Project description:Paget-Schroetter Syndrome, or effort thrombosis, is a relatively rare disorder. It refers to axillary-subclavian vein thrombosis (ASVT) that is associated with strenuous and repetitive activity of the upper extremities 1. Anatomical abnormalities at the thoracic outlet and repetitive trauma to the endothelium of the subclavian vein are key factors in its initiation and progression. Doppler ultrasonography is the preferred initial test, but contrast venography is the gold standard for diagnosis 1, 2. Early diagnosis coupled with a multimodal treatment strategy is crucial for optimal outcomes. We present a case of a 21-year-old male in which point of care ultrasound (POCUS) expedited the diagnosis and subsequent early treatment of right subclavian vein thrombosis. He presented to our Emergency Department with acute swelling, pain and erythema of his right upper limb. He was promptly diagnosed to have thrombotic occlusion of the right subclavian vein using POCUS in our Emergency Department.
Project description:Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) is a multiorgan syndrome with rare and heterogenous cardiac manifestations. We present the case of a man with pericardial effusion complicated by cardiac tamponade, new onset atrial fibrillation, and high-degree atrioventricular block leading to a diagnosis of POEMS syndrome. (Level of Difficulty: Advanced.).
Project description:Plasma cell dyscrasias and myeloproliferative neoplasms (MPN) are hematologic malignancies arising from two distinct hematopoietic cell lineages. They rarely occur concomitantly. Here, we report a case of a patient with a recent diagnosis of a JAK2 V617F positive MPN who presented with a new diagnosis of plasma cell leukemia. The patient had presented to the hospital with a leukocytosis predominantly comprised of plasma cells, followed by work-up involving peripheral blood flow cytometry, FISH analysis, and bone-marrow biopsy. FISH analysis was suggestive of a common progenitor cell for these distinct hematologic malignancies. To our knowledge, this case represents the second reported instance of a concomitant JAK2 positive MPN with primary plasma cell leukemia.
Project description:The development of JAK2 inhibitors followed the discovery of activating mutation of JAK2 (JAK2V617F) in patients with classic Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPN). It is now known that mutations activating the JAK-STAT pathway are ubiquitous in Ph-negative MPN, and that the deregulated JAK-STAT pathway plays a central role in the pathogenesis of these disorders. JAK2 inhibitors thus are effective in patients both with and without the JAK2V617F mutation. This article reviews the rationale for using JAK2 inhibitors in Ph-negative MPN, and the results of more recent clinical trials with these drugs.
Project description:The discovery of the activating V617F mutation in Janus kinase 2 (JAK2) has been decisive for the understanding of myeloproliferative neoplasms (MPN). Activated JAK2 signaling by JAK2, CALR, and MPL mutations has become a focus for the development of targeted therapies for patients with MPN. JAK2 inhibitors now represent a standard of clinical care for certain forms of MPN and offer important benefits for MPN patients. However, several key aspects remain unsolved regarding the targeted therapy of MPN with JAK2 inhibitors, such as reducing the MPN clone and how to avoid or overcome a loss of response. Here, we summarize the current knowledge on the structure and signaling of JAK2 as central elements of MPN pathogenesis and feature benefits and limitations of therapeutic JAK2 targeting in MPN.
Project description:Hydroxyurea (HU) is a drug frequently used in the treatment of chronic myeloproliferative neoplasms. The most common side effects of this drug are pancytopenia, digestive and skin disorders. Respiratory complications are rare and there are less than 20 cases described, only 5 of which underwent an anatomopathological study. We present the case of a patient with chronic myeloproliferative neoplasm who developed interstitial pneumonitis probably due to HU according to histological study.
Project description:We present the case of a patient with myocardial infarction and COVID-19 disease who developed hemorrhagic pericardial effusion and cardiac tamponade. The differential diagnosis included post-infarction pericarditis and mechanical complications, thrombolysis, Dressler syndrome, and viral pericarditis. The histopathologic examination of the pericardial tissue sample and electron microscopic examination established the diagnosis. (Level of Difficulty: Advanced.).