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GLI1-Altered neoplasms: From molecular alterations to morphologic and phenotypic features with formal recognition in the upcoming WHO Classification of soft tissue tumors.3 weeks agoGLI1-altered mesenchymal tumors represent a recently defined group of neoplasms molecularly characterized by GLI1 gene fusions or amplifications. Although initially thought to share similar molecular alterations, including pericytoma with ACTB::GLI1 fusion, plexiform fibromyxoma, and gastroblastoma, these tumors are now recognized as distinct entities with specific clinicopathological features. Histologically, GLI1-altered mesenchymal tumors typically exhibit a multinodular growth pattern composed of relatively uniform epithelioid-to-ovoid cells arranged in nested formations. These nests are supported by a delicate arborizing capillary network and are often embedded in a myxoid stroma. Immunohistochemically, variable positivity for CD56, S100, CD10, smooth muscle actin, cyclin D1, and p16 has been reported. GLI1 immunohistochemistry is both highly sensitive and specific, serving as a valuable diagnostic marker in the appropriate context. Some GLI1-amplified tumors may show co-amplification of neighboring genes, including STAT6, MDM2, CDK4, and DDIT3, which can result in variable immunoreactivity depending on amplicon size. These tumors can arise at a broad range of anatomical sites and occur across all age groups. Although GLI1-altered mesenchymal neoplasms were initially considered indolent, malignant cases with metastatic potential have been reported. Necrosis, high mitotic index, and large tumor size are associated with an increased risk of metastasis. Tumors with GLI1 amplification generally demonstrate worse clinical outcomes than those driven by GLI1 fusions. Definitive diagnosis requires molecular confirmation via next-generation sequencing and/or fluorescence in situ hybridization. Accurate recognition of GLI1-altered mesenchymal tumors has important diagnostic, prognostic, and therapeutic implications. Herein, we describe the clinicopathologic features of GLI1-altered neoplasms, including their molecular findings and the differential diagnosis with other tumors exhibiting overlapping morphology and immunoprofile.CancerCare/Management
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Ear-nose-throat manifestations of granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis: a cross-sectional study.3 weeks agoEar, nose and throat (ENT) involvement is a frequent and early manifestation of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). This study aimed to comprehensively evaluate and compare ENT features in patients with granulomatosis with polyangiitis (GPA) and eosinophilic granulomatosis with polyangiitis (EGPA). In this cross-sectional study, 50 consecutive patients with GPA (n = 35) and EGPA (n = 15) were recruited from Rheumatology and ENT clinics at King Saud University Medical City, Riyadh, Saudi Arabia. Patients underwent clinical, audiological, imaging, and laboratory assessments. ENT evaluation included otologic, sinonasal, and laryngeal examinations, supplemented with standardized questionnaires and audiometry. Upper airway involvement was highly prevalent (90%) in both groups. Pulmonary involvement was more frequent in EGPA, whereas renal involvement did not differ significantly between the groups. Hearing loss, including subclinical sensorineural forms, occurred in 50% of patients and was associated with older age at diagnosis (≥ 34 years) and longer disease duration (median 8 vs. 1.5 years, p = 0.01). Otologic involvement did not differ between GPA and EGPA. Sinonasal manifestations varied: nasal edema, allergic rhinitis, and polyposis were more frequent in EGPA, whereas destructive lesions, including saddle-nose deformity, occurred only in GPA. Laryngeal involvement was present in 46%; subglottic stenosis occurred only in GPA (14%) and was absent in EGPA. ENT involvement is common in both GPA and EGPA, with distinct sinonasal and laryngeal patterns. Hearing loss is frequent and often subclinical, highlighting the importance of audiometric and tailored ENT assessments. Further prospective studies are needed to determine the value of routine audiometric screening.Chronic respiratory diseaseCardiovascular diseasesAccessCare/ManagementAdvocacy
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Environmental tobacco smoke and sleep fragmentation in children with suspected sleep apnea.3 weeks agoMost studies in children using questionnaires or home polygraphy indicate that exposure to environmental tobacco smoke (ETS) is a significant risk factor for insomnia, snoring, and sleep-disordered breathing (SDB); however, objective polysomnographic evidence in suspected SDB is limited. We prospectively assessed ETS-sleep associations using urinary cotinine and overnight polysomnography in 30 children (mean age 5.8 ± 2.4 years; range 1-12; 73% boys) referred for SDB. Parents completed validated questionnaires on sleep and household ETS, and an Enzyme-Linked Immunosorbent Assay measured urinary cotinine. 46% had at least one smoking parent. Cotinine correlated with reported ETS exposure (r = 0.55, p = 0.03), supporting questionnaire validity. ETS exposure was not associated with apnea-hypopnea or oxygen desaturation indices, but exposed children had a 67% higher arousal index (p = 0.03), reflecting greater sleep fragmentation. Higher cotinine levels correlated with shorter sleep duration (r = - 0.36, p = 0.02) and lower sleep efficiency (r = - 0.43, p = 0.02). These findings indicate that ETS adversely affects sleep independent of respiratory events, highlighting a modifiable risk with measurable biomarker-linked impacts on pediatric sleep. Reducing ETS exposure may improve sleep quality even in children with SDB.Chronic respiratory diseaseAccessAdvocacy
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Open dataset and deep learning model for intelligent diagnosis of neonatal respiratory distress syndrome and aspiration syndrome in newborns.3 weeks agoNeonatal pulmonary diseases such as aspiration syndrome (AS) and respiratory distress syndrome (NRDS) require timely diagnosis, yet manual interpretation of neonatal X-rays is labor-intensive and subjective. To support AI-assisted diagnosis, we constructed the first Chinese neonatal pulmonary ailment dataset (NPA), covering both normal and diseased cases of varying severity. However, the NPA dataset exhibits severe class imbalance, and traditional augmentations randomly mix lesions, often corrupting pathological semantics. To address this, we propose a Polluted CutMix framework that selectively blends normal and diseased images, ensuring meaningful lesion synthesis, and an uncertainty-aware module that filters unreliable pseudo-labels during training. The novelty of this work lies in (1) introducing the first neonatal pulmonary dataset and (2) unifying targeted augmentation with uncertainty modeling for robust learning under data imbalance. On the NPA dataset, our approach surpasses existing baselines by 4-7% in classification accuracy, demonstrating improved generalization and diagnostic reliability. We hope that our novel framework and dataset will inspire further research in this field.Chronic respiratory diseaseAccess
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Sharpness matters: Higher image resolution improves generalization and explainability in chest X-ray classification.3 weeks agoDeep learning (DL) chest radiograph (CXR) models are often trained on downsampled images to reduce computational overhead, despite clinical workflows operating at high resolution. Previous studies have investigated the impact of input resolution on CXR classification accuracy, yet two fundamental pillars of safe and trustworthy AI, explainability and generalizability, remain underexplored. In this retrospective study, we evaluated how training image resolution affects CXR classification performance and explanation quality in internal versus external testing. We trained Convolutional Neural Networks (CNN) for disease classification on the SIIM-ACR Pneumothorax and RSNA Pneumonia datasets at six resolutions (ranging from 64×64 to 1024×1024) using five-fold cross-validation and evaluated models on internal and external test sets. Internal performance was high across resolutions (AUROC >0.85), but external testing showed substantially worse generalizability at lower training resolutions, with internal-to-external drops >20% versus 4.2%-10.7% at higher resolutions (512×512 to 1024×1024). Higher resolutions also produced more concise explanations, with the tightest saliency-map coverage at 1024×1024 (<4%) across models and datasets, and improved explanation quality on external data (peak precision plateauing at 768×768 for pneumothorax). Overall, training at higher CXR resolutions improved both generalizability and explainability, providing practical guidance for radiology AI design beyond internal test performance.Chronic respiratory diseaseAccessCare/ManagementAdvocacy
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[Acupoint catgut embedding for allergic rhinitis: a randomized controlled trial].3 weeks agoTo observe the clinical efficacy of acupoint catgut embedding for allergic rhinitis (AR), and to explore its mechanism of action.
Eighty patients with AR were randomly divided into an observation group and a control group, with 40 patients in each group. The observation group received acupoint catgut embedding therapy, with bilateral Yingxiang (LI20) as the main acupoints and additional acupoints according to syndrome differentiation. Catgut embedding was performed once every 2 weeks, for a total of 2 treatments. The control group received oral loratadine tablets. Both groups were treated for 4 weeks. Total nasal symptom scores (TNSS) and rhinoconjunctivitis quality of life questionnaire (RQLQ) scores were observed before treatment, after 2 weeks of treatment, after 4 weeks of treatment, and at 1-month follow-up after treatment in both groups. The levels of immunoglobulin E (IgE), interleukin (IL)-4, interferon-γ (IFN-γ), IL-12, and IL-13 in nasal lavage fluid were detected before and after treatment in both groups. Clinical efficacy was evaluated after treatment.
After 2 weeks of treatment, after 4 weeks of treatment, and at follow-up, TNSS and RQLQ scores in both groups were lower than those before treatment (P<0.05). After 4 weeks of treatment and at follow-up, TNSS and RQLQ scores in the observation group were lower than those in the control group (P<0.001). After treatment, the levels of IgE, IL-4, and IL-13 in nasal lavage fluid were decreased compared with those before treatment in both groups (P<0.001, P<0.05, P<0.01), and the levels of IFN-γ and IL-12 were increased compared with those before treatment in both groups (P<0.001, P<0.01, P<0.05); the levels of IgE, IL-4, and IL-13 in nasal lavage fluid in the observation group were lower than those in the control group (P<0.05, P<0.001), and the levels of IFN-γ and IL-12 were higher than those in the control group (P<0.05). The total effective rate in the observation group was 95.0% (38/40), higher than 82.5% (33/40) in the control group (P<0.05).
Acupoint catgut embedding could improve clinical symptoms in patients with AR, and may exert its therapeutic effect by modulating immune balance.Chronic respiratory diseaseAccessCare/Management -
[Dyspnea as a presenting symptom in the emergency department - From triage through rational diagnosis to evidence-based patient pathways].3 weeks agoAccounting for 4-8% of all patients in emergency departments, dyspnea is one of the most common presenting symptoms 11 22. Its clinical significance is reflected in the high rate of admission to the intensive care unit (16-18%) 11 and an in-hospital mortality rate of approximately 9% 22. The concurrent presence of multiple organ pathologies often poses a diagnostic challenge 33. This article translates the current evidence from 2025/2026 into action-oriented strategies: from pathophysiology and AI-supported triage to critical airway management and the discussion of specialized dyspnea units 44.Chronic respiratory diseaseAccessCare/Management
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Long-Term Exposure to Particulate Matter 2.5 and Ozone and the Risk of Acute Respiratory Infections: Community-Based Prospective Cohort Study.3 weeks agoAcute respiratory infections (ARIs) remain a major global health concern. Although long-term air pollution exposure has been linked to ARIs, prospective evidence from community-based populations remains limited.
This study aimed to quantify the burden of ARIs in the community and examine the associations between long-term exposure to particulate matter 2.5 (PM2.5) and ozone (O3) and the risks of ARIs, with additional analyses using influenza-like illness (ILI) as a more specific outcome.
We conducted a prospective cohort study including 3617 residents in Shanghai, China, who were followed weekly for 1 year. Individual-level exposure to PM2.5 and O3 concentrations was estimated using high-resolution datasets. Cox proportional hazards models with shared frailty were applied to assess associations with ARIs. Exposure windows of 3, 6, 9, and 12 months were evaluated, and the optimal window was selected based on the Akaike information criterion. Effect estimates were reported per IQR increase. Dose-response relationships, subgroup analyses, and multiple sensitivity analyses were performed.
During 3217 person-years of follow-up, 885 ARI events were documented (0.27 per person-year). In the fully adjusted model using the 12-month exposure window, each IQR increase in PM2.5 was associated with higher risks of ARIs (hazard ratio [HR] 1.594, 95% CI 1.340-1.897), with stronger associations observed for ILI (HR 1.948, 95% CI 1.484-2.557). For O3, the corresponding HRs were 1.510 (95% CI 1.135-2.007) for ARIs, with stronger associations for ILI (HR 2.229, 95% CI 1.385-3.588). PM2.5 showed a nonlinear association with ARIs, whereas linear relationships were observed for PM2.5 with ILI and O3 with both outcomes. Evidence of effect modification was observed by age, residence, and season for PM2.5 and by season for O3. Results were robust across multiple sensitivity analyses.
Long-term exposure to PM2.5 and O3 is associated with increased risk of ARIs, with similar associations observed for ILI. These findings highlight the importance of long-term air pollution control and targeted interventions for susceptible populations, particularly during cold seasons.Chronic respiratory diseaseAccessAdvocacy -
As Health Systems Emerge from Financial Strain, Cost Pressures and Workforce Concerns Remain.3 weeks agoThe financial health of health care organizations has improved somewhat since the Covid-19 health emergency. But NEJM Catalyst Insights Council members say that cost pressures continue to strain profitability, particularly within the U.S.Chronic respiratory diseaseAccessAdvocacy
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ProtekDuo Cannulation via Right External Jugular Vein: A First in Man Method Description.3 weeks agoIndividuals requiring transplantation represent the sickest cohort of patients with end-stage lung failure. Commonly, they have multiple comorbidities that carry significant risk for post-transplant recovery. Clinical circumstances, such as widespread clots and vascular thrombosis, require novel approaches in attempt to provide extracorporeal life support. We present a patient, who developed respiratory failure during recovery from bilateral lung transplantation, complicated by internal jugular vein thrombosis and an inferior vena cava filter in situ. She was cannulated with a ProtekDuo via the right external jugular vein due to lack of other patent vessels, representing a first in man method description.Chronic respiratory diseaseCardiovascular diseasesAccessCare/Management