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https://www.readbyqxmd.com/read/28944966/inpatient-management-of-children-with-recessive-dystrophic-epidermolysis-bullosa-a-review
#1
REVIEW
Alvin W Li, Brea Prindaville, Scot T Bateman, Timothy E Gibson, Karen Wiss
Recessive dystrophic epidermolysis bullosa is a disorder marked by skin and mucosal blistering after minimal trauma. Even the most routine procedures in the hospital, if done incorrectly, can precipitate extensive skin loss, pain, and scarring. Most providers have little experience working with patients with this degree of skin fragility. When a person with recessive dystrophic epidermolysis bullosa is admitted to the hospital, there are multiple considerations to keep in mind while strategizing an effective care plan: avoidance of new blisters with a "hands-off" approach; careful consideration of all indwelling devices; symptomatic management of pain, itch, and anxiety; coordination of dressing changes; aggressive treatment of skin infections; environmental and staffing considerations; and awareness of other chronic complications that affect care, such as anemia, malnutrition, and chronic pain...
September 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28944611/gene-therapy-with-the-trf1-telomere-gene-rescues-decreased-trf1-levels-with-aging-and-prolongs-mouse-health-span
#2
Aksinya Derevyanko, Kurt Whittemore, Ralph P Schneider, Verónica Jiménez, Fàtima Bosch, Maria A Blasco
The shelterin complex protects telomeres by preventing them from being degraded and recognized as double-strand DNA breaks. TRF1 is an essential component of shelterin, with important roles in telomere protection and telomere replication. We previously showed that TRF1 deficiency in the context of different mouse tissues leads to loss of tissue homeostasis owing to impaired stem cell function. Here, we show that TRF1 levels decrease during organismal aging both in mice and in humans. We further show that increasing TRF1 expression in both adult (1-year-old) and old (2-year-old) mice using gene therapy can delay age-associated pathologies...
September 24, 2017: Aging Cell
https://www.readbyqxmd.com/read/28943943/curative-resectability-of-gastrointestinal-cancer-identified-from-iron-deficiency-anemia
#3
Kenta Kawasaki, Yasuo Hamamoto, Masayasu Horibe, Kenji Shimura, Akira Nakamura, Takanori Kanai, Hiromasa Takaishi
The present study aimed to clarify the staging and curative resectability of gastrointestinal cancer found through iron deficiency anemia (IDA). An electronic database was used and females >51 and males >18 years old were identified who had been diagnosed with IDA at the internal medicine outpatient clinic of Asahi General Hospital (Chiba, Japan) from 1 April 2010 to 31 March 2012. IDA was defined as a hemoglobin level of <135 g/l for males and <120 g/l for females, combined with a serum ferritin level of <33...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943803/primary-hyperoxaluria-detected-by-bone-marrow-biopsy-case-report
#4
F Nachite, M Dref, A Fakhri, H Rais
BACKGROUND: Primary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow. The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions. CASE PRESENTATION: A young 22 year old chronic hemodialysis patient with nephrocalcinosis...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28942941/iron-laboratory-studies-in-pediatric-patients-with-heart-failure-from-dilated-cardiomyopathy
#5
David Higgins, Jessica Otero, Christa Jefferis Kirk, Jennifer Pak, Neal Jorgensen, Mariska Kemna, Erin Albers, Borah Hong, Joshua Friedland-Little, Yuk Law
Iron deficiency (FeD), with or without anemia, in adults with heart failure (HF) is associated with poor outcomes, which can be improved with replacement therapy. A similar therapeutic opportunity may exist for children; however, iron laboratory measurements and FeD have not been described in pediatric patients with HF. A single-center, retrospective study was conducted on 28 patients <21 years old with a diagnosis of dilated cardiomyopathy and HF who had iron laboratories (serum iron, iron saturation, and ferritin) performed...
August 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28942539/correction-of-%C3%AE-thalassemia-mutant-by-base-editor-in-human-embryos
#6
Puping Liang, Chenhui Ding, Hongwei Sun, Xiaowei Xie, Yanwen Xu, Xiya Zhang, Ying Sun, Yuanyan Xiong, Wenbin Ma, Yongxiang Liu, Yali Wang, Jianpei Fang, Dan Liu, Zhou Songyang, Canquan Zhou, Junjiu Huang
β-Thalassemia is a global health issue, caused by mutations in the HBB gene. Among these mutations, HBB -28 (A>G) mutations is one of the three most common mutations in China and Southeast Asia patients with β-thalassemia. Correcting this mutation in human embryos may prevent the disease being passed onto future generations and cure anemia. Here we report the first study using base editor (BE) system to correct disease mutant in human embryos. Firstly, we produced a 293T cell line with an exogenous HBB -28 (A>G) mutant fragment for gRNAs and targeting efficiency evaluation...
September 23, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28942446/status-of-vitamin-a-and-related-compounds-and-clinical-outcomes-in-maternal-infant-pairs-in-the-midwestern-united-states
#7
Corrine Hanson, Marina Schumacher, Elizabeth Lyden, Jeremy Furtado, Matthew Van Ormer, Elizabeth McGinn, Katherine Rilett, Caleb Cave, Rebecca Johnson, Kara Weishaar, Ann Anderson-Berry
BACKGROUND: Vitamin A is an essential nutrient for pregnant women, and other vitamin A-related compounds, including lutein and lycopene, have been associated with maternal-infant outcomes. The objective of this study was to quantify the status of vitamin A and related compounds in maternal-infant pairs at the time of delivery, and to determine its impact on clinical outcomes. METHODS: Maternal and cord blood samples were collected in 189 mother-infant pairs. Concentrations of lutein + zeaxanthin, β-cryptoxanthin, lycopene, carotenes, and retinol were measured using high-performance liquid chromatography...
September 22, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28942350/refractory-macrocytic-anemias-in-patients-with-clonal-hematopoietic-disorders-and-isolated-mutations-of-the-spliceosome-gene-zrsr2
#8
Roger A Fleischman, Shannon S Stockton, Christopher R Cogle
Although mutations in RNA splicing genes occur frequently in patients with clonal cytopenias of unknown significance (CCUS) and myelodysplastic syndromes (MDS), very often additional common myeloid gene driver mutations are present at diagnosis. Thus, the clinical significance of isolated mutations in the most commonly mutated RNA splicing genes remains unknown. Here we report five unusual patients with an isolated mutation causing a loss of function of ZRSR2, a protein required for recognition of a functional 3' splice site...
September 8, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28941711/persistent-elevation-of-plasma-thrombopoietin-levels-after-treatment-in-severe-aplastic-anemia
#9
Xin Zhao, Xingmin Feng, Zhijie Wu, Thomas Winkler, Ronan Desmond, Matthew Olnes, Bogdan Dumitriu, Danielle M Townsley, Cynthia E Dunbar, Neal S Young
Although hematopoietic growth factors are at high levels in aplastic anemia (AA) patients, little is known about their dynamic change over time post treatment. We examined plasma concentrations of hematopoietic growth factors sequentially in 55 severe AA patients (45 treatment-naïve patients who had received immunosuppressive therapy (IST) or IST and eltrombopag; 10 IST-refractory patients who had received eltrombopag only), focusing on thrombopoietin (TPO). TPO concentrations were much higher than normal range in patients before treatment, then decreased in responders but not in non-responders...
September 20, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28941623/post-licensure-safety-surveillance-study-of-routine-use-of-quadrivalent-meningococcal-diphtheria-toxoid-conjugate-vaccine
#10
J Hansen, L Zhang, N P Klein, C A Robertson, M D Decker, D P Greenberg, E Bassily, R Baxter
BACKGROUND: Menactra® vaccine (MenACWY-D) was licensed in the United States in 2005 for persons 11-55years of age. The aim of this study was to assess the safety of MenACWY-D administered as part of routine clinical care to patients at Kaiser Permanente Northern California (KPNC). METHODS: This was an observational, retrospective study that included all KPNC members who received MenACWY-D during the study period. We monitored all vaccine recipients for non-elective hospitalizations, emergency department visits, and selected outcomes captured in the clinic setting (Bell's palsy, seizures, neuritis, Guillain-Barré syndrome, encephalopathy, encephalitis, epilepsy, transverse myelitis, multiple sclerosis, hypersensitivity reactions, idiopathic thrombocytopenic purpura, diabetes, arthritis, hemolytic anemia, collagen-vascular disease) through 6months after vaccination...
September 20, 2017: Vaccine
https://www.readbyqxmd.com/read/28941545/transfusion-decision-making-in-pediatric-critical-illness
#11
REVIEW
Chris Markham, Peter Hovmand, Allan Doctor
Transfusion decision making (TDM) in the critically ill requires consideration of: (1) anemia tolerance, which is linked to active pathology and to physiologic reserve, (2) differences in donor RBC physiology from that of native RBCs, and (3) relative risk from anemia-attributable oxygen delivery failure vs hazards of transfusion, itself. Current approaches to TDM (e.g. hemoglobin thresholds) do not: (1) differentiate between patients with similar anemia, but dissimilar pathology/physiology, and (2) guide transfusion timing and amount to efficacy-based goals (other than resolution of hemoglobin thresholds)...
October 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28941328/inducing-indel-mutation-in-the-sox6-gene-by-zinc-finger-nuclease-for-gamma-reactivation-an-approach-towards-gene-therapy-of-beta-thalassemia
#12
Mehran Modares, Laleh Shariati, Zahra Hejazi, Mansoureh Shahbazi, Mohammad Amin Tabatabaiefar, Hossein Khanahmad
β-thalassemia is a common autosomal recessive disorder characterized by a deficiency in the synthesis of β-chains.Evidences show that increased HbF levels improve the symptoms in patients with β-thalassemia or sickle cell anemia. In this study, ZFN technology was applied to induce a mutation in the binding domain region of SOX6 to reactivate γ-globin expression. The sequences coding for ZFP arrays were designed and sub cloned in TDH plus as a transfer vector. The ZFN expression was confirmed using Western blot analysis...
September 23, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28940112/iron-in-kidney-and-heart-failure-from-theory-to-practice
#13
REVIEW
Aslihan Yerlikaya, Mustafa C Bulbul, Baris Afsar, Tuncay Dagel, Gamze Aslan, Luminita Voroneanu, Dimitire Siriopol, Adrian Covic, Mehmet Kanbay
There is evidence that serum iron levels, regardless of the presence of anemia, directly impact outcomes in congestive heart failure (CHF) including quality of life, hospitalization rate and overall survival. Despite modern medical treatments, the prognosis of CHF remains grim. Ironically, simple iron replenishment may serve as a powerful tool in the armamentarium. This review will start from fundamental concepts of iron in oxygen delivery and analyze evidence-based outcomes in CHF iron-directed therapeutic trials...
September 22, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28940095/diagnosis-and-treatment-of-iron-deficiency-anaemia-in-pregnancy-and-postpartum
#14
C Breymann, C Honegger, I Hösli, D Surbek
Iron deficiency occurs frequently in pregnancy and can be diagnosed by serum ferritin-level measurement (threshold value < 30 μg/L). Screening for iron-deficiency anemia is recommended in every pregnant women, and should be done by serum ferritin-level screening in the first trimester and regular hemoglobin checks at least once per trimester. In the case of iron deficiency with or without anaemia in pregnancy, oral iron therapy should be given as first-line treatment. In the case of severe iron-deficiency anemia, intolerance of oral iron, lack of response to oral iron, or in the case of a clinical need for rapid and efficient treatment of anaemia (e...
September 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28938674/network-meta-analysis-of-the-efficacy-and-adverse-effects-of-several-treatments-for-advanced-metastatic-prostate-cancer
#15
Jing Wu, Wei-Kang Chen, Wei Zhang, Jin-Song Zhang, Jian-He Liu, Yong-Ming Jiang, Ke-Wei Fang
This network meta-analysis was conducted to compare the efficacy and adverse effects of several treatments for advanced/metastatic prostate cancer (PC). The PubMed and Cochrane Library databases were searched for randomized controlled trials of treatments for advanced/metastatic PC. Eighteen studies covering 6,340 patients were included in this analysis. The calculated were odds ratios, 95% confidence intervals, and the surface under the cumulative ranking (SUCRA) curve. Pairwise meta-analysis showed that overall survival rates achieved with radiotherapy or endocrine therapy were lower than obtained with radiotherapy + endocrine therapy...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938364/the-role-of-tranexamic-acid-in-plastic-surgery-review-and-technical-considerations
#16
Rod J Rohrich, Min-Jeong Cho
Minimizing blood loss during surgery is critical, and many modalities have been used to decrease unwanted surgical bleeding. Among many methods, use of pharmacological agents such as anti-fibrinolytic drugs have been shown to significantly reduce blood loss and the rates of postoperative blood transfusion in many literatures. Tranexamic acid is an anti-fibrinolytic agent that has been widely used in other surgical specialties, especially in cardiac, orthopedic, and trauma surgery . Despite its known benefits, the use of tranexamic acid in plastic surgery is extremely limited, primarily because most plastic surgery procedures do not involve the extent of blood loss that can lead to anemia and the need for blood transfusion, as is common in major orthopedic and cardiac surgery procedures...
September 15, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28938283/effect-of-tranexamic-acid-on-transfusion-a-randomized-clinical-trial-in-acetabular-fracture-surgery
#17
William D Lack, Brett D Crist, Rachel B Seymour, William Harvin, Madhav A Karunakar
OBJECTIVES: Given the increasing evidence that minimizing blood loss and limiting allogeneic transfusion can improve patient outcome, we are performing a randomized controlled trial of the use of tranexamic acid (TXA) during acetabular fracture surgery. DESIGN: Prospective, multicenter, and randomized. SETTING: Two level I trauma centers. PARTICIPANTS: Eighty-eight patients underwent randomization, with 42 assigned to the TXA group and 46 assigned to the placebo group...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938257/childhood-visceral-leishmaniasis-distinctive-features-and-diagnosis-of-a-re-emerging-disease-an-11-year-experience-from-a-tertiary-referral-center-in-athens-greece
#18
Panagiotis Krepis, Adamantia Krepi, Ioanna Argyri, Anastasios Aggelis, Alexandra Soldatou, Maria Tsolia
BACKGROUND: Visceral leishmaniasis (VL) remains a public health issue in Greece. The aim of this study was to describe the clinical and epidemiological characteristics of pediatric VL in our region as well as to evaluate the laboratory findings and the diagnostic techniques that are applied. METHODS: We retrospectively reviewed the medical records of all children diagnosed with VL in an 11-year period at a tertiary public hospital in the region of Athens. Demographic features, clinical information and laboratory findings were accessed...
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28937855/eggshell-biliverdin-and-protoporphyrin-pigments-in-a-songbird-are-they-derived-from-erythrocytes-blood-plasma-or-the-shell-gland
#19
Rita Hargitai, Nóra Boross, Susanne Hámori, Eszter Neuberger, Zoltán Nyiri
Biliverdin and protoporphyrin pigments are deposited into the eggshell when the developing egg is in the shell gland. However, the site of synthesis of eggshell pigments is still uncertain, although it may influence the possible costs and potential functions of eggshell coloration in avian species. Eggshell pigments may be derived from red blood cells or be produced in other organs and then transferred to the shell gland, or they may be synthesized de novo in the shell gland. We studied in the canary (Serinus canaria) whether eggshell blue-green and brown pigmentations are associated with experimentally elevated anemia, female hematocrit level, immature erythrocyte percentage, and feces and plasma pigment levels during egg laying to find out the possible origin of eggshell pigments...
November 2017: Physiological and Biochemical Zoology: PBZ
https://www.readbyqxmd.com/read/28937522/ambulatory-high-dose-methotrexate-administration-in-pediatric-osteosarcoma-patients-at-a-single-institution-in-argentina
#20
Jose A Villegas Rubio, Walter Cacciavillano, Adriana Rose, Pedro Zubizarreta, Marcelo Scopinaro
BACKGROUND: The purpose of this study was to evaluate the feasibility and safety of ambulatory high-dose methotrexate (HDMTX) administration with oral hydration, alkalinization, and leucovorin rescue. HDMTX (12 g/m) was given intravenously over 4 hours after urine alkalinization. Families and patients were instructed to continue ambulatory oral hydration and alkalinization to monitor urine pH and to adjust bicarbonate according to our institution's treatment algorithm. Clinical status and MTX levels were controlled every 24 hours, and oral leucovorin dose was adjusted accordingly...
October 2017: Journal of Pediatric Hematology/oncology
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