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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome encompasses a range of Müllerian duct anomalies characterized by congenital absence of the uterus and the upper two-thirds of the vagina in young women who otherwise exhibit normal endocrine function and a 46,XX karyotype. MRKH syndrome can occur in an isolated form (type I) or in association with other congenital anomalies (type II or MURCS association), which may include renal, vertebral, auditory, and cardiac defects. It represents one of the most frequent causes of primary amenorrhea, affecting approximately 1 in every 4000–5000 women. MRKH syndrome often remains undiagnosed until a patient presents with primary amenorrhea, despite normal development of secondary sexual characteristics. Both genetic and non-genetic factors have been proposed as contributing to abnormal embryonic development, although the exact etiopathogenesis remains unclear. Imaging plays a key role in the evaluation of genital tract anomalies, allowing non-invasive and comprehensive assessment. Alongside physical examination and pelvic ultrasound, pelvic MRI is essential for identifying the presence of rudimentary uterine tissue. MRKH syndrome can have profound and lasting psychological impacts, making it essential for patients and their families to receive counseling both before and throughout treatment. A range of therapeutic options—both surgical and non-surgical—have been proposed for managing MRKH syndrome. Vaginal dilation remains the first-line treatment, as it offers high success rates with minimal risk of complications. Vaginoplasty is considered a second-line option for patients who do not respond to dilation therapy. Additionally, uterine transplantation and gestational surrogacy provide opportunities for women with MRKH syndrome to achieve biological motherhood. This review provides an updated overview of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, encompassing its etiological, clinical, diagnostic, psychological, therapeutic, and reproductive aspects. We also present a case involving a 19-year-old woman with MRKH syndrome who presented with primary amenorrhea, highlighting the crucial role and advantages of MRI in diagnosis, differential assessment, and treatment planning.

BackgroundBiomarkers could improve risk stratification in patients with acute ST-segment elevation myocardial infarction (STEMI), beyond left ventricular ejection fraction (LVEF). Our study evaluated the association between N-terminal pro-B-type natriuretic peptide (NT-proBNP), C reactive protein (CRP) and mortality in a cohort of patients with acute STEMI.MethodsThis prospective, observational cohort study included patients with reperfused acute STEMI admitted to a tertiary cardiovascular disease centre between July 2020 and October 2023. All patients underwent NT-proBNP and CRP testing. The association between NT-proBNP, CRP and all-cause mortality was evaluated in relation to predischarge LVEF.ResultsThe cohort included 566 patients with a mean age of 63 years. After a median follow-up of 39 months, postdischarge all-cause mortality reached 13.4%. NT-proBNP was associated with mortality irrespective of LVEF (HR 2.34 per SD increment in log NT-proBNP; p<0.001 at LVEF <50% and HR 2.36; p=0.004 at LVEF ≥50%), but the association between CRP and mortality was significant only in patients with LVEF <50% (HR 1.55, p=0.003). Across the cohort, NT-proBNP remained associated with death after adjustment for age, sex, diabetes, baseline high-sensitivity cardiac troponin T (hs-cTnT), CRP, final Thrombolysis in myocardial infarction (TIMI) flow grade and reduced LVEF (HR 1.45, p=0.03). In patients with preserved LVEF, routine NT-proBNP testing (area under the curve (AUC) 0.753 (0.642–0.863), p<0.001) improved risk stratification compared with isolated LVEF assessment (AUC 0.592 (0.453–0.730), p=0.18).ConclusionsIn a cohort of stabilised acute STEMI survivors, NT-proBNP was associated with all-cause mid-term mortality independent of hs-cTnT and LVEF. The association between CRP and mortality was significant only in patients with LVEF <50%.

Background: Transcatheter aortic valve replacement (TAVR) became the leading therapeutic strategy for aortic valve replacement in older patients with severe symptomatic aortic stenosis. Echocardiographic parameters that mark the left ventricle and right ventricle reverse remodeling after the TAVR are not well established. The aim of the current study is to describe the dynamics of both left ventricle (LV) and right ventricle (RV) strain derived from speckle tracking echocardiography in elderly patients at 3-months after the TAVR procedure. Methods: We enrolled 52 consecutive patients (77 [+ or -] 4.9 years old, median STS score of 3.1) who underwent transfemoral TAVR at our tertiary care center. All patients were evaluated at baseline and 3 months following TAVR. Results: The LV global longitudinal strain (GLS) 3-month following TAVR was significantly improved compared with baseline values (-16 [+ or -]4.2% vs -16 [+ or -]4.2%; p < 0.001) but no significant changes in the RV GLS 3 and 6 segments model following TAVR were registered. The LV ejection fraction was significantly improved 3-months after the TAVR procedure. LV-GLS at baseline demonstrated a strong positive correlation with LV-GLS at 3 months (r = 0.69) and a moderate correlation with RV strain parameters (r = 0.38 and r = 0.56), but also a negative correlation with LVEF at follow-up (r=-0.61). Interestingly, in contrast to LVEF, none of the strain parameters correlated with age. NT-proBNP values were correlated with both LV-GLS (r = 0.37) and LVEF (r=-0.5) at baseline. However, at follow-up, baseline NT-proBNP values remained correlated only to LV-GLS at 3-months (r = 0.24), but the correlation was weak. Keywords: elderly population, transcatheter aortic valve replacement, aortic stenosis, global longitudinal strain, outcome

Despite the promising results obtained by deep learning methods in the field of medical image segmentation, lack of sufficient data always hinders performance to a certain degree. In this work, we explore the feasibility of applying deep learning methods on a pilot dataset. We present a simple and practical approach to perform segmentation in a 2D, slice-by-slice manner, based on region of interest (ROI) localization, applying an optimized training regime to improve segmentation performance from regions of interest. We start from two popular segmentation networks, the preferred model for medical segmentation, U-Net, and a general-purpose model, DeepLabV3+. Furthermore, we show that ensembling of these two fundamentally different architectures brings constant benefits by testing our approach on two different datasets, the publicly available ACDC challenge, and the imATFIB dataset from our in-house conducted clinical study. Results on the imATFIB dataset show that the proposed approach performs well with the provided training volumes, achieving an average Dice Similarity Coefficient of the whole heart of 89.89% on the validation set. Moreover, our algorithm achieved a mean Dice value of 91.87% on the ACDC validation, being comparable to the second best-performing approach on the challenge. Our approach provides an opportunity to serve as a building block of a computer-aided diagnostic system in a clinical setting.

Macrotrabecular-massive hepatocellular carcinoma (MTM-HCC) is a rare and aggressive molecular subtype of hepatocellular carcinoma (HCC) associated with a poor prognosis. Unlike typical HCC, which commonly arises in the context of cirrhosis, MTM-HCC can develop in non-cirrhotic livers, presenting unique diagnostic and therapeutic challenges. This case report describes a 35-year-old male who presented with persistent epigastric pain, fatigue, and loss of appetite. Clinical examination revealed hepatomegaly, prompting advanced imaging and laboratory investigations. Imaging studies identified a large hepatic mass with portal vein thrombosis and metastatic lesions, while histopathological analysis confirmed the diagnosis of MTM-HCC. The patient initiated treatment with a combination of immune checkpoint inhibitors and anti-angiogenic agents, which represent the current standard for advanced HCC. Despite initial adherence, disease progression was observed after four cycles of therapy. The patient passed away less than two months after his last consultation. This clinical course highlights the aggressive nature of MTM-HCC and its limited responsiveness to existing therapeutic protocols. MTM-HCC is characterized by distinctive histological and molecular features that differentiate it from other HCC subtypes. These include specific genetic mutations and protein expression patterns that contribute to its aggressive behavior and poor prognosis. Advanced imaging modalities combined with histopathological analysis remain crucial for accurate diagnosis and classification. This case emphasizes the critical need for heightened clinical vigilance, particularly in younger patients with atypical presentations of liver disease. It also underscores the importance of developing more effective, tailored therapeutic strategies for MTM-HCC. Further research into its molecular characteristics and inclusion in clinical trials is essential to improving outcomes for patients with this challenging and understudied subtype of liver cancer.

Myopericytoma is a rare vessel wall tumor, a subtype of hemangiopericytoma that usually develops subcutaneously. Intravascular myopericytoma is a rarer subtype, with only few cases reported in the literature and even fewer with imaging modalities included. We report the case of a 36-year-old man who was referred to our institution with a painless, palpable mass in the right arm and was evaluated with MRI, grey-scale and Doppler-mode ultrasound. Tumor histopathology and imaging characteristics are presented together with the role that each imaging modality played in the management of the patient.

Background/Objectives: Mediastinal tumors, regardless of their location, can grow to significant sizes, causing compression-related symptoms. The term “giant” mediastinal tumor is inconsistently defined in the literature. This study presents a new clinical–radiological classification (CRC) for mediastinal tumors and evaluates its applicability through a systematic review and a detailed case analysis of a giant thymolipoma. Methods: A systematic review of the literature from the past decade was conducted using PubMed to identify relevant studies on “giant” mediastinal tumors. The inclusion criteria focused on studies involving adult patients with documented tumor size and symptomatology. The review identified 22 studies, with most anterior mediastinal tumors classified as CRC 3 (81%), indicating “giant” tumors. Thymolipomas accounted for 58% of these cases. Tumor volume and weight correlated with symptom severity, guiding surgical approaches. The proposed CRC effectively standardized the definition of “giant” tumors. The case analysis of a 6.84 kg thymolipoma highlighted the challenges of surgical resection, confirming the importance of tailored surgical strategies for large tumors. Results: The review of the literature revealed a significant variation in tumor size and weight across the different mediastinal compartments. Symptomatic tumors (CRC stage 3) located in the anterior mediastinum exhibited the largest volumes and weights, with an average volume of 4949 mL (range: 2013–8840 mL) and an average weight of 4137 g (range: 1575–7500 g). In comparison, tumors in the posterior mediastinum ranked second in terms of size, with an average volume of 2128 mL (range: 1040–5460 mL) and an average weight of 2489 g (range: 1009–6000 g). Tumors located in the middle mediastinum were considerably smaller, with an average volume of 536 mL (range: 21–1092 mL). Among the largest symptomatic tumors in the anterior mediastinum, thymolipomas were the most frequently observed histologic type. These findings underscore a clear size gradient across the mediastinal compartments, with the anterior mediastinum harboring the largest symptomatic tumors, followed by the posterior mediastinum, and the smallest tumors in the middle mediastinum. Conclusions: The novelty of the study lies mainly in the new clinical–radiological classification (CRC) of mediastinal tumors. This classification integrates clinical presentation and cross-sectional imaging findings, offering a standardized framework for tumor reporting. In addition, it provides a precise definition of “giant” mediastinal tumors. The findings emphasize the need for early surgical intervention to prevent severe symptoms and complications. This study also showcases the largest enbloc-resected thymolipoma reported in the recent literature, supporting the utility of the proposed classification in clinical practice.

Objectives: Our aim was to determine imaging-derived parameters from echocardiography associated with the presence of atrial fibrosis in a cohort of atrial fibrillation (AF) patients. Methods: Initially, 123 participants were included in this prospective cross-sectional observational study (clinicaltrials.gov: NCT03584126); after exclusion criteria, 112 full datasets were analyzed. All participants underwent clinical evaluation, echocardiography, and cardiac MRI. Overall, 29 patients with AF and left atrial (LA) fibrosis at MRI, 37 with AF and without LA fibrosis at MRI, and 46 healthy controls were included in the final database. Results: The cardiac structural parameters as assessed by MRI were not significantly different between AF patients with and without fibrosis, apart from LA volume. The area under the curve (AUC) reached a value of 0.69 when using body-surface-area-indexed LA volume (LAVi) determined by echocardiography as a factor associated with LA fibrosis in AF patients. Moreover, when detecting LA fibrosis using LAVi, an optimal cut-off value of 42.7 mL/m2 was obtained, resulting in 41.67% specificity and 88.46% sensitivity with a total accuracy of 65.06%. Testing BSA-indexed left ventricular mass (LVMi) as a factor associated with LA fibrosis, the optimal cut-off value was 140.2 g/m2, with 76.92% sensitivity, 58.33% specificity and 67.62% total accuracy for the discrimination between AF patients with and without LA fibrosis. A strong association between body-surface-area-indexed left atrial volume (LAVi) and the presence of atrial fibrillation was identified (54.5 mL/m2 vs. 29.8 mL/m2 in controls, p-value < 0.0001). Conclusion: LA volume indexed to BSA could be a promising tool for the identification of cardiac fibrosis in AF patients.

The translocation involves a fusion between one of the SSX genes (SSX1, SSX2, or SSX4) and the SS18 gene (SYT), with the fusion protein participating in the formation of the SWI/SNF and Polycomb complexes, playing a role in epigenetic gene regulation. In the described patient, the negative FISH test for this translocation did not allow for a clear differential diagnosis. [...]BCL-2 analysis was subsequently performed. The use of gene expression studies (RNAseq) is becoming useful for understanding the epigenetic mechanisms underlying synovial sarcoma and its prognosis and aggressiveness [4]. [...]we reiterate the significance of imaging in achieving an accurate diagnosis, particularly concerning the precise localization of pericardial tumors, including those of uncommon occurrence.

Cardiac tumors are a very rare but heterogenous group of diseases that may reveal themselves through a variety of nonspecific cardiac symptoms that may pose a challenge to the diagnostic process. Myxofibrosarcoma is a particularly rare type of cardiac tumor that carries a poor prognosis, thus making accurate and timely diagnosis essential. A 61-year-old woman presented with fatigue and shortness of breath during mild exercise, symptoms that have progressively worsened during the previous year. Multimodality imaging consisting of transthoracic and transesophageal echocardiography (TTE and TEE), cardiac magnetic resonance (CMR), cardiac computer tomography (CCT), and fluorodeoxyglucose positron emission computer tomography (18F-FDG PET-CT) was used for the diagnosis and postoperative follow-up of a myxofibrosarcoma.