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Myeloproliferative disorder

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https://www.readbyqxmd.com/read/29902552/exploring-the-major-cross-talking-edges-of-competitive-endogenous-rna-networks-in-human-chronic-and-acute-myeloid-leukemia
#1
Kamalika Sen, Dhananjay Bhattacharyya, Arijita Sarkar, Jyotirmoy Das, Nilanjana Maji, Moitri Basu, Zhumur Ghosh, Tapash Chandra Ghosh
BACKGROUND: Human Chronic and Acute Myeloid Leukemia are myeloproliferative disorders in myeloid lineage of blood cells characterized by accumulation of aberrant white blood cells. In cancer, the anomalous transcriptome includes deregulated expression of non-coding RNAs in conjunction with protein-coding mRNAs in human genome. The coding or non-coding RNA transcripts harboring miRNA-binding sites can converse with and regulate each other by explicitly contending for a limited pool of shared miRNAs and act as competitive endogenous RNAs (ceRNAs)...
June 11, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29899671/hydroxyurea-induced-pneumopathy-in-a-patient-with-myeloproliferative-syndrome
#2
Oriol Plans Galván, Hipólito Pérez Moltó, Ariadna Fabià-Mayans, Blanca Xicoy, José Luis Mate, Pilar Ricart Martí
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.
2018: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/29889100/jak-inhibitors-in-autoinflammation
#3
Hal M Hoffman, Lori Broderick
Interferonopathies are a subset of autoinflammatory disorders with a prominent type I IFN gene signature. Treatment of these patients has been challenging, given the lack of response to common autoinflammatory therapeutics including IL-1 and TNF blockade. JAK inhibitors (Jakinibs) are a family of small-molecule inhibitors that target the JAK/STAT signaling pathway and have shown clinical efficacy, with FDA and European Medicines Agency (EMA) approval for arthritic and myeloproliferative syndromes. Sanchez and colleagues repurposed baricitinib to establish a significant role for JAK inhibition as a novel therapy for patients with interferonopathies, demonstrating the power of translational rare disease research with lifesaving effects...
June 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29878489/chronic-myelomonocytic-leukemia-2018-update-on-diagnosis-risk-stratification-and-management
#4
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder with overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms, with an inherent risk for leukemic transformation (∼15%-20% over 3-5 years). DIAGNOSIS: Diagnosis is based on the presence of sustained (>3 months) peripheral blood monocytosis (≥1 × 109 /L; monocytes ≥10%), along with bone marrow dysplasia. Clonal cytogenetic abnormalities occur in ∼ 30% of patients, while >90% have gene mutations...
June 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29867515/npv-bsk805-an-antineoplastic-jak2-inhibitor-effective-in-myeloproliferative-disorders-causes-adiposity-in-mice-by-interfering-with-the-action-of-leptin
#5
Magalie Haissaguerre, Amandine Ferriere, Samantha Clark, Omar Guzman-Quevedo, Antoine Tabarin, Daniela Cota
The pathophysiology of body weight gain that is observed in patients suffering from myeloproliferative neoplasms treated with inhibitors of the janus kinase (Jak) 1 and 2 pathway remains unknown. Here we hypothesized that this class of drugs interferes with the metabolic actions of leptin, as this hormone requires functional Jak2 signaling. To test this, C57BL/6J chow-fed mice received either chronic intraperitoneal (ip) or repeated intracerebroventricular (icv) administration of the selective Jak2 inhibitor NVP-BSK805, which was proven efficacious in treating polycythemia in rodents...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29848520/myeloid-sarcoma-of-the-small-intestine-in-a-patient-without-overt-acute-myeloid-leukaemia-a-challenging-diagnosis-of-a-rare-condition
#6
Rodrigo Athayde Nemésio, Beatriz Costa, Carlos Abrantes, Júlio Soares Leite
Myeloid sarcoma (MS) is a rare condition that most commonly occurs in the setting of acute myeloidleukaemia (AML) or other chronic myeloproliferative disorders. It presents as an abnormal growth that can develop anywhere in the human body, and its clinical manifestations are often non-specific.We present the case of a patient admitted to the emergency room with bowel obstruction. After careful clinical assessment, she underwent a right hemicolectomy. After a thorough examination of the surgical pathology specimen, including testing a wide array of immunohistochemical markers, the patient was timely diagnosed with MS, allowing for the implementation of the appropriate treatment to achieve complete remission...
May 30, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29803757/the-epidemiology-of-budd-chiari-syndrome-in-france
#7
Isabelle Ollivier-Hourmand, Manon Allaire, Nathalie Goutte, Rémy Morello, Carine Chagneau-Derrode, Odile Goria, Jerôme Dumortier, Jean Paul Cervoni, Sébastien Dharancy, Nathalie Ganne-Carrié, Christophe Bureau, Nicolas Carbonell, Armand Abergel, Jean Baptiste Nousbaum, Rodolphe Anty, Hélène Barraud, Marie Pierre Ripault, Victor De Ledinghen, Anne Minello, Frédéric Oberti, Sylvie Radenne, Noelle Bendersky, Olivier Farges, Isabelle Archambeaud, Anne Guillygomarc'h, Marie Ecochard, Violaine Ozenne, Marie Noelle Hilleret, Eric Nguyen-Khac, Barbara Dauvois, Jean Marc Perarnau, Pascale Lefilliatre, Jean Jacques Raabe, Michel Doffoel, Jean Philippe Becquart, Eric Saillard, Dominique Valla, Thong Dao, Aurélie Plessier
INTRODUCTION: Epidemiological data is lacking on primary Budd-Chiari syndrome (BCS) in France. METHODS: Two approaches were used: (1) A nationwide survey in specialized liver units for French adults. (2) A query of the French database of discharge diagnoses screening to identify incident cases in adults. BCS associated with cancer, alcoholic/viral cirrhosis, or occurring after liver transplantation were classified as secondary. RESULTS: Approach (1) 178 primary BCS were identified (prevalence 4...
April 12, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29790256/platelet-characteristics-in-patients-with-essential-thrombocytosis
#8
Oliver Heidmann Pedersen, Mads Lamm Larsen, Erik Lerkevang Grove, Peter Buur van Kooten Niekerk, Søren Bønløkke, Peter H Nissen, Steen Dalby Kristensen, Anne-Mette Hvas
BACKGROUND: Essential thrombocytosis (ET) is a myeloproliferative disorder characterized by an increased platelet count. ET is associated with an increased risk of thrombosis, and procoagulant features of the disease may include an increased number of reactive reticulated platelets and an increased aggregation potential. We aimed to explore the association between platelet count, platelet turnover and platelet aggregation in patients with ET. METHODS: We included 24 ET patients who discontinued antiplatelet therapy prior to blood sampling...
May 23, 2018: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/29774106/hematopoietic-restricted-ptpn11e76k-reveals-indolent-mpn-progression-in-mice
#9
Stefan P Tarnawsky, Wen-Mei Yu, Cheng-Kui Qu, Rebecca J Chan, Mervin C Yoder
Juvenile Myelomonocytic Leukemia (JMML) is a pediatric myeloproliferative neoplasm (MPN) that has a poor prognosis. Somatic mutations in Ptpn11 are the most frequent cause of JMML and they commonly occur in utero . Animal models of mutant Ptpn11 have probed the signaling pathways that contribute to JMML. However, existing models may inappropriately exacerbate MPN features by relying on non-hematopoietic-restricted Cre-loxP strains or transplantations into irradiated recipients. In this study we generate hematopoietic-restricted models of Ptpn11E76K-mediated disease using Csf1r-MCM and Flt3Cre...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29773831/dnajc17-is-localized-in-nuclear-speckles-and-interacts-with-splicing-machinery-components
#10
A Pascarella, G Ferrandino, S C Credendino, C Moccia, F D'Angelo, B Miranda, C D'Ambrosio, P Bielli, O Spadaro, M Ceccarelli, A Scaloni, C Sette, M De Felice, G De Vita, E Amendola
DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, while heterozygous mutations represent candidate pathogenic events for myeloproliferative disorders. Despite widespread expression and involvement in human diseases, DNAJC17 function is still poorly understood. Herein, we have investigated its function through high-throughput transcriptomic and proteomic approaches...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29749755/t784c-lnk-gene-polymorphism-and-the-risk-of-myeloproliferative-disorders
#11
Igor A Olkhovskiy, Aleksey S Gorbenko, Marina A Stolyar, Evgeniy V Vasiliev, Mikhail A Mikhalev, Kseniya A Tabakova
No abstract text is available yet for this article.
May 11, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29745886/primary-myelofibrosis-but-not-autoimmune-myelofibrosis-accompanied-by-sj%C3%A3-gren-s-syndrome-and-primary-biliary-cirrhosis-in-a-patient-with-trisomy-8-mosaic-a-case-report-and-literature-review
#12
Chenyang Lu, Xiaoyan Wu, Hongyan Wen, Huiying Gao, Caihong Wang, Bo Yang, Zhipeng Liang, Chong Gao, Xiaofeng Li
Bone marrow fibrosis has been found to be associated with autoimmune disorders, and autoimmune myelofibrosis (AIMF) has been defined. Primary myelofibrosis (PMF), a clonal myeloproliferative disorder, should be distinguished from AIMF which has a good response to steroids, as the former has a high mortality and very bad response to conventional treatment. This case report describes a rare case of PMF accompanied with Sjögren's syndrome (SJS) and primary biliary cirrhosis (PBC), in a patient with trisomy 8 mosaic...
May 10, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29741513/myelofibrosis-clinicopathologic-features-prognosis-and-management
#13
Jennifer M O'Sullivan, Claire N Harrison
Myelofibrosis is one of the BCR-ABL-negative clonal disorders that collectively are known as myeloproliferative neoplasms (MPNs). It is caused by the proliferation of clonal hematopoietic stem cells, which over time leads to characteristic clinical features. The disease presentation is heterogeneous, however, with 30% of patients initially asymptomatic. This variation in clinical phenotype warrants careful risk stratification to guide appropriate management, and prognostic risk scores are continually being refined...
February 2018: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/29730367/peripheral-artery-disease-associated-with-myeloproliferative-disorders
#14
Shoko Nakagawa, Osami Kawarada, Takeshi Yagyu, Jiro Matsuo, Yosuke Inoue, Teruo Noguchi, Satoshi Yasuda
No abstract text is available yet for this article.
April 27, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29724146/chronic-myeloproliferative-disorders-is-quality-of-life-the-new-goal
#15
Elisabetta Abruzzese, Pasquale Niscola, Malgorzata Monika Trawinska, Paolo de Fabritiis
No abstract text is available yet for this article.
May 3, 2018: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29705369/essential-thrombocythemia-and-cardiac-surgery-a-case-series-and-review-of-the-literature
#16
Carmelina Gurrieri, Bradford B Smith, Gregory A Nuttall, Rajiv K Pruthi, Sameh M Said, Mark M Smith
BACKGROUND: Essential thrombocythemia (ET) is a rare myeloproliferative disorder characterized by an unexplained thrombocytosis (>450 x109 /L) and associated vasomotor, thrombotic and hemorrhagic manifestations. While the literature detailing the perioperative management of patients with ET undergoing cardiac surgery is sparse, major perioperative complications have been reported, particularly in poorly controlled patients presenting with platelet counts ≥800 x 109 /L. The purpose of this study was to provide the experience at a large tertiary medical center in managing patients with ET undergoing cardiac surgery, and to summarize the available literature...
April 26, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29686565/chronic-neutrophilic-leukemia
#17
Arthur Bredeweg, Micah Burch, John R Krause
Chronic neutrophilic leukemia is a rare myeloproliferative disorder characterized by a sustained peripheral blood neutrophilia, absence of the BCR/ABL oncoprotein, bone marrow hypercellularity with less than 5% myeloblasts and normal neutrophil maturation, and no dysplasia. This leukemia has been associated with mutations in the colony-stimulating factor 3 receptor (CSF3R) that may activate this receptor, leading to the proliferation of neutrophils that are the hallmark of chronic neutrophilic leukemia. We present a case of chronic neutrophilic leukemia and discuss the criteria for diagnosis and the significance of mutations found in this leukemia...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29684340/myeloid-sarcoma-with-megakaryoblastic-differentiation-presenting-as-a-breast-mass
#18
Ifeyinwa E Obiorah, Metin Ozdemirli
Myeloid sarcoma is an extramedullary tumor that consists of myeloblasts or immature myeloid cells. The neoplasm can occur in any part of the body, including the bone, periosteum, lymph nodes, skin, and soft tissue and they may occur de novo or in association with acute myeloid leukemia, myeloproliferative neoplasms and myelodysplastic syndromes. Most cases display a myelomonocytic or pure monoblastic morphology. Tumors with megakaryoblastic differentiation are extremely uncommon and may occur in association with transformation of a myeloproliferative disorder...
April 17, 2018: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/29683036/assessment-of-endothelial-dysfunction-with-flow-mediated-dilatation-in-myeloproliferative-disorders
#19
Abdulkerim Yildiz, Melike Güryildirim, Mehmet Sezgin Pepeler, Merve Yazol, Suna Özhan Oktar, Kadir Acar
BACKGROUND: Thrombosis is the most important cardiovascular complication of classical myeloproliferative disorders (MPDs). Endothelial dysfunction (ED) is known to play a major role in the mechanism of thrombophilia in MPDs. METHODS: Endothelial dysfunction and its associations with other parameters were investigated. A total of 18 patients with polycythemia vera (PV), 24 with essential thrombocytosis (ET), 7 with primary myelofibrosis (PMF), and 30 healthy patients as a control group were included in the study...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29676020/chronic-neutrophilic-leukemia-an-extremely-rare-cause-of-neutrophilia-in-childhood-cure-with-hematopoietic-stem-cell-transplantation
#20
Vedat Uygun, Hayriye Daloğlu, Seda Öztürkmen, Gülsün Karasu, Zekai Avcı, Akif Yeşilipek
CNL is a rare myeloproliferative disorder frequently seen in older adults. A significant proportion of patients show progression to AML. Here, we report the case of a patient with FA who was monitored for leukopenia but who developed leukocytosis during the follow-up and was diagnosed with CNL probably after an acquired CSF3R mutation. Because the patient had FA, which could accelerate the progression to AML, an HSCT was performed, which resulted in cure. This patient (aged 12 years) is one of the youngest patients reported to develop CNL as well as the first FA patient with a diagnosis of CNL...
April 19, 2018: Pediatric Transplantation
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