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Chunhong Liu, Tao Yu, Zhuo Xing, Xiaoling Jiang, Yichen Li, Annie Pao, Justin Mu, Paul K Wallace, George Stoica, Andrei V Bakin, Y Eugene Yu
Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. The mouse has been used for modeling DS based on the syntenic conservation between human chromosome 21 (Hsa21) and three regions in the mouse genome located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. To assess the impact of the dosage increase of Hsa21 gene orthologs on the hematopoietic system, we characterized the related phenotype in the Dp(10)1Yey/+;Dp(16)1Yey/+;Dp(17)1Yey/+ model which carries duplications spanning the entire Hsa21 orthologous regions on Mmu10, Mmu16 and Mmu17, and the Dp(10)1Yey /+; Dp(16)1Yey /+; Dp(17)1Yey/+ ; Gata1 Yeym2 model which carries a Gata1s mutation we engineered...
January 12, 2018: Oncotarget
Ramdas Sarjerao Ransing, Suvarna Patil, Krishna Pevekar, Kshirod Mishra, Bharat Patil
Background: Mood disorders and psychosis has been reported among the patients with macrocytosis; however, its prevalence among the first episode of psychosis and depression is unknown. The purpose of the study was to establish the prevalence of macrocytosis among the patients with the first episode of depression and psychosis. Materials and Methods: In this cross-sectional study, three groups comprising patients with first episode of depression (n = 100), patients with the first episode of psychosis (n = 100), and healthy controls (n = 100) were included...
January 2018: Indian Journal of Psychological Medicine
E G O'Malley, S Cawley, R A K Kennedy, C M E Reynolds, A Molloy, M J Turner
Background: The World Health Organization recommends that women take 400 µg of folate supplementation daily throughout pregnancy. We examined the relationship between total folate intake from the diet and supplements at the first prenatal visit and haematological indices at this visit and subsequently. Methods: Women were recruited at their convenience and in addition to clinical and sociodemographic details, detailed questionnaires on dietary intakes and supplementation consumption were completed under supervision...
January 31, 2018: Journal of Public Health
Judith C W Marsh, Fernanda Gutierrez-Rodrigues, James Cooper, Jie Jiang, Shreyans Gandhi, Sachiko Kajigaya, Xingmin Feng, Maria Del Pilar F Ibanez, Flávia S Donaires, João P Lopes da Silva, Zejuan Li, Soma Das, Maria Ibanez, Alexander E Smith, Nicholas Lea, Steven Best, Robin Ireland, Austin G Kulasekararaj, Donal P McLornan, Anthony Pagliuca, Isabelle Callebaut, Neal S Young, Rodrigo T Calado, Danielle M Townsley, Ghulam J Mufti
Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTEL1 mutations to disease development are not well defined. We screened 516 patients for germline mutations in telomere-associated genes by next-generation sequencing in 2 independent cohorts; one constituting unselected patients with idiopathic BMF, unexplained cytopenia, or myeloid neoplasms (n = 457) and a second cohort comprising selected patients on the basis of the suspicion of constitutional/familial BMF (n = 59)...
January 9, 2018: Blood Advances
Rachel Culp-Hill, Connie Zheng, Julie A Reisz, Keith Smith, Angela Rachubinski, Travis Nemkov, Eric Butcher, Ross Granrath, Kirk C Hansen, Joaquín M Espinosa, Angelo D'Alessandro
Red blood cells (RBCs) are the most abundant cell in the human body. During their ∼120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity. Owing to the relative simplicity of their intrinsic metabolism and the abundance of metabolite transporters in RBC membranes, the metabolism of mature erythrocytes indirectly mirrors systemic metabolic homeostasis and its alterations as a function of physiological factors, such as aging. Trisomy 21 (T21), the etiological factor of Down syndrome (DS), has been shown to cause chronic autoinflammation, promoting alterations in RBC life span, size (macrocytosis), and redox homeostasis...
December 26, 2017: Blood Advances
Yada Thongyou, Fuanglada Tongprasert
OBJECTIVE: HIV-infected treatment with antiretroviral drugs is one of the common causes of macrocytosis. In patients receiving highly active antiretroviral therapy (HAART), the mean corpuscular volume (MCV) can be shifted from microcytic to normocytic or macrocytic after treatment and significantly affected the thalassemia screening. This study aimed to compare MCV between thalassemia-carrier and non-thalassemia-carrier antiretroviral drug-naïve, HIV-infected, pregnant women receiving HAART...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
Jesus Anampa, Tamanna Haque, Irina Murakhovskaya, Yanhua Wang, Kimo Bachiashvili, Cristian Papazoglu, Kith Pradhan, Ulrich G Steidl, Joseph A Sparano, Amit Verma
No abstract text is available yet for this article.
March 2018: Haematologica
Judith K Anchang-Kimbi, Vera Ngenwie Nkweti, Helen Ngum Ntonifor, Tobias O Apinjoh, Hanesh Fru Chi, Rolland Bantar Tata, Eric Akum Achidi
OBJECTIVE: Anaemia is a serious problem in pregnancy in malaria-endemic countries. This study investigated red cell morphologies and possible causes of anaemia among pregnant women at first clinic visit. Venous blood samples from consented women were used to determine haemoglobin (Hb) levels, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) using an automated haematology analyzer. Malaria parasitaemia was diagnosed by microscopy. Definitions were as follows: anaemia (Hb < 11...
November 29, 2017: BMC Research Notes
K E Lawrence, S F Forsyth, B L Vaatstra, Amj McFadden, D J Pulford, K Govindaraju, W E Pomroy
AIMS: To present the haematology and biochemistry profiles for cattle in New Zealand naturally infected with Theileria orientalis Ikeda type and investigate if the results differed between adult dairy cattle and calves aged <6 months. METHODS: Haematology and biochemistry results were obtained from blood samples from cattle which tested positive for T. orientalis Ikeda type by PCR, that were submitted to veterinary laboratories in New Zealand between October 2012 and November 2014...
January 2018: New Zealand Veterinary Journal
Arantza Sanvisens, Paola Zuluaga, Miriam Pineda, Daniel Fuster, Ferran Bolao, Jordi Juncà, Jordi Tor, Robert Muga
INTRODUCTION: Nutritional deficiency is frequent in patients with an alcohol use disorder (AUD). We aimed to analyze serum and erythrocyte folate deficiency in a case series of patients that initiated treatment of AUD. PATIENTS AND METHODS: A cross-sectional study in patients admitted for detoxification between 2007 and 2015 was performed. Sociodemographic characteristics, history of alcohol consumption, type of alcohol, and medical co-morbidity were assessed at admission...
November 1, 2017: Drug and Alcohol Dependence
Thein Hlaing Oo, Cristhiam Mauricio Rojas-Hernandez
Pernicious anemia (PA) is an autoimmune disease of multifactorial etiologies characterized by autoimmune chronic atrophic gastritis, cobalamin deficiency (CD) due to defective absorption of dietary cobalamin from the terminal ileum, and by the presence of intrinsic factor and parietal cell antibodies. PA is a very common cause of CD-related anemia worldwide. Despite advances in the understanding molecular biology and pathophysiology of PA, the diagnosis of PA remains challenging in many circumstances for many clinicians because of its diverse clinical manifestations and the limitations of currently available diagnostic tools...
September 2017: Discovery Medicine
Sean James Farrelly, Kieran Anthony O'Connor
Vitamin B12 deficiency is a recognised pathology in several populations, with a particular prevalence in an older adult population. We present two cases whereby vitamin B12 deficiency is the causative factor in marked pancytopaenia. Oval macrocytosis and hypersegmented neutrophils were noted on both peripheral blood samples, which are a characteristic finding in macrocytic anaemia due to B12 deficiency. Distinct underlying pathologies were identified in both cases; food-cobalamin malabsorption and pernicious anaemia...
August 17, 2017: BMJ Case Reports
Yilin Eileen Sim, Hide Elfrida Wee, Ai Leen Ang, Niresh Ranjakunalan, Biauw Chi Ong, Hairil Rizal Abdullah
INTRODUCTION: Preoperative anemia and high red cell distribution width (RDW) are associated with higher perioperative mortality. Conditions with high RDW levels can be categorized by mean corpuscular volume (MCV). The relationship between RDW, anemia and MCV may explain causality between high RDW levels and outcomes. We aim to establish the prevalence of preoperative anemia and distribution of RDW and MCV among pre-surgical patients in Singapore. In addition, we aim to investigate the association between preoperative anemia, RDW and MCV levels with one-year mortality after surgery...
2017: PloS One
Lilian S Catenacci, Aisla Nascimento, Elza S Muniz-Neta, Camila R Cassano, Sharon L Deem, Elizabeth S Travassos da Rosa, Patricia Parker, Alexandre D Munhoz
Bradypus torquatus is a rare and endemic sloth species from the Atlantic Forest, Brazil. Due to a lack of medical information including hematologic reference parameters for the species, hematologic baseline values were determined using samples from 14 clinically healthy B. torquatus , under captive (n = 7) and free-living (n = 7) conditions in Bahia State, Brazil. Additionally, the morphology of the blood cells is presented, with a demonstration that the Barr body chromosome may assist with sex determination of the species...
June 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Tihana Boraska Jelavić, Toni Boban, Luka Brčić, Eduard Vrdoljak
The aims of this study were to investigate a clinical observation that patients with epithelial ovarian cancer treated with first-line platinum-paclitaxel chemotherapy combination (TP) develop macrocytosis and to explore the possible predictive role of macrocytosis in response rate, progression-free survival (PFS), and overall survival. A retrospective analysis of laboratory and clinical data on 184 consecutive ovarian cancer patients treated with first-line TP chemotherapy in a single oncology center from 2004 to 2015 was carried out...
September 2017: Anti-cancer Drugs
Michelle C Cora, William Gwinn, Ralph Wilson, Debra King, Suramya Waidyanatha, Grace E Kissling, Sukhdev S Brar, Dorian Olivera, Chad Blystone, Greg Travlos
Black cohosh rhizome, available as a dietary supplement, is most commonly marketed as a remedy for dysmenorrhea and menopausal symptoms. A previous subchronic toxicity study of black cohosh dried ethanolic extract (BCE) in female mice revealed a dose-dependent ineffective erythropoiesis with a macrocytosis consistent with the condition known as megaloblastic anemia. The purpose of this study was to investigate potential mechanisms by which BCE induces these particular hematological changes. B6C3F1/N female mice (32/group) were exposed by gavage to vehicle or 1,000 mg/kg BCE for 92 days...
July 2017: Toxicologic Pathology
Francisco O Conrado, Amy L Weeden, Abbie L Speas, Mary K Leissinger
A 10-year-old, male neutered Shetland Sheepdog was presented to the University of Florida for evaluation of a well-granulated mast cell tumor. Hydroxyurea therapy was instituted and serial CBCs showed persistent mild anemia and macrocytosis without a corresponding increase in polychromasia. The dog's MCV increased progressively, reaching its highest value of 100.0 fL after 6 months of treatment, and a diagnosis of macrocytosis associated with hydroxyurea therapy was made. The dog's increase in MCV was prominent, and rapidly decreased after the drug was discontinued, consistent with previous observations in human and canine subjects treated with hydroxyurea...
June 5, 2017: Veterinary Clinical Pathology
R M Pellegrino, F Riondato, L Ferbo, M Boero, A Palmieri, L Osella, P Pollicino, B Miniscalco, G Saglio, A Roetto
Type 3 haemochromatosis (HFE3) is a rare genetic iron overload disease which ultimately lead to compromised organs functioning. HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2α and Tfr2β). Tfr2α is one of the hepatic regulators of iron inhibitor hepcidin. Tfr2β is an intracellular isoform of the protein involved in the regulation of iron levels in reticuloendothelial cells. It has been recently demonstrated that Tfr2 is also involved in erythropoiesis...
2017: BioMed Research International
Saskia Brunner-Agten, Thomas von Känel, Benno Röthlisberger, Charles Broquet, Andreas R Huber
We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c...
January 2017: Hemoglobin
E L Stanley, A E Eatroff
CASE REPORT: A male Domestic Short-hair cat was presented for chronic weight loss, lethargy and hyporexia. Complete haematological examination revealed non-regenerative anaemia, neutropenia and thrombocytopenia, as well as Howell-Jolly bodies, anisocytosis, polychromasia and macrocytosis on blood smear evaluation. Histopathological evaluation of bone marrow biopsy disclosed hypocellularity consistent with bone marrow failure. Concurrent hypocobalaminaemia was identified and treated with parenteral cyanocobalamin supplementation...
May 2017: Australian Veterinary Journal
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