Search Results (1,264)

Background and Objectives: Chronic spontaneous lumbar epidural hematoma (CSLEH) is a rare condition that may mimic a lumbar synovial cyst clinically and radiologically, making accurate preoperative diagnosis challenging. This study aimed to compare the clinical and magnetic resonance imaging (MRI) characteristics of CSLEHs and lumbar synovial cysts and to identify features that may facilitate their preoperative differentiation. Materials and Methods: This retrospective single-center study included 16 adult patients who underwent surgical decompression for symptomatic extradural lesions located between T12 and S1 and were ultimately diagnosed with either CSLEH or lumbar synovial cyst. Based on definitive intraoperative findings with histopathological confirmation when applicable, patients were classified into a CSLEH group (n = 6) or a lumbar synovial cyst group (n = 10). Demographic characteristics, clinical presentation, MRI findings, lesion localization, neurological deficits, pain severity assessed using the Visual Analog Scale (VAS), and postoperative outcomes were compared between the groups. Results: Patients with CSLEHs had a significantly shorter symptom duration (p = 0.001), more frequent anticoagulant use (p = 0.008), and a higher prevalence of motor weakness (p < 0.001) and sensory deficits (p = 0.001) than those with lumbar synovial cysts. Preoperative pain severity was significantly greater in the CSLEH group (p < 0.001). No significant differences were observed in MRI signal characteristics or lesion distribution between the groups. Surgical decompression was associated with marked postoperative pain improvement in both groups, with a greater reduction in VAS scores (ΔVAS) in the CSLEH group (p = 0.007). No postoperative complications were observed. Conclusions: CSLEH should be considered in the differential diagnosis of lumbar synovial cyst, particularly in patients with a relatively short symptom duration, anticoagulant use, and progressive neurological deficits. Although conventional MRI remains essential for preoperative evaluation, substantial overlap in MRI characteristics may limit reliable differentiation between these entities. Integration of clinical and radiological findings may improve preoperative diagnostic suspicion, while surgical exploration can provide both definitive diagnosis and effective neural decompression. Full article

Background/Objectives: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary syndrome characterized by primary hyperparathyroidism, duodeno-pancreatic and pituitary neuroendocrine tumors. Adrenal lesions are acknowledged manifestations of MEN1, but their functional characterization remains limited. Mild autonomous cortisol secretion (MACS) is associated with cardiometabolic risk and skeletal involvement in sporadic adrenal incidentaloma, significantly impacting patient morbidity, but data in MEN1 are lacking. The aims of the study were to estimate the prevalence of MACS in adult patients with MEN1 and radiological evidence of adrenal involvement, and to evaluate the associated biochemical, cardiometabolic, and skeletal features. Methods: This retrospective single-center observational study included adult patients with clinical, familial, or genetic MEN1 and adrenal involvement. MACS was defined as serum cortisol >1.8 µg/dL after a 1 mg overnight dexamethasone suppression test in the absence of overt Cushing syndrome. Cardiometabolic and skeletal characteristics were compared according to MACS status. Results: Among 101 MEN1 patients, 38 had adrenal involvement and 22 underwent complete hormonal evaluation. MACS was identified in 15 of the 22 patients (68.2%). Patients with MACS had significantly lower baseline ACTH concentrations and showed a trend toward a higher prevalence of metabolic syndrome. No significant differences were observed in osteoporosis or fracture prevalence. Conclusions: This is the first study specifically evaluating the prevalence of MACS in MEN1 patients with adrenal lesions. MACS appears to be more common than in sporadic adrenal incidentalomas and may represent an important factor for improving clinical characterization and tailoring patient management. Larger prospective studies are needed to define the optimal follow-up strategy. Full article

Background: Spermatocytic tumor (ST) is a rare non-GCNIS-derived testicular germ cell neoplasm that predominantly affects older men and generally follows an indolent course. Its occurrence in a cryptorchid testis is exceptionally uncommon. Methods: A narrative literature review was conducted using the PubMed database, including studies published up to August 2026. The search used combinations of the terms “spermatocytic tumor”, “spermatocytic seminoma”, “cryptorchidism”, “undescended testis”, “immunohistochemistry”, “molecular features”, “magnetic resonance imaging”, and “treatment”. Results: A 56-year-old man presented with a painless left inguinal mass corresponding to a cryptorchid testis. Serum tumor markers were normal. MRI demonstrated a well-circumscribed heterogeneous lesion with pseudocystic areas and enhancement of the solid component. Radical inguinal orchiectomy was performed. Histopathological examination revealed the characteristic triphasic cellular population without GCNIS, lymphovascular invasion, or sarcomatous transformation. Immunohistochemistry showed SALL4 and CD117 positivity and absence of OCT3/4 and D2-40 expression, supporting the diagnosis of ST and its distinction from classical seminoma. No recurrence or metastatic disease was detected during 12 months of follow-up. Conclusions: ST arising in a cryptorchid testis represents an exceptionally uncommon presentation. Integration of clinical, radiological, morphological, and immunohistochemical findings is essential for accurate diagnosis and distinction from classical seminoma, thereby avoiding unnecessary additional treatment. Full article

Background: Nontuberculous mycobacterial pulmonary disease (NTM-PD) and pulmonary tuberculosis (PTB) present with similar clinical and radiological features, frequently leading to misdiagnosis. This study aimed to compare NTM-PD with extrapulmonary NTM disease (ENTM) and PTB and to develop a predictive model for early differentiation. Methods: We retrospectively analyzed 473 NTM patients (340 NTM-PD, 112 ENTM, 21 disseminated) and 218 PTB patients treated between January 2008 and December 2024. A diagnostic model was developed using the Least Absolute Shrinkage and Selection Operator (LASSO) regression algorithm and multivariate logistic regression, with internal validation via 1000 bootstrap resamples and a pre-split validation cohort. Performance was evaluated by the area under the receiver operating characteristic curve (AUC), calibration curves, and decision curve analysis. Results: Compared to ENTM, NTM-PD patients were older and had lower BMI, with bronchiectasis (OR = 24.86) and prior PTB history (OR = 7.58) as the strongest risk factors. Relative to PTB, NTM-PD patients were more often female and older, with more bronchiectasis and mucus plugs on imaging, while PTB showed more pleural thickening and effusion. NTM isolates exhibited high resistance to first-line anti-TB drugs but maintained susceptibility to macrolides and amikacin. The nine-predictor nomogram achieved AUCs of 0.758 (training) and 0.731 (validation), with calibration and decision curve analysis confirming clinical utility. Conclusions: NTM-PD and PTB exhibit distinct clinical, radiological, and microbiological profiles. The nomogram offers a useful preliminary screening tool for early differentiation, though external validation in multicenter studies is warranted. Full article

Background: Prostatic adenoid cystic carcinoma/basal cell carcinoma (ACC/BCC) has been reclassified under the fifth edition of the World Health Organization’s classification of tumors, distinguishing it from basal cell cancer of the skin. This malignant neoplasm exhibits distinct biological characteristics that differ from those of typical prostatic adenocarcinoma. However, optimal clinical management of prostatic ACC/BCC remains uncertain because of its rarity and the limited evidence available. Methods: This study retrospectively reviews the treatment course of a 62-year-old male patient presenting with more than six months of dysuria. Initial management included transurethral plasmakinetic resection of the prostate (TUPKP), followed by robot-assisted radical prostatectomy and bilateral pelvic lymph node dissection. Postoperative fluorescence in situ hybridization (FISH) demonstrated MYB rearrangement, providing molecular support for the pathological classification of prostatic ACC/BCC and facilitating diagnostic reclassification. Results: Pathological examination of the TUPKP specimen indicated poorly differentiated carcinoma, with findings consistent with prostatic ACC/BCC. Preoperative imaging showed an irregular soft-tissue lesion in the prostate/bladder neck region, without definite pelvic lymph node or distant organ metastasis. Histological analysis demonstrated cribriform structures and perineural invasion, while immunohistochemistry supported a basal cell phenotype; together with these findings, detection of MYB rearrangement via FISH supported reclassification of the tumor as prostatic ACC/BCC. Following radical surgery, adjuvant paclitaxel plus carboplatin was administered as an individualized empirical treatment in the absence of an established disease-specific standard. The patient completed six cycles of adjuvant chemotherapy and remained clinically stable during follow-up, with no radiological evidence of recurrence at the latest evaluation. Conclusions: This case highlights the diagnostic challenges of prostatic ACC/BCC and underscores the value of integrating molecular findings with histopathological and immunohistochemical features to support accurate tumor classification and individualized clinical management. MYB rearrangement may provide useful molecular support for diagnosis and classification; however, its biological and potential therapeutic significance in prostatic ACC/BCC requires further investigation in larger cohorts. Full article

Background: This study aims to characterise the clinical and radiological features of Posterior reversible encephalopathy syndrome (PRES) in the context of multisystem inflammatory syndrome in children (MIS-C), consolidating reported cases to aid clinicians in diagnosis, management, and future research. Methods: A systematic review was conducted, adhering to PRISMA guidelines and registered under PROSPERO (CRD420251011869). Four academic databases and grey literature sources were searched up to April 2025. Inclusion criteria were cases with confirmed MIS-C and a diagnosis of PRES supported by compatible clinical and radiological findings or reported by the original investigators when detailed imaging information was unavailable. Results: Sixteen studies encompassing sixteen pediatric cases were identified. The majority were female, with a median age of 9 years. Among patients with available data, hypertension was reported in 8 cases, seizures in 9 cases, and visual disturbances in 4 cases. MRI findings predominantly showed cortical-subcortical hyperintensities in the parieto-occipital, posterior temporal, and frontal lobes. CT was frequently normal. Radiological regression was observed in most follow-up MRIs. Reported management was heterogeneous and variably described, including treatment of hypertension and seizures when present, alongside treatment of MIS-C and other potential precipitating conditions. Favourable clinical outcomes were reported in the published cases in which outcome information was available, with a median length of hospital stay of 26 days (range: 8–45 days). PRES is a rare but clinically important neurological condition reported in children with MIS-C. MRI remains the imaging modality of choice due to its sensitivity in detecting characteristic vasogenic edema, which is often missed on CT. Conclusions: PRES has been reported in a small number of children with MIS-C, but the available evidence is heterogeneous and subject to substantial diagnostic, selection, and publication biases. The relationship between MIS-C and PRES and the prognosis of affected patients still remain to be further elucidated. Full article

Background and Objectives: COPD is a heterogeneous disease in which conventional clinical classifications may not fully capture the complexity of patient profiles. This exploratory study aimed to examine whether multidimensional COPD phenotypes could be identified using unsupervised cluster analysis integrating clinical, functional, radiological and laboratory features. Materials and Methods: We enrolled 161 patients with confirmed COPD evaluated between January 2020 and January 2024. Demographic, clinical, functional, radiological and laboratory findings were collected. Mixed-type data were analyzed using Gower distance and Partitioning Around Medoids (PAM) clustering. The optimal solution was selected by average silhouette width; stability was assessed by 1000 bootstrap resamples and sensitivity analyses. Results: The two-cluster solution had the highest silhouette width (0.184), although separation was modest. Cluster 1 (n = 78) was characterized by greater symptom and exacerbation burden, worse lung function, greater static hyperinflation, shorter 6-min walking distance and more frequent emphysema than cluster 2 (n = 83). Bootstrap resampling indicated internal stability, although concordance with the primary partition varied across sensitivity analyses. After correction for multiple post hoc comparisons, only LAMA/LABA/ICS use differed between clusters, whereas demographic characteristics, comorbidity burden and blood eosinophil levels were comparable. Conclusions: These exploratory findings suggest multidimensional assessment may complement conventional classifications, but external and longitudinal validation is needed before clinical implementation. Full article

Background: Intracranial hemorrhage (ICH) is a time-critical neurological emergency in which delayed diagnosis significantly worsens patient outcomes. This challenge is amplified in resource-limited, high-workload settings where rapid neuroimaging interpretation may be constrained. Many high-performing deep learning approaches for disease detection rely on large-scale models trained on extensive data and evaluated only on internal datasets, limiting their generalization across heterogeneous clinical environments. This study aims to develop and evaluate a resource-efficient framework for automated ICH detection from CT scans, with internal and external validation across heterogeneous clinical settings. Methods: A hybrid deep learning framework was developed, combining an EfficientNetV2-S-based feature extractor with a bidirectional GRU model for scan-level prediction. The model was trained on a stratified subset of 6000 CT scans from the RSNA Intracranial Hemorrhage Detection dataset and evaluated using an internal test set and two external validation cohorts (PhysioNet and CQ500). Results: On an internal held-out test set, the model achieved scan-level AUROC and AUPRC of 0.980 and 0.977, respectively, and slice-level AUROC and AUPRC of 0.981 and 0.923. External validation on the PhysioNet and CQ500 datasets yielded scan-level AUROC/AUPRC values of 0.914/0.932 and 0.905/0.909, respectively, demonstrating consistent performance across datasets differing in institution, geography, patient population, and acquisition protocols. Conclusions: Despite its compact architecture and reduced training subset, the proposed framework achieves performance competitive with substantially larger and more computationally demanding models, completing training in under 26 h on single-GPU hardware. These results support the feasibility of reproducible, resource-efficient ICH detection systems for automated triage in emergency radiology workflows across different clinical settings. Full article

Multimodal learning has gained attention in recent years due to its ability to effectively utilize data features from various modalities. Diagnosing the vulnerability of atherosclerotic plaques directly from carotid 3D MRI images is challenging for both radiologists and conventional 3D vision networks. In clinical practice, radiologists assess patients using a multimodal approach that incorporates various imaging modalities and domain-specific expertise, paving the way for the creation of multimodal diagnostic networks. In this study, we proposed an effective framework to leverage radiologists’ domain knowledge to improve the automated diagnosis of carotid plaque vulnerability through variational inference and multimodal knowledge distillation (VMD). This framework excels in harnessing cross-modality prior knowledge from limited image annotations and radiology reports within training data, thereby enhancing the diagnostic network’s accuracy for unannotated 3D MRI images. We validated the proposed VMD framework on our in-house dataset, demonstrating its effectiveness. Full article

Introduction: Olfactory groove schwannomas (OGSs) are exceptionally rare intracranial tumors, with fewer than 80 cases reported. Their imaging features often mimic meningiomas or esthesioneuroblastomas, complicating preoperative diagnosis. Their origin remains debated due to the absence of Schwann cells in the olfactory nerve. Research Question: To describe a rare case of olfactory groove schwannoma with ethmoidal extension, successfully treated through a combined interhemispheric and endoscopic endonasal approach, and to discuss its diagnostic and surgical implications in light of the current literature. Furthermore, to measure the respective olfactory function before and after surgery. Material and Methods: A 52-year-old man presented with transient visual disturbances, headache, lexical access difficulties, slight executive dysfunction with impaired inhibition, and anterograde verbal memory impairment. He had no olfactory complaints but olfactory testing revealed unilateral, left-sided anosmia. Preoperative MRI demonstrated a large left olfactory groove mass with solid–cystic components, bone erosion, and inferior ethmoidal extension. A combined transcranial interhemispheric and endoscopic endonasal approach was performed to achieve total resection and ensure skull base reconstruction. Results: Gross total tumor removal was achieved. Histopathological examination confirmed a WHO grade I schwannoma. Postoperative recovery was uneventful, with improvement in neuropsychological and left-sided olfactory function. There was no residual lesion on follow-up MRI. Discussion and Conclusions: OGS should be included in the differential diagnosis of anterior skull base tumors with cystic or sinonasal extension. In selected cases, a combined cranio-endoscopic approach allows safe and radical resection while minimizing morbidity. Accurate histopathological evaluation remains essential for definitive diagnosis, as radiological features alone may be misleading. Olfactory function should be systematically measured since preservation and even improvement of olfactory function are possible. This supports a non-olfactory origin of the tumor, suggesting secondary compression rather than primary involvement of the olfactory system. Full article

Background: Recurrent or metastatic head and neck squamous cell carcinoma (R/M HNSCC) is an aggressive malignancy with a historically poor prognosis. Although immune checkpoint inhibitors (ICIs) targeting the PD-1/PD-L1 axis have established a new first-line standard of care, durable clinical benefit is restricted to a minority of patients, while primary or acquired resistance remains a major clinical challenge. This narrative review aims to provide a conceptual clinical–biological synthesis of immunotherapy in R/M HNSCC through an anatomical and biomarker-driven lens, with a focus on characterizing potential shared features of “exceptional responders”. Methods: A targeted narrative literature search was conducted across PubMed/MEDLINE and to identify key clinical trials and representative clinical reports of exceptional response to ICIs in R/M HNSCC. The literature was not systematically synthesized to construct a conceptual clinical–biological framework of response and resistance. Results: Landmark clinical data confirm durable survival benefits with frontline pembrolizumab-based regimens in selected PDL-1 positive populations compared to historical chemotherapy. Qualitative appraisal of illustrative cases and translational cohorts suggests a potential biological hypothesis: exceptional responders, defined as patients achieving unexpected, multi-year complete radiological, pathological, or metabolic remissions, often align with a favorable confluence of a pre-existing “hot” or inflamed tumor microenvironment, preserved antigen presentation machinery, and elevated antigenic novelty driven by viral oncoproteins (HPV, EBV) or high mutational/indel burdens. Conversely, primary and acquired resistance are conceptually associated with defects in antigen processing, immunosuppressive cellular barriers, and alternative immune checkpoints. Conclusions: Immunotherapy has fundamentally transformed R/M HNSCC management, yet exceptional single-agent responses remain rare. Rather than a definitive or proven biological biomarker, the proposed blueprint represents an integrative hypothesis highlighting the complex interplay of baseline immune inflammation, genomic features, and viral drivers. Translating these observations into broader clinical benefit will require validated biomarker-driven personalization and rationally designed combination regimens. Full article

Background: Immunotherapy and targeted therapy have gained ground over conventional chemotherapy in treating various cancers. While pulmonary toxicity associated with these agents is rare, it represents a significant factor in both mortality and morbidity and may influence the overall success of cancer treatment. This case series report adds to the emerging evidence of cancer therapy-induced pneumonitis features and corticotherapy outcomes. Patients and methods: This single-center, retrospective case series analyzed 12 consecutive cases of patients undergoing immunotherapy (four receiving nivolumab, four receiving pembrolizumab) or targeted therapy (three receiving obinutuzumab, one receiving abemaciclib) for cancer (seven with lung cancer, three with non-Hodgkin lymphoma, one with breast cancer, one with renal cancer) who developed pneumonitis during their follow-up. Results: The interval from oncological treatment initiation to pneumonitis onset ranged from 6 to 48 months (median = 18.5), and in four patients it occurred after discontinuation of oncologic therapy. In most patients, the diagnosis was established with high probability based only on the clinical presentation, radiologic pattern, and concomitant oncologic therapy. Bronchoscopy with bronchoalveolar lavage analysis was performed in eight of the 12 patients, particularly when onset followed treatment discontinuation. The main symptom was dyspnea (10/12 cases), and three of 12 patients had respiratory failure (SpO₂ ≤ 88%). The CTCAE severity grades were: one mild, seven moderate, three severe, and one life-threatening. The CT scan showed different patterns (7 OP, 4 NSIP-like, and 1 HP). Eleven patients received oral methylprednisolone (0.40 to 0.82 mg/kg) for 5 to 16 weeks. Two patients continued oncologic treatment, and six discontinued. Pneumonitis improved or resolved in 11 of the 12 patients; one patient deteriorated after reintroduction of immunotherapy and subsequently died from cancer-related complications. Conclusions: Immunotherapy- and targeted therapy-induced pneumonitis can express various features and severities, and prompt recognition and diagnosis based on clinical, radiologic and contextual elements are mandatory. In this small, heterogeneous series the individualized corticosteroid regimens used were followed by favorable outcomes. Our observations suggest that, in selected clinically improving patients, follow-up may rely only on clinical assessment and chest X-ray, and extensive tests may be reserved for non-responsive cases. Full article

Cardiovascular deterioration is a clinically important event in intensive care units, but early prediction remains challenging because risk may be reflected across structured clinical variables, physiological time series, and clinical text. In this work, we present MultiCardioNet, a multimodal deep learning framework for early prediction of a composite ICU deterioration endpoint using MIMIC-IV data. The prediction target was defined as vasopressor initiation and/or early death during the 24–72 h outcome window, making the task broader than mortality prediction alone but also related to treatment escalation and circulatory support. The model combines structured clinical variables, 24-h vital sign time series, and timestamp-filtered radiology reports. Structured information was represented using enriched first-24-h clinical features, while physiological dynamics were modeled using a transformer-based time series encoder and radiology reports were represented using CXR-BERT-specialized embeddings. On the held-out test set, MultiCardioNet achieved an AUROC of 0.9014, AUPRC of 0.8481, and F1-score of 0.7723. These findings suggest that the three modalities provide complementary information for this composite deterioration endpoint in the internal test setting. Full article

Background: Spontaneous rectus sheath hematoma is a known but relatively rare complication of anticoagulant therapy. Because its clinical features are similar to various intra-abdominal pathologies, it is often misdiagnosed as other types of acute abdomen in emergency settings. Case Presentation: The patient presented with acute lower abdominal pain, suprapubic distension, and sudden anuria following anticoagulation therapy. Abdominal computed tomography revealed a giant pelvic mass mimicking a distended bladder, suggestive of bladder tamponade. A percutaneous cystostomy was then performed, which, however, drained a large volume of non-clotted blood rather than blood clots. Subsequent radiological and clinical evaluation confirmed a giant spontaneous rectus sheath hematoma. Given the patient’s critical condition and poor prognosis, after thorough discussion with the family, the decision was made to transfer the patient to a local hospital for continued supportive care. Conclusions: This case highlights the diagnostic challenges of giant or atypically located rectus sheath hematomas, which may clinically and radiologically mimic intra-abdominal or urological emergencies such as bladder tamponade. Conventional clinical evaluation and erroneous radiological interpretation can lead to a misdiagnosis, occasionally resulting in inappropriate invasive interventions. Recognizing specific radiological signs, such as internal fluid layering and extravesical catheter placement, combined with multiplanar computed tomography reconstruction, helps minimize diagnostic pitfalls, prevent unnecessary procedures, and optimize clinical outcomes. Full article

Background: Premature consolidation of the regenerated bone is a relevant and underreported complication of limb lengthening in achondroplasia, with a reported incidence of 7–15% in the international literature. The gain-of-function fibroblast growth factor receptor 3 (FGFR3) mutation paradoxically enhances bone-healing capacity, predisposing patients to accelerated callus maturation during distraction osteogenesis and exposing patients to a risk of invasive procedures to treat this issue. This study reports the incidence and clinical features of premature consolidation in a cohort of achondroplastic patients treated with external fixation. Methods: A retrospective analysis was conducted on patients with achondroplasia who underwent lower limb lengthening (femur and/or tibia–fibula) between 2017 and 2024 at IRCCS Ospedale Galeazzi–Sant’Ambrogio (Milan, Italy). Inclusion criteria were ages 7–18 years, confirmed achondroplasia, and a clinical–radiological diagnosis of premature consolidation. Key parameters included the healing index (HI), length gained, proportional increase, and fixator duration. Results: Among 39 patients (112 segments: 46 femora and 66 tibia–fibula units), premature consolidation occurred in 7 patients (10 segments), yielding an overall incidence of 8.9%. The fibula was predominantly affected (6/10 segments). The mean HI was 33.47 days/cm for the tibia and 30.1 days/cm for the femur; the mean length gained was 8.1 cm and 8.2 cm, respectively. Conclusions: Premature consolidation affects approximately 9% of lengthened segments in achondroplastic patients, with a predilection for the fibula due to its passive indirect distraction mechanism. Early radiographic recognition and dynamic adjustment of the distraction protocol are essential to prevent surgical calloclasis and optimize outcomes, and further analyses of the FGFR3 mutation are fundamental to understand the biologic features of the bone during the lengthening and consolidation steps. Full article