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Search Results (2,631)

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11 pages, 542 KB  
Review
Spondylolysis: A Narrative Review of Etiology, Diagnosis, and Management
by Vanessa Madden, Adam Ayoub, Jonathan Thomas and Ian Thomas
Int. J. Environ. Res. Public Health 2026, 23(2), 153; https://doi.org/10.3390/ijerph23020153 - 26 Jan 2026
Abstract
Background: Spondylolysis is a stress fracture of the pars interarticularis, most common in adolescents and athletes involved in sports requiring repetitive spinal loading, extension, and rotation. The condition is often underdiagnosed due to delays in presentation and diagnosis, particularly among non-orthopedic providers. Aims: [...] Read more.
Background: Spondylolysis is a stress fracture of the pars interarticularis, most common in adolescents and athletes involved in sports requiring repetitive spinal loading, extension, and rotation. The condition is often underdiagnosed due to delays in presentation and diagnosis, particularly among non-orthopedic providers. Aims: This review aims to summarize the current understanding of spondylolysis, focusing on its etiology, diagnosis, management strategies, and identify gaps in research for future exploration. Methods: A structured literature search was conducted in PubMed to identify studies relevant to pediatric and adolescent spondylolysis, spondylosis, and spondylolisthesis, particularly in the context of athletic injuries. The initial search yielded 143 citations. Applying filters for English language publications within the past five years reduced this to 125 citations. Limiting to populations that were aged 18 years and under returned 50 studies. After screening the titles and abstracts, 12 non-specific or irrelevant articles (including letters to the editor) were excluded, leaving a final dataset of 38 articles for detailed review. In addition, foundational and landmark studies outside this window were included to provide historical and conceptual context, bringing the total evidence base to 50 papers. Findings: Spondylolysis most commonly affects the L5 vertebra, with a higher incidence in male athletes. Conservative treatments like physical therapy and bracing are effective, especially when initiated early. However, the efficacy of bracing remains debated, with limited evidence on long-term clinical benefits. Surgical intervention is considered for severe or non-responsive cases. Diagnostic methods, including CT and MRI, are preferred, with emerging techniques like ultrasound showing potential for non-ionizing, cost-effective, early detection. Implications: Early diagnosis and treatment are crucial for preventing progression to spondylolisthesis. While conservative treatments often yield favorable outcomes, more research is needed to compare the effectiveness of bracing and pharmacological interventions. Future studies should focus on long-term outcomes, cost-effective, non-ionizing diagnostic methods, and the role of emerging therapies like regenerative medicine. A multi-disciplinary approach is vital for optimal patient care, particularly in young athletes. Full article
(This article belongs to the Special Issue Sports-Related Injuries in Children and Adolescents)
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11 pages, 710 KB  
Article
Improving Diagnostic Accuracy for Surgical Pelvic Organ Prolapse: A Sequential Protocol Combining POP-Q Examination and Transperineal Ultrasound
by José Antonio García-Mejido, Ana Hurtado-Guijosa, Ana Fernández-Palacín, Fernando Fernández-Palacín, Fernando Bugatto and José Antonio Sainz-Bueno
J. Clin. Med. 2026, 15(3), 979; https://doi.org/10.3390/jcm15030979 (registering DOI) - 26 Jan 2026
Abstract
Background/Objectives: The POP-Q system is conventionally used to evaluate pelvic organ prolapse (POP). Nevertheless, differences between clinical examination and intraoperative findings can hinder appropriate surgical planning. We aimed to assess the accuracy of a sequential protocol involving clinical POP-Q assessment and, in cases [...] Read more.
Background/Objectives: The POP-Q system is conventionally used to evaluate pelvic organ prolapse (POP). Nevertheless, differences between clinical examination and intraoperative findings can hinder appropriate surgical planning. We aimed to assess the accuracy of a sequential protocol involving clinical POP-Q assessment and, in cases of uncertain diagnosis, transperineal ultrasound. Methods: We conducted a prospective observational study with 314 women scheduled for POP surgery from January 2021 to December 2024. A pelvic floor specialist assessed all patients using the POP-Q system. Transperineal ultrasound was carried out only when the clinical diagnosis remained uncertain. We compared the accuracy of this sequential approach (POP-Q ± ultrasound) versus POP-Q alone, using intraoperative findings as the gold standard. Sensitivity and specificity were determined for each type of prolapse. Results: Of the 314 patients, 181 (57.6%) had a definitive diagnosis with POP-Q alone, whereas 133 (42.4%) required additional ultrasound. In these uncertain cases, the addition of ultrasound significantly increased sensitivity for cystocele (by 0.5–11.3%), uterine prolapse (45.5–63.7%), cervical elongation (5.2–21.4%), rectocele (5.7–16.4%), and enterocele (58.7–74.7%) (all p < 0.05). Specificity also improved for uterine prolapse, cervical elongation, and rectocele. The sequential protocol’s performance in uncertain cases was comparable to clinical examination in straightforward cases. Conclusions: Applying a sequential protocol that adds transperineal ultrasound for unclear cases significantly increases diagnostic precision for surgical POP, potentially optimizing surgical planning. Full article
(This article belongs to the Special Issue Recent Clinical Advances in Pelvic Organ Prolapse)
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7 pages, 1106 KB  
Case Report
Imaging-Based Diagnosis of a Ruptured Isolated Dissecting Abdominal Aortic Aneurysm: A Case Report
by Marija Varnicic Lojanica, Nikola Milic, Sretina Jovanovic, Milica Ivanovic and Stefan Ivanovic
Reports 2026, 9(1), 35; https://doi.org/10.3390/reports9010035 - 24 Jan 2026
Viewed by 48
Abstract
Background and Clinical Significance: Acute aortic dissection is the most common and most severe manifestation of acute aortic syndrome. An isolated dissecting aneurysm of the abdominal aorta is defined as a dissecting aneurysm distal to the diaphragm and is an extremely rare disease. [...] Read more.
Background and Clinical Significance: Acute aortic dissection is the most common and most severe manifestation of acute aortic syndrome. An isolated dissecting aneurysm of the abdominal aorta is defined as a dissecting aneurysm distal to the diaphragm and is an extremely rare disease. Detection of an intimal flap between two lumens using different imaging methods is a definitive diagnostic sign of aortic dissection. A number of studies have validated ultrasound, including point-of-care ultrasound, as the standard initial imaging modality for the diagnosis of aortic dissection. Case Presentation: We present a 39-year-old patient who was sent to our institution under the suspicion of renal colic. The clinical findings revealed pale discoloration of the skin with sweating and abdominal pain. An emergency ultrasound showed an abdominal aortic aneurysm with an intimal flap, as well as free perirenal fluid on the left side. Multislice computed tomography aortography was then performed and the findings indicated rupture of a dissecting aneurysm of the abdominal aorta with a large retroperitoneal hematoma. The patient was then sent to a tertiary institution where he underwent emergency surgery and successfully recovered. Conclusions: Isolated abdominal aortic dissection is a rare condition with often non-specific clinical presentation, making imaging crucial for diagnosis. Ultrasound plays an important role as an initial imaging modality, as the detection of direct or indirect signs of dissection enables timely referral for CT aortography, confirmation of the diagnosis, and initiation of appropriate treatment. Full article
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16 pages, 872 KB  
Review
Multimodality Imaging Approach in Diagnosis and Follow-Up of Aortic Coarctation in Adulthood
by Lucia La Mura, Luigi Mannacio, Federica Illuminato, Marco Ferrone, Maria Lembo, Saverio D’Elia, Carmine Izzo, Ciro Santoro and Raffaele Izzo
J. Clin. Med. 2026, 15(3), 949; https://doi.org/10.3390/jcm15030949 (registering DOI) - 24 Jan 2026
Viewed by 45
Abstract
Aortic coarctation (CoA) comprises local narrowing of the aortic lumen, which is located at the level of the isthmus in 95% of patients and accounts for 5 to 8% of live births with congenital heart disease. It can be associated with other congenital [...] Read more.
Aortic coarctation (CoA) comprises local narrowing of the aortic lumen, which is located at the level of the isthmus in 95% of patients and accounts for 5 to 8% of live births with congenital heart disease. It can be associated with other congenital defects, such as a bicuspid aortic valve (BAV), and in adulthood should be considered a secondary cause of hypertension in patients younger than 40 years, particularly in the presence of severe or resistant hypertension, in accordance with current hypertension guidelines. A correct diagnosis is necessary for the proper assessment and management of these patients. A multimodality imaging approach using ultrasound, computed tomography (CT), and MRI allows for accurate and effective diagnosis. The purpose of this review is to describe different non-invasive imaging techniques and highlight their advantages and disadvantages, aiming to provide a guide to clinicians and cardiovascular imaging specialists in choosing the best imaging tools to use in adults with native CoA. Full article
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11 pages, 1701 KB  
Article
Morphological Analysis and Short-Term Evolution in Pulmonary Infarction Ultrasound Imaging: A Pilot Study
by Chiara Cappiello, Elisabetta Casto, Alessandro Celi, Camilla Tinelli, Francesco Pistelli, Laura Carrozzi and Roberta Pancani
Diagnostics 2026, 16(3), 383; https://doi.org/10.3390/diagnostics16030383 - 24 Jan 2026
Viewed by 41
Abstract
Background: Pulmonary infarction (PI) is the result of the occlusion of distal pulmonary arteries resulting in damage to downstream lung areas that become ischemic, hemorrhagic, or necrotic, and it is often a complication of an underlying condition such as pulmonary embolism (PE). Since [...] Read more.
Background: Pulmonary infarction (PI) is the result of the occlusion of distal pulmonary arteries resulting in damage to downstream lung areas that become ischemic, hemorrhagic, or necrotic, and it is often a complication of an underlying condition such as pulmonary embolism (PE). Since in most of cases it is located peripherally, lung ultrasound (LUS) can be a good evaluation tool. The typical radiological features of PI are well-known; however, there are limited data on its sonographic characteristics and its evolution. Methods: The aim of this study is to evaluate, using LUS, a convenience sample of patients with acute PE with computed tomography (CT) consolidation findings consistent with PI. Patients’ clinical characteristics were collected and LUS findings at baseline and their short-term progression was assessed. LUS was performed within 72 h of PE diagnosis (T0) and repeated after one (T1) and four weeks (T2). Each procedure started with a focused examination of the areas of lesions based on CT findings, followed by an exploration of the other posterior and lateral lung fields. The convex probe was used for initial evaluation integrating LUS evaluation with the linear one was employed for smaller and more superficial lesions and when appropriate. Color Doppler mode was added to study vascularization. Results: From June to October 2023, 14 consecutive patients were enrolled at the Respiratory Unit of the University Hospital of Pisa. The main population characteristics included the absence of respiratory failure and prognostic high-risk PE (100%), the absence of significant comorbidities (79%), and the presence of typical symptoms, such as chest pain (57%) and dyspnea (50%). The average number of consolidations per patient was 1.4 ± 0.6. Follow-up LUS showed the disappearance of some consolidations and some morphological changes in the remaining lesions: the presence of hypoechoic consolidation with a central hyperechoic area (“bubbly consolidation”) was more typical at T1 while the presence of a small pleural effusion often persisted both at T1 and T2. A decrease in wedge/triangular-shaped consolidations was observed (82% at T0, 67% at T1, 24% at T2), as was an increase in elongated shapes, representing a residual pleural thickening over time (9% at T0, 13% at T1, 44% at T2). A reduction in size was also observed by comparing the mean diameter, long axis, and short axis measurements of each consolidation at the three different studied time points: the average of the short axes and the median of the mean diameters showed a statistically significant reduction after four weeks. Additionally, a correlation between lesion size and pleuritic pain was described, although it did not achieve statistical significance. Conclusions: Patients’ clinical characteristics and ultrasound features are consistent with previous studies studying PI at PE diagnosis. Most consolidations detected by LUS change over time regarding size and form, but a minority of them do not differ. LUS is a safe and non-invasive exam that could help to improve patients’ clinical approach in emergency rooms as well as medical and pulmonology settings, clinically contextualized for cases of chest pain and dyspnea. Future studies could expand the morphological study of PI. Full article
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17 pages, 1273 KB  
Systematic Review
The Role of Ultrasound in the Diagnosis and Treatment of Cellulite: A Systematic Review
by Dora Intagliata and Maria Luisa Garo
J. Clin. Med. 2026, 15(3), 943; https://doi.org/10.3390/jcm15030943 (registering DOI) - 23 Jan 2026
Viewed by 58
Abstract
Background: Cellulite is a highly prevalent condition with dermal and subcutaneous alterations poorly captured by visual grading systems. Ultrasound has emerged as a non-invasive imaging modality capable of objectively quantifying morphological features relevant to cellulite. This systematic review evaluated the evidence on [...] Read more.
Background: Cellulite is a highly prevalent condition with dermal and subcutaneous alterations poorly captured by visual grading systems. Ultrasound has emerged as a non-invasive imaging modality capable of objectively quantifying morphological features relevant to cellulite. This systematic review evaluated the evidence on ultrasound for the diagnosis, structural characterization, and treatment monitoring of cellulite, identifying methodological limitations and research gaps. Methods: This systematic review (PROSPERO:CRD420251185486) followed the PRISMA statement. Searches were conducted in PubMed, Scopus, and CENTRAL up to November 2025. Risk of bias was evaluated using ROBINS-I and the Newcastle–Ottawa Scale. Results: Nine studies involving 785 participants were included. Ultrasound frequencies ranged from 12 to 35 MHz, with some scanners operating across broader bandwidths. Despite variability in devices, acquisition protocols, and clinical comparators, all studies consistently demonstrated that ultrasound quantifies key structural characteristics of cellulite. Diagnostic investigations reported moderate-to-strong correlations (r ≈ 0.31–0.64) between ultrasound-derived measures and clinical severity scores. Interventional studies showed measurable reductions in dermal and subcutaneous thickness, decreased adipose protrusion height, and improved dermal echogenicity across multiple treatment modalities. Ultrasound frequently detected microstructural remodeling not readily visible on clinical examination. Conclusions: Ultrasound is a valuable imaging modality for objectively characterizing cellulite and monitoring treatment-induced tissue remodeling. Standardized acquisition protocols, validated analytic criteria, and larger controlled studies are needed to support integration into routine dermatologic and esthetic practice. The quantitative and reproducible nature of ultrasound-derived parameters also provides a suitable foundation for future integration with data-driven and artificial intelligence–based image analysis frameworks. Full article
(This article belongs to the Special Issue Artificial Intelligence and Deep Learning in Medical Imaging)
16 pages, 1428 KB  
Article
StrDiSeg: Adapter-Enhanced DINOv3 for Automated Ischemic Stroke Lesion Segmentation
by Qiong Chen, Donghao Zhang, Yimin Chen, Siyuan Zhang, Yue Sun, Fabiano Reis, Li M. Li, Li Yuan, Huijuan Jin and Wu Qiu
Bioengineering 2026, 13(2), 133; https://doi.org/10.3390/bioengineering13020133 - 23 Jan 2026
Viewed by 120
Abstract
Deep vision foundation models such as DINOv3 offer strong visual representation capacity, but their direct deployment in medical image segmentation remains difficult due to the limited availability of annotated clinical data and the computational cost of full fine-tuning. This study proposes an adaptation [...] Read more.
Deep vision foundation models such as DINOv3 offer strong visual representation capacity, but their direct deployment in medical image segmentation remains difficult due to the limited availability of annotated clinical data and the computational cost of full fine-tuning. This study proposes an adaptation framework called StrDiSeg that integrates lightweight bottleneck adapters between selected transformer layers of DINOv3, enabling task-specific learning while preserving pretrained knowledge. An attention-enhanced U-Net decoder with multi-scale feature fusion further refines the representations. Experiments were performed on two publicly available ischemic stroke lesion segmentation datasets—AISD (Non Contrast CT) and ISLES22 (DWI). The proposed method achieved Dice scores of 0.516 on AISD and 0.824 on ISLES22, outperforming baseline models and demonstrating strong robustness across different clinical imaging modalities. These results indicate that adapter-based fine-tuning provides a practical and computationally efficient strategy for leveraging large pretrained vision models in medical image segmentation. Full article
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13 pages, 291 KB  
Article
Bioelectrical Impedance and GLIM Criteria Identify Early Nutritional Deterioration and Mortality in Acute Leukemia Patients Undergoing Chemotherapy
by Lara Dalla Rovere, María José Tapia Guerrero, Viyey K. Doulatram-Gamgaram, María Garcia-Olivares, Belén del Arco-Romualdo, Montserrat Gonzalo-Marín, María Rosario Vallejo Mora, Daniel Barrios Decoud, Carola Díaz Aizpún, Francisco José Sánchez-Torralvo, Cristina Herola-Cobos, Carmen Hardy-Añón, Agustín Hernandez-Sanchez, José Manuel García-Almeida and Gabriel Olveira
Nutrients 2026, 18(3), 374; https://doi.org/10.3390/nu18030374 - 23 Jan 2026
Viewed by 81
Abstract
Background/Objectives: Malnutrition is highly prevalent in patients with acute leukemia and is frequently underrecognized at diagnosis. Traditional screening tools based on anthropometry often fail to identify early nutritional deterioration. This study aimed to evaluate the prognostic utility of a comprehensive morphofunctional assessment—including bioelectrical [...] Read more.
Background/Objectives: Malnutrition is highly prevalent in patients with acute leukemia and is frequently underrecognized at diagnosis. Traditional screening tools based on anthropometry often fail to identify early nutritional deterioration. This study aimed to evaluate the prognostic utility of a comprehensive morphofunctional assessment—including bioelectrical impedance vector analysis (BIVA), handgrip strength (HGS), and muscle ultrasound—conducted at diagnosis and after induction therapy, to evaluate the prognostic association with 12-month mortality. Methods: In this prospective cohort study, 52 adult patients with newly diagnosed acute leukemia were enrolled between November 2022 and November 2024 at two tertiary hospitals in Málaga, Spain. Nutritional status was determined using GLIM criteria. Morphofunctional assessment included BIVA-derived phase angle (PhA), HGS via dynamometry, and rectus femoris ultrasound. A second evaluation was performed prior to haematopoietic stem cell transplantation. Mortality at 12 months was the primary outcome. Logistic regression and ROC analysis were used to assess prognostic associations. Results: At baseline, 65.4% of patients were classified as malnourished. After three months, patients showed significant declines in PhA (−0.55°, p < 0.001), body cell mass (−3.15 kg, p < 0.01), skeletal muscle mass (−1.66 kg, p < 0.01), and rectus femoris cross-sectional area (−0.36 cm2, p = 0.011). Baseline malnutrition (OR = 6.88; 95% CI: 1.17–40.38; p = 0.033) and PhA decline ≥ 0.90° were both independently associated with higher 12-month mortality. Conclusions: Early morphofunctional assessment using GLIM criteria, BIVA, and muscle ultrasound identifies patients at nutritional and functional risk. PhA decline during treatment was associated with higher 12-month mortality, supporting the need for early, personalized nutritional intervention in leukemia care. Full article
(This article belongs to the Section Clinical Nutrition)
45 pages, 2071 KB  
Systematic Review
Artificial Intelligence Techniques for Thyroid Cancer Classification: A Systematic Review
by Yanche Ari Kustiawan, Khairil Imran Ghauth, Sakina Ghauth, Liew Yew Toong and Sien Hui Tan
Mach. Learn. Knowl. Extr. 2026, 8(2), 27; https://doi.org/10.3390/make8020027 - 23 Jan 2026
Viewed by 266
Abstract
Artificial intelligence (AI), particularly machine learning and deep learning architectures, has been widely applied to support thyroid cancer diagnosis, but existing evidence on its performance and limitations remains scattered across techniques, tasks, and data types. This systematic review synthesizes recent work on knowledge [...] Read more.
Artificial intelligence (AI), particularly machine learning and deep learning architectures, has been widely applied to support thyroid cancer diagnosis, but existing evidence on its performance and limitations remains scattered across techniques, tasks, and data types. This systematic review synthesizes recent work on knowledge extraction from heterogeneous imaging and clinical data for thyroid cancer diagnosis and detection published between 2021 and 2025. We searched eight major databases, applied predefined inclusion and exclusion criteria, and assessed study quality using the Newcastle–Ottawa Scale. A total of 150 primary studies were included and analyzed with respect to AI techniques, diagnostic tasks, imaging and non-imaging modalities, model generalization, explainable AI, and recommended future directions. We found that deep learning, particularly convolutional neural networks, U-Net variants, and transformer-based models, dominated recent work, mainly for ultrasound-based benign–malignant classification, nodule detection, and segmentation, while classical machine learning, ensembles, and advanced paradigms remained important in specific structured-data settings. Ultrasound was the primary modality, complemented by cytology, histopathology, cross-sectional imaging, molecular data, and multimodal combinations. Key limitations included diagnostic ambiguity, small and imbalanced datasets, limited external validation, gaps in model generalization, and the use of largely non-interpretable black-box models with only partial use of explainable AI techniques. This review provides a structured, machine learning-oriented evidence map that highlights opportunities for more robust representation learning, workflow-ready automation, and trustworthy AI systems for thyroid oncology. Full article
(This article belongs to the Section Thematic Reviews)
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16 pages, 1236 KB  
Review
Pancreatic Metastases from Clear Cell Renal Cell Carcinoma: Diagnostic Insights from Endoscopic Ultrasound-Guided Fine-Needle Biopsy
by Alexandru Constantinescu, Ion Dina, Maria Nedelcu, Vlad Dumitru Băleanu, Vasile Florescu, Laura Enache, Octavian Andronic, Daniel Voiculescu and Ancuța Năstac
Medicina 2026, 62(2), 239; https://doi.org/10.3390/medicina62020239 - 23 Jan 2026
Viewed by 93
Abstract
Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer, accounting for approximately 75–80% of all renal carcinomas, and is often diagnosed incidentally on abdominal imaging, such as abdominal ultrasound or CT scan. Among other types of renal cancer, [...] Read more.
Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer, accounting for approximately 75–80% of all renal carcinomas, and is often diagnosed incidentally on abdominal imaging, such as abdominal ultrasound or CT scan. Among other types of renal cancer, ccRCC is recognized to be highly aggressive due to its metastatic potential, which leads to a poor prognosis and an increased mortality rate. The most common sites of ccRCC metastasis are the lung, lymph nodes, bone, liver, and adrenal glands. Clear cell RCC is the most frequent primary tumor associated with secondary pancreatic involvement, while overall, pancreatic metastases represent only 2–5% of all malignant pancreatic lesions. These metastases often occur many years after nephrectomy and may present as solitary or oligometastatic disease, frequently displaying a paradoxically favorable prognosis compared with other metastatic sites. The present narrative review we conducted emerged from presentations of ccRCC with pancreatic distant metastases, potentially labeled as primary pancreatic tumors on imaging studies, mimicking pancreatic neuroendocrine tumors due to the hypervascular nature of ccRCC. Four patients were investigated in our clinic for suspicious pancreatic lesions identified on CT imaging, involving both the head and body of the pancreas. The definitive diagnosis was established by performing endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) or fine-needle biopsy (FNB) and histopathological analysis of the collected tissue samples. Endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) has emerged as a pivotal tool for obtaining tissue diagnosis, particularly when cross-sectional imaging is inconclusive. Through a synthesis of clinical data and literature, this article underscores the essential diagnostic role of EUS-guided tissue acquisition and its impact on therapeutic decision-making. Full article
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23 pages, 1029 KB  
Review
Perianal Crohn’s Disease in Inflammatory Bowel Disease: Diagnosis, Assessment and Treatment
by Ilaria Faggiani, Isabel Lagos Villaseca, Ferdinando D’Amico, Federica Furfaro, Alessandra Zilli, Sara Massironi, Tommaso Lorenzo Parigi, Virginia Solitano, Clelia Cicerone, Laurent Peyrin-Biroulet, Silvio Danese and Mariangela Allocca
Life 2026, 16(1), 182; https://doi.org/10.3390/life16010182 - 22 Jan 2026
Viewed by 62
Abstract
Perianal fistulizing Crohn’s disease (pfCD) represents one of the most challenging manifestations of CD, often associated with severe phenotypes, refractory luminal inflammation, and a substantial reduction in quality of life. Its pathogenesis is multifactorial and incompletely understood, involving genetic susceptibility, epithelial and stromal [...] Read more.
Perianal fistulizing Crohn’s disease (pfCD) represents one of the most challenging manifestations of CD, often associated with severe phenotypes, refractory luminal inflammation, and a substantial reduction in quality of life. Its pathogenesis is multifactorial and incompletely understood, involving genetic susceptibility, epithelial and stromal dysfunction, and microbiome-related mechanisms. Diagnosis and monitoring rely on advanced imaging, while management requires coordinated medical–surgical strategies. Significant unmet needs persist regarding standardized treatment targets, optimal imaging follow-up, and personalized therapeutic pathways. In this review, we aim to summarise and provide a comprehensive overview of the most recent evidence across pathogenesis, diagnosis, classification systems, and therapeutic approaches in pfCD. We highlight key advances in understanding epithelial–mesenchymal transition, immune–microbiome interactions, and genetic determinants of disease behaviour. Improvements in diagnostic modalities—including MRI-based scores, ultrasound technologies, volumetric assessment, and AI-enhanced imaging—are discussed alongside modern classification systems such as TOPClass. Evidence guiding medical therapy, seton management, and surgical decision-making is reviewed, emphasising integrated, goal-oriented care. Despite substantial progress, pfCD remains a difficult-to-treat condition with persistent gaps in early diagnosis, objective monitoring, and individualized management. Emerging imaging technologies, standardized treatment targets, and structured classification frameworks offer promising strategies to overcome current limitations and improve long-term outcomes. Full article
(This article belongs to the Section Medical Research)
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16 pages, 901 KB  
Review
Biomarkers in Rheumatoid Arthritis: From Traditional Serology to Precision Medicine Integration
by Muhammad Soyfoo and Julie Sarrand
Diagnostics 2026, 16(2), 330; https://doi.org/10.3390/diagnostics16020330 - 20 Jan 2026
Viewed by 214
Abstract
The biomarker landscape in rheumatoid arthritis (RA) is evolving from reliance on traditional markers toward integrated, multimodal strategies enabling precision medicine approaches. To critically evaluate emerging biomarkers across serological, cellular, genetic, imaging, and multi-omic domains, distinguishing those approaching clinical readiness from those requiring [...] Read more.
The biomarker landscape in rheumatoid arthritis (RA) is evolving from reliance on traditional markers toward integrated, multimodal strategies enabling precision medicine approaches. To critically evaluate emerging biomarkers across serological, cellular, genetic, imaging, and multi-omic domains, distinguishing those approaching clinical readiness from those requiring further development. In this study, a narrative review of the literature published between 2000 and 2024 relevant to clinical decision-making in RA was conducted. Among novel serological markers, 14-3-3η protein and anti-carbamylated protein antibodies show the strongest validation for seronegative disease and prognostic stratification. Calprotectin demonstrates utility for disease activity monitoring and de-escalation decisions. Multi-biomarker disease activity scores provide an objective assessment but lack outcome trial validation. Musculoskeletal ultrasound offers accessible imaging biomarker capability, while MRI bone marrow edema remains the strongest structural progression predictor. Synovial tissue pathotyping has demonstrated proof-of-concept for treatment stratification. Genetic, epigenetic, and metabolomic approaches remain investigational. Key clinical implications include using 14-3-3η and calprotectin to inform seronegative diagnosis and de-escalation decisions, integrating ultrasound for remission verification, and recognizing that emerging biomarkers for extra-articular complications, including cardiovascular risk and venous thromboembolism, represent important unmet needs. Full article
(This article belongs to the Special Issue Clinical Prognostic and Predictive Biomarkers, Third Edition)
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20 pages, 8243 KB  
Review
Advances in the Diagnosis and Management of High-Risk Cardiovascular Conditions: Biomarkers, Intracoronary Imaging, Artificial Intelligence, and Novel Anticoagulants
by Clarissa Campo Dall’Orto, Rubens Pierry Ferreira Lopes, Gilvan Vilella Pinto, Pedro Gabriel Senger Braga and Marcos Raphael da Silva
J. Cardiovasc. Dev. Dis. 2026, 13(1), 52; https://doi.org/10.3390/jcdd13010052 - 19 Jan 2026
Viewed by 197
Abstract
Understanding thrombosis in acute coronary syndromes (ACSs) has evolved through advances in biomarkers, intracoronary imaging, and emerging analytical tools, improving diagnostic accuracy and risk stratification in high-risk patients. This narrative review provides an integrative overview of contemporary evidence from clinical trials, meta-analyses, and [...] Read more.
Understanding thrombosis in acute coronary syndromes (ACSs) has evolved through advances in biomarkers, intracoronary imaging, and emerging analytical tools, improving diagnostic accuracy and risk stratification in high-risk patients. This narrative review provides an integrative overview of contemporary evidence from clinical trials, meta-analyses, and international guidelines addressing circulating biomarkers, intracoronary imaging modalities—including optical coherence tomography (OCT), intravascular ultrasound (IVUS), and near-infrared spectroscopy (NIRS)—artificial intelligence–based analytical approaches, and emerging antithrombotic therapies. High-sensitivity cardiac troponins and natriuretic peptides remain the most robust and guideline-supported biomarkers for diagnosis and prognostic assessment in ACS, whereas inflammatory markers and multimarker strategies offer incremental prognostic information but lack definitive validation for routine therapeutic guidance. Intracoronary imaging with IVUS or OCT is supported by current guidelines to guide percutaneous coronary intervention in selected patients with ACS and complex coronary lesions, leading to improved procedural optimization and clinical outcomes compared with angiography-guided strategies. Beyond procedural guidance, OCT enables detailed plaque characterization and mechanistic insights into ACS, while NIRS provides complementary information on lipid-rich plaque burden, primarily for risk stratification based on observational evidence. Artificial intelligence represents a rapidly evolving tool for integrating clinical, laboratory, and imaging data, with promising results in retrospective and observational studies; however, its clinical application in thrombosis management remains investigational due to the lack of outcome-driven randomized trials. In the therapeutic domain, factor XI inhibitors have demonstrated favorable safety profiles with reduced bleeding and preserved antithrombotic efficacy in phase II and early phase III studies, but their definitive role in ACS management awaits confirmation in large, outcome-driven randomized trials. Overall, the integration of biomarkers, intracoronary imaging, and emerging analytical and pharmacological strategies highlights the potential for more individualized cardiovascular care. Nevertheless, careful interpretation of existing evidence, rigorous validation, and alignment with guideline-directed practice remain essential before widespread clinical adoption. Full article
(This article belongs to the Special Issue Advances in Thrombosis Diagnosis and Antithrombotic Therapy)
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14 pages, 377 KB  
Article
Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction
by Libing Luo, Chunchun Chen, Cindy Ka Yee Cheung, Yanyan Li, Xiaoying Dai, Ting Zeng and Ying Wang
Diagnostics 2026, 16(2), 312; https://doi.org/10.3390/diagnostics16020312 - 18 Jan 2026
Viewed by 178
Abstract
Background: Fetal growth restriction (FGR) is a significant obstetric complication associated with increased perinatal morbidity and long-term developmental risks. Despite advances in prenatal diagnosis, the genetic etiology of isolated FGR remains incompletely characterized, complicating genetic counseling and clinical management. Objective: This study aimed [...] Read more.
Background: Fetal growth restriction (FGR) is a significant obstetric complication associated with increased perinatal morbidity and long-term developmental risks. Despite advances in prenatal diagnosis, the genetic etiology of isolated FGR remains incompletely characterized, complicating genetic counseling and clinical management. Objective: This study aimed to systematically evaluate the genetic causes of isolated FGR by integrating karyotyping, chromosomal microarray analysis (CMA), and trio-based whole exome sequencing (trio-WES) and to assess the incremental diagnostic yield of this sequential approach. Methods: A retrospective cohort of 153 fetuses with isolated FGR (diagnosed by ultrasound between February 2018 and July 2024) underwent karyotyping and CMA. Cases with normal results from both tests (n = 50) were subsequently analyzed by trio-WES. Results: Karyotyping identified chromosomal abnormalities in three cases (2.0%). CMA detected pathogenic/likely pathogenic copy number variations (CNVs) or uniparental disomy (UPD) in twelve cases (7.8%), including the three karyotypic abnormalities and nine additional cases (5.9% incremental yield). Trio-WES performed on 50 CMA-negative cases identified pathogenic or likely pathogenic variants in 12 cases (24%). Among these, seven cases (14% of the WES subgroup) harbored variants directly causative of FGR, including one case of UPD(6) missed by CMA alone. Additionally, trio-WES revealed seven incidental pathogenic/likely pathogenic variants not directly linked to FGR and identified one case in which FGR was attributed to maternal hyperphenylalaninemia. Conclusions: The sequential application of CMA and trio-WES significantly improves the diagnostic yield for isolated FGR. Trio-WES proved particularly valuable in detecting UPD and single-gene variants missed by CMA alone and in revealing contributory maternal genetic conditions. These findings support the integration of advanced genetic testing into the diagnostic workup for isolated FGR to enhance etiological diagnosis, facilitate comprehensive genetic counseling, and inform multidisciplinary management. Full article
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Article
Thickening of Dorsal Foot Nerves: A Frequent Sonographic Finding in Asymptomatic Volunteers, Potentially Leading to False Positive Results
by Veronika Vetchy, Tobias Rossmann, Paata Pruidze, Wolfgang Grisold, Wolfgang J. Weninger and Stefan Meng
Diagnostics 2026, 16(2), 303; https://doi.org/10.3390/diagnostics16020303 - 17 Jan 2026
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Abstract
Objectives: Compression neuropathies such as Anterior Tarsal Tunnel Syndrome are usually associated with focal thickening at the compression site. This study aimed to determine the frequency and location of thickenings of dorsal foot nerves in asymptomatic, healthy volunteers. We hypothesized that focal [...] Read more.
Objectives: Compression neuropathies such as Anterior Tarsal Tunnel Syndrome are usually associated with focal thickening at the compression site. This study aimed to determine the frequency and location of thickenings of dorsal foot nerves in asymptomatic, healthy volunteers. We hypothesized that focal nerve thickening of dorsal foot nerves is a frequent finding in asymptomatic individuals and occurs at anatomically plausible locations, potentially limiting the specificity of ultrasound in the diagnosis of anterior tarsal tunnel syndrome. Materials and Methods: In this prospective study, the nerves at the dorsal foot were examined with ultrasound in 60 volunteers without clinical signs of neuropathy. Cross-sectional area (CSA) changes along the nerve course were assessed, their anatomical location recorded, and demographic data collected. Results: Focal deep peroneal nerve (DPN) thickening was observed in 45% of participants, with a median CSA of 2.14 mm2 (range: 0.84–5.16) and median length of 3.98 mm (range: 1.46–9.95). The most frequent site was the first tarsometatarsal joint (41%). Thickening occurred across all age groups. Superficial peroneal nerve (SPN) thickening was found in 13.3% of participants, primarily affecting the intermediate branch, with a median CSA of 1.82 mm2 and length of 3.02 mm. No thickening was observed in the sural nerve (SN). A strong correlation was found between CSA and length of DPN thickening (r = 0.67, p < 0.001). Conclusions: Asymptomatic, focal thickening of dorsal foot nerves, particularly the DPN, is a frequent sonographic finding in healthy volunteers. These findings highlight the potential for false-positive ultrasound results and the necessity of correlating imaging findings with clinical examination when evaluating for anterior tarsal tunnel syndrome and similar neuropathies. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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