-being, including the gastric system. Current diagnostic tests for gastric diseases often involve invasive procedures, sampling limitations, and medication effects, leading to potential diagnostic errors and discomfort to patients. Considering the connection between oral and gastric microbiomes, this cross-sectional study aimed to assess the diagnostic potential of the oral bacterial profile in patients undergoing upper digestive endoscopy. Oral samples from 266 participants across two Brazilian sites (Belterra and Sao Paulo) were sequenced and subjected to bioinformatic analysis to identify microbiome composition across endoscopy outcome groups, exploring alpha and beta-diversity, richness, and differential abundance and prevalence. Prevotella, Haemophilus, Fusobacterium, Neisseria, and Streptococcus were the most abundant genera observed. No significant associations were found between alpha diversity profiles and endoscopy outcomes; beta diversity analyses similarly showed no correlations. Overall, the study did not establish the oral microbiome as a reliable marker for gastric health, underscoring the necessity for broader studies in the development of non-invasive diagnostic tests. [ABSTRACT FROM AUTHOR]

Arterial compliance (AC) is an important cardiovascular parameter characterizing mechanical properties of arteries. AC is significantly influenced by arterial wall structure and vasomotion, and it markedly influences cardiac load. A new method, based on a two-element Windkessel model, has been recently proposed for estimating AC as the ratio of the time constant t of the diastolic blood pressure decay and peripheral vascular resistance derived from clinically available stroke volume measurements and selected peripheral blood pressure parameters which are less prone to peripheral distortions. The aim of this study was to validate AC estimation using a virtual population generated by in silico model of the systemic arterial tree. In the second part of study, we analysed causal coupling between AC oscillations and variability of its potential determinants - systolic blood pressure and heart rate in healthy young human subjects. The pool of virtual subjects (n=3818) represented an extensive AC distribution. AC was estimated from the peripheral blood pressure curve and by the standard method from the aortic blood pressure curve. The proposed method slightly overestimated AC set in the model but both ACs were strongly correlated (r=0.94, p<0.001). In real data, we observed that AC dynamics was coupled with basic cardiovascular parameters variability independently of the autonomic nervous system state. In silico analysis suggests that AC can be reliably estimated by noninvasive method. The analysis of short-term AC variability together with its determinants could improve our understanding of factors involved in AC dynamics potentially improving assessment of AC changes associated with atherosclerosis process. [ABSTRACT FROM AUTHOR]

Bladder cancer (BC) currently ranks as the 9th most common cancer worldwide. It is characterised by very high rates of recurrence and metastasis. Most cases of BC are of urothelial origin, and due to its ability to penetrate muscle tissue, BC is divided into non-muscle-invasive BC (NMIBC) and muscle-invasive BC (MIBC). The current diagnosis of BC is still based primarily on invasive cystoscopy, which is an expensive and invasive method that carries a risk of various complications. Urine sediment cytology is often used as a complementary test, the biggest drawback of which is its very low sensitivity concerning the detection of BC at early stages, which is crucial for prompt implementation of appropriate treatment. Therefore, there is a great need to develop innovative diagnostic techniques that would enable early detection and accurate prognosis of BC. Great potential in this regard is shown by epigenetic changes, which are often possible to observe long before the onset of clinical symptoms of the disease. In addition, these changes can be detected in readily available biological material, such as urine or blood, indicating the possibility of constructing non-invasive diagnostic tests. Over the past few years, many studies have emerged using epigenetic alterations as novel diagnostic and prognostic biomarkers of BC. This review provides an update on promising diagnostic biomarkers for the detection and prognosis of BC based on epigenetic changes such as DNA methylation and expression levels of selected non-coding RNAs (ncRNAs), taking into account the latest literature data. [ABSTRACT FROM AUTHOR]

Simple Summary: Pseudomonas plecoglossicida infection, which causes visceral white spot disease, is a significant and economically devastating disease in aquaculture. In this study, we investigated the impact of bacterial infection on the protein composition of exosomes derived from the surface mucus of the hybrid grouper Epinephelus fuscoguttatus♀ × E. lanceolatus♂, and studied the host response to P. plecoglossicida infection and potential noninvasive biomarkers for the diagnosis of visceral white spot disease. Pseudomonas plecoglossicida infection, which causes visceral white spot disease, is a significant and economically devastating disease in aquaculture. In this study, we investigated the impact of bacterial infection on the protein composition of exosomes derived from the surface mucus of the hybrid grouper Epinephelus fuscoguttatus♀ × E. lanceolatus♂. Two hundred healthy fish were randomly separated into challenge and control groups. Fish from the challenge group received 103 CFU/g of the bacterial pathogen P. plecoglossicida via intraperitoneal injection, while sterile PBS was used as a negative control. After injection, the mucus was collected and the exosomes were extracted for proteomic analysis. The results of proteomic analysis revealed that P. plecoglossicida infection significantly increased the levels of innate immune proteins, including lysosomal and peroxisomal proteins, within the exosomes. Furthermore, the CAD protein was found to play a pivotal role in the protein interaction networks involved in the response to P. plecoglossicida infection. Intriguingly, we also observed a significant increase in the levels of metal-binding proteins within the exosomes, providing important evidence of nutritional immunity on the surfaces of the fish hosts. Notably, several proteins, such as plasma kallikrein, Annexin A5, eukaryotic translation initiation factor 3 subunit M, and S-methyl-5-thioadenosine phosphorylase, exhibited a remarkable increase in abundance in exosomes after infection. These proteins show promising potential as noninvasive biomarkers for the diagnosis of visceral white spot disease. The study contributes to the understanding of the host response to P. plecoglossicida infection and may aid policymakers in implementing appropriate intervention measures for effective risk management of this devastating disease. [ABSTRACT FROM AUTHOR]

The mechanism involved in the pathogenesis of endometriosis is poorly understood. The purpose of this study is to identify key deubiquitinating enzymes (DUBs) for endometriosis diagnosis and elucidate the possible mechanism, offering novel insights for noninvasive early diagnosis and treatment. Four gene expression datasets were employed from the Gene Expression Omnibus to identify differentially expressed genes (DEGs) between endometriosis and normal controls. GO and KEGG pathways were performed for enrichment analysis. Calibration curves, ROC, DCA, and clinical impact curves verified the clinical usefulness of the nomogram model. In addition, the ssGSEA method was conducted to estimate 23 types of immune cells. A specific DUB gene signature was constructed with Lasso regression, univariate logistic regression, and SVM analysis. RT-qPCR validated the expression of biomarkers. A total of 85 endometriosis-related DUBs were identified in the eutopic endometrium. Among them, 20 DUBs were found to be correlated with the severity of endometriosis. A diagnostic risk model based on five DUB-related genes (USP21, USP48, ZRANB1, COPS5, and EIF3F) was developed using lasso-cox regression analysis. The nomogram model exhibited a strong predictive ability to diagnose endometriosis. KEGG analysis revealed that ubiquitin-mediated proteolysis was activated in patients suffering from severe symptoms. Analysis of immune cell infiltration revealed a positive correlation between USP21 and multiple immune cells in the eutopic endometrium. However, EIF3F showed an opposite relationship. Dysregulation of DUBs was related to the immune microenvironment in endometriosis. Results from RT-qPCR confirmed the expression of DEGs in clinical samples. In summary, the diagnostic model for endometriosis constructed using five differentially expressed DUB genes demonstrates strong diagnostic capability, suggesting that these genes could serve as potential candidate biomarkers and therapeutic targets. [ABSTRACT FROM AUTHOR]

To investigate the potential clinical value of urinary exosomal (uE) miR-451a as a biomarker for IgAN, urinary exosomes were isolated from 40 patients with IgAN, 30 patients with primary renal diseases without IgA as disease controls (non-IgAN group) and 21 healthy controls (HCs). The expression of miR-451a within exosomes was examined by reverse transcription-quantitative polymerase chain reaction (RT-qPCR). uE miR-451a was significantly upregulated in patients with IgAN compared to non-IgAN and HCs. The uE miR-451a level was positively correlated with the change in eGFR and negatively correlated with serum creatinine, urinary macrophage migration inhibitory factor (MIF), interleukin-6 (IL-6) and tumor necrosis factor (TNF-α). A dual-luciferase reporter assay confirmed that MIF was a direct target of miR-451a. Receiver operating characteristic (ROC) curve analysis revealed that the expression of uE miR-451a showed potential diagnostic value for IgAN. Additionally, the uE miR-451a level could distinguish patients with IgAN with mild tubular atrophy/interstitial fibrosis from those with severe tubular atrophy/interstitial fibrosis. After a mean follow-up of 14.2 months, the levels of eGFR loss (ml/min/1.73 m2/year) were negatively correlated with baseline miR-451a. The levels of baseline miR-451a in the complete remission group were significantly higher than those in the non-complete remission group. uE miR-451a expression was significantly elevated in patients with IgA nephropathy and may serve as a potential biomarker for the diagnosis of IgAN and evaluation of tubulointerstitial damage, while the baseline levels of uE miR-451a may be predictors of therapeutic efficacy and disease progression. [ABSTRACT FROM AUTHOR]

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Background: Current diagnostic methods cannot effectively distinguish between latent tuberculosis infection (LTBI) and active tuberculosis (ATB). This study aims to explore novel non-invasive diagnostic biomarkers for LTBI and to elucidate possible molecular mechanisms of LTBI pathogenesis. Methods: Three GEO datasets (GSE19439, GSE19444, and GSE62525) were utilized to analyze the differentially expressed genes (DEGs). Functional enrichment studies were then performed on these DEGs. To ascertain potential diagnostic biomarkers, we utilized two different machine learning techniques: LASSO and RF. ROC curves were constructed in both the training and validation datasets to assess the diagnostic efficacy. The expression of identified biomarkers was verified by RT-qPCR in our own Chinese cohort. Using CIBERSORT, we estimated the abundances of 22 immune cell types in LTBI group, and subsequently analyzed the relationship between biomarker expression and immune cell infiltration. Results: 166 DEGs were identified between ATB and LTBI groups, which are primarily associated with immune responses, inflammatory signaling pathways, and infection factors. Following that, 22 candidate diagnostic biomarkers for LTBI were selected in the machine learning process. Three up-regulated genes, MORN3, LLGL2, and IFT140, whose expression levels were not previously reported in TB, were validated using the training and validation cohort datasets. In our own Chinese cohort, we also found that MORN3 and LLGL2 showed good diagnostic effect using RT-qPCR method. Finally, we revealed the specific infiltration features of immune cells in LTBI and observed a notable correlation between potential marker expression and immune cells. Conclusions: MORN3 and LLGL2 emerged as candidate diagnostic biomarkers for LTBI, following the elucidation of the key immune cell types involved. Our findings will contribute to providing a potential target for early noninvasive diagnosis of LTBI patients. [ABSTRACT FROM AUTHOR]

Lung cancer is currently the leading cause of cancer-related deaths, and early diagnosis and screening can significantly reduce its mortality rate. Since some early-stage lung cancers lack obvious clinical symptoms and only present as pulmonary nodules (PNs) in imaging examinations, accurately determining the benign or malignant nature of PNs is crucial for improving patient survival rates. 18F-FDG PET/CT is important in diagnosing PNs, but its specificity needs improvement. Radiomics can provide information beyond traditional visual assessment, overcoming its limitations by extracting high-throughput quantitative features from medical images. Radiomics features based on 18F-FDG PET/CT and deep learning methods have shown great potential in the noninvasive diagnosis of PNs. This paper reviews the latest advancements in these methods and discusses their contributions to improving diagnostic accuracy and the challenges they face. [ABSTRACT FROM AUTHOR]

Background: Bowel endometriosis is one of the more severe manifestations of deep endometriosis; it may cause pain and intestinal symptoms. The noninvasive diagnosis of bowel endometriosis is of crucial importance in planning the management of patients affected by this condition. Objectives: This review aims to describe how transvaginal ultrasonography (TVS) is performed in patients with suspicion of rectosigmoid endometriosis, the diagnostic performance, and the strengths and limitations of this technique. Methods: To identify relevant literature, a literature search was performed across the PubMed and Google Scholar databases up to July 2024. Outcome: Numerous meta-analyses have demonstrated that TVS has high diagnostic accuracy in diagnosing rectosigmoid endometriosis. Rectosigmoid nodules can present with different morphological characteristics, but they are typically described as irregular, hypoechoic nodules located in the anterior wall of the rectosigmoid colon. The presence of “soft markers,” such as a negative sliding sign and kissing ovaries, can further reinforce the diagnosis of this condition. Posterolateral parametrial involvement often coexists with large rectal nodules. Introducing water contrast into the rectosigmoid does not improve the performance of TVS in diagnosing rectosigmoid endometriosis. Conclusions and Outlook: TVS should be the first-line investigation in women suspected of having rectosigmoid endometriosis. The widespread use of TVS for the diagnosis of intestinal endometriosis can reduce diagnostic delays and facilitate the treatment of patients affected by this condition. [ABSTRACT FROM AUTHOR]

Endometriosis has a wide range of clinical manifestations, and the disease course is unpredictable, making the diagnosis a challenging task. Despite significant advances in the pathophysiology of endometriosis and various proposed theories, the exact etiology is not fully understood and is still unknown. The most commonly used biomarker of endometriosis is CA-125, however, it is nonspecific and is applied for cancers diagnosis. Therefore, the development of reliable noninvasive diagnostic tests for the early diagnosis of endometriosis remains one of the top priorities. Omics technologies are very promising approaches for constructing diagnostic models and biomarker discovery. Their use can greatly facilitate the study of such a complex disease as endometriosis. Nowadays, powerful analytical platforms commonly used in omics, such as gas and liquid chromatography with mass spectrometry and nuclear magnetic resonance (NMR) spectroscopy, have proven to be a promising tools for biomarker discovery. The aim of this review is to summarize the various features of the analytical approaches, practical challenges and features of gas and liquid chromatography with MS and NMR spectroscopy (including sample processing protocols, technological advancements, and methodology) used for profiling of metabolites, lipids, peptides and proteins in physiological fluids and tissues from patients with endometriosis. In addition, this report devotes special attention to the issue of how comprehensive analyses of these profiles can effectively contribute to the study of endometriosis. The search query included reports published between 2012 and 2022 years in PubMed, Web-of-Science, SCOPUS, Science Direct. [ABSTRACT FROM AUTHOR]

Non-invasive tests (NITs) for liver fibrosis have been recognized for their clinical utility in metabolic dysfunction-associated steatotic liver disease (MASLD). However, their diagnostic efficacy in detecting liver fibrosis is notably reduced in patients with alcohol-related liver disease. Therefore, ascertaining the reliability of NITs in patients with MASLD with moderate alcohol intake (MetALD) is essential. In this cross-sectional study, we reviewed data from 7,918 health check-up participants who underwent both magnetic resonance elastography (MRE) and ultrasound for the diagnosis of hepatic steatosis. The participants were categorized into MASLD and MetALD groups, and the performance of fibrosis-4 index (FIB-4) and NAFLD fibrosis score (NFS) were assessed. Advanced hepatic fibrosis (F3) was defined as MRE ≥3.6 kPa. The prevalence of MetALD was 5.8% in this health check-up cohort, and 1.5% of these patients exhibited advanced hepatic fibrosis. Both MetALD and MASLD displayed similar metabolic profiles and hepatic fibrosis burdens. The diagnostic performance of FIB-4 and NFS for MRE ≥3.6 kPa showed no noticeable differences in the area under the receiver-operating characteristic values between the two groups (0.85 vs. 0.80 in FIB-4). Moreover, the sensitivity (71.4%), specificity (77.3%), and both positive (4.6%) and negative (99.4%) predictive values of NITs for MetALD closely mirrored those observed for MASLD. FIB-4 performed well for the initial screening of advanced hepatic fibrosis in MetALD, demonstrating reasonable sensitivity and negative predictive values. In this cross-sectional study, data from 7,918 participants who underwent MRE were analyzed to assess the performance of fibrosis-4 (FIB-4) and non-alcoholic fatty liver disease fibrosis scores in metabolic dysfunction-associated steatotic liver disease (MASLD) and MASLD with moderate alcohol intake (MetALD). We found that FIB-4 had high diagnostic accuracy in the newly identified MetALD group, similar to that in the MASLD population. These results highlight the potential of FIB-4 as a reliable screening tool for MetALD, even when specific subgroups are considered. Therefore, FIB-4 is a valuable screening tool for identifying advanced fibrosis in the MetALD population. [Display omitted] • The effectiveness of NITs for detecting liver fibrosis in patients with MetALD is not well established. • In a study of 7,918 participants undergoing MRE, FIB-4 achieved an AUROC of 0.85 for detecting advanced fibrosis (MRE ≥3.6 kPa). • Sensitivity (71.4%), specificity (77.3%), and both positive (4.6%) and negative (99.4%) predictive values of FIB-4 were similar for MetALD as for MASLD. • FIB-4 is established as a valuable screening tool for identifying advanced fibrosis in the MetALD population. [ABSTRACT FROM AUTHOR]

Purpose: Quantitative T1 mapping has the potential to replace biopsy for noninvasive diagnosis and quantitative staging of chronic liver disease. Conventional T1 mapping methods are confounded by fat and B1+$$ {B}_1^{+} $$ inhomogeneities, resulting in unreliable T1 estimations. Furthermore, these methods trade off spatial resolution and volumetric coverage for shorter acquisitions with only a few images obtained within a breath‐hold. This work proposes a novel, volumetric (3D), free‐breathing T1 mapping method to account for multiple confounding factors in a single acquisition. Theory and Methods: Free‐breathing, confounder‐corrected T1 mapping was achieved through the combination of non‐Cartesian imaging, magnetization preparation, chemical shift encoding, and a variable flip angle acquisition. A subspace‐constrained, locally low‐rank image reconstruction algorithm was employed for image reconstruction. The accuracy of the proposed method was evaluated through numerical simulations and phantom experiments with a T1/proton density fat fraction phantom at 3.0 T. Further, the feasibility of the proposed method was investigated through contrast‐enhanced imaging in healthy volunteers, also at 3.0 T. Results: The method showed excellent agreement with reference measurements in phantoms across a wide range of T1 values (200 to 1000 ms, slope = 0.998 (95% confidence interval (CI) [0.963 to 1.035]), intercept = 27.1 ms (95% CI [0.4 54.6]), r2 = 0.996), and a high level of repeatability. In vivo imaging studies demonstrated moderate agreement (slope = 1.099 (95% CI [1.067 to 1.132]), intercept = −96.3 ms (95% CI [−82.1 to −110.5]), r2 = 0.981) compared to saturation recovery‐based T1 maps. Conclusion: The proposed method produces whole‐liver, confounder‐corrected T1 maps through simultaneous estimation of T1, proton density fat fraction, and B1+$$ {B}_1^{+} $$ in a single, free‐breathing acquisition and has excellent agreement with reference measurements in phantoms. [ABSTRACT FROM AUTHOR]

Background: There were about 1,090,000 gastric cancer (GC) cases in 2020 in China. The incidence and mortality rates ranked the fifth and third among all kinds of cancers in China. Early diagnosis plays an important role in the treatment and prognosis of gastric cancer. In recent years, noninvasive diagnosis, especially plasma exosome lncRNAs, has become a promissing biomarkers with high specificity and sensitivity for early diagnosis of cancers. Methods: In this study, plasma exosomes of patients with early gastric cancer were extracted efficiently by affinity membrane separation technology, including affinity adsorption, elution, affinity membrane regeneration and other steps. After identified by electron microscopy observation, particle size analysis and Western blot verification, the lncRNAs in the exosomes were extracted and were analysized by high-throughput RNA sequencing (RNA-Seq). The differentially expressed lncRNAs were verified by RT-qPCR in 93 patients with early gastric cancer and 49 normal controls. Results: Electron microscopy, particle size analysis and Western blot showed that exosomes were successfully isolated from plasma. RNA-Seq results show that 76 lncRNAs were upregulated and 260 lncRNAs were downregulated in plasma exosomes of early gastric cancer patients compared with normal controls. RTqPCR analysis indicated that a total of 6 lncRNAs were significantly and differentially expressed in gastric cancer patients compared to normal controls, with 2 (lncmstrg. 1319590, Lncmstrg. 2312697) highly expressed and 4 lowly expressed (lncmstr-g.1004024.1, lncmstrg. 2441832.8, lncmstrg. 315376.1, lncmstrg.907985.2,) (p < 0.05). The survival curve analysis indicated that lncmstrg.2441832.8 and lncmstrg.2312697 had higher sensitivity and specificity for the diagnosis of gastric cancer, respectively and AUC curve areas were 0.6211 and 0.631, p < 0.05, respectively, which were greater than the traditional clinical detection indexes CEA (0.61) and AFP (0.57). When combined lncmstrg.2441832.8 and lncmstrg.2312697 in gastric cancer diagnosis, AUC curve area reached 0.73, which was greater than CA199 (0.71). Conclusion: Lncmstrg.2441832.8 and lncmstrg.2312697 may be a potential and promissing biomarkers for early diagnosis of gastric cancer. [ABSTRACT FROM AUTHOR]

Background: For early detection and postoperative monitoring of upper tract urothelial carcinoma (UTUC), the traditional detection method was limited to its invasiveness and insufficient sensitivity. We aim to use urine tumour DNA (utDNA) for detecting minimal residual disease (MRD), early diagnosis and perioperative monitoring in UTUC. Method: We previously established a utDNA multidimensional bioinformatic valuation model, named utLIFE, using low‐coverage whole‐genome sequencing and targeted deep sequencing. This prospective cohort enrolled 93 patients diagnosed with UTUC without metastasis. We collected morning urine samples on the day of surgery and the discharge day after the operation for utLIFE testing. In addition, we also enrolled 80 healthy controls to further validate the specificity of the utLIFE model in the study. Results: The utLIFE of preoperative samples could discriminate UTUC with high specificity (96.25%, 77/80), and high sensitivity (96.77%, 90/93) regardless of stage and grade. The sensitivity of utLIFE was significantly higher than urine cytology (p < 0.001) and fluorescence in situ hybridisation (FISH) (p < 0.001) (N = 19), especially in early‐stage and low‐grade UTUC. Postoperative utLIFE scores were significantly decreased compared with those of preoperative samples (79 vs. 36, p < 0.001), indicating its association with tumour burden. For special pathology types, utLIFE performed less well in sensitivity and perioperative alteration. Conclusion: In conclusion, we established a bioinformatic utDNA valuation model, utLIFE, which was validated to be a rapid and noninvasive approach with high sensitivity for early detection and MRD monitoring for UTUC. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusions Fibro‐Scope is an artificial intelligence/neural network system for the noninvasive diagnosis of hepatic fibrosis in patients with metabolic dysfunction‐associated steatotic liver disease. We aimed to examine the diagnostic performance of a two‐step method that used the Fibrosis‐4 (FIB‐4) index and Fibro‐Scope system for the assessment of Japanese patients with metabolic dysfunction‐associated steatotic liver disease.We analyzed a longitudinal study cohort of 796 Japanese patients with biopsy‐proven metabolic dysfunction‐associated steatotic liver disease during a follow‐up period of 6.4 years. The predictive performance of the two‐step method of FIB‐4 index and Fibro‐Scope for liver‐related events and prognostic performance of that were assessed in the patients.In the 796 patients, by classifying the intermediate zone, defined by FIB‐4 index 1.30–2.67, using the Fibro‐Scope, the final classification was 69.6% low risk, 28.3% high risk, and 2.1% in the middle‐risk group. The sensitivity and specificity for predicting advanced fibrosis (≥F3) was 84.0% and 84.0%. During the follow‐up period, 52 (6.5%) patients developed liver‐related events and 35 died. Multivariate analysis revealed that high‐risk patients derived from the two‐step method had hazard ratios of 30.1 or the development of liver‐related events and 7.8 for outcome.The two‐step method using the FIB‐4 index and Fibro‐Scope contributed to improving the diagnostic performance by picking up high‐risk patients from those classified as intermediate risk with the FIB‐4 index. This noninvasive method, which uses a blood sample is a cost‐effective screening method, is suitable for clinical practice in Japan. [ABSTRACT FROM AUTHOR]

The document is a contents list for the journal "Analyst" published by the Royal Society of Chemistry. It includes a range of articles and papers on various topics related to chemistry and scientific research. Some of the topics covered include the selection of aptamers against SARS-CoV-2, insights into lipid and fatty acid metabolism, and non-invasive diagnostic tests for lung cancer. The journal also offers information on training courses and events for professional development in the field of chemistry. [Extracted from the article]

Lung cancer is one of the most commonly occurring malignant tumours worldwide. Although some reference methods such as X-ray, computed tomography or bronchoscope are widely used for clinical diagnosis of lung cancer, there is still a need to develop new methods for early detection of lung cancer. Especially needed are approaches that might be non-invasive and fast with high analytical precision and statistically reliable. Herein, we developed a swab "dip" test in saliva whereby swabs were analysed using attenuated total reflection Fourier-transform infrared (ATR-FTIR) spectroscopy harnessed to principal component analysis–quadratic discriminant analysis (QDA) and variable selection techniques employing successive projections algorithm (SPA) and genetic algorithm (GA) for feature selection/extraction combined with QDA. A total of 1944 saliva samples (56 designated as lung-cancer positive and 1888 designed as controls) were obtained in a lung cancer-screening programme being undertaken in North-West England. GA-QDA models achieved, for the test set, sensitivity and specificity values of 100.0% and 99.1%, respectively. Three wavenumbers (1422 cm−1, 1546 cm−1 and 1578 cm−1) were identified using the GA-QDA model to distinguish between lung cancer and controls, including ring C–C stretching, C＝N adenine, Amide II [δ(NH), ν(CN)] and νs(COO−) (polysaccharides, pectin). These findings highlight the potential of using biospectroscopy associated with multivariate classification algorithms to discriminate between benign saliva samples and those with underlying lung cancer. [ABSTRACT FROM AUTHOR]

Aims Methods Results Conclusions The multisociety consensus nomenclature has introduced steatotic liver disease (SLD) with diverse subclassifications, which are metabolic dysfunction‐associated steatotic liver disease (MASLD), metabolic dysfunction and alcohol‐associated steatotic liver disease (MetALD), alcohol‐associated liver disease (ALD), specific etiology, and cryptogenic. We investigated their prevalence, as per the new definition, in individuals undergoing health check‐ups. Additionally, we analyzed the distribution of Fibrosis‐4 (FIB‐4) index and vibration‐controlled transient elastography (VCTE)‐derived liver stiffness measurement (LSM) for MASLD.In this cross‐sectional study, 6530 subjects undergoing a health check‐up in Japan were included. Conventional B‐mode ultrasound was carried out on all 6530 subjects, and those with MASLD underwent VCTE.The prevalence of SLD was 39.5%, comprising MASLD 28.7%, MetALD 8.6%, ALD 1.2%, specific etiology SLD 0.3%, and cryptogenic SLD 0.7%. Subjects with VCTE‐derived LSM ≥8 kPa constituted 2.1% of MASLD. FIB‐4 ≥1.3 showed that the sensitivity, specificity, positive predictive value (PPV), and negative predictive value for diagnosing VCTE‐derived LSM ≥8 kPa were 60.6%, 77.0%, 5.3%, and 98.9%, respectively. The referral rate to specialists was 23.8% using FIB‐4 ≥1.30. “FIB‐4 ≥1.3 in subjects <65 years and FIB‐4 ≥2.0 in subjects ≥65 years” showed higher PPV (6.7%) and lower referral rate (17.1%) compared with FIB‐4 ≥1.3, but the sensitivity (54.5%) did not show adequate diagnostic capability as a noninvasive test for diagnosing VCTE‐derived LSM ≥8 kPa.Acknowledging the selection bias in hepatology centers, we undertook this prospective health check‐up study. Although the FIB‐4 index proves to be a convenient marker, it might not perform well as a primary screening tool for liver fibrosis in the general population (UMIN Clinical Trials Registry No. UMIN000035188). [ABSTRACT FROM AUTHOR]

Arrhythmia is the main cause of sudden cardiac death, and ECG signal analysis is a common method for the noninvasive diagnosis of arrhythmia. In this paper, we propose an arrhythmia classification model based on the combination of a channel attention mechanism (SE module), convolutional neural network (CNN), and long short-term memory neural network (LSTM). The data of this model use the MIT-BIH arrhythmia database, and after noise reduction of raw ECG data by the EEMD denoising algorithm, a CNN-LSTM is used to learn features from the data, and the fusion channel attention mechanism is used to adjust the weight of the feature map. The CNN-LSTM-SE model is compared with the LSTM, CNN-LSTM, and LSTM-attention models, and the models are evaluated using Precision, Recall, and F1-Score. The classification performance of the tested CNN-LSTM-SE classification prediction model is better, with a classification accuracy of 98.5%, a classification precision rate of more than 97% for each label, a recall rate of more than 98%, and an F1-score of more than 0.98. It meets the requirements of arrhythmia classification prediction and has a certain practical value. [ABSTRACT FROM AUTHOR]

• Endometriosis diagnosis requires a reliable, noninvasive diagnostic test. • Menstrual blood provides a readily accessible source for investigating endometriosis. • Menstrual blood aromatase, SF-1, and HSD17B2 showed high diagnostic accuracy. • Menstrual blood biomarkers suggest the prospects for endometriosis prognostic and monitoring. Endometriosis diagnostic delays are still encountered due to the lack of a reliable, noninvasive diagnostic test. Besides, menstrual blood is a relatively untapped field for diagnostics, yet it provides a readily accessible source for investigating common gynecological conditions. In the present study, we aim to evaluate the expression levels of menstrual blood aromatase, SF-1, and HSD17B2 from women with and without endometriosis and their diagnostic performance. A total of 40 subjects participated in this study, including 20 patients from each endometriosis and non-endometriosis group. The endometriosis group comprised patients with proven endometriosis confirmed by pathological diagnosis and pelvic ultrasound examination, then requiring endometrial biopsy determined by the clinicians. The non-endometriosis group consisted of women who had primary and secondary infertility and underwent endometrial examination without any visible endometriosis lesion. The menstrual blood and eutopic endometrial tissue of enrolled subjects were collected, and the relative expression of the genes was performed by quantitative real-time polymerase chain reaction (qPCR). ROC curve was used to evaluate the diagnostic efficacy of aromatase, SF-1, and HSD17B2. We found significantly higher expressions of aromatase, SF-1, and HSD17B2 in the menstrual blood of the endometriosis group compared to non-endometriosis (P < 0.05). In contrast, examination of eutopic endometrial tissue of both groups only found significant in HSD17B2 (P < 0.05), while aromatase and SF-1 showed no statistically significant variance. The Area Under Curve (AUC) of aromatase, SF-1, and HSD17B2 in the menstrual blood was 0.977, 0.862, and 0.807, respectively. The optimal cutoff value was determined to be >1.63 (sensitivity = 95 % and specificity = 90 %) for aromatase, >1.71 (sensitivity = 90 % and specificity = 80 %) for SF-1, and >1.83 (sensitivity = 80 % and specificity = 75 %) for HSD17B2. Our study showed that aromatase, SF-1, and HSD17B2 in the menstrual blood solidly discriminate between endometriosis and non-endometriosis patients with high diagnostic accuracy. However, further confirmation in larger cohorts is required to validate the reliability of these biomarkers to endometriosis. [ABSTRACT FROM AUTHOR]

Background: The discovery of the hepatitis C virus (HCV) and direct-acting antiviral (DAA) drugs is one of the major milestones in the last 3 decades of medicine. These discoveries encouraged the World Health Organization (WHO) to set an ambitious goal to eliminate HCV by 2030, meaning "a 90% reduction in new cases of chronic HCV, a 65% reduction in HCV deaths, and treatment of 80% of eligible people with HCV infections." Summary: This review summarizes the key achievements from the discovery of HCV to the development of effective treatment and global elimination strategies. A better understanding of HCV structure, enzymes, and lifecycle led to the introduction of new drug targets and the discovery of DAA. Massive public health interventions are required, such as screening, access to care, treatment, and post-care follow-up, to make the most of DAA's potential. Screening must be supported by fast, accessible, sensitive, specific HCV diagnostic tests and noninvasive methods to determine the stage of liver disease. Linkage to care and treatment access are critical components of a comprehensive HCV elimination program, and decentralization plays a key role in ensuring their effectiveness. Key Messages: Effective and simple screening strategies, rapid diagnostic tools, linkage to health care, and accessible treatment are key elements to achieving the WHO's goal. Incorporating treatment as prevention strategies into elimination programs together with preventive education and harm reduction interventions can have a profound and lasting impact on reducing both the incidence and prevalence of HCV. However, WHO's goal can be challenging to implement because of the need for high financial resources and strong political commitment. [ABSTRACT FROM AUTHOR]

Introduction: Pancreatic ductal adenocarcinoma (PDAC) has the lowest survival rate among all major cancers due to a lack of symptoms in early stages, early detection tools, and optimal therapies for late-stage patients. Thus, effective and non-invasive diagnostic tests are greatly needed. Recently, circulating miRNAs have been reported to be altered in PDAC. They are promising biomarkers because of stability in the blood, ease of non-invasive detection, and convenient screening methods. This study aimed to use blood-based miRNA biomarkers and various analysis methods in the development of a machine-learning (ML) model for PDAC. Methods: Blood-based miRNAs associated with PDAC were collected from open sources. miRNA sequences, targeted genes, and involved pathways were used to construct a set of descriptors for an ML model. Results: Bioinformatics analysis revealed that most genes in pancreatic cancer and insulin signaling pathways were targeted by the PDAC-related miRNAs. The best-performing ML model with the Random Forest classifier was able to achieve an accuracy of 88.4%. Model evaluations of an independent PDAC-associated miRNAs test set had 100% accuracy while non-cancer miRNAs had 52.4% accuracy, indicating specificity to PDAC. Conclusions: Our results suggest an ML model developed using blood-based miRNA biomarkers’ target gene, pathway, and sequence features could be potentially implicated in PDAC diagnostics. [ABSTRACT FROM AUTHOR]

Current malaria diagnostic methods require blood collection, which may be associated with pain and the risk of transmitting blood-borne pathogens, and often create poor compliance when repeated sampling is needed. This study determined the potential use of non-invasive methods (saliva and urine specimens) as alternative sample sources for the diagnosis of malaria infection using real-time polymerase Chain Reaction (qPCR) among children below five years in Nnewi, Anambra State, Nigeria. Biomarkers (18S rRNA) were captured and concentrated from saliva and urine samples using a magnetic bead-based method. DNA recovered from the saliva and urine samples was amplified using qPCR. The results revealed that, out of the 552 participants recruited in this study, the malaria prevalence based on blood microscopy was 55.1%. The prevalence of malaria among children based on the qPCR of saliva specimens was 343 (62.1%), out of which 301 (87.7%) were true positives (TP) and 42 (12.3%) were false positives (FP) when compared with microscopy. Moreover, the prevalence of malaria among children based on qPCR of urine specimens was 269 (48.7%), of which 237 (88.1%) were true positive (TP) and 32 (11.9%) were false positive (FP). When the qPCR method was compared to thick blood film-microscopy as the reference standard, saliva qPCR had a sensitivity of 98.7%, specificity of 80.0%, positive predictive value (PPV) of 87.2%, and negative predictive value (NPV) of 97.8%; urine qPCR had a sensitivity of 88.1%, specificity of 84.3%, PPV of 88.5%, and NPV of 83.8%. Saliva and urine samples are therefore promising non-invasive approaches for malaria diagnosis, and their qPCR has a sensitivity comparable to that of blood microscopy, despite the limitations of cost and turnaround time. [ABSTRACT FROM AUTHOR]

Helicobacter pylori infection is often acquired in early childhood. While most infected children remain asymptomatic, H. pylori can cause chronic gastritis, gastric ulceration, and, in the long term, gastric cancer. This article aimed to review different diagnostic and treatment options and discuss the challenges associated with applying the current guidelines in the real world. Relevant articles published from 2015 to August 2023 in the English language in PubMed and Medline electronic databases were extracted using subject headings and keywords of interest to the topic. References of interest in the selected articles were also considered. Invasive and noninvasive diagnostic tests have advantages but also disadvantages and limitations according to the clinical setting and age of the child. Guidelines recommend not performing diagnostic testing in children with long-lasting or recurrent abdominal complaints or cases of a family history of severe disease caused by H. pylori. However, parents regularly consult with the explicit demand to test for H. pylori because of them or a close family member experiencing severe gastric disease caused by H. pylori. In some situations, it may be challenging for the healthcare professional to stick to evidence-based guidelines and not consider "patient-centered care," with the risk of putting a trustful relationship in danger. Physicians may find it challenging not to perform diagnostic tests for H. pylori and prescribe eradication treatment in specific clinical settings when maintaining a trusting patient-physician relationship by applying this "patient-centered care" method when evidence-based guidelines recommend differently. [ABSTRACT FROM AUTHOR]

Objective: A report on the cross-cultural adaptation and validation process of the Rome IV Diagnostic Questionnaire for children aged four years and over into Saudi-Arabian Arabic for use in assessing the prevalence of functional gastrointestinal disorders in children in Saudi Arabia. Method: A mixed-methods approach was used in translating the 60-item original English version of the questionnaire. The process included four steps followed by a cognitive debriefing and was guided by the Rome Foundation. The questionnaire was tested for practicability with 10 participants of children aged four years and older. The whole study took place between October 2020 and April 2021. Results: The original questionnaire repeated information on areas of pain experienced by children, which did not show up in the backward, English, translation. The back-translated version occasionally provided medical expressions that were then explained between parentheses in plain English, for example, dyspepsia (burning feeling). The expert panel indicated that all questionnaire items reached the set 90% agreement level, confirming that the questionnaire is fully understandable and valid for use. Preliminary testing with 10 participants (four years and older) revealed functional constipation to have the highest prevalence among the participants (40%, n=4), followed by irritable bowel syndrome (20%) and abdominal migraine (20%). Conclusion: This study provides a detailed report on the translation process of the tested ROME- IV Diagnostic Questionnaire for children aged four years and over into Saudi Arabic following Rome Foundation guidelines. The results of the preliminary test should encourage researchers and clinicians in Saudi Arabia to utilize the tool for noninvasive diagnosis of functional gastrointestinal disorders in children. [ABSTRACT FROM AUTHOR]

Introduction Acute Compartment Syndrome (ACS) is a severe trauma caused by elevated intra-muscle-compartment pressure (ICP). The current standard method for diagnosis is to insert a needle into the muscle sterilely under anesthesia. However, to secure the environment is sometimes not easy and leads to delays in diagnosis. Recently, we have focused on shear wave ultrasound elastography (SWE) as an alternative, which can be done concisely in unclean environment and without anesthesia. We would like to report the usefulness of SWE for ACS diagnosis using 2-pedal walking turkey model recently developed in our lab. Materials and Methods A total of 32 1-year-old Bourbon turkeys were used. 5% solution of chicken albumin was infused continuously into the tibialis cranialis (TC) muscle using IV pump. The ICP was increased stepwise from 0 to 50 mmHg. During the rising of ICP, the correlation between values of SWE (kPa) and ICP (mmHg) was measured. After the ICP reached 50 mmHg, half of the turkeys were maintained at this pressure for 2 hours and the rest for 6 hours. After infusion, a fasciotomy was performed on the half turkey. Half of the turkeys were euthanized after 2 weeks and the rest after 6 weeks. SWE of TC muscle and walking gait data on turkeys using a portable walkway system were measured weekly until euthanasia. At euthanasia, isometric tetanic muscle force (ITF) tests to TC muscle and histological evaluations were performed. Results SWE value (kPa) was highly significantly correlated to the actual ICP (mmHg) (R2 = 0.91). Stance of ACS side leg were significantly extended, and swing of the control side shortened from the second to the third week after ACS in the 6 hours infusion-no-fasciotomy group (P  < 0.05*). ITF was significantly reduced mainly in the 6 hours infusion group (P  < 0.05*). Histological evaluation revealed that in the 6 hours infusion and 6 weeks survival group, both the muscle fiber and intercellular distances were significantly expanded (P  < 0.05). Conclusion SWE seems to be a substitute measure of ICP in diagnosing ACS. With regard to our in vivo ACS model using turkey, survival at 50 mmHg ICP for 6 hours and 6 weeks post ACS would be an appropriate situation. [ABSTRACT FROM AUTHOR]

Introduction: The combination of total body photography (TBP) and digital dermoscopy (DD) for monitoring patients with a high risk for melanoma can allow early detection of melanoma. This study aimed to examine if the use of three-dimensional (3D)-TBP, DD, and reflectance confocal microscopy (RCM) for regular monitoring of patients at high risk for melanoma was beneficial in comparison to monitoring using dermoscopy alone. Methods: The intervention group (IG) underwent 3D-TBP examinations at every visit, along with DD and/or RCM for diagnosis and/or monitoring of pigmented lesions if necessary. The control group (CG) underwent dermoscopy examinations alone. Results: A total of 600 patients (324 male and 276 female) were followed up over a median period of 23 months (mean, 2.85 visits) in the IG and 22 months (mean, 2.74 visits) in the CG (p = 0.009). DD and RCM monitoring were performed for 166 and 105 lesions, respectively. The number needed to treat (NNT) to diagnose melanoma with RCM was 2.83. The IG included more second primary melanomas (22 vs. 1, p = 0.022) and more excised nevi (186 vs. 10, p < 0.001), which consisted of more dysplastic nevi (137 vs. 2, p < 0.001). Among the melanomas diagnosed in the IG, three were diagnosed directly with RCM, nine with a combination of 3D-TBP and RCM, and 10 with dermoscopy alone. Conclusion: Follow-up assessments with a combination of 3D-TBP, DD, and RCM led to the detection of more melanomas in comparison to the CG. The use of RCM reduced the NNT for melanocytic lesions. Plain Language Summary: The combination of total body photography (TBP) and digital dermoscopy (DD) for the monitoring of patients with high risk for melanoma leads to early detection of melanoma. The aim of the present study was to examine if regular monitoring of patients with high risk for melanoma with 3D-TBP, DD, and confocal microscopy (RCM) leads to a benefit in comparison to a control group (CG). The intervention group (IG) was examined with 3D-TBP at every visit. If necessary, DD and/or RCM were used for diagnosis and/or monitoring of pigmented lesions. The CG was examined clinically with dermoscopy only. A total of 600 patients (324 male and 276 female) were followed up between April 21, 2021, and January 8, 2024. Lesions (n = 166) were monitored with DD and 105 lesions were examined with RCM. The number of lesions that the dermatologists had to cut out to find a melanoma was 2.83, when RCM was used. There were more melanomas (22 vs. 1, p = 0.022) and more nevi excised in the IG (186 vs. 10, p < 0.001), among them more dysplastic nevi (137 vs. 2, p < 0.001). Out of the melanomas diagnosed in the IG, three melanomas were diagnosed with RCM directly, nine melanomas with the combination of 3D-TBP and RCM, and 10 melanomas were diagnosed clinically with dermoscopy only. The follow-up with the combination of 3D-TBP, DD and RCM led to detection of more melanomas in comparison to a CG. RCM led to a reduced NNT for melanocytic lesions. [ABSTRACT FROM AUTHOR]

AbstractConsiderable interest has focused on cell-free DNA (cfDNA) methylation for noninvasive prenatal diagnosis. We investigated maternal plasma DNA methylation using a simple protocol. Eighty plasma samples from pregnant women were separated for cfDNA methylation determination, including 13 from patients with gestational diabetes mellitus (GDM). Four CpG sites of the LHX3 gene were detected. The results show that methylation-sensitive high-resolution melting (MS-HRM) may be used for semi-quantitative determination of cfDNA methylation. There are extensive cfDNA methylation modifications at different gestational ages and different patterns were observed at different CpG sites. Hypermethylation was observed in the second trimester of pregnancy and GDM. Significant differences were observed in the two CpG sites in LHX3 between those with GDM and in the second trimester. It is suggested that cfDNA methylation and its level may be biomarkers for noninvasive prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Cardiovascular diseases are the main cause of death in the world and cardiovascular imaging techniques are the mainstay of noninvasive diagnosis. Aortic stenosis is a lethal cardiac disease preceded by aortic valve calcification for several years. Data-driven tools developed with Deep Learning (DL) algorithms can process and categorize medical images data, providing fast diagnoses with considered reliability, to improve healthcare effectiveness. A systematic review of DL applications on medical images for pathologic calcium detection concluded that there are established techniques in this field, using primarily CT scans, at the expense of radiation exposure. Echocardiography is an unexplored alternative to detect calcium, but still needs technological developments. In this article, a fully automated method based on Convolutional Neural Networks (CNNs) was developed to detect Aortic Calcification in Echocardiography images, consisting of two essential processes: (1) an object detector to locate aortic valve – achieving 95% of precision and 100% of recall; and (2) a classifier to identify calcium structures in the valve – which achieved 92% of precision and 100% of recall. The outcome of this work is the possibility of automation of the detection with Echocardiography of Aortic Valve Calcification, a lethal and prevalent disease. [ABSTRACT FROM AUTHOR]

Liquid biopsy, a noninvasive diagnosis that examines circulating tumor components in body fluids, is increasingly used in cancer management. An overview of relevant literature emphasizes the current state of liquid biopsy applications in cancer care. Biomarkers in liquid biopsy, particularly circulating tumor DNA (ctDNA), circulating tumor RNAs (ctRNA), circulating tumor cells (CTCs), extracellular vesicles (EVs), and other components, offer promising opportunities for early cancer diagnosis, treatment selection, monitoring, and disease assessment. The implementation of liquid biopsy in precision medicine has shown significant potential in various cancer types, including lung cancer, colorectal cancer, breast cancer, and prostate cancer. Advances in genomic and molecular technologies such as next-generation sequencing (NGS) and digital polymerase chain reaction (dPCR) have expanded the utility of liquid biopsy, enabling the detection of somatic variants and actionable genomic alterations in tumors. Liquid biopsy has also demonstrated utility in predicting treatment responses, monitoring minimal residual disease (MRD), and assessing tumor heterogeneity. Nevertheless, standardizing liquid biopsy techniques, interpreting results, and integrating them into the clinical routine remain as challenges. Despite these challenges, liquid biopsy has significant clinical implications in cancer management, offering a dynamic and noninvasive approach to understanding tumor biology and guiding personalized treatment strategies. [ABSTRACT FROM AUTHOR]

Background and Aim: To identify individuals with metabolic dysfunction‐associated steatohepatitis (MASH) or "at‐risk" MASH among patients with metabolic dysfunction‐associated steatotic liver disease (MASLD), three noninvasive models are available with satisfactory efficiency, which include magnetic resonance imaging [MRI]‐ AST (MAST), FibroScan‐AST (FAST score), and magnetic resonance elastography [MRE] plus FIB‐4 (MEFIB). We aimed to evaluate the most accurate approach for diagnosing MASH or "at‐risk" MASH. Methods: We included 108 biopsy‐proven MASLD patients who underwent simultaneous assessment of MRE, MRI proton density fat fraction (MRI‐PDFF), and FibroScan scans. Compared with the histological diagnosis, we analyzed the AUC of each model and assessed the accuracy. Results: Our study cohort consisted of 64.8% of MASH and 25.9% of "at‐risk" MASH. When analyzing the performance of each model for the diagnostic accuracy of MASH, we found that the AUC [95% CI] of MAST was comparable to FAST (0.803 [0.719–0.886] vs 0.799 [0.707–0.891], P = 0.930) and better than MEFIB (0.671 [0.571–0.772], P = 0.005). Similar findings were observed in the "at‐risk" MASH patients. The AUCs [95% CI] for MAST, FAST, and MEFIB were 0.810 [0.719–0.900], 0.782 [0.689–0.874], and 0.729 [0.619–0.838], respectively. The models of MAST and FAST had comparable AUCs (P = 0.347), which were statistically significantly higher than that of MEFIB (P = 0.041). Additionally, the cutoffs for diagnosis of MASH were lower than "at‐risk" MASH. Conclusion: MAST and FAST performed better than MEFIB in diagnosing "at‐risk" MASH and MASH using lower cutoff values. Our findings provided evidence for selecting the most accurate noninvasive model to identify patients with MASH or at‐risk MASH. [ABSTRACT FROM AUTHOR]

Background & Aims: There is a need to reduce the screen failure rate (SFR) in metabolic dysfunction‐associated steatohepatitis (MASH) clinical trials (MASH+F2‐3; MASH+F4) and identify people with high‐risk MASH (MASH+F2‐4) in clinical practice. We aimed to evaluate non‐invasive tests (NITs) screening approaches for these target conditions. Methods: This was an individual participant data meta‐analysis for the performance of NITs against liver biopsy for MASH+F2‐4, MASH+F2‐3 and MASH+F4. Index tests were the FibroScan‐AST (FAST) score, liver stiffness measured using vibration‐controlled transient elastography (LSM‐VCTE), the fibrosis‐4 score (FIB‐4) and the NAFLD fibrosis score (NFS). Area under the receiver operating characteristics curve (AUROC) and thresholds including those that achieved 34% SFR were reported. Results: We included 2281 unique cases. The prevalence of MASH+F2‐4, MASH+F2‐3 and MASH+F4 was 31%, 24% and 7%, respectively. Area under the receiver operating characteristics curves for MASH+F2‐4 were.78,.75,.68 and.57 for FAST, LSM‐VCTE, FIB‐4 and NFS. Area under the receiver operating characteristics curves for MASH+F2‐3 were.73,.67,.60,.58 for FAST, LSM‐VCTE, FIB‐4 and NFS. Area under the receiver operating characteristics curves for MASH+F4 were.79,.84,.81,.76 for FAST, LSM‐VCTE, FIB‐4 and NFS. The sequential combination of FIB‐4 and LSM‐VCTE for the detection of MASH+F2‐3 with threshold of.7 and 3.48, and 5.9 and 20 kPa achieved SFR of 67% and sensitivity of 60%, detecting 15 true positive cases from a theoretical group of 100 participants at the prevalence of 24%. Conclusions: Sequential combinations of NITs do not compromise diagnostic performance and may reduce resource utilisation through the need of fewer LSM‐VCTE examinations. [ABSTRACT FROM AUTHOR]

Lipomatous pseudohypertrophy of the pancreas (LPH) is a rare disease in which the pancreatic parenchyma is replaced with mature adipose tissue. It is an idiopathic condition whose diagnosis is made based on histopathological analyses. Herein, we report the case of a 50-year-old male patient with a lipomatous mass in the head of the pancreas on computed tomography for close examination of a renal tumor. We suspected liposarcoma, and laparotomy was performed. However, histological analyses revealed LPH. Several imaging findings of LPH can enable a noninvasive diagnosis and help its clinical approach. [ABSTRACT FROM AUTHOR]

Introduction: Colorectal cancer (CRC) is one of the most deadly cancers on a global scale. Diagnosis of CRC is challenging and it is often detected at a late stage. Identification of relevant biomarkers could lead to the development of effective diagnostic methods for CRC. Areas covered: We reviewed the literature on lipid (including exosomal) biomarkers that have the potential to become common, minimally invasive and effective diagnostic tools for CRC. We showed that differences in lipid levels (single compounds and entire panels) make it possible to classify patients into diseased or healthy groups, determine the stage of CRC, as well as accompanying inflammation and immune reactions associated with tumorigenesis. We also discussed exosomes which are important components of the tumor microenvironment that influence tumor progression and for which only a small number of studies were conducted so far in this area. Expert opinion: A rapid development in the field of lipid-based biomarkers, including exosomal lipid biomarkers, is expected as growing evidence shows their potential application and good accuracy. However, one of the major issues that needs to be addressed within this topic is to translate findings into a noninvasive and versatile diagnostic test robustly validated in clinical conditions. [ABSTRACT FROM AUTHOR]

The article discusses a case of a woman in her 40s with recalcitrant acneiform papules on her face, which were later diagnosed as multiple miliary osteoma cutis (MMOC). MMOC is a rare condition characterized by intradermal bone formation, predominantly affecting women in their fourth to fifth decades of life. Diagnosis is confirmed through histopathology, and treatment options include needle extirpation and topical tretinoin. The article emphasizes the importance of considering MMOC in women with resistant acne lesions and suggests biopsy as a diagnostic tool. [Extracted from the article]

Conventional screening options for colorectal cancer (CRC) detection are mainly direct visualization and invasive methods including colonoscopy and flexible sigmoidoscopy, which must be performed in a clinical setting and may be linked to adverse effects for some patients. Non-invasive CRC diagnostic tests such as computed tomography colonography and stool tests are either too costly or less reliable than invasive ones. On the other hand, volatile organic compounds (VOCs) are potentially ideal non-invasive biomarkers for CRC detection and monitoring. The present review is a comprehensive presentation of the current state-of-the-art VOC-based CRC diagnostics, with a specific focus on recent advancements in biosensor design and application. Among them, breath-based chromatography pattern analysis and sampling techniques are overviewed, along with nanoparticle-based optical and electrochemical biosensor approaches. Limitations of the currently available technologies are also discussed with an outlook for improvement in combination with big data analytics and advanced instrumentation, as well as expanding the scope and specificity of CRC-related volatile biomarkers. [ABSTRACT FROM AUTHOR]

With the aim to shorten the time for diagnosis and accelerate access to correct management, a non-invasive diagnostic test for endometriosis was developed and validated. The IVD test combines an ELISA test kit to quantify CA125 and BDNF concentrations in serum and a data treatment algorithm hosted in medical software processing results from the ELISA test and responses to six clinical variables. Serum samples and clinical variables extracted from psychometric questionnaires from 77 patients were collected from the Oxford Endometriosis CaRe Centre biobank (UK). Case/control classification was performed based on laparoscopy and histological verification of the excised lesions. Biomarkers serum concentrations and clinical variables were introduced to the software, which generates the qualitative diagnostic result ("positive" or "negative"). This test allowed the detection of 32% of cases with superficial endometriosis, which is an added value given the limited efficacy of existing imaging techniques. Even in the presence of various confounding medical conditions, the test maintained a specificity of 100%, supporting its suitability for use in patients with underlying medical conditions. [ABSTRACT FROM AUTHOR]

The intricate consortium of microorganisms in the human gut plays a crucial role in different physiological functions. The complex known‐unknown elements of the gut microbiome are perplexing and the absence of standardized procedures for collecting and preserving samples has hindered continuous research in comprehending it. The technological bias produced because of lack of standard protocols has affected the reproducibility of results. The complex nature of diseases like colorectal cancer, gastric cancer, hepatocellular carcinoma and breast cancer require a thorough understanding of its etiology for an efficient and timely diagnosis. The designated protocols for collection and preservation of stool specimens have great variance, hence generate inconsistencies in OMICS studies. Due to the complications associated to the nature of sample, it is important to preserve the sample to be studied later in a laboratory or to be used in the future research purpose. Stool preservation is gaining importance due to the increased use of treatment options like fecal microbiota transplantation to cure conditions like recurrent Clostridium difficile infections and for OMICS studies including metagenomics, metabolomics and culturomics. This review provides an insight into the importance of omics studies for the identification and development of novel biomarkers for quick and noninvasive diagnosis of various diseases. Significance statement: Fecal specimen is a slightly intrusive test for disease diagnosis.Biomarker analysis for diseases in stool specimen detects disease at early stage.Stool specimen is a determinant of gut health. [ABSTRACT FROM AUTHOR]

BACKGROUND: Limb-threatening ischemia is one of more important problem of fundamental and practice modern angiology. Despite the development of modern diagnostic and therapeutic approaches good results, Limb-Threatening Ischemia deserves special attention and occupies a special place among medical, biomedical and socio-economic problems. A comprehensive study will make it possible to develop new approaches, the result of which should be a decrease in the total number of diseases, as well as a minimization of complications leading to large-scale tissue losses and amputations. OBJECTIVE: We set out to develop a new non-invasive method for studying microcirculation in patients with limb-threatening ischemia. METHODS: We investigated control group and adults of both sexes (age: 50–75 years) with a confirmed diagnosis of the claudication. Men and women in ratio 1 : 1 in control and target groups. RESULTS: The research results showed that the original microcirculation coefficient calculated according to our algorithm in patients with intermittent claudication was 70% better than in the control group and 120% of patients were worse than in patients with Limb-Threatening Ischemia. CONCLUSION: Our research team created an original so called coefficient of microcirculation. In order to determine it, we studied the blood flow in the pulsations on the left and right side of the posterior tibial arteries of the legs at rest (names of lines SIN F, DEX F) and during post-ischemic hyperemia in the same lines. The study of microcirculation based on the microcirculation coefficient is very informative. The importance of this methodology for studying the total peripheral blood flow and arteriolar response is due to fundamental and clinical developments, as well as financial costs. Considering the technique described in the article can be easily mastered by medical personnel, it is easy to use in the inpatient and outpatient sectors, its use does not require large areas of the medical facility, the equipment is not expensive and the test itself does not cause inconvenience to the patient, then we can recommend including the described method is included in the list of functional diagnostic tests as a direct and quantitative method for determining microcirculation (without special costs on the part of medical institutions, insurance companies and the patient). [ABSTRACT FROM AUTHOR]

Early malaria diagnosis improves outcomes during malaria treatment; routine diagnostic techniques rely on blood samples obtained invasively. Therefore, this study used infra-red (IR) spectroscopy coupled with Principle Component Analysis (PCA) to study the urinary profile of malaria patients and that of controls aimed at understanding metabolite perturbation during malaria infection so as to contribute towards development of non-invasive malaria diagnosis methods. Freeze dried human urine samples form malaria infected individuals (cases) and controls were screened in the IR region of 4000 cm−1 to 600 cm−1 and overall spectral differences were observed at wave numbers 1618 cm−1, 1679 cm−1 (amino acids). Peaks at 3030 cm−1 (NH4+) and 940 cm−1 (O–H of carboxylic acids) showed high absorbance in patients compared to controls. Liquid-chromatography–mass spectrometry (LC–MS/MS) was used to quantify amino acids in the urine samples and the results indicated a significant increase of amino acid cystine (P = 0.012). Lysine and tyrosine also increased in patients compared to controls. The use of IR-PCA differentiated clusters of urine samples from patients with malaria from control and the demonstrated amino acid perturbation is consistent with malaria infection. This data provides baseline information for application in development of a non-invasive diagnostic tests for malaria. Article Highlights: Infrared (IR) spectroscopy and Principle Component Analysis (PCA) were used to differentiate urine of malaria patients from controls. LC–MS/MS was used to determine creatinine, tyrosine, cystine, lysine and histidine in urine from malaria patients and controls The average concentration of cystine in patients and controls urine differed significantly. [ABSTRACT FROM AUTHOR]

Squamous cell carcinoma (SCC) is a prevalent malignancy affecting multiple organs in the human body, including the oral cavity, esophagus, cervix, and skin. Given its significant incidence and mortality rates, researchers are actively seeking effective diagnostic and therapeutic strategies. In recent years, exosomes and their molecular cargo, particularly circular RNA (circRNA), have emerged as promising areas of investigation in SCC research. Exosomes are small vesicles released into the extracellular environment by cells that contain biomolecules that reflect the physiological state of the cell of origin. CircRNAs, known for their unique covalently closed loop structure and stability, have garnered special attention in oncology and are closely associated with tumorigenesis, progression, metastasis, and drug resistance. Interestingly, exosomal circRNAs have been identified as ideal biomarkers for noninvasive cancer diagnosis and prognosis assessment. This article reviews the progress in research on exosomal circRNAs, focusing on their expression patterns, functions, and potential applications as biomarkers in SCC, aiming to provide new insights and strategies for the diagnosis and treatment of SCC. [ABSTRACT FROM AUTHOR]