Publications by authors named "Randi M"

Article Synopsis
  • People with essential thrombocythemia (ET) usually take low-dose aspirin once a day to avoid blood clots, but this isn't always effective because their platelet levels change quickly.
  • A study tested if taking aspirin twice a day would work better and found that it did help lower certain blood markers and symptoms over 20 months.
  • The results showed that twice-daily aspirin caused fewer major blood clots, didn't lead to significant bleeding problems, and made patients feel better overall compared to taking it once a day.
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This study investigated the impact of micropollutants on fish health from Segredo hydroelectric reservoir (HRS) along the Iguaçu River, Southern Brazil, contaminated by urban, industrial, and agricultural activities. This is the first comprehensive study assessment in the river after the severe drought in the 2020s in three fish species from different trophic levels Astyanax spp. (water column depth/omnivorous), Hypostomus commersoni (demersal/herbivorous), and Pimelodus maculatus (demersal/omnivorous).

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Background: Erythrocytosis is a relatively common condition; however, a large proportion of these patients (70%) remain without a clear etiologic explanation.

Methods: We set up a targeted NGS panel for patients with erythrocytosis, and 118 sporadic patients with idiopathic erythrocytosis were studied.

Results: In 40 (34%) patients, no variant was found, while in 78 (66%), we identified at least one germinal variant; 55 patients (70.

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The degradation of water resources available for human consumption is increasing with the continuous release of chemicals into aquatic environments and their inefficient removal in wastewater treatment. Several watersheds in Brazil, such as the Iguaçu River, are affected by multiple sources of pollution and lack information about their pollution status. The Iguaçu River basin (IRB) has great socioeconomic and environmental relevance to both the supply of water resources and its considerable hydroelectric potential, as well as for the high rate of endemism of its ichthyofauna.

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Bioaccumulation studies in fish mark the initial phase of assessing the risk of chemical exposure to biota and human populations. The Iguaçu River boasting a diverse endemic ichthyofauna, is grappling with the repercussions of human activities. This study delved into the bioaccumulation of micropollutants, the early-warning effects on Rhamdia quelen and Oreochomis niloticus in the Segredo Reservoir (HRS) and the potential risk of human exposure.

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The molecular basis of Down syndrome (DS) predisposition to leukemia is not fully understood but involves various factors such as chromosomal abnormalities, oncogenic mutations, epigenetic alterations, and changes in selection dynamics. Myeloid leukemia associated with DS (ML-DS) is preceded by a preleukemic phase called transient abnormal myelopoiesis driven by gene mutations and progresses to ML-DS via additional mutations in cohesin genes, , , or pathway genes. DS-related ALL (ALL-DS) differs from non-DS ALL in terms of cytogenetic subgroups and genetic driver events, and the aberrant expression of , mutations, and pathway-activating mutations are frequent in ALL-DS.

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Acute myeloid leukemia (AML) is a malignant blood cancer with marked cellular heterogeneity due to altered maturation and differentiation of myeloid blasts, the possible causes of which are transcriptional or epigenetic alterations, impaired apoptosis, and excessive cell proliferation. This neoplasm has a high rate of resistance to anticancer therapies and thus a high risk of relapse and mortality because of both the biological diversity of the patient and intratumoral heterogeneity due to the acquisition of new somatic changes. For more than 40 years, the old gold standard "one size fits all" treatment approach included intensive chemotherapy treatment with anthracyclines and cytarabine.

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Article Synopsis
  • Hereditary erythrocytosis is a rare condition with excessive red blood cell production, and a study involved 2,160 patients across Europe focusing on the EGLN1 gene.
  • Researchers identified 39 mutations in the EGLN1 gene, including one deletion, which encodes the PHD2 enzyme that regulates the hypoxia-inducible factor.
  • The study assessed the effects of these mutations through various methods, identifying 16 as pathogenic, and highlighted the importance of collaborative research in addressing rare genetic disorders.
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Patients suffering from chronic anemia can benefit from scheduled transfusions of packed red blood cells (PRBCs), while urgent transfusions have specific indications. These patients frequently seek medical attention in the emergency department (ED), where they can be inappropriately transfused, but research in this field is limited. This study aimed to assess the appropriateness of PRBCs transfusions in chronic anemic patients in the ED.

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Article Synopsis
  • Incorporating real-world data into drug development enhances health outcomes by reflecting actual drug safety and efficacy patterns.
  • A study with 154 myelofibrosis patients treated with ruxolitinib showed a median drug exposure of 29 months, with a 27% discontinuation rate primarily due to infections and hematological toxicities matching previous research.
  • Significant spleen response was observed in 68% of patients, correlating with improved overall survival, while factors like larger splenomegaly and delayed treatment onset negatively impacted outcomes.
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Aquatic biota is increasingly being exposed to chemical pollutants due to human activities and the relationship between the level of environmental pollution and fish reproduction is a continuously ongoing issue. The vitellogenin (Vtg) protein synthesis can be induced in the liver of juvenile and male fish after stimulation of the estrogen receptor and therefore, Vtg has been used as a biomarker of xenoestrogen exposure in several fish species. The current study reported the first physicochemical characterization of Vtg from Oreochromis niloticus.

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Introduction: To evaluate the safety and effectiveness of insulin glargine 300 U/mL (Gla-300) in people with type 2 diabetes mellitus (T2DM) in the Gulf region who fast during Ramadan.

Methods: ORION was a real-world, prospective, observational study in people with T2DM treated with Gla-300 during pre-Ramadan, Ramadan, and post-Ramadan periods. This subgroup analysis included 222 participants from the Gulf region (Kuwait, Saudi Arabia, United Arab Emirates, and Qatar).

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This paper reviews the features of pediatric essential thrombocythemia (ET). ET is a rare disease in children, challenging pediatric and adult hematologists alike. The current WHO classification acknowledges classical Philadelphia-negative MPNs and defines diagnostic criteria, mainly encompassing adult cases.

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Article Synopsis
  • - Essential thrombocythemia (ET) is a blood disorder that leads to an increase in platelet production and can cause complications like blood clots; standard low-dose aspirin does not adequately inhibit platelet function in these patients.
  • - The ARES trial investigated the effectiveness of varying doses of aspirin and found that the platelet count and cytoreductive treatment (which lowers platelet levels) significantly influence how well aspirin works in ET patients, with notable differences between those on and off cytoreductive drugs.
  • - Ultimately, more frequent dosing of aspirin (twice or three times daily) improves platelet inhibition and minimizes response variability among patients, regardless of whether they are undergoing cytoreductive treatment or not.
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In western countries, about half of the hospitalized patients are anemic. Generally, these patients are old, often with multiple diseases, and anemia worsens the prognosis, finally increasing the risk of death. We describe a monocentric observational study that evaluates 249 consecutive adult patients (160 women and 89 men) with anemia admitted in the internal medicine department over five months.

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Essential thrombocythemia (ET) is characterized by abnormal megakaryopoiesis and enhanced thrombotic risk. Once-daily low-dose aspirin is the recommended antithrombotic regimen, but accelerated platelet generation may reduce the duration of platelet cyclooxygenase-1 (COX-1) inhibition. We performed a multicenter double-blind trial to investigate the efficacy of 3 aspirin regimens in optimizing platelet COX-1 inhibition while preserving COX-2-dependent vascular thromboresistance.

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Anemia is extremely common in hospitalized patients who are old and often with multiple diseases. We evaluated 435 consecutive patients admitted in the internal medicine department of a hub hospital and 191 (43.9%) of them were anemic.

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To present the clinical and laboratory implications of defects or variants of some clotting factors and of thrombomodulin that were discovered during the past few years.: Data concerning new aspects of FII, FV, FIX and thrombomodulin defects were investigated. This involved the dysprothrombinemias, the East Texas or short FV disorder, a FIX defect and a thrombomodulin abnormality.

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Article Synopsis
  • Myeloproliferative Neoplasms (MPN) can cause thrombosis, particularly in uncommon areas like splanchnic veins, complicating their management due to increased vascular risks.
  • A study including 518 MPN-SVT cases and a control group found that MPN-SVT patients tend to be younger, primarily female, with a high prevalence of the JAK2V617F mutation and a notable rate of hypercoagulable disorders.
  • Vitamin K-antagonists were effective in reducing thrombosis recurrence without significant bleeding risks, while esophageal varices were identified as a key risk factor for major bleeding, making them a focus for future treatments.
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Mastocytosis is a rare disease in which heightened amounts of mast cells accumulate in the skin, bone marrow, and other visceral organs. Upon activation, mast cells release a wide variety of preformed or newly synthesized mediators which can induce allergic symptoms and inflammatory reactions. Mastocytosis is diagnosed by biopsy and can be divided into cutaneous and systemic mastocytosis (SM).

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