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https://www.readbyqxmd.com/read/29305416/involvement-of-hepcidin-in-iron-metabolism-dysregulation-in-gaucher-disease
#1
Thibaud Lefebvre, Niloofar Reihani, Raed Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim
Gaucher disease is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow. The resulting lipid-laden macrophages lead to the appearance of Gaucher cells. Anemia associated with an unexplained hyperferritinemia is a frequent finding in Gaucher disease, but whether this pathogenesis is related to an iron metabolism disorder has remained unclear. To investigate this issue, we explored the iron status of a large cohort of 90 type I Gaucher disease patients, including 66 patients treated with enzyme replacement therapy...
January 5, 2018: Haematologica
https://www.readbyqxmd.com/read/29286581/bone-marrow-features-in-pearson-syndrome-with-neonatal-onset-a-case-report-and-review-of-the-literature
#2
Elisa Tadiotto, Evelina Maines, Daniela Degani, Rita Balter, Andrea Bordugo, Simone Cesaro
Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features...
December 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29249231/hemoglobinuric-acute-kidney-injury-in-a-patient-with-a-kinked-prosthetic-aortic-graft%C3%A2
#3
Hema V Sheelvanth, Khaleel A Sayeed, William A Whittier
Acute kidney injury (AKI) due to intravascular hemolysis has been well described in paroxysmal nocturnal hemoglobinuria (PNH) and in cardiac valvular dysfunction. However, reported cases of hemoglobinuric AKI from prosthetic aortic grafts are sparse. We present a case of microangiopathic hemolytic anemia and hemoglobinuric AKI presenting 9 days after repair of an ascending aortic dissection with a prosthetic graft. After an unremarkable recovery following the initial procedure, the patient presented on postoperative day 9 with dyspnea, fatigue, and cola-colored urine...
December 18, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29200317/pediatric-gist-presenting-as-anemia
#4
Paola Cianci, Chiara Luini, Maddalena Marinoni, Luigi Nespoli, Alessandro Salvatoni, Silvia Salvatore
Gastrointestinal stromal tumors (GIST) are tumors of the gastrointestinal (GI) tract originating from the myenteric ganglion cells (interstitial cells of Cajal), that are very rare in children and adolescents. The most common clinical manifestation is acute or chronic, overt or occult GI bleeding although these tumors are asymptomatic in 10-30% of patients. We report a case of gastric GIST in a 11-year-old girl presenting with an iron deficiency refractory anemia without gastrointestinal symptoms and stool evidence of GI bleeding that caused a slight diagnostic delay...
December 4, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29184867/comorbidity-of-gynecological-and-non-gynecological-diseases-with-adenomyosis-and-endometriosis
#5
Eun Ji Choi, Seong Beom Cho, Sa Ra Lee, Young Mi Lim, Kyungah Jeong, Hye-Sung Moon, Hyewon Chung
Objective: Adenomyosis and endometriosis are relatively common gynecological diseases that exhibit many common features. This study identified gynecological and non-gynecological diseases that exhibited comorbidity with adenomyosis and endometriosis in Korean women. Methods: We used Health Insurance Review and Assessment data from 2009 to 2011 and searched for adenomyosis and endometriosis (coded as N80.1 and D25 in International Classification of Disease, 10th revision [ICD-10], respectively)...
November 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29181179/efficacy-of-bendamustine-on-thrombocytopenia-and-hemolytic-anemia-secondary-to-cd5-positive-b-cell-lymphoma-with-massive-splenomegaly-in-a-patient-with-rheumatoid-arthritis
#6
Yuzuru Hosoda, Hiroshi Hagino, Norihiko Hino, Toru Motokura
Chemotherapy for lymphoma may be avoided in the presence of coincident cytopenia. In case of immune cytopenia secondary to lymphoma, treatment of cytopenia is the same for primary cases, however, chemotherapy for lymphoma may be effective at the cost of severe hematological toxicity. The present study reports a complex case of thrombocytopenia and direct antiglobulin test-negative hemolytic anemia, thus mimicking Evans syndrome, secondary to cluster of differentiation 5-positive B-cell lymphoma with massive splenomegaly, in a patient suffering from rheumatoid arthritis for two decades...
November 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29181143/myeloid-neoplasms-with-isolated-isochromosome-17q-a-yet-to-be-defined-entity
#7
Eleftheria Lamprianidou, Chryssoula Kordella, Menelaos Papoutselis, Zoi Bezyrgiannidou, Evangelia Nakou, Spyros Papamichos, Emmanouil Spanoudakis, Andreas Giannopoulos, Katerina Zoi, Ioannis Kotsianidis
Myeloid neoplasms with isolated isochromosome 17q [MN i(17q)] has been described as a distinct entity with poor prognosis. However, literature reports show a considerable clinical and molecular heterogeneity. We describe a 58-year-old male patient who was diagnosed as refractory anemia with multilineage dysplasia and ringed sideroblasts with isolated i(17q). Though he initially responded well to erythropoietin, he gradually progressed to an aggressive form of MDS/MPN refractory to azacytidine and died 29 months after the first diagnosis...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29173704/hepcidin-25-gives-an-indication-of-the-therapeutic-effectiveness-of-tocilizumab-in-rheumatoid-arthritis-relationship-between-disease-activity-of-rheumatoid-arthritis-and-anemia
#8
Satoshi Suzuki, Souichiro Nakano, Seiichiro Ando, Ran Matsudaira, Yoshinori Kanai, Kenjiro Yamanaka, Yoshinari Takasaki
No abstract text is available yet for this article.
November 2017: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/29149219/characterization-and-classification-of-lupus-patients-based-on-plasma-thermograms
#9
Nichola C Garbett, Guy N Brock, Jonathan B Chaires, Chongkham S Mekmaysy, Lynn DeLeeuw, Kathy L Sivils, John B Harley, Brad H Rovin, K B Kulasekera, Wael N Jarjour
OBJECTIVE: Plasma thermograms (thermal stability profiles of blood plasma) are being utilized as a new diagnostic approach for clinical assessment. In this study, we investigated the ability of plasma thermograms to classify systemic lupus erythematosus (SLE) patients versus non SLE controls using a sample of 300 SLE and 300 control subjects from the Lupus Family Registry and Repository. Additionally, we evaluated the heterogeneity of thermograms along age, sex, ethnicity, concurrent health conditions and SLE diagnostic criteria...
2017: PloS One
https://www.readbyqxmd.com/read/29144542/autoimmune-diseases-and-breast-cancer-risk-by-tumor-hormone-receptor-status-among-elderly-women
#10
Catherine Schairer, Ruth M Pfeiffer, Shahinaz M Gadalla
The female preponderance of many autoimmune diseases suggests a possible hormonal etiology. Little research exists on systemic and organ-specific autoimmune diseases and risk of breast cancer by tumor estrogen receptor (ER)- and progesterone receptor (PR)- status. Here we evaluate associations between selected systemic and organ-specific autoimmune diseases and breast cancer risk overall and by tumor ER- and PR-status. We used linked Surveillance, Epidemiology and End Results (SEER)-Medicare data, with first female breast cancer cases ages ≥66 years identified by SEER registries (years 1992-2011) (N = 209,929)...
November 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29132164/mutational-spectrum-of-fanconi-anemia-associated-myeloid-neoplasms
#11
Mwe Mwe Chao, Kathrin Thomay, Gudrun Goehring, Marcin Wlodarski, Victor Pastor, Brigitte Schlegelberger, Detlev Schindler, Christian Peter Kratz, Charlotte Niemeyer
Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected...
November 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29129340/synchronous-colorectal-cancer-and-multiple-myeloma-with-chest-wall-involvement-is-this-a-coincidence
#12
Qiu-Li Li, Jin-An Ma, Hai-Peng Li, Ren-Bing Huang, Chun-Hong Hu, Xian-Ling Liu, Ya-Wen Gao, Gang-Hua Feng, Fang Wu
Multiple primary malignant neoplasms (MPMNs) are rare malignant neoplasms that simultaneously or successively occur in the same patient as 2 or more primary malignancies. Currently, an increasing number of cases are being reported. In general, MPMNs more commonly occur as 2 solid tumors or 2 hematological malignancies. Cases of MPMN that involve a solid tumor and a hematological malignancy are rare. Here, we report a case of synchronous colorectal cancer (CRC) and multiple myeloma (MM) with chest wall involvement...
September 25, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/29078759/endothelin-a-receptor-blocker-and-calcimimetic-in-the-adenine-rat-model-of-chronic-renal-insufficiency
#13
Suvi Törmänen, Ilkka Pörsti, Päivi Lakkisto, Ilkka Tikkanen, Onni Niemelä, Timo Paavonen, Jukka Mustonen, Arttu Eräranta
BACKGROUND: We studied whether endothelin receptor antagonist and calcimimetic treatments influence renal damage and kidney renin-angiotensin (RA) components in adenine-induced chronic renal insufficiency (CRI). METHODS: Male Wistar rats (n = 80) were divided into 5 groups for 12 weeks: control (n = 12), 0.3% adenine (Ade; n = 20), Ade + 50 mg/kg/day sitaxentan (n = 16), Ade + 20 mg/kg/day cinacalcet (n = 16), and Ade + sitaxentan + cinacalcet (n = 16)...
October 27, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29077164/macrophage-activation-syndrome-as-a-complication-of-juvenile-rheumatoid-arthritis
#14
Q An, M-W Jin, X-J An, S-M Xu, L Wang
OBJECTIVE: Juvenile rheumatoid arthritis (JRA), also known as juvenile idiopathic arthritis (JIA), is a rare autoimmune joint disorder of children. The concrete causes for the prevalence of the above pathological state are still unknown. In other words, it is an arthritis affecting mainly children and adolescents. Clinically, it has 3 different clinical subtypes. JRA patients are often noticed with some confirmed symptoms including coagulopathy, disseminated intravascular coagulation (DIC) with hepatosplenomegaly, fall in erythrocyte sedimentation rate and higher levels of liver enzymes leading to a life-threatening outcome...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29070129/-clinical-efficacy-of-low-dose-decitabine-combined-with-cag-regimen-in-patients-with-myelodysplastic-syndrome-refractory-anemia-with-excess-blasts-mds-raeb
#15
Meng Wang, Hao-Hao Han, Rong Guo, Yan-Fang Liu, Zhong-Xing Jiang, Hui Sun
OBJECTIVE: To investigate the clinical efficacy of low-dose decitabine combined with CAG regimen in patients with myelodysplastic syndrome-refractory anemia with excess blasts (MDS-RAEB) through retrospective analysis. METHODS: Thirty-six patients with MDS-RAEB who ever received low-dose decitabine combined with CAG regimen were enrolled into decitabine + CAG group and 40 patients with MDS-RAEB treated by decitabine alone in our center were enolled into the control group...
October 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29037900/autoimmune-comorbidity-in-chronic-spontaneous-urticaria-a-systematic-review
#16
REVIEW
Pavel Kolkhir, Elena Borzova, Clive Grattan, Riccardo Asero, Dmitry Pogorelov, Marcus Maurer
BACKGROUND AND OBJECTIVE: Numerous autoimmune diseases (AIDs) have been linked to chronic spontaneous urticaria (CSU). Here, we provide the first extensive and comprehensive evaluation of the prevalence of AIDs in patients with CSU and vice versa. METHODS: A Pubmed and Google Scholar search was performed to identify studies reporting the prevalence of various AIDs in CSU and vice versa published before April 2017. RESULTS: The prevalence of individual AIDs in CSU is increased (≥1% in most studies vs ≤1% in the general population)...
October 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28982058/transcriptome-analysis-of-cd34-cells-from-myelodysplastic-syndrome-patients
#17
Ruiming Ou, Jing Huang, Huijuan Shen, Zhi Liu, Yangmin Zhu, Qi Zhong, Liling Zheng, Mengdong Yao, Yanling She, Shanyao Zhou, Rui Chen, Cheng Li, Qing Zhang, Shuang Liu
The myelodysplastic syndrome (MDS) represents a heterogeneous group of clonal hematologic stem cell disorders with the characteristic of ineffective hematopoiesis leading to low blood counts, and a risk of progression to acute myeloid leukemia (AML). To understand specific molecular characteristics of different MDS subtypes with del(5q), we analyzed the gene expression profiles of CD34+ cells from MDS patients of different databases and its enriched pathways. 44 genes, such as MME and RAG1, and eight related pathways were identified to be commonly changed, indicating their conserved roles in MDS development...
November 2017: Leukemia Research
https://www.readbyqxmd.com/read/28950430/low-hemoglobin-predicts-radiographic-damage-progression-in-early-rheumatoid-arthritis-secondary-analysis-from-a-phase-iii-trial
#18
Burkhard Möller, Judith Everts-Graber, Stefan Florentinus, Yihan Li, Hartmut Kupper, Axel Finckh
OBJECTIVE: To study low blood hemoglobin concentrations as a predictor of radiographic damage progression in patients with rheumatoid arthritis (RA). METHODS: Post-hoc analyses were performed in patients from the PREMIER trial with early RA undergoing two years of adalimumab (ADA), methotrexate (MTX), or ADA+MTX combination therapy. Low disease activity was defined by the 28-joint based disease activity score DAS28-CRP <3.2, and clinical response by 20% improvement in the American College of Rheumatology response criteria at week 24...
September 26, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28903443/radioligand-therapy-of-metastatic-prostate-cancer-using-177-lu-psma-617-after-radiation-exposure-to-223-ra-dichloride
#19
Hojjat Ahmadzadehfar, Stefanie Zimbelmann, Anna Yordanova, Rolf Fimmers, Stefan Kürpig, Elisabeth Eppard, Florian C Gaertner, Xiao Wei, Stefan Hauser, Markus Essler
Radioligand therapy with (177)Lu-PSMA-617 is an innovative and effective therapy for castrate-resistant metastatic prostate cancer patients. For patients with symptomatic bone metastases without visceral metastases, the guidelines recommend radionuclide therapy with (223)Ra-dichloride as a single therapeutic agent or in combination with hormone therapy. The aim of this study was to evaluate the safety of repeated cycles of (177)Lu-PSMA-617 after exposure to more cycles of (223)Ra. Forty-nine patients were treated with three cycles of Lu-PSMA-617 divided into two groups subjected to a history of therapy with (223)Ra...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28894708/hepatic-proteins-and-inflammatory-markers-in-rheumatoid-arthritis-patients
#20
Manel Ben-Hadj-Mohamed, Souhir Khelil, Mokhles Ben Dbibis, Latifa Khlifi, Hend Chahed, Salima Ferchichi, Elyes Bouajina, Abdelhédi Miled
BACKGROUND: Rheumatoid arthritis is an autoimmune inflammatory rheumatic disease that causes chronic synovial inflammation eventually leading to joint destruction and disability. The aim of this study was to determine the variations of hepatic proteins, myeloperoxidase, and iron in rheumatoid arthritis Tunisian patients and their implications in inflammation and in iron metabolism. METHODS: Overall, 172 patients from the Rheumatology Department of the University Hospital "Farhat Hached", Sousse-Tunisia between 2011 and 2012, with rheumatoid arthritis (97...
August 2017: Iranian Journal of Public Health
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