Marfan syndrome (MFS, OMIM #154700) is an autosomal dominant disorder that presents a challenging diagnosis due to its wide clinical variability. The prenatal diagnosis of the syndrome is rare and often associated with unfavourable prognoses, such as early mortality. This case report, written by scientist parents, aims to document the clinical journey, management, and development of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of gestation. In the immediate postpartum period, the patient did not show any severe warning signs, such as tachypnoea or prostration. The initial findings included mild dilation of the aortic and pulmonary roots, funnel chest, downward-slanting palpebral fissures, and elongated fingers. Subsequent multidisciplinary follow-up revealed motor delays, hypotonia, and orofacial alterations. Despite the repercussions of Marfan syndrome, the patient's overall health is positive, and their development is consistent with what is expected for childhood. This case report offers a humanised and multidisciplinary perspective on the patient's journey, highlighting the importance of early diagnosis, access to healthcare services, and information to redefine the course of clinical histories, offering hope to other families.

Endometrioid carcinoma is a common malignant epithelial tumor of the uterus and ovary, exhibiting variable histomorphology and immunophenotype. Sex cord-like endometrioid carcinoma (SCLEC) is a rare histologic subtype with significant morphologic and immunohistochemical variability. Extra-ovarian, extra-uterine SCLEC arising from the broad ligament has been rarely reported. We report 2 cases of SCLEC arising from the broad ligament. The first patient, a 62-yr-old woman, presented with vague abdominal pain, and diagnostic imaging suggested a broad ligament fibroid. The second patient, a 47-yr-old woman, presented with a clinical history of abdominal pain and abnormal uterine bleeding. Diagnostic imaging suggested a subserosal fibroid. Histologic evaluation revealed a sex cord-like pattern with only rare foci of conventional endometrioid carcinoma. Immunohistochemical evaluation of both cases showed positivity for CK-7, EMA, ER, PR, CDX-2, CD-10, and nuclear β-catenin, while CK-20, PAX-8, GATA3, TTF-1, WT-1, napsin-A, p16, p53, inhibin, calretinin, chromogranin, and CEA were negative. The diagnosis of primary broad ligament SCLEC is extremely challenging. A thorough histologic and immunohistochemical evaluation is essential before excluding differential diagnoses.

Endobronchial lesions in children are uncommon and have various causes and symptoms can be vague and nonspecific, thus making early and accurate diagnosis challenging. Infants may only present with segmental hyperinflation, persistent lobar consolidation, or respiratory distress. Children with endobronchial obstruction usually present with wheezing, persistent cough, recurrent fever, and hemoptysis. Obstructive symptoms are seen when the mass occludes more than one-half of the endobronchial lumen. Unilateral lobar consolidation on chest radiographs is frequently diagnosed as pneumonia, although it could be secondary to a clinically occult endobronchial lesion. Foreign body aspiration may occur at any age but should be excluded if a child younger than 4 years presents with choking, a cough, or dyspnea. The radiolucent nature of many foreign bodies, including organic material and plastics, increases the complexity of diagnosis. Endobronchial tumors become more common in older children but are most often benign. Although they are less common than they are in adults, primary malignant salivary gland tumors and carcinoid tumors do occur in children, although most are benign or low grade with a good prognosis. Endobronchial abnormalities should be considered in the differential diagnosis in children with respiratory symptoms refractory to standard medical treatment. Bronchoscopy plays a vital role in assessing endobronchial lesions with direct visualization and biopsy. Tissue diagnosis assists in determining the optimal treatment plan. Benign and malignant endobronchial pathologic processes in children are reviewed and the multidisciplinary approach to these often challenging diagnoses is discussed. ©RSNA, 2026 Supplemental material is available for this article.

A quantitative, broad-panel LC-MS/MS method for the analysis of intact steroid conjugates: A novel approach to steroid profiling for biomarker research in corticoid-dependent diseases.

Abstract Heparin-induced thrombocytopenia (HIT) is a life-threatening disorder caused by the exposure to heparin and characterized by high morbidity and mortality. It is largely underestimated because of its heterogeneous presentation ranging from a fall in platelet count antibodies positivity to serious thrombotic complications. Haemodialysis (HD) patients represent a high-risk population due to the anticoagulation use during extracorporeal treatments. It usually occurs in the first weeks from the start of HD, although it was reported in chronic HD patients after surgery procedures. When the diagnosis of HIT is formulated, heparin must be promptly stopped and an alternative anticoagulant has to be started. The aim of this review is to provide a comprehensive overview on the pathogenesis, diagnosis, and treatment of the HIT in HD in order to increase the awareness of physicians on this important clinical syndrome to promptly start the specific treatment.

Craniosynostosis (CS) is the second most common craniofacial birth defect after orofacial clefts. Genetic counseling is essential for reproductive planning in affected families. Nine fetal CS cases-six Apert syndrome (AS) and three Pfeiffer syndrome (PS)-with established genetic causes were retrospectively analyzed for clinical, radiological, and molecular features. Mean gestational age at first examination was 26.2weeks. Four AS and two PS cases were diagnosed during the prenatal stage by ultrasonography (USG), whereas two AS and one PS cases were identified during postmortem. Common prenatal findings included polyhydramnios, high flat forehead, and syndactyly. Two of the three cases diagnosed at the postmortem stage had multiple congenital anomalies (MCA), while in the third, CS was suspected due to frontal bossing and proptosis despite the absence of classic signs. All cases carried pathogenic FGFR2 variants. Proptosis, frontal bossing, and trigonocephaly are key prenatal indicators of CS, but their absence-especially with systemic anomalies-can challenge diagnosis. In cases with MCA, CS should be suspected even if classic signs are absent, particularly when syndactyly accompanies other complex abnormalities. Postmortem evaluation and molecular genetic testing are essential for definitive diagnosis, especially when clinical features are ambiguous.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe hyperinflammatory syndrome caused by uncontrolled activation of macrophages and cytotoxic T cells. It is frequently underdiagnosed, leading to significant morbidity and mortality in pediatric populations. Early identification and treatment are critical to improving prognosis. Materials and Methods: This retrospective study analyzed demographic, clinical, and laboratory data of pediatric patients aged 0 to 18 years diagnosed with HLH according to the HLH-2004 criteria. Patients admitted to our center between February 2021 and February 2023 were included. We aimed to describe common presenting symptoms, laboratory abnormalities , treatment modalities, and patient outcomes. Results: A total of 35 children diagnosed with HLH were included; 51% were female. The mean age was 6.1 years, with an age range from birth to 18 years. Fever was the most frequent presenting symptom, reported in 85% of cases. Hemophagocytosis in bone marrow aspirates was detected in 41% of patients. The overall mortality rate was 11%. Notably, 20% of patients tested positive for anti-COVID-19 IgG antibodies, suggesting a possible temporal association with the development of HLH, Comparative analysis indicated that deceased patients had significantly lower fibrinogen levels (p = 0.04) and higher triglyceride levels (p = 0.03). Treatment regimens varied according to clinical presentation and severity. Conclusion: HLH remains a challenging diagnosis due to its variable presentation and potential to rapidly progress to life-threatening immune activation. Prompt recognition and timely initiation of appropriate therapy are vital for improving outcomes in affected children. Increased awareness among clinicians and early intervention can reduce morbidity and mortality associated with this condition.

Adult-Onset Nesidioblastosis: A Challenging Diagnosis Revealed by Endoscopic Ultrasonography

A 73-year-old man developed subacute cognitive impairment, status epilepticus and reduced level of consciousness requiring mechanical ventilation. An MR scan of the brain showed multifocal inflammatory lesions, but with normal cerebrospinal fluid (CSF); blood results showed positive antinuclear antibody (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies (Abs), but normal complement and urine analysis. Commercial kit for cell-surface antineuronal antibodies, including anti-NMDAR (anti-N-Methyl-D-Aspartate Receptor antibody), anti-LGI1 (anti-Leucine-Rich Glioma-Inactivated 1 antibody), anti-CASPR2 (anti-Contactin-Associated Protein-Like 2 antibody), anti-GABA-BR (anti-Gamma-Aminobutyric Acid Type B Receptor antibody), anti-AMPAR (anti-α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic Acid Receptor antibody) and anti-DPPX (anti-Dipeptidyl-Peptidase-Like Protein-6 antibody), was negative in serum and CSF. We gave methylprednisolone, plasma exchange, rituximab and cyclophosphamide. However, despite initial improvement, he had five relapses. We reassessed the diagnosis and identified a thymoma; also, research laboratory testing with tissue-based and cell-based assays identified anti-GABA-AR Abs. He improved following thymectomy and with tocilizumab. This case underscores the complexity and varied presentations of anti-GABA-AR encephalitis with thymoma, emphasising the importance of comprehensive antibody testing in making this challenging diagnosis.

Pediatric Entomophthoramycosis in the Brazilian Amazon: A Challenging Diagnosis of a Rare Fungal Infection.

Quantification and detection of Mycobacterium tuberculosis, HIV-1 co-localization, and reciprocal expansion in spinal tuberculosis tissues.

Fasciitis-like primary breast pyoderma gangrenosum: A rare case report

Characterisation of Postural Orthostatic Tachycardia Syndrome (POTS): Findings from a physician chart-audit pre- and post-COVID-19.

Resistance to thyroid hormone due to a missense heterozygous mutation in the THR-β gene, a challenging diagnosis

Intraosseous Arteriovenous Malformation of the Mandible: a Rare and Challenging Diagnosis

Breast cancer remains a critical global health challenge, with timely and reliable diagnosis being essential for improving clinical outcomes. Although recent advances in computer aided diagnosis (CAD) have increasingly adopted deep learning, many existing solutions rely on computationally intensive architectures such as Transformer based models, deep ensemble models, multi scale attention networks, DenseNet based frameworks that limit their practical utility. To overcome this limitation, we proposed a comparatively lightweight Reciprocal Gating Fusion framework that integrates two efficient convolutional neural networks, SqueezeNet and ShuffleNetV2, enabling high quality feature extraction with substantially reduced computational overhead. The proposed reciprocal gating mechanism facilitates structured bidirectional interaction between the networks, enhancing complementary feature exchange while suppressing redundant responses to produce a more informative fused representation. Extensive empirical evaluations on benchmark datasets demonstrate strong performance and generalization capability, achieving 97% multiclass accuracy and 99% binary accuracy on the ICIAR-2018 dataset, along with 99.72% accuracy on the BreakHis dataset at 100× magnification. These results highlight the effectiveness of the proposed framework in delivering a precise and dependable CAD solution for breast cancer detection. The code is made available at: https://github.com/Cmatermedicalimageanalysis/RCG_ICIAR_Breakhis.

Neuroleptic malignant syndrome in an adolescent with the GNAO1 mutation movement disorder phenotype: a challenging diagnosis

Current research on digital educational resources primarily centers on higher education, rural education, or macro-level policy analysis. Systematic investigations into the management of digital educational resources in urban secondary schools remain limited, particularly with regard to comprehensive theoretical frameworks and practical strategies that integrate technological infrastructure, human capacity, and organizational governance. To advance understanding in this area, this study first develops a 4D analytical framework—encompassing Devices, Data, Digital Literacy, and Departmental Governance—by drawing on the Digital Readiness Framework, the Technology Acceptance Model (TAM), Technological Pedagogical Content Knowledge (TPACK), and Collaborative Governance Theory. Guided by this framework, the study conducts a systematic diagnosis of the core challenges and underlying causes in digital educational resource management at Secondary School A in City T, Shanxi Province. Subsequently, it proposes a comprehensive optimization pathway comprising equipment renewal planning and funding allocation, integrated data governance and regional sharing mechanisms, digital competency development through scenario-based training, and the establishment of organizational collaboration platforms with incentive support systems. Through the development and application of the 4D framework, this research not only contributes a contextually adaptable theoretical tool for managing digital educational resources in secondary schools but also provides actionable guidance for similar institutions seeking to address related challenges.

Background/Objectives: Cardiac sarcoidosis (CS) is a challenging diagnosis due to its subclinical progression and the limitations of existing screening tools. Cardiac magnetic resonance (CMR) and PET/CT imaging have improved diagnosis and detection. Aldosterone, a hormone with known profibrotic effects, may offer additional diagnostic value. We therefore aimed to determine whether plasma aldosterone level is associated with myocardial fibrosis, independent of active inflammation, in CS. Methods: This observational study included 541 patients with biopsy-proven sarcoidosis and preserved left ventricular ejection fraction (LVEF ≥ 50%). All underwent CMR with extracellular volume (ECV) mapping and 18F-FDG PET/CT to assess myocardial fibrosis and inflammation, respectively. Plasma aldosterone levels were also measured. Results: Plasma aldosterone levels were significantly higher in patients with cardiac sarcoidosis (172 [IQR 106-235] pg/mL) compared to those without cardiac involvement (143 [100-205] pg/mL, p = 0.02). Aldosterone was independently associated with the presence of late gadolinium enhancement (LGE) on CMR (OR 1.002 per 1 pg/mL increase; 95% CI 1.001-1.004, p = 0.04) and with higher ECV values (β = 0.008 per 1 pg/mL, p = 0.001). Regression analysis showed that aldosterone is associated with ECV (b-0.009, CI: 0.002-0.016, p = 0.009) and there was no interaction according to LGE status indicating a relationship with diffuse myocardial fibrosis even in the absence of visible scarring. No association was observed with T1-, T2-, or PET/CT-defined inflammation. Conclusions: Plasma aldosterone is a robust marker of myocardial fibrosis in sarcoidosis, particularly in early or subclinical stages. Its correlation with ECV-but not with inflammatory imaging markers-suggests its link with myocardial diffuse fibrotic remodeling before, and independently of, overt scarring or inflammation.

Background: Pyoderma gangrenosum (PG) is a rare, neutrophilic dermatosis characterized by rapidly progressive, painful ulceration, often associated with systemic diseases and triggered by trauma or surgery. Breast involvement is exceptionally uncommon, posing significant diagnostic challenges due to mimicry of infectious or malignant processes. Case presentation A 61-year-old postmenopausal woman (G5P5) with controlled type 2 diabetes presented with fever and a rapidly enlarging, painful ulcer on the right breast, progressing from a 1 cm pustule to an 8 × 5 cm lesion over one week despite oral antibiotics (Figure 1). Ultrasound revealed diffuse skin thickening without abscess (Figure 2). Negative cultures prompted surgical debridement and biopsy, which confirmed PG with necrotizing vasculitis and lymphoplasmacytic infiltration (Figure 3). Treatment with systemic corticosteroids (1 mg/kg prednisolone) led to complete healing within two months. Conclusion Breast PG requires high clinical suspicion to avoid unnecessary surgery. Early immunosuppressive therapy is crucial for optimal outcomes and preservation of breast aesthetics.