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Thalassaemia

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https://www.readbyqxmd.com/read/28643460/periodic-limb-movement-in-sleep-and-sickle-cell-disease-a-neglected-association
#1
Ana C Cabañas-Pedro, Suely Roizenblatt, Altay A L de Souza, Sérgio Tufik, Maria S Figueiredo
High frequency of periodic limb movements in sleep (PLMS) has been described among children with sickle cell disease (SCD), but there is little information about PLMS among adults with SCD. We aim to determine the frequency of PLMS among adults with SCD and to identify possible associations with iron status and haemolytic parameters. We analysed polysomnography on 99 adults: 74 with sickle cell anaemia (HbSS), 19 with HbSC (double heterozygosis HbS and HbC) and 6 with HbS-beta thalassaemia. Laboratory data were collected close to the time of the polysomnography examination...
June 23, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28643346/red-blood-cells-free-%C3%AE-haemoglobin-pool-a-biomarker-to-monitor-the-%C3%AE-thalassemia-intermedia-variability-the-alphapool-study
#2
Corinne Vasseur, Elisa Domingues-Hamdi, Katia Ledudal, Philippe Le Corvoisier, Caroline Barau, Bijan Ghaleh, Amandine Rialland, Serge Pissard, Frédéric Galactéros, Véronique Baudin-Creuza
The severity of β-thalassaemia (β-thal) intermedia is mainly correlated to the degree of imbalanced α/non α-globin chain synthesis. The phenotypic diversity of β-thal depends on this imbalance and reflects all possible combinations of α- and β-globin genotypes, levels of fetal haemoglobin (HbF) and co-inheritance of other modulating factors. This study aimed to demonstrate the validity of a new surrogate of α/non α-globin biosynthetic ratio by measuring the soluble α-Hb pool in lysed red blood cells...
June 23, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28620953/molecular-characterisation-of-%C3%AE-and-%C3%AE-thalassaemia-among-indigenous-senoi-orang-asli-communities-in-peninsular-malaysia
#3
Danny Xuan Rong Koh, Raja Zahratul Azma Raja Sabudin, Malisa Mohd Yusoff, Noor Hamidah Hussin, Rahimah Ahmad, Ainoon Othman, Endom Ismail
Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn)...
June 16, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28599577/a-retrospective-comparison-of-pregnancy-outcomes-between-women-with-alpha-thalassaemia-1-trait-and-normal-controls
#4
Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
The objective of this retrospective cohort study was to compare pregnancy outcomes between low-risk pregnant women with alpha-thalassaemia-1 trait and normal controls. The database of the Maternal-Foetal Medicine unit was used to identify low-risk singleton pregnant women complicated by alpha-thalassaemia-1 trait who gave birth between January 2002 and October 2014. The low-risk pregnancies with non-carrier status for thalassaemia were assigned into the control group, with a control-to-case ratio of 10:1. During the study period, 595 women with alpha-thalassaemia-1 trait and 5950 normal controls were identified...
June 9, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28548214/the-performance-of-malbac-and-mda-methods-in-the-identification-of-concurrent-mutations-and-aneuploidy-screening-to-diagnose-beta-thalassaemia-disorders-at-the-single-and-multiple-cell-levels
#5
WeiQiang Liu, HuiMin Zhang, Dan Hu, SiJia Lu, XiaoFang Sun
AIM: To select an optimal whole-genome amplification (WGA) method to improve the efficiency of the preimplantation genetic diagnosis and screening (PGD/PGS) of beta-thalassaemia disorders. METHODS: Fifty-seven fibroblast samples with defined beta-thalassaemia variations and forty-eight single-blastomere samples were amplified from single-, two-, and five-cell samples by multiple annealing and looping-based amplification cycles (MALBAC) and the multiple displacement amplification (MDA) method...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28544032/prevalence-of-diabetes-mellitus-in-chinese-children-with-thalassaemia-major
#6
Yuzhen Liang, Rekha Bajoria, Yan Jiang, Hongwei Su, Hongfei Pan, Ning Xia, Ratna Chatterjee, Yongrong Lai
OBJECTIVE: Diabetes mellitus is a common endocrinopathy in patients with β-thalassaemia major (β-TM), which is high prevalent in southern China. This study aimed to determine the cause and prevalence of glycaemic disorders in Chinese children with β-TM. METHODS: In this prospective study, fasting glucose and insulin (FINS) levels were assessed in 267 β-TM and 80 non-TM control children. Homeostatic model assessment (HOMA) and the quantitative insulin sensitivity check index (QUICKI) were evaluated...
May 22, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28541483/malaria-host-candidate-genes-validated-by-association-with-current-recent-and-historic-measures-of-transmission-intensity
#7
Nuno Sepúlveda, Alphaxard Manjurano, Susana G Campino, Martha Lemnge, John Lusingu, Raimos Olomi, Kirk A Rockett, Christina Hubbart, Anna Jeffreys, Kate Rowlands, Taane G Clark, Eleanor M Riley, Chris J Drakeley
Background: Human malaria susceptibility is determined by multiple genetic factors. It is however unclear which genetic variants remain important over time. Methods: Genetic associations of 175 high quality polymorphisms within several malaria candidate genes were examined in a sample of 8,096 individuals from northeast Tanzania using altitude, seroconversion rates and parasite rates as proxies of historical, recent and current malaria transmission intensity. A principal component (PC) analysis was used to derive two alternative measures of overall malaria propensity of a location across different time scales...
May 25, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#8
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
April 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28502664/the-utility-of-susceptibility-weighted-imaging-to-evaluate-the-extent-of-iron-accumulation-in-the-choroid-plexus-of-patients-with-%C3%AE-thalassaemia-major
#9
Z I Hasiloglu, M Asik, E Ure, F Ertem, H Apak, S Albayram
AIM: To assess iron accumulation in the choroid plexus of β-thalassaemia patients using fast spin echo (FSE) T2-weighted, gradient echo (GRE) T2*-weighted, susceptibility-weighted imaging (SWI) and compare the results. MATERIALS AND METHODS: Eighteen patients with transfusion-dependent β-thalassaemia and the control group underwent magnetic resonance imaging (MRI) examinations. Signal intensities were separately evaluated using a "number of hypointensity in the choroid plexus" (NHICP) grading system on axial FSE T2-weighted, GRE T2*-weighted, and SWI images...
May 11, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28480998/evaluation-of-osmocells-a-new-semi-automatic-device-for-osmotic-fragility-assessment
#10
D Gérard, A-J Fattet, C Brakta, A Phulpin, D Steschenko, J-F Lesesve, J Perrin
INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method...
May 8, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28471307/pattern-of-complications-and-burden-of-disease-in-patients-affected-by-beta-thalassemia-major
#11
Fedele Bonifazi, Rosa Conte, Paola Baiardi, Donato Bonifazi, Mariagrazia Felisi, Paola Giordano, Viviana Giannuzzi, Angela Iacono, Rosa Padula, Alessia Pepe, Maria Caterina Putti, Lucia Ruggieri, Giovanni Carlo Del Vecchio, Aldo Filosa, Aurelio Maggio, Adriana Ceci
OBJECTIVES: Despite the correct application of blood transfusions and chelation treatments, beta thalassemia patients have many complications. Systematic population analyses on types and frequency of these complications are very few. The aim of this study is to characterize the complications, their risk factors and their clinical and economic impact. METHODS: Complications at baseline and events occurring during one observational year were analyzed in 272 patients aged >12 years...
June 7, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28466968/clinical-and-genetic-predictors-of-renal-dysfunctions-in-sickle-cell-anaemia-in-cameroon
#12
Amy Geard, Gift D Pule, Bernard Chetcha Chemegni, Valentina J Ngo Bitoungui, Andre P Kengne, Emile R Chimusa, Ambroise Wonkam
Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811)...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28460154/hepatitis-b-infection-acquired-after-haematopioetic-stem-cell-transplant-through-horizontal-mode
#13
Martin C W Chan, Frankie W T Cheng, Kin H Sze, Ann H Wong, Alex W K Leung, Paul K S Chan, Chi K Li
A 22 month old child with thalassaemia major received unrelated umbilical cord blood transplantation. She was born to mother of HBsAg carrier and received hepatitis B immunoglobulin at birth and hepatitis B vaccination. She was HBsAg negative and anti-HBs positive before transplantation. After transplant, she was taken care by her mother and found to be HBsAg positive at 2 year post-transplant. Genotyping of the mother's and child's HBV status confirmed to be of same genotype and demonstrated horizontal transmission in post-transplant setting...
April 29, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28450766/coinheritance-of-b-thalassemia-and-sickle-cell-anaemia-in-southwestern-nigeria
#14
Osunkalu Vincent, Bamisaye Oluwaseyi, Babatunde James, Lawal Saidat
BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a severe disorder similar to homozygous sickle cell disease. MATERIALS AND METHODS: Haemoglobin A2 and HbF were determined in sickle cell anaemia patients attending LAUTECH Teaching Hospital, Osogbo, by elution after electrophoresis and alkaline denaturation methods respectively...
November 2016: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28446301/-analysis-of-gene-mutation-types-of-thalassemia-in-longyan-area-of-fujian-province-in-china
#15
Qing-Fu Dai, Xiao-Lu Li, Yu-Xia Wang, Chun-Fang Cao
OBJECTIVE: To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects. METHODS: The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot hybridization (RDB)...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28439915/treatment-of-chronic-hepatitis-c-with-direct-acting-antivirals-in-patients-with-%C3%AE-thalassaemia-major-and-advanced-liver-disease
#16
Emmanouil Sinakos, Dimitrios Kountouras, John Koskinas, Kalliopi Zachou, Stylianos Karatapanis, Christos Triantos, Themistoklis Vassiliadis, Ioannis Goulis, Alexandra Kourakli, Efthymia Vlachaki, Barbara Toli, Maria Tampaki, Pinelopi Arvaniti, Georgios Tsiaoussis, Aristea Bellou, Antonis Kattamis, Konstantinos Maragkos, Foteini Petropoulou, George N Dalekos, Evangelos Akriviadis, George V Papatheodoridis
Interferon-based regimens for chronic hepatitis C (CHC) were often deferred in patients with β-thalasaemia major (β-TM) due to poor efficacy and tolerance. Current guidelines recommend direct-acting antivirals (DAAs) for these patients. The aim of this study was to assess the safety and efficacy of DAAs in patients with β-TM and advanced liver disease due to CHC. Patients were recruited from eight liver units in Greece. The stage of liver disease was assessed using transient elastography and/or liver histology...
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28439891/the-new-era-of-chelation-treatments-effectiveness-and-safety-of-10-different-regimens-for-controlling-iron-overloading-in-thalassaemia-major
#17
REVIEW
Rosario Di Maggio, Aurelio Maggio
This review outlines the effectiveness and safety of 10 different regimens for controlling iron overloading in thalassaemia major (TM). For each treatment, the strength of the evidence was documented according to the guidelines of the American College of Cardiology and the American Heart Association. Serum ferritin (SF), liver iron concentration (LIC), heart T2* signal, heart damage and survival were used to assess effectiveness. Five chelation regimens out of 10 showed Level A Evidence in controlling iron overloading, as determined by SF levels and LIC...
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#18
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#19
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28413201/detection-of-%C3%AE-thalassaemia-in-neonates-on-cord-blood-and-dried-blood-spot-samples-by-capillary-electrophoresis
#20
H Alauddin, M Langa, M Mohd Yusoff, R Z A Raja Sabudin, A Ithnin, N F Abdul Razak, N H Sardi, N H Hussin
INTRODUCTION: Haemoglobin Bart's (Hb Bart's) level is associated with α-thalassaemia traits in neonates, enabling early diagnosis of α-thalassaemia. The study aimed to detect and quantify the Hb Bart's using Cord Blood (CB) and CE Neonat Fast Hb (NF) progammes on fresh and dried blood spot (DBS) specimen respectively by capillary electrophoresis (CE). METHODS: Capillarys Hemoglobin (E) Kit (for CB) and Capillarys Neonat Hb Kit (for NF) were used to detect and quantify Hb Bart's by CE in fresh cord blood and dried blood spot (DBS) specimens respectively...
April 2017: Malaysian Journal of Pathology
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