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https://www.readbyqxmd.com/read/29146883/a-landscape-of-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#1
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Naddia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% bone marrow blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29145679/-leukopenia-a-diagnostic-guideline-for-the-clinical-routine
#2
Deborah Christen, Tim H Brümmendorf, Jens Panse
Reasons for leukopenia can be numerous. To get close to the diagnosis it's always useful to check previous blood counts of the patient to get a feeling for the dynamic development of the leukopenia. Furthermore, it's important to check the red blood cell count and platelet count as well; a bi- or a pancytopenia usually implies an insufficient production in the bone marrow. Nevertheless, a manual counted peripheral blood smear is an essential step towards the right diagnosis in leukopenia: Beside cell counts of the single subgroups of leucocytes it also provides information on potential causes such as dysplasia...
November 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29145319/primary-myelofibrosis-and-pregnancy-outcomes-after-low-molecular-weight-heparin-administration-a-case-report-and-literature-review
#3
Roxana Elena Bohîlţea, Monica Mihaela Cîrstoiu, Crîngu Antoniu Ionescu, Emilia Niculescu-Mizil, Ana Maria Vlădăreanu, Irina Voican, Mihai Dimitriu, Natalia Turcan
RATIONALE: Primary myelofibrosis is encountered with the myeloproliferative diseases and is the least prevalent among women of childbearing age. The prognosis is guided by pancytopenia, leukemic transformation and thrombosis which are the dominant complications. PATIENT CONCERNS: Data regarding protocol management during pregnancy in the context of myelofibrosis are insufficient. Fewer than ten cases have been described until now and half of this cases have resulted in fetal death due to placental infarction during the second and third trimesters...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29138744/multiple-myeloma-in-an-amur-tiger-panthera-tigris-altaica
#4
Alison M Lee, Naomi Guppy, John Bainbridge, Hanne Jahns
The Amur tiger (Panthera tigris altaica) is an endangered tiger subspecies. An adult zoo-bred female was found collapsed, and died despite supportive treatment. Hematology and biochemistry showed pancytopenia and hyperglobulinemia, and serum protein electrophoresis revealed a monoclonal band in the β-globulin region. Necropsy demonstrated hemoabdomen, multifocal lytic bone marrow lesions, splenomegaly, and hemorrhagic hepatic nodules, with left medial lobe rupture. There were mutifocal hemorrhages in the subcutis, lung, epicardium, and intestinal mucosa...
2017: Open veterinary journal
https://www.readbyqxmd.com/read/29138283/frequency-of-and-reasons-for-paroxysmal-nocturnal-haemoglobinuria-screening-in-patients-with-unexplained-anaemia
#5
James T England, Bakul Dalal, Heather A Leitch
Referral to hematology for anemia is common. In paroxysmal nocturnal hemoglobinuria (PNH), cells deficient in the glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. Eculizumab improves overall survival and quality of life while reducing hemolysis, transfusion requirements, and thrombosis. We evaluated the frequency of screening for PNH in patients with unexplained anemia. Key clinical features, laboratory data, and investigations were recorded for patients referred for anemia since 2010, without a specific cause found...
November 14, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29130363/antioxidant-role-of-autophagy-in-maintaining-the-integrity-of-glomerular-capillaries
#6
Jun Matsuda, Tomoko Namba, Yoshitsugu Takabatake, Tomonori Kimura, Atsushi Takahashi, Takeshi Yamamoto, Satoshi Minami, Shinsuke Sakai, Ryuta Fujimura, Jun-Ya Kaimori, Isao Matsui, Takayuki Hamano, Yoko Fukushima, Keiko Matsui, Tomoyoshi Soga, Yoshitaka Isaka
Autophagy is a lysosomal degradation system by which cytosolic materials and damaged organelles are broken down into basic components. To explore the physiological role of autophagy in glomerular endothelial cells (GEnCs), we compared the autophagic flux among cells in the kidney under starvation. Inhibition of autophagy by chloroquine administration significantly increased the number of autophagosomes or autolysosomes in GEnCs and proximal tubular cells, but not in podocytes, suggesting that the GEnCs exhibit substantial autophagic activity...
November 13, 2017: Autophagy
https://www.readbyqxmd.com/read/29118233/hairy-cell-leukemia-version-2-2018-nccn-clinical-practice-guidelines-in-oncology
#7
William G Wierda, John C Byrd, Jeremy S Abramson, Seema Bhat, Greg Bociek, Danielle Brander, Jennifer Brown, Asher Chanan-Khan, Steve E Coutre, Randall S Davis, Christopher D Fletcher, Brian Hill, Brad S Kahl, Manali Kamdar, Lawrence D Kaplan, Nadia Khan, Thomas J Kipps, Jeffrey Lancet, Shuo Ma, Sami Malek, Claudio Mosse, Mazyar Shadman, Tanya Siddiqi, Deborah Stephens, Nina Wagner, Andrew D Zelenetz, Mary A Dwyer, Hema Sundar
Hairy cell leukemia (HCL) is a rare type of indolent B-cell leukemia, characterized by symptoms of fatigue and weakness, organomegaly, pancytopenia, and recurrent opportunistic infections. Classic HCL should be considered a distinct clinical entity separate from HCLvariant (HCLv), which is associated with a more aggressive disease course and may not respond to standard HCL therapies. Somatic hypermutation in the IGHV gene is present in most patients with HCL. The BRAF V600E mutation has been reported in most patients with classic HCL but not in those with other B-cell leukemias or lymphomas...
November 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29115638/the-shortening-telomere-length-of-t-lymphocytes-maybe-associated-with-hyper%C3%A2-function-in-servere-aplastic-anemia
#8
Chaomeng Wang, Tian Zhang, Yihao Wang, Yang Li, Chunyan Liu, Hui Liu, Lijuan Li, Kai Ding, Ting Wang, Honglei Wang, Zonghong Shao, Rong Fu
Severe aplastic anemia (SAA) is a primary disorder of severe bone marrow failure characterizing with extreme pancytopenia and a profound diminution of bone marrow progenitor cells, which is associated with T cell hyper‑function. Abnormal telomere shortening of bone marrow mononuclear cell has been reported in AA, which may lead to genomic instability, and result in cell senescence or apoptosis. Notably, certain studies identfieid that lymphocytes of shortening telomere length have undergone apoptosis escape in autoimmune diseases...
November 8, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29113425/large-granular-lymphocytosis-after-transplantation
#9
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/29113409/phase-i-clinical-trial-of-axl1717-for-treatment-of-relapsed-malignant-astrocytomas-analysis-of-dose-and-response
#10
Robert Aiken, Magnus Axelson, Johan Harmenberg, Maria Klockare, Olle Larsson, Cecilia Wassberg
Purpose: Early phase I study of safety of AXL1717 in patients with recurrent or progressive malignant astrocytomas and evaluation of preliminary anti-tumor efficacy. Patients and methods: Nine patients fulfilling the set criteria were enrolled. Eight had recurrent glioblastoma and one gliosarcoma. Patients were treated with an oral suspension of AXL1717 (215-400 mg bid) cycle-by-cycle in 35-day cycles (28 days bid and 7 days off). Patients with progressive disease and/or toxicity-related dose delay of more than 14 days were withdrawn...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29111186/plasmodium-falciparum-found-in-the-bone-marrow-of-a-child-in-manado-city-east-indonesia-a-case-report
#11
Suryadi N N Tatura, Stefanus Gunawan, Janno Bernadus, Sianne Sandjoto
In Indonesia, there are at least 1.3 million cases of malaria each year and Plasmodium falciparum appears to be the most common Plasmodium. The finding of Plasmodium is important for the diagnosis and management of malaria. This is a case of a 4-year-and-9-month-old male who lived in Manado, East Indonesia. He presented with a prolonged fever, was pale in appearance, and was easily fatigued over the last 3 weeks. Hepato-splenomegaly was found on the initial physical examination. Preliminary laboratory findings found pancytopenia and severe anemia...
October 2017: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/29103272/first-case-of-canine-infection-with-hepatozoon-canis-apicomplexa-haemogregarinidae-in-the-republic-of-korea
#12
Seung-Joo Kwon, Yoon-Hee Kim, Hyun-Hee Oh, Ul-Soo Choi
This report describes a dog infected with Hepatozoon canis, the first canine infection in the Republic of Korea. A 2-year-old intact male Maltese dog presented with anorexia and depression. Physical examinations revealed mild dehydration and hyperthermia (39.8°C), and blood analysis showed pancytopenia. Diff-Quik staining of blood smear specimens showed the presence of ellipsoidal shaped structures (gamonts of H. canis) within a small number of neutrophils. Real-time PCR analysis using whole blood confirmed infection by H...
October 2017: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/29093395/near-tetraploidy-acute-myeloid-leukemia-in-long-term-remission-with-persistent-clonal-hematopoiesis-with-del-20-q12q13
#13
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/29075543/undetected-severe-fetal-myelosuppression-following-administration-of-high-dose-cytarabine-for-acute-myeloid-leukemia-is-more-frequent-surveillance-necessary
#14
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/29075423/myeloid-sarcoma-of-the-oral-cavity-a-case-report-and-review-of-89-cases-from-the-literature
#15
Bruno-Augusto-Benevenuto de Andrade, Renan-de Barros Farneze, Michelle Agostini, Ellen-Brilhante Cortezzi, Aline-Corrêa Abrahão, Marcia-Grillo Cabral, Alicia Rumayor, Mário-José Romañach
Myeloid sarcoma is a tumor mass of immature myeloid or granulocytic cells that affects extramedullary anatomic sites, including uncommonly the oral cavity. A 24-year-old female was referred for evaluation of a fast growing painful gingival swelling lasting 2 weeks, associated with fever, fatigue, and cervical lymphadenopathy. Intraoral examination showed a bluish swelling on the right posterior lower gingiva exhibiting necrotic surface. Incisional biopsy of the gingival lesion displayed diffuse infiltration of undifferentiated tumor cells with granulocytic appearance, strongly immunopositive for CD99, myeloperoxidase and Ki-67 (60%), and negative for CD20, CD3, CD34 and TdT...
September 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29073781/pancytopenia-and-fever-of-unknown-origin-in-a-12-year-old-boy
#16
Ethan Speir, Courtney Charvat, Sarah Varghese
No abstract text is available yet for this article.
October 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/29071359/bone-marrow-failure-and-extramedullary-hematopoiesis-in-mccune-albright-syndrome
#17
C Robinson, A M Boyce, A Estrada, D E Kleiner, R Mathew, R Stanton, H Frangoul, M T Collins
In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism...
October 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/29069118/a-howling-cause-of-pancytopenia
#18
Allison Casciato, Carrie Lind, Andrew P J Olson, Bryce A Binstadt, Alaina M Davis
BACKGROUND: HASH(0x3c52860) OBJECTIVE: HASH(0x3c7bdb0) DESIGN, SETTING, PATIENTS: HASH(0x3c7bc30) INTERVENTION: HASH(0x3ce67a0) MEASUREMENTS: HASH(0x3ce64e8) CONCLUSIONS: HASH(0x4137fd8)
October 4, 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/29063464/diverse-patterns-of-anti-tnf-%C3%AE-induced-lupus-case-series-and-review-of-the-literature
#19
REVIEW
Ora Shovman, Shalev Tamar, Howard Amital, Abdulla Watad, Yehuda Shoenfeld
The induction of autoantibodies is common following therapy with anti-TNF-α agents. However, anti-TNF-α-induced lupus (ATIL) is rare. We assessed the clinical characteristics of three patients with inflammatory bowel disease (IBD) who were treated with infliximab and developed distinct subsets of ATIL. Also, we searched for similar cases in the published literature. We describe three patients with ATIL. The first patient had a classical drug-induced lupus (DIL) presented by thrombocytopenia that resolved after infliximab discontinuation...
October 23, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29038713/coexistence-of-lupus-nephritis-and-sickle-cell-trait-an-electron-microscopic-assessment-of-renal-glomerular-damage-case-report-of-a-rare-association
#20
Yahya Elficki, Atif Rawas, Asseil Ali Bossei, Areej Bdawod, Reem Zabani, Bayan Shams
Because of similarities of the musculoskeletal, central nervous system, and renal manifestations in both diseases, diagnosing systemic lupus erythematosus (SLE) in sickle cell disease (SCD) patients can be difficult to establish. Although Sickle Cell Trait (SCT) is still considered a benign form of SCD, its impact on kidney injury and other renal manifestations is well recognized in the literature. In this case report, we look at the challenges that develop when diagnosing patients with a concurrence of both diseases and the importance of early recognition and treatment of lupus nephritis in SCT patients...
September 2017: Electronic Physician
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