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Thalassemia

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https://www.readbyqxmd.com/read/29054753/risk-of-fracture-in-transfusion-na%C3%A3-ve-thalassemia-population-a-nationwide-population-based-retrospective-cohort-study
#1
Yu-Guang Chen, Chieh-Sheng Lu, Te-Yu Lin, Cheng-Li Lin, Huey-En Tzeng, Chun-Hao Tsai
In thalassemia major or transfusion-dependent thalassemia patients, osteoporosis-related bone complications such as fracture events are common. However, no studies have investigated the risk of fracture in transfusion-naïve thalassemia population. Therefore, we conducted a longitudinal nationwide cohort study to determine whether this population has an increased risk of fracture. This nationwide, population-based cohort study analyzed data from 1998 to 2010 obtained from the Taiwanese National Health Insurance Research Database, with a follow-up period extending until the end of 2011...
October 17, 2017: Bone
https://www.readbyqxmd.com/read/29054350/what-can-we-learn-from-ineffective-erythropoiesis-in-thalassemia
#2
REVIEW
Paraskevi Rea Oikonomidou, Stefano Rivella
Erythropoiesis is a dynamic process regulated at multiple levels to balance proliferation, differentiation and survival of erythroid progenitors. Ineffective erythropoiesis is a key feature of various diseases, including β-thalassemia. The pathogenic mechanisms leading to ineffective erythropoiesis are complex and still not fully understood. Altered survival and decreased differentiation of erythroid progenitors are both critical processes contributing to reduced production of mature red blood cells. Recent studies have identified novel important players and provided major advances in the development of targeted therapeutic approaches...
October 3, 2017: Blood Reviews
https://www.readbyqxmd.com/read/29051877/a-case-of-non-traumatic-avascular-necrosis-of-femur-in-case-of-transfusion-dependent-thalassemia
#3
Geeta Mandhani, Manas Kalra, Ramani Narasimhan, V K Khanna, Amita Mahajan
INTRODUCTION: Avascular necrosis of the head of femur (AVNF) has frequently been reported with sickle cell anemia but is not commonly associated with beta thalassemia. CASE REPORT: We report a case of 14-year-old male with transfusion-dependent thalassemia (TDT) and hepatitis C, who developed bilateral atraumatic AVNF requiring surgical correction. The likely etiopathogenesis and the review of literature for this uncommon finding are discussed. CONCLUSION: AVNF should be considered as a possibility in a patient with TDT presenting with hip pain...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29051181/disorders-of-erythrocyte-hydration
#4
Patrick G Gallagher
The erythrocyte contains a network of pathways that regulate salt and water content in the face of extracellular and intracellular osmotic perturbations. This allows the erythrocyte to maintain a narrow range of cell hemoglobin concentration, a process critical for normal red blood cell function and survival. Primary disorders that perturb volume homeostasis jeopardize the erythrocyte and may lead to its premature destruction. These disorders are marked by clinical, laboratory, and physiologic heterogeneity...
October 19, 2017: Blood
https://www.readbyqxmd.com/read/29049312/impact-of-annotation-error-in-%C3%AE-globin-genes-on-molecular-diagnosis
#5
J Francis Borgio
BACKGROUND: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of β-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to support the therapeutic aims in β-thalassemia major, by identifying specific modulators for the reactivation of fetal hemoglobin production. Hence, accurate identification of the variants in α-globin genes is crucial for the proper diagnosis, treatment and genetic counseling...
2017: PloS One
https://www.readbyqxmd.com/read/29048948/the-spectrum-of-sickle-hemoglobin-related-nephropathy-from-sickle-cell-disease-to-sickle-trait
#6
Rakhi P Naik, Vimal K Derebail
Renal dysfunction is among the most common complication of sickle cell disease (SCD), from hyposthenuria in children to progression to overt chronic kidney disease (CKD) in young adults. Emerging evidence now suggests that sickle hemoglobin-related nephropathy extends to individuals with sickle cell trait (SCT). Areas covered: This review will highlight the pathophysiology, epidemiology, and management recommendations for sickle nephropathy in both SCD and SCT. In addition, it will focus on the major demographic and genetic modifiers of renal disease in sickling hemoglobinopathies...
October 19, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29046748/%C3%AE-thalassemia-minor-carbohydrate-malabsorption-and-histamine-intolerance
#7
Wolfgang J Schnedl, Michael Schenk, Sonja Lackner, Sandra J Holasek, Harald Mangge
Background: β-thalassemia minor is characterized by reduced β-haemoglobin chain synthesis and sometimes mild anaemia, although carriers of β-thalassemia minorare usually clinically asymptomatic.Nonspecific abdominal complaints may be caused by gastrointestinal carbohydrate malabsorption (lactose and fructose) and/or malabsorption of biogenic amines (histamine), or proteins (gluten). Objectives: We report on two patients with β-thalassemia minor suffering nonspecific abdominal symptoms due to a carbohydrate and histamine malabsorption...
October 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29044913/assessment-of-cytologic-differentiation-in-high-grade-pancreatic-neuroendocrine-neoplasms-a-multi-institutional-study
#8
Carlie S Sigel, Vitor Werneck Krauss Silva, Michelle D Reid, David Chhieng, Olca Basturk, Keith M Sigel, Tanisha D Daniel, David S Klimstra, Laura H Tang
BACKGROUND: Well-differentiated (WD) and poorly differentiated (PD) pancreatic neuroendocrine neoplasms are biologically distinct entities with different therapies and prognoses. WD neoplasms with elevated proliferation (Ki-67 > 20%) have been shown to have an overlapping histology with PD neuroendocrine carcinomas. This study compared expert cytomorphologic assessments of differentiation in pancreatic neuroendocrine neoplasms in a multi-institutional study. METHODS: Fine-needle aspiration specimens from pancreatic neuroendocrine neoplasms (grade 2 [G2] and grade 3 [G3] according to the 2017 World Health Organization classification; n = 72) were diagnosed independently by 3 cytopathologists as WD or PD (poorly differentiated large cell type [PD-L] or poorly differentiated small cell type [PD-S]) purely on the basis of cytomorphology...
October 17, 2017: Cancer
https://www.readbyqxmd.com/read/29043830/red-blood-cell-phenotype-prevalence-in-blood-donors-who-self-identify-as-hispanic
#9
Chelsea A Sheppard, Nicole L Bolen, Beth Eades, Gorka Ochoa-Garay, Mark H Yazer
Molecular genotyping platforms provide a quick, high-throughput method for identifying red blood cell units for patients on extended phenotype-matching protocols, such as those with sickle cell disease or thalassemia. Most of the antigen prevalence data reported are for non-Hispanic populations. Therefore, this study sought to determine the phenotype prevalence in a single blood center's Hispanic population and to compare those results with previously reported rates in non-Hispanic donor populations. We performed a retrospective review of all serologic and molecular typing from donors who self-reported as Hispanic...
September 2017: Immunohematology
https://www.readbyqxmd.com/read/29038395/acute-interstitial-nephritis-induced-by-citrullus-colocynthis
#10
Shokoufeh Savaj, Mohammad Ghaffari, Mohammad Amin Abbasi, Javad Azar
Acute interstitial nephritis (AIN) is known as a common cause of acute kidney injury, found in 15% to 27% of kidney biopsies. Drug-induced AIN is currently the most common cause of AIN. The most common medications causing AIN are antibiotics and nonsteroidal anti-inflammatory drugs. We describe a case of Citrullus colocynthis (herbal remedy for diabetes mellitus and weight reduction) that induced AIN. A 31-year-old woman with major thalassemia, diabetes mellitus, and hepatitis C infection was admitted because of flank pain and unexpected increase in serum creatinine level...
October 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29037546/acceptance-towards-giving-birth-to-a-child-with-beta-thalassemia-major-a-prospective-study
#11
Yiu Man Chan, Oi Ka Chan, Yvonne Kwun Yue Cheng, Tak Yeung Leung, Terence Tzu Hsi Lao, Daljit Singh Sahota
OBJECTIVE: To explore the acceptance of pregnant Chinese women on giving birth to a child with beta-thalassemia major. MATERIALS AND METHODS: Women's acceptance on having a child with beta thalassemia major was assessed using standard gamble metrics during an interviewer-administered survey on 309 women recruited in the antenatal clinic. Utility scores were determined and the association with sociodemographic factors was assessed. RESULTS: The median utility score for having a child with beta-thalassemia major was 0...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29035392/long-term-outcome-of-mixed-chimerism-after-stem-cell-transplantation-for-thalassemia-major-conditioned-with-busulfan-and-cyclophosphamide
#12
N A Fouzia, E S Edison, K M Lakshmi, A Korula, S R Velayudhan, P Balasubramanian, A Abraham, A Viswabandya, B George, V Mathews, A Srivastava
Mixed chimerism (MC) occurs frequently after allogeneic hematopoietic stem cell transplantation (HSCT) for thalassemia major (TM) and may be associated with rejection. We report the outcome of MC in 132 TM patients conditioned with Busulphan/Cyclophosphamide, who had successful engraftment and had ⩾1 year follow-up. Chimerism was first assessed at day +28, then every 3-9 months or more frequently if there was MC. If rejection was suspected, immunosuppression was stopped and donor-lymphocyte infusion (DLI) was given if there was no response...
October 16, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29035157/evaluation-of-serum-levels-of-c3-and-c4-complement-factors-in-patients-with-beta-thalassemia-major-in-khuzestan-province-southwest-iran
#13
Mehri Ghafourian, Mehrnosh Esmaeili, Alireza Sadeghi, Ali Malekei Naseri, Nader Dashti-Gerdabi
BACKGROUND AND OBJECTIVES: Thalassemia syndrome is the most common genetic disorder in the world and infection is the second cause of death in these patients. Measurement of serum C3 and C4 complement factors in serum was done in 60 patients with beta-thalassemia major in comparison with 30 healthy subjects as control group. MATERIALS AND METHODS: The serum level of C3 and C4 complement factors in 60 patients with beta-thalassemia major who were randomly selected from among the patients referred to Shafa Hospital of Ahvaz was evaluated and compared with 30 samples from healthy individuals with no history of recent infectious or autoimmune diseases...
October 16, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/29033512/heart-rate-recovery-as-a-novel-test-for-predicting-cardiac-involvement-in-beta-thalassemia-major
#14
Selcuk Kucukseymen, Isa Oner Yuksel, Goksel Cagirci, Erkan Koklu, Volkan Karakus, Serkan Cay, Gorkem Kus, Erdal Kurtoglu, Sakir Arslan
BACKGROUND: Abnormal heart rate recovery (HRR) is predictive of cardiac mortality. Autonomic abnormalities in beta-thalassemia major (TM) patients have been reported in previous studies. However, the importance of low HRR in exercise stress test in TM patients has not yet been ascertained. Therefore, this study will be the first of its kind in the literature. METHODS: Exercise stress test was performed on 56 TM patients who were being treated at the Thalassemia Center of our hospital, along with 46 non-TM iron deficiency anemia (IDA) patients as a control group...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29032940/molecular-basis-of-%C3%AE-thalassemia
#15
REVIEW
Samaneh Farashi, Cornelis L Harteveld
α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in the world population. The clinical severity varies from almost asymptomatic, to mild microcytic hypochromic, and to a lethal hemolytic condition, called Hb Bart's Hydrops Foetalis Syndrome. The molecular basis are usually deletions and less frequently, point mutations affecting the expression of one or more of the duplicated α-genes. The clinical variation and increase in disease severity is directly related to the decreased expression of one, two, three or four copies of the α-globin genes...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29032269/second-hematopoietic-sct-for-thalassemia-major-improved-clinical-outcomes-with-a-treosulfan-based-conditioning-regimen
#16
Anu Korula, Nisham P N, Anup Devasia, Kavitha M Lakshmi, Aby Abraham, Eunice Sindhuvi, Biju George, Alok Srivastava, Vikram Mathews
Graft rejection (GR) following an allo-SCT occurs in 10-20% of patients with β thalassemia major (TM). There is limited data on the clinical profile and long term outcome of patients who have had a graft rejection. We undertook a retrospective analysis of patients who had a graft failure post allogeneic SCT for TM at our center. From October, 1991 to June 2016, 55/506 (11%) patients transplanted for TM had a graft failure. An additional 7 patients with graft failure following an allo-SCT done at other centers were referred to us for a second transplant...
October 12, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29026401/the-sensitivity-of-na-k-atpase-as-an-indicator-of-blood-diseases
#17
Abulnaja Kkalid Omar, Kherd Ali Ahmed, Nawal Mohammed Helmi, Kumosani Taha Abdullah, Mohamad H Qarii, Huwait Etimad Hasan, Albukhari Ashwag, Alaama Mohammed Nabil, Al-Ghamdi Maryam Abdu, Moselhy Said Salama
BACKGROUND: Blood-related hereditary diseases are widespread in Eastern and SouthWestern regions of Saudi Arabia until recently. In this study, we used Na(+), K(+)ATPase as an enzymatic indicator for the diagnosis of the diseases. MATERIALS AND METHODS: Individuals with different blood diseases (iron deficiency (n=13), anemia (n=14), thalassemia (n=16) and sickle cell anemia (n=12) were studied for Na(+), K(+)-ATPase activity in the plasma membrane of red blood cell and compared with those of the healthy ones (n=20) of the same age and gender living in Jeddah, Saudi Arabia...
March 2017: African Health Sciences
https://www.readbyqxmd.com/read/29026336/factors-associated-with-continuing-emergence-of-%C3%AE-thalassemia-major-despite-prenatal-testing-a-cross-sectional-survey
#18
Haleama Al Sabbah, Sarah Khan, Abdallah Hamadna, Lamia Abu Ghazaleh, Anwar Dudin, Bashar Adnan Karmi
PURPOSE: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. METHODS: Convenience sampling was used to select 32 women (72 fetuses) who were at risk of having a baby with β-thalassemia...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/29026176/primary-astrocytic-tumours-and-paired-recurrences-have-similar-biological-features-in-idh1-tp53-and-tertp-mutation-and-mgmt-atrx-loss
#19
Xia Li, Jie Wei, Yixiong Liu, Peifeng Li, Linni Fan, Yingmei Wang, Mingyang Li, Danhui Zhao, Zhou Yu, Jing Ye, Ying Guo, Qingguo Yan, Shuangping Guo, Zhe Wang
Astrocytic tumours are the most common type of primary malignant brain tumour. Most astrocytic tumours will recur at some point after surgery. Currently, the combination of radiotherapy and chemotherapy does not prevent the recurrence of astrocytic tumours. In this study, we investigated the consistency in isocitrate dehydrogenase 1 (IDH1), tumour protein p53 (TP53) and telomerase reverse transcriptase promoter (TERTp) mutations during astrocytic tumour recurrence. We also evaluated the protein loss of O-6-methylguanine-DNA methyltransferase (MGMT) and alpha-thalassemia/mental retardation, X-linked (ATRX) during disease recurrence...
October 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29023066/%C3%AE-globin-alteration-in-%C3%AE-thalassemia-disorder-prediction-and-interaction-defect
#20
Niken Satuti Nur Handayani, Nailil Husna, Immanuel Sanka
BACKGROUND AND OBJECTIVE: The α-thalassemia is an inherited blood disorder affecting quality and quantity of hemoglobin. It caused mostly by deletion of one or two α-globin genes and characterized by deficient production of α-globin chain in hemoglobin leading from mild anemia to lethal. The α-globin gene with partial deletion could reduce chain production or produce abnormal chain. Its effect depends on mechanism of chain production affected. This study aimed to analyze the effect of partial deletion in α-globin gene influencing the mechanisms to produce functional α-globin chain in α-thalassemia cases...
2017: Pakistan Journal of Biological Sciences: PJBS
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