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Bone Marrow Failure

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https://www.readbyqxmd.com/read/29676380/fatal-meningococcal-septicemia-without-meningeal-signs-contribution-of-the-peripheral-smear-in-diagnosis-report-of-a-case
#1
Deepti Mutreja, Nikhil Moorchung, S J Manasa, Jeenu Varghese
Acute meningococcemia is characterized by extensive purpurae consisting of both petechiae and ecchymoses. This condition can be rapidly fatal without treatment due to shock and severe consumptive coagulopathy. We report a case of fatal meningococcal septicemia in a military recruit who presented with fever and associated rapidly progressive purpuric rash (purpura fulminans) without any meningeal signs. Evaluation revealed evidence of disseminated intravascular coagulopathy and multiorgan failure. Diplococci were demonstrated in peripheral blood neutrophils and monocytes...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29676375/bone-marrow-oxalosis-an-unusual-cause-of-cytopenia-in-end-stage-renal-disease-report-of-two-cases
#2
Seema Sharma, Ram Nawal Rao, Krushna Chandra Pani, Paramita Paul
Systemic oxalosis can be either primary or secondary hyperoxaluria. Oxalosis is a phenomenon in which calcium oxalate crystals deposit in various visceral organs leading to bone marrow (BM) failure and recurrent renal stones. We describe two rare cases of BM oxalosis. Hyperoxaluria is strongly associated with nephrolithiasis and nephrocalcinosis. Both the patients presented with recurrent renal stones and a variable degree of BM failure. BM oxalosis should be considered as a possible diagnosis in patients in recurrent nephrolithiasis and cytopenia...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29674506/diagnostic-and-prognostic-roles-of-circulating-exosomal-micrornas-in-acquired-aplastic-anemia-and-myelodysplastic-syndromes
#3
Valentina Giudice, Lauren G Banaszak, Fernanda Gutierrez-Rodrigues, Sachiko Kajigaya, Reema Panjwani, Maria Del Pilar Fernandez Ibanez, Olga Rios, Christopher K Bleck, Erin S Stempinski, Diego Quinones Raffo, Danielle M Townsley, Neal S Young
Exosomal microRNAs modulate cancer cell metabolism and the immune response. Specific exosomal microRNAs have been reported to be reliable biomarkers of several solid and hematologic malignancies. We examined the possible diagnostic and prognostic values of exosomal microRNAs in two human bone marrow failure diseases, aplastic anemia and myelodysplastic syndromes. After screening of 372 microRNAs in a discovery set (n=42) of plasma exosome samples, we constructed a custom microRNA PCR plate, including 42 microRNAs, for validation in a larger cohort (n=99), and we identified 25 differentially expressed exosomal microRNAs uniquely or frequently present in aplastic anemia and/or myelodysplastic syndromes...
April 19, 2018: Haematologica
https://www.readbyqxmd.com/read/29673308/allogeneic-stem-cell-transplantation-in-fanconi-anemia-and-other-inherited-bone-marrow-failure-disorders
#4
Regis Peffault de Latour
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patients with an inherited bone marrow failure syndrome (IBMFS). However, the risk of treatment-related mortality after HSCT is relatively high, with graft-versus host disease (GvHD) accounting for most of the transplant-related deaths. IBMF syndromes are rare, and case reports and small series in the literature illustrate highly heterogeneous practices in terms of indications for HSCT-, timing-, stem cell source and conditioning regimens...
April 19, 2018: Current Drug Targets
https://www.readbyqxmd.com/read/29668547/trilineage-hematopoiesis-induced-by-low-dose-eltrombopag-in-a-patient-with-fanconi-anemia-can-be-used-as-a-bridge-to-hematopoietic-stem-cell-transplant
#5
Ashish Gupta, Rasmi Palassery, Howard Meyerson, Sanjay Ahuja, Yousif Matloub
Fanconi anemia (FA) is an autosomal recessive, progressive bone marrow failure disorder characterized by congenital defects and marked cancer predisposition. Hematopoietic stem cell transplant is the therapy of choice for FA patients with progressive pancytopenia. These patients receive multiple transfusions for cytopenias. Oxymetholone has been used with variable success to improve cytopenias. Eltrombopag has been shown to induce bilineage or trilineage hematopoiesis in aplastic anemia and patients with myelodysplastic marrow...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29666389/attenuated-dna-damage-responses-and-increased-apoptosis-characterize-human-hematopoietic-stem-cells-exposed-to-irradiation
#6
Shahar Biechonski, Leonid Olender, Adi Zipin-Roitman, Muhammad Yassin, Nasma Aqaqe, Victoria Marcu-Malina, Melanie Rall-Scharpf, Magan Trottier, M Stephen Meyn, Lisa Wiesmüller, Katia Beider, Yael Raz, Dan Grisaru, Arnon Nagler, Michael Milyavsky
Failure to precisely repair DNA damage in self-renewing Hematopoietic Stem and early Progenitor Cells (HSPCs) can disrupt normal hematopoiesis and promote leukemogenesis. Although HSPCs are widely considered a target of ionizing radiation (IR)-induced hematopoietic injury, definitive data regarding cell death, DNA repair, and genomic stability in these rare quiescent cells are scarce. We found that irradiated HSPCs, but not lineage-committed progenitors (CPs), undergo rapid ATM-dependent apoptosis, which is suppressed upon interaction with bone-marrow stroma cells...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29655841/lysosomal-acid-lipase-deficiency-allograft-recurrence-and-liver-failure-clinical-outcomes-of-18-liver-transplantation-patients
#7
REVIEW
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, Helen Remotti, Thomas Schiano, Maria Isabel Fiel, Manisha Balwani
Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation were unsuccessful at preventing multi-systemic disease progression, and were associated with significant morbidity and mortality. We report two sisters, diagnosed in infancy, who succumbed to LAL-D with accelerated disease progression following splenectomy and liver transplantation...
March 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29651604/patterns-and-frequency-of-renal-abnormalities-in-fanconi-anaemia-implications-for-long-term-management
#8
Vijaya Sathyanarayana, Beth Lee, Neville B Wright, Rui Santos, Denise Bonney, Robert Wynn, Leena Patel, Kate Chandler, Ed Cheesman, Detlev Schindler, Nicholas J A Webb, Stefan Meyer
BACKGROUND: Fanconi anaemia (FA) is an inherited disease with bone marrow failure, variable congenital and developmental abnormalities, and cancer predisposition. With improved survival, non-haematological manifestations of FA become increasingly important for long-term management. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse. METHODS: We reviewed clinical course and imaging findings of FA patients with respect to renal complications in our centre over a 25-year period to formulate some practical suggestions for guidelines for management of renal problems associated with FA...
April 12, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29625897/a-circular-rna-protects-dormant-hematopoietic-stem-cells-from-dna-sensor-cgas-mediated-exhaustion
#9
Pengyan Xia, Shuo Wang, Buqing Ye, Ying Du, Chong Li, Zhen Xiong, Yuan Qu, Zusen Fan
Disrupting the balance between self-renewal and differentiation of hematopoietic stem cells (HSCs) leads to bone marrow failure or hematologic malignancy. However, how HSCs sustain their quiescent state and avoid type I interferon (IFN)-mediated exhaustion remains elusive. Here we defined a circular RNA that we named cia-cGAS that was highly expressed in the nucleus of long-term (LT)-HSCs. Cia-cGAS deficiency in mice caused elevated expression of type I IFNs in bone marrow and led to decreased numbers of dormant LT-HSCs...
March 29, 2018: Immunity
https://www.readbyqxmd.com/read/29620682/gata2-deficiency-due-to-de-novo-complete-monoallelic-deletion-in-an-adolescent-with-myelodysplasia
#10
Donald C Vinh, Laura Palma, John Storring, William D Foulkes
GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29620681/-immune-thrombocytopenia-as-key-feature-of-a-novel-ada2-deficiency-variant-implication-on-differential-diagnostics-of-itp-in-children
#11
Mikael Sundin, Per Marits, Stefan Nierkens, Antonios G A Kolios, Jakob Nilsson
Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the majority of patients respond to immune-modulation by intravenous immunoglobulin G infusion or systemic corticosteroids. Differential diagnoses to childhood ITP includes thrombocytopenia due to infections, drugs, rheumatologic conditions, immune dysregulation, and inherited bone marrow failures, for example, congenital amegakaryocytic thrombocytopenia...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29620676/hepatitis-associated-aplastic-anemia-treated-successfully-with-antithymocyte-globulin
#12
Hongyan Ji, Li Chen, Xiaojun Sun, Xiuli Li, Wei Chen, Ping Zhao, Yulin Wang
Hepatitis-associated aplastic anemia (HAAA) is a variant of acquired aplastic anemia in which bone marrow failure follows the development of an acute episode of seronegative hepatitis. HAAA occurs most frequently in male children and is lethal if left untreated. Antilymphocyte globulin, antithymocyte globulin, and allogeneic bone marrow transplantation have been used in the treatment of this disease. In this work, we report the case of a 3-year-old boy with HAAA treated successfully with immunosuppressive therapy...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29616130/co-expression-of-atp-binding-cassette-transporters-is-associated-with-poor-prognosis-in-acute-myeloid-leukemia
#13
Bei Liu, Li-Jun Li, Xia Gong, Wei Zhang, Hui Zhang, Li Zhao
Chemotherapy failure remains a challenge when treating patients with acute myeloid leukemia (AML), who often suffer from persistent or relapsed disease. The multidrug resistance (MDR) mediated by efflux transporters of the ATP binding cassette (ABC) superfamily is a major obstacle for successful chemotherapy. The present study aimed to elucidate whether the expression of ABC transporters was associated with prognostic factors and responses to chemotherapy in patients with AML, with particular focus on whether co-expression of multiple ABC transporters resulted in a worse prognosis...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29616049/regulation-of-the-development-and-function-of-b-cells-by-zbtb-transcription-factors
#14
REVIEW
Can Zhu, Ge Chen, Ying Zhao, Xiao-Ming Gao, Jun Wang
The large ZBTB family comprises a diverse group of transcriptional factors. Several ZBTB proteins have emerged as critical factors that regulate the lineage commitment, differentiation, and function of lymphoid cells as well as many other developmental events. For instance, dysfunctions of ZBTB20 or ZBTB24 have been linked to multisystem failures in humans. Within the B-cell lineage, BCL6, ZBTB7A, ZBTB17, and ZBTB1 regulate the development/differentiation of B cells in both bone marrow and peripheral lymphoid organs, while ZBTB20 and ZBTB32 seem to mainly impact the maintenance of terminal plasma cells...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29614627/sickle-cell-disease-classification-of-clinical-complications-and-approaches-to-preventive-and-therapeutic-management
#15
Samir K Ballas
Sickle cell disease (SCD) is an inherited disorder of hemoglobin structure that has no established cure in adult patients. Cure has been achieved in selected children with sickle cell anemia (SCA) using allogeneic bone marrow transplantation or cord blood transplantation. SCD is essentially a triumvirate of (1) pain syndromes, (2) anemia and its sequelae and (3) organ failure, including infection. Pain, however, is the hallmark of SCD and dominates its clinical picture throughout the life of the patients. The prevalence of these complications varies with age from infancy through adult life...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29614393/lenalidomide-treatment-in-lower-risk-myelodysplastic-syndromes-the-experience-of-a-czech-hematology-center-positive-effect-of-erythropoietin-%C3%A2-prednisone-addition-to-lenalidomide-in-refractory-or-relapsed-patients
#16
Anna Jonasova, Radana Neuwirtova, Helena Polackova, Magda Siskova, Tomas Stopka, Eduard Cmunt, Monika Belickova, Alena Moudra, Lubomir Minarik, Ota Fuchs, Kyra Michalova, Zuzana Zemanova
Lenalidomide therapy represents meaningful progress in the treatment of anemic patients with myelodysplastic syndromes with del(5q). We present our initial lenalidomide experience and the positive effect of combining erythropoietin and steroids with lenalidomide in refractory and relapsed patients. We treated by lenalidomide 55 (42 female; 13 male; median age 69) chronically transfused lower risk MDS patients with del(5q) (45) and non-del(5q) (10). Response, meaning transfusion independence (TI) lasting ≥ eight weeks, was achieved in 38 (90%) of analyzed patients with del(5q), of whom three achieved TI only by adding erythropoietin ± prednisone...
March 27, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29608548/reassessment-of-the-risk-stratified-gd-2008-all-protocol
#17
Li-Ping Que, Ke Huang, Jian-Pei Fang, Hong-Gui Xu, Dun-Hua Zhou, Yang Li, Lv-Hong Xu, Jian Li, Hai-Lei Chen
OBJECTIVE: To explore the clinical features and outcomes of relapsed childhood acute lymphoblastic leukemia (ALL) at our center, achieve the early detection of risk factors for recurrence and assess the risk-stratified Guangdong (GD)-2008 ALL protocol. MATERIALS AND METHODS: In total, 59 Chinese childhood ALL patients treated with the GD-2008 ALL protocol who relapsed between July 2008 and March 2015 were enrolled in this study. Their clinical features and outcomes were retrospectively analyzed and compared with those of 218 patients who achieved continuous complete remission...
March 30, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29602612/to-chelate-or-not-to-chelate-in-mds-that-is-the-question
#18
REVIEW
Amer M Zeidan, Elizabeth A Griffiths
Myelodysplastic syndromes (MDS) are a heterogeneous group of hemopathies that exhibit physical manifestations with clinical consequences of bone marrow failure and inherent risk of progression to acute myeloid leukemia. Iron overload (IO) is common in MDS due to chronic transfusion support and disease-related alterations in iron metabolism. IO has been conclusively associated with inferior outcomes among MDS patients. Despite lack of randomized trials showing a survival impact of iron chelation therapy (ICT), ICT is recommended by experts and guidelines for select MDS patients with IO and is often used...
March 8, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29599205/recurring-mutations-in-rpl15-are-linked-to-hydrops-fetalis-and-treatment-independence-in-diamond-blackfan-anemia
#19
Marcin W Wlodarski, Lydie Da Costa, Marie-Françoise O'Donohue, Marc Gastou, Narjesse Karboul, Nathalie Montel-Lehry, Ina Hainman, Dominika Danda, Amina Szvetnik, Victor Pastor, Nahuel Paolini, Franca M di Summa, Hannah Tamary, Abed Abu Quider, Anna Aspesi, Riekelt H Houtkooper, Thierry LeBlanc, Charlotte Niemeyer, Pierre-Emmanuel Gleizes, Alyson W MacInnes
Diamond-Blackfan anemia is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. The European DBA consortium reports here novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with Diamond-Blackfan anemia. Although point mutations have not been previously reported for RPL15, we identified 4 individuals with truncating mutations p.Tyr81* (in 3/4) and p.Gln29*, and 2 with missense variants p.Leu10Pro and p.Lys153Thr. Notably, 75% (3/4) of truncating mutation carriers manifested with severe hydrops fetalis and required intrauterine transfusions...
March 29, 2018: Haematologica
https://www.readbyqxmd.com/read/29596882/swi-snf-subunit-expression-heterogeneity-in-human-aplastic-anemia-stem-progenitors
#20
Sayantani Sinha, Shankha Subhra Chatterjee, Mayukh Biswas, Arijit Nag, Debasis Banerjee, Rajib De, Amitava Sengupta
Acquired aplastic anemia (AA) is a bone marrow failure that is associated with auto-immune destruction of hematopoietic stem cells (HSCs). Although somatic mutations have been identified in AA patients, mutations alone would not suffice understanding AA pathophysiology. SWI/SNF is an evolutionarily conserved, multi-subunit, ATP-dependent chromatin remodeling protein complex that plays important role in mammalian hematopoiesis. Herein, gene expression analysis identified a significant loss of SWI/SNF core component SMARCC1 along with ARID1B, ACTL6A and SMARCD1 in human AA bone marrow CD34+ HSC and progenitors (HSPCs) compared to normal HSPCs...
March 26, 2018: Experimental Hematology
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