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https://www.readbyqxmd.com/read/28523896/hemophagocytic-lymphohistiocytosis-in-a-newborn-presenting-as-blueberry-muffin-baby
#1
Krista N Larson, Sergio R Gaitan, Benjamin J Stahr, Dean S Morrell
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled activation and proliferation of proinflammatory cytokines. Initial presentation commonly includes fever, hepatosplenomegaly, and pancytopenia; 6 to 65% of cases also have a concurrent cutaneous eruption. We present the case of a 6-day-old premature infant boy with congenital severe thrombocytopenia, anemia, and hepatosplenomegaly who presented with several cutaneous violaceous papules and nodules and was found to have HLH...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523321/autoimmune-hepatitis-with-sclerosing-cholangitis-in-a-patient-with-thiopurine-methyltransferase-deficiency-case-presentation
#2
Sorin Claudiu Man, Cristina Nicoleta Schnell, Valentina Sas, Anca Dana Buzoianu, Dan Gheban
The association between two autoimmune diseases is known in the literature as overlap syndrome. We present the case of an 18-year-old boy, diagnosed at the age of 13 with an overlap syndrome between type I autoimmune hepatitis and sclerosing cholangitis. The response to immunosuppressant therapy was hampered by azathioprine-induced toxicity causing severe pancytopenia, as a result of thiopurine methyltransferase enzyme genetic deficiency. Treatment was replaced by mycophenolate mofetil. Although the relapse rate was reduced, the disease progressed to cirrhosis...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28521652/case-report-patient-with-unexplained-high-fever-and-pancytopenia
#3
Kelly De Schuyter, Tom Lodewyck
OBJECTIVE AND IMPORTANCE: We present a case of hemophagocytic lymphohistiocytosis (HLH), giving insight in how to establish diagnosis and start appropiate treatment. CLINICAL PRESENTATION: A 45-year-old male presented at the emergency ward with high fever and pancytopenia. Repeat bone marrow aspirates showed hemophagocytosis. Extensive work-up with exclusion of other infectious and malignant diseases, eventually lead us to the diagnosis of hemophagocytic lymphohistiocytosis...
May 19, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28513496/intra-arterial-chemotherapy-for-retinoblastoma-two-year-results-from-tertiary-eye-care-center-in-india
#4
Pukhraj Rishi, Tarun Sharma, Minal Sharma, Aditya Maitray, Abhinav Dhami, Vishvesh Aggarwal, Saravanan Munusamy, R Ravikumar, Satheesh Ramamurthy
AIM: The aim of this study is to describe treatment outcomes and complications of selective intra-arterial chemotherapy (IAC) for intraocular retinoblastoma (RB). MATERIALS AND METHODS: A retrospective, interventional series of 10 eyes with RB which underwent IAC using melphalan (5 mg/7.5 mg) and topotecan (1 mg), or melphalan (5 mg/7.5 mg) alone. Treatment outcomes were evaluated in terms of tumor control, vitreous seeds (VS) and subretinal seeds (SRS) control, and globe salvage rates...
April 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28512588/severe-aplastic-anemia-following-parvovirus-b19-associated-acute-hepatitis
#5
Masanori Furukawa, Kosuke Kaji, Hiroyuki Masuda, Kuniaki Ozaki, Shohei Asada, Aritoshi Koizumi, Takuya Kubo, Norihisa Nishimura, Yasuhiko Sawada, Kosuke Takeda, Tsuyoshi Mashitani, Masayuki Kubo, Itsuto Amano, Tomoyuki Ootani, Chiho Ohbayashi, Koji Murata, Tatsuichi Ann, Akira Mitoro, Hitoshi Yoshiji
Human parvovirus (HPV) B19 is linked to a variety of clinical manifestations, such as erythema infectiosum, nonimmune hydrops fetalis, and transient aplastic anemia. Although a few cases have shown HPVB19 infection as a possible causative agent for hepatitis-associated aplastic anemia (HAAA) in immunocompetent patients, most reported cases of HAAA following transient hepatitis did not have delayed remission. Here we report a rare case of severe aplastic anemia following acute hepatitis with prolonged jaundice due to HPVB19 infection in a previously healthy young male...
2017: Case Reports in Hepatology
https://www.readbyqxmd.com/read/28504706/the-mitochondrial-respiratory-chain-is-essential-for-haematopoietic-stem-cell-function
#6
Elena Ansó, Samuel E Weinberg, Lauren P Diebold, Benjamin J Thompson, Sébastien Malinge, Paul T Schumacker, Xin Liu, Yuannyu Zhang, Zhen Shao, Mya Steadman, Kelly M Marsh, Jian Xu, John D Crispino, Navdeep S Chandel
Adult and fetal haematopoietic stem cells (HSCs) display a glycolytic phenotype, which is required for maintenance of stemness; however, whether mitochondrial respiration is required to maintain HSC function is not known. Here we report that loss of the mitochondrial complex III subunit Rieske iron-sulfur protein (RISP) in fetal mouse HSCs allows them to proliferate but impairs their differentiation, resulting in anaemia and prenatal death. RISP-null fetal HSCs displayed impaired respiration resulting in a decreased NAD(+)/NADH ratio...
May 15, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28491138/clinicohematological-and-cytogenetic-profile-of-myelodysplastic-syndromes-in-pakistan-compare-and-contrast
#7
Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan, Tahir Shamsi
BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28489771/chronic-active-epstein-barr-virus-infection-associated-with-hemophagocytic-syndrome-and-extra-nodal-natural-killer-t-cell-lymphoma-in-an-18-year-old-girl-a-case-report
#8
Yawei Xing, Junwen Yang, Guanghui Lian, Shuijiao Chen, Linlin Chen, Fujun Li
RATIONALE: Chronic active Epstein-Barr virus infection (CAEBV) associated with hemophagocytic syndrome (HPS) and extra-nodal natural killer (NK)/T-cell lymphoma (ENKL) is a rare life-threatening disorder. This disease is easily misdiagnosed because of its varied presentations. PATIENT CONCERNS: An 18-year-old girl was admitted to our hospital with a history of edema in the lower limbs and intermittent fever lasting for more than 1 month. At admission, she had severe liver injury of unknown etiology...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28484159/acute-myeloid-leukemia-with-t-3-8-q26-2-q24-a-simple-variant-of-3q26-2-evi1-translocation
#9
Kazuyuki Sato, Hirotaka Sakai, Akiko Uchida, Yu Uemura, Yuka Tsuruoka, Satoshi Yokoi, Yuji Nishio, Manabu Matsunawa, Yoshinori Suzuki, Yasushi Isobe, Masayuki Kato, Naoto Tomita, Yasuyuki Inoue, Ikuo Miura
A 70-year-old man with pancytopenia was referred to our hospital. His bone marrow comprised 75.4% leukemic blast cells and increased micromegakaryocytes. The leukemic cells were positive for myeloperoxidase and expressed CD2, CD13, CD33, CD34, CD56, CD117, HLA-DR, and MYC. Chromosomal analysis revealed 45,XY,t (3;8) (q26.2;q24),-7[6]/46,XY[14]. Fluorescence in situ hybridization revealed the rearrangement of the ecotropic viral integration site 1 (EVI1) gene. Thus, the patient was diagnosed as having acute myeloid leukemia (AML) with maturation, according to the WHO classification; he achieved complete cytogenetic remission after two courses of combination chemotherapy using anthracyclines and cytarabine...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28484155/interdigitating-dendritic-cell-sarcoma-successfully-treated-with-abvd-therapy-in-which-serum-cea-levels-correlated-with-disease-activity
#10
Reona Sakemura, Junji Hiraga, Satoshi Kitagawa, Masafumi Ito, Tomohiro Kajiguchi, Shinichi Mizuno
Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare neoplasm of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. No standard therapy for advanced IDCS has yet been established. According to past reports, CHOP-like regimens are often chosen as primary therapy. Herein, we report a case with advanced IDCS, for which ABVD achieved remarkable clinical improvement and serial CEA levels correlated with disease status. A 76-year-old man presented with general fatigue and pancytopenia with CEA elevation...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28480256/a-case-report-of-pediatric-brucellosis-in-an-algerian-immigrant
#11
Eimear Kitt, Kristina R Brannock, Lauren A VonHolz, Paul J Planet, Erin Graf, Vinodh Pillai
An 8-year old girl presented to our facility with a 10-day history of fever, fatigue, abdominal pain and refusal to walk. She recently travelled from her native Algeria where she first developed symptoms. On evaluation, she was ill-appearing, febrile and tachycardic with hepatosplenomegaly and lymphadenopathy noted on examination. A strong musty odor was also noted from the child. Laboratory evaluation revealed pancytopenia, hyponatremia, and an elevated AST, ALT, and LDH. Malaria testing was negative, as was a PPD...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28469349/mixed-malarial-infection-with-pancytopenia-in-a-child-with-acute-lymphoblastic-leukemia-an-unusual-presentation
#12
Venkateswari Ramesh, Naga Malleswari Muddana Venkata, Janani Sankar
No abstract text is available yet for this article.
January 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28468610/a-case-report-of-novel-mutation-in-prf1-gene-which-causes-familial-autosomal-recessive-hemophagocytic-lymphohistiocytosis
#13
Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28467276/acute-leukemia-in-six-horses-1990-2012
#14
Emily A Barrell, Midori Goto Asakawa, M Julia B Felippe, Thomas J Divers, Tracy Stokol
Acute leukemia is rare in horses. Herein we describe historical, clinicopathologic, and postmortem findings in 6 horses with acute leukemia. Medical records of horses with >20% bone marrow blasts and cytochemical or immunophenotyping results were reviewed. Affected horses were 2-8 y of age and of different breeds and sex. Horses were presented acutely with nonspecific signs (e.g., fever, lethargy). Characteristic hemogram findings were bi- or pancytopenia with low blast numbers. Histologic examination revealed extramedullary infiltrates, especially in lymph nodes, spleen, kidney, liver, and lungs...
May 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28463849/effect-of-febuxostat-on-the-endothelial-dysfunction-in-hemodialysis-patients-a-randomized-placebo-controlled-double-blinded-study
#15
Mona Alshahawey, Sara Mahmoud Shahin, Tamer Wahid Elsaid, Nagwa Ali Sabri
BACKGROUND: Endothelial dysfunction is an important risk factor for cardiovascular diseases to occur in end-stage renal disease patients. Febuxostat, being a novel xanthine oxidase inhibitor, is apparently having a beneficial role in improving the endothelial dysfunction; however, data among hemodialysis patients are still limited. METHODS: A prospective, placebo-controlled, block-randomized, double-blinded study was carried out to evaluate the effect of oral febuxostat on the endothelial dysfunction in hemodialysis patients...
2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28462158/severe-hypophosphatemia-following-denosumab-administration-in-a-hemodialysis-patient-with-progressive-prostate-cancer
#16
Hiroshi Masuda, Kanya Kaga, Masahiko Inahara, Kazuhiro Araki, Satoko Kojima, Yukio Naya, Makoto Takano
In a 68-year-old man on maintenance hemodialysis (HD), severe anemia was detected. Bone marrow biopsy was performed for investigation of pancytopenia and pathological examination revealed adenocarcinoma of the prostate. Prostate specific antigen (PSA) was 574 ng/mL. After androgen deprivation therapy was initiated, PSA decreased to 13.7 ng/mL. But subsequent elevation of PSA and pain due to bone metastases were recognized. Denosumab (120 mg) was administered. Although improvement of bone pain was observed, severe hypocalcemia occurred...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28452257/updates-on-the-pathophysiology-and-treatment-of-aplastic-anemia-a-comprehensive-review
#17
Prajwal Chaitanya Boddu, Tapan Mahendra Kadia
The past decade or longer has witnessed an acceleration in our understanding of previously developed immune system and clonal evolution mechanisms, and the genesis of more novel concepts of telomere attrition. Many of these concepts are steadily finding their way into translation in various aspects of clinical practice, and provide prospects to improve AA management and inform therapeutic strategy development. In this review, we intend to discuss the pathophysiology and treatments with an emphasis on most recent developments to provide an update on our understanding of disease mechanisms...
April 28, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28446487/haemophagocytic-lymphohistiocytosis-as-a-consequence-of-untreated-b-cell-chronic-lymphocytic-leukaemia
#18
Chris Bailey, Claire Dearden, Kirit Ardeshna
Haemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening syndrome characterised by defective cytotoxic function and hypercytokinaemia leading to macrophage expansion and haemophagocytosis. Patients often present with unexplained fevers, hepatosplenomegaly and pancytopenia, with elevation in serum ferritin and triglyceride. Acquired forms are triggered by infection, malignancy or rheumatological disorders. HLH in the setting of chronic lymphocytic leukaemia is rarely reported, however, and is usually associated with infection or as a consequence of chemotherapy...
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28446275/-acute-promyelocytic-leukemia-developed-during-imatinib-therapy-for-gastrointestinal-stromal-tumors
#19
Ya-Ping Yu, Ping Song, Jian-Gang Mei, Zhi-Ming An, Xiao-Gang Zhou, Feng Li, Li-Ping Wang, Yu-Mei Tang, Yong-Ping Zhai
OBJECTIVE: To investigate the clinicopathologic and molecular characteristics of acute promyelocytic leukemia(APL) developed during imatinib therapy for gastrointestinal stromal tumors(GIST). METHODS: A 49-year-old woman was hospitalized for abdominal pain. The abdominal CT revealed a gastric mass. Laparoscopic resection of the tumor was performed. The histopathologic analysis showed poorly differentiated malignant cell infiltration with epithelioid features. Immunohistochemistry staining of these cells was positive for CD117 and CD34...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28444757/hypocobalaminaemia-as-a-cause-of-bone-marrow-failure-and-pancytopenia-in-a-cat
#20
E L Stanley, A E Eatroff
CASE REPORT: A male Domestic Short-hair cat was presented for chronic weight loss, lethargy and hyporexia. Complete haematological examination revealed non-regenerative anaemia, neutropenia and thrombocytopenia, as well as Howell-Jolly bodies, anisocytosis, polychromasia and macrocytosis on blood smear evaluation. Histopathological evaluation of bone marrow biopsy disclosed hypocellularity consistent with bone marrow failure. Concurrent hypocobalaminaemia was identified and treated with parenteral cyanocobalamin supplementation...
May 2017: Australian Veterinary Journal
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