• Stroke in a child with cutaneous naevi: a diagnostic trail toward suspected cavernoma-associated phakomatosis with histologic discordance and early multicentric recurrence-adjuvant therapeutic implications.
    6 days ago
    Phakomatoses, also known as neurocutaneous syndromes are rare disorders characterized by multisystem involvement with variable neurological manifestations in children, including intracranial vascular malformations. Cavernous malformations may present with acute haemorrhage and stroke-like symptoms. Diagnostic difficulty arises when radiologic findings suggest a benign lesion, yet histopathology reveals discordant malignant pathology.

    An 8-year-old female presented with sudden-onset left hemiparesis and recurrent seizures. Physical examination revealed multiple cutaneous naevi, raising suspicion of a syndromic association. Brain magnetic resonance imaging demonstrated a well-circumscribed right parietal intra-axial lesion with a "popcorn" appearance and hypointense susceptibility blooming, highly suggestive of a cavernous malformation. Cranial computed tomography scan subsequently showed an associated large intracerebral haematoma. The patient underwent right parietal craniotomy with haematoma evacuation and excision of the lesion. The immediate postoperative course was initially satisfactory with neurological improvement. Histopathological examination of the excised specimen, however, revealed a malignant neoplasm, establishing a significant radiologic-histologic discordance which fundamentally altered the diagnostic interpretation. The patient had a relapse of symptoms two months after surgery, with repeat neuroimaging showing multicentric tumour recurrence, necessitating referral for adjuvant neuro-oncologic management.

    This case illustrates a rare diagnostic pitfall and challenge in paediatric neurosurgery, where a malignant intracranial tumour mimicked a cavernous malformation in the context of cutaneous stigmata. The report emphasizes the limitations of neuroimaging alone and underscores the importance of careful clinicoradiologic correlation, histopathological confirmation, and multidisciplinary evaluation when managing presumed vascular lesions in children, particularly in resource-limited settings.
    Cancer
    Cardiovascular diseases
    Care/Management
  • A primary subcutaneous sarcoma with ATXN1::DUX4 fusion: the first report in soft tissue and further evidence for a CIC/ATXN1 pathway-altered sarcoma family.
    6 days ago
    We present a case of a primary subcutaneous sarcoma harboring an ATXN1::DUX4 gene fusion in a 52-year-old female, representing to our knowledge the first documented occurrence of this molecular subtype arising in soft tissue. The tumor presented as a painless back mass, clinically mimicking a lipoma. Histologic examination revealed an aggressive neoplasm with round to epithelioid morphology, high mitotic activity (30/2 mm2), geographic necrosis, and focal myxoid stroma. Immunohistochemically, the tumor showed focal strong ALK (D5F3) expression, partial membranous CD99 positivity, and focal nuclear WT1 expression (with diffuse non-specific cytoplasmic staining). A broad panel of other lineage-specific markers was negative, while INI1 and BRG1 expression was retained. ALK and CIC break-apart fluorescence in situ hybridization (FISH) were negative. Targeted RNA sequencing identified an in-frame ATXN1::DUX4 fusion (exon 8 to exon 1), which retains the AXH domain of ATXN1. The fusion was validated by RT-PCR and Sanger sequencing, and an ATXN1 break-apart FISH assay confirmed rearrangement in 65% of tumor nuclei. DNA methylation analysis demonstrated that the tumor clustered with CIC-rearranged sarcomas.The patient experienced local recurrence five months after resection despite adjuvant chemotherapy. Recent functional studies have demonstrated that ATXN1::DUX4 activates CIC target genes in an AXH domain-dependent manner, supporting its classification within the emerging family of CIC/ATXN1 pathway-altered sarcomas. This case expands the anatomic spectrum of ATXN1::DUX4-fusion sarcomas and provides further epigenetic evidence supporting their inclusion within the CIC/ATXN1 pathway-altered sarcoma family.
    Cancer
    Care/Management
  • Dual-modality imaging enables longitudinal biodistribution profiling of intracerebroventricular CAR-T therapy in orthotopic glioma.
    6 days ago
    Locoregional CAR-T delivery is increasingly explored for glioblastoma to improve intracranial tumor exposure; however, organ-level biodistribution kinetics after intracranial administration remain poorly quantified in vivo, limiting route-informed optimization and preclinical risk assessment. Here, we report a dual-modality cell labeling and tracking strategy based on indocyanine green-conjugated iron nanoparticles (ICG-NPs) for in vivo assessment of B7-H3-targeting CAR-T cell (TX103) biodistribution using second near-infrared window (NIR-II) fluorescence imaging and magnetic resonance imaging (MRI). Using a heparin-protamine-assisted protocol, TX103 cells were labeled with high efficiency (83.1%) without detectable changes in viability, CAR expression, immunophenotype (including activation/exhaustion marker profile and CXCR3 expression), or cytotoxic function. In vitro imaging demonstrated a linear correlation between NIR-II fluorescence intensity and labeled cell numbers (R2 = 0.973, p < 0.001), while MRI provided complementary anatomical context at higher cell densities. In an orthotopic glioma mouse model, longitudinal MRI and NIR-II imaging captured route-dependent differences in tumor-associated localization and whole-body biodistribution following intracerebroventricular and intravenous administration. Furthermore, organ-level NIR-II exposure showed a positive association with CD3⁺ T-cell density across organs (R2 = 0.552, p < 0.001), supported by multi-organ pathological validation. Collectively, we establish a biocompatible dual-modality workflow that links intracranial anatomical localization with longitudinal whole-body biodistribution readouts for preclinical CAR-T tracking in solid tumor models.
    Cancer
    Care/Management
  • A Call for a Collaborative Framework for Automation in Adaptive Radiotherapy.
    6 days ago
    Adaptive radiotherapy (ART) has been shown to improve geometric and dosimetric accuracy, with emerging evidence for clinical benefit, but it remains resource-intensive and lacks scalability. This limitation arises from multiple factors, including the complexity of current systems, the closed and proprietary nature of radiotherapy platforms, and the need for human oversight driven in part by clinical risk considerations. Historically, major advances in radiotherapy-from Intensity-Modulated Radiation Therapy (IMRT) and Image-Guided Radiation Therapy (IGRT) to Magnetic Resonance-guided Radiotherapy (MRgRT) and Deep Learning in Radiotherapy (DLinRT) (particularly for auto-contouring)-have thrived through open collaboration and transparency. The community can accelerate ART innovation by returning to this model. Open-source initiatives such as Computational Environment for Radiotherapy Research (CERR), Open Knowledge-based Planning (OpenKBP), and matRad demonstrate how shared tools and methods improve reproducibility and drive scientific progress. The next critical step is to develop collaborative, structured frameworks that enable safe, secure interaction between academic and vendor systems-safeguarding intellectual property while fostering co-development and validation. Through structured transparency and shared accountability, the radiotherapy field can transform automation from a closed, non-transparent architecture into a collective learning ecosystem, ultimately extending the life-saving benefits of ART to more patients worldwide through openness, trust, and collective innovation.
    Cancer
    Care/Management
  • COGNITIVE RESERVE IN PATIENTS AFTER CORONAVIRUS INFECTION.
    6 days ago
    Despite the growing evidence of persistent cognitive dysfunction after COVID-19, the role of cognitive reserve as a modifying factor of post-infectious neurocognitive outcomes remains insufficiently explored, particularly in relation to disease severity and premorbid lifestyle characteristics.

    To analyze the characteristics of cognitive reserve in patients after SARS-CoV-2 infection and to assess its impact on the structure and severity of post-COVID cognitive impairments.

    The study included 247 patients aged 31-67 years who had recovered from COVID-19 (93 hospitalized and 154 treated on an outpatient basis) and 50 age-matched controls without a history of COVID-19. Cognitive reserve and related factors were assessed using the Cognitive Reserve Questionnaire (CRQ), Test of Premorbid Functioning (TOPF), Montreal Cognitive Assessment (MoCA), Trail Making Test A/B, Digit Span Backward, and semantic verbal fluency test. Premorbid lifestyle characteristics, occupational cognitive complexity, physical activity, disease severity, body mass index, and inflammatory markers (peak C-reactive protein) were recorded. Multivariate linear regression models were constructed with global cognitive performance (MoCA score at 12 months) as the dependent variable.

    Post-COVID patients demonstrated significantly lower CRQ total scores compared with controls (7.82±0.12 vs 9.41±0.15; p<0.001), with the lowest values observed in hospitalized patients. Educational level and premorbid intelligence (TOPF) did not differ between groups, indicating preserved premorbid cognitive capacity. Reduced CRQ scores were primarily driven by lower occupational cognitive complexity and diminished cognitively active lifestyle, suggesting impaired utilization of cognitive reserve rather than loss of reserve capacity. MoCA scores were significantly lower in post-COVID patients (25.4±0.19 vs 27.8±0.22; p<0.001), with predominant impairment of executive functions, attention, and processing speed. In multivariate analysis, better cognitive outcomes were independently associated with higher CRQ scores, greater occupational complexity, and higher premorbid physical activity, while disease severity, elevated inflammatory markers, and older age were associated with poorer MoCA performance (Adjusted R²=0.521; p<0.001).

    Post-COVID cognitive impairment occurs despite preserved premorbid cognitive reserve and is characterized by reduced utilization and engagement of reserve mechanisms, particularly following severe disease.
    Chronic respiratory disease
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  • Implementation of High-Flow Nasal Cannula and Noninvasive Ventilation During Pediatric Interfacility Transport: Effect on Intubation Rates.
    6 days ago
    Previously, young children had limited respiratory support options during interfacility transport. Recently, high-flow nasal cannula (HFNC) and noninvasive ventilation (NIV) have become available for pediatric transport. We hypothesized that the implementation of HFNC and NIV on interfacility transport decreases the rate of intubation in infants and toddlers before and after transport to a tertiary-care pediatric intensive care unit (PICU).

    We conducted a retrospective chart review of children aged 30 days to < 36 months transported to a tertiary-care PICU from a referring hospital with respiratory distress from 2014 to 2019. Groups were analyzed before (2014-2017) and after the implementation (2017-2019) of HFNC and NIV during transport. NIV was defined as positive pressure ventilation delivered through nasal cannula. The primary outcome was to compare the pre- and postimplementation groups with regard to the rate of intubation before transport and within 48 hours of PICU admission. Secondary outcomes were the association between intubation rate and comorbidities and the comparison of length of respiratory support and hospital length of stay between the pre- and postimplementation groups.

    A total of 262 patients met criteria, 133 before and 129 after the intervention. The rate of intubation before PICU admission was 44% in the preintervention group versus 36% in patients transported after the implementation of HFNC and NIV, a trend that was not statistically significant (P = .19). The rate of intubation within 48 hours of PICU admission was 8% (before) and 11% (after) with no statistical significance (P = .48). Comorbidities were not associated with an increased rate of intubation before transport (P = .09) or within 48 hours of admission (P = .45). Hospital length of stay and length of respiratory support were not different between pre- and postintervention groups (P = .18 and P = .3, respectively). The availability of HFNC/NIV was associated with a significant decrease in the proportion of patients who received oxygen via nasal cannula or face mask during transport (46% before vs. 13% after the intervention; P < .01).

    After the introduction of HFNC/NIV during transport to a large tertiary-care hospital in a major metropolitan area, fewer nasal cannula/face masks were used during transport in favor of HFNC/NIV but no significant change in intubation rates was found.
    Chronic respiratory disease
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  • When Reversal Is Not Rescue: The Prehospital Sugammadex Myth in Airway Management.
    6 days ago
    Evidence supporting the use of sugammadex as a rescue strategy in prehospital "cannot intubate, cannot oxygenate" (CICO) situations remains sparse and indirect. Although contemporary airway guidelines prioritize front-of-neck access (FONA) as the definitive intervention, discussion of pharmacological reversal persists in prehospital practice, predominantly within gray literature, local protocols, and educational materials. This persistence reflects an ongoing hypothesis in prehospital airway management that warrants critical appraisal. We performed a narrative synthesis of perioperative, emergency department, and prehospital literature, including case reports, expert consensus documents, and contemporary airway guidelines, to assess whether pharmacological reversal can plausibly modify outcomes in airway failure. Across these sources, no outcome-level data support sugammadex as an effective rescue maneuver in established CICO. Perioperative CICO case series further indicate that reversal of neuromuscular blockade does not reliably resolve airway obstruction or obviate the need for surgical airway access. In the prehospital environment, rapid desaturation and limited monitoring further reduce the plausibility of pharmacological rescue once CICO has developed. For helicopter and ground emergency medical service systems, current evidence supports emphasis on early recognition of CICO, structured airway algorithms, and timely performance of FONA, rather than reliance on pharmacological reversal.
    Chronic respiratory disease
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  • Predictors of Concomitant Pulmonary Involvement in Hepatic Cystic Echinococcosis: A Clinical Risk Stratification Model.
    6 days ago
    Hepatopulmonary hydatidosis (HPH) is a clinically relevant presentation of hepatic cystic echinococcosis (CE) in which pulmonary involvement is present at the time of diagnosis. Reliable identification of patients at risk remains challenging, and indiscriminate thoracic imaging may lead to unnecessary investigations. This study aimed to identify hepatic predictors associated with concomitant pulmonary involvement and to develop a simple risk stratification model to support selective thoracic imaging.

    We conducted a retrospective cohort study of patients with confirmed hepatic CE followed at a single tertiary center. Cyst activity was classified according to the World Health Organization (WHO) staging system, and anatomical distribution was assessed using a segment-based classification. Multivariable logistic regression was performed to identify predictors of HPH. A point-based clinical risk score (HepatoMAP) was derived by combining cyst activity and anatomical distribution. Model discrimination and calibration were assessed using receiver operating characteristic (ROC) analysis, bootstrap validation, and calibration plots.

    Among 292 patients, 23 (7.8%) had hepatopulmonary hydatidosis (HPH) at initial diagnosis. Active cysts (WHO CE1-2) were strongly associated with HPH (91.3% in HPH vs. 33.2% in hepatic-only disease, p < 0.001) and remained the only independent predictor in multivariable analysis. The HepatoMAP score demonstrated good discrimination (AUC 0.83) with good calibration (bootstrap-corrected slope 0.97). No cases of HPH were observed in patients with low-risk scores (0-1 points), whereas HPH occurred predominantly in patients with scores ≥ 3.

    In hepatic CE, concomitant pulmonary involvement at baseline was strongly associated with cyst activity and showed a structured but non-independent relationship with segmental topography. The HepatoMAP score showed promising rule-out characteristics in this cohort and may support more selective use of thoracic imaging. Prospective external validation is required before routine clinical implementation.
    Chronic respiratory disease
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  • Swallowing assessment in obstructive sleep apnea: insights from surface electromyography.
    6 days ago
    To investigate the electromyographic activity (sEMG) of the suprahyoid/submental (SH) muscles during swallowing in adults with different OSA severities, controlled for body mass index (BMI), and to establish predictive factors for changes in muscle activity.

    This cross-sectional observational study included 37 adults diagnosed with OSA (AHI > 5). The patients were divided into two groups according to the apnea-hypopnea index (AHI): Group I (AHI = 5 ≤ 30) and Group II (AHI > 30). sEMG activity was recorded during the voluntary swallowing of 10 mL and 15 mL of thin liquid (water). The sEMG peak, integral, and maximum velocity (Vmax) were calculated. Groups were compared by general multivariate analysis of covariance, with BMI as a covariate. A general multivariate linear regression model (GRM) was applied to analyze the contribution of predictors to the EMG parameters. The significance level was set at p < 0.05.

    There was a predominance of males (n = 24, 64.9%) and obese individuals (BMI > 30, n = 25, 67.6%) in the sample. Compared with Group I, Group II presented significantly lower peak, Vmax and integral values (P ≤ 0.006). The GRM revealed that the peak and integral were explained by the AHI and BMI, whereas the tongue volume and behavior during swallowing together explained the Vmax.

    Activation of the suprahyoid (SH) muscles was reduced in patients with severe OSA. In addition to disease severity, BMI and the myofunctional condition of the tongue also contribute to impaired activation. Taken together, these findings indicate that muscle weakness and deficits in motor control compromise the activation of SH muscles during swallowing.
    Chronic respiratory disease
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  • Nanomedicine-based theranostics in atherosclerotic cardiovascular diseases.
    6 days ago
    Current treatment for atherosclerotic cardiovascular diseases (ASCVD) mainly focuses on the modification of systemic risk factors, such as hyperglycemia and hyperlipidemia. Despite significant efforts and expanse, achieving early and proper diagnosis of ASCVD to improve clinical outcomes remains challenging, and vascular-targeted therapies or genetic editing, while ideal, are still limited. The development of nanomedicine-based mRNA vaccines for SARS-CoV-2 has demonstrated the potential of nanotechnology to target previously inaccessible molecules. Precision therapies by nanomedicine targeting specific tissues/molecules hold potential for new treatment paradigms by precisely modulating disease-causing molecular pathways within diseased tissues, including dysfunctional vasculature. By leveraging insights into the pathogenic contributors of atherogenesis, researchers have optimized nanoplatforms' composition, synthesis strategies, and surface design to enhance therapeutic efficacy and enable early diagnosis. Herein, we present an updated overview of therapeutic and diagnostic strategies using nanomedicine for ASCVD, and explore future research directions and innovative approaches for nanomedicine-driven theranostics in cardiovascular care.
    Chronic respiratory disease
    Cardiovascular diseases
    Care/Management