Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Journals

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Article Types

Countries / Regions

remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline
remove_circle_outline

Search Results (282)

Search Parameters:
Keywords = rare pathology detection

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
5 pages, 1974 KB  
Interesting Images
Submucosal Gastric Mass Mimicking GIST: Final Diagnosis of Vanek’s Tumor
by Ljubica Lazic, Milica Mitrovic, Anja Zugic, Zeljko Grubac, Katarina M. Eric, Nenad Ivanovic, Aleksandra Djuric-Stefanovic, Ognjan Skrobic and Keramatollah Ebrahimi
Diagnostics 2026, 16(13), 2035; https://doi.org/10.3390/diagnostics16132035 - 29 Jun 2026
Viewed by 168
Abstract
Inflammatory fibroid polyp (IFP) or Vanek’s tumor is a rare benign submucosal lesion of the gastrointestinal tract that may radiologically mimic mesenchymal gastric tumors, particularly gastrointestinal stromal tumors. We present the case of a 65-year-old patient with a contrast-enhancing gastric submucosal mass detected [...] Read more.
Inflammatory fibroid polyp (IFP) or Vanek’s tumor is a rare benign submucosal lesion of the gastrointestinal tract that may radiologically mimic mesenchymal gastric tumors, particularly gastrointestinal stromal tumors. We present the case of a 65-year-old patient with a contrast-enhancing gastric submucosal mass detected on computed tomography, initially interpreted as a suspected mesenchymal neoplasm. CT imaging demonstrated a well-defined enhancing lesion arising from the gastric wall without evidence of metastatic disease. Surgical resection was performed because imaging findings were considered highly suggestive of GIST. Gross intraoperative appearance and pathological examination, however, established the final diagnosis of gastric inflammatory fibroid polyp (Vanek’s tumor). Histopathological analysis demonstrated characteristic spindle-cell proliferation with inflammatory eosinophil-rich infiltrates, while immunohistochemistry excluded GIST. This case highlights the diagnostic challenge in differentiating IFP from other gastric submucosal neoplasms based solely on imaging findings and emphasizes the importance of histopathological confirmation for definitive diagnosis. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
Show Figures

Figure 1

25 pages, 2418 KB  
Review
Wesselsbron Virus as a Surveillance-Sensitive One Health Pathogen: Evidence Strength, Diagnostic Under-Detection, and Integrated Risk Assessment
by Koycho Koev and Gabriela Goujgoulova
Microbiol. Res. 2026, 17(7), 119; https://doi.org/10.3390/microbiolres17070119 - 23 Jun 2026
Viewed by 208
Abstract
Wesselsbron disease remains an underrecognized mosquito-borne flaviviral disease despite long-standing evidence of ruminant reproductive loss, neonatal disease, hepatic pathology, zoonotic infection, and mosquito-associated circulation. This narrative review critically synthesizes verified evidence on Wesselsbron virus (WSLV) at the animal–human–vector–environment interface, with the specific aim [...] Read more.
Wesselsbron disease remains an underrecognized mosquito-borne flaviviral disease despite long-standing evidence of ruminant reproductive loss, neonatal disease, hepatic pathology, zoonotic infection, and mosquito-associated circulation. This narrative review critically synthesizes verified evidence on Wesselsbron virus (WSLV) at the animal–human–vector–environment interface, with the specific aim of clarifying why the virus should be considered a surveillance-sensitive One Health pathogen rather than a rare veterinary curiosity. The review integrates classical veterinary pathology, experimental infection studies, human case reports, serological and molecular evidence, mosquito surveillance, ecological suitability modelling, diagnostic-development studies, and recent evidence from molecular epidemiology, camel investigations, and digital histopathology. The review uses an evidence-weighted synthesis to distinguish experimentally and pathologically supported animal disease, confirmed but poorly quantified human infection, mosquito-associated detection, ecological suitability, diagnostic under-recognition, and unresolved reservoir or transmission questions before integrating these domains into a qualitative One Health risk-assessment framework. The evidence supports WSLV as a cause of ruminant abortion, neonatal disease, and hepatic lesions, confirms zoonotic potential, and indicates repeated detection in ecologically relevant mosquito and multi-host contexts. However, current data remain insufficient for robust estimates of animal burden, human incidence, reservoir competence, natural route frequency, or climate-driven expansion. WSLV should therefore be incorporated into targeted differential diagnosis, laboratory readiness, and One Health surveillance where ruminant abortion events, unexplained neonatal disease, compatible mosquito ecology, undiagnosed febrile illness, diagnostic ambiguity, or ecological suitability indicate plausible risk. Full article
(This article belongs to the Section Medical and Veterinary Microbiology)
Show Figures

Figure 1

14 pages, 3500 KB  
Article
Adenoid Cystic Carcinoma of the Breast: Clinical and Radiological Findings
by Jungmin Hwang, Boo-Kyung Han, Eun-Sook Ko, Ji Soo Choi, Jeongmin Lee, Haejung Kim, Myoung Kyoung Kim, Hyunwoo Lee and Eun Young Ko
Diagnostics 2026, 16(12), 1869; https://doi.org/10.3390/diagnostics16121869 - 16 Jun 2026
Viewed by 322
Abstract
Background/Objectives: Breast adenoid cystic carcinoma (ACC) is a rare tumor with limited data on imaging features and treatment response. This study investigated the clinical and radiological characteristics of ACC of the breast. Methods: Patients with ACC who underwent surgery at our [...] Read more.
Background/Objectives: Breast adenoid cystic carcinoma (ACC) is a rare tumor with limited data on imaging features and treatment response. This study investigated the clinical and radiological characteristics of ACC of the breast. Methods: Patients with ACC who underwent surgery at our institution between February 2010 and December 2023 were included. Clinical characteristics, biopsy and surgical pathology findings, and follow-up outcomes were reviewed. Preoperative mammography, ultrasound (US), and MRI findings were analyzed. Results: Twenty-eight women (mean age, 57 ± 8 years) were identified. Half presented with palpable masses, and the remainder were detected on screening. Percutaneous biopsy was performed in 27 patients, correctly diagnosing ACC in 18 (66.7%), whereas 9 (33.3%) were misdiagnosed as having invasive ductal carcinoma. The mean tumor size was 2.9 cm (range, 0.9–8 cm), with axillary metastasis in two women (7.1%). Most tumors were triple-negative (78.6%), while six showed low estrogen-receptor positivity (<10%). Ki-67 was <20% in 64.3%, with no high values (≥75%). Three patients received neoadjuvant chemotherapy, with two non-responders. No recurrences occurred during a median follow-up of 51 months. Imaging revealed masses on mammography (85.2%), US (92.9%), and MRI (92.3%), with calcifications in two cases. Most lesions were highly suspicious (BI-RADS 4C or 5) and showed increased vascularity in 92.3% on Doppler US. Conclusions: Breast ACC typically presents as a hypervascular, highly suspicious mass. Despite frequent triple-negative profiles, it shows low proliferation, poor response to chemotherapy, and favorable prognosis. Full article
(This article belongs to the Special Issue Recent Advances in Breast Cancer Imaging 2026)
Show Figures

Figure 1

24 pages, 4385 KB  
Article
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia
by Seval Kılıç, Kerem Esmen, Jean-Loup Méreaux, Ayşe Miray Oto, Tansu Bilge Kose, Melike Sever-Bahcekapili, Emine Eren-Koçak, Şeyda Demir, A. Semra Hız, Erum Afzal, Zahra Firoozfar, Gökhan Karakülah, H. Alper Bagriyanik, Léna Guillot-Noel, Giulia Coarelli, Henry Houlden, Stephanie Efthymiou, Alexandra Durr, Mehmet Öztürk and M. Kasim Diril
Genes 2026, 17(6), 660; https://doi.org/10.3390/genes17060660 - 5 Jun 2026
Viewed by 597
Abstract
Background/Objectives: Autophagy is a highly conserved eukaryotic cellular process whose dysfunction results in human pathologies including cancer and neurodegenerative disease. First identified in yeast, ATG genes are central players in autophagy. Mutations in core autophagy genes ATG5 and ATG7 have been previously reported [...] Read more.
Background/Objectives: Autophagy is a highly conserved eukaryotic cellular process whose dysfunction results in human pathologies including cancer and neurodegenerative disease. First identified in yeast, ATG genes are central players in autophagy. Mutations in core autophagy genes ATG5 and ATG7 have been previously reported to cause rare genetic disorders with autosomal recessive inheritance. Methods: Here we report, for the first time, variants in human ATG9B gene as causative factors for a rare neurodevelopmental disease with autosomal recessive inheritance. Three distinct mutations were detected in three independent families with consanguinity, five patients affected in total. Results: The first variant is an 11-nucleotide deletion resulting in a frameshift. A premature stop codon is added and the C-terminal cytosolic domain of ATG9B protein is truncated. The second one is a point mutation that changes a critical amino acid in the transmembrane domain. The third variant is a 2-nucleotide deletion causing a different truncation product. Patients presented with diverse neurodevelopmental anomalies including intellectual disability, behavioral abnormalities, congenital cerebellar ataxia, mild cerebellar atrophy, and microcephaly. Since human ATG9B is expressed specifically in the placenta, we hypothesized that the disease pathology originates during placental development. To characterize the effects of the first frameshift mutation and gain insight into the specific functions of ATG9B in a physiological setting, we used mammalian cells and a knock-in mouse model. Truncated ATG9B was not stable when expressed in cells. It was localized to perinuclear vesicles like the WT protein, but not to peripheral vesicles. Homozygous knock-in mice were viable, fertile, and displayed no gross phenotypical abnormalities. Histomorphometry analysis of the placenta layers did not reveal a significant difference between mutant and control embryos. The assessments of neurobehavioral tests were similar in wild-type and homozygous knock-in mice. However, knock-in mice had a reduced fear memory trend, which is an amygdala-involved response. Conclusions: In this study, we describe a new rare disease linked to ATG9, including cerebellar ataxia and atrophy, as described for ATG5 and ATG7. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
Show Figures

Figure 1

17 pages, 13454 KB  
Case Report
Transphyseal Proximal Humeral Aneurysmal Bone Cyst with Pathologic Fracture in a Child: A Case Report
by Taichun Li, Jingmiao Wang, Qin Zhang and Ziming Zhang
Diagnostics 2026, 16(11), 1657; https://doi.org/10.3390/diagnostics16111657 - 28 May 2026
Viewed by 295
Abstract
Background and Clinical Significance: Aneurysmal bone cyst (ABC) is a benign but locally aggressive osteolytic lesion that typically arises in the metaphysis of long bones in children and adolescents. Extension across an open proximal humeral physis into the epiphysis is uncommon and creates [...] Read more.
Background and Clinical Significance: Aneurysmal bone cyst (ABC) is a benign but locally aggressive osteolytic lesion that typically arises in the metaphysis of long bones in children and adolescents. Extension across an open proximal humeral physis into the epiphysis is uncommon and creates a diagnostic challenge because unicameral bone cyst and telangiectatic osteosarcoma may show overlapping radiological features. Case Presentation: A 12-year-old girl presented with pain and restricted motion of the left shoulder after a bicycle-related fall. Radiographs demonstrated a large expansile lytic lesion of the proximal humerus with cortical thinning and pathologic fracture. CT showed cortical ballooning, septation-like internal architecture, and extension across the open proximal humeral physis into the epiphysis. MRI demonstrated a multiloculated cystic lesion with thin internal septa and thin peripheral/septal enhancement, without nodular solid enhancement or a bulky extraosseous soft-tissue component. Curettage, bone cement filling, and elastic intramedullary nailing were performed. Histopathology, immunohistochemistry, and USP6 FISH analysis supported the final integrated diagnosis of ABC, although USP6 rearrangement was not detected. At 40 months, the patient was pain-free, had essentially normal shoulder motion, had returned to normal school and daily activities, and required no further surgery; radiographs showed stable remodeling without aggressive re-expansion. Conclusions: A focused literature review supports that frank transphyseal ABC is rare, particularly in the proximal humerus. The diagnostic contribution of this case lies in the integration of radiography, CT, MRI, histopathology, ancillary testing, and long-term clinical and radiographic follow-up. In a skeletally immature patient with a proximal humeral cystic lesion, transphyseal extension should prompt careful multimodality assessment. Imaging can substantially narrow the differential diagnosis, but integrated radiologic–pathologic confirmation remains essential when malignant mimics are possible. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
Show Figures

Figure 1

15 pages, 6302 KB  
Case Report
When Lymph Nodes Don’t Lie: Report of Three Unusual Presentations of Thoracic Tumors
by Stefano Lucà, Francesco Barbato, Amedeo Di Maio, Liliana Montella, Stefano Farese, Gaetano Di Guida, Beatrice Leonardi, Rosa Giannatiempo, Rosario Salvi, Marco Montella, Carminia Maria Della Corte, Morena Fasano, Michele Orditura, Alfonso Fiorelli, Floriana Morgillo and Renato Franco
Diagnostics 2026, 16(11), 1618; https://doi.org/10.3390/diagnostics16111618 - 25 May 2026
Viewed by 267
Abstract
Background and Clinical Significance: Lymph node metastases from carcinoma of unknown primary origin (CUP) are a rare and diagnostically challenging entity, particularly when arising from thoracic malignancies with atypical clinical presentations. This study aims to illustrate the essential nature of multidisciplinary integration, with [...] Read more.
Background and Clinical Significance: Lymph node metastases from carcinoma of unknown primary origin (CUP) are a rare and diagnostically challenging entity, particularly when arising from thoracic malignancies with atypical clinical presentations. This study aims to illustrate the essential nature of multidisciplinary integration, with a particular emphasis on the role of the pathologist in identifying occult thoracic tumors. Case Presentation: We report three cases of patients presenting with cervical or systemic lymphadenopathy as the initial clinical manifestation. Comprehensive diagnostic workups included advanced imaging (CT, MRI, and PET), comprehensive histopathological analysis, and next-generation sequencing of circulating tumor DNA. Case one and case two were diagnosed as occult primary non-mucinous lung adenocarcinomas, based on the integration of morphological features and immunohistochemical co-expression of TTF-1 and Napsin A, despite the absence of identifiable lung lesions. One case harbored an ALK rearrangement, guiding effective targeted therapy with alectinib. Case three involved metastatic pleural epithelioid mesothelioma, which presented with systemic lymphadenopathy and was initially misclassified as metastatic adenocarcinoma. Diagnosis was confirmed by the loss of BAP1 expression by immunohistochemistry and the detection of a BAP1 S160fs*1 mutation, emphasizing the role of molecular pathology. Conclusions: Lymphadenopathy as the first manifestation of thoracic malignancy is a rare but clinically significant occurrence. In such atypical presentations, pathologists play a pivotal role in diagnosis, often leading the process when clinical or radiological clues are minimal or absent. Accurate histopathological assessment is essential to establish a correct diagnosis and guide appropriate therapy. A multidisciplinary approach remains the cornerstone of diagnostic precision in CUP cases. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
Show Figures

Figure 1

10 pages, 1016 KB  
Case Report
Segmental Arterial Mediolysis Associated with Renal Allograft Artery Dissection and Thrombosis During Kidney Transplantation
by Matteo Zanchetta, Natale Calomino, Giuseppe Ietto, Vanessa Borgogni, Giorgio Micheletti, Sergio Antonio Tripodi, Daniele Marrelli, Franco Roviello and Gian Luigi Adani
Clin. Pract. 2026, 16(6), 99; https://doi.org/10.3390/clinpract16060099 - 24 May 2026
Viewed by 712
Abstract
Background: Segmental arterial mediolysis (SAM) is a rare, non-inflammatory, non-atherosclerotic, non-hereditary arteriopathy of unknown etiology that typically affects medium-sized visceral arteries. The absence of reliable diagnostic criteria poses a significant challenge. Consequently, the diagnosis of SAM should be considered in the setting [...] Read more.
Background: Segmental arterial mediolysis (SAM) is a rare, non-inflammatory, non-atherosclerotic, non-hereditary arteriopathy of unknown etiology that typically affects medium-sized visceral arteries. The absence of reliable diagnostic criteria poses a significant challenge. Consequently, the diagnosis of SAM should be considered in the setting of a distinctive combination of clinical features, angiographic findings, and histopathology. Renal artery involvement is uncommon, and its occurrence in the donor graft during kidney transplantation (KT) has not previously been reported. Case presentation: We report the case of a kidney graft from a deceased donor in her seventh decade of life, transplanted into a recipient in her seventh decade of life. Donor–recipient ABO compatibility was confirmed, and both complement-dependent cytotoxicity crossmatch and flow cytometry crossmatch were negative. Cold ischemia time was 14 h, and warm ischemia time was 20 min. Immediately after declamping, massive thrombosis of the graft renal artery was observed and confirmed using an intraoperative flowmeter. The arterial anastomosis was taken down, the thrombus was removed, the artery was flushed with heparin, and the anastomosis was reconstructed using interrupted sutures. Despite revision, no arterial flow was detected, and the graft was deemed unsalvageable and explanted. Histopathological examination showed thinning of the tunica media, reduced smooth muscle cells on desmin staining, medial-adventitial dissection, and occlusive thrombosis, findings considered likely attributable to SAM. Conclusions: This case suggests that occult donor arterial wall disease compatible with SAM may present catastrophically during KT and may lead to immediate graft loss despite standard surgical salvage attempts. Although no validated strategy currently exists to screen for or prevent occult SAM in asymptomatic donors, awareness of this entity may assist transplant surgeons and pathologists in the evaluation of unexplained early graft arterial thrombosis, donor-graft vascular pathology, and communication with centres receiving paired organs from the same donor. Full article
Show Figures

Figure 1

32 pages, 3142 KB  
Article
Long-Term Risk of Residual or Recurrent CIN 2–3 After LLETZ in Immunosuppressed vs. Immunocompetent Women: A 20-Year Cohort Study
by Christian Leonardo Molina-Hinojosa, Ramón Carreras-Collado, María Saumoy-Linares, Judith Peñafiel, Fatima Heydari, Joan Climent Martí and María Eulalia Fernández-Montolí
Cancers 2026, 18(11), 1695; https://doi.org/10.3390/cancers18111695 - 22 May 2026
Viewed by 583
Abstract
Background: Immunosuppressed women are at increased risk of residual or recurrent high-grade cervical intraepithelial neoplasia (CIN 2–3) after excisional treatment, yet long-term comparative data remain limited. Previous studies are often small and heterogeneous, and they rarely compare outcomes directly with immunocompetent populations. [...] Read more.
Background: Immunosuppressed women are at increased risk of residual or recurrent high-grade cervical intraepithelial neoplasia (CIN 2–3) after excisional treatment, yet long-term comparative data remain limited. Previous studies are often small and heterogeneous, and they rarely compare outcomes directly with immunocompetent populations. This study evaluated the long-term incidence, timing and associated factors of CIN 2–3 recurrence after large loop excision of the transformation zone (LLETZ), stratified by immune status. Methods: We conducted a retrospective cohort study including 283 women treated with LLETZ for CIN 2–3 between 1996 and 2016 at Bellvitge University Hospital in Barcelona, Spain. Of these, 41 were immunosuppressed and 242 immunocompetent. Clinical, histopathological, virological, and immunological variables were extracted from hospital and pathology registries. Kaplan–Meier estimates and Cox proportional hazards models adjusted for immunosuppression status were used to evaluate time-to-recurrence and factors associated with recurrence. Results: At 36 months post-treatment, the probability of residual/recurrent CIN 2–3 was 44% in immunosuppressed women versus 5% in immunocompetent women (HR = 10.42, 95% CI 4.70–23.08, p < 0.001). Recurrence appeared earlier in immunosuppressed women (median 7 vs. 13 months). Persistent high-risk HPV infection at first follow-up (HR = 23.6, 95% CI 5.44–102, p < 0.001) and positive surgical margins (HR = 3.88, 95% CI 1.45–10.3, p = 0.007) were among the factors most strongly associated with recurrence, and advanced immunodeficiency (CD4+ < 200 cells/mm3 or detectable HIV viral load) was associated with earlier recurrences, though this association was not maintained after accounting for immunosuppression status in Cox models. Conclusions: Immunosuppressed women are at significantly higher and earlier risk of residual/recurrent CIN 2–3 after LLETZ. These findings support a risk-adapted, multidisciplinary follow-up integrating gynecologic, infectious disease, and immunologic care. Tailored surveillance and perioperative HPV vaccination may enhance secondary prevention in this high-risk population. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Gynecological Cancers)
Show Figures

Figure 1

17 pages, 589 KB  
Article
Interdisciplinary Study of the Clinical Phenotype of Patients with Fibrodysplasia Ossificans Progressiva (FOP) in Dental Practice: A Cross-Sectional Clinical–Statistical Analysis
by Svetlana Danshina, Andrey Sevbitov, Aglaya Kazumova, Vitaly Borisov, Anton Timoshin, Maria Kuznetsova and Alexey Dorofeev
J. Clin. Med. 2026, 15(10), 3951; https://doi.org/10.3390/jcm15103951 - 20 May 2026
Viewed by 330
Abstract
Background/Objectives: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder causing progressive heterotopic ossification. The dental phenotype has never been systematically characterised. We quantified dental pathologies and oral health-related quality of life across three age groups of genetically confirmed FOP patients and [...] Read more.
Background/Objectives: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder causing progressive heterotopic ossification. The dental phenotype has never been systematically characterised. We quantified dental pathologies and oral health-related quality of life across three age groups of genetically confirmed FOP patients and compared them with 156 matched healthy controls (2022–2025). Methods: A total of 52 FOP patients (Group I: 1–5 y, n = 14; Group II: 6–17 y, n = 21; Group III: 18–35 y, n = 17) underwent standardised dental examination (Decayed, Missing, and Filled Teeth index (DMFT), Oral Hygiene Index Simplified (OHI-S), Angle classification, temporomandibular joint (TMJ) assessment), computed tomography (CT) densitometry, sialometry, salivary crystal analysis, and Oral Health Impact Profile-14 (OHIP-14). Statistical analysis used Kruskal–Wallis, Mann–Whitney U, Benjamini–Hochberg false discovery rate (FDR) correction, and effect sizes. Results: Caries (DMFT ≥ 4) was highly prevalent across all FOP groups (82–86%) and significantly higher than in controls (84.6% vs. 38.5%, p < 0.001). Chronic stomatitis showed large age-group differences: 7.1% in Group I vs. 100% in Group III (p < 0.001); it was universal in FOP adults vs. 6.4% in controls. Enamel hypoplasia (21.4% → 58.8%) and Angle class II malocclusion (0% → 47.1%) also showed large age-group differences. Total TMJ disorders were observed in 7.1% of Group I and 100% of Group III (p < 0.001); maximal mouth opening was lower by 17.4 mm in Group III (Cohen’s d = 2.1). Salivary flow rate was 20% lower in adults (0.35 → 0.28 mL/min, p = 0.01). Calcium phosphate crystals were detected in 3/17 adults (17.6%) and showed a preliminary correlation with CT calcification grade (ρ = 0.67, p = 0.003); given the small number of crystal-positive patients, this finding should be considered hypothesis-generating. OHIP-14 total score was higher (worse) in Group III (48.9 vs. 12.4 in Group I, Cohen’s d = 1.95). Conclusions: This cross-sectional study provides a systematic characterisation of the dental phenotype in FOP across three age groups. It shows that chronic stomatitis and TMJ dysfunction become nearly universal by early adulthood, severely impairing quality of life. The correlation between salivary calcium phosphate crystals and CT calcification generates the hypothesis of a non-invasive biomarker, requiring prospective validation. The proposed clinical phenotype and minimally invasive recommendations provide a framework for safer dental management of FOP patients. Full article
(This article belongs to the Special Issue Interaction Between Systemic Diseases and Oral Diseases: 2nd Edition)
Show Figures

Figure 1

15 pages, 1225 KB  
Article
An Ex Vivo Model of Post Infectious Bronchiolitis Obliterans in Children Using Reconstituted Human Bronchial Epithelium
by Julie Mazenq, Léa Moreno, Jean-Christophe Dubus, Fabien Chuette, Louisa Goumidi, Nicoleta Panait, Pascal Chanez and Delphine Gras
Biomolecules 2026, 16(5), 736; https://doi.org/10.3390/biom16050736 - 18 May 2026
Viewed by 488
Abstract
Introduction: Post-infectious bronchiolitis obliterans (PIBO) is a rare and severe chronic lung disease. Our goal was to characterize respiratory epithelium in children with PIBO, which remains unexplored, using an ex vivo model culture. Methods: Proximal bronchial biopsies from children with PIBO and reconstituted [...] Read more.
Introduction: Post-infectious bronchiolitis obliterans (PIBO) is a rare and severe chronic lung disease. Our goal was to characterize respiratory epithelium in children with PIBO, which remains unexplored, using an ex vivo model culture. Methods: Proximal bronchial biopsies from children with PIBO and reconstituted bronchial epithelium from PIBO patients (n = 3) and controls (n = 17) were analyzed using an air–liquid interface culture model. Epithelial cell composition, barrier integrity, and mediator production, including mucins, inflammatory and antiviral responses, were assessed in this pathological and functional approach. Results: Epithelial thickness was assessed in PIBO biopsies. Ex vivo reconstituted PIBO epithelia appeared to exhibit comparable cohesion and cell composition to controls. Mucin expression and secretion were likewise similar between groups. PIBO epithelial might have displayed reduced IL-33 transcript levels and decreased TSLP secretion, whereas IFN-λ1, IFN-λ2-3 and IFN-β secretion could have been elevated. No differences were detected in remodeling markers (MMP-9 and YKL-40). Conclusions: In summary, ex vivo model of PIBO epithelia suggested that the epithelium may preserve structural characteristics and mucin production, without evidence of remodeling. However, PIBO epithelial cells may have a distinct immune profile, with lower alarmin expression and higher interferon secretion. This could indicate a tendency toward enhanced antiviral response rather than structural changes. These preliminary results need to be confirmed in larger cohorts. Full article
(This article belongs to the Special Issue Molecular Insights into Bronchiolitis Obliterans)
Show Figures

Figure 1

23 pages, 6643 KB  
Review
Acquired Angioedema—A Challenge in Medical Practice: A Narrative Review
by Katarzyna Poznańska-Kurowska, Małgorzata Skibińska, Dorota Lorenz, Waleed Aman Ur Rahman and Marcin Kurowski
J. Clin. Med. 2026, 15(10), 3800; https://doi.org/10.3390/jcm15103800 - 14 May 2026
Viewed by 528
Abstract
Angioedema (AE) is a frequent symptom reported by dermatologists and allergists, as well as by general practitioners and physicians in other specialties. Hereditary angioedema (HAE) is an ultra-rare condition, whereas the majority of AE episodes in daily medical practice are secondary to an [...] Read more.
Angioedema (AE) is a frequent symptom reported by dermatologists and allergists, as well as by general practitioners and physicians in other specialties. Hereditary angioedema (HAE) is an ultra-rare condition, whereas the majority of AE episodes in daily medical practice are secondary to an underlying condition or drug intake. This review discusses the most common causes of acquired angioedema, presents selected aspects of its pathogenesis in the context of available diagnostic tests, and provides an account of reports on possible management options. Acquired angioedema (AAE) poses an actual challenge both in terms of its diagnosis and management. Its variable etiology warrants a diagnostic approach aimed at the exclusion of underlying cancers, lympho- and myeloproliferative diseases, monoclonal gammopathies, as well as autoimmune and infectious conditions. Apart from its variable etiology, the management of AAE is further complicated by the lack of approved and standardized prophylaxis and treatment schemes. Therefore, an appropriate diagnostic approach is required for the efficient prevention of AAE symptoms and the detection of possible underlying pathologies. Full article
(This article belongs to the Special Issue Clinics and Management of Allergic and Inflammatory Skin Disorders)
Show Figures

Figure 1

12 pages, 4437 KB  
Article
Differential Expression of Apoptosis-Stimulating Proteins of p53 (ASPPs) Between Langerhans Cell Histiocytosis and Langerhans Cell Sarcoma
by Changsong Wang, Naijun Fan, Tian Yun, Fulin Li, Nianlong Meng, Yaxi Wang, Junling An and Xuexia Lyu
Diagnostics 2026, 16(10), 1418; https://doi.org/10.3390/diagnostics16101418 - 7 May 2026
Viewed by 407
Abstract
Objectives: Langerhans cell sarcoma (LCS) is a very rare, highly malignant tumor that originates from Langerhans cells. The differential diagnosis of LCS and Langerhans cell histiocytosis (LCH) still faces limitations, and the molecular changes involved in LCS are unclear. Molecular biomarkers and [...] Read more.
Objectives: Langerhans cell sarcoma (LCS) is a very rare, highly malignant tumor that originates from Langerhans cells. The differential diagnosis of LCS and Langerhans cell histiocytosis (LCH) still faces limitations, and the molecular changes involved in LCS are unclear. Molecular biomarkers and immunophenotypes may help distinguish between LCS and LCH. In this manuscript, the pathological and molecular markers in LCS are explored. Methods: The expression patterns of ASPP1, ASPP2, and inhibitor of apoptosis-stimulating p53 protein (iASPP) were examined using the immunohistochemical method and immunofluorescence staining. Then, genetic features, such as B-Raf proto-oncogene, serine/threonine kinase (BRAF) V600E, K-ras, and ROS proto-oncogene 1, receptor tyrosine kinase (ROS1), were assayed using the amplification refractory mutation system (ARMS) method. Finally, whole-exon sequencing of LCS was performed. Results: Immunohistochemically, in all samples of LCS, ASPP2 was detected in ovoid and elliptic tumor cells. In the case of LCH, ASPP2 was expressed not only in ovoid and elliptic cells but also in histiocytic cells. The expression of iASPP was observed in five cases LCS (5/6), and no positive reaction was observed in the case of LCH. No ASPP1 expression was observed in LCH and LCS. During triple-color immunofluorescence analysis, ASPP2 and iASPP were co-expressed on Langerin+ LCS tumor cells. No mutations of BRAF V600E, K-ras, or ROS1 were detected in LCH and LCS. No gene mutation or rearrangement was detected in LCS except for the MAP2K1 gene. The mutation site was nonsynonymous in 607 bp of MAP2K1, resulting in a change from base G to A; thus, the amino acid E changed to K at the 203 site (4/6, 66.67%). Conclusions: Combined detection of ASPP2 and iASPP in tissue samples may provide valuable markers to differentiate between LCH and LCS. The MAP2K1 variants c.607G > A is the first potential marker to be reported in LCS. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
Show Figures

Figure 1

38 pages, 7326 KB  
Review
Spectrum of Biliary and Nonbiliary Neoplasms Growing and Spreading Within the Lumen of the Bile Ducts
by Yasuni Nakanuma, Yasunori Sato, Yuko Kakuda and Takuma Oishi
Cancers 2026, 18(9), 1356; https://doi.org/10.3390/cancers18091356 - 24 Apr 2026
Viewed by 631
Abstract
In the hepatobiliary system, the majority of neoplasms grow within the hepatic parenchyma; however, some arise, grow, and/or spread within the lumen of the intrahepatic large bile ducts and the perihilar/distal bile ducts (collectively referred to as large bile ducts), representing specialized ductal [...] Read more.
In the hepatobiliary system, the majority of neoplasms grow within the hepatic parenchyma; however, some arise, grow, and/or spread within the lumen of the intrahepatic large bile ducts and the perihilar/distal bile ducts (collectively referred to as large bile ducts), representing specialized ductal organs associated with unique peribiliary glands and being distinct from the intrahepatic small bile ducts and bile ductules embedded within the hepatic parenchyma. Precursors of cholangiocarcinoma (CCA) arising within the lumen of large bile ducts have recently been proposed. Neoplasms growing and spreading within the lumen of large bile ducts have been categorized into four groups and are discussed here in light of updated pathological findings. (i) Precursor(s) of CCA arising in the large bile ducts (large-duct-type intrahepatic CCA and perihilar/distal CCA): These precursors include high-grade biliary intraepithelial neoplasia (BilIN), intraductal papillary neoplasm of the bile duct (IPNB), and intraductal oncocytic papillary neoplasm (IOPN). High-grade BilIN presents as a flat, microscopic lesion with dysplastic cytoarchitectural alterations and grows along the luminal surface of large bile ducts, whereas the latter two present as grossly visible polypoid or tumorous lesions composed of papillary, villous, or tubular proliferation of neoplastic epithelium with delicate fibrovascular cores. These lesions may eventually progress to invasive CCA. Intraductal tubulopapillary neoplasm of the bile duct (ITPN), previously categorized as another precursor of CCA arising in large bile ducts, appears to represent a heterogeneous group of neoplasms with respect to progression and presumed cell of origin. Some ITPNs are frequently associated with nodular invasive carcinoma resembling small-duct-type intrahepatic CCA (SD-iCCA) and share genetic alterations with SD-iCCA; such cases may arise in association with small bile ducts or bile ductules. In contrast, other ITPNs exhibit cystic changes with tubulopapillary features and may arise in association with peribiliary glands or cysts. (ii) Secondary growth and spread of biliary neoplasms: This category comprises several patterns. First, intraepithelial neoplastic spread directly and continuously from the primary neoplastic lesion is observed in almost all cases of high-grade BilIN, IPNB, and IOPN; it spreads laterally along the luminal surface of the proximal and distal bile ducts and extends vertically into the adjacent peribiliary glands. Intraluminal cast-like spread in the bile ducts adjacent to the primary neoplastic lesion also occurs in some precursor lesions, particularly in ITPN. Implantation of a biliary neoplasm from one part of the biliary tract to another results in discontinuous, multifocal biliary neoplasms, particularly in IPNB, and occurs mainly in the distal bile ducts relative to the main tumor. Multicentric tumorigenesis may contribute to the multifocal development of precursors and CCA in the bile ducts. The accumulation of additional genetic alterations, beyond the common mutations detected in primary tumors, may contribute to metachronous recurrence of CCA after curative resection of the primary biliary tumor. Cancerization of the duct (COD) by CCA may also contribute to secondary growth and spread within the bile duct lumen. Specifically, flat-type cancerization of pre-existing non-neoplastic bile ducts, resembling high-grade BilIN, occurs in approximately one-third of hilar CCA cases. Intraductal polypoid, cast-like cancerization within the lumen of adjacent bile ducts, resembling polypoid precursors of CCA, can also occur in approximately one-tenth of SD-iCCA. (iii) Prominent intraductal polypoid growth of invasive CCA: Invasive CCA rarely presents with predominant intraductal polypoid carcinoma that is continuous with periductal infiltrating CCA; this pattern can be referred to as polypoid invasive CCA. (iv) Nonbiliary neoplasms presenting bile duct tumor thrombus (BDTT): BDTT associated with hepatocellular carcinoma and with extrahepatic malignancies extending into the bile duct lumen can mimic the intraluminal growth and spread patterns of the above-mentioned biliary neoplasms. In conclusion, intraluminally growing biliary neoplasms in the large bile ducts comprise a heterogeneous group that can be reasonably classified into four categories. This categorization may facilitate understanding of these intrabiliary growing neoplasms. Full article
(This article belongs to the Special Issue The Molecular Biology of Cholangiocarcinoma)
Show Figures

Figure 1

10 pages, 2239 KB  
Article
Pathological, Immunohistochemical, and Bacteriological Characterization of Salmonellosis in Bearded Dragons (Pogona vitticeps)
by Matías A. Dorsch, Nicholas Crossland, Fabio Del Piero, Javier G. Nevarez, Thomas N. Tully, Maria S. Mitchell and Mariano Carossino
Pathogens 2026, 15(5), 457; https://doi.org/10.3390/pathogens15050457 - 22 Apr 2026
Viewed by 496
Abstract
Salmonella spp. is a major zoonotic pathogen. Although reptiles are mostly considered subclinical carriers, clinical disease may develop following immunosuppression. Clinical salmonellosis in reptiles has been extensively reported; however, the condition has been rarely described in bearded dragons (Pogona vitticeps). We [...] Read more.
Salmonella spp. is a major zoonotic pathogen. Although reptiles are mostly considered subclinical carriers, clinical disease may develop following immunosuppression. Clinical salmonellosis in reptiles has been extensively reported; however, the condition has been rarely described in bearded dragons (Pogona vitticeps). We retrospectively analyzed six cases of salmonellosis in bearded dragons and characterized the pathological, immunohistochemical, and bacteriological findings. Clinical signs and gross findings were mostly non-specific. Histological findings mainly consisted of fibrinonecrotizing enterocolitis (83.3%); necrotizing or granulomatous hepatitis (66.7%); pneumonia including bronchopneumonia or interstitial pneumonia in one case each (33.3%); tubulointerstitial nephritis with tubular necrosis (16.7%); and coelomitis (16.7%). Salmonella enterica subsp. houtenae was cultured in three cases (33.3%), whereas S. enterica subsp. enterica serovar Rissen, S. enterica subsp. enterica serovar Cotham, and S. enterica subsp. diarizonae were cultured in one case each. Intralesional bacteria were detected via immunohistochemistry in kidneys and colon in two cases (33.3%). The predominance of lesions in the intestines and liver likely reflects initial intestinal colonization followed by hematogenous dissemination to the liver. Hepatic lesions are thought to represent different stages along a continuum, progressing from acute necrosis to discrete granuloma formation. Renal and respiratory involvement was infrequent, as reported in other reptile species. Some of the isolated Salmonella subspecies (S. diarizonae and S. houtenae) are well-recognized causes of clinical disease in other reptile species but not previously identified in bearded dragons. This study provides a comprehensive pathological, immunohistochemical, and bacteriological characterization of salmonellosis in bearded dragons, thus raising awareness and assisting in the identification of this condition. Full article
(This article belongs to the Special Issue Advances in Salmonella Epidemiology and Pathogenesis)
Show Figures

Figure 1

9 pages, 3559 KB  
Case Report
A Case of Delayed Cholecystitis Caused by Blunt Traumatic Gallbladder Hemorrhage
by Chihiro Mori, Atsuo Maeda, Yasuo Ueda, Hiromi Takayasu, Yasuhiro Nakajima, Jun Sasaki, Munetaka Hayashi and Kenji Dohi
Emerg. Care Med. 2026, 3(2), 15; https://doi.org/10.3390/ecm3020015 - 15 Apr 2026
Viewed by 565
Abstract
Background: Isolated gallbladder injuries are rare, especially when initial imaging is normal. Advanced imaging is required to detect delayed complications. Moreover, it is necessary to make an appropriate diagnosis while selecting the most suitable treatment option. Case Presentation: A 49-year-old man fell while [...] Read more.
Background: Isolated gallbladder injuries are rare, especially when initial imaging is normal. Advanced imaging is required to detect delayed complications. Moreover, it is necessary to make an appropriate diagnosis while selecting the most suitable treatment option. Case Presentation: A 49-year-old man fell while cycling and developed worsening abdominal pain. Initial contrast-enhanced computed tomography (CT) scans showed no abnormalities. However, the patient later developed cholangitis and cholecystitis caused by biliary obstruction from a delayed gallbladder hematoma. Magnetic resonance imaging (MRI) and magnetic resonance cholangiopancreatography (MRCP) were used to diagnose this condition. The patient was initially managed conservatively with antibiotics, which led to temporary symptomatic improvement. Notably, the patient developed a delayed recurrence of suspected acute cholangitis (Grade I) on Day 12 due to hematoma migration. After recurrence, endoscopic nasobiliary drainage was performed as a step-up approach, in accordance with the Tokyo Guidelines 2018 management bundle, to achieve biliary decompression, followed by elective laparoscopic cholecystectomy. Pathological examination revealed chronic cholecystitis with hematoma. Conclusions: Isolated gallbladder injuries should be considered in patients with blunt abdominal trauma. Delayed hematoma formation can lead to biliary obstruction, even without initial CT findings. In such cases, early implementation of MRI and MRCP, along with close clinical monitoring for delayed recurrence, is essential. A strategic “step-up approach” incorporating endoscopic drainage is a safe and effective management option prior to definitive surgery. Full article
Show Figures

Figure 1

Back to TopTop