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https://www.readbyqxmd.com/read/29143319/the-full-spectrum-of-castleman-disease-273-patients-studied-over-20%C3%A2-years
#1
Eric Oksenhendler, David Boutboul, David Fajgenbaum, Adrien Mirouse, Claire Fieschi, Marion Malphettes, Laetitia Vercellino, Véronique Meignin, Laurence Gérard, Lionel Galicier
The spectrum of Castleman disease (CD) has considerably extended since its first description in 1956. Recently, an international collaborative working group has reached consensus on the diagnostic criteria and classification of CD. We herein report 273 patients with lymph node histopathology consistent with CD and investigate the newly established diagnostic criteria. Twenty of these patients with Castleman-like histopathology were removed from analyses, because they were diagnosed with an exclusionary disorder (18 with haematological malignancy)...
November 16, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29141943/anemia-at-older-age-etiologies-clinical-implications-and-management
#2
Reinhard Stauder, Peter Valent, Igor Theurl
Anemia is quite frequently diagnosed in older individuals and is a key indicator of various reactive and clonal conditions. Many underlying diseases, like the myelodysplastic syndromes (MDS), develop preferentially in elderly individuals. The prevalence of anemia at older age is increasing, and this is mainly due to more frequently applied diagnostics and demographic changes in our societies. The etiology of anemia at older age is complex and ranges from bone marrow failure syndromes to chronic kidney disease, and from nutritional deficiencies to inflammatory processes including inflammaging in immunosenescence...
November 15, 2017: Blood
https://www.readbyqxmd.com/read/29129488/dna-hypomethylating-agents-as-epigenetic-therapy-before-and-after-allogeneic-hematopoietic-stem-cell-transplantation-in-myelodysplastic-syndromes-and-juvenile-myelomonocytic-leukemia
#3
REVIEW
Christian Flotho, Sebastian Sommer, Michael Lübbert
Myelodysplastic syndrome (MDS) is a clonal bone marrow disorder, typically of older adults, which is characterized by ineffective hematopoiesis, peripheral blood cytopenias and risk of progression to acute myeloid leukemia. Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative neoplasm occurring in young children. The common denominator of these malignant myeloid disorders is the limited benefit of conventional chemotherapy and a particular responsiveness to epigenetic therapy with the DNA-hypomethylating agents 5-azacytidine (azacitidine) or decitabine...
November 9, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/29123652/autoimmune-lymphoproliferative-syndrome-more-than-a-fascinating-disease
#4
REVIEW
Karen Bride, David Teachey
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, splenomegaly, and autoimmune pathology, most commonly, autoimmune cytopenias. Since ALPS was first characterized in the early 1990s, insights in disease biology have improved both diagnosis and management of this syndrome...
2017: F1000Research
https://www.readbyqxmd.com/read/29118268/azacitidine-in-lower-risk-myelodysplastic-syndromes-a-meta-analysis-of-data-from-prospective-studies
#5
Rami Komrokji, Arlene S Swern, David Grinblatt, Roger M Lyons, Magnus Tobiasson, Lewis R Silverman, Hamid Sayar, Ravi Vij, Albert Fliss, Nora Tu, Mary M Sugrue
BACKGROUND: After erythropoiesis-stimulating agent (ESA) failure, lenalidomide and hypomethylating agents are the only remaining treatment options for most patients with lower-risk myelodysplastic syndromes (LR-MDS). Optimal choice of these agents as front-line therapy in non-del(5q) LR-MDS is unclear. Because azacitidine clinical data mainly describe experience in higher-risk MDS, we performed a meta-analysis of patient-level data to evaluate azacitidine in patients with red blood cell (RBC) transfusion-dependent LR-MDS...
November 8, 2017: Oncologist
https://www.readbyqxmd.com/read/29116459/neonatal-systemic-lupus-erythematosus-syndrome-a-comprehensive-review
#6
REVIEW
Federica Vanoni, Sebastiano A G Lava, Emilio F Fossali, Riccardo Cavalli, Giacomo D Simonetti, Mario G Bianchetti, Marie-Ange Bozzini, Carlo Agostoni, Gregorio P Milani
Neonatal lupus erythematosus is an uncommon syndrome, which is caused by transplacental passage of maternal autoantibodies to Sjögren's syndrome A or B autoantigens. The clinical presentation includes distinctive cutaneous lesions resembling those seen in systemic lupus erythematosus, hepatobiliary disease, and cytopenias, which disappear with the clearance of maternal autoantibodies. The most severe presentation is a total atrioventricular heart block, which begins during the second trimester of gestation and is irreversible...
November 8, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29114388/epistatic-interactions-between-mutations-of-taci-tnfrsf13b-and-tcf3-result-in-a-severe-primary-immunodeficiency-disorder-and-systemic-lupus-erythematosus
#7
Rohan Ameratunga, Wikke Koopmans, See-Tarn Woon, Euphemia Leung, Klaus Lehnert, Charlotte A Slade, Jessica C Tempany, Anselm Enders, Richard Steele, Peter Browett, Philip D Hodgkin, Vanessa L Bryant
Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies where monogenetic causes account for only a fraction of cases. On this evidence, CVID is potentially polygenic and epistatic although there are, as yet, no examples to support this hypothesis. We have identified a non-consanguineous family, who carry the C104R (c.310T>C) mutation of the Transmembrane Activator Calcium-modulator and cyclophilin ligand Interactor (TACI, TNFRSF13B) gene. Variants in TNFRSF13B/TACI are identified in up to 10% of CVID patients, and are associated with, but not solely causative of CVID...
October 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/29113425/large-granular-lymphocytosis-after-transplantation
#8
REVIEW
Zhi-Yuan Qiu, Guang-Yu Tian, Zhao Zhang, Ye-Qing Zhang, Wei Xu, Jian-Yong Li
Post-transplant lymphoproliferative disorders (PTLD) represent a heterogeneous group of diseases that occur following transplantation. Large granular lymphocytic (LGL) lymphocytosis is one type of PTLD, ranging from reactive polyclonal self-limited expansion to oligo/monoclonal lymphocytosis or even to overt leukaemia. LGL lymphocytosis in transplant recipients may present as a relatively indolent version of the condition and may be more common than reported, but its natural history and clinical course have not been well described, and the lack of a reliable classification system has limited studies on this disease...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29111982/management-of-immune-mediated-cytopenias-in-the-era-of-cancer-immunotherapy-a-report-of-4-cases
#9
Yamin Sun, Stephen K Lee, Thein H Oo, Cristhiam M Rojas-Hernandez
Recent advancements in immunotherapy have brought promising drugs to fight cancers; a subset of immunotherapy medications are known as checkpoint inhibitors. Their mechanism of action relies on upregulating antitumor response by reversing T-cell suppression; as a consequence the effect can also result in a spectrum of immune related complications. Reported complications to date include: skin, gastrointestinal mucosa, hypophysis, liver, endocrine system, nervous system, kidney, musculoskeletal system and the hematologic system...
November 3, 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/29098608/novel-therapies-for-myelofibrosis
#10
REVIEW
Kristen Pettit, Olatoyosi Odenike
PURPOSE OF REVIEW: The purpose of the review was to provide a contemporary update of novel agents and targets under investigation in myelofibrosis in the Janus kinase (JAK) inhibitor era. RECENT FINDINGS: Myelofibrosis (MF) is a clonal stem cell disease characterized by marrow fibrosis and a heterogeneous disease phenotype with a variable degree of splenomegaly, cytopenias, and constitutional symptoms that significantly impact quality of life and survival. Overactive JAK/STAT signaling is a hallmark of MF...
November 2, 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/29096334/symptom-burden-profile-in-myelofibrosis-patients-with-thrombocytopenia-lessons-and-unmet-needs
#11
Allison H Scotch, Heidi Kosiorek, Robyn Scherber, Amylou C Dueck, Stefanie Slot, Sonja Zweegman, Peter A W Te Boekhorst, Suzan Commandeur, Harry Schouten, Federico Sackmann, Ana Kerguelen Fuentes, Dolores Hernández-Maraver, Heike L Pahl, Martin Griesshammer, Frank Stegelmann, Konstanze Döhner, Thomas Lehmann, Karin Bonatz, Andreas Reiter, Francoise Boyer, Gabriel Etienne, Jean-Christophe Ianotto, Dana Ranta, Lydia Roy, Jean-Yves Cahn, Claire N Harrison, Deepti Radia, Pablo Muxi, Norman Maldonado, Carlos Besses, Francisco Cervantes, Peter L Johansson, Tiziano Barbui, Giovanni Barosi, Alessandro M Vannucchi, Chiara Paoli, Francesco Passamonti, Bjorn Andreasson, Maria L Ferrari, Alessandro Rambaldi, Jan Samuelsson, Gunnar Birgegard, Zhijian Xiao, Zefeng Xu, Yue Zhang, Xiujuan Sun, Junqing Xu, Jean-Jacques Kiladjian, Peihong Zhang, Robert Peter Gale, Ruben A Mesa, Holly L Geyer
Myelofibrosis is a myeloproliferative neoplasm associated with progressive cytopenias and high symptom burden. MF patients with thrombocytopenia have poor prognosis but the presence of thrombocytopenia frequently precludes the use of JAK2 inhibitors. In this study, we assessed quality of life and symptom burden in 418 MF patients with (n=89) and without (n=329) thrombocytopenia using prospective data from the MPN-QOL study group database, including the Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF) and Total Symptom Score (MPN10)...
October 14, 2017: Leukemia Research
https://www.readbyqxmd.com/read/29093395/near-tetraploidy-acute-myeloid-leukemia-in-long-term-remission-with-persistent-clonal-hematopoiesis-with-del-20-q12q13
#12
Tohru Takahashi, Kazuya Ishiguro, Yumiko Maruyama, Tomoe Kazama, Takenori Takamura, Hideto Itoh, Mitsuru Yoshimoto, Masayuki Tsujisaki, Go Ohba
Patients with near tetraploidy/tetraploidy (NT/T)-acute myeloid leukemia (AML) are rare and generally show poor survival. A 62-year-old man was referred to our hospital with pancytopenia. A bone marrow examination revealed the proliferation of extremely large blasts, and led to the diagnosis of AML M0. A cytogenetic analysis showed an NT-karyotype of 91, XXYY, -5, add(18)(p21),del(20)(q12q13) ×2. Complete remission was achieved with single remission induction chemotherapy. Although consolidation chemotherapies were not available because of his critical condition, he remained in remission and survived for more than 40 months without cytopenia...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29090526/a-pediatric-brain-tumor-consortium-phase-ii-trial-of-capecitabine-rapidly-disintegrating-tablets-with-concomitant-radiation-therapy-in-children-with-newly-diagnosed-diffuse-intrinsic-pontine-gliomas
#13
Lindsay B Kilburn, Mehmet Kocak, Patricia Baxter, Tina Young Poussaint, Arnold C Paulino, Christine McIntyre, Annabelle Lemenuel-Diot, Christine Lopez-Diaz, Larry Kun, Murali Chintagumpala, Jack M Su, Alberto Broniscer, Justin N Baker, Eugene I Hwang, Maryam Fouladi, James M Boyett, Susan M Blaney
BACKGROUND: We conducted a phase II study of oral capecitabine rapidly disintegrating tablets given concurrently with radiation therapy (RT) to assess progression-free survival (PFS) in children with newly diagnosed diffuse intrinsic pontine gliomas (DIPG). PATIENTS AND METHODS: Children 3-17 years with newly diagnosed DIPG were eligible. Capecitabine, 650 mg/m(2) /dose BID (maximum tolerated dose [MTD] in children with concurrent radiation), was administered for 9 weeks starting the first day of RT...
November 1, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29089774/adult-acute-megakaryoblastic-leukemia-rare-association-with-cytopenias-of-undetermined-significance-and-p210-and-p190-bcr-abl-transcripts
#14
Delia Dima, Liana Oprita, Ana-Maria Rosu, Adrian Trifa, Cristina Selicean, Vlad Moisoiu, Ioana Frinc, Mihnea Zdrenghea, Ciprian Tomuleasa
Acute megakaryocytic leukemia (M7-AML) is a rare form of acute myeloid leukemia (AML), which is associated with poor prognosis. The case presented in the current report is a statement for the difficult diagnosis and clinical management of M7-AML in the context of a previous hematologic disorder of undetermined significance and associated genetic abnormalities. Probably, following the complete hematologic remission and further with induction chemotherapy plus tyrosine kinase inhibitor therapy, the clinical management of this case will be followed by a allogeneic bone marrow transplantation, the only proven therapy to improve overall survival...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29080979/autoimmune-cytopenias-and-associated-conditions-in-cvid-a-report-from-the-usidnet-registry
#15
Elizabeth J Feuille, Niloofar Anooshiravani, Kathleen E Sullivan, Ramsay L Fuleihan, Charlotte Cunningham-Rundles
PURPOSE: Autoimmune cytopenia is frequently a presenting manifestation of common variable immune deficiency (CVID). Studies characterizing the CVID phenotype associated with autoimmune cytopenias have mostly been limited to large referral centers. Here, we report prevalence of autoimmune cytopenias in CVID from the USIDNET Registry and compare the demographics and clinical features of patients with and without this complication. METHODS: Investigators obtained demographic, laboratory, and clinical data on CVID patients within the USIDNET Registry...
October 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29079134/impact-of-chromosome-alterations-genetic-mutations-and-clonal-hematopoiesis-of-indeterminate-potential-chip-on-the-classification-and-risk-stratification-of-mds
#16
REVIEW
Bani Bandana Ganguly, Debasis Banerjee, Mohan B Agarwal
The advent of technological development has undoubtedly advanced biological and molecular inputs for better understanding the heterogeneous hematopoietic pre-malignant disorder of the stem cells known as myelodysplastic syndromes (MDS). Chromosomal rearrangements, including del(3q/5q/7q/11q/12p/20q), loss of 5/7/Y, trisomy 8/19, i(17q), etc. frequently detected in MDS with variable frequencies and combinations, are the integral components of the 5-tier risk-stratification and WHO-2016 classification. Observations on mutations in genes involved in RNA-splicing, DNA methylation, chromatin modification, transcription factor, signal transduction/kinases, RAS pathway, cohesin complex, DNA repair and other pathways have given insights in independent effects and biological interaction of co-occurrence on disease-phenotype and treatment outcome...
October 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29076903/imaging-characteristics-of-chemotherapy-related-adult-onset-still-disease
#17
Yang Lu, Beth A Chasen, Homer A Macapinlac
A 60-year-old man with lymphoma completed chemotherapy on October 21, 2016, with complete remission. He then received rituximab maintenance therapy. Since March 2017, he has had progressive fatigue, myalgias, rash, weight loss, diarrhea, and recurrent low-grade fever. Subsequent bone marrow biopsy and FDG PET/CT demonstrated no active lymphoma. An In-white blood cell scan showed abnormal tracer uptake on 20-hour postinjection, but not on 3-hour postinjection images, including innumerable skeleton muscle foci, multiple cutaneous foci, and persistent diffuse increased uptake in the lungs...
December 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29076030/the-absolute-volume-of-pet-defined-active-bone-marrow-spared-predicts-for-high-grade-hematologic-toxicity-in-cervical-cancer-patients-undergoing-chemoradiation
#18
Y M Zhou, C Freese, T Meier, D Go, K Khullar, M Sudhoff, M Lamba, J Kharofa
INTRODUCTION: Hematologic toxicity (HT) in cervical cancer patients can cause treatment delays and reduction in chemotherapy, especially in high risk patients. Dose to PET-defined regions of active bone marrow (ABM) has been shown to correlate with cytopenias. An absolute volume of ABM spared may accurately represent hematopoietic reserve and risk of HT. This analysis evaluates whether the volume of ABM spared can more accurately predict HT compared to conventional dosimetric parameters...
October 26, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29075543/undetected-severe-fetal-myelosuppression-following-administration-of-high-dose-cytarabine-for-acute-myeloid-leukemia-is-more-frequent-surveillance-necessary
#19
Jessica Parrott, Marium Holland
BACKGROUND: Cytarabine use during pregnancy carries a 5-7% risk of neonatal cytopenia. We report two cases of fetal myelosuppression following high-dose cytarabine administration for acute myeloid leukemia (AML). CASE 1: A 36-year-old G9P6 diagnosed with AML at 21 weeks was monitored for fetal anemia weekly and growth monthly. At 33 weeks (after 2 cycles), BPP was 2/10 and MCA PSV was elevated at 1.51 MoM. Urgent cesarean section was performed. The infant had an initial pH of 6...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29073495/what-s-up-in-the-alps
#20
REVIEW
Frédéric Rieux-Laucat
The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. This clinical entity was recognized in the mid 60s and its genetic etiology was described in 1995 by the discovery of the FAS gene mutations. This was the first description of a monogenic cause of autoimmunity but its non-Mendelian expression remained elusive until the description of somatic and germline mutations in ALPS patients. The related apoptosis defect accounts for the accumulation of autoreactive lymphocytes as well as for specific clinical and biological features that distinguish the ALPS-FAS from other monogenic causes of ALPS such as somatic mutations of RAS or the recently described CTLA-4 insufficiency...
October 23, 2017: Current Opinion in Immunology
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