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Rare anemias

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https://www.readbyqxmd.com/read/28097850/-a-regenerative-anemia-in-infants-2-cases-of-pearson%C3%A2-s-syndrome
#1
José M Martínez de Zabarte Fernández, Carmen Rodríguez-Vigil Iturrate, Cristina Martínez Faci, Inmaculada García Jiménez, Laura Murillo Sanjuan, Ascensión Muñoz Mellado
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28096088/how-i-treat-acquired-aplastic-anemia
#2
Andrea Bacigalupo
Acquired severe aplastic anemia (SAA) is a rare hematologic disease associated with significant morbidity and mortality. Immune destruction of hemopoietic stem cells, plays an important role in the pathogenesis, as shown by successful treatment with immunosuppressive agents (IST), leading to transfusion independence, or complete recovery of peripheral blood counts, in a proportion of patients. Growth factors, can be combined with IST, and may improve response rates, as recently shown with thrombopoietin analogs...
January 17, 2017: Blood
https://www.readbyqxmd.com/read/28095881/renal-function-in-patients-with-non-dialysis-chronic-kidney-disease-receiving-intravenous-ferric-carboxymaltose-an-analysis-of-the-randomized-find-ckd-trial
#3
Iain C Macdougall, Andreas H Bock, Fernando Carrera, Kai-Uwe Eckardt, Carlo Gaillard, David Van Wyck, Yvonne Meier, Sylvain Larroque, Simon D Roger
BACKGROUND: Preclinical studies demonstrate renal proximal tubular injury after administration of some intravenous iron preparations but clinical data on renal effects of intravenous iron are sparse. METHODS: FIND-CKD was a 56-week, randomized, open-label, multicenter study in which patients with non-dialysis dependent chronic kidney disease (ND-CKD), anemia and iron deficiency without erythropoiesis-stimulating agent therapy received intravenous ferric carboxymaltose (FCM), targeting either higher (400-600 μg/L) or lower (100-200 μg/L) ferritin values, or oral iron...
January 17, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28095350/progressive-multifocal-leukoencephalopathy-in-a-patient-with-systemic-mastocytosis-treated-with-cladribine
#4
Karl B Alstadhaug, Randi Fykse Halstensen, Francis Odeh
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the human polyomavirus JC (JCPyV). A particular problem with the drug cladribine seems to be prolonged suppression of the CD4+ T-cells, a well-known risk factor for PML. CASE DESCRIPTION: A 67-year-old male presented with a 3-weeks history of unsteady gait, dysarthria and a dysfunctional right arm. Seven years earlier, he had been diagnosed with urticaria pigmentosa, and 2 years later aggressive systemic mastocytosis...
December 14, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28094456/waldenstr%C3%A3-m-macroglobulinemia-2017-update-on-diagnosis-risk-stratification-and-management
#5
Morie A Gertz
: Disease Overview: Waldenström macroglobulinemia (WM) is a lymphoplasmacytic lymphoma with immunoglobulin M (IgM) monoclonal protein. Clinical features include anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and rarely hyperviscosity. DIAGNOSIS: Presence of IgM monoclonal protein associated with ≥10% clonal lymphoplasmacytic cells in bone marrow confirms the diagnosis. The L265P mutation in MYD88 is detectable in more than 90% of patients. Risk Stratification: Age, hemoglobin level, platelet count, β2 microglobulin, and monoclonal IgM concentrations are characteristics required for prognosis...
February 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28094068/-large-vessel-vasculitis-with-myelodysplastic-syndrome-a-rare-association
#6
J Galland, H Kawski, J-F Guichard, F Maurier
INTRODUCTION: The vasculitis can be the consequence of malignancy: most often hematologic rather than solid tumors. The association between large vessels vasculitis and myelodysplastic syndrome is rare. CASE REPORT: A 55-year-old man experienced asthenia, fever, polyarthritis and inflammatory syndrome. Haematological investigations found a type 2 refractory anemia with excess blasts (RAEB-2) with discovery of severe anemia (Hb: 7,8g/dl) and thrombopenia (platelets: 40,000/mm(3))...
January 13, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28090473/three-year-old-male-with-multiple-dieulafoy-lesions-treated-with-epinephrine-injections-via-therapeutic-endoscopy
#7
Christina L Baldwin, Michael Wilsey
Dieulafoy lesions, vascular anomalies typically found along the gastrointestinal tract, have been viewed as rare and obscure causes of sudden intestinal bleeding, especially in pediatric patients. Since their discovery in the late 19th century, the reported incidence has increased. This is due to an increased awareness of, and knowledge about, their presentation and to advanced endoscopic diagnosis and therapy. Our patient was a three-year-old male, without a complex medical history. He presented to the emergency department with acute hematemesis with blood clots and acute anemia requiring blood transfusion...
December 2016: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28087540/international-evidence-based-consensus-diagnostic-criteria-for-hhv-8-negative-idiopathic-multicentric-castleman-disease
#8
David C Fajgenbaum, Thomas S Uldrick, Adam Bagg, Dale Frank, David Wu, Gordan Srkalovic, David Simpson, Amy Y Liu, David Menke, Shanmuganathan Chandrakasan, Mary Jo Lechowicz, Raymond S M Wong, Sheila Pierson, Michele Paessler, Jean-François Rossi, Makoto Ide, Jason Ruth, Michael Croglio, Alexander Suarez, Vera Krymskaya, Amy Chadburn, Gisele Colleoni, Sunita Nasta, Raj Jayanthan, Christopher S Nabel, Corey Casper, Angela Dispenzieri, Alexander Fosså, Dermot Kelleher, Razelle Kurzrock, Peter Voorhees, Ahmet Dogan, Kazuyuki Yoshizaki, Frits van Rhee, Eric Oksenhendler, Elaine S Jaffe, Kojo S J Elenitoba-Johnson, Megan S Lim
Human Herpesvirus-8(HHV-8)-negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction due to a cytokine storm often including interleukin-6. iMCD accounts for one-third to one-half of all cases of MCD and can occur in individuals of any age. Accurate diagnosis is challenging, as no standard diagnostic criteria or diagnostic biomarkers currently exist, and there is significant overlap with malignant, autoimmune, and infectious disorders...
January 13, 2017: Blood
https://www.readbyqxmd.com/read/28078984/rasburicase-induced-methemoglobinemia-in-a-patient-with-glucose-6-phosphate-dehydrogenase-deficiency
#9
Maliha Khan, Shilpa Paul, Saad Farooq, Thein Hlaing Oo, Priya Ramshesh, Nitin Jain
BACKGROUND: Rasburicase is commonly used in patients with hematologic malignancies for tumor lysis syndrome prophylaxis and management. Methemoglobinemia is a serious rare adverse effect of rasburicase, more common in patients with G6PD deficiency. Prompt diagnosis and appropriate management of this condition can make the difference between successful recovery and significant morbidity. Here we discuss the link of rasburicase with methemoglobinemia and the pathophysiology behind increased incidence of this side effect in G6PD deficient patients...
January 11, 2017: Current Drug Safety
https://www.readbyqxmd.com/read/28073728/biermer-anemia-hematologic-characteristics-of-66-patients-in-a-clinical-hematology-unit-at-senegal
#10
F Seynabou, N Fatou Samba Diago, D Oulimata Diop, S Abibatou Fall, D Nafissatou
Hematological manifestations can lead to diagnosis of pernicious anemia, also known as Biermer disease and Biermer anemia. This disease has been little studied among black Africans. Our aim is to describe its diagnostic and therapeutic aspects and outcome in our practice. This descriptive study retrospectively examined the records of 66 patients with pernicious anemia seen at the Clinical Hematology Unit of Le Dantec Hospital in Senegal from January 1, 2000, to June 30, 2014. Symptoms were anemic syndrome (40 cases), hemolytic anemia (13), anemic heart failure (7), isolated pallor of the mucous membranes (5), and venous thrombosis (2)...
November 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/28072728/upper-gastrointestinal-symptoms-in-autoimmune-gastritis-a-cross-sectional-study
#11
Marilia Carabotti, Edith Lahner, Gianluca Esposito, Maria Carlotta Sacchi, Carola Severi, Bruno Annibale
Autoimmune gastritis is often suspected for its hematologic findings, and rarely the diagnosis is made for the presence of gastrointestinal symptoms. Aims of this cross-sectional study were to assess in a large cohort of patients affected by autoimmune gastritis the occurrence and the pattern of gastrointestinal symptoms and to evaluate whether symptomatic patients are characterized by specific clinical features.Gastrointestinal symptoms of 379 consecutive autoimmune gastritis patients were systematically assessed and classified following Rome III Criteria...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28068959/pancreatic-neuroendocrine-tumor-with-metastasis-to-the-spleen-a-case-report
#12
Yasunaru Sakuma, Yoshikazu Yasuda, Naohiro Sata, Yoshinori Hosoya, Atsushi Shimizu, Hirofumi Fujii, Daisuke Matsubara, Noriyuki Fukushima, Atsushi Miki, Misato Maeno, Alan Kawarai Lefor
BACKGROUND: Long-term term survival in patients with pancreatic neuroendocrine tumors has been reported, even in patients with metastatic disease. Metastases to the spleen are extremely rare, but have been reported from a number of primary malignancies, such as breast cancer, lung cancer, melanoma and ovarian cancer. This is the first report of a splenic metastasis from a primary pancreatic neuroendocrine tumor. CASE PRESENTATION: The patient presented as a 53 years old white male with anemia and fatigue...
January 9, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28067166/stem-cell-genetic-therapy-for-fanconi-anemia-a-new-hope
#13
Helmut Hanenberg, Katharina Roellecke, Constanze Wiek
Fanconi anemia (FA) is a rare inherited DNA disorder clinically characterized by congenital malformations, progressive bone marrow failure, and cancer susceptibility. Due to a strong survival advantage of spontaneously corrected 'normal' hematopoietic stem cells (HSCs) in a few patients, FA is considered a model disorder for genetic correction of autologous stem cells, where genetically corrected stem cells and their progeny have a strong in vivo selective advantage, ultimately leading to normal hematopoiesis...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28067165/gene-therapy-in-fanconi-anemia-a-matter-of-time-safety-and-gene-transfer-tool-efficiency
#14
Verhoeyen Els, Francisco José Román Rodríguez, François-Loïc Cosset, Camille Lévy, Paula Rio
Fanconi anemia (FA) is a rare genetic syndrome characterized by progressive marrow failure. Gene therapy by infusion of FA-corrected autologous hematopoietic stem cells (HSCs) may offer a potential cure since it is a monogenetic disease with mutations in the FANC genes, coding for DNA repair enzymes (See review[1]). However, the collection of hCD34 +-cells in FA patients implies particular challenges because of the reduced numbers of progenitor cells present in their bone marrow (BM)[2] or mobilized peripheral blood[3-5]...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28063954/autoimmune-cytopenias-associated-with-inflammatory-bowel-diseases-insights-from-a-multicenter-retrospective-cohort
#15
Mathieu Uzzan, Lionel Galicier, Jean-Marc Gornet, Eric Oksenhendler, Claire Fieschi, Matthieu Allez, Yoram Bouhnik, Julien Kirchgesner, David Boutboul, Xavier Treton, Laurence Gérard, Matthieu Mahévas, Jacques Cosnes, Aurélien Amiot
INTRODUCTION: Autoimmune cytopenias (AIC) including autoimmune hemolytic anemia (AIHA) and immunologic thrombocytopenia (ITP) are rare immunologic disorders, scarcely reported in inflammatory bowel diseases (IBD). We conducted a multicentric retrospective study, including a case-control analysis, that aimed to describe the characteristics and outcomes of patients affected by AIC and IBD. METHOD: Forty cases were recruited from 4 IBD centers and 2 AIC tertiary centers...
December 23, 2016: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28062362/induced-pluripotent-stem-cell-technology-a-window-for-studying-the-pathogenesis-of-acquired-aplastic-anemia-and-possible-applications
#16
REVIEW
Mahmoud Elbadry, J Luis Espinoza, Shinji Nakao
Recent progress in human induced pluripotent stem cells (iPSCs) has opened the door to better understand the biology of human diseases, especially in rare disorders, such as acquired aplastic anemia (AA), in which the target hematopoietic tissues are depleted. The advent of somatic cell reprogramming has presented new routes for generating hematopoietic stem cells (HSCs) from patient-derived iPSCs and their differentiation into hematopoietic lineages. The purpose of this review is to discuss the recent advances in iPSC research technology and its potential applications in disease modeling for understanding the pathogenesis of bone marrow failure syndrome (BMFS) and the potential clinical utility of iPSC-derived cells...
January 3, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28060124/fanconi-anemia-a-rarely-considered-cause-of-macrocytosis-during-childhood
#17
Deniz Aslan
We describe a Turkish boy newly diagnosed with Fanconi anemia with mutation in the FANCA gene. The patient, with normal clinical phenotype and negative chromosomal breakage test result, presented with macrocytosis. No clinical or laboratory changes were observed in a follow-up period of 4 years. The diagnosis was confirmed molecularly after a prolonged and exhaustive investigation. He was found to be a compound heterozygote for 2 mutations in the FANCA gene (1 of which is novel, c.4261-2A>C). We present this experience to alert physicians that Fanconi anemia should be considered in the differential diagnosis of otherwise unexplained macrocytosis during childhood...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28058081/fungal-esophagitis-presenting-with-esophagitis-dissecans-superficialis-cause-or-concurrence-a-diagnostic-conundrum
#18
Rashmee Patil, Tagore Sunkara, Mel A Ona, Vinaya Gaduputi, Madhavi Reddy
Esophagitis dissecans superficialis (EDS) is a rare desquamative disorder of the esophagus. It is characterized by sheets of sloughed squamous tissue with normal underlying mucosa. We present a case of a 68-year-old man with severe anemia and a positive fecal occult blood test who was found to have features suggestive of EDS during endoscopy. However, histological features were suggestive of both EDS and fungal esophagitis. To our knowledge, this is the first reported case in literature which discusses the clinical scenario of fungal infection being a possible etiology rather than a commonly accepted differential diagnosis of EDS...
December 2016: Gastroenterology Research
https://www.readbyqxmd.com/read/28053696/invasive-thymoma-with-pure-red-cell-aplasia-and-amegakaryocytic-thrombocytopenia
#19
Takuya Onuki, Yusuke Kiyoki, Sho Ueda, Masatoshi Yamaoka, Seiich Shimizu, Masaharu Inagaki
We here describe a case involving a 67-yearold female patient who was referred to our hospital due to severe anemia (hemoglobin, 5.0 g/dL), thrombocytopenia (platelet count, 0.6 × 10(4)/μL), and a mediastinal shadow with calcification noted on X-ray. On admission, an anterior mediastinal tumor was detected, and bone marrow biopsy revealed few megakaryocytes and severely reduced numbers of erythroid cells. The diagnosis was thymoma with pure red cell aplasia (PRCA) and acquired amegakaryocytic thrombocytopenia (AAMT)...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/28044953/a-rare-case-of-upper-digestive-hemorrhage-due-to-bleeding-duodenal-tumor
#20
Claudiu Turculeţ, Dragoş Ene, Teodor Florin Georgescu, E Ciucă, A Vlădăşcău, Florin Iordache, Mircea Beuran
We present the case of a 48-year-old patient with no medical history, who presents himself to the emergency room with melena, asthenia and dizziness. The blood tests revealed a severe anemia (Hb = 4,8 g/dL). He is admitted in the Gastroenterology ward, where a first superior digestive endoscopy is performed which shows a duodenal bleeding tumor (second duodenum) of 7 cm in length. After the administration of red blood cell mass, plasma and haemostatic agents the level of the hemoglobin increases. The abdominal CT scan reveals a 3/5 tumor localized in the second and third duodenum...
November 2016: Chirurgia
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