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inheritance of blood groups

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https://www.readbyqxmd.com/read/28327364/telomere-length-analysis-in-down-syndrome-birth
#1
Pranami Bhaumik, Mandar Bhattacharya, Priyanka Ghosh, Sujoy Ghosh, Subrata Kumar Dey
Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique...
March 19, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28316434/comparison-of-deferasirox-and-deferoxamine-effects-on-iron-overload-and-immunological-changes-in-patients-with-blood-transfusion-dependent-%C3%AE-thalassemia
#2
Hayder M Al-Kuraishy, Ali I Al-Gareeb
INTRODUCTION: Beta-thalassemias are a cluster of inherited (autosomal recessive) hematological disorders prevalent in the Mediterranean area due to defects in synthesis of β chains of hemoglobin. The aim of present study was to compare the effects of deferasirox and deferoxamine on iron overload and immunological changes in patients with blood transfusion-dependent β-thalassemia major and intermedia. PATIENTS AND METHODS: This study involved 64 patients with known cases of β-thalassemia major or intermedia that has been treated with blood transfusion and iron chelators...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28279308/detection-of-somatic-variants-in-peripheral-blood-lymphocytes-using-a-next-generation-sequencing-multigene-pan-cancer-panel
#3
Bradford Coffee, Hannah C Cox, John Kidd, Scott Sizemore, Krystal Brown, Susan Manley, Debora Mancini-DiNardo
Next Generation Sequencing (NGS) multigene panels, which are routinely used to assess hereditary cancer risk, can detect both inherited germline variants and somatic variants in cancer-risk genes. We evaluated the frequency and distribution of likely somatic Pathogenic and Likely Pathogenic variants (PVs) detected in >220,000 individuals who underwent clinical testing with a 25-gene panel between September 2013 and March 2016. Likely somatic PVs are defined as variants with NGS read frequencies from 10% to 30%...
February 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28267383/whole-exome-sequencing-identifies-a-mutation-in-thrombomodulin-as-the-genetic-cause-of-a-suspected-platelet-disorder-in-a-family-with-normal-platelet-function
#4
Annabel Maclachlan, Gerry Dolan, Charlotte Grimley, Steve P Watson, Neil V Morgan, On Behalf Of The Uk Gapp Study Group
Here, we describe a mother and son with a lifelong bleeding tendency and posttraumatic bleeding who were recruited to the UK Genotyping and Phenotyping of Platelets (GAPP) study with a suspected platelet function disorder. However, despite a clinically significant bleeding score, both had normal platelet counts and normal platelet function. The patients' blood was analyzed by light transmission aggregometry and genotyping by whole exome sequencing, as outlined by the GAPP study. Approximately 25 000 genetic variants were found for each patient as a result of sequencing and were filtered using a specialized bioinformatics pipeline...
March 7, 2017: Platelets
https://www.readbyqxmd.com/read/28256747/elbasvir-grazoprevir-for-patients-with-hepatitis-c-virus-infection-and-inherited-blood-disorders-a-phase-iii-study
#5
Christophe Hézode, Massimo Colombo, Marc Bourlière, Ulrich Spengler, Ziv Ben-Ari, Simone I Strasser, William M Lee, Leslie Morgan, Jingjun Qiu, Peggy Hwang, Michael Robertson, Bach-Yen Nguyen, Eliav Barr, Janice Wahl, Barbara Haber, Robert Chase, Rohit Talwani, Vito Di Marco
Direct-acting antiviral agents have not been studied exclusively in patients with inherited blood disorders and hepatitis C virus (HCV) infection. The objective of the randomized, placebo-controlled, phase III C-EDGE IBLD study was to assess the safety and efficacy of elbasvir/grazoprevir (EBR/GZR) in patients with inherited bleeding disorders and HCV infection. One hundred fifty-nine adults with HCV infection and sickle cell anemia, thalassemia, or hemophilia A/B or von Willebrand disease were enrolled at 31 study sites in the United States, Europe, Australia, Canada, Israel, and Thailand...
March 3, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28217596/distribution-of-abo-and-rh-types-in-voluntary-blood-donors-in-jharkhand-area-as-a-study-conducted-by-rims-ranchi
#6
Anu Singh, Ramesh Kumar Srivastava, Kabita S Deogharia, Kranti Kumar Singh
BACKGROUND: This study was done to know the distribution and frequencies of blood groups among blood donors attending voluntary blood donation camps organized by the Rajendra Institute of Medical Sciences (RIMS), Ranchi, Jharkhand so that demand and supply ratio of the four blood groups can be maintained so that no patient dies due to lack of a particular blood group. CONTEXT: Up till now about 400 red cells antigen have been identified. The majority follow Mendelian inheritance...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28196416/blood-proteomic-profiling-in-inherited-attrm-and-acquired-attrwt-forms-of-transthyretin-associated-cardiac-amyloidosis
#7
Gloria G Chan, Clarissa M Koch, Lawreen H Connors
Transthyretin-associated forms of cardiac amyloidosis are fatal protein misfolding diseases that can be inherited (ATTRm) or acquired (ATTRwt). An accurate diagnosis of ATTR amyloidosis can be challenging as biopsy evidence, usually from the affected organ, is required. Precise biomarkers for ATTR disease identification and monitoring are undiscovered, disease-specific therapeutic options are needed, and the current understanding of ATTR molecular pathogenesis is limited. The aim of this study was to investigate and compare the serum proteomes in ATTRm and ATTRwt cardiac amyloidosis to identify differentially expressed blood proteins that were disease-specific...
February 23, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28179280/gata-factor-mutations-in-hematologic-disease
#8
John D Crispino, Marshall S Horwitz
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1,2 and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder and a group of related congenital dyserythropoietic anemias with thrombocytopenia...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28130397/melt-with-this-kiss-paralysing-and-liquefying-venom-of-the-assassin-bug-pristhesancus-plagipennis-hemiptera-reduviidae
#9
Andrew A Walker, Bruno Madio, Jiayi Jin, Eivind A B Undheim, Bryan G Fry, Glenn F King
Assassin bugs (Hemiptera: Heteroptera: Reduviidae) are venomous insects, most of which prey on invertebrates. Assassin bug venom has features in common with venoms from other animals, such as paralysing and lethal activity when injected, and a molecular composition that includes disulfide-rich peptide neurotoxins. Uniquely, this venom also has strong liquefying activity that has been hypothesised to facilitate feeding through the narrow channel of the proboscis - a structure inherited from sap- and phloem-feeding phytophagous hemipterans and adapted during the evolution of Heteroptera into a fang and feeding structure...
January 27, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28127141/blood-group-change-in-acute-myeloid-leukemia
#10
Rakul K Nambiar, Geetha Narayanan, N P Prakash, K Vijayalakshmi
Blood group antigens are either sugars or proteins found attached to the red blood cell membrane. ABO blood group antigens are the most clinically important antigens because they are the most immunogenic. As red blood cell antigens are inherited traits, they are usually not altered throughout the life of an individual. There have been occasional case reports of ABO blood group antigen change in malignant conditions. We report two such cases of ABO antigen alteration associated with acute myeloid leukemia. These patients had suppression of their blood group antigens during their leukemic phase, and the antigens were reexpressed when the patients attained remission...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28115275/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-cell-transplantation-for-inherited-bone-marrow-failure-syndromes-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference
#11
REVIEW
Andrew C Dietz, Parinda A Mehta, Adrianna Vlachos, Sharon A Savage, Dorine Bresters, Jakub Tolar, Farid Boulad, Jean Hugues Dalle, Carmem Bonfim, Josu de la Fuente, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are 3 of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life, these patients face a variety of medical conditions, which may be a manifestation of underlying disease or due to pre-HCT therapy, the HCT, or a combination of all these elements. Very limited long-term follow-up data exist in these populations, with FA the only IBMFS that has specific published data...
January 20, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28105926/the-gene-expression-profile-of-renal-medulla-in-isiah-rats-with-inherited-stress-induced-arterial-hypertension
#12
Marina A Ryazanova, Larisa A Fedoseeva, Nikita I Ershov, Vadim M Efimov, Arcady L Markel, Olga E Redina
BACKGROUND: The changes in the renal function leading to a reduction of medullary blood flow can have a great impact on sodium and water homeostasis and on the long-term control of arterial blood pressure. The RNA-Seq approach was used for transcriptome profiling of the renal medulla from hypertensive ISIAH and normotensive WAG rats to uncover the genetic basis of the changes underlying the renal medulla function in the ISIAH rats being a model of the stress-sensitive arterial hypertension and to reveal the genes which possibly may contribute to the alterations in medullary blood flow...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#13
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28075532/clinical-and-biochemical-characterization-of-the-prothrombin-belgrade-mutation-in-a-large-serbian-pedigree-new-insights-into-the-antithrombin-resistance-mechanism
#14
P Miljic, M Gvozdenov, Y Takagi, A Takagi, I Pruner, M Dragojevic, B Tomic, J Bodrozic, T Kojima, D Radojkovic, V Djordjevic
Essentials Prothrombin Belgrade mutation leads to antithrombin resistance. Clinical and biochemical phenotypes in a large family with this mutation were investigated. In carriers, we detected decreased factor II activity and increased endogenous thrombin potential. Prothrombin Belgrade mutation represents a strong prothrombotic risk factor. SUMMARY: Background The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade)...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28070903/myocardial-deformation-in-pediatric-patients-with-mucopolysaccharidoses-a-two-dimensional-speckle-tracking-echocardiography-study
#15
Francesco Borgia, Enrica Pezzullo, Vincenzo Schiano Lomoriello, Regina Sorrentino, Francesco Lo Iudice, Sara Cocozza, Roberto Della Casa, Giancarlo Parenti, Pietro Strisciuglio, Bruno Trimarco, Maurizio Galderisi
BACKGROUND: Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders caused by deficiency of required glycosaminoglycans breakdown enzymes, inducing cardiac involvement. Little is known about myocardial deformation involvement in MPS. Our aim was to assess biventricular structure and function in asymptomatic children with MPS using standard echo Doppler and 2D speckle tracking (STE). METHODS: Fifteen MPS children (one type I, six type II, three type III A, one III B, three IV A, one VI), asymptomatic for cardiac symptoms, and 15 age and sex-matched healthy controls underwent echo Doppler and STE...
January 10, 2017: Echocardiography
https://www.readbyqxmd.com/read/28067393/longitudinal-assessment-of-metal-concentrations-and-copper-isotope-ratios-in-the-g93a-sod1-mouse-model-of-amyotrophic-lateral-sclerosis
#16
T Gabriel Enge, Heath Ecroyd, Dianne F Jolley, Justin J Yerbury, Anthony Dosseto
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease, which involves progressive motor neuron degeneration in the central nervous system (CNS). The G93A SOD1 mouse model simulates one of the most common causes of familial ALS through the overexpression of a mutated form of the human gene encoding copper/zinc superoxide dismutase (SOD1). Transition metals, particularly Cu and Zn, have been shown to behave abnormally in the disease context and have been hypothesized to contribute to and potentially trigger the disease...
January 9, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28050399/the-effect-of-consanguineous-marriage-on-mental-health-among-the-students-of-the-shahrekord-university-of-medical-sciences
#17
Maryam Hosseinpour, Fatemeh Deris, Kamal Solati-Dehkordi, Sheida Heidari-Soreshjani, Negar Karimi, Hossein Teimori
INTRODUCTION: In Iran, after unintentional accidents, mental health problems are the second leading burden of disease. Consanguineous marriage is very common in Iran and the association between parental consanguinity and mental health is an important issue that has not yet been studied sufficiently in Iran. AIM: To investigate the effect of consanguinity and the degree of relationship on different levels of mental health. MATERIALS AND METHODS: In this cross-sectional study, conducted in the Shahrekord University of Medical Sciences, two groups of students were enrolled...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28024295/characterization-of-two-novel-fancg-mutations-in-indian-fanconi-anemia-patients
#18
Avani Solanki, C Kumar Selvaa, Frenny Sheth, Nita Radhakrishnan, Manas Kalra, Babu Rao Vundinti
FA is a rare recessive genetic disorder with autosomal or X-linked mode of inheritance and is associated with 19 different FA complementation groups. We have studied three patients clinically diagnosed as FA. All three patients showed a high frequency chromosomal breakage in MMC induced blood cultures and FANCD2 non-monoubiquitination by western blotting. The molecular analysis using direct sequencing revealed two novel mutations in FANCG; 2 novel mutations c.1143+5G>C and c.883dupG, and a reported mutation c...
November 29, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27959767/variation-in-pcsk9-and-hmgcr-and-risk-of-cardiovascular-disease-and-diabetes
#19
Brian A Ference, Jennifer G Robinson, Robert D Brook, Alberico L Catapano, M John Chapman, David R Neff, Szilard Voros, Robert P Giugliano, George Davey Smith, Sergio Fazio, Marc S Sabatine
Background Pharmacologic inhibitors of proprotein convertase subtilisin-kexin type 9 (PCSK9) are being evaluated in clinical trials for the treatment of cardiovascular disease. The effect of lowering low-density lipoprotein (LDL) cholesterol levels by inhibiting PCSK9 on the risk of cardiovascular events or diabetes is unknown. Methods We used genetic scores consisting of independently inherited variants in the genes encoding PCSK9 and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR; the target of statins) as instruments to randomly assign 112,772 participants from 14 studies, with 14,120 cardiovascular events and 10,635 cases of diabetes, to groups according to the number of LDL cholesterol-lowering alleles that they had inherited...
December 1, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27940953/genetic-invalidation-of-lp-pla2-as-a-therapeutic-target-large-scale-study-of-five-functional-lp-pla2-lowering-alleles
#20
John M Gregson, Daniel F Freitag, Praveen Surendran, Nathan O Stitziel, Rajiv Chowdhury, Stephen Burgess, Stephen Kaptoge, Pei Gao, James R Staley, Peter Willeit, Sune F Nielsen, Muriel Caslake, Stella Trompet, Linda M Polfus, Kari Kuulasmaa, Jukka Kontto, Markus Perola, Stefan Blankenberg, Giovanni Veronesi, Francesco Gianfagna, Satu Männistö, Akinori Kimura, Honghuang Lin, Dermot F Reilly, Mathias Gorski, Vladan Mijatovic, Patricia B Munroe, Georg B Ehret, Alex Thompson, Maria Uria-Nickelsen, Anders Malarstig, Abbas Dehghan, Thomas F Vogt, Taishi Sasaoka, Fumihiko Takeuchi, Norihiro Kato, Yoshiji Yamada, Frank Kee, Martina Müller-Nurasyid, Jean Ferrières, Dominique Arveiler, Philippe Amouyel, Veikko Salomaa, Eric Boerwinkle, Simon G Thompson, Ian Ford, J Wouter Jukema, Naveed Sattar, Chris J Packard, Abdulla Al Shafi Majumder, Dewan S Alam, Panos Deloukas, Heribert Schunkert, Nilesh J Samani, Sekar Kathiresan, Børge G Nordestgaard, Danish Saleheen, Joanna Mm Howson, Emanuele Di Angelantonio, Adam S Butterworth, John Danesh
AIMS: Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A2 (Lp-PLA2), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA2 enzyme activity is causally relevant to coronary heart disease. METHODS: In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7, the gene encoding Lp-PLA2...
December 11, 2016: European Journal of Preventive Cardiology
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