Diagnostics最新文献

Background and Objectives: Early recognition of life-threatening organ dysfunction is central to modern sepsis frameworks. We systematically reviewed the prognostic performance and clinical utility of the Neonatal Sequential Organ Failure Assessment (nSOFA) for mortality and major morbidity in NICU populations. The search identified 939 records across databases; after screening and full-text assessment, 16 studies met the inclusion criteria. Methods: Following PRISMA guidance, we searched major databases (2019-2025) for observational or interventional studies reporting discrimination or risk stratification using nSOFA in neonates. Populations included suspected/proven infection and condition-specific cohorts. Heterogeneity in timing, thresholds, and outcomes precluded meta-analysis. Results: A cumulative sample exceeding 25,000 neonates was identified across late- and early-onset infection, all-NICU admissions, necrotizing enterocolitis, respiratory distress, and very preterm screening cohorts. Across settings and timepoints, nSOFA demonstrated consistent, good-to-excellent mortality discrimination, with reported AUROCs ≥ 0.80 and upper ranges near 0.90-0.92; serial scoring within the first 6-12 h generally improved risk classification. Disease-specific applications (NEC, early-onset infection) showed similar discrimination for death or composite adverse outcomes. Conclusions: Evidence from diverse NICU contexts indicates that nSOFA is a pragmatic, EHR-ready organ dysfunction score with robust discrimination for mortality and serious morbidity, supporting routine, serial use for risk stratification and standardized endpoints in neonatal sepsis pathways, aligned with contemporary organ dysfunction-based pediatric criteria.

Background/Objectives: Gunshot wounds in living patients present significant challenges from both a clinical and a forensic perspective. Understanding the exact trajectory of a bullet is crucial not only for guiding treatment but also for providing reliable documentation in legal settings. This work introduces a practical diagnostic workflow that combines OsiriX (V. 14.1.1), a DICOM viewer with advanced 3D tools, with Autodesk Maya, a modeling platform used to recreate the external shooting scene. Methods: CT scans obtained with multidetector systems were analyzed in OsiriX using a structured, seven-step process that included multiplanar reconstructions, 3D renderings, and region-of-interest tracking. The reconstructed trajectories were then exported to Maya, where they were integrated into a virtual model of the shooting scene to correlate internal findings with the incident's external dynamics. Results: The workflow allowed precise identification of entry and exit points, reliable reconstruction of bullet paths, and effective 3D visualization. While OsiriX provided detailed information for clinical and radiological purposes, the use of Maya enabled simulation of the external scene, improving forensic interpretation and courtroom presentation. The procedure proved reproducible across cases and compatible with emergency timelines. Conclusions: The combined use of OsiriX and Maya offers a reproducible and informative method for analyzing gunshot wounds in living patients. This approach not only supports surgical and diagnostic decisions but also enhances the forensic value of radiological data by linking internal trajectories to external shooting dynamics. Its integration into trauma imaging protocols and forensic workflows could represent a significant step toward standardized ballistic documentation.

Background/Objectives: The diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC) is a rare and aggressive subtype characterized by diffuse gland involvement and early cervical lymph node metastasis. Preoperative differentiation from classic papillary thyroid carcinoma and autoimmune thyroid disease remains challenging on B-mode ultrasound. This study aimed to describe the multiparametric ultrasound features of DSV-PTC in a single-center case series and highlight practical imaging insights. Methods: We retrospectively reviewed seven consecutive patients with histologically confirmed DSV-PTC evaluated at a single center between 2013 and 2025. All patients underwent standardized B-mode ultrasound, color Doppler, and two-dimensional shear-wave elastography prior to surgery. Clinical, autoimmune, cytological, surgical, pathological, and follow-up data were analyzed descriptively. Results: The cohort included five females and two males (mean age 28 years). Autoimmune thyroid disease was present in three patients. High-risk ultrasound features were identified in all cases, with microcalcifications in six patients and a diffuse "snowstorm" appearance in five. Elastography demonstrated increased stiffness in six out of seven lesions (Emean 28-173 kPa; Emax 31-300 kPa). Cervical lymph node metastases were confirmed in all patients. In two cases, elastography aided identification of focal malignant involvement within diffusely altered thyroid parenchyma. All patients underwent total thyroidectomy with central neck dissection; lateral neck dissection and radioiodine therapy were performed selectively. No distant metastases were detected. Conclusions: In this case series, DSV-PTC showed a characteristic multiparametric ultrasound pattern combining high-risk B-mode features with frequently increased tissue stiffness. Elastography provided complementary information, particularly in the presence of autoimmune thyroid disease, by helping localize focal malignant involvement within diffusely altered parenchyma.

Background/Objectives: Stool-based GeneXpert testing has become a useful approach for diagnosing pediatric pulmonary tuberculosis (PTB). This study compared two stool-processing methods, centrifugation-based processing (CBP) and simple one-step (SOS), for detecting PTB in children using Xpert MTB/RIF Ultra (Ultra). Methods: Children with presumptive PTB were screened cross-sectionally, and stool samples were collected and tested with Ultra using the CBP method from March 2022 to December 2024 across seven divisions of Bangladesh. A subset of stool samples (n = 281) that tested positive (n = 191) and negative (n = 90) by the CBP method were re-tested again with the same sample by Ultra using the SOS method. The results of the Ultra with SOS-processed stool were compared with the CBP method to evaluate overall agreement and detection efficiency across different bacterial burdens. Results: The SOS method detected 97 of 191 CBP-positive samples, resulting in a positive percentage agreement of 50.8% (95% CI: 43.5-58.1). All 90 Ultra-negative stool were also negative by the SOS method, yielding a negative percentage agreement of 100% (95% CI: 96.0-100.0). Overall agreement between the methods was 66.6% (Kappa: 0.398). The SOS method detected 100% of high- (4/4) and medium- (7/7), 97.3% (36/37) of low-, and 83.3% (35/42) of very-low-bacterial-burden samples, but only 14.9% (15/101) of the trace-detected samples that were identified by the CBP method. Conclusions: Stool testing with Ultra using the SOS processing method missed a significant number of the most prevalent form of child TB-the 'trace-detected' category identified by the CBP method. For increased detection of childhood TB nationwide, the national program should prioritize the use of Ultra on stool samples processed by the CBP method.

Background/Objectives: Syndromic multiplex PCR assays such as BIOFIRE FilmArray^® Pneumonia (PN) panel enable rapid and simultaneous detection of bacterial and viral pathogens in respiratory specimens, improving diagnostic accuracy and patient management in lower respiratory tract infections (LRTIs). Methods: In this retrospective observational study, PN panel results in 410 bronchoalveolar lavage (BAL) samples from hospitalized patients with suspected pneumonia were analyzed and compared with those obtained using the conventional culture (CC) method. Results: The PN panel showed an overall positivity rate of 54%, detecting bacteria in 39.0% of samples, viruses in 7.1%, and atypical bacteria in 2.2%. Using the conventional culture (CC) method, 33.9% of samples tested positive. Overall, 83 (20.2%) samples that were positive by the PN panel were negative by CC, whereas only 14 specimens (3.4%) were positive by CC and negative by PN panel. The most frequently detected pathogen by both the PN panel and CC was Staphylococcus aureus (n = 67, 16.34% for PN; n = 40, 9.76% for CC). Regarding diagnostic performance, the PN panel demonstrated a sensitivity of 89.02%, a specificity of 97.86%, and an overall accuracy of 97.63%. Lower sensitivity values were observed only for the Enterobacter cloacae complex (57.14%) and the Klebsiella pneumoniae group (75%). Specificity exceeded 92% for all bacterial targets. Conclusions: The PN panel confirms enhanced pathogen detection and a shortened time-to-result. It serves as a valuable adjunct for the timely diagnosis of LRTIs, supporting antimicrobial stewardship through more precise and appropriate antibiotic selection.

Background/Objectives: Large osteochondral lesions of the talus (OLT) pose a major challenge because their size and depth often exceed the indications for bone marrow stimulation, and durable biological repair remains difficult to achieve. However, evidence for autologous osteochondral transplantation (AOT) in extensive talar defects is still limited. Methods: In this retrospective cohort, 40 consecutive patients ≥ 14 years with ICRS grade III-IV lesions of the talar dome were treated with AOT at a tertiary referral center. One to three overlapping cylindrical osteochondral grafts (mean diameter 0.9 cm) were harvested from non-weight-bearing regions of the ipsilateral patellofemoral groove using a water-cooled diamond trephine system and implanted press-fit into the talar dome. Donor sites were refilled with autologous iliac crest bone cylinders and hydroxyapatite substitute. Pain (Numeric Rating Scale, NRS) and function (AOFAS Ankle-Hindfoot Score) were recorded preoperatively and at 3, 6, 9, and 12 months, and changes over time were analyzed using generalized estimating equations. Results: Mean defect size was 137.4 ± 31.9 mm², and 82.5% of lesions were ICRS grade III. NRS pain improved from 5.69 ± 2.52 preoperatively to 0.53 ± 0.98 at 12 months (p < 0.001). AOFAS score increased from 63.79 ± 2.55 to 97.36 ± 2.49 (p < 0.001). Age and graft location significantly influenced postoperative pain, whereas graft size and sex did not. No infections, graft failures, conversions to arthrodesis or arthroplasty, or clinically relevant donor-site symptoms occurred. Conclusions: Multi-plug AOT using a diamond trephine system provides substantial and durable pain relief and functional improvement in patients with large OLT, with low complication and donor-site morbidity rates. These findings support AOT as a joint-preserving option for extensive talar defects and justify further prospective, comparative studies with long-term follow-up.

Background/Objectives: Atypical femoral fracture (AFF) represents a diagnostic and therapeutic challenge, particularly in autoimmune disease patients receiving long-term bisphosphonate (BP) and glucocorticoid (GC) therapy. Although bilateral AFF is common, the radiographic evolution of asymptomatic incomplete lesions identified at the time of a complete fracture remains insufficiently defined. This study aimed to characterize the natural history and imaging biomarkers associated with progression in this biologically homogeneous high-risk population. Methods: Ten female autoimmune disease patients with complete AFF and asymptomatic incomplete contralateral lesions were retrospectively evaluated over a mean 59 months. Serial radiographs were assessed for cortical beaking, periosteal flaring, and transverse radiolucent lines. All patients discontinued BP therapy postoperatively; teriparatide was administered when tolerated. Results: Six lesions regressed, three remained stable, and one progressed-this progressing case being the only limb with a transverse radiolucent line at baseline. No patient developed symptoms or sustained a complete fracture on the contralateral side. Radiographic remodeling occurred independently of symptoms. BP discontinuation and, when tolerated, teriparatide appeared to contribute to lesion stabilization, although statistical significance was not achieved. Conclusions: In autoimmune patients with severe long-term BP and GC exposure, most asymptomatic incomplete AFF identified at the time of contralateral complete fracture remains stable or improves under conservative management. A transverse radiolucent line is the most decisive imaging biomarker predictive of progression and warrants intensified surveillance or consideration of prophylactic fixation. Larger cohorts are needed to refine risk stratification algorithms and optimize diagnostic and management strategies.

Recurrent brain tumors-including high-grade gliomas, brain metastases, and aggressive meningiomas-continue to carry a poor prognosis, with high mortality despite therapeutic advances. The aim of this narrative review is to summarize and critically discuss the current evidence on the role of intra-arterial radioligand therapy (RLT) in the treatment of recurrent brain tumors. RLT, a targeted form of radionuclide therapy, has gained increasing attention for its potential theranostic applications in neuro-oncology. A literature search was conducted using PubMed and Scopus, including clinical studies evaluating intra-arterial radioligand delivery in central nervous system tumors. Recent research has explored intra-arterial administration of radioligands targeting somatostatin receptors and prostate-specific membrane antigen (PSMA). Somatostatin receptors are overexpressed in meningiomas, while PSMA is highly expressed in the neovasculature of glioblastomas and brain metastases; both targets can be addressed using lutetium-177 (¹⁷⁷Lu)- or actinium-225 (²²⁵Ac)-labeled radiopharmaceuticals, traditionally delivered intravenously. Available evidence indicates that the intra-arterial route achieves markedly higher radionuclide uptake on ⁶⁸Ga-PSMA-11 and ⁶⁸Ga-DOTATOC PET, as well as increased absorbed doses in dosimetric models. Dosimetric analyses consistently show greater tracer accumulation compared with intravenous administration, without evidence of significant peri-procedural toxicity. Uptake in healthy brain tissue is minimal, and no relevant differences have been reported in liver or salivary gland accumulation between intra-arterial and intravenous RLT. Although based on heterogeneous and limited data, intra-arterial RLT appears to be a promising therapeutic strategy for recurrent brain tumors. Future research should focus on improving radioligand delivery beyond the blood-brain barrier and enhancing effective tumor targeting.

Background: Pheochromocytoma is a rare adrenal neuroendocrine tumor characterized by excessive catecholamine secretion, which can lead to significant perioperative hemodynamic instability. Despite advances in anesthetic and surgical management, intraoperative hypotension is a common complication. This study aimed to identify preoperative and intraoperative predictors of hemodynamic instability during adrenalectomy for pheochromocytoma in order to improve intraoperative management and patient safety. Methods: This retrospective study included adult patients who underwent adrenalectomy for pheochromocytoma at the University Clinical Center of Serbia between January 2022 and June 2025. Preoperative clinical and biochemical data, tumor characteristics evaluated by imaging methods (CT or MRI), surgical approach, and intraoperative hemodynamic parameters were analyzed. Intraoperative hypotension was defined as mean arterial pressure (MAP) < 60 mmHg despite adequate volume resuscitation. Univariate and multivariate logistic regression analyses were performed to identify predictors of hypotension. Results: A total of 51 adult patients were included in the analysis. Intraoperative hypotension occurred in 26 patients (51%) and was significantly associated with larger tumor size and increased intraoperative fluid requirements. Multivariate analysis identified tumor diameter ≥ 49 mm (OR 0.176, 95% CI 0.034-0.895, p = 0.036) and intraoperative crystalloid infusion ≥ 1200 mL/h (OR 0.132, 95% CI 0.030-0.574, p = 0.007) as independent predictors of intraoperative hypotension. Preoperative catecholamine levels, surgical approach, and type of alpha-blocker were not significant predictors. Conclusions: Tumor size was identified as a significant predictor of intraoperative hemodynamic instability during adrenalectomy for pheochromocytoma. Careful preoperative assessment and individualized intraoperative fluid management may help reduce the risk of hypotension and optimize perioperative outcomes.

Background: With extensive research and development in the past decade, the affordability of Poly (ADP-ribose) polymerase (PARP) inhibitor therapy has drastically improved. Homologous recombination deficiency (HRD), a key biomarker, has been identified as an important guiding factor for PARP inhibitor therapeutic decisions in breast and ovarian cancer. However, identification of patients who will respond to Poly (ADP-ribose) polymerase (PARP) inhibitor therapy is challenging due to the lack of a unifying morphological phenotype. Current HRD testing via next-generation sequencing (NGS) is tissue-dependent, has high failure rates, misses relevant HRD genes, and involves longer turn-around times. Methods: To overcome these limitations, we developed a multimodal AI model, TRINITY, combining imaging, image-based transcriptome data, and clinico-molecular data, to examine whole-slide images (WSIs) obtained from hematoxylin and eosin (H&E)-stained samples to non-invasively predict HRD status. Results: The TRINITY model, tested on 316 TCGA breast and OV samples, presented a sensitivity of 0.77 and 0.91, NPV of 0.94 and 0.86, PPV of 0.63 and 0.58, specificity of 0.89 and 0.47, and AUC-ROC of 0.91 and 0.72, respectively. The model also yielded a similar outcome in a blind study of 74 samples, with a sensitivity of 81.2, NPV of 0.85, PPV of 0.77, specificity of 0.81, and high AUC-ROC value of 0.89, showing its promising preliminary evidence of predicting HRD status on external cohorts. Conclusions: These findings demonstrate TRINITY's potential as a rapid, cost-effective, and tissue-sparing alternative to conventional NGS testing. While promising, further validation is needed to establish its generalizability across broader cancer types.