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Thalassaemia

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https://www.readbyqxmd.com/read/28050380/coincidental-finding-of-beta-thalassaemia-minor-in-a-patient-of-lacquer-thinner-poisoning-presenting-as-methaemoglobinemia
#1
Charu Agarwal, Anisha Mohanpuria, Gurdeep Buxi, Vijay Kumar
Lacquer thinner, commonly used for removing household paints, is known to contain various aromatic hydrocarbons and naphtha; if ingested, may cause methaemoglobinemia. We report a case of 13-year-old girl who presented with episodes of vomiting, abdominal pain and numbness of limbs. Peripheral blood smear showed few fragmented erythrocytes and 10-12 nucleated red blood cells /100 white blood cells. Reticulocyte count was 15% with presence of Heinz bodies. There was a history of accidental ingestion of lacquer paint thinner...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28050370/an-unusual-case-of-septic-arthritis-of-the-hip
#2
Ujjwayini Ray, Soma Dutta, Arpita Sutradhar
Non-typhoidal Salmonella, particularly Salmonella enterica serovar typhimurium is food borne pathogen causing mild self-limiting diarrhoea in healthy adults. It can occasionally cause extraintestinal focal infection in susceptible patients. Salmonella, as the aetiological agent of osteomyelitis and septic arthritis is rare and has been mostly reported in patients with sickle cell disease or thalassaemia. We report a case of septic arthritis by Salmonellatyphimurium in an immunocompromised patient who was successfully treated following timely isolation and identification of the aetiological agent...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28007020/hb-a2-episkopi-a-novel-%C3%AE-globin-chain-variant-hbd-c-428c-t-in-a-family-of-mixed-cypriot-lebanese-descent
#3
Carsten W Lederer, Eleni Pavlou, George A Tanteles, Paola Evangelidou, Carolina Sismani, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Michael Hadjigavriel, Marina Kleanthous
OBJECTIVES: Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A2, combining α- with δ-globin, is critical for the routine diagnosis of carrier status for α- or β-thalassaemia. Here, we aim to characterize a novel δ-globin variant, Hb A2 Episkopi, in a single family of mixed Lebanese and Cypriot ancestry with mild hypochromic anaemia and otherwise normal globin genotype, which also presents with a coincidental 0...
December 22, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27989690/comparing-the-efficacy-of-tadalafil-versus-placebo-on-pulmonary-artery-systolic-pressure-and-right-ventricular-function-in-patients-with-beta-thalassaemia-intermedia
#4
Rozita Jalalian, Ali Akbar Moghadamnia, Ahmad Tamaddoni, Soraya Khafri, Mohammadreza Iranian
BACKGROUND: Conventional oral therapies in the management of pulmonary hypertension in people without haemoglobinopathies are of limited value in thalassaemia patients because of toxicity and poor effectiveness. This study was conducted to assess the effect of tadalafil on pulmonary artery pressure and right ventricular systolic function in patients with beta-thalassaemia intermedia. METHODS: Forty-four patients with beta-thalassaemia intermedia with pulmonary hypertension based on transthoracic echocardiography (TTE) were entered in the study...
December 2, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/27984631/interim-assessment-of-liver-damage-in-patients-with-sickle-cell-disease-using-new-non-invasive-techniques
#5
Emma Drasar, Emer Fitzpatrick, Kate Gardner, Moji Awogbade, Anil Dhawan, Adrian Bomford, Abid Suddle, Swee L Thein
We explored transient elastography (TE) and enhanced liver fibrosis (ELF(™) ) score with standard markers of liver function to assess liver damage in 193 well patients with sickle cell disease (SCD). Patients with HbSS or HbSβ(0) thalassaemia (sickle cell anaemia, SCA; N = 134), had significantly higher TE results and ELF scores than those with HbSC (N = 49) disease (TE, 6·8 vs. 5·3, P < 0·0001 and ELF, 9·2 vs. 8·6 P < 0·0001). In SCA patients, TE and ELF correlated significantly with age and all serum liver function tests (LFTs)...
December 16, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27970660/viewpoints-of-thalassaemia-patients-on-the-combination-of-traditional-complementary-medicine-t-cm-with-the-conventional-thalassaemia-treatment-a-qualitative-understanding-approach
#6
wI Ismail, M A Hassali, M Farooqui, F Saleem
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27966384/secondary-erythrocytosis-caused-by-hemoglobin-tak-%C3%AE-0-thalassaemia-disease-during-pregnancy-a-case-report
#7
Fuanglada Tongprasert, Pimlak Charoenkwan, Kasemsri Srisupundit, Adisak Tantiworawit
No abstract text is available yet for this article.
December 14, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27932515/genotoxic-effect-of-iron-overload-and-disease-complications-in-transfused-%C3%AE-thalassaemic-patients
#8
Elisa Ferro, Giuseppa Visalli, Maria Angela La Rosa, Basilia Piraino, Rosa Civa, Gaetano Randazzo Papa, Angela Di Pietro
In previously reported studies, we observed significantly high genotoxicity biomarkers in regularly transfused thalassaemic patients, thus, in this study, we better investigated the genotoxic effect of iron overload and of thalassaemia complications, including their drug treatments. The assessment was performed in 64 regularly transfused thalassaemic patients using cytokinesis-block micronucleus and comet assays. All patients were splenectomised and undergoing iron chelation therapy. To reduce hypoxia-induced oxidative damage, the patients with haemoglobin levels <9...
December 8, 2016: Mutagenesis
https://www.readbyqxmd.com/read/27922147/factors-affecting-quality-of-life-in-adult-patients-with-thalassaemia-major-and-intermedia
#9
Gin Gin Gan, Yuen Ling Hue, Jameela Sathar
No abstract text is available yet for this article.
November 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27917462/iron-overload-across-the-spectrum-of-non-transfusion-dependent-thalassaemias-role-of-erythropoiesis-splenectomy-and-transfusions
#10
John B Porter, Maria Domenica Cappellini, Antonis Kattamis, Vip Viprakasit, Khaled M Musallam, Zewen Zhu, Ali T Taher
Non-transfusion-dependent thalassaemias (NTDT) encompass a spectrum of anaemias rarely requiring blood transfusions. Increased iron absorption, driven by hepcidin suppression secondary to erythron expansion, initially causes intrahepatic iron overload. We examined iron metabolism biomarkers in 166 NTDT patients with β thalassaemia intermedia (n = 95), haemoglobin (Hb) E/β thalassaemia (n = 49) and Hb H syndromes (n = 22). Liver iron concentration (LIC), serum ferritin (SF), transferrin saturation (TfSat) and non-transferrin-bound iron (NTBI) were elevated and correlated across diagnostic subgroups...
December 5, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#11
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27892944/veno-occlusive-disease-sinusoidal-obstruction-syndrome-after-haematopoietic-stem-cell-transplantation-middle-east-north-africa-regional-consensus-on-prevention-diagnosis-and-management
#12
A H Al Jefri, H Abujazar, A Al-Ahmari, A Al Rawas, Z Al Zahrani, A Alhejazi, M A Bekadja, A Ibrahim, M Lahoucine, S Ousia, A Bazarbachi
Veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) of the liver is a serious, early complication of haematopoietic stem cell transplantation (HSCT), severe and very severe forms of which are associated with a high mortality rate. A wide variety of patient, disease and treatment-related risk factors for VOD/SOS have been identified. Several bodies have published recommendations for the diagnosis, prevention and management of VOD/SOS following HSCT. A group of regional experts have developed a consensus statement on the diagnosis, prevention and management of VOD/SOS in the Middle East and North Africa region to help in the management of HSCT patients in the region...
November 28, 2016: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/27890718/thalassaemia-screening-and-confirmation-of-carriers-in-parents
#13
REVIEW
Angela N Barrett, Ramasamy Saminathan, Mahesh Choolani
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA2 and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27881236/deferasirox-pharmacokinetics-evaluation-in-a-woman-with-hereditary-haemochromatosis-and-heterozygous-%C3%AE-thalassaemia
#14
Sarah Allegra, Silvia De Francia, Filomena Longo, Davide Massano, Jessica Cusato, Arianna Arduino, Elisa Pirro, Antonio Piga, Antonio D'Avolio
We present the deferasirox pharmacokinetics evaluation of a female patient on iron chelation, for the interesting findings from her genetic background (hereditary haemochromatosis and heterozygous β-thalassaemia) and clinical history (ileostomy; iron overload from transfusions). Drug plasma concentrations were measured by an HPLC-UV validated method, before and after ileum resection. Area under deferasirox concentration curve over 24h (AUC) values were determined by the mixed log-linear rule, using Kinetica software...
December 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27859648/limitations-of-serum-ferritin-to-predict-liver-iron-concentration-responses-to-deferasirox-therapy-in-patients-with-transfusion-dependent-thalassemia
#15
John B Porter, Mohsen Elalfy, Ali Taher, Yesim Aydinok, Szu-Hee Lee, Pranee Sutcharitchan, Ali El-Ali, Jackie Han, Amal El-Beshlawy
BACKGROUND: In transfusion-dependent anaemias, while absolute serum ferritin levels broadly correlate with liver iron concentration (LIC), relationships between trends in these variables are unclear. These relationships are important because serum ferritin changes are often used to adjust or switch chelation regimens when liver magnetic resonance imaging (MRI) is unavailable. OBJECTIVES AND METHODS: This post-hoc analysis of the EPIC study compared serum ferritin and LIC in 317 patients with transfusion-dependent thalassaemia before and after 1 year of deferasirox...
November 17, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27847257/new-trend-in-the-epidemiology-of-thalassaemia
#16
REVIEW
Chi-Kong Li
Thalassaemia is the most common monogenic disorder worldwide. It is common in areas with prevalent malaria as thalassaemic red cells provide immunity against the parasite. The incidence of thalassaemia carriers is high in regions such as Mediterranean, Middle East, Indian subcontinent, Southeast Asia and South China. In the past few decades, migrants from the thalassaemia prevalent countries to non-prevalent countries, mainly North America and Central and North Europe, are rapidly increasing in number. The non-prevalent countries may not have established pre-natal screening system for thalassaemia...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27820943/crispr-cas9-%C3%AE-globin-gene-targeting-in-human-haematopoietic-stem-cells
#17
Daniel P Dever, Rasmus O Bak, Andreas Reinisch, Joab Camarena, Gabriel Washington, Carmencita E Nicolas, Mara Pavel-Dinu, Nivi Saxena, Alec B Wilkens, Sruthi Mantri, Nobuko Uchida, Ayal Hendel, Anupama Narla, Ravindra Majeti, Kenneth I Weinberg, Matthew H Porteus
The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene correction in patient-derived haematopoietic stem cells followed by autologous transplantation could be used to cure β-haemoglobinopathies. Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the HBB gene in haematopoietic stem cells...
November 17, 2016: Nature
https://www.readbyqxmd.com/read/27796853/newborn-screening-for-sickle-cell-disease-in-jamaica-logistics-and-experience-with-umbilical-cord-samples
#18
G R Serjeant, B E Serjeant, K P Mason, R Gardner, L Warren, F Gibson, M Coombs
The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin)...
October 29, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27790543/avascular-necrosis-of-femoral-head-in-a-child-with-beta-thalassaemia-major
#19
Adharsh Narain Thulasidhar, Sandeep Kumar, Shrikiran Aroor, Suneel Mundkur
No abstract text is available yet for this article.
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27782131/in-vivo-correction-of-anaemia-in-%C3%AE-thalassemic-mice-by-%C3%AE-pna-mediated-gene-editing-with-nanoparticle-delivery
#20
Raman Bahal, Nicole Ali McNeer, Elias Quijano, Yanfeng Liu, Parker Sulkowski, Audrey Turchick, Yi-Chien Lu, Dinesh C Bhunia, Arunava Manna, Dale L Greiner, Michael A Brehm, Christopher J Cheng, Francesc López-Giráldez, Adele Ricciardi, Jagadish Beloor, Diane S Krause, Priti Kumar, Patrick G Gallagher, Demetrios T Braddock, W Mark Saltzman, Danith H Ly, Peter M Glazer
The blood disorder, β-thalassaemia, is considered an attractive target for gene correction. Site-specific triplex formation has been shown to induce DNA repair and thereby catalyse genome editing. Here we report that triplex-forming peptide nucleic acids (PNAs) substituted at the γ position plus stimulation of the stem cell factor (SCF)/c-Kit pathway yielded high levels of gene editing in haematopoietic stem cells (HSCs) in a mouse model of human β-thalassaemia. Injection of thalassemic mice with SCF plus nanoparticles containing γPNAs and donor DNAs ameliorated the disease phenotype, with sustained elevation of blood haemoglobin levels into the normal range, reduced reticulocytosis, reversal of splenomegaly and up to 7% β-globin gene correction in HSCs, with extremely low off-target effects...
October 26, 2016: Nature Communications
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