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https://www.readbyqxmd.com/read/27914778/familial-haemophagocytosis-lymphohisticytosis-type-3-a-case-report
#1
F Kamoun, M Hsairi, V Grandin, S Ben Ameur, G De Saint Basile, M Hachicha
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune regulation. Here, we report on a fatal case of type 3 FHL (FHL3) in a 45-day-old boy. Clinically, the infant presented with fever and hepatosplenomegaly. Biology showed pancytopenia, elevated ferritin, and decreased fibrinogen. Images of hemophagocytosis were found at the bone morrow examination. The diagnosis of FHL type 3 was made by the identification of homozygous mutation in the Munc13-4 gene (UNC13D) located in exon 20: 1822 del 12bp (V608fs)...
November 30, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27913467/transplantation-for-bone-marrow-failure-current-issues
#2
Régis Peffault de Latour
The preferred treatment of idiopathic aplastic anemia (AA) is allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-identical sibling donor. Transplantation from a well-matched unrelated donor (MUD) may be considered for patients without a sibling donor after failure of immunosuppressive therapy, as may alternative transplantation (mismatched, cord blood or haplo-identical HSCT) for patients without a MUD. HSCT may also be contemplated for congenital disorders in cases of pancytopenia or severe isolated cytopenia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913251/unmapped-reads-from-cattle-rnaseq-data-a-source-for-missing-and-misassembled-sequences-in-the-reference-assemblies-and-for-detection-of-pathogens-in-the-host
#3
Tahir Usman, Frieder Hadlich, Wiebke Demasius, Rosemarie Weikard, Christa Kühn
Usually, reads from transcriptome sequencing data unmapped to the target species reference genome are disregarded. A recent RNAseq project on the new fatal disease Bovine Neonatal Pancytopenia had indicated an unexplained immune response signature to a double stranded RNA virus. To unravel its background, contigs were de novo assembled from unmapped RNAseq reads and aligned against the bovine genome assemblies and multispecies NCBI databases. Lack of genuine virus sequence contigs rejected the hypothesis of a live virus being causal for the unexplained immune response...
November 29, 2016: Genomics
https://www.readbyqxmd.com/read/27905518/pesticide-toxicogenomics-across-scales-in-vitro-transcriptome-predicts-mechanisms-and-outcomes-of-exposure-in-vivo
#4
Immacolata Porreca, Fulvio D'Angelo, Lucia De Franceschi, Alessandro Mattè, Michele Ceccarelli, Achille Iolascon, Alberto Zamò, Filomena Russo, Maria Ravo, Roberta Tarallo, Marzia Scarfò, Alessandro Weisz, Mario De Felice, Massimo Mallardo, Concetta Ambrosino
In vitro Omics analysis (i.e. transcriptome) is suggested to predict in vivo toxicity and adverse effects in humans, although the causal link between high-throughput data and effects in vivo is not easily established. Indeed, the chemical-organism interaction can involve processes, such as adaptation, not established in cell cultures. Starting from this consideration we investigate the transcriptomic response of immortalized thyrocytes to ethylenthiourea and chlorpyrifos. In vitro data revealed specific and common genes/mechanisms of toxicity, controlling the proliferation/survival of the thyrocytes and unrelated hematopoietic cell lineages...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905287/hemophagocytic-syndrome-due-to-leishmania-infection-diagnosed-with-immunofluorescence-antibody-test
#5
Hakan Sarbay, Yasemin Işık Balcı, Selin Güler, Meral Türk, Mehmet Akın, Aziz Polat
Leishmaniasis is a reticuloendothelial system disease that mostly observed before the age of 5. Visceral infection causes long-standing fever, weight loss, weakness, pancytopenia, and hepatosplenomegaly. Leishmania infantum is responsible for visceral leishmaniasis (VL) in Turkey. We present a case of hemophagocytic syndrome due to Leishmania infection diagnosed with an immunofluorescence antibody test (IFAT). Leishmania amastigotes were not observed on bone marrow aspiration. We consider that IFAT is very important for parasite detection in the diagnosis of VL in children, particularly when amastigotes are not obtained on bone marrow aspiration...
September 2016: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/27904739/review-of-siltuximab-in-the-treatment-of-multicentric-castleman-s-disease
#6
REVIEW
Shayna Sarosiek, Ruchit Shah, Nikhil C Munshi
Castleman's disease (CD) is a rare lymphoproliferative disorder that has multiple histologic patterns, as well as two distinct clinical forms: unicentric or multicentric. Multicentric Castleman's disease (MCD) may have mild symptoms in some cases, but in others it can progress to severe pancytopenia, life-threatening infection, secondary malignancy, multiorgan failure, or death. Recent research has determined that the etiology of the disease signs and symptoms is related to elevated cytokines, including interleukin 6 (IL-6)...
December 2016: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/27903528/consensus-guidelines-for-the-diagnosis-and-management-of-patients-with-classic-hairy-cell-leukemia
#7
Michael R Grever, Omar Abdel-Wahab, Leslie A Andritsos, Versha Banerji, Jacqueline Barrientos, James S Blachly, Timothy G Call, Daniel Catovsky, Claire Dearden, Judit Demeter, Monica Else, Francesco Forconi, Alessandro Gozzetti, Anthony D Ho, James B Johnston, Jeffrey Jones, Gunnar Juliusson, Eric Kraut, Robert J Kreitman, Loree Larratt, Francesco Lauria, Gerard Lozanski, Emili Montserrat, Sameer A Parikh, Jae H Park, Aaron Polliack, Graeme R Quest, Kanti R Rai, Farhad Ravandi, Tadeusz Robak, Alan Saven, John F Seymour, Tamar Tadmor, Martin S Tallman, Constantine Tam, Enrico Tiacci, Xavier Troussard, Clive S Zent, Thorsten Zenz, Pier Luigi Zinzani, Brunangelo Falini
Hairy cell leukemia is an uncommon hematologic malignancy characterized by pancytopenia and marked susceptibility to infection. Tremendous progress in the management of patients with this disease has resulted in high response rates and improved survival, yet relapse and an appropriate approach to re-treatment present continuing areas for research. The disease and its effective treatment are associated with immunosuppression. As more patients are being treated with alternative programs, comparison of results will require general agreement on definitions of response, relapse, and methods of determining minimal residual disease...
November 30, 2016: Blood
https://www.readbyqxmd.com/read/27891378/isoniazid-induced-lupus-presenting-as-oral-mucosal-ulcers-with-pancytopenia
#8
Ria Shah, Padmaraj Ankale, Kanishk Sinha, Aparna Iyer, T K Jayalakshmi
Drug Induced Lupus Erythematous (DILE) is a rare adverse reaction to a large variety of drugs including Isoniazid (INH), with features resembling idiopathic Systemic Lupus Erythematosus (SLE). Diagnosis require identification of a temporal relationship between drug administered and symptom. It is an idiosyncratic reaction, with no pre-existing lupus. Our case highlights a rare presentation of isoniazid induced lupus with profound pancytopenia and mucosal ulcers, thus posing a diagnostic challenge. The patient was on multidrug treatment for pulmonary and knee joint tuberculosis...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27884942/severe-pancytopenia-in-a-premature-infant
#9
Katherine Chetta, Claire Morice, Nadia Merchant, Stephen Welty, Carlos A Bacino, Lorraine Potocki, Daniela Dinu
No abstract text is available yet for this article.
November 24, 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27876946/evaluation-of-clinical-biochemical-and-haematological-markers-in-natural-infection-of-canine-monocytic-ehrlichiosis
#10
Rahul Parashar, Vikrant Sudan, Amit Kumar Jaiswal, Ashish Srivastava, Daya Shanker
Caanine monocytic ehrlichiosis caused by Ehrlichia canis has gained wider significance owing to its potential to inflict significant deleterious effect on the health of companion animals. In the present study, 46 confirmed ehrlichiosis positive dogs were evaluated for the alterations in clinical, haematological and biochemical attributes. Depression, anorexia, pyrexia, anaemia, weakness, jaundice, melana, vomition and diarrhoea were the main clinical symptoms onserved. Haematological alterations included pancytopenia especially thrombocytopenia...
December 2016: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/27866577/novel-developments-in-leukopenia-and-pancytopenia
#11
REVIEW
Chisom Onuoha, Junaid Arshad, John Astle, Mina Xu, Stephanie Halene
Cytopenias are not disease entities in and of themselves; rather, they are the expression of various underlying disease processes. Careful attention to details in patients' presentation, careful history and examination, as well as attention to the ancillary parameters of the complete blood count with a peripheral blood smear can point the clinician toward the appropriate workup. Causes of cytopenias can be inherited or acquired; the latter include medication related, autoimmune, or neoplastic causes. Emergencies need to be recognized in a timely fashion and expert consultation obtained...
December 2016: Primary Care
https://www.readbyqxmd.com/read/27865549/anaemia-and-fever-in-kidney-transplant-the-role-of-human-parvovirus-b19
#12
Yanet Parodis López, Raquel Santana Estupiñán, Silvia Marrero Robayna, Roberto Gallego Samper, Fernando Henríquez Palop, José Carlos Rivero Vera, Rafael Camacho Galán, María José Pena López, Nery Sablón González, Fayna González Cabrera, Elena Oliva Dámaso, Nicanor Vega Díaz, José Carlos Rodríguez Pérez
Infections remain an issue of particular relevance in renal transplant patients, particularly viral infections. Human parvovirus B19 infection causes severe refractory anaemia, pancytopenia and thrombotic microangiopathy. Its presence is recognized by analysing blood polymerase chain reaction (PCR) and by the discovery of typical giant proerythroblasts in the bone marrow. We report the case of a 65 year-old man with a history of deceased donor renal transplant in September 2014. At 38 days after the transplant, the patient presented progressive anaemia that was resistant to erythropoiesis-stimulating agents...
November 16, 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27853859/hemophagocytic-lymphohistiocytosis-in-a-patient-with-sj%C3%A3-gren-s-syndrome-case-report-and-review
#13
REVIEW
L García-Montoya, C N Sáenz-Tenorio, I Janta, J Menárguez, F J López-Longo, I Monteagudo, E Naredo
Hemophagocytic lymphohistiocytosis (HLH) is a very rare syndrome with a mortality up to 95% of cases if not treated. It is characterised by an excessive activation of the immune system that leads to a disproportionate and destructive inflammatory response. The high mortality rates are in part due to a delay in the diagnosis, and therefore clinicians must maintain a high index of suspicion. When the treatment is started early, the survival rate reaches around 55% of cases. HLH usually presents with persistent fever, pancytopenia, and organomegaly and is associated with very high levels of serum ferritin...
November 16, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27849061/mitigation-of-radiation-induced-hematopoietic-injury-by-the-polyphenolic-acetate-7-8-diacetoxy-4-methylthiocoumarin-in-mice
#14
Kavya Venkateswaran, Anju Shrivastava, Paban K Agrawala, Ashok Prasad, Namita Kalra, Parvat R Pandey, Kailash Manda, Hanumantharao G Raj, Virinder S Parmar, Bilikere S Dwarakanath
Protection of the hematopoietic system from radiation damage, and/or mitigation of hematopoietic injury are the two major strategies for developing medical countermeasure agents (MCM) to combat radiation-induced lethality. In the present study, we investigated the potential of 7, 8-diacetoxy-4-methylthiocoumarin (DAMTC) to ameliorate radiation-induced hematopoietic damage and the associated mortality following total body irradiation (TBI) in C57BL/6 mice. Administration of DAMTC 24 hours post TBI alleviated TBI-induced myelo-suppression and pancytopenia, by augmenting lymphocytes and WBCs in the peripheral blood of mice, while bone marrow (BM) cellularity was restored through enhanced proliferation of the stem cells...
November 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27848905/-splenomegaly-in-an-eritrean-refugee-the-hyper-reactive-malaria-splenomegaly-syndrome
#15
M M Cruijsen, I J Reuling, M Keuter, R W Sauerwein, A J van der Ven, Q de Mast
BACKGROUND: Hyper-reactive malaria splenomegaly (HMS) is a rare and potentially severe complication of malaria. It is likely that the incidence of patients with HMS will rise in the Netherlands due to the recent increase in asylum-seekers from Sub-Saharan Africa. It can be difficult to diagnose this disease, as this case shows. CASE DESCRIPTION: A 31-year-old male from Eritrea was admitted with fever and dyspnea, caused by an influenza A-infection. The patient also presented with cachexia, pronounced hepatosplenomegaly and pancytopenia...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27848200/vancomycin-induced-thrombocytopenia-a-narrative-review
#16
REVIEW
Mehdi Mohammadi, Zahra Jahangard-Rafsanjani, Amir Sarayani, Molouk Hadjibabaei, Maryam Taghizadeh-Ghehi
Thrombocytopenia has been reported as an adverse reaction of numerous drugs. Vancomycin is often overlooked as a culprit but has been associated with several cases of thrombocytopenia that were not well described in the literature. A literature search was conducted to find reports of thrombocytopenia induced by vancomycin. Biomedical databases including 'PubMed', 'Scopus', and 'Web of Science' were searched using terms 'vancomycin', 'platelet', 'pancytopenia', 'thrombocytopenia', and 'bleeding'. English language articles published before July 2015 were included...
November 15, 2016: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/27846765/adult-onset-still-s-disease-like-manifestation-accompanied-by-the-cancer-recurrence-after-long-term-resting-state
#17
Kazuhito Fukuoka, Ayako Miyamoto, Yuko Ozawa, Noriko Ikegaya, Tomohiro Maesono, Yoshinori Komagata, Shinya Kaname, Yoshihiro Arimura
A 72-year-old woman presented nine months ago with skin rash on her bilateral forearms, which was followed by intermittent high fever, and stiffness and swelling of her bilateral fingers. She was diagnosed with seronegative rheumatoid arthritis (RA). She had a past history of breast cancer and had undergone breast preservation surgery 13 years previously. During admission in our hospital, she developed high fever and leukocytosis with a relapsing skin rash, sore throat, polyarthralgia and increased levels of serum ALT/AST and ferritin, all of which fulfilled Yamaguchi's criteria for adult-onset Still's disease (AOSD)...
November 16, 2016: Modern Rheumatology
https://www.readbyqxmd.com/read/27843799/etiological-causes-of-pancytopenia-a-report-of-137-cases
#18
Osman Yokuş, Habip Gedik
OBJECTIVE: The aim of this study is to evaluate the etiological causes of pancytopenia in patients who were admitted to the hematology ward due to pancytopenia. MATERIALS AND METHODS: All patients who were admitted to the hematology ward of Ministry of Health Istanbul Training and Research Hospital due to pancytopenia between 2013 and 2015 were retrospectively evaluated regarding etiological causes. RESULTS: A total of 137 patients was evaluated...
October 2016: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/27830541/achievement-of-disease-control-with-donor-derived-eb-virus-specific-cytotoxic-t-cells-after-allogeneic-peripheral-blood-stem-cell-transplantation-for-aggressive-nk-cell-leukemia
#19
Shojiro Haji, Motoaki Shiratsuchi, Takamitsu Matsushima, Akiko Takamatsu, Mariko Tsuda, Yasuhiro Tsukamoto, Emi Tanaka, Hirofumi Ohno, Eriko Fujioka, Yuriko Ishikawa, Ken-Ichi Imadome, Yoshihiro Ogawa
Aggressive NK-cell leukemia (ANKL) is characterized by systemic infiltration of Epstein-Barr virus (EBV)-associated natural killer cells and poor prognosis. We report a case of ANKL in which EBV-specific cytotoxic T lymphocytes (CTLs) were induced. A 41-year-old male suffered from fever, pancytopenia, and hepatosplenomegaly. The number of abnormal large granular lymphocytes in the bone marrow was increased and the cells were positive for CD56 and EBV-encoded small nuclear RNAs. The patient was diagnosed with ANKL and achieved a complete response following intensive chemotherapy...
November 9, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27826329/recurrent-macrophage-activation-syndrome-since-toddler-age-in-an-adolescent-boy-with-hla-b27-positive-juvenile-ankylosing-spondylitis
#20
Joon Hyeong Park, Yu Mi Seo, Seung Beom Han, Ki Hwan Kim, Jung Woo Rhim, Nack Gyun Chung, Myung Shin Kim, Jin Han Kang, Dae Chul Jeong
Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been diagnosed with hemophagocytic lymphohistiocytosis (HLH) 4 different times, which was well controlled with intravenous immunoglobulin and steroids since the age of 3...
October 2016: Korean Journal of Pediatrics
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