Cardiovascular magnetic resonance in muscular dystrophies: looking ahead.

Cardiac magnetic resonance (CMR) is an established tool for risk stratification in several cardiomyopathies, and its role in muscular dystrophies (MuD) looks promising. We sought to assess how CMR performs in predicting cardiac events in a real cohort of MuD patients. A prospective single-center study with the enrollment of consecutive adult MuD patients referred to cardiac screening from 2012 to 2018 with the collection of clinical and CMR data. During follow-up (FUP), major adverse cardiac events were considered a composite of device implantation, ventricular tachycardia (VT), hospitalization due to heart failure, and death. Sixty-five patients were included (mean age of 32±16, 51% female); the majority had myotonic dystrophy (34; 52.3%); most were asymptomatic (60; 92.3%) and at sinus rhythm (64; 98.5%). CMR was abnormal in 23 (43.3%) patients: left ventricle ejection fraction (LVEF) <55% was found in 7 patients, and late gadolinium enhancement (LGE) was present in 23 patients, mainly intra-myocardial or subepicardial (10 and 8 patients, respectively). During a median FUP of 77 months (interquartile range: 33), there were 7 deaths, 8 implanted devices, and one sustained VT. LVEF<55% and the presence of LGE were associated with the occurrence of all events (log rank test, p=0.002 and p=0.045, respectively). LVEF<55% was associated with a 6-fold higher risk of events (crude hazard ratio of 6.15; 95% confidence interval of 1.65-22.93), that remained significant after adjusting for LGE presence (adjusted hazard ratio of 4.81, 95% confidence interval of 1.07-15.9). In our cohort, CMR LVEF<55% and the presence of LGE were significantly associated with adverse events during follow-up, reinforcing the role of this technique on risk stratification of MuD populations.

Kaposiform hemangioendothelioma of the thigh: A case report.

Kaposiform hemangioendothelioma is a rare, locally aggressive or borderline vascular tumor that typically affects infants. It presents as a purpuric cutaneous lesion and may be associated with life-threatening coagulation disorders, such as the Kasabach-Merritt phenomenon. The differential diagnosis can be challenging based on clinical presentation alone. Imaging plays a crucial role in the diagnostic workup, particularly magnetic resonance imaging. We present a case report of a 4-month-old patient with an enlarging vinous cutaneous mass on the thigh and coagulation abnormalities. Magnetic resonance imaging revealed a large, infiltrative, soft-tissue lesion with poorly defined margins and heterogeneous enhancement, that involved all muscle compartments of the thigh and was associated with lymphedema, stranding of the subcutaneous fat and cutaneous thickening. These findings were consistent with kaposiform hemangioendothelioma of the thigh and the diagnosis was confirmed by histopathological characterization.

Ovarian clear cell carcinoma arising in a large endometrioma - A case report with pathological correlation and literature review.

Endometriosis-associated ovarian cancer represents the most common form of malignancy associated with this benign disease. It has a better prognosis than most types of ovarian cancer, with endometrioid adenocarcinoma and clear cell carcinoma as the main histological types. Clinical presentation is usually nonspecific and tumor biomarkers can be misleading, since they can also be elevated in the presence of benign ovarian endometriosis. We report a case of a 52-year-old woman with known ovarian and deep pelvic endometriosis, who developed ovarian clear cell carcinoma within a large endometrioma. The imaging findings highlight the key role of magnetic resonance imaging in detecting suspicious features such as loss of the "T2 shading" sign, loss of high T1 signal of an endometrioma, or the presence of mural nodules. Early detection of these malignancies is fundamental for adequate surgical treatment and overall outcome.

Multisystemic BCGitis: A rare complication of intravesical BCG immunotherapy for bladder cancer.

Intermediate- to high-grade non-muscle invasive bladder cancer is preferably treated with transurethral resection followed by adjuvant intravesical immunotherapy with Bacillus Calmette-Guérin (BCG). BCG acts as an immune stimulator, inducing a complex inflammatory response that selectively targets tumoral cells. Mild side effects of BCG instillation, such as fever, malaise, and bladder irritation are frequent, while severe treatment-associated complications of the genito-urinary tract are rare. "Distant" complications are even rarer and, since BCG is able to disseminate hematogenously, virtually all organs and systems can be involved, with the lungs, liver and musculoskeletal system being most commonly affected. Vascular complications of BCG immunotherapy are exceedingly rare and difficult to diagnose, because they can mimic other vascular infections and may occur several years after treatment. Knowledge of previous BCG immunotherapy and awareness about treatment-related complications is essential to avoid misdiagnosis, and to guide appropriate treatment.

Extensive Colonic Pneumatosis, Pneumoperitoneum, Pneumomediastinum and Subcutaneous Emphysema - a Rare Pattern of Complications in Acute Lymphoblastic Leukemia.

Teaching Point: Intestinal pneumatosis associated with pneumoperitoneum, pneumomediastinum, and subcutaneous emphysema is an extremely rare complication of leukemia; even though its imaging appearance can be alarming, a benign treatment-associated etiology should always be considered in this subset of patients so that unnecessary interventions can be avoided.

Herlyn-Werner-Wunderlich syndrome: A case report in a young woman, with literature review.

Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually leads to impairment of normal menstrual flow, resulting in symptoms after menarche, namely dysmenorrhea, pelvic pain or infertility. Age of presentation depends on the anatomical features of this anomaly. We report a case of a 21-year-old female presenting with few symptoms and incidental findings on transvaginal ultrasound, with typical findings of this disorder on magnetic resonance imaging, which remains the gold standard imaging technique for thorough assessment of Herlyn-Werner-Wunderlich syndrome, allowing for a correct diagnosis and adequate surgical management. Our case also highlights some unusual features, such as the presence of a blind ectopic ureter, with hematic content, and an incomplete septum within the obstructed hemivagina.

Multiple instance learning for lung pathophysiological findings detection using CT scans.

Lung diseases affect the lives of billions of people worldwide, and 4 million people, each year, die prematurely due to this condition. These pathologies are characterized by specific imagiological findings in CT scans. The traditional Computer-Aided Diagnosis (CAD) approaches have been showing promising results to help clinicians; however, CADs normally consider a small part of the medical image for analysis, excluding possible relevant information for clinical evaluation. Multiple Instance Learning (MIL) approach takes into consideration different small pieces that are relevant for the final classification and creates a comprehensive analysis of pathophysiological changes. This study uses MIL-based approaches to identify the presence of lung pathophysiological findings in CT scans for the characterization of lung disease development. This work was focus on the detection of the following: Fibrosis, Emphysema, Satellite Nodules in Primary Lesion Lobe, Nodules in Contralateral Lung and Ground Glass, being Fibrosis and Emphysema the ones with more outstanding results, reaching an Area Under the Curve (AUC) of 0.89 and 0.72, respectively. Additionally, the MIL-based approach was used for EGFR mutation status prediction - the most relevant oncogene on lung cancer, with an AUC of 0.69. The results showed that this comprehensive approach can be a useful tool for lung pathophysiological characterization.

Towards Machine Learning-Aided Lung Cancer Clinical Routines: Approaches and Open Challenges.

Advancements in the development of computer-aided decision (CAD) systems for clinical routines provide unquestionable benefits in connecting human medical expertise with machine intelligence, to achieve better quality healthcare. Considering the large number of incidences and mortality numbers associated with lung cancer, there is a need for the most accurate clinical procedures; thus, the possibility of using artificial intelligence (AI) tools for decision support is becoming a closer reality. At any stage of the lung cancer clinical pathway, specific obstacles are identified and "motivate" the application of innovative AI solutions. This work provides a comprehensive review of the most recent research dedicated toward the development of CAD tools using computed tomography images for lung cancer-related tasks. We discuss the major challenges and provide critical perspectives on future directions. Although we focus on lung cancer in this review, we also provide a more clear definition of the path used to integrate AI in healthcare, emphasizing fundamental research points that are crucial for overcoming current barriers.

Sharing Biomedical Data: Strengthening AI Development in Healthcare.

Artificial intelligence (AI)-based solutions have revolutionized our world, using extensive datasets and computational resources to create automatic tools for complex tasks that, until now, have been performed by humans. Massive data is a fundamental aspect of the most powerful AI-based algorithms. However, for AI-based healthcare solutions, there are several socioeconomic, technical/infrastructural, and most importantly, legal restrictions, which limit the large collection and access of biomedical data, especially medical imaging. To overcome this important limitation, several alternative solutions have been suggested, including transfer learning approaches, generation of artificial data, adoption of blockchain technology, and creation of an infrastructure composed of anonymous and abstract data. However, none of these strategies is currently able to completely solve this challenge. The need to build large datasets that can be used to develop healthcare solutions deserves special attention from the scientific community, clinicians, all the healthcare players, engineers, ethicists, legislators, and society in general. This paper offers an overview of the data limitation in medical predictive models; its impact on the development of healthcare solutions; benefits and barriers of sharing data; and finally, suggests future directions to overcome data limitations in the medical field and enable AI to enhance healthcare. This perspective is dedicated to the technical requirements of the learning models, and it explains the limitation that comes from poor and small datasets in the medical domain and the technical options that try or can solve the problem related to the lack of massive healthcare data.

Growing Teratoma Syndrome: A Rare Outcome.

Growing teratoma syndrome is a rare condition described in both testicular and ovarian cancer. We present a case of a 26-year-old male with known mixed germ cell tumor which exhibited new and progressive secondary lesions during imaging surveillance, later to be histologically characterized as teratomas.

Gastric metastases from invasive lobular carcinoma of the breast: Case report.

Invasive lobular carcinoma is the second most common type of invasive carcinoma of the breast. Although rare, invasive lobular carcinoma can lead to gastric metastases, which may appear several years after the initial diagnosis. The diagnosis is difficult, either because of its rarity or because of overlapping symptoms and imaging findings with primary gastric carcinoma. Immunohistochemistry is the key to diagnosis. We report a case of a 40-year-old woman with a previous history of invasive lobular carcinoma of the breast 2 years before, who presented recurrent and nonspecific gastrointestinal symptoms. Imaging findings revealed linitis plastica and the biopsy showed the presence of signet ring cell neoplasia. After gastrectomy, immunohistochemistry demonstrated diffuse expression of GATA-3 and the presence of estrogen receptors in some neoplastic cells with CK20-, leading to the final diagnosis of gastric metastases from invasive lobular carcinoma of the breast.

Kimura's disease: a rare cause of facial mass in a caucasian male patient.

Kimura's disease is an uncommon inflammatory disorder of unclear aetiology, mainly affecting young Asian descent males among their second and fourth decades of life. The disease typically emerges as a long-standing and painless subcutaneous mass lesion in the head and neck region, frequently associated with swelling of major salivary glands, particularly the parotid gland, and regional lymphadenopathy. Peripheral eosinophilia and high serum immunoglobulin E are also characteristic findings. We report a case and describe the imaging and pathological features of the disease in a 19-year-old Caucasian male, with review of the literature.

Currarino triad: A case report of a 48-year-old patient with a neuroendocrine tumor.

Currarino triad is a rare syndrome, with less than 250 cases reported, and it includes a combination of sacrococcigeal bony abnormalities, anorectal malformations and the presence of a presacral mass. Here we present a case of a 48-year-old male patient with history of severe chronic constipation, who was incidentally diagnosed with a presacral during imagiological investigation, which was histologically proven to be a neurendocrine tumor.

Congenital systemic venous drainage obstruction: A case report.

BACKGROUND: Vena cava anomalies are rare congenital defects due to incorrect development during fetal life, ranging from minor asymptomatic anatomic variations to complex life-threatening abnormalities. Echocardiography plays a fundamental role in the diagnosis, with advanced imaging techniques allowing detailed anatomic delineation. Invasive cardiology techniques are a promising therapeutic approach, but surgery is probably the best option when diffuse compromise of the systemic veins is present. CASE REPORT: An 8-month-old infant presenting episodes of labial cyanosis and a failure to thrive was diagnosed with severe superior vena cava (SVC) stenosis at the right atrium ostium, with decompression via azygos vein and mild inferior vena cava (IVC) stenosis. The patient was referred for surgery, with IVC enlargement and removal of a fibromuscular tissue band on the anterior aspect of the SVC ostium. At a 6-month follow-up, the patient is asymptomatic, with excellent surgical outcome. To the authors' knowledge, only two cases of congenital SVC stenosis have been previously described.

Comprehensive Perspective for Lung Cancer Characterisation Based on AI Solutions Using CT Images.

Lung cancer is still the leading cause of cancer death in the world. For this reason, novel approaches for early and more accurate diagnosis are needed. Computer-aided decision (CAD) can be an interesting option for a noninvasive tumour characterisation based on thoracic computed tomography (CT) image analysis. Until now, radiomics have been focused on tumour features analysis, and have not considered the information on other lung structures that can have relevant features for tumour genotype classification, especially for epidermal growth factor receptor (EGFR), which is the mutation with the most successful targeted therapies. With this perspective paper, we aim to explore a comprehensive analysis of the need to combine the information from tumours with other lung structures for the next generation of CADs, which could create a high impact on targeted therapies and personalised medicine. The forthcoming artificial intelligence (AI)-based approaches for lung cancer assessment should be able to make a holistic analysis, capturing information from pathological processes involved in cancer development. The powerful and interpretable AI models allow us to identify novel biomarkers of cancer development, contributing to new insights about the pathological processes, and making a more accurate diagnosis to help in the treatment plan selection.

Myocardial Edema: an Overlooked Mechanism of Septic Cardiomyopathy?

Septic cardiomyopathy is an increasingly relevant topic in clinical management of septic shock. However, pathophysiological mechanisms and long-term consequences of sepsis-induced myocardial injury are still poorly understood. Herein, new clinical and histological evidence is provided suggesting an association of myocardial edema formation with tissue injury and subsequent remodeling in septic shock patients. This preliminary data supports myocardial edema as a potentially relevant and largely unexplored mechanism of human septic cardiomyopathy.