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Bone Marrow Failure

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https://www.readbyqxmd.com/read/29930218/fanconi-anemia-complementation-group-c-protein-in-metabolic-disorders
#1
Manoj Nepal, Chi Ma, Guoxiang Xie, Wei Jia, Peiwen Fei
Given importance of 22-Fanconi Anemia (FA) proteins together to act in a signaling pathway in preventing deleterious clinical symptoms, e.g. severe bone marrow failure, congenital defects, an early onset of aging and cancer, studies on each FA protein become increasingly attractive. However, an unbiased and systematic investigation of cellular effects resulting from each FA protein is missing. Here, we report roles of FA complementation C group protein (FANCC) in the protection from metabolic disorders. This study was prompted by the diabetes-prone feature displayed in FANCC knockout mice, which is not typically shown in patients with FA...
June 21, 2018: Aging
https://www.readbyqxmd.com/read/29925726/methotrexate-associated-lymphoproliferative-disorder-complicated-by-severe-acute-respiratory-failure-and-ileal-perforation-a-case-report
#2
Eiji Suzuki, Takashi Kanno, Satoru Kimura, Takumi Irie, Hajime Odajima, Kiyoshi Migita
Lymphoproliferative disorder (LPD) is a potentially severe adverse effect of methotrexate (MTX) administration in patients with rheumatoid arthritis (RA). We report a case of MTX-associated LPD (MTX-LPD) in a patient with RA who developed severe pulmonary failure complicated by perforation of the terminal ileum. A 61-year-old woman with RA receiving MTX complained of dyspnea and abdominal pain. She was diagnosed with intestinal perforation and peritonitis, and underwent immediate abdominal surgery. Pathological examinations of the specimen obtained from the resected ileum and a bone marrow aspirate revealed diffuse large B-cell lymphoma...
June 19, 2018: Fukushima Journal of Medical Science
https://www.readbyqxmd.com/read/29922597/recent-advances-in-replication-and-infection-of-human-parvovirus-b19
#3
REVIEW
Safder S Ganaie, Jianming Qiu
Parvovirus B19 (B19V) is pathogenic to humans and causes bone marrow failure diseases and various other inflammatory disorders. B19V infection exhibits high tropism for human erythroid progenitor cells (EPCs) in the bone marrow and fetal liver. The exclusive restriction of B19V replication to erythroid lineage cells is partly due to the expression of receptor and co-receptor(s) on the cell surface of human EPCs and partly depends on the intracellular factors essential for virus replication. We first summarize the latest developments in the viral entry process and the host cellular factors or pathways critical for B19V replication...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29922180/increased-reactive-oxygen-species-and-cell-cycle-defects-contribute-to-anemia-in-the-rasa3-mutant-mouse-model-s-cat
#4
Emily S Hartman, Elena C Brindley, Julien Papoin, Steven L Ciciotte, Yue Zhao, Luanne L Peters, Lionel Blanc
RASA3 is a Ras GTPase activating protein that plays a critical role in blood formation. The autosomal recessive mouse model scat (severe combined anemia and thrombocytopenia) carries a missense mutation in Rasa3 . Homozygotes present with a phenotype characteristic of bone marrow failure that is accompanied by alternating episodes of crisis and remission. The mechanism leading to impaired erythropoiesis and peripheral cell destruction as evidenced by membrane fragmentation in scat is unclear, although we previously reported that the mislocalization of RASA3 to the cytosol of reticulocytes and mature red cells plays a role in the disease...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29915352/the-wave2-scaffold-hem-1-is-required-for-transition-of-fetal-liver-hematopoiesis-to-bone-marrow
#5
Lijian Shao, Jianhui Chang, Wei Feng, Xiaoyan Wang, Elizabeth A Williamson, Ying Li, Amir Schajnovitz, David Scadden, Luke J Mortensen, Charles P Lin, Linheng Li, Ariel Paulson, James Downing, Daohong Zhou, Robert A Hromas
The transition of hematopoiesis from the fetal liver (FL) to the bone marrow (BM) is incompletely characterized. We demonstrate that the Wiskott-Aldrich syndrome verprolin-homologous protein (WAVE) complex 2 is required for this transition, as complex degradation via deletion of its scaffold Hem-1 causes the premature exhaustion of neonatal BM hematopoietic stem cells (HSCs). This exhaustion of BM HSC is due to the failure of BM engraftment of Hem-1-/- FL HSCs, causing early death. The Hem-1-/- FL HSC engraftment defect is not due to the lack of the canonical function of the WAVE2 complex, the regulation of actin polymerization, because FL HSCs from Hem-1-/- mice exhibit no defects in chemotaxis, BM homing, or adhesion...
June 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29914726/interobserver-concordance-of-assessments-of-dysplasia-and-blast-counts-for-the-diagnosis-of-patients-with-cytopenia-from-the-japanese-central-review-study
#6
Akira Matsuda, Hiroshi Kawabata, Kaoru Tohyama, Tomoya Maeda, Kayano Araseki, Tomoko Hata, Takahiro Suzuki, Hidekazu Kayano, Kei Shimbo, Kensuke Usuki, Shigeru Chiba, Takayuki Ishikawa, Nobuyoshi Arima, Masaharu Nohgawa, Akiko Ohta, Yasushi Miyazaki, Sinnji Nakao, Keiya Ozawa, Shunya Arai, Mineo Kurokawa, Kinuko Mitani, Akifumi Takaori-Kondo
The diagnosis of myelodysplastic syndromes (MDS) is based on morphology and cytogenetics. However, limited information is currently available on the interobserver concordance of the assessment of dysplastic lineages (<10% or ≥10% in bone marrow (BM)). The revised International Prognostic Scoring System (IPSS-R) described a new threshold (2%) for BM blasts. However, the interobserver concordance of the categories (0-≤2% and >2-<5%) has limited data. The purpose of the present study was to investigate the assessment of dysplastic lineages and IPSS-R reproducibility...
June 7, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29909072/bone-marrow-derived-inflammatory-and-steady-state-dcs-are-different-in-both-functions-and-survival
#7
Wenjie Zhang, Ying Ding, Li Sun, Qing Hong, Yumei Sun, Liangliang Han, Mengting Zi, Yuekang Xu
Dendritic cells (DCs) contain heterogeneous populations, with classical DCs developed at steady state and monocyte-derived DCs mobilized under inflammatory conditions, although their total numbers in vivo are scares. To obtain enough quantity for immunological study or clinical application, we have previously established that bone marrow-derived DCs in the presence of Flt-3L (FL-DCs) or GM-CSF (GM-DCs) in vitro are equivalent to the steady state DCs and inflammatory DCs in vivo respectively. What difference, however, exists between these two most commonly used culture systems in DC functions and survival, and how does it correlate to the division of works by their corresponding counterparts in vivo remain ill-defined...
June 7, 2018: Cellular Immunology
https://www.readbyqxmd.com/read/29904307/disseminated-infection-to-immune-activation
#8
Jill Yeager, Barbara Krenzer
A 61-year-old woman with rheumatoid arthritis on chronic immunosuppression presented with fever. Laboratory studies demonstrated multiorgan failure with pancytopenia, elevation in liver function studies, and an elevated ferritin level, with a diagnosis of hemophagocytic lymphohistiocytosis confirmed on bone marrow biopsy. After initial treatment with chemotherapy, fungal blood cultures grew Histoplasma , prompting initiation of antifungal therapy, which resulted in successful treatment of Histoplasma -associated hemophagocytic lymphohistiocytosis...
July 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29895858/a-homozygous-fancm-frameshift-pathogenic-variant-causes-male-infertility
#9
Hao Yin, Hui Ma, Sajjad Hussain, Huan Zhang, Xuefeng Xie, Long Jiang, Xiaohua Jiang, Furhan Iqbal, Ihtisham Bukhari, Hanwei Jiang, Asim Ali, Liangwen Zhong, Tao Li, Suixing Fan, Beibei Zhang, Jianing Gao, Yang Li, Jabeen Nazish, Teka Khan, Manan Khan, Muhammad Zubair, Qiaomei Hao, Hui Fang, Jun Huang, Mahmoud Huleihel, Jiahao Sha, Tej K Pandita, Yuanwei Zhang, Qinghua Shi
PURPOSE: Fanconi anemia (FA) genes play important roles in spermatogenesis. In mice, disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM pathogenic variants (PV) similarly affect fertility in men is unknown. Here we characterize a Pakistani family having three infertile brothers, two manifesting oligoasthenospermia and one exhibiting azoospermia, born to first-cousin parents. A homozygous PV in FANCM (c.1946_1958del, p.P648Lfs*16) was found cosegregating with male infertility...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29895435/extramedullary-relapse-and-discordant-cd19-expression-between-bone-marrow-and-extramedullary-sites-in-relapsed-acute-lymphoblastic-leukemia-after-blinatumomab-treatment
#10
Christos Demosthenous, Chrysavgi Lalayanni, Michalis Iskas, Vassiliki Douka, Nikoleta Pastelli, Achilles Anagnostopoulos
Blinatumomab, a bispecific T-cell engager antibody construct targeting CD19, has been shown to improve the outcome in patients with relapsed and/or refractory B-cell acute lymphoblastic leukemia. Treatment with blinatumomab demonstrated significant survival benefit over chemotherapy, supporting its use as a bridge therapy to allogeneic hematopoietic stem cell transplantation. Unfortunately, following initial response, approximately 50% of responding patients eventually relapse. At the time of failure, the majority of patients have CD19-positive blasts, yet a concerning number of CD19-negative relapses has been reported...
May 7, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29892551/delayed-diagnosis-of-shwachman-diamond-syndrome-with-short-telomeres-and-a-review-of-cases-in-asia
#11
Shin Yeu Ong, Shao-Tzu Li, Gee Chuan Wong, Aloysius Yew Leng Ho, Chandramouli Nagarajan, Joanne Ngeow
Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies...
2018: Leukemia Research Reports
https://www.readbyqxmd.com/read/29891926/map-of-synthetic-rescue-interactions-for-the-fanconi-anemia-dna-repair-pathway-identifies-usp48
#12
Georgia Velimezi, Lydia Robinson-Garcia, Francisco Muñoz-Martínez, Wouter W Wiegant, Joana Ferreira da Silva, Michel Owusu, Martin Moder, Marc Wiedner, Sara Brin Rosenthal, Kathleen M Fisch, Jason Moffat, Jörg Menche, Haico van Attikum, Stephen P Jackson, Joanna I Loizou
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia (FA) is a rare disease characterized by bone marrow failure, developmental abnormalities, and increased cancer risk that is caused by defective repair of DNA interstrand crosslinks (ICLs). Here, we identify the deubiquitylating enzyme USP48 as synthetic viable for FA-gene deficiencies by performing genome-wide loss-of-function screens across a panel of human haploid isogenic FA-defective cells (FANCA, FANCC, FANCG, FANCI, FANCD2)...
June 11, 2018: Nature Communications
https://www.readbyqxmd.com/read/29887474/bone-marrow-derived-mononuclear-cell-seeded-bioresorbable-vascular-graft-improves-acute-graft-patency-by-inhibiting-thrombus-formation-via-platelet-adhesion
#13
Hideki Miyachi, James W Reinhardt, Satoru Otsuru, Shuhei Tara, Hidetaka Nakayama, Tai Yi, Yong-Ung Lee, Shinka Miyamoto, Toshihiro Shoji, Tadahisa Sugiura, Christopher K Breuer, Toshiharu Shinoka
BACKGROUND: Acute thrombosis is a crucial cause of bioresorbable vascular graft (BVG) failure. Bone marrow-derived mononuclear cell (BM-MNC)-seeded BVGs demonstrated high graft patency, however, the effect of seeded BM-MNCs against thrombosis remains to be elucidated. Thus, we evaluated an antithrombotic effect of BM-MNC-seeding and utilized platelet-depletion mouse models to evaluate the contribution of platelets to acute thrombosis of BVGs. METHODS AND RESULTS: BVGs were composed of poly(glycolic acid) mesh sealed with poly(l-lactideco-ε-caprolactone)...
September 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29886847/cytomegalovirus-reactivation-in-a-critically-ill-patient-a-case-report
#14
Demet Demirkol, Umay Kavgacı, Burcu Babaoğlu, Serhan Tanju, Banu Oflaz Sözmen, Suda Tekin
BACKGROUND: The aim of this case report is to discuss diagnostic workup and clinical management of cytomegalovirus reactivation in a critically ill immunocompetent pediatric patient. CASE PRESENTATION: A 2-year-old white boy who had no medical history presented with respiratory distress and fever. His Pediatric Risk of Mortality and Pediatric Logistic Organ Dysfunction scores were 20 and 11, respectively. Our preliminary diagnosis was multiple organ dysfunction secondary to sepsis...
June 11, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29885000/pancreatic-lipomatosis-in-diamond-blackfan-anemia-the-importance-of-genetic-testing-in-bone-marrow-failure-disorders
#15
John M Gansner, Elissa Furutani, Dean R Campagna, Mark D Fleming, Akiko Shimamura
No abstract text is available yet for this article.
June 8, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29880812/hur-regulates-telomerase-activity-through-terc-methylation
#16
Hao Tang, Hu Wang, Xiaolei Cheng, Xiuqin Fan, Fan Yang, Mengmeng Zhang, Yanlian Chen, Yuyang Tian, Cihang Liu, Dongxing Shao, Bin Jiang, Yali Dou, Yusheng Cong, Junyue Xing, Xiaotian Zhang, Xia Yi, Zhou Songyang, Wenbin Ma, Yong Zhao, Xian Wang, Jinbiao Ma, Myriam Gorospe, Zhenyu Ju, Wengong Wang
Telomerase consists of the catalytic protein TERT and the RNA TERC. Mutations in TERC are linked to human diseases, but the underlying mechanisms are poorly understood. Here we report that the RNA-binding protein HuR associates with TERC and promotes the assembly of the TERC/TERT complex by facilitating TERC C106 methylation. Dyskeratosis congenita (DC)-related TERC U100A mutation impair the association of HuR with TERC, thereby reducing C106 methylation. Two other TERC mutations linked to aplastic anemia and autosomal dominant DC, G107U, and GC107/108AG, likewise disrupt methylation at C106...
June 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/29880247/development-and-current-use-of-in-hematopoietic-stem-cell-transplantation-in-children-and-adolescents-in-poland-report-of-the-polish-pediatric-study-group-for-hematopoietic-stem-cell-transplantation-of-the-polish-society-for-pediatric-oncology-and-hematology
#17
REVIEW
Jacek Wachowiak, Alicja Chybicka, Jerzy R Kowalczyk, Mariusz Wysocki, Jolanta Goździk, Ewa Gorczyńska, Krzysztof Kałwak, Jan Styczyński, Katarzyna Drabko, Anna Pieczonka
The purpose of the survey was to evaluate the development and current use of hematopoietic stem cell transplantation (HSCT) in Poland between 1989-2016. The data for analysis (indication, number of performed HSCT, HSCT type, donor type, and stem cell source, year) have been collected annually using a standardized form. In Poland, between 1989-2016, the number of pediatric transplant beds grew from one to 40 and number and rate of transplants increased annually from 1/year (0.8/10 million) to 186/year (248/10 million)...
May 16, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29880053/indications-and-complications-of-inpatient-parenteral-nutrition-prescribed-to-children-in-a-large-tertiary-referral-hospital
#18
C Mantegazza, N Landy, G V Zuccotti, J Köglmeier
BACKGROUND: Parenteral Nutrition (PN) is prescribed to children with intestinal failure. Although life saving, complications are common. Recommendations for indications and constituents of PN are made in the 2005 guidelines by the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN). The aim of this study was to establish if the indications for prescribing PN in a tertiary children's hospital were appropriate, and to identify complications encountered. Data were compared to those published by the National Confidential Enquiry into patient outcome and death (NCEPOD) carried out in the United Kingdom in 2010...
June 8, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29879038/congenital-intestinal-atresias-with-multiple-episodes-of-sepsis-a-case-report-and-review-of-literature
#19
Natalia Mandiá, Alejandro Pérez-Muñuzuri, Olalla López-Suárez, Carolina López-Sanguos, Adolfo Bautista-Casanovas, Mariá-Luz Couce
INTRODUCTION: Hereditary multiple intestinal atresia associated with severe combined immunodeficiency (MIA-SCID) is a very rare disease caused by deleterious mutations in the tetratricopeptide repeat domain-containing protein 7A gene TTC7A. It is characterized by intestinal obstruction, sepsis, and a poor prognosis. Insights into phenotype-genotype correlations could help to guide genetic counseling and increase our knowledge of the natural history of this disease. CASE PRESENTATION: We report the case of a newborn in which his fetal magnetic resonance imaging showed jejunal atresia and microcolon and an abdominal x-ray at birth confirmed intestinal obstruction...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29877234/-successful-treatment-of-secondary-graft-failure-in-a-mixed-phenotype-acute-leukemia-patient-with-haploidentical-hematopoietic-stem-cell-transplantation-and-post-transplant-cyclophosphamide-administration
#20
Oju Katayama, Shuhei Honda, Natsumi Yoshida, Kentaro Nagamatsu, Kuniko Takano, Rie Kawano, Masao Ogata, Kuniaki Shirao
A 38-year-old woman in the first remission of mixed-phenotype acute leukemia underwent unrelated bone marrow transplantation from an HLA-DR-mismatched donor in the host-versus-graft (HVG) direction with myeloablative conditioning. Neutrophil engraftment was achieved and complete donor chimera was obtained on days 21 and 29 after transplantation, respectively. Subsequently, with delayed blood cell recovery, continuous transfusion was needed to replace platelets. In the CD3 peripheral blood chimerism test, the percentage of recipient cells on days 50, 63, and 80 was 27...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
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