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https://www.readbyqxmd.com/read/29772037/a-review-of-fabry-disease
#1
A Cinats, E Heck
The class of medications known as Janus kinase inhibitors block cytokine-mediated signaling via the Janus kinase-signal transducer and activator of transcription (JAK-STAT) pathway, which plays an important role in immunoregulation and normal cell growth. This class includes the drugs tofacitinib, approved for the treatment of rheumatoid arthritis, and ruxolitinib, approved for the treatment of myelofibrosis and polycythemia rubra vera. The most common adverse events (AEs) reported in patients taking tofacitinib are infections, whereas the most common AEs in patients taking ruxolitinib are anemia and thrombocytopenia...
May 2018: Skin Therapy Letter
https://www.readbyqxmd.com/read/29745857/identification-of-novel-drug-targets-for-diamond-blackfan-anemia-based-on-rps19-gene-mutation-using-protein-protein-interaction-network
#2
Abbas Khan, Arif Ali, Muhammad Junaid, Chang Liu, Aman Chandra Kaushik, William C S Cho, Dong-Qing Wei
BACKGROUND: Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. In order to explore the molecular mechanisms of wild and mutated samples from DBA patients were exposed to bioinformatics investigation. Biological network of differentially expressed genes was constructed. This study aimed to identify novel therapeutic signatures in DBA and uncovered their mechanisms. The gene expression dataset of GSE14335 was used, which consists of 6 normal and 4 diseased cases...
April 24, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29687787/drug-induced-thrombotic-microangiopathy-with-certolizumab-pegol
#3
Mehmet Baysal, Elif Gülsüm Ümit, Fatih Sarıtaş, Nil Su Kodal, Ahmet Muzaffer Demir
BACKGROUND: Certolizumab pegol is used to treat ankylosing spondylitis (AS), chron disease, psoriatic arthritis and rheumatoid arthritis. In contrast to other monoclonal antibodies such as infliximab and adalimumab, certolizumab does not contain an Fc fraction and hence, does not induce complement activation. In this case, we are presenting a case with thrombotic microangiopathy (TMA) due to certolizumab pegol, with a touch of pathophysiological approach to TMA. CASE REPORT: A-39-year-old man with AS of ten years presented with fatigue...
April 24, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/29668607/successful-treatment-of-high-risk-myelodysplastic-syndrome-with-decitabine-based-chemotherapy-followed-by-haploidentical-lymphocyte-infusion-a-case-report-and-literature-review
#4
Yuanyuan Ma, Jianliang Shen, Li-Xin Wang
RATIONALE: The current therapy for elderly patients with high-risk myelodysplastic syndromes (MDSs) remains unsatisfactory. Decitabine, which has been approved to treat MDS, cannot eliminate malignant clones of MDS. PATIENT CONCERNS: A 68-year-old woman presented with multiple divergent bleeding points in the subcutaneous tissue of the limb. Two years earlier, she had been diagnosed with invasive ductal carcinoma of the left breast and had undergone left modified radical mastectomy and local radiation therapy...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29662636/analysis-of-hematological-parameters-as-prognostic-markers-for-toxicity-and-survival-of-223-radium-treatment
#5
Asha Leisser, Marzieh Nejabat, Markus Hartenbach, Reza Agha Mohammadi Sareshgi, Shahrokh Shariat, Gero Kramer, Michael Krainer, Marcus Hacker, Alexander R Haug
223 Radium (223 Ra) has emerged as treatment prolonging survival in patients with metastatic castration-resistant prostate cancer (CRPC). As 223 Ra can cause hematotoxicity (HT), pre-existing hematopoiesis might influence the efficacy of 223 Ra and the rate of hematotoxicity, but as to our knowledge such data has not been published yet, we retrospectively conducted an analysis on patients receiving 223 Ra. 54 patients treated with 223 Ra had a median survival of 67 weeks, which was significantly reduced in patients with pre-existing Hb toxicity (Tox) grade 2 (48 weeks P = 0...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29615405/the-enigma-of-monosomy-7
#6
Toshiya Inaba, Hiroaki Honda, Hirotaka Matsui
Since a report of some 50 years ago describing refractory anemia associated with group C monosomy, monosomy 7 (-7) and interstitial deletions of chromosome 7 [del(7q)] have been established as one of the most frequent chromosomal aberrations found in essentially all types of myeloid tumors regardless of patient age and disease etiology. In the last century, researchers sought recessive myeloid tumor-suppressor genes by attempting to determine commonly-deleted regions (CDRs) in del(7q) patients. However, these efforts were not successful...
April 3, 2018: Blood
https://www.readbyqxmd.com/read/29570171/factors-associated-with-health-care-utilization-of-recurrent-clostridium-difficile-infection-in-new-york-state
#7
Steven N Mathews, Ryan Lamm, Jie Yang, Jihye Park, Demetrios Tzimas, Jonathan M Buscaglia, Aurora Pryor, Mark Talamini, Dana Telem, Juan C Bucobo
BACKGROUND: The incidence of infection due to Clostridium difficile infection (CDI) and subsequent economic burden are substantial. GOALS: The impact of changing practice patterns on demographics at risk and utilization of health care resources for recurrence of CDI remains unclear. STUDY: A total of 291,163 patients hospitalized for CDI were identified from 1995 to 2014 from the New York SPARCS database. The χ test, the Welch t test, and multivariable logistic regression analysis were performed to evaluate factors related to readmission...
March 21, 2018: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29569278/lenalidomide-treatment-of-myelodysplastic-syndromes-with-chromosome-5q-deletion-results-from-the-national-registry-of-the-italian-drug-agency
#8
Francesco Arcioni, Andrea Roncadori, Valeria Di Battista, Sante Tura, Anna Covezzoli, Sante Cundari, Cristina Mecucci
OBJECTIVE: The most typical cytogenetic aberration in myelodysplastic syndromes is del(5q), which, when isolated, is associated with refractory anemia and good prognosis. Based on high rates of erythroid response and transfusion independence, Lenalidomide (LEN) became the standard treatment. This multi-centre study was designed to supplement Italian Registry data on LEN by addressing prescription, administration appropriateness, hematological and cytogenetic responses and disease evolution...
March 22, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29564309/current-medical-treatment-of-uterine-fibroids
#9
REVIEW
Geum Seon Sohn, SiHyun Cho, Yong Man Kim, Chi-Heum Cho, Mee-Ran Kim, Sa Ra Lee
Uterine fibroids (leiomyomas or myomas), benign monoclonal tumors, are the most common benign tumors in women. Heavy or prolonged menstrual bleeding, abnormal uterine bleeding, resultant anemia, pelvic pain, infertility, and/or recurrent pregnancy loss are generally associated with uterine fibroids. Although curative treatment of this tumor relies on surgical therapies, medical treatments are considered the first-line treatment to preserve fertility and avoid or delay surgery. The aim of this review is to provide available and emerging medical treatment options for symptomatic uterine fibroids...
March 2018: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29563728/aggressive-angioimmunoblastic-t-cell-lymphomas-aitl-with-soft-tissue-extranodal-mass-varied-histopathological-patterns-with-peripheral-blood-bone-marrow-and-splenic-involvement-and-review-of-literature
#10
Tanushri Mukherjee, Rajat Dutta, S Pramanik
Angioimmunoblastic T cell lymphoma (AITL) is a peripheral T cell non-Hodgkin lymphoma with an aggressive fatal course and it has varied clinical presentation with an uncommon presentation when they present as soft tissue masses or when there is spill in the peripheral blood or there are composite lymphomas that are rare presentations. Common presentations include lymphadenopathy, fever and systemic symptoms, hemolytic anemias, skin rashes, and rheumatoid arthritis. The classical histopathology is absence of follicles in lymph nodes with presence of high endothelial venules and the tumor cells of small to medium-sized lymphocytes with pale cytoplasm mixed with reactive T cells...
March 2018: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29561472/a-case-of-warm-autoimmune-hemolytic-anemia-with-a-direct-antiglobulin-test-positive-for-c3-in-rheumatoid-arthritis-patient-successfully-treated-with-low-dose-rituximab
#11
Ugo Salvadori, Bernd Raffeiner, Ahmad Al-Khaffaf, Giuseppe Lippi, Massimo Daves
No abstract text is available yet for this article.
March 21, 2018: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/29540277/stent-less-percutaneous-coronary-intervention-using-rotational-atherectomy-and-drug-coated-balloon-a-case-series-and-a-mini-review
#12
REVIEW
Jun Shiraishi, Nariko Koshi, Yuki Matsubara, Tetsuro Nishimura, Akira Shikuma, Keisuke Shoji, Daisuke Ito, Masayoshi Kimura, Eigo Kishita, Yusuke Nakagawa, Masayuki Hyogo, Takahisa Sawada
BACKGROUND: Experiences of rotational atherectomy (RA) followed by drug-coated balloon (DCB) dilation alone (RA/DCB) for de novo coronary artery lesion have been limited. CASE SERIES: Case 1 (65 year-old male) with silent myocardial ischemia and hemodialysis had old anterior myocardial infarction and intact LM/LCx, and underwent RA/DCB against a diffuse calcified lesion in the proximal LAD and a tandem lesion in the proximal RCA. Case 2 (88 year-old female) with post-infarction unstable angina had severe thrombocytopenia and anemia due to myelodysplastic syndrome (platelet 6000/μL, hemoglobin 8...
February 12, 2018: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/29538083/risk-factors-for-transfusions-following-total-joint-arthroplasty-in-patients-with-rheumatoid-arthritis
#13
Elizabeth Salt, Amanda T Wiggins, Mary Kay Rayens, Katelyn Brown, Kate Eckmann, Andrew Johannemann, Raymond D Wright, Leslie J Crofford
BACKGROUND/OBJECTIVE: Despite effective therapies, rheumatoid arthritis (RA) can result in joint destruction requiring total joint arthroplasty to maintain patient function. An estimated 16% to 70% of those undergoing total joint arthroplasty of the hip or knee will receive a blood transfusion. Few studies have described risk factors for blood transfusion following total joint arthroplasty in patients with RA. The aim of this study was to identify demographic and clinical risk factors associated with receiving a blood transfusion following total joint arthroplasty among patients with RA...
March 13, 2018: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/29508096/low-dose-methotrexate-in-rheumatoid-arthritis-a-potential-risk-factor-for-bisphosphonate-induced-osteonecrosis-of-the-jaw
#14
Paul C Mathai, Neelam N Andrade, Neha Aggarwal, Shibani Nerurkar, Prathmesh Kapoor
Bisphosphonate-induced osteonecrosis of the jaw [BIONJ] is a relatively new pathological condition which was first described in the year 2003. The prevalence of BIONJ in patients on oral formulations is around 0.05% within the first 3 years and increases up to 0.2% after 4 years of consumption. Proven systemic risk factors like anemia, uncontrolled diabetes, corticosteroid therapy, and chemotherapy in neoplastic diseases [e.g., high doses of methotrexate up to 30 mg daily] significantly increase the chances of acquiring BIONJ...
March 5, 2018: Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29505016/targeted-next-generation-sequencing-identifies-a-novel-nonsense-mutation-in-sptb-for-hereditary-spherocytosis-a-case-report-of-a-korean-family
#15
Soyoung Shin, Woori Jang, Myungshin Kim, Yonggoo Kim, Suk Young Park, Joonhong Park, Young Jun Yang
RATIONALE: Hereditary spherocytosis (HS) is an inherited disorder characterized by the presence of spherical-shaped red blood cells (RBCs) on the peripheral blood (PB) smear. To date, a number of mutations in 5 genes have been identified and the mutations in SPTB gene account for about 20% patients. PATIENT CONCERNS: A 65-year-old female had been diagnosed as hemolytic anemia 30 years ago, based on a history of persistent anemia and hyperbilirubinemia for several years...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29492048/spectrum-of-celiac-disease-in-paediatric-population-experience-of-tertiary-care-center-from-pakistan
#16
Danish Abdul Aziz, Misha Kahlid, Fozia Memon, Kamran Sadiq
Objective: To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). Methods: This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria...
November 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29476317/atypical-erythroblastosis-in-a-patient-with-diamond-blackfan-anemia-who-developed-del-20q-myelodysplasia
#17
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11...
February 23, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29433555/sf3b1-deficiency-impairs-human-erythropoiesis-via-activation-of-p53-pathway-implications-for-understanding-of-ineffective-erythropoiesis-in-mds
#18
Yumin Huang, John Hale, Yaomei Wang, Wei Li, Shijie Zhang, Jieying Zhang, Huizhi Zhao, Xinhua Guo, Jing Liu, Hongxia Yan, Karina Yazdanbakhsh, Gang Huang, Christopher D Hillyer, Narla Mohandas, Lixiang Chen, Ling Sun, Xiuli An
BACKGROUND: SF3B1 is a core component of splicing machinery. Mutations in SF3B1 are frequently found in myelodysplastic syndromes (MDS), particularly in patients with refractory anemia with ringed sideroblasts (RARS), characterized by isolated anemia. SF3B1 mutations have been implicated in the pathophysiology of RARS; however, the physiological function of SF3B1 in erythropoiesis remains unknown. METHODS: shRNA-mediated approach was used to knockdown SF3B1 in human CD34+ cells...
February 12, 2018: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/29433052/association-of-red-cell-distribution-width-with-clinical-outcomes-in-myelodysplastic-syndrome
#19
Yuta Baba, Bungo Saito, Shotaro Shimada, Yohei Sasaki, So Murai, Maasa Abe, Shun Fujiwara, Nana Arai, Yukiko Kawaguchi, Nobuyuki Kabasawa, Hiroyuki Tsukamoto, Yui Uto, Hirotsugu Ariizumi, Kouji Yanagisawa, Norimichi Hattori, Hiroshi Harada, Tsuyoshi Nakamaki
Studies showed red cell distribution width (RDW) can improve the detection of morphological changes in red blood cells and the understanding of their contribution to dyserythropoiesis in myelodysplastic syndrome (MDS). The purpose of the study was to evaluate dyserythropoiesis in MDS by RDW analysis and to explore the utility of RDW in clinical practice. We retrospectively analyzed laboratory and clinical data of 101 patients (59 patients was refractory anemia (RA) according to the French-American-British (FAB) classification)...
April 2018: Leukemia Research
https://www.readbyqxmd.com/read/29399706/differential-diagnostic-perspectives-provided-by-en-face-microscopic-examination-of-articular-surface-defects
#20
Bruce M Rothschild
Surface defects have a central position in diagnosis of articular pathology. Recognizing the limitations of standard radiologic techniques and those imposed by positioning and averaging artifacts on CT evaluation, direct visualization of surface defects was pursued to identify disease characteristics that would facilitate interpretation of radiologic findings. Epi-illumination surface microscopy was utilized to examine macroscopically recognized articular surface defects in individuals in the Hamann-Todd, Terry, and Huntington human skeletal collections with previously verified diagnoses of rheumatoid arthritis, spondyloarthropathy, juvenile inflammatory arthritis (JIA), calcium pyrophosphate deposition disease (CPPD), gout, metastatic cancer, multiple myeloma, septic arthritis, tuberculosis, fungal arthritis, histiocytosis and sickle cell anemia (Rothschild and Rothschild Clin Infect Dis 20(5):1402-1408, 1995; Rothschild et al...
March 2018: Clinical Rheumatology
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