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Bone Marrow Failure

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https://www.readbyqxmd.com/read/29439187/lethal-neonatal-bone-marrow-failure-syndrome-with-multiple-congenital-abnormalities-including-limb-defects-due-to-a-constitutional-deletion-of-3-mecom
#1
Lars T van der Veken, Merel C Maiburg, Floris Groenendaal, Mariëlle E van Gijn, Andries C Bloem, Claudia Erpelinck, Stefan Gröschel, Mathijs A Sanders, Ruud Delwel, Marc B Bierings, Arjan Buijs
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February 8, 2018: Haematologica
https://www.readbyqxmd.com/read/29434729/a-composite-mouse-model-of-aplastic-anemia-complicated-with-iron-overload
#2
Dijiong Wu, Xiaowen Wen, Wenbin Liu, Linlong Xu, Baodong Ye, Yuhong Zhou
Iron overload is commonly encountered during the course of aplastic anemia (AA), but no composite animal model has been developed yet, which hinders drug research. In the present study, the optimal dosage and duration of intraperitoneal iron dextran injection for the development of an iron overload model in mice were explored. A composite model of AA was successfully established on the principle of immune-mediated bone marrow failure. Liver volume, peripheral hemogram, bone marrow pathology, serum iron, serum ferritin, pathological iron deposition in multiple organs (liver, bone marrow, spleen), liver hepcidin, and bone morphogenetic protein 6 (BMP6), SMAD family member 4 (SMAD4) and transferrin receptor 2 (TfR2) mRNA expression levels were compared among the normal control, AA, iron overload and composite model groups to validate the composite model, and explore the pathogenesis and features of iron overload in this model...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29427417/-tp53-haploinsufficiency-rescues-emergency-granulopoiesis-in-fancc-mice
#3
Liping Hu, Weiqi Huang, Ling Bei, Larisa Broglie, Elizabeth A Eklund
Emergency (stress) granulopoiesis is an episodic process for the production of granulocytes in response to infectious challenge. We previously determined that Fanconi C, a component of the Fanconi DNA-repair pathway, is necessary for successful emergency granulopoiesis. Fanconi anemia results from mutation of any gene in this pathway and is characterized by bone marrow failure (BMF) in childhood and clonal progression in adolescence. Although murine Fanconi anemia models exhibit relatively normal steady-state hematopoiesis, FANCC -/-mice are unable to mount an emergency granulopoiesis response...
February 2, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29416752/fanconi-anemia-germline-variants-as-susceptibility-factors-in-aplastic-anemia-mds-and-aml
#4
Bartlomiej Przychodzen, Hideki Makishima, Mikkael A Sekeres, Suresh Kumar Balasubramanian, Swapna Thota, Bhumika J Patel, Michael Clemente, Cassandra Hirsch, Brittney Dienes, Jaroslaw P Maciejewski
Using next generation sequencing we have systematically analyzed a large cohort of 489 patients with bone marrow failure (BMF), including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), aplastic anemia (AA), and related conditions for the presence of germline (GL) alterations in Fanconi Anemia (FA) and telomerase genes. We have detected an increased frequency of heterozygous FA gene mutations in MDS and to lesser degree in AML suggesting that the presence of one normal allele may not be completely protective and indeed heterozygous FA lesions may have a long latency period before hematologic manifestation...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29412158/allogeneic-hematopoietic-stem-cell-transplantation-for-gata2-deficiency-using-a-busulfan-based-regimen
#5
Mark Parta, Nirali N Shah, Kristin Baird, Hind Rafei, Katherine R Calvo, Thomas Hughes, Kristen Cole, Meg Kenyon, Bazetta Blacklock Schuver, Jennifer Cuellar-Rodriguez, Christa S Zerbe, Steven M Holland, Dennis D Hickstein
Allogeneic hematopoietic stem cell transplantation (HSCT) reverses the bone marrow failure syndrome due to GATA2 deficiency. The intensity of conditioning required to achieve reliable engraftment and prevent relapse remains unclear. Here, we describe the results of a prospective study of HSCT in 22 patients with GATA2 deficiency using a busulfan-based conditioning regimen. The study includes 2 matched related donor (MRD) recipients, 13 matched unrelated donor (URD) recipients, and 7 haploidentical related donor (HRD) recipients...
February 2, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29409540/mesenchymal-stromal-cell-derived-exosome-rich-fractionated-secretome-confers-a-hepatoprotective-effect-in-liver-injury
#6
Apeksha Damania, Deepika Jaiman, Arun Kumar Teotia, Ashok Kumar
BACKGROUND: Mesenchymal stromal cells (MSCs) are an attractive therapeutic agent in regenerative medicine. Recently, there has been a paradigm shift from differentiation of MSCs to their paracrine effects at the injury site. Several reports elucidate the role of trophic factors secreted by MSCs toward the repair of injured tissues. We hypothesize that fractionating the MSC secretome will enrich exosomes containing soluble bioactive molecules, improving its therapeutic potential for liver failure...
February 6, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29409376/suitability-of-a-plcl-fibrous-scaffold-for-soft-tissue-engineering-applications-a-combined-biological-and-mechanical-characterisation
#7
Cédric P Laurent, Cédryck Vaquette, Xing Liu, Jean-François Schmitt, Rachid Rahouadj
Poly(lactide-co-ε-caprolactone) (PLCL) has been reported to be a good candidate for tissue engineering because of its good biocompatibility. Particularly, a braided PLCL scaffold (PLL/PCL ratio = 85/15) has been recently designed and partially validated for ligament tissue engineering. In the present study, we assessed the in vivo biocompatibility of acellular and cellularised scaffolds in a rat model. We then determined its in vitro biocompatibility using stem cells issued from both bone marrow and Wharton Jelly...
January 1, 2018: Journal of Biomaterials Applications
https://www.readbyqxmd.com/read/29408330/new-human-combined-immunodeficiency-due-to-irf4-deficiency-inherited-by-uniparental-isodisomy
#8
María Bravo García-Morato, Francisco Javier Aracil Santos, Alejandro Contreras Briones, Alfonso Blázquez Moreno, Ángela Del Pozo Maté, Ángeles Domínguez-Soto, María José Beato Merino, Lucía Del Pino Molina, Juan Torres Canizales, Ana Victoria Marin, Elena Vallespín García, Marta Feito Rodríguez, Diego Plaza López Sabando, Anaïs Jiménez-Reinoso, Yasmina Mozo Del Castillo, Francisco José Sanz Santaeufemia, Raúl de Lucas-Laguna, Paula Cárdenas, Laura Casamayor Polo, María Coronel Díaz, Mar Valés-Gómez, Ernesto Roldán Santiago, Antonio Ferreira Cerdán, Julián Nevado Blanco, Ángel L Corbí, Hugh T Reyburn, José Ramón Regueiro, Eduardo López-Granados, Rebeca Rodríguez Pena
BACKGROUND: Interferon regulatory factor 4 (IRF4) is a fundamental transcription factor in adaptive and innate immunity, due to its key role in the differentiation and functional specialization of lymphoid and myeloid lineage cells. In mouse models, IRF4 participates in bone marrow central tolerance, naïve B cell activation, germinal centre formation, plasma cell differentiation, immunoglobulin secretion, T helper subset differentiation, macrophage polarization, and dendritic cell differentiation, among other processes...
February 2, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29405072/current-status-of-stem-cells-in-cardiac-repair
#9
Robert J Henning
One out of every two men and one out of every three women greater than the age of 40 will experience an acute myocardial infarction (AMI) at some time during their lifetime. As more patients survive their AMIs, the incidence of congestive heart failure (CHF) is increasing. 6 million people in the USA have ischemic cardiomyopathies and CHF. The search for new and innovative treatments for patients with AMI and CHF has led to investigations and use of human embryonic stem cells, cardiac stem/progenitor cells, bone marrow-derived mononuclear cells and mesenchymal stem cells for treatment of these heart conditions...
February 6, 2018: Future Cardiology
https://www.readbyqxmd.com/read/29399332/recent-advances-in-understanding-hematopoiesis-in-fanconi-anemia
#10
REVIEW
Grover Bagby
Fanconi anemia is an inherited disease characterized by genomic instability, hypersensitivity to DNA cross-linking agents, bone marrow failure, short stature, skeletal abnormalities, and a high relative risk of myeloid leukemia and epithelial malignancies. The 21 Fanconi anemia genes encode proteins involved in multiple nuclear biochemical pathways that effect DNA interstrand crosslink repair. In the past, bone marrow failure was attributed solely to the failure of stem cells to repair DNA. Recently, non-canonical functions of many of the Fanconi anemia proteins have been described, including modulating responses to oxidative stress, viral infection, and inflammation as well as facilitating mitophagic responses and enhancing signals that promote stem cell function and survival...
2018: F1000Research
https://www.readbyqxmd.com/read/29398271/tread-carefully-a-functional-variant-in-the-human-nadph-oxidase-4-nox4-is-not-disease-causing
#11
Michael Nafisinia, Minal Juliet Menezes, Wendy Anne Gold, Lisa Riley, Joshua Hatch, John Cardinal, David Coman, John Christodoulou
In this study, we report a paediatric patient with a lethal phenotype of respiratory distress, failure to thrive, pancreatic insufficiency, liver dysfunction, hypertrophic cardiomyopathy, bone marrow suppression, humoral and cellular immune deficiency. To identify the genetic basis of this unusual clinical phenotype and potentially make available the option of future prenatal testing, whole exome sequencing (WES) was used followed by functional studies in a bid to confirm pathogenicity. The WES we identified a homozygous novel variant, AK298328; c...
February 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29395255/lessons-learned-from-bone-marrow-failure-in-systemic-lupus-erythematosus-case-reports-and-review-of-the-literature
#12
Erik Anderson, Bhakti Shah, Anne Davidson, Richard Furie
OBJECTIVE: In the present review, four new cases of bone marrow failure are presented and the potential contribution of systemic lupus erythematosus (SLE) is discussed. Furthermore, a comprehensive literature review of cases of autoimmune myelofibrosis (AIMF), aplastic anemia (AA), and paroxysmal nocturnal hemoglobinuria (PNH) with concurrent SLE aims to allow their direct comparison. Based on a clearer characterization of reported cases and our own experience, diagnostic and therapeutic strategies of these disorders in SLE are proposed based on lessons learned from the present and previous cases...
December 8, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29391303/liver-fibrosis
#13
REVIEW
M Merve Aydın, Kamil Can Akçalı
Liver fibrosis is a wound-healing response generated against an insult to the liver that causes liver injury. It has the potential to progress into cirrhosis, and if not prevented, it may lead to liver cancer and liver failure. The activation of hepatic stellate cells (HSCs) is the central event underlying liver fibrosis. In addition to HSCs, numerous studies have supported the potential contribution of bone marrow-derived cells and myofibroblasts to liver fibrosis. The liver is a heterogeneous organ; thus, molecular and cellular events that underlie liver fibrogenesis are complex...
January 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29390386/hemophagocytic-lymphohistiocytosis-in-an-adult-kidney-transplant-recipient-successfully-treated-by-plasmapheresis-a-case-report-and-review-of-the-literature
#14
Christian Nusshag, Christian Morath, Martin Zeier, Markus A Weigand, Uta Merle, Thorsten Brenner
RATIONALE: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease entity primarily described in children, but not less relevant in adults. It is characterized by a misdirected activation of the immune system, resulting in an uncontrolled cytokine release from macrophages and cytotoxic T-cells (CTLs). Primary HLH relies on a genetic predisposition, whereas secondary HLH develops in the context of infections, malignancies or autoimmune diseases. However, the awareness and therapeutic knowledge for HLH in adulthood is limited...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29390336/hemophagocytic-lymphohistiocytosis-complicated-by-multiorgan-failure-a-case-report
#15
Federica Lovisari, Valeria Terzi, Monica G Lippi, Paolo R Brioschi, Roberto Fumagalli
RATIONALE: We present a case of hemophagocytic lymphohistiocytosis (HLH) with severe pulmonary complication and acute respiratory distress syndrome (ARDS) hospitalized in our intensive care unit (ICU) in 2014; distinctive trait of this case has been the challenging diagnosis, with a bone marrow biopsy always negative, the severe pulmonary complication with ARDS and severe pulmonary hypertension, and the ferritin temporal kinetics that precisely followed the clinical course of disease...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29384906/a-rare-case-report-of-multiple-myeloma-presenting-with-paralytic-ileus-and-type-ii-respiratory-failure-due-to-hypercalcemic-crisis
#16
Yuchen Guo, Liang He, Yiming Liu, Xueyuan Cao
RATIONALE: Paralytic ileus is characterized by the signs and symptoms of intestinal obstruction but without any mechanical lesions in the intestinal lumen. Several medical and surgical conditions can lead to this ailment, such as electrolyte disturbances that impair intestinal motility. However, hypercalcemia secondary to multiple myeloma as a major cause of paralytic ileus has rarely been reported. PATIENT CONCERNS: The patient got severe constipation with difficulty in the passage of both gas and feces for 7 days...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29383624/effects-of-eculizumab-treatment-on-quality-of-life-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-in-japan
#17
Yasutaka Ueda, Naoshi Obara, Yuji Yonemura, Hideyoshi Noji, Masayoshi Masuko, Yoshinobu Seki, Katsuya Wada, Takahisa Matsuda, Hirozumi Akiyama, Takayuki Ikezoe, Shigeru Chiba, Yoshinobu Kanda, Tatsuya Kawaguchi, Tsutomu Shichishima, Hideki Nakakuma, Shinichiro Okamoto, Jun-Ichi Nishimura, Yuzuru Kanakura, Haruhiko Ninomiya
In paroxysmal nocturnal hemoglobinuria (PNH), various symptoms due to intravascular hemolysis exert a negative impact on patients' quality of life (QOL). To determine clinical factors related with improvements in QOL in PNH patients treated, we analyzed changes in QOL scales in PNH patients treated with eculizumab based on data collected from post-marketing surveillance in Japan. Summary statistics were obtained using figures from QOL scoring systems and laboratory values, and evaluated by t test. One-year administration of eculizumab improved the most QOL items in comparison with the baseline...
January 30, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29383307/colonic-angioectasia-in-an-adolescent-boy-with-hoyeraal-hreidarsson-on-long-term-anabolic-steroid-therapy
#18
Racha Khalaf, Carmen Cuffari
Androgen therapy has proven efficacy in treating patients with bone marrow failure who are not candidates for bone marrow transplantation. Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarsson syndrome (HHS). A 13-year-old Caucasian male with HHS characterized by cerebellar hypoplasia, developmental delay, microcephaly, esophageal strictures and myelodysplasia presented with severe hematochezia from colonic angioectasia secondary to long-term oxymetholone therapy...
January 2018: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29382715/stat3-and-ccaat-enhancer-binding-protein-%C3%AE-c-ebp%C3%AE-activate-fanconi-c-gene-transcription-during-emergency-granulopoiesis
#19
Chirag A Shah, Larisa Broglie, Liping Hu, Ling Bei, Weiqi Huang, Danielle B Dressler, Elizabeth A Eklund
Interferon consensus sequence-binding protein (Icsbp) is required for terminating emergency granulopoiesis, an episodic event responsible for granulocyte production in response to infections and a key component of the innate immune response. Icsbp inhibits expression of Stat3 and C/ebpβ, transcription factors essential for initiating and sustaining granulopoiesis, and activates transcription of Fanconi C (FANCC); a DNA repair protein. In prior studies, we noted accelerated bone marrow failure in Fancc-/- mice undergoing multiple episodes of emergency granulopoiesis, associated with apoptosis of bone marrow cells with unrepaired DNA damage...
January 30, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29382661/definition-of-iron-deficiency-based-on-the-gold-standard-of-bone-marrow-iron-staining-in-heart-failure-patients
#20
Niels Grote Beverborg, IJsbrand T Klip, Wouter C Meijers, Adriaan A Voors, Eline L Vegter, Haye H van der Wal, Dorine W Swinkels, Joost van Pelt, Andre B Mulder, Sjoerd K Bulstra, Edo Vellenga, Massimo A Mariani, Rudolf A de Boer, Dirk J van Veldhuisen, Peter van der Meer
BACKGROUND: The most commonly used definition of iron deficiency (ID; ferritin <100 ng/mL or ferritin 100-300 ng/mL and transferrin saturation [TSAT] <20%) has not been validated in patients with heart failure (HF). We aimed to define and validate the biomarker-based definition of ID in HF, using bone marrow iron staining as the gold standard. Second, we aimed to assess the prognostic value of the optimized definition. METHODS AND RESULTS: Bone marrow aspiration with iron staining was performed in 42 patients with HF and a reduced left ventricular ejection fraction (≤45%) undergoing median sternotomy for coronary artery bypass grafting...
February 2018: Circulation. Heart Failure
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