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https://www.readbyqxmd.com/read/29227722/glucose-phosphate-isomerase-gpi-tadikonda-characterization-of-a-novel-pro340ser-mutation
#1
Ahmar U Zaidi, Prabhakar Kedar, Prasad Rao Koduri, Gerard W Goyette, Steven Buck, Donald E Paglia, Yaddanapudi Ravindranath
After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses. Exome sequencing studies showed a homozygous c.1018C>T (Pro340Ser) mutation in exon 12 of the glucose phosphate isomerase gene and later confirmed by direct sequencing...
December 11, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29227266/prevalence-of-diseases-among-adolescent-population-in-dnepropetrovsk-region-ukraine-correlated-with-drinking-water-quality-deterioration
#2
L Hryhorenko, S Shchudro, A Shevchenko, N Rublevska, V Zaitsev
Purpose of research was to study dynamics prevalence of diseases among children' population in the separate rural tacsons of Dnepropetrovsk region; to carry out correlation analysis between some indicators of drinking water quality and prevalence of diseases. Research indicators of prevalence of diseases was carried out in the 6 types of tacsons of Dnipropetrovsk region (Ukraine) during 2008 - 2013 years (totally 522720 indicators). It was proved that (I, II, III, XI, XIII, XIV) classes of diseases takes the first place by the prevalence of diseases in the majority of rural tacsons...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29226797/axicabtagene-ciloleucel-car-t-cell-therapy-in-refractory-large-b-cell-lymphoma
#3
Sattva S Neelapu, Frederick L Locke, Nancy L Bartlett, Lazaros J Lekakis, David B Miklos, Caron A Jacobson, Ira Braunschweig, Olalekan O Oluwole, Tanya Siddiqi, Yi Lin, John M Timmerman, Patrick J Stiff, Jonathan W Friedberg, Ian W Flinn, Andre Goy, Brian T Hill, Mitchell R Smith, Abhinav Deol, Umar Farooq, Peter McSweeney, Javier Munoz, Irit Avivi, Januario E Castro, Jason R Westin, Julio C Chavez, Armin Ghobadi, Krishna V Komanduri, Ronald Levy, Eric D Jacobsen, Thomas E Witzig, Patrick Reagan, Adrian Bot, John Rossi, Lynn Navale, Yizhou Jiang, Jeff Aycock, Meg Elias, David Chang, Jeff Wiezorek, William Y Go
Background In a phase 1 trial, axicabtagene ciloleucel (axi-cel), an autologous anti-CD19 chimeric antigen receptor (CAR) T-cell therapy, showed efficacy in patients with refractory large B-cell lymphoma after the failure of conventional therapy. Methods In this multicenter, phase 2 trial, we enrolled 111 patients with diffuse large B-cell lymphoma, primary mediastinal B-cell lymphoma, or transformed follicular lymphoma who had refractory disease despite undergoing recommended prior therapy. Patients received a target dose of 2×106 anti-CD19 CAR T cells per kilogram of body weight after receiving a conditioning regimen of low-dose cyclophosphamide and fludarabine...
December 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29226507/age-is-the-only-predictor-of-small-decrease-in-lung-function-in-children-with-sickle-cell-anemia
#4
Shaina M Willen, Robyn Cohen, Mark Rodeghier, Fenella Kirkham, Susan S Redline, Carol Rosen, Jane Kirkby, Michael R DeBaun
The longitudinal pattern of lung function in children with sickle cell anemia (SCA) has shown a decrease in FEV1 % predicted, a risk factor for death in adults with SCA, but predictors for this decline are poorly characterized. In a prospective longitudinal multi-center cohort of children with SCA, we tested the hypotheses that: 1) FEV1 % predicted declines over time; and 2) SCA-specific characteristics and therapy predict this decline. At three clinical centers, children with SCA (HbSS or HbSβ0 thalassemia), unselected for respiratory disease, were enrolled in the Sleep and Asthma Cohort (SAC) study...
December 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29225250/importance-of-the-average-glucose-level-and-estimated-glycated-hemoglobin-in-a-diabetic-patient-with-hereditary-hemolytic-anemia-and-liver-cirrhosis
#5
Rieko Nakatani, Takashi Murata, Takeshi Usui, Koki Moriyoshi, Toshiki Komeda, Yuichi Masuda, Maiko Kakita-Kobayashi, Tetsuya Tagami, Shinsaku Imashuku, Shigeo Kono, Kazunori Yamada, Akira Shimatsu
Glycated hemoglobin (HbA1c) is a widely used marker of glycemic control but can be affected by hemolytic anemia. Glycated albumin (GA) is also affected in patients with liver cirrhosis. We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus and liver cirrhosis due to hemochromatosis. The estimated HbA1c calculated from the average glucose level obtained by continuous glucose monitoring or by self-monitoring of blood glucose was useful for evaluating the glycemic control in this patient, as HbA1c and GA were unreliable due to the coexisting conditions...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29225165/cross-talk-between-tp53-and-c-myc-in-the-pathophysiology-of-diamond-blackfan-anemia-evidence-from-rpl11-deficient-in-vivo-and-in-vitro-models
#6
Anirban Chakraborty, Tamayo Uechi, Yukari Nakajima, Hanna T Gazda, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Naoya Kenmochi
Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal protein (RP) L11 playing a crucial role in the TP53 response. Interestingly, RPL11 also controls the transcriptional activity of c-Myc, an oncoprotein that positively regulates ribosome biogenesis. In the present study, we analyzed the consequences of rpl11 depletion on erythropoiesis and ribosome biogenesis in zebrafish...
December 7, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29223451/mineralization-in-newborn-calves-contributes-to-health-improve-the-antioxidant-system-and-reduces-bacterial-infections
#7
Patrícia Glombowsky, Aleksandro S da Silva, Natan M Soldá, Gabriela M Galli, Angelisa H Biazus, Gabriela Campigotto, Nathieli B Bottari, Rejane S Sousa, Maiara C Brisola, Lenita M Stefani, Matheus D Baldissera, Marta L R Leal, Vera M Morsch, Maria Rosa C Schetinger, Gustavo Machado
The first phase of life of dairy calves has elevated mortality indices linked with low immunity and sanitary challenges, mainly bacterial infections are involved in the pathogenesis of diarrhea, the leading cause of death. Also, other important problem is the nutritional deficiencies, such as the mineral deficiency. Thus, the aim of this study was to evaluate whether an intramuscular mineral supplementation based on selenium, copper, potassium, magnesium and phosphorus possess beneficial effects on health of dairy calves...
December 6, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29222899/prevalence-and-determinants-of-iron-deficiency-anemia-among-non-pregnant-women-of-reproductive-age-in-pakistan
#8
Muhammad Atif Habib, Camille Raynes-Greenow, Sajid Bashir Soofi, Noshad Ali, Sidrah Nausheen, Imran Ahmed, Zulfiqar Ahmed Bhutta, Kirsten I Black
BACKGROUND AND OBJECTIVES: Iron deficiency Anemia (IDA) in women of reproductive age is a recognized public health concern that impairs health and well-being in women and is associated with adverse reproductive outcomes. In Pakistan there is a dearth of up-to-date information on the prevalence and predictors of IDA. This study sought to investigate IDA in Pakistani women. METHODS AND STUDY DESIGN: Secondary analysis was performed using the National Nutrition Survey in Pakistan 2011- 2012...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29222291/evolving-treatment-paradigms-in-sickle-cell-disease
#9
REVIEW
Ramasamy Jagadeeswaran, Angela Rivers
Sickle cell disease (SCD) is an inheritable hemoglobinopathy characterized by polymerization of hemoglobin S in red blood cells resulting in chronic hemolytic anemia, vaso-occlusive painful crisis, and multiorgan damage. In SCD, an increased reactive oxygen species (ROS) generation occurs both inside the red blood cells and inside the vascular lumen, which augment hemolysis and cellular adhesion. This review discusses the evolving body of literature on the role of ROS in the pathophysiology of SCD as well as some emerging therapeutic approaches to SCD with a focus on the reduction of ROS...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29221528/evaluation-of-iron-deficiency-anemia-in-a-pediatric-clinic-in-the-dominican-republic
#10
Steven G McKee, Ryan Close, Elizabeth Lowenthal
BACKGROUND: Iron deficiency and iron deficiency anemia affect billions of people worldwide. Infants and young children are the most vulnerable. The Niños Primeros en Salud pediatric clinic aims to follow the American Academy of Pediatrics (AAP) recommendation to screen all children at 12 months of age, a vital period for development and the time of greatest risk. OBJECTIVES: To evaluate the clinic's performance screening for, diagnosing, and treating iron deficiency anemia; and to describe the prevalence and severity of anemia in infants and children attending a perirural clinic in the Dominican Republic...
May 2017: Annals of Global Health
https://www.readbyqxmd.com/read/29220885/indexes-of-the-erythropoietin-level-in-the-blood-plasma-of-chronic-heart-failure-patients-with-anemia
#11
Kamala Kh Zahidova
BACKGROUND: Anemia aggravates the disease course and the survival rate of chronic heart failure (CHF) patients. The purpose of the study was to investigate the level of erythropoietin (EPO) in CHF patients with anemic syndrome, with the aim to more accurately assess the severity of the disease and its treatment, depending on the anemia degree. METHODS: Patients with ischemic CHF of I-IV functional class (FC) with and without anemia were examined (total number of patients=208, patients with anemia=174)...
December 7, 2017: Journal of Basic and Clinical Physiology and Pharmacology
https://www.readbyqxmd.com/read/29219637/first-cases-of-hb-agrinio-described-in-patients-from-the-republic-of-macedonia
#12
Marija Dimishkovska, Maja Kuzmanovska, Svetlana Kocheva, Kata Martinova, Oliver Karanfilski, Zlate Stojanoski, Dijana Plaseska-Karanfilska
Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: -α3.7 (rightward), -(α)20.5 and - -MED I deletions and Hb Icaria [α142, Term→Lys (α2), HBA2: c.427T>A] and polyadenylation signal (polyA) [AATAAA>AATGAA (α2), HBA2: c.*92A>G] point mutations. Here, we report two unrelated patients from the Romani population in the Republic of Macedonia, homozygotes for the α2-globin gene variant Hb Agrinio [α29(B10)Leu→Pro; HBA2: c...
December 8, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29215399/hemorrhage-of-liver-and-bone-metastases-as-a-result-of-rapid-response-to-dual-braf-mek-inhibition-in-metastatic-melanoma-a-case-report
#13
Tine Loyson, Emilie Werbrouck, Kevin Punie, Lawrence Bonne, Vincent Vandecaveye, Oliver Bechter
Combination therapy using a BRAF and MEK inhibitor significantly improves both progression-free and overall survival in patients with BRAF V600-mutated stage IV melanoma. Dual MAPK inhibition achieves an objective response in the majority of patients. We present a case of a woman with BRAF V600E-mutated malignant melanoma and rapidly progressing liver, bone, and lymph node metastases. The patient commenced dabrafenib and trametinib with clinical and biochemical signs of response after 2 days. On day 3 she developed grade 3 liver hemorrhage, which was successfully embolized...
December 5, 2017: Melanoma Research
https://www.readbyqxmd.com/read/29214694/myelodysplastic-syndromes-2018-update-on-diagnosis-risk-stratification-and-management
#14
Guillermo Montalban-Bravo, Guillermo Garcia-Manero
DISEASE OVERVIEW: The myelodysplastic syndromes (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy. DIAGNOSIS: Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy. Information obtained from additional studies such as karyotype, flow cytometry or molecular genetics is usually complementary and may help refine diagnosis...
January 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29212978/-acute-myeloid-leukemia-complicated-by-pneumonia-and-vertebral-osteomyelitis-during-induction-chemotherapy
#15
Yuki Kamata, Yuki Fujiwara, Kentaro Mizuhara, Naoya Mochizuki, Shiro Kubonishi, Yasushi Hiramatsu
A 76-year-old woman was operated on for rectal cancer in 2011 without chemotherapy and was followed up in the outpatient department. Decrease in white blood cell count was observed from 2013, and she developed anemia in 2015. Bone marrow aspiration was performed, and she was diagnosed with acute myeloid leukemia with myelodysplasia-related changes (AML/MRC). First, remission induction therapy was initiated with idarubicin and cytarabine administration, but pneumonia and vertebral osteomyelitis developed during the neutropenic period...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29212421/antineoplastic-chemotherapy-in-jehovah-s-witness-patients-with-acute-myelogenous-leukemia-refusing-blood-products-a-matched-pair-analysis
#16
Stefan Wilop, Rainhardt Osieka
BACKGROUND: Acute myelogenous leukemia (AML) may be cured in a substantial number of patients using intensive chemotherapeutic regimens leading to temporary severe myelosuppression. Patients belonging to the denomination of Jehovah's Witnesses (JW), however, are bound by their religious convictions not to accept blood products and are therefore at higher risk for life-threatening events. Reports how to handle this challenge are mainly anecdotal. MATERIAL AND METHODS: We here report in much more detail about our experience with nine patients belonging to the denomination of JW who were treated for AML in our department from 1998 to 2007 and who explicitly wished to receive chemotherapy without blood transfusions...
December 7, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29206727/assessment-of-myocardial-function-and-injury-by-echocardiography-and-cardiac-biomarkers-in-african-children-with-severe-plasmodium-falciparum-malaria
#17
Simon Kotlyar, Peter Olupot-Olupot, Julius Nteziyaremye, Samuel O Akech, Sophie Uyoga, Rita Muhindo, Christopher L Moore, Kathryn Maitland
OBJECTIVES: Perturbed hemodynamic function complicates severe malaria. The Fluid Expansion as Supportive Therapy trial demonstrated that fluid resuscitation, involving children with severe malaria, was associated with increased mortality, primarily due to cardiovascular collapse, suggesting that myocardial dysfunction may have a role. The aim of this study was to characterize cardiac function in children with severe malaria. DESIGN: A prospective observational study with clinical, laboratory, and echocardiographic data collected at presentation (T0) and 24 hours (T1) in children with severe malaria...
December 4, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29206554/front-line-treatment-options-for-chronic-phase-chronic-myeloid-leukemia
#18
Neil P Shah
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice...
December 5, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29204933/feasibility-and-effectiveness-of-trifluridine-tipiracil-in-metastatic-colorectal-cancer-real-life-data-from-the-netherlands
#19
Johannes J M Kwakman, G Vink, J H Vestjens, L V Beerepoot, J W de Groot, R L Jansen, F L Opdam, H Boot, G J Creemers, J M van Rooijen, M Los, A J E Vulink, H Schut, E van Meerten, A Baars, P Hamberg, E Kapiteijn, D W Sommeijer, C J A Punt, M Koopman
BACKGROUND: The RECOURSE trial showed clinical efficacy for trifluridine/tipiracil for refractory metastatic colorectal cancer patients. We assessed the feasibility and effectiveness of trifluridine/tipiracil in daily clinical practice in The Netherlands. METHODS: Medical records of patients from 17 centers treated in the trifluridine/tipiracil compassionate use program were reviewed and checked for RECOURSE eligibility criteria. Baseline characteristics, safety, and survival times were compared, and prespecified baseline characteristics were tested in multivariate analyses for prognostic significance on overall survival (OS)...
December 4, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29201323/does-serum-lipid-profile-differ-in-anemia-and-non-anemic-older-subjects
#20
Mahshid Shirvani, Mohsen Vakili Sadeghi, Seyed Reza Hosseini, Ali Bijani, Reza Ghadimi
Background: There is some evidence that shows the symptoms of anemia are fewere in overweight and obese people, so, the purpose of this research was to study the relationship between anemia and iron deficiency anemia (IDA) with lipid profile status of the elderly. Methods: This cross-sectional study came from the Amirkola Health and Ageing Project (AHAP). A demographic questionnaire was given to the older people and a blood sample was obtained to assay their lipid indexes (triglyceride, cholesterol, HDL and LDL) and the parameters related to anemia after 12 hours fasting...
2017: Caspian Journal of Internal Medicine
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