Diagnostics最新文献

Background: Lung perfusion SPECT/CT is central to the diagnostic evaluation of chronic thromboembolic pulmonary hypertension (CTEPH), yet current assessments remain qualitative. This pilot study aimed to explore a standardized quantitative method for lung perfusion SPECT/CT to differentiate CTEPH from non-CTEPH patients. Methods: We retrospectively analyzed lung perfusion SPECT/CT studies obtained over a three-year period in patients assessed for suspected CTEPH. Perfusion counts were divided into ten equal intervals from zero to the maximum perfusion counts, and each decile was used as a threshold to define perfusion defects. Perfusion defect fraction was quantified, and group differences, diagnostic performance, and correlations with mean pulmonary arterial pressure (mPAP) were evaluated. Results: CTEPH patients showed significantly higher perfusion defect fraction than non-CTEPH controls. The 10% threshold demonstrated the best diagnostic performance, with an optimal cutoff of 20.6%, yielding a sensitivity of 75% and specificity of 100% for identifying CTEPH. Patients with distal-type disease or small, localized perfusion defects exhibited perfusion defect fraction overlapping with controls. Perfusion defect fraction correlated significantly and positively with mPAP. Conclusions: In this pilot study, quantitative analysis of lung perfusion SPECT/CT demonstrated feasibility as a complementary method to visual interpretation. While promising, these findings are preliminary and require validation in larger populations to establish their clinical utility for CTEPH diagnosis.

Background: Sickle cell disease (SCD) is a prevalent hereditary hemoglobinopathy associated with substantial morbidity, particularly in regions with limited access to advanced laboratory diagnostics. Conventional diagnostic workflows, including manual peripheral blood smear examination and biochemical or molecular assays, are resource-intensive, time-consuming, and subject to observer variability. Recent advances in artificial intelligence (AI) enable automated analysis of blood smear images and offer a scalable alternative for SCD screening. Methods: This study presents a controlled benchmark of CNNs, Vision Transformers, hierarchical Transformers, and hybrid CNN-Transformer architectures for image-level SCD classification using a publicly available peripheral blood smear dataset. Eleven ImageNet-pretrained models were fine-tuned under identical conditions using an explicit leakage-safe evaluation protocol, incorporating duplicate-aware, group-based data splitting and repeated splits to assess robustness. Performance was evaluated using accuracy and macro-averaged precision, recall, and F1-score, complemented by bootstrap confidence intervals, paired statistical testing, error-type analysis, and explainable AI (XAI). Results: Across repeated group-aware splits, CNN-based and hybrid architectures demonstrated more stable and consistently higher performance than transformer-only models. MaxViT-Tiny and DenseNet121 ranked highest overall, while pure ViTs showed reduced effectiveness under data-constrained conditions. Error analysis revealed a dominance of false-positive predictions, reflecting intrinsic morphological ambiguity in challenging samples. XAI visualizations suggest that CNNs focus on localized red blood cell morphology, whereas hybrid models integrate both local and contextual cues. Conclusions: Under limited-data conditions, convolutional inductive bias remains critical for robust blood-smear-based SCD classification. CNN and hybrid CNN-Transformer models offer interpretable and reliable performance, supporting their potential role as decision-support tools in screening-oriented research settings.

Background: Perinatal depression and anxiety are common but often under-detected. Current screening relies on depression-centered instruments and may miss relational drivers including sexual dysfunction, low self-esteem, and psychosocial adversity. Objective: To synthesize evidence on sexual function, self-esteem/body image, and psychosocial context as correlates of perinatal depression and anxiety, and propose a risk-stratified screening framework. Methods: We conducted a narrative evidence synthesis of studies from January 2010 to May 2025 (PubMed/MEDLINE, Scopus, Web of Science) examining associations between perinatal mood/anxiety outcomes and sexual function (Female Sexual Function Index), self-esteem/body image (Rosenberg Self-Esteem Scale), and psychosocial factors (perceived support, intimate partner violence). Results: Sexual dysfunction was highly prevalent and consistently associated with depressive and anxiety symptoms. Longitudinal evidence demonstrated bidirectional pathways: mood symptoms reduced sexual satisfaction, while sexual difficulties intensified relational strain and symptom persistence. Low self-esteem and negative body image mediated links between physiological changes and postpartum depression. Psychosocial adversity, particularly low partner support and intimate partner violence, identified high-risk subgroups with greater severity and slower recovery. Single-instrument approaches (Edinburgh Postnatal Depression Scale alone) may miss pregnancy-specific anxiety and postpartum relational drivers. Conclusions: A staged, risk-stratified model is recommended: assess pregnancy-specific anxiety alongside depression screening in the second/third trimesters; postpartum, selectively add sexual function and self-esteem assessment for women with elevated symptoms or psychosocial risk. Integration within defined referral pathways may improve detection and enable targeted perinatal mental health care.

Background/Objectives: Acute leukemia, the most common childhood cancer, poses a significant public health challenge in low- and middle-income countries (LMICs) due to its high incidence and mortality rates. Survival rates in these regions are often lower, primarily due to delayed and inaccurate diagnoses, limited access to treatment, therapy abandonment, therapy-related toxicity, and inadequate healthcare infrastructure. In Mexico, a new initiative called OncoCREAN has been developed to address this urgent need by establishing local treatment centers near pediatric patients' home cities, ensuring timely cancer detection and comprehensive disease treatment. Methods: A retrospective observational study was conducted on pediatric patients treated at the Mexican Social Security Institute (IMSS) between 18 May 2022 and 30 June 2025. Patients presenting clinical suspicion of acute leukemia were referred to OncoCREAN centers for sample collection and subsequent shipment to the Oncoimmunology and Cytomics Laboratory (OCL), where immunophenotyping confirmed the diagnoses. Results: The implementation of the OncoCREAN model significantly reduced diagnostic turnaround times, facilitating timely therapeutic decisions, minimized uncertainty, and optimized clinical management. The decentralized framework demonstrated feasibility across diverse geographic regions, ensuring access to advanced diagnostic technology for vulnerable populations and generating valuable data on disease incidence and molecular profiles. Conclusions: The OncoCREAN model highlights the critical importance of decentralizing high-technology diagnostic resources in modern pediatric oncology. This new approach to translational research that is accessible, inclusive, and relevant to society creates a paradigm shift in the management of childhood cancer and other diseases.

We report a rare case of primary renal adenosarcoma in a 26-year-old woman presenting with right flank pain. Contrast-enhanced computed tomography demonstrated a large, mixed solid and cystic mass confined to the renal pelvocalyceal system, closely mimicking a malignant renal tumor. Histopathologic examination revealed a biphasic tumor with phyllodiform architecture. Immunohistochemistry showed benign epithelial positivity for cytokeratin and focal malignant stromal positivity for smooth muscle actin and CD10; however, the tumor was negative for CD99, Wilm's tumor protein, SS18-SSX, BCOR, and estrogen/progesterone receptors. These findings led to the diagnosis of primary renal adenosarcoma. This case highlights the diagnostic challenge of distinguishing this rare tumor from more common renal malignancies and underscores the importance of imaging-pathologic correlation.

Background/Objectives: Gastrointestinal bleeding (GIB) in hemodialysis (HD) patients carries substantial mortality risk. The A4C and CHAMPS scores are novel risk stratification tools, while CAGIB was developed for cirrhosis-associated GIB. We compared the discriminative performance of these scores in HD patients with acute GIB, stratified by variceal and non-variceal etiology. Methods: We conducted a retrospective cohort study of 57 HD patients with acute GIB (January 2020-December 2024) following STROBE and TRIPOD guidelines. Patients were stratified as non-variceal (n = 42) or variceal (n = 15). The primary outcome was 30-day mortality; secondary outcomes included ICU admission, rebleeding, and transfusion requirements. A4C, CHAMPS, CAGIB, ABC, AIMS65, and Glasgow-Blatchford scores were compared using AUROC analysis. Results: Mean age was 45.8 ± 13.2 years. Non-variceal GIB (73.7%) was predominantly caused by angiodysplasia (28.6%) and peptic ulcer disease (23.8%); variceal GIB (26.3%) was mainly from esophageal varices (80.0%). Overall 30-day mortality was 17.5%, significantly higher in variceal (26.7%) versus non-variceal GIB (14.3%, p = 0.048). For non-variceal GIB, CHAMPS demonstrated excellent mortality discrimination (AUROC 0.91), significantly outperforming CAGIB (AUROC 0.68, p = 0.02). Conversely, for variceal GIB, CAGIB showed superior performance (AUROC 0.89) compared to CHAMPS (AUROC 0.72, p = 0.04). A4C performed consistently for transfusion prediction across both groups (AUROC 0.75-0.78). Conclusions: Optimal risk stratification in HD patients with GIB requires etiology-specific scoring: CHAMPS for non-variceal and CAGIB for variceal bleeding. This complementary performance reflects distinct pathophysiological mechanisms underlying mortality. Prospective validation in larger multicenter cohorts is warranted.

Objective: This study assessed the efficacy of the cervical pessary combined with progesterone to prevent preterm birth in pregnant women with short cervix and previous preterm birth. Methods: This post hoc analysis of the randomized, multicenter P5 trial examined the efficacy of the cervical pessary associated with vaginal progesterone versus progesterone alone for preventing recurrent preterm birth in 155 pregnant women with cervical length ≤30 mm and prior spontaneous preterm birth (sPPTB) (main subgroup), and in 85 women with cervical length ≤25 mm and sPPTB (higher-risk population). The primary outcome was spontaneous preterm birth (sPTB) before 34 weeks; secondary outcomes included sPTB rates before 37, 32, and 28 weeks, analyzed using Odds Ratio (OR) and Kaplan-Meier curves. A secondary objective was to identify predictive factors for sPTB recurrence in the cohort with prior preterm birth (n = 479), irrespective of treatment allocation. Results: Demographic profiles were balanced between groups. The addition of a cervical pessary to progesterone did not result in a significant reduction in sPTB before 34 weeks: to cervix ≤30 mm, OR 1.169 (95% CI 0.524-2.609; p = 0.703) and 1.167 (95% CI 0.466-2.921; p = 0.742) for ≤25 mm; similar null findings were observed across all gestational age thresholds. Kaplan-Meier survival curves demonstrated no significant differences between groups (p > 0.05). Secondary analysis (n = 479) identified principal predictors of sPTB recurrence, regardless of the cervical length: higher education (OR 2.37; 95% CI 0.99-5.63; p = 0.024), previous cervical conization (OR 4.78; 95% CI 1.08-21.19; p = 0.039) previous low birth weight < 2.5 kg (OR 2.43; 95% CI 1.22-4.85; p = 0.051), prior miscarriages (OR 1.36; 95% CI 1.10-1.69; p = 0.005), current twin pregnancy (OR 14.86; 95% CI 4.35-50.68; p < 0.001) and cervical funneling (OR 3.60; 95% CI 1.79-7.24; p < 0.001). Predictive models achieved an AUC of 0.719, with 87.0% sensitivity and 58.8% specificity. Conclusions: These findings do not support the routine use of cervical pessary combined with progesterone in women with dual risk factors. In this Brazilian population, specific clinical and obstetric characteristics-including higher education, cervical funneling, prior low birth weight delivery, previous conization, current twin gestation, and prior miscarriage-could identify women at increased risk for recurrent preterm birth.

Dorsal vein thrombophlebitis, or penile Mondor disease, is a rare benign penile condition presenting with cord-like induration at the dorsum of the penis. This induration is caused by an isolated thrombosis of the dorsal superficial vein of the penis. As symptoms are not typical and many patients are asymptomatic, it is often underdiagnosed. Causes include trauma, infection, sexual activity, genital surgery, and cancer. Differential diagnosis includes Peyronie's disease and sclerosing lymphangitis, and diagnosis remains crucial as it facilitates the treatment plan and reassures the patient. Treatment consists of conservative measures, such as oral nonsteroidal anti-inflammatory medications (NSAIDs) and anticoagulation, and surgical management, with excision of the thrombosed vein. We present a case report of penile Mondor disease following circumcision, with the aim to provide educational ultrasound images of this rare entity. The patient, 32 years old, on the sixth postoperative day, developed a cord-like induration, along with pain, at the dorsum of the penis. Physical examination revealed a cord-like mass on the dorsal aspect of the penis. Penile triplex demonstrated a lack of endoluminal flow signals of the superficial dorsal veins, which were uncompressible. Triplex of the femoral and iliac veins showed no sign of thrombosis. Clinical presentation, along with imaging findings, facilitated the diagnosis of Mondor disease. The patient was treated conservatively with sexual abstinence and NSAIDs, and 6 weeks after the presentation, the patient was asymptomatic, without evidence of the disease in clinical examination.

Objective: We present the first clinical experience with the BIOGRAPH One next-generation PET/MRI system scanner, evaluating its performance for body and brain imaging in patients across multiple tracers. Methods: A total of 59 patients were scanned on the BIOGRAPH One PET/MRI following standard clinical PET/CT (n = 52) or first-generation PET/MRI (Biograph mMR, n = 7). Scans comprised 30 total body (TB), whole body (WB), or regional scans with [¹⁸F]FDG, and 29 brain scans with either [¹⁸F]FDG (n = 5), [¹⁸F]FE-PE2I (n = 10), [¹⁸F]FET (n = 4), or [⁶⁸Ga]Ga-DOTATOC (n = 10). The PET image quality was visually assessed using a 5-point Likert scale (1 = very good to 5 = very bad) and compared with clinical scans acquired on either a current-generation digital PET/CT or a first-generation PET/MRI system, including evaluation of diagnostic concordance. PET quantification and image noise was compared in brain and WB/TB [¹⁸F]FDG PET scans. Results: PET image quality was rated as good or very good in 93% of scans with a median [inter-quartile range] score of 1.5 [1.5;2]. In 99% of cases, image quality was judged equal to or better than the clinical reference scan (median score 3 [2.5;3]). Diagnostic concordance was observed in 99% of readings. Imaging metrics revealed the anticipated regional bias in brain imaging, while no significant bias was observed in body imaging. Image noise was comparable to that observed with digital PET/CT and demonstrated superiority over first-generation PET/MRI despite potential degradation related to isotope decay in BIOGRAPH One PET/MRI acquisitions scans performed at the end of the imaging workflow. Conclusions: Within the study limitations related to sequential imaging, the BIOGRAPH One PET/MRI scanner demonstrated improved PET sensitivity and workflow potential over its first-generation predecessor, which may allow for broader clinical and research applications.

Background/Objectives: Vertical root fractures (VRFs) present significant diagnostic challenges due to their subtle radiographic features and variability across imaging modalities. Artificial intelligence (AI) offers potential to improve detection accuracy, yet evidence regarding its performance across different imaging systems remains fragmented. To critically evaluate current evidence on AI-assisted detection of VRFs across periapical radiography, panoramic radiography, and cone-beam computed tomography (CBCT) and to compare diagnostic performance, methodological strengths, and limitations. Methods: A systematic review of literature up to January 2025 was carried out using databases such as PubMed, Scopus, Web of Science, and the Cochrane Library. The studies included in this review utilized AI-based techniques for detecting VRF through periapical, panoramic, or CBCT imaging. Extracted data encompassed study design, AI models, dataset sizes, preprocessing methods, imaging parameters, validation techniques, and diagnostic metrics. The risk of bias in these studies was evaluated using the QUADAS-2 tool. Results: Ten studies met inclusion criteria; CNN-based models predominated, with performance highly dependent on imaging modality. CBCT-based AI systems achieved the highest diagnostic accuracy (91.4-97.8%) and specificity (90.7-100%), followed by periapical radiography models with accuracies up to 95.7% in controlled settings. Panoramic radiography models demonstrated lower sensitivity (0.45-0.75) but maintained high precision (0.93) in certain contexts. Most studies reported improvements over human performance, yet limitations included small datasets, heterogeneous methodologies, and risk of overfitting. Conclusions: AI-assisted VRF detection shows promising accuracy, particularly with CBCT imaging, but current evidence is constrained by methodological variability and limited clinical validation.