Publications by authors named "Mascarenhas J"

Despite the study of BCR::ABL1-positive and -negative myeloproliferative neoplasms (MPNs) providing seminal insights into cancer biology, tumor evolution and precision oncology over the past half century, significant challenges remain. MPNs are clonal hematopoietic stem cell-derived neoplasms with heterogenous clinical phenotypes and a clonal architecture which impacts the often-complex underlying genetics and microenvironment. The major driving molecular abnormalities have been well characterized, but debate on their role as disease-initiating molecular lesions continues.

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Background: Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of somatic mutations in myeloid and lymphoid malignancy genes in the blood cells of individuals without a hematologic malignancy. Inflammation is hypothesized to be a key mediator in the progression of CHIP to hematologic malignancy and patients with CHIP have a high prevalence of inflammatory diseases. This study aimed to identify the prevalence and characteristics of CHIP in patients with inflammatory bowel disease (IBD).

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The oral Janus kinase (JAK) 1/JAK2 inhibitor ruxolitinib was approved by the US Food and Drug Administration in 2014 for treatment of patients with polycythemia vera (PV) who have an inadequate response to or intolerance of hydroxyurea (HU). PV is a chronic myeloproliferative neoplasm defined by primary absolute erythrocytosis, bone marrow hypercellularity, and JAK mutations such as JAK2V617F. Patients with PV experience burdensome symptoms and are at risk of thromboembolic events, in particular those with resistance to or intolerance of initial treatments such as HU.

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Article Synopsis
  • - Polycythemia vera (PV) is a rare blood disorder affecting around 65,000 Americans, characterized by an increased mass of red blood cells, leading to a higher risk of blood clots, with symptoms such as itching and enlarged spleen.
  • - Diagnosis often involves identifying elevated hemoglobin levels and the presence of a specific JAK2 gene variant, with many patients also experiencing increased platelet and white blood cell counts; survival rates range from 14 to 28 years following diagnosis.
  • - Treatment typically includes therapeutic phlebotomy and low-dose aspirin for thrombosis prevention, with higher-risk patients possibly receiving additional therapies like hydroxyurea or Ruxolitinib for symptom relief; a small percentage may
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Since 1971, North Carolina (NC) has been the leading sweetpotato-producing state in the United States (US) and is now producing more than half of the nation's annual output. Due to the high demand for US sweetpotatoes from international markets, NC allocates roughly 40% of its sweetpotatoes for export. However, low fungicide residue limits in primary export markets restricts the ability for NC producers to apply fungicides for disease management during sweetpotato production.

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  • * It involved measuring PCT and NLR levels on days 0, 2, and 4 post-admission, finding that PCT decreased while NLR initially rose before falling by day 4, and SOFA scores remained stable.
  • * The research concludes that tracking these biomarkers can improve diagnosis and treatment of sepsis, ultimately enhancing patient outcomes through better understanding of infection severity and timely interventions.
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Spleen volume reduction (SVR) is a key endpoint in inhibitors of Janus kinase (JAK) inhibitor studies. Retrospective analyses have demonstrated an association between SVR and improved overall survival (OS) among patients treated with ruxolitinib with a platelet count > 100 × 10/L. Whether this association occurs in patients with thrombocytopenia is unclear.

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  • - Advanced systemic mastocytosis (AdvSM) is a rare blood cancer characterized by harmful accumulation of abnormal mast cells in various organs, leading to organ damage and decreased life expectancy.
  • - The identification of the D816V mutation has spurred the development of targeted therapies like avapritinib, which have improved patients' quality of life but still face management challenges.
  • - This review discusses the future of AdvSM treatments, including new KIT inhibitors like elenestinib and bezuclastinib, as well as the role of stem cell transplantation and ongoing clinical management issues.
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Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of somatic mutations in myeloid and lymphoid malignancy genes in the blood cells of individuals without a hematologic malignancy. Inflammation is hypothesized to be a key mediator in the progression of CHIP to hematologic malignancy and patients with CHIP have a high prevalence of inflammatory diseases. This study aimed to identify the prevalence and characteristics of CHIP in patients with inflammatory bowel disease (IBD).

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Primary myelofibrosis (PMF) is the most aggressive of the myeloproliferative neoplasms and patients require greater attention and likely require earlier therapeutic intervention. Currently approved treatment options are limited in their selective suppression of clonal proliferation resulting from driver- and coexisting gene mutations. Janus kinase inhibitors are approved for symptomatic patients with higher-risk PMF.

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  • The Society for Cardiovascular Angiography & Interventions (SCAI) focuses on supporting interventional cardiology professionals and patients through various initiatives.
  • The SCAI Scientific Oversight Committee reviews the scientific needs of its members annually, utilizing survey-based research to understand practice patterns and perspectives.
  • This document serves as a guide for developing relevant surveys, ensures transparency in the survey process, establishes evaluation criteria, and encourages collaboration among SCAI members to enhance the impact of findings within the cardiology community.
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  • - A new framework for defining anemia severity and treatment response in myelofibrosis (MF) aims to improve clinical studies and comparisons as new drugs emerge in this area.
  • - The revised criteria will address gender differences in hemoglobin levels and update the definition of transfusion-dependent anemia (TDA) to align with current practices.
  • - The updated guidelines introduce specific eligibility thresholds for hemoglobin levels and establish distinct response criteria (major vs. minor) while maintaining a 12-week observation period on treatment.
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Background: Chronic myelomonocytic leukemia (CMML) is a rare and likely underdiagnosed hematologic malignancy. Due to its rarity and nuances in diagnosis, many patients are referred to tertiary referral centers, although many continue to be cared for in the community setting. Given discrepancies in outcomes based on facility type in related myeloid malignancies, we hypothesized that CMML patients treated at academic centers may have improved survival as compared to patients treated at nonacademic centers (NACs).

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Background: Outcomes are dismal for patients with myelofibrosis (MF) who are no longer responsive to JAK2 inhibitors (JAKi) and/or have increasing blast cell numbers. Although prior reports have suggested the benefits of intravenous decitabine (DAC) combined with ruxolitinib for patients with Myeloproliferative Neoplasm (MPN) accelerated/blast phase (AP/BP), decitabine-cedazuridine (DEC-C), an oral fixed-dose combination providing equivalent pharmacokinetic exposure, has not been evaluated in MF.

Methods: We conducted a retrospective analysis of 14 patients with high-risk MF refractory to ruxolitinib or MPN-AP (10-19% blasts) treated with DEC-C +/- JAKi at Mount Sinai Hospital from 2021 to 2024.

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Patients with myeloproliferative neoplasms (MPNs) face chronic symptom burden. Online symptom assessment studies allow for recruitment of large numbers of motivated patients, but patient self-selection can lead to sampling bias. This study evaluated how gender representativeness in MPN symptom surveys and trials impacted symptom score mean estimates, using data from 4825 survey respondents and 291 trial participants with MPNs.

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  • The study focuses on Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-MPNs), specifically polycythemia vera (PV), essential thrombocythemia (ET), and prefibrotic primary myelofibrosis (prePMF), by analyzing karyotypes and genomic data from 169 patients.
  • A combination of conventional cytogenetics and array Comparative Genomic Hybridization + Single Nucleotide Polymorphism methods revealed genomic alterations in 36% of patients, with 68% of those who progressed showing abnormal findings.
  • The research highlights that patients with cytogenetic abnormalities had shorter progression-free survival, emphasizing the significance of genomic analysis for predicting disease progression and informing treatment choices.
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Patients with inflammatory bowel disease (IBD) are exposed to chronic systemic inflammation and are at risk for secondary malignancies. Here we review the literature on the risk of myeloid neoplasms (MN) in IBD and present the disease profiles of patients at a single institution with IBD who later developed MN, comparing them to those in the literature. No IBD characteristic was found to associate with MN disease severity, including the previously-identified association between MNs and thiopurine exposure.

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The emergence of next generation sequencing and widespread use of mutational profiling in acute myeloid leukemia (AML) has broadened our understanding of the heterogeneous molecular basis of the disease. Since genetic sequencing has become a standard practice, several driver mutations have been identified. Accordingly, novel targeted therapeutic agents have been developed and are now approved for the treatment of subsets of patients that carry mutations in FLT3, IDH1, and IDH2 [1, 2].

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Interferons are cytokines with immunomodulatory properties and disease-modifying effects that have been used to treat myeloproliferative neoplasms (MPNs) for more than 35 years. The initial use of interferons was limited due to difficulties with administration and a significant toxicity profile. Many of these shortcomings were addressed by covalently binding polyethylene glycol to the interferon structure, which increases the stability, prolongs activity, and reduces immunogenicity of the molecule.

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Patients with acute myeloid leukemia (AML) may experience extramedullary involvement when disease is present outside of the blood and bone marrow. In particular, the presence of central nervous system (CNS) involvement has traditionally been thought of as a poor prognostic factor. In the presently available literature, there is a paucity of conclusive data surrounding CNS AML given its rarity and lack of unified screening practices.

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