• Clinico-Pathological Discordance in a Partial Hydatidiform Mole With Coexisting Live Fetus and Subsequent Aggressive Gestational Trophoblastic Neoplasia: A Case Report.
    3 days ago
    Twin pregnancies with a partial hydatidiform mole and a coexisting live fetus are exceptionally rare, and progression to chemoresistant gestational trophoblastic neoplasia (GTN) is even less common. We report the case of a 28-year-old nulligravid woman with prior ovulation induction who presented with a twin pregnancy consisting of a partial hydatidiform mole and a coexisting live normal fetus. Following spontaneous abortion and uterine evacuation, histopathological examination and immunohistochemistry demonstrated p57 positivity, supporting the diagnosis of partial hydatidiform mole, and a normal placental tissue with a fetus without malformations. Despite apparently favorable pathological findings, the patient developed giant theca-lutein cysts complicated by ovarian torsion, progression to GTN, resistance to methotrexate and actinomycin-D, and subsequent pulmonary metastasis. Multi-agent chemotherapy with EMA-CO (etoposide, methotrexate, actinomycin-D, cyclophosphamide, and vincristine) achieved complete clinical and biochemical remission, with no evidence of recurrence after three years of follow-up. This case highlights that partial hydatidiform mole with a coexisting live fetus may rarely exhibit aggressive clinical behavior despite reassuring histopathological and immunohistochemical features. Careful clinical and human chorionic gonadotropin surveillance remains essential in complex molar pregnancies.
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  • Giant Lipoma of the Thumb Pad in a Confined Space: A Clinical Case.
    3 days ago
    Lipomas are among the most common benign soft-tissue tumors; however, their occurrence in the hand is uncommon, and giant lipomas in this location are particularly rare. Due to the limited anatomical space in the hand, these lesions can cause functional impairment and compression symptoms. We present the case of a 73-year-old woman who presented for evaluation with a six-year history of a mass in the right thenar region that had been progressively increasing in size, accompanied by pain during active thumb movements (flexion, adduction, and opposition), paresis, and decreased pinch strength. Physical examination revealed a soft, mobile mass with mild tenderness on palpation and reduced range of motion in the thumb. Imaging studies revealed a well-defined lipomatous lesion measuring 5 × 3 cm, with no findings suggestive of malignancy. The lipoma was excised via a thenar approach, revealing a well-encapsulated mass located beneath the flexor pollicis brevis muscle, with no involvement of adjacent neurovascular or tendinous structures. A complete resection was performed, and histopathological evaluation confirmed the diagnosis of lipoma. The patient had an uneventful postoperative course, and no complications were observed during follow-up. Although lipomas are common, their occurrence in the hand is less frequent and can complicate surgical access and hand function. Giant lipomas can cause compression symptoms due to the limited space in the hand, which may lead to sequelae. Imaging studies assist us in preoperative planning and in ruling out malignant neoplasms. Complete surgical excision remains the treatment of choice, yielding good results when adjacent structures are preserved. Giant lipomas of the hand, especially in the thenar region, are rare conditions that can significantly impair hand function. Early detection and appropriate surgical treatment are essential to prevent disease progression and restore hand function.
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  • Tracheobronchial invasion by nontuberculous mycobacteria: a rare but overlooked clinical manifestation-a multicenter retrospective analysis.
    3 days ago
    Nontuberculous mycobacteria (NTM) can disseminate and infect various organs throughout the body. However, whether NTM can infect tracheobronchial tissue is rarely reported. This study aimed to address the knowledge gap regarding the epidemiological, demographic, and clinical characteristics of patients with tracheobronchial NTM infection.

    In this multicenter retrospective cohort study, clinical, demographic, microbiological, and radiological data from hospitalized patients with tracheobronchial NTM infections from January 2015 to May 2025 were collected and analyzed descriptively.

    Twenty-nine patients (2.3%) were included, and all the patients presented with disseminated NTM infection. Seventeen patients had comorbidities, including 5 with acquired immunodeficiency syndrome and 1 with anti-interferon-γ autoantibody syndrome. Median diagnostic delay was 130 days, and 89.7% of the patients were initially misdiagnosed with tuberculosis or malignancy. The most common symptoms were cough, expectoration, anemia, fever, weight loss, skin lesions, and bone pain. Chest CT revealed nodules, patchy opacities, mass-like shadows, and bronchial stenosis, with or without hilar/mediastinal lymphadenopathy, whereas osteolytic bone destruction was evident in 11 patients. The most common features of bronchoscopy were intraluminal masses/neoplasms/nodules. Metagenomic next-generation sequencing (mNGS) of BALF (n=12) demonstrated 100% positivity, outperforming BALF culture (46.2%, 12/26) and sputum culture (39.3%, 11/28). Mycobacterium colombiense accounted for 24.1% of cases. With respect to therapeutic management, 27 patients received systemic antimicrobial therapy, while 2 did not receive specific anti-N™ treatment. One patient underwent combined endoscopic resection. Overall, 23 patients (79.3%) achieved improvement or cure, 5 showed disease progression, 1 experienced relapse, and 1 died.

    Tracheobronchial NTM infection is rare but clinically significant, often occurring in the context of disseminated disease with pulmonary involvement. Immunocompromised hosts, particularly those with AIDS or anti-IFN-γ autoantibody syndrome, are highly susceptible. Bronchoscopy typically reveals mass lesions causing luminal stenosis or occlusion. In this cohort, M. colombiense was the most frequently isolated NTM species. Early bronchoscopy, mNGS-based pathogen detection, and timely systemic or endoscopic intervention should be considered to prevent irreversible airway stenosis. Further studies are needed to validate optimal treatment strategies.

    https://www.ClinicalTrials.gov, identifier NCT07377864.
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  • Activin Signaling Inhibitors in Pulmonary Hypertension: A State-of-the-Art Review.
    3 days ago
    Pulmonary arterial hypertension (PAH) is a disease of abnormal pulmonary vascular remodeling and vascular obliteration that results in right heart failure and death. PAH pathogenesis is strongly associated with mutations of the Transforming Growth Factor Beta (TGF-β) superfamily signaling pathway, which has previously been challenging to target therapeutically. Sotatercept, a fusion protein of the extracellular portion of the activin type 2 receptor A (ACVR2A) and the human IgG1 Fc domain, is the first activin signaling inhibitor (ASI) FDA-approved for the treatment of PAH, demonstrating efficacy across the risk spectrum in PAH. This soluble protein binds to a range of circulating TGF-β superfamily ligands, including activins A and B, growth and differentiation factors (GDFs) 8 and 11, as well as some bone morphogenetic proteins (BMPs). Other ASIs have been developed primarily for hematologic indications, such as anemias and cytopenias associated with β-thalassemia, myelodysplastic syndromes, and myelodysplastic neoplasms. Fundamental questions remain regarding the basic biological mechanisms of ASIs, their short- and long-term side effect profiles, and their potential utility across the spectrum of different etiologies of pulmonary hypertension (PH). In this state-of-the-art review, we brought together basic and clinical researchers, and industry scientists under the umbrella of the Pulmonary Vascular Research Institute (PVRI) Innovative Drug Discovery Initiative (IDDI) to discuss the biology of ASIs, the importance of specific BMP ligands, efficacy and side effect profiles, and considerations in the development of next-generation ASIs.
    Cancer
    Cardiovascular diseases
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  • Elastofibroma Dorsi: Demographic, Clinical, and Radiological Assessment: A Retrospective Study.
    3 days ago
    Elastofibroma dorsi (ED) is a rare, slow-growing benign soft tissue mass that typically develops beneath the scapula. It often remains asymptomatic and is incidentally discovered during imaging conducted for other reasons. When symptoms do manifest, they are generally mild and associated with shoulder movement. Due to the potential for ED to mimic more serious conditions on imaging, it is crucial to recognize its characteristic features. This study aimed to evaluate the demographic, clinical, and imaging characteristics of ED in a cohort of patients.

    This retrospective observational study was conducted using imaging and clinical records archived at a single radiology center. Data were collected from two distinct periods (2013-2016 and 2022-2024) to enhance the study's statistical power and achieve a larger sample size. Scans were included if both the scapular and axillary regions were clearly visible and if complete clinical data were available. Patients with poor image quality, incomplete records, or a history of scapular surgery or malignancy were excluded. Three experienced radiologists independently evaluated the images for predefined features of ED. Cases with disagreement or atypical findings were referred for biopsy. Clinical data, including age, sex, handedness, BMI, symptoms, and occupation, were recorded. Lesion characteristics were quantitatively assessed, and statistical tests were employed to examine associations between clinical variables, lesion features, and interobserver agreement.

    The prevalence of ED was 1.1% based on 13,042 imaging records. The majority of patients (69%) were women. The overall mean age ± SD was 62.7 ± 7.3 years, with the highest frequency observed in individuals over 50 years of age. Among right-handed patients, 82% (n=112) had unilateral lesions on the right side, while 75% (n=6) of left-handed patients exhibited unilateral lesions on the left side. A total of 63.3% (n=91) of the patients were asymptomatic, with the prevalence of symptoms significantly higher in women (43.4%) compared to men (22.2%). The overall mean lesion size was 55 × 36 mm, which was significantly larger in the heavy manual labor group (mean area = 3060 mm2, SD=450 mm2, P<0.05). In the subgroup analysis of bilateral lesions, the dominant side demonstrated a significantly larger mean lesion area than the non-dominant side (1536 mm2 vs. 1120 mm2, P<0.05). Furthermore, we found that symptomatic patients also had a markedly higher mean lesion area (2257 mm2 vs. 1705 mm2). The mean ± SD HU of the lesions was 33 ± 4.1 (range, 19-48), compared to 46 ± 3.7 (range, 35-55) for the adjacent muscle.

    Elastofibroma dorsi is more prevalent among women. Most patients remain asymptomatic, and the majority of lesions present unilaterally, in accordance with handedness. Occupational physical activity levels were positively correlated with lesion size, and larger lesions were associated with the presence of symptoms. In bilateral cases, the lesion on the dominant side exhibited greater dimensions than that on the non-dominant side.
    Cancer
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  • [Childhood cancer in Uruguay: A public-private partnership that delivers equity, science, and resultsCâncer infantil no Uruguai: uma parceria público-privada que promove a equidade, a ciência e os resultados].
    3 days ago
    Pediatric cancer poses a public health challenge, especially in low- and middle-income countries. Uruguay, a high-income country, has achieved an overall 5-year survival rate of over 79.6% among pediatric patients. The clinical results exceed the 60% target set by the World Health Organization (WHO)'s Global Initiative for Childhood Cancer (GICC). The model is fully aligned with WHO's CureAll strategy, emphasizing universal coverage at no cost to the patient and the integration of psychosocial support. The purpose of this report is to outline the structure of the care model for children and adolescents with cancer in Uruguay, in the context of the GICC guidelines.Uruguay's National Integrated Health System guarantees universal coverage. Under specific legislation, a strategic partnership has been established between the State Health Services Administration (ASSE) and the Pérez Scremini Foundation (FPS) for the management of the national referral center. The FPS provides care for approximately 70% of pediatric cancer patients in partnership with the public children's hospital. It has mixed financing: ASSE contributes approximately 35% of the budget, covering general hospital supplies and services, while the FPS relies on donations to fund the remaining 65%, including home-based care and the administration of benefits. This structure ensures operational independence and the ability to make rapid investments without losing the support and nationwide coverage provided by the public system.
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  • Comparison of Laparoscopic and Open Surgery for Appendiceal Mucocele in Terms of Safety and Feasibility.
    3 days ago
    Appendiceal mucocele (AM) is a rare clinicopathological entity, and the optimal surgical approach remains controversial because of concerns regarding intraoperative rupture and mucin spillage. This study aimed to compare laparoscopic surgery (LS) and open surgery (OS) in patients with AM in terms of perioperative safety, postoperative recovery, and pathological outcomes.

    This retrospective single-center study included 53 patients who underwent surgery for AM between January 2010 and January 2026. Patients were divided into LS and OS groups. Demographic and clinical characteristics, operative findings, postoperative outcomes, and histopathological results were compared between the groups.

    Of the 53 patients, 20 underwent LS and 33 underwent OS. Baseline clinical characteristics were generally comparable between the groups, although female sex was more frequent in the LS group. Operative time, surgical procedure distribution, intraoperative perforation findings, intraoperative mucocele rupture, Clavien-Dindo scores, morbidity, readmission, and reoperation rates were not significantly different between the groups. LS was associated with earlier return of bowel function, earlier tolerance of a soft diet, and shorter postoperative hospital stay. Low-grade appendiceal mucinous neoplasm was the most common histopathological diagnosis, and pathological diagnosis distribution and surgical margin positivity were comparable between the groups.

    LS may be considered a safe and feasible alternative to OS in selected patients with AM, providing comparable perioperative and pathological outcomes with more favorable short-term postoperative recovery. Careful patient selection, meticulous surgical technique, and readiness for conversion remain essential.
    Cancer
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  • Association between the histopathologic measurement of tumor-visceral peritoneal distance and prognosis in T3 colon adenocarcinoma.
    3 days ago
    To investigate the relationship between microscopic tumor-visceral peritoneal distance (T-VPD) and histopathological markers of aggressiveness in pT3 colon adenocarcinoma and to assess its prognostic significance.

    A total of 329 resection specimens were retrospectively analyzed. T-VPD was defined as the shortest distance between the deepest invasive tumor front and the true serosal surface. Cut-off values of ≤0.01 cm, ≤0.05 cm, ≤0.1 cm, and ≤0.5 cm were evaluated. Associations with adverse histopathological features were examined using multivariable logistic regression. Overall survival (OS) and disease-free survival (DFS) were analyzed in 181 patients with available follow-up using Kaplan-Meier curves and Cox regression.

    T-VPD ≤0.5 cm was independently associated with lymphovascular invasion, whereas T-VPD ≤0.05 cm correlated with poor differentiation and tumor deposits. In OS analysis, advanced age, nodal metastasis, lymphovascular invasion, and perineural invasion were adverse prognostic factors, while a strong peritumoral lymphocytic response was protective. Tumor deposits predicted worse DFS, and peritumoral lymphocytic response remained protective. T-VPD was not an independent predictor of survival.

    T-VPD reflects aggressive tumor behavior but lacks independent prognostic value. Combined with established adverse features, it may provide additional information for risk stratification in pT3 colon cancer.
    Cancer
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  • Adjunctive role of p16/Ki-67 dual-stain cytology in colposcopy referral pathways for cervical precancer and persistent high-risk HPV infection.
    3 days ago
    This study aimed to evaluate the adjunctive triage performance of p16/Ki-67 dual staining (DS) cytology for cervical lesions in a colposcopy-referred cohort, to analyze its correlation with lesion severity, and to explore its predictive value for persistent high-risk human papillomavirus (HR-HPV) infection.

    A total of 109 patients undergoing colposcopic cervical biopsy (recruited via standard HPV+TCT referral criteria) were included. We evaluated the incremental diagnostic performance of adding p16/Ki-67 dual-stain (DS) triage to the standard HPV+TCT referral workflow for detection of CIN2+ and CIN3 +. Among 66 HR-HPV-positive patients with CIN1 or lower lesions, p16/Ki-67 DS cytology was performed, and the patients were followed up for 6 months to assess the predictive value for persistent infection.

    The positivity rate of p16/Ki-67 DS cytology gradually increased with the progression of cervical lesion severity (P<0.001). Further triage with p16/Ki-67 DS on the basis of combined HPV+TCT cervical cancer screening yielded sensitivity, specificity, accuracy and AUC of 77.8%, 88.6%, 84.4% and 0.822 ± 0.052 (95%CI: 0.721-0.923) for the diagnosis of CIN2+, and 93.3%, 81.3%, 81.7% and 0.823 ± 0.056 (95%CI: 0.713-0.933) for CIN3+, respectively. Among HR-HPV-positive CIN1/lower lesions, 87.1% of DS-positive patients had persistent infection compared to 62.9% of DS-negative patients (P = 0.025), with an odds ratio of 4.515 (P = 0.028).

    In this colposcopy-referred cohort defined by HPV and/or TCT-based referral criteria, p16/Ki-67 dual-stain (DS) cytology exhibited satisfactory adjunctive triage efficacy for identifying CIN2+ and CIN3+, and independently predicted persistent HR-HPV infection among patients with ≤CIN1 lesions. Notably, all analyses in this study are limited to diagnostic efficacy in this referral cohort; any potential clinical applications, including possible reductions in unnecessary procedures, remain exploratory hypotheses that require prospective clinical validation.
    Cancer
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  • Giant Hyalinizing Trabecular Tumor of the Thyroid: A Case Report and Literature Review.
    3 days ago
    Hyalinizing Trabecular Tumor (HTT) is an extremely rare thyroid neoplasm. Preoperative imaging diagnosis and Fine-Needle Aspiration Cytology (FNAC) are considerably challenging. We present a case of invasive HTT, describing its clinical course and imaging manifestations.

    A 49-year-old woman presented with a 12cm left thyroid mass that had been incidentally detected as a 9×8mm nodule ten years previously. Following asymptomatic gradual enlargement, she developed severe dyspnea in March 2024, prompting admission. Physical examination confirmed a large, firm left thyroid mass. Ultrasound (US) was limited by the lesion's size. Dual-Phase Contrast-Enhanced CT (DP-CECT) revealed a 12cm oval mass replacing the left lobe. US-FNAC yielded suspicious for malignancy (TBSRTC Category III). She underwent left thyroid lobectomy and isthmusectomy. Pathology and immunohistochemistry confirmed HTT with focal capsular invasion. The patient recovered uneventfully during follow-up.

    Elucidating the characteristic features of HTT will facilitate early diagnosis and clinical intervention, providing valuable insights for future clinical research.
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