Diagnostics最新文献

{"title":"Comparative Detection of <i>IDH1</i> R132H and <i>TERT</i> Promoter Mutations in Plasma and Cerebrospinal Fluid of Patients with Glioma Using Targeted Droplet Digital PCR.","authors":"Mark Jain, Tagir Rahmatullin, Ivan Alexeev, Ariadna Gomershtat, Margarita Gundobina, Larisa Samokhodskaya, Andrey Zuev","doi":"10.3390/diagnostics16203333","DOIUrl":"https://doi.org/10.3390/diagnostics16203333","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Molecular profiling is essential for glioma classification, but in some cases tissue sampling may be limited, whereas reported detectability of cell-free tumor DNA (cftDNA) in plasma and cerebrospinal fluid (CSF) varies considerably. The aim of this study was to compare the detection rates and concentrations of cftDNA carrying <i>IDH1</i> R132H and <i>TERT</i> promoter C228T/C250T mutations in paired plasma and CSF samples, as well as to examine associated clinical characteristics. <b>Methods</b>: 66 patients with WHO grade 1-4 gliomas were enrolled before surgery. Preoperative plasma and lumbar CSF were collected before tissue-damaging procedures. Cell-free DNA (cfDNA) was isolated from 5 mL of plasma and 2.5-5.0 mL of CSF and analyzed using mutation-specific droplet digital PCR (ddPCR) assays. <b>Results</b>: cfDNA was available from 65 CSF and 63 plasma samples. Total cfDNA concentration was lower in CSF than in plasma (medians: 434.1 vs. 1240.3 copies/mL; <i>p</i> < 0.001). Nevertheless, cftDNA carrying at least one of the assayed mutations was detected in 14/65 CSF samples (21.5%) and in 0/63 plasma samples (0.0%) (<i>p</i> < 0.001). <i>IDH1</i> R132H was detected in 4.6% of CSF samples, and <i>TERT</i> promoter mutations were detected in 16.9%. Every CSF mutation with available paired tissue data was also identified in the corresponding tumor. Glioma grade 4 and contrast-enhancing tumors were associated with higher CSF cfDNA, cftDNA carrying at least one of the assayed mutations, and mutant allele fraction values (<i>p</i> < 0.05), whereas tumor size and localization were not significantly associated with these parameters (<i>p</i> > 0.05). <b>Conclusions</b>: With the presented targeted ddPCR workflow, lumbar CSF was substantially more informative than plasma for detecting the selected glioma-associated mutations. CSF cftDNA analysis may complement tissue profiling, although broader panels and larger prospective studies are needed to establish its clinical sensitivity.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Accuracy and Renal Safety of Carbon Dioxide Angiography in Lower Limb Angiography: A Systematic Review and Meta-Analysis.","authors":"Mosab Fawzy Mossa Alassal, Thamir Alshamari, Arshia Rezaei, Faisal Muhammad Shaikh","doi":"10.3390/diagnostics16203341","DOIUrl":"https://doi.org/10.3390/diagnostics16203341","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Iodinated contrast media (ICM) used in lower limb angiography carry risks of contrast-induced nephropathy (CIN) and allergic reactions, particularly in patients with peripheral arterial disease (PAD) and renal dysfunction. Carbon dioxide (CO₂) angiography offers a potential non-nephrotoxic alternative. The purpose of this study was to evaluate the diagnostic accuracy and renal safety of CO₂ angiography compared with ICM in patients undergoing lower limb angiography for PAD. <b>Methods:</b> A systematic search of PubMed, Scopus, and Web of Science was performed from inception to 4 September 2025. Studies comparing CO₂ angiography with ICM in adult PAD patients were included. Risk of bias was assessed with QUADAS-2 for diagnostic accuracy studies and RoB 2 for randomised trials, and the methodological quality of comparative observational studies with the Newcastle-Ottawa Scale. Pooled sensitivity, specificity, adverse events, CIN, contrast volume, serum creatinine, and estimated glomerular filtration rate (eGFR) were analysed using random-effects models. <b>Results:</b> Nine studies (527 patients) were included. In three studies (111 patients) with extractable diagnostic accuracy data, CO₂ angiography showed pooled sensitivity of 0.89 (95% confidence interval [CI]: 0.78-0.95) and specificity of 0.96 (95% CI: 0.85-0.99). Adverse events did not differ significantly between groups (four studies; risk ratio [RR] 0.63, 95% CI: 0.15-2.71), but discomfort during CO₂ injection was common. CIN risk was lower with CO₂ (two studies; RR 0.31, 95% CI: 0.14-0.73; <i>p</i> = 0.007), and contrast volume was reduced by a mean of 80.71 mL (two studies; <i>p</i> < 0.00001). Pooled serum creatinine and eGFR estimates showed extreme heterogeneity (I² = 98-99%), with the two contributing studies reporting effects in opposite directions. <b>Conclusions:</b> In a small number of comparative studies, CO₂ angiography showed pooled sensitivity and specificity compatible with clinically useful diagnostic performance, although these exploratory estimates derive from three studies with unblinded reference standards. The lower risk of CIN with CO₂, observed in two studies, is hypothesis-generating, and CO₂ has adverse effects of its own, principally discomfort during injection. These findings should be confirmed in larger prospective trials before CO₂ can be regarded as an established alternative for patients at risk of CIN or iodine allergy.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heart Failure Beyond the Heart: Digestive-System Involvement and Its Diagnostic and Prognostic Implications-A Systematic Review.","authors":"Dragoș Forțofoiu, Ioana-Gabriela Dragne, Veronica Gheorman, Amelia-Valentina Genunche-Dumitrescu, Cristin-Constantin Vere, Dan-Nicolae Florescu","doi":"10.3390/diagnostics16203342","DOIUrl":"https://doi.org/10.3390/diagnostics16203342","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Heart failure (HF) is a systemic syndrome in which congestion, hypoperfusion, inflammation and neurohormonal activation may affect the liver, splanchnic circulation, intestinal barrier, pancreas, biliary system and nutritional state. This systematic review synthesised clinical evidence on digestive-system involvement in adults with established HF and examined its diagnostic and prognostic implications within a cautious cardio-gastrointestinal syndrome (CGIS) framework. <b>Methods:</b> The structured synthesis was based on an audited historical review register. The original project record reported 815 records before deduplication, although source-specific yields and the citation-level deduplication trail could not be reconstructed from the preserved files. A reproducibility-validation rerun was executed on 8 August 2026 in PubMed/MEDLINE, Scopus and Web of Science Core Collection, targeting literature through 1 July 2026; exact day-level cutoff reproducibility differed by database. The rerun recovered all ten benchmark reference-set reports but was not used to redefine the historical corpus and does not establish search exhaustiveness. The final 29-report register was re-audited for eligibility, design, analysed sample, principal findings and cohort overlap. Owing to substantial heterogeneity, findings were synthesised narratively. <b>Results:</b> 29 eligible reports represented approximately 26 cohort families. Hepatic and splanchnic involvement was the most mature evidence cluster, followed by intestinal congestion/barrier dysfunction. Pancreatic, biliary, microbiota and nutritional findings were less independently replicated. Liver biochemistry, composite hepatic scores and venous Doppler phenotypes showed marker-specific prognostic associations. Intestinal oedema was associated with impaired oral diuretic response. Direct pancreatic exocrine-insufficiency evidence was limited to faecal-elastase assessment. <b>Conclusions:</b> Digestive involvement in HF is clinically coherent but unevenly evidenced. CGIS is best regarded as a hypothesis-generating framework rather than a validated diagnostic entity, and prospective standardised studies are required before organ-specific biomarkers or imaging thresholds enter routine algorithms.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reliability, Quality, and Readability of Freely Available Large Language Models for Clinical Decision Support in Perforated Peptic Ulcer: A Blinded, Multidimensional Study.","authors":"Murat Coskun, Fatih Berke Inan, Bahaeddin Umur Aka, Alp Omer Canturk","doi":"10.3390/diagnostics16203335","DOIUrl":"https://doi.org/10.3390/diagnostics16203335","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Perforated peptic ulcer (PPU) is a common surgical emergency in which each hour before surgery increases mortality, and the decision is often made by a single surgeon on call. Large language models (LLMs) may offer rapid decision support, but their reliability in this setting is unknown. We compared five freely accessible LLMs in a blinded, multidimensional design. <b>Methods</b>: Twenty-four structured questions derived from the WSES 2020 guideline, covering the preoperative, intraoperative, and postoperative phases, were posed to the free versions of ChatGPT (GPT-5.3 Instant), Claude (Sonnet 4.6), DeepSeek-V3, Gemini (2.0 Flash), and Grok 3 during April and May 2026, yielding 120 responses. Two general surgeons blinded to model identity scored scientific reliability with the modified DISCERN instrument (mDISCERN, 8-40) as the primary measure and overall quality with the Global Quality Score (GQS, 1-5) as a secondary measure. Because every question was answered by all five models, the Friedman test was primary. <b>Results</b>: Models differed significantly in reliability (Friedman chi-square(4) = 71.35, <i>p</i> < 0.001, Kendall W = 0.743) and separated into two tiers: Claude (mDISCERN 37.83), Grok 3 (36.08), and DeepSeek-V3 (34.92) scored higher than ChatGPT (30.62) and Gemini (29.48). All between-tier comparisons were significant, whereas no within-tier comparison reached significance. Inter-rater agreement was moderate (mDISCERN ICC(2,k) = 0.647) and internal consistency high (Cronbach alpha 0.867 and 0.916). Reliability correlated positively with response length (rho = 0.717) and negatively with readability (rho = -0.452). <b>Conclusions</b>: Freely accessible LLMs vary substantially in reliability for PPU, so model choice has clinically meaningful consequences. This variation is specific to the models, versions, and access tier evaluated, and no model should be used for emergency surgical decision support without independent, setting-specific validation.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Growth and Pubertal Status in Children with Type 1 Diabetes: A Cross-Sectional Comparison with Non-Diabetic Controls.","authors":"Monica Simina Mihuta, Dana Stoian, Denisa Pescari, Lorena Alexandra Andris, Andreea Maria Pop, Jacqueline Alexandra Hurrelbrink, Marius Alexandru Chis, Oana-Alexandra Velea-Barta, Corina Paul","doi":"10.3390/diagnostics16203340","DOIUrl":"https://doi.org/10.3390/diagnostics16203340","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Type 1 diabetes mellitus (T1DM) has historically been associated with impaired linear growth and delayed pubertal development due to chronic insulin deficiency. Advances in intensive insulin therapy and glucose monitoring may have substantially reduced these effects. This study evaluated growth and pubertal development in children with T1DM treated with multiple daily injections (MDIs) or continuous subcutaneous insulin infusion (CSII) compared with non-diabetic controls and investigated whether metabolic control was associated with anthropometric outcomes. <b>M</b><b>ethods:</b> This retrospective observational study included 177 children aged 3-18 years: 102 with T1DM (60 treated with MDI and 42 with CSII) and 75 non-diabetic hospital-based controls. Height SDS, BMI SDS, Tanner stage, biochemical parameters, and diabetes-related variables were analyzed. Comparisons, correlations and multiple linear regression analyses were performed to evaluate associations between metabolic control and anthropometric parameters. <b>Results:</b> No significant differences were observed between children with T1DM and healthy controls regarding height SDS, BMI SDS, or pubertal development. Likewise, no anthropometric differences were identified between the MDI and CSII groups. Fasting plasma glucose was significantly lower in the CSII group (<i>p</i> < 0.001), whereas HbA1c was comparable between treatment modalities. Neither HbA1c nor other routinely assessed metabolic parameters showed significant associations with height SDS or BMI SDS in correlation or multivariable regression analyses. <b>Conclusions:</b> Children and adolescents with T1DM showed no significant differences in height SDS, BMI SDS, or Tanner stage compared with controls, and similar anthropometric findings were observed in patients receiving MDI and CSII. These results suggest that major disturbances in attained height and pubertal status were not evident in this contemporary cohort of children with T1DM. However, given the retrospective cross-sectional design, longitudinal studies are needed to determine how contemporary diabetes management and long-term metabolic control influence growth trajectories and pubertal progression.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined Approach with Ultrasound and Pressure-Volume Loops to Manage Mechanical Ventilation in Acute Hypoxemic Respiratory Failure.","authors":"Javiera Aguilera Scarpati, Diana Adrião, Pablo Mercado, Michel Slama, Nello De Vita, Rosanna Vaschetto, Marco Pozzi, Belaïd Bouhemad, Silvia Mongodi, Francesco Mojoli","doi":"10.3390/diagnostics16203339","DOIUrl":"https://doi.org/10.3390/diagnostics16203339","url":null,"abstract":"<p><p>Acute hypoxemic respiratory failure (AHRF), particularly acute respiratory distress syndrome (ARDS), is characterized by marked heterogeneity in lung morphology and mechanics, requiring individualized mechanical ventilation strategies that balance adequate gas exchange with the prevention of ventilator-induced lung injury (VILI). Lung ultrasound (LUS) has become a cornerstone of critical care imaging, allowing differential diagnosis, quantitative assessment of lung aeration, phenotyping of ARDS morphology, and monitoring of disease evolution and complications. However, imaging alone does not provide direct guidance for optimizing ventilator settings. Some modern ventilators enable the rapid bedside acquisition of tidal pressure-volume (PV) loops, allowing tidal hysteresis to be measured and thereby providing complementary physiological information by identifying cyclic opening and closing of lung units and signs of overdistension. Emerging evidence supports the use of tidal hysteresis thresholds to identify insufficient positive end-expiratory pressure (PEEP) associated with tidal recruitment/derecruitment and to guide individualized PEEP titration during decremental PEEP trials. This review discusses the rationale and practical implementation of an integrated approach combining critical care ultrasound and PV loops throughout the management of mechanically ventilated patients with AHRF. We describe how ultrasound can support diagnosis, phenotyping, monitoring of lung aeration, and detection of ventilation-related complications, while PV loops provide a practical physiological framework for optimizing ventilator settings. This approach may provide a comprehensive, non-invasive, and repeatable bedside assessment of lung morphology, aeration, and respiratory mechanics, potentially facilitating personalized mechanical ventilation strategies aimed at reducing the risk of VILI and optimizing patient management.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Localiser-Based Software-Assisted Patient Positioning in Chest CT: A Propensity Score-Matched Study.","authors":"Xinnan Shen, Li Tao, Wen Li, Youhong Cao, Jianping Liu, Yiting Wang, Meiqi Wang, Zhiwei Zhang","doi":"10.3390/diagnostics16203344","DOIUrl":"https://doi.org/10.3390/diagnostics16203344","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Vertical off-centring in chest CT impairs bowtie-filter beam-hardening correction, degrading noise uniformity and image quality. iCentering derives the patient's geometric centre from a single posteroanterior localiser and automatically adjusts table height. This study aimed to evaluate whether iCentering reduces off-centring distance (OCD) and improves image quality versus manual positioning in chest CT, and to investigate correlations between OCD and noise characteristics. <b>Methods</b>: In this retrospective, single-centre study, 192 propensity score-matched pairs from 423 adults undergoing non-contrast chest CT were analysed. OCD, objective image quality (standard deviation (SD), signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), figure of merit (FOM)), noise distribution ratio (NDR_A-P), and radiation dose indices were measured. Paired comparisons employed <i>t</i>-tests or Wilcoxon signed-rank tests with 95% confidence intervals (CIs) and effect sizes reported. Directionally stratified Spearman correlation and multivariable regression examined OCD-noise associations. <b>Results</b>: Intra- and inter-observer reliability was good to excellent (ICC 0.87-0.99 for OCD; 0.75-0.97 for most regions of interest). iCentering moved median OCD closer to zero at all levels (Level 1: -7.25 vs. -29.40 mm; Level 2: -1.45 vs. -22.00 mm; Level 3: 7.45 vs. -11.90 mm; all <i>p</i> < 0.001; r range: 0.76-0.77). Regarding image quality, SD decreased and SNR, CNR, and FOM increased at all levels (all <i>p</i> < 0.001), while NDR_A-P approached 1.00 (<i>p</i> < 0.05). Radiation dose indices were unchanged (<i>p</i> > 0.05). OCD correlated with SD (|<i>ρ</i>| = 0.478-0.812, <i>p</i> < 0.001); regression confirmed independent associations in both strata (OCD < 0: β range: -0.068 to -0.079, R² = 0.52-0.65; OCD > 0: β range: 0.056-0.078, R² = 0.28-0.54), whereas the association between OCD and NDR_A-P was weak. <b>Conclusions</b>: iCentering improves centring accuracy and objective image quality in chest CT, without increasing radiation exposure. Reduced OCD is independently associated with lower image noise, underscoring the value of precise centring.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pyonephrosis-An Updated Morphological Glimpse into the Contemporary Management of an Immemorial Pathology: A Narrative Review.","authors":"Silviu Latcu, Dorin Novacescu, Adelina Baloi, Flavia Zara, Cristina-Stefania Dumitru, Radu Caprariu, Talida Georgiana Cut, Adelina Marinescu, Voichita Elena Lazureanu, Felix Bratosin, Flaviu Lucian Petrica, Alin Cumpanas","doi":"10.3390/diagnostics16203334","DOIUrl":"https://doi.org/10.3390/diagnostics16203334","url":null,"abstract":"<p><p>Pyonephrosis-pus within an obstructed, infected renal collecting system, with suppurative parenchymal destruction-is a urological emergency and a potentially reversible cause of acute kidney injury (AKI); a contribution to chronic kidney disease (CKD) is biologically plausible but has not been demonstrated in pyonephrosis-specific longitudinal studies. This narrative review, reported with reference to the SANRA criteria and based on structured searches of PubMed/MEDLINE, Scopus, and Web of Science, synthesizes the epidemiology, pathophysiology, microbiology, morphological diagnosis, and contemporary management of pyonephrosis, distinguishing evidence generated in confirmed pyonephrosis from that in infected hydronephrosis, obstructive pyelonephritis, and stone-associated sepsis. Sonographic, computed tomographic, and magnetic resonance features are illustrated with original schematics and a case of perforated calculous pyonephrosis; reported Hounsfield-unit thresholds and apparent diffusion coefficients derive from small, single-center cohorts and are protocol- and population-dependent rather than universal cut-offs. Urgent decompression is strongly recommended by guidelines, but the supporting data are observational, so associations between drainage, its timing, and mortality remain vulnerable to confounding. Randomized comparisons of percutaneous nephrostomy and retrograde stenting are few, small, and inconsistent, and establish neither superiority nor equivalence in infected systems. We rate the certainty of each principal conclusion and identify research priorities.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pre-Transplant Laboratory Parameters and Early Outcomes in HBV-Related Deceased Donor Liver Transplantation.","authors":"Ayfer Serin, Safiye Koçulu Demir, İsmail Sivri, Ender Anılır, Birkan Bozkurt, Yaman Tokat","doi":"10.3390/diagnostics16203346","DOIUrl":"https://doi.org/10.3390/diagnostics16203346","url":null,"abstract":"<p><p><b>Background</b>: Early postoperative outcomes after deceased donor liver transplantation (DDLT) are influenced by recipient, donor, and perioperative factors. Routinely available pre-transplant laboratory tests may provide complementary information for risk assessment. This study aimed to explore associations between routine pre-transplant laboratory parameters and early postoperative outcomes after DDLT. <b>Methods</b>: This retrospective single-center descriptive pilot study included 32 adult recipients who underwent DDLT for hepatitis B virus-related liver disease between 2004 and 2019. Pre-transplant biochemical and hematologic parameters were evaluated in relation to in-hospital mortality, biliary complications, infectious complications, bleeding, and hospital stay. Descriptive group comparisons and exploratory receiver operating characteristic analyses were performed. <b>Results</b>: In-hospital mortality occurred in 6/32 recipients (18.8%), biliary complications in 5/32 (15.6%), infectious complications in 9/32 (28.1%), and postoperative bleeding in 2/32 (6.2%). Routine laboratory parameters did not significantly discriminate mortality. Among 28 recipients with available potassium measurements, four developed biliary complications. Potassium showed exploratory discrimination for biliary complications (AUC = 0.818, <i>p</i> = 0.048), based on only four biliary events. Bilirubin and GGT did not significantly discriminate mortality. <b>Conclusions</b>: Routine pre-transplant laboratory parameters showed no consistent association with in-hospital mortality after DDLT. The potassium association is hypothesis-generating and requires validation in larger cohorts before clinical application.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell-Free DNA-Based Blood Tests for Colorectal Cancer Screening: Current Advances, Challenges, and Future Perspectives.","authors":"Ghada Alkhawlani, Nasser Alsanea, Reem Alharbi, Meshal Al-Sharafa, Sami Alonazi, Samaa Abdullah, Mariam M Aleissa, Sameera Abuaish, Hanaa A Yamani, Alaa A Al-Masud","doi":"10.3390/diagnostics16203336","DOIUrl":"https://doi.org/10.3390/diagnostics16203336","url":null,"abstract":"<p><p><b>Background</b>: Colorectal cancer (CRC) is a major cause of rising global rates of cancer-related morbidity and mortality. CRC rates are particularly increasing among younger populations; however, the implementation of effective CRC screening programs remains limited. Colonoscopy, the gold standard CRC screening technique, is restricted by complex procedures, invasive methods, and low patient adherence. Therefore, non-invasive screening through circulating cell-free DNA (cfDNA)-based blood tests is emerging as an effective alternative. <b>Methods</b>: This narrative review summarizes recent advances in cfDNA-based blood tests for colorectal cancer screening and early detection. Relevant English-language publications from 2021 to 2025 were searched on PubMed, ScienceDirect, and Google Scholar databases, supplemented by examination of reference lists. The study evaluated various diagnostic performance measures [sensitivity, specificity, and AUC (area under the curve)] and compared cfDNA-based approaches with previously established screening methods. <b>Results</b>: CRC detection and diagnostic efficacies of cfDNA-based technologies (mutation analysis, fragmentomics, integrated multi-omics approaches, and methylation profiling) have been reported in several recent studies. Fragmentomics and integrated multi-omics strategies have reported high diagnostic accuracy in a small number of heterogeneous, non-pooled studies. During a large-scale ECLIPSE study, involving an average-risk screening population, the Shield blood-based assay demonstrated 83.1% sensitivity for CRC, whereas the sensitivity for advanced precancerous lesions was only 13.2%. However, lack of assay standardization, low sensitivity for advanced precancerous lesions, methodological heterogeneity, and the need for prospective validation before routine clinical implementation remain major limitations. <b>Conclusions</b>: cfDNA-based non-invasive screening tools offer promising colorectal cancer detection accuracy. However, prospective validation, standardization, and optimization of analytical workflows are mandatory for the widespread clinical implementation of these techniques.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"16 20","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149263978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}