DiagnosticsPub Date : 2025-08-31DOI: 10.3390/diagnostics15172212
Sameh Abd El-Ghany, Mahmood A Mahmood, A A Abd El-Aziz
{"title":"FracFusionNet: A Multi-Level Feature Fusion Convolutional Network for Bone Fracture Detection in Radiographic Images.","authors":"Sameh Abd El-Ghany, Mahmood A Mahmood, A A Abd El-Aziz","doi":"10.3390/diagnostics15172212","DOIUrl":"https://doi.org/10.3390/diagnostics15172212","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Bones are essential components of the human body, providing structural support, enabling mobility, storing minerals, and protecting internal organs. Bone fractures (BFs) are common injuries that result from excessive physical force and can lead to serious complications, including bleeding, infection, impaired oxygenation, and long-term disability. Early and accurate identification of fractures through radiographic imaging is critical for effective treatment and improved patient outcomes. However, manual evaluation of X-rays is often time-consuming and prone to diagnostic errors due to human limitations. To address this, artificial intelligence (AI), particularly deep learning (DL), has emerged as a powerful tool for enhancing diagnostic precision in medical imaging. <b>Methods</b>: This research introduces a novel convolutional neural network (CNN) model, the Multi-Level Feature Fusion Network (MLFNet), designed to capture and integrate both low-level and high-level image features. The model was evaluated using the Bone Fracture Multi-Region X-ray (BFMRX) dataset. Preprocessing steps included image normalization, resizing, and contrast enhancement to ensure stable convergence, reduce sensitivity to lighting variations in radiographic images, and maintain consistency. Ablation studies were conducted to assess architectural variations, confirming the model's robustness and generalizability across data distributions. MLFNet's high accuracy, interpretability, and efficiency make it a promising solution for clinical deployment. <b>Results</b>: MLFNet achieved an impressive accuracy of 99.60% as a standalone model and 98.81% when integrated into hybrid ensemble architectures with five leading pre-trained DL models. <b>Conclusions</b>: The proposed approach supports timely and precise fracture detection, optimizing the diagnostic process and reducing healthcare costs. This approach offers significant potential to aid clinicians in fields such as orthopedics and radiology, contributing to more equitable and effective patient care.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052373","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}
DiagnosticsPub Date : 2025-08-31DOI: 10.3390/diagnostics15172213
Ahmed O El Sadaney, John C Benson, Felix E Diehn, John I Lane, Paul J Farnsworth
{"title":"Aberrant ICA and Associated Skull Base Foramina Visualized on Photon Counting Detector CT: Interesting Images.","authors":"Ahmed O El Sadaney, John C Benson, Felix E Diehn, John I Lane, Paul J Farnsworth","doi":"10.3390/diagnostics15172213","DOIUrl":"https://doi.org/10.3390/diagnostics15172213","url":null,"abstract":"<p><p>Aberrant internal carotid arteries (ICA) are congenital vascular anomalies that occur from involution of the cervical portion of the ICA, which leads to enlargement of the normally small collateral inferior tympanic and caroticotympanic arteries. The inferior tympanic artery is a branch of the external carotid artery, usually the ascending pharyngeal artery, which extends through the inferior tympanic canaliculus (ITC), a small foramen located along the cochlea promontory. Aberrant ICAs can also be associated with a persistent stapedial artery (PSA), which is an abnormal vessel that arises from the petrous ICA and passes through the obturator foramen of the stapes. An aberrant ICA is a very important anomaly to recognize on imaging. Accurately describing its presence is important to help prevent iatrogenic injury during intervention. It is also important to distinguish an aberrant ICA from a lateralized ICA. The improvement of spatial resolution with photon counting detector (PCD)-CT has been proven to provide higher performance in detection of sub-centimeter vascular lesions compared to conventional energy-integrated detector (EID)-CT. PCD-CT also provides superior visualization of small skull-based foramina such as the inferior tympanic canaliculus, which can aid in more accurately characterizing an aberrant ICA (variant course without ITC involvement).</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052357","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172205
Peter Borch-Johnsen, Hanna Dubois, Peter T Schmidt, Jonas Nygren, Gail Dunberger
{"title":"Patients' Experiences of Diagnostic and Therapeutic High-Resolution Endoscopy in Treating Anal Squamous Intraepithelial Lesions: A Qualitative Study.","authors":"Peter Borch-Johnsen, Hanna Dubois, Peter T Schmidt, Jonas Nygren, Gail Dunberger","doi":"10.3390/diagnostics15172205","DOIUrl":"https://doi.org/10.3390/diagnostics15172205","url":null,"abstract":"<p><p><b>Background:</b> Anal squamous cell carcinoma is a rare disease strongly associated with the human papillomavirus (HPV) and preceded by the premalignant anal squamous intraepithelial lesion (ASIL). High-resolution anoscopy (HRA) using a colposcope is considered the gold standard for detecting and managing ASIL. Despite being recommended in current guidelines for anal cancer screening, HRA availability remains limited. Although generally well tolerated, concerns about follow-up adherence persist. We have developed an endoscopic technique using high-resolution flexible endoscopes for detection, resection, and screening of ASIL. Our previous research suggests that this method is effective and gentle, but patients' experiences of this approach remain underexplored. The aim of this study was to explore patients' experiences of endoscopic detection, treatment, and screening of anal squamous intraepithelial lesions. <b>Method:</b> A qualitative approach was used involving semi-structured interviews and abductive qualitative content analysis. The 32-item COREQ checklist guided the reporting of the study. All participants followed a standardized protocol for treatment and follow-up. <b>Results:</b> Analysis of 16 interviews (female <i>n</i> = 7, male <i>n</i> = 9, age 19-72 years) yielded four categories: a comforting encounter in an exposed situation (with four subcategories); impact on intimate relationships (with one subcategory); living with uncertainty (with four subcategories); and physical discomfort (with two subcategories). <b>Conclusions:</b> High-resolution endoscopy is a well-tolerated and effective diagnostic and therapeutic modality for ASIL. However, the psychological impact of HPV-related conditions highlights the need for appropriate psychosocial support. These findings underscore the importance of integrating patient-centered care principles into the implementation of novel diagnostic and therapeutic technologies.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052370","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172210
Dilek Kaçar, Mustafa Altan, Turan Bayhan, Said Furkan Yıldırım, Fatma Burçin Kurtipek, Özlem Arman Bilir, Namık Yaşar Özbek, Neşe Yaralı
{"title":"Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.","authors":"Dilek Kaçar, Mustafa Altan, Turan Bayhan, Said Furkan Yıldırım, Fatma Burçin Kurtipek, Özlem Arman Bilir, Namık Yaşar Özbek, Neşe Yaralı","doi":"10.3390/diagnostics15172210","DOIUrl":"https://doi.org/10.3390/diagnostics15172210","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Inherited platelet disorders (IPDs) are diverse conditions characterized by abnormalities in platelet count and function. Next-Generation Sequencing (NGS) shows promise as a diagnostic tool in the diagnosis of IPDs. This study aims to assess the clinical value and limitations of using a targeted NGS panel in diagnosing children with suspected IPDs. <b>Methods</b>: We conducted a retrospective study of 93 children evaluated for suspected IPDs. A targeted NGS panel of 14 IPD-associated genes (<i>RUNX1</i>, <i>WAS</i>, <i>ADAMTS13</i>, <i>ANKRD26</i>, <i>CYCS</i>, <i>GATA1</i>, <i>GP1BA</i>, <i>GB1BB</i>, <i>GP9</i>, <i>ITGA2B</i>, <i>ITGB3</i>, <i>MASTL</i>, <i>MPL</i>, <i>MYH9</i>) was performed. <b>Results</b>: Genetic variants were identified in 30 patients (32.3% of the cohort). A total of 37 variants, of which 15 (40.5%) were novel, were found across 11 of the 14 genes on the panel (all except <i>MPL</i>, <i>CYCS</i>, and <i>RUNX1</i>). Variants were most frequently found in <i>ITGB3</i> (18.9% of variants), <i>GP1BA</i> (16.2%), and <i>ADAMTS13</i> (16.2%) genes. The majority of variants (64.9%) were classified as variants of uncertain significance (VUS), followed by likely pathogenic (LP) (27%) and pathogenic (8.1%) variants. Most variants were in a heterozygous state (73%). Specific cases highlighted complex genetic scenarios, such as co-occurring variants, and the identification of pathogenic and LP variants in patients initially presenting with immune thrombocytopenia. <b>Conclusions</b>: NGS helps to identify genetic causes, assess risk, manage, and provide genetic counseling in the management of IPDs. However, the prevalence of VUS underscores the need for a multidisciplinary approach to evaluate NGS results accurately.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052215","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172211
Anca Drăgan, Adrian Ştefan Drăgan
{"title":"New Insights in Assessing AKI 3 Risk Factors and Predictors Associated with On-Pump Surgical Aortic Valve Replacement.","authors":"Anca Drăgan, Adrian Ştefan Drăgan","doi":"10.3390/diagnostics15172211","DOIUrl":"https://doi.org/10.3390/diagnostics15172211","url":null,"abstract":"<p><p><b>Background</b>: Acute kidney injury (AKI) following cardiac surgery can lead to chronic kidney disease, increased hospitalization costs, and higher mortality risk. Our retrospective study identified risk factors of severe AKI (AKI 3) in patients undergoing on-pump surgical aortic valve replacement (SAVR). Additionally, we analyzed the significance of inflammatory indexes and risk scores in predicting AKI 3, focusing on sex differences. These findings could provide cost-efficient tools for clinical practice to identify patients at risk, improve preoperative risk stratification, and personalize monitoring. <b>Methods</b>: We reviewed the on-pump SAVR patients from our tertiary center between 2022 and 2024. <b>Results</b>: Out of 422 patients, 121 (28.67%) experienced AKI, including 27 (6.39%) AKI 3 patients. The multivariable binary logistic regression identified AKI 3 independent risk factors: hemostasis reintervention (OR9.76, CI 95%: 3.565-26.716, <i>p</i> = 0.001), early postoperative vasoactive-inotropic score (VIS) (OR1.049, CI 95%: 1.013-1.086, <i>p</i> = 0.007), postoperative lymphocyte (OR2.252, CI 95%: 1.224-4.144, <i>p</i> = 0.009). Preoperative systemic inflammatory response index (AUC0.700, <i>p</i> = 0.019), preoperative aggregate index of systemic inflammation (AUC0.712, <i>p</i> = 0.011), postoperative platelet-to-lymphocyte ratio (PLR) (AUC 0.759, <i>p</i> = 0.001), and the delta value of preoperative-to-postoperative PLR (AUC0.752, <i>p</i> = 0.001) were better predictors of AKI 3 occurrence in female SAVR patients than the additive EuroSCORE (AUC0.692, <i>p</i> = 0.011), but were less accurate compared to EuroSCORE II (AUC0.841, <i>p</i> = 0.001). None of the studied inflammatory indexes or additive EuroSCORE predicted our endpoint in male SAVR patients, while Thakar score was able to predict it exclusively in males. <b>Conclusions</b>: Early postoperative VIS, lymphocyte count, and hemostasis reintervention were independent risk factors for severe AKI in SAVR patients. There is a differentiation between males and females from the AKI prediction perspective.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052189","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172207
David Petrovič, Ajla Mujnović, Adela Hammami, Tjaša Krašovec, Mojca Kirbiš, Spela Stunf Pukl
{"title":"In Vivo Confocal Microscopy of the Cornea in Diagnosing Small Fibre Neuropathy: A Cross-Sectional Observational Study.","authors":"David Petrovič, Ajla Mujnović, Adela Hammami, Tjaša Krašovec, Mojca Kirbiš, Spela Stunf Pukl","doi":"10.3390/diagnostics15172207","DOIUrl":"https://doi.org/10.3390/diagnostics15172207","url":null,"abstract":"<p><p><b>Objectives:</b> The aim of this study was to assess the accuracy of corneal in vivo confocal microscopy (IVCM) in the diagnostic process of small fibre neuropathy (SFN) compared to skin biopsy. <b>Methods:</b> This cross-sectional observational study was performed at the Eye Hospital and Institute of Neurophysiology, University Medical Centre Ljubljana, and included 35 patients with a clinical picture of SFN. All patients underwent a neurological exam that included an SFN questionnaire, standard skin biopsy, and ophthalmological assessment, including corneal IVCM. <b>Results:</b> Skin biopsy confirmed SFN in 14/35 patients (40%). These patients had a significantly shorter corneal nerve fibre length (CNFL) compared to those with negative biopsy (13.67 ± 2.99 mm/mm<sup>2</sup> vs. 16.27 ± 3.54 mm/mm<sup>2</sup>, <i>p</i> = 0.030), as well as reduced corneal nerve branch density (CNBD) (36.68 ± 14.68 branches/mm<sup>2</sup> vs. 48.81 ± 17.83 branches/mm<sup>2</sup>, <i>p</i> = 0.042). CNFL reduction below the 5th percentile was proven in 13/35 patients, yielding 64.3% sensitivity (95% CI: 35.1-87.2%) and 80.9% specificity (95% CI: 58.1-94.6%) compared to skin biopsy. In idiopathic SFN, negative IVCM results aligned with negative biopsies in 90% (95% CI: 55.5-99.8%) of cases. Meanwhile, in secondary SFN, positive IVCM results detected evidence of peripheral neurodegeneration in an additional 27.3% (95% CI: 6-61%) with negative skin biopsy. <b>Conclusion:</b> CNFL reduction in corneal IVCM demonstrated significant diagnostic value for SFN. Since skin biopsy findings do not always correspond with IVCM findings, corneal IVCM could be applied as a complementary tool to standard skin biopsy rather than as a replacement. It might be additionally useful for detecting patchy pattern presentations of SFN, excluding neuropathy in idiopathic SFN, and detecting neuropathy in biopsy-negative secondary SFN. In patients with positive IVCM, it could also be used as a primary tool for follow-up monitoring.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052212","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172208
Concepción Renedo Laguna, Carmen Gómez Martín, Javier Lozano-Sanroma, José Manuel Benítez Del Castillo, Jesús Montero Iruzubieta, Salvador García Delpech, Jesús Merayo-Lloves
{"title":"Functioning and Safety of the Non-Invasive Corneal Esthesiometer Brill: A Multicenter Study.","authors":"Concepción Renedo Laguna, Carmen Gómez Martín, Javier Lozano-Sanroma, José Manuel Benítez Del Castillo, Jesús Montero Iruzubieta, Salvador García Delpech, Jesús Merayo-Lloves","doi":"10.3390/diagnostics15172208","DOIUrl":"https://doi.org/10.3390/diagnostics15172208","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Corneal sensitivity can be decreased by several ocular conditions, including dry eye and refractive surgery, which can lead to ocular epithelial lesions. This decrease can be detected by esthesiometry. The main objective of this study was to evaluate the performance, safety, and efficacy of the Corneal Esthesiometer Brill in healthy subjects without ocular pathologies. <b>Methods</b>: A controlled, randomized, prospective, multicenter pilot clinical study was conducted in adult patients with healthy eyes. Corneal sensitivity measurements were made three times for one eye randomly selected to obtain the corneal sensitivity reference ranges. Additionally, one more measurement was taken after the application of a topical anesthetic. An intra- and inter-observer analysis was performed to assess user dependence, and the last measurement was taken after ocular topical anesthesia to evaluate the device's sensitivity in detecting corneal sensitivity loss. <b>Results</b>: Ninety-one volunteers were included with a mean age of 25 (SD 3.46, range 18-30), and fifty-eight (63.7%) were female. Corneal sensitivity reference levels ranged from level 2 (3-4 mbar) to level 3 (4-5 mbar). Intra- and inter-observer measurement differences on the same subject without anesthesia were not statistically significant. Corneal pressure before and after local ocular anesthesia had statistically significant differences (<i>p</i> < 0.0001). <b>Conclusions</b>: The Corneal Esthesiometer Brill yielded consistent and reproducible measurements in young volunteers with healthy eyes, enabling objective, observer-independent use and facilitating the detection of significant loss of sensitivity.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052264","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172204
Yunguo Yu, Cesar A Gomez-Cabello, Syed Ali Haider, Ariana Genovese, Srinivasagam Prabha, Maissa Trabilsy, Bernardo G Collaco, Nadia G Wood, Sanjay Bagaria, Cui Tao, Antonio J Forte
{"title":"Enhancing Clinician Trust in AI Diagnostics: A Dynamic Framework for Confidence Calibration and Transparency.","authors":"Yunguo Yu, Cesar A Gomez-Cabello, Syed Ali Haider, Ariana Genovese, Srinivasagam Prabha, Maissa Trabilsy, Bernardo G Collaco, Nadia G Wood, Sanjay Bagaria, Cui Tao, Antonio J Forte","doi":"10.3390/diagnostics15172204","DOIUrl":"https://doi.org/10.3390/diagnostics15172204","url":null,"abstract":"<p><p><b>Background:</b> Artificial Intelligence (AI)-driven Decision Support Systems (DSSs) promise improvements in diagnostic accuracy and clinical workflow efficiency, but their adoption is hindered by inadequate confidence calibration, limited transparency, and poor alignment with real-world decision processes, which limit clinician trust and lead to high override rates. <b>Methods:</b> We developed and validated a dynamic scoring framework to enhance trust in AI-generated diagnoses by integrating AI confidence scores, semantic similarity measures, and transparency weighting into the override decision process using 6689 cardiovascular cases from the MIMIC-III dataset. Override thresholds were calibrated and validated across varying transparency and confidence levels, with override rate as the primary acceptance measure. <b>Results:</b> The implementation of this framework reduced the override rate to 33.29%, with high-confidence predictions (90-99%) overridden at a rate of only 1.7%, and low-confidence predictions (70-79%) at a rate of 99.3%. Minimal transparency diagnoses had a 73.9% override rate compared to 49.3% for moderate transparency. Statistical analyses confirmed significant associations between confidence, transparency, and override rates (<i>p</i> < 0.001). <b>Conclusions:</b> These findings suggest that enhanced transparency and confidence calibration can substantially reduce override rates and promote clinician acceptance of AI diagnostics. Future work should focus on clinical validation to optimize patient safety, diagnostic accuracy, and efficiency.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052365","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}
DiagnosticsPub Date : 2025-08-30DOI: 10.3390/diagnostics15172209
Juan Luis Rodríguez Hermosa, Soha Esmaili, Iman Esmaili, Myriam Calle Rubio, Carla Novoa García
{"title":"Decoding Diagnostic Delay in COPD: An Integrative Analysis of Missed Opportunities, Clinical Risk Profiles, and Targeted Detection Strategies in Primary Care.","authors":"Juan Luis Rodríguez Hermosa, Soha Esmaili, Iman Esmaili, Myriam Calle Rubio, Carla Novoa García","doi":"10.3390/diagnostics15172209","DOIUrl":"https://doi.org/10.3390/diagnostics15172209","url":null,"abstract":"<p><p><b>Background</b>: Delayed diagnosis of Chronic Obstructive Pulmonary Disease (COPD) in primary care is common and contributes to preventable morbidity. A deeper understanding of pre-diagnostic patterns is needed to develop targeted detection strategies. We aimed to characterize diagnostic delay and missed diagnostic opportunities (MDOs) and identify high-risk clinical profiles. <b>Methods</b>: We conducted a retrospective cohort study of 167 patients newly diagnosed with COPD in primary care centers in Madrid, Spain. Healthcare utilization in the 12 months preceding diagnosis was analyzed. Multivariable logistic regression was used to identify predictors of MDOs, and K-means clustering was used to identify patient phenotypes. <b>Results</b>: Diagnostic delay (>30 days) was present in 45.5% of patients, and MDOs in 47.3%. MDO-positive patients had significantly worse lung function (mean FEV<sub>1</sub>: 1577 vs. 1898 mL, <i>p</i> = 0.008), greater symptom burden (CAT score ≥ 10: 79.7% vs. 59.1%, <i>p</i> = 0.003), and more frequent pre-diagnostic exacerbations (mean: 1.24 vs. 0.71, <i>p</i> = 0.032). After multivariable adjustment, diagnostic delay remained a powerful independent predictor of MDOs (OR 10.25, 95% CI 4.39-24.88; <i>p</i> < 0.001). Cluster analysis identified three distinct clinical phenotypes: 'Paucisymptomatic-Preserved', 'Frequent Attenders/High-Risk', and 'Silent Decliners'. <b>Conclusions</b>: The pre-diagnostic period in COPD is a dynamic window of detectable, and potentially preventable, clinical deterioration driven by diagnostic inertia. The identification of distinct patient phenotypes suggests that a proactive, stratified, and personalized approach, rather than a one-size-fits-all strategy, is required to improve early diagnosis in primary care.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052006","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":"The Impacts of Enlarged Subarachnoid Space on Brain Growth and Cortex Maturation in Very Preterm Infants.","authors":"Liangbing Wang, Yubo Zhuo, Fang Lin, Xueqing Wan, Guohui Yang, Jianlong He","doi":"10.3390/diagnostics15172206","DOIUrl":"https://doi.org/10.3390/diagnostics15172206","url":null,"abstract":"<p><p><b>Objectives:</b> The aim of this study is to investigate the changes in quantitative indices of brain volume and cortex development in preterm infants with enlarged subarachnoid space (ESS). <b>Methods:</b> A single-center retrospective cohort study was performed in Hong Kong University-Shenzhen Hospital from November 2014 to November 2023, involving 200 preterm infants whose brain MRI images were available. Parameters including the volume of cerebrospinal fluid (CSF), brain tissues, total intracranial cavity (ICC), and key indices of cortex maturation (surface area, cortical thickness, cortical volume, mean curvature) were compared between the groups with ESS and without ESS. The retrospective nature of this study may introduce selection bias in the process of enrolling preterm infants with ESS. <b>Results:</b> The groups with severe and mild ESS had a significantly greater ICC volume than the group without ESS (severe: 384.66 ± 30.33 [<i>p</i> < 0.001]; mild: 374.25 ± 26.45 [<i>p</i> < 0.001] vs. no ESS: 356.78 ± 26.03), and the difference was mostly due to the gap in extra-CSF volume among the three groups (severe: 74.20 ± 5.1 and mild: 55.36 ± 3.8 vs. no ESS: 40.54 ± 4.3, <i>p</i> ≤ 0.001). Only the volume of parenchyma of the severe-ESS group was significantly different (severe: 302.35 ± 26.43 vs. no ESS: 312.27 ± 20.75, <i>p</i> = 0.003). Regarding indices of cortex maturation, only the mean curvature showed a significant difference between the three groups, and most of the significant clusters were located around the parietal and temporal lobes. <b>Conclusions:</b> ESS may be associated with impaired early brain maturation in preterm infants after birth. A further neurodevelopmental follow-up study is needed.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 17","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052364","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}