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https://www.readbyqxmd.com/read/29785311/acute-lymphoblastic-leukemia-following-lenalidomide-maintenance-for-multiple-myeloma-two-cases-with-unexpected-presentation-and-good-prognostic-features
#1
Abdullah M Khan, Jameel Muzaffar, Hermant Murthy, John R Wingard, Jan S Moreb
Lenalidomide maintenance following autologous stem cell transplant (ASCT) is considered the standard of care for eligible patients with multiple myeloma (MM). A recent meta-analysis has provided additional evidence that lenalidomide maintenance is associated with a higher incidence of second primary malignancies, including both hematologic and solid malignancies. Acute lymphoblastic leukemia (ALL) as a second primary malignancy is rarely described in the literature. Herein, we describe two patients with MM treated with induction therapy, ASCT, and lenalidomide maintenance that experienced cytopenias while on maintenance...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29785143/pilot-study-of-the-antifibrotic-effects-of-the-multikinase-inhibitor-pacritinib-in-a-mouse-model-of-liver-fibrosis
#2
Suliman Al-Fayoumi, Taishi Hashiguchi, Yuka Shirakata, John Mascarenhas, Jack W Singer
Background: Fibrotic diseases result from an exuberant response to chronic inflammation. Myelofibrosis is the end result of inflammation in bone, caused by an inflammatory process triggered by production of abnormal myeloid cells driven by mutations affecting the JAK-STAT pathway. Inflammatory cytokine overproduction leads to increased mesenchymal cell proliferation, culminating in fibrosis. Although JAK2 inhibitors, such as the JAK1/2 inhibitor ruxolitinib and the JAK2/FLT3/CSF1R/IRAK1 inhibitor pacritinib suppress abnormal clone expansion in myelofibrosis, ruxolitinib does not appear to prevent or reverse bone-marrow fibrosis in most patients...
2018: Journal of Experimental Pharmacology
https://www.readbyqxmd.com/read/29783935/identification-of-a-novel-nonsense-mutation-in-the-unc13d-gene-from-a-patient-with-hemophagocytic-lymphohistiocytosis-a-case-report
#3
Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2. CASE PRESENTATION: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. The patient, who presented typical symptoms, was diagnosed with HLH based on HLH-2004 guidelines...
May 21, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29781346/distribution-characteristics-of-cells-in-splenomegaly-due-to-hepatitis-b-related-cirrhotic-portal-hypertension-and-their-clinical-importance
#4
Xiaoyu Han, Yunfu Lv, Yejuan Li, Jie Deng, Qingan Qiu, Ning Liu, Shuya Zhao, Caixian Liao
Objectives To investigate peripheral cytopenia in patients with splenomegaly due to hepatitis B-related cirrhotic portal hypertension (HBRCPH) by comparing blood cell counts from enlarged spleens with peripheral blood. Methods This prospective study involved patients undergoing splenectomy at the Nangfang Hospital from June 2013 to December 2015. Blood cell counts from peripheral blood were compared with those from splenic blood taken during splenectomies. Results Clinical data were available from 30 patients...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29779353/-using-target-next-generation-sequencing-assay-in-diagnosing-of-46-patients-with-suspected-congenital-anemias
#5
Y Li, G X Peng, Q Y Gao, Y Li, L Ye, J P Li, L Song, H H Fan, Y Yang, Y Z Xiong, Z J Wu, W R Yang, K Zhou, X Zhao, L P Jing, F K Zhang, L Zhang
Objective: To evaluate the impact of the targeted next-generation sequencing (NGS) assay for difficult congenital anemias. Methods: Blood Disease Hospital Anemia Panel 2014 (BDHAP-2014) including 217 known genes of congenital anemias was developed. NGS and parental verification were performed for patients who were suspected diagnosed with congenital anaemia from August 2014 to July 2017. Results: A total of 46 patients were enrolled in this study, the clinical suspection were 11 cases Fanconi anemia (FA), 8 cases congenital dyserythropoietic anemia (CDA), 6 cases congenital sideroblast anemia (CSA), 12 cases congenital hemolytic anemia (CHA), 1 case dyskeratosis congenital (DC), 4 cases iron-refractory iron deficiency anemia and 4 cases unexplained cytopenia (Uc), respectively...
May 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29775768/canine-pet-dog-tumor-microsurgery-and-intratumoral-concentration-and-safety-of-metronomic-chlorambucil-for-spontaneous-glioma-a-phase-i-clinical-trial
#6
R Timothy Bentley, Stephanie A Thomovsky, Margaret A Miller, Deborah W Knapp, Aaron A Cohen-Gadol
INTRODUCTION: Metronomic (daily low-dose) chlorambucil requires further study before implementation in human glioma. OBJECTIVE: Investigate the distribution and safety of metronomic chlorambucil in naturally occurring canine glioma. METHODS: Eight client-owned (pet) dogs with newly diagnosed spontaneous glioma were prospectively enrolled. Chlorambucil was administered preoperatively at 4 mg/m2 q 24hr for ≥ 3 days, and continued postoperatively until death or dose-limiting adverse events...
May 15, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29773429/real-life-experience-with-ponatinib-in-chronic-myeloid-leukemia-a-multicenter-observational-study
#7
Adi Shacham-Abulafia, Pia Raanani, David Lavie, Yulia Volchek, Ron Ram, Ilana Helman, Liat Shargian, Anna Gourevitch, Evgeni Chubar, Roy Ratzon, Uri Rozovski
BACKGROUND: The strict recruitment criteria of patients for clinical trials often lead to reduced generalizability of the findings. We studied how ponatinib is used outside clinical trials in patients with chronic myeloid leukemia (CML). PATIENTS AND METHODS: The present retrospective study included all patients with a diagnosis of CML who had received ponatinib in 7 medical centers in Israel. RESULTS: From 2011 to 2016, we identified 37 patients with CML who had received ponatinib, 21 in the chronic phase and 16 in the advanced phase...
May 7, 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29766398/hepatosplenic-t-cell-lymphoma-a-unifying-entity-in-a-patient-with-hemolytic-anemia-massive-splenomegaly-and-liver-dysfunction
#8
Marianna Mavilia, Agnes McAuliffe, Safina Hafeez, Haleh Vaziri
Hepatosplenic T cell lymphoma (HSTCL) is a rare subtype of peripheral non-Hodgkin lymphoma, of which 20% of cases are associated with chronic immunosuppression. It often occurs in patients with inflammatory bowel disease treated with immunomodulating medications such a thiopurines or TNF-alpha inhibitors. Cytopenias are commonly seen but autoimmune hemolytic anemia (AIHA) is rare. Here we present a young male with longstanding ulcerative colitis on chronic azathioprine, exhibiting several rare features of HSTCL...
May 15, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29759049/klinefelter-s-syndrome-with-lupus-encephalitis-and-retroperitoneal-teratoma
#9
C Ng Wq, S E Eide, Huang J, Khor Ym
We report a case of a middle-aged male who presented with pyrexia of unknown origin, oral ulcers, rash and bicytopenia. His past medical history included unexplained proteinuria, infertility and joint pain. Initial workup showed a large retroperitoneal soft tissue mass, which has appeared stable for 10 years. He subsequently developed neuropsychiatric symptoms with imaging findings of meningoencephalitis. Concurrent investigations showed elevated ANA, anti-double-stranded DNA (dsDNA) and ESR levels, as well as low complement levels...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29749364/cytopenia-in-adult-brucellosis-patients
#10
Safak Kaya, Nazif Elaldi, Ozcan Deveci, Ahmet Emre Eskazan, Muhammed Bekcibasi, Salih Hosoglu
Background & objectives: Brucellosis can lead to haematological abnormalities including cytopenia confusing with haematological malignancies. The aim of this study was to compare the main characteristics of brucellosis patients without cytopenia (Group 1) and with cytopenia (Group 2). Methods: This five-year period study which was performed in two referral hospitals in Turkey, included all adult brucellosis patients. Abnormally, low counts of leucocyte or haemoglobin or platelets in a patient were considered as cytopenia...
January 2018: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29746438/hemophagocytic-lymphohistiocytosis-associated-with-visceral-leishmaniasis
#11
Nihal Özdemir, Başak Koç, Esra Arslantaş, Işik Odaman Al, Çiğdem Kelleci, Ezgi Pasli Uysalol, Cengiz Bayram, Ali Ayçiçek
This is the report of a 2-year-old boy who presented with fever, cytopenia, and splenomegaly. The patient was diagnosed with hemophagocytic lymphohistiocytosis (HLH) and treated with HLH-2004 protocol. Repeated bone marrow aspiration showed amastigotes on follow-up. In endemic countries, visceral leishmaniasis should be considered in the differential diagnosis to avoid chemotherapy toxicity.
May 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29746437/hematologic-findings-of-inherited-metabolic-disease-they-are-more-than-expected
#12
Ertan Sal, Idil Yenicesu, Ilyas Okur, Zuhre Kaya, Fatih S Ezgu, Ulker Kocak, Leyla Tumer, Turkiz Gursel, Alev Hasanoglu
Inherited metabolic diseases are pathologic conditions that generally develop as a result of impairment of the production or breakdown of protein, carbohydrate, and fatty acids. Early determination of hematological findings has a positive effect on the prognosis of metabolic diseases. Three hundred eighteen patients who were being followed-up within the previous 6 months at Department of Pediatric Nutrition and Metabolism, Gazi University, Turkey, were included in the study. The hematological findings were classified under 7 main groups: anemia of chronic disease, iron deficiency anemia, vitamin B12 deficiency anemia, hemophagocytosis, leukocytosis, and thrombocytosis...
May 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29743397/-transplantation-associated-thrombotic-microangiopathy-confirmed-by-renal-biopsy
#13
Satoshi Miyamoto, Shunsuke Kimura, Yosuke Hosoya, Daisuke Hasegawa, Hisashi Ishida, Atsuro Daida, Toshihiro Matsui, Yuri Yoshimoto, Shinsuke Hirabayashi, Takuya Fujimaru, Tadashi Kumamoto, Shin-Ichiro Mori, Koyu Suzuki, Atsushi Manabe
An eight-year-old girl with myelodysplastic syndrome (refractory cytopenia) received a bone marrow transplant (BMT) from an unrelated donor because of immunosuppressive therapy failure. Following administration of foscarnet for cytomegalovirus reactivation at day40 post-BMT, serum creatinine increased, and proteinuria, hematuria, and hypertension gradually exacerbated and became prolonged. However, neither schistocytosis nor other organ damage was evident. At six months post-BMT, renal biopsy revealed diffuse glomerular damage with glomerular lobulation, a double contour of the glomerular basement membrane, erythrocyte congestion and thrombi in the glomerular endocapillaries, and mesangiolysis, confirming the diagnosis of transplantation-associated thrombotic microangiopathy (TA-TMA)...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29742693/a-successful-treatment-of-severe-systemic-lupus-erythematosus-caused-by-occult-pulmonary-infection-associated-with-hemophagocytic-syndrome-a-case-report
#14
Weihong Shi, Mingyang Duan, Ligang Jie, Weifeng Sun
RATIONALE: A 27-year-old woman with a history of systemic lupus erythaematosus (SLE) developed hemophagocytic syndrome (HPS) secondary due to an unrecognized infection that led to severe SLE with a prolonged recovery. PATIENT CONCERNS: The patient showed a high spiking fever and myalgia. Laboratory data revealed pancytopenia and immunological abnormalities. Pulse methylprednisone plus intravenous immunoglobulin (IVIG) failed to improve the clinical symptoms and laboratory data...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29742289/the-genetic-and-molecular-pathogenesis-of-myelodysplastic-syndromes
#15
REVIEW
Rory M Shallis, Rami Ahmad, Amer M Zeidan
Myelodysplastic syndromes (MDS) comprise a diverse group of clonal and malignant myeloid disorders characterized by ineffective hematopoiesis, resultant peripheral cytopenias, and a meaningful increased risk of progression to acute myeloid leukemia. A wide array of recurring genetic mutations involved in RNA splicing, histone manipulation, DNA methylation, transcription factors, kinase signaling, DNA repair, cohesin proteins, and other signal transduction elements have been identified as important substrates for the development of MDS...
May 9, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29741506/recent-advances-in-the-cellular-and-molecular-understanding-of-myelodysplastic-syndromes-implications-for-new-therapeutic-approaches
#16
Andrew M Brunner, David P Steensma
It has been more than 10 years since any new disease-modifying therapies have received regulatory approval for indications related to myelodysplastic syndromes (MDS). Advances in our collective biological understanding of MDS in the last decade, however, have made it possible to hope that effective therapeutics can be designed to improve MDS-associated cytopenias and patients' quality of life, and perhaps even delay clonal progression and extend survival. Classes of MDS-associated mutations and disordered biological pathways targeted by developmental therapeutics include the following: aberrant messenger RNA splicing, neomorphic enzymes in the citric acid cycle with oncogenic activity, overactivated tyrosine and serine-threonine kinases, epigenetic and chromatin remodeling alterations, abnormal telomere dynamics, and failed protection of DNA integrity...
January 2018: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/29732477/effectiveness-of-rituximab-containing-treatment-regimens-in-idiopathic-multicentric-castleman-disease
#17
Yujun Dong, Lu Zhang, Lin Nong, Lihong Wang, Zeyin Liang, Daobin Zhou, David C Fajgenbaum, Hanyun Ren, Jian Li
Human herpes virus type 8 (HHV-8)-negative, idiopathic multicentric Castleman disease (iMCD) is a rare lymphoproliferative disease often involving constitutional symptoms, cytopenias, and multiple organ system dysfunction. In China, the majority of MCD cases are HHV-8 negative. Given that siltuximab, the only FDA-approved treatment for iMCD is not available in China; rituximab- and cyclophosphamide-containing regimens are often used in the treatment of Chinese iMCD patients. To evaluate the efficacy of rituximab in this rare and heterogeneous disease, clinical and pathological data from 27 cases of iMCD were retrospectively analyzed from two large medical centers in China...
May 7, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29731799/beware-of-bone-marrow-incidental-detection-and-primary-diagnosis-of-solid-tumours-in-bone-marrow-aspiration-and-biopsies-a-study-of-22-cases
#18
Ruchita Tyagi, Aminder Singh, Bhavna Garg, Neena Sood
Background & objective: Introduction: First detection of any solid tumour as metastatic deposits in bone marrow directs clinicians to start searching for the primary tumour. Detection of bone marrow metastasis determines the stage of the malignancy, prognosis, mode of treatment, chemotherapeutic response and follow-up in case of relapse. The aim of the current study was to analyse the clinico-haematological presentation and morphological pattern of infiltration of solid tumours detected first as metastatic deposits on bone marrow examination...
2018: Iranian Journal of Pathology
https://www.readbyqxmd.com/read/29729943/phenotype-penetrance-and-treatment-of-133-ctla-4-insufficient-individuals
#19
Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich, Virginia Patiño, Klaus Warnatz, Daniel Wolff, Akihiro Hoshino, Masao Kobayashi, Kohsuke Imai, Masatoshi Takagi, Ingunn Dybedal, Jamanda A Haddock, David Sansom, Jose M Lucena, Maximilian Seidl, Annette Schmitt-Gräff, Veronika Reiser, Florian Emmerich, Natalie Frede, Alla Bulashevska, Ulrich Salzer, Desirée Schubert, Seiichi Hayakawa, Satoshi Okada, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Zdenek Sumnik, Anna Sediva, Mary Slatter, Peter D Arkwright, Andrew Cant, Hanns-Martin Lorenz, Thomas Giese, Vassilios Lougaris, Alessandro Plebani, Christina Price, Kathleen E Sullivan, Michel Moutschen, Jiri Litzman, Tomas Freiberger, Frank L van de Veerdonk, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Carsten Speckmann, Stephan Ehl, Alan Leichtner, Richard Blumberg, Andre Franke, Scott Snapper, Sebastian Zeissig, Charlotte Cunningham-Rundles, Lisa Giulino-Roth, Olivier Elemento, Gregor Dückers, Tim Niehues, Eva Fronkova, Veronika Kanderová, Craig D Platt, Janet Chou, Talal Chatila, Raif Geha, Elizabeth McDermott, Su Bunn, Monika Kurzai, Ansgar Schulz, Laia Alsina, Ferran Casals, Angela Deyà-Martinez, Sophie Hambleton, Hirokazu Kanegane, Kjetil Taskén, Olaf Neth, Bodo Grimbacher
BACKGROUND: Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in humans. OBJECTIVE: To characterize the penetrance, the clinical features and the best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcome of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers...
May 3, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29725031/molecular-patterns-in-cytopenia-patients-with-or-without-evidence-of-myeloid-neoplasm-a-comparison-of-756-cases
#20
Constance Baer, Christian Pohlkamp, Claudia Haferlach, Wolfgang Kern, Torsten Haferlach
No abstract text is available yet for this article.
March 30, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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