keyword
MENU ▼
Read by QxMD icon Read
search

Thalassemia

keyword
https://www.readbyqxmd.com/read/28103644/flow-cytometric-osmotic-fragility-test-increased-assay-sensitivity-for-clinical-application-in-pediatric-hematology
#1
Olga Ciepiela, Anna Adamowicz-Salach, Agata Zgodzińska, Magdalena Łazowska, Iwona Kotuła
BACKGROUND: Osmotic Fragility Test (OFT) is widely considered as a sensitive indicator of red blood cells' sensitivity to the hypotonic solution. It is often used as a screening test for the diagnosis of hereditary spherocytosis (HS). Nowadays, the osmotic fragility test based on flow cytometric analysis (FCM OF) is widely used in laboratory practice. The purpose of this study was to optimize the assay sensitivity and to validate its clinical application in the diagnostic screening of childhood anemias...
January 19, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28101307/review-and-recommendations-on-management-of-adult-female-thalassemia-patients-with-hypogonadism-based-on-literature-review-and-experience-of-icet-a-network-specialists
#2
REVIEW
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Alice Albu, Soad Al Jaouni, Salvatore Anastasi, Maria Grazia Bisconte, Duran Canatan, Soteroula Christou, Shahina Daar, Salvatore Di Maio, Mohamed El Kholy, Doaa Khater, Mohamed Elshinawy, Yurdanur Kilinc, Roberto Mattei, Hala H Mosli, Alessandra Quota, Maria Grazia Roberti, Praveen Sobti, Saif Al Yaarubi, Saveria Canpisi, Christos Kattamis
BACKGROUND: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28101170/extramedullary-hematopoiesis-a-report-of-two-cases
#3
Huan-Zhu Zhang, Ying Li, Xin Liu, Bao-Rong Chen, Guo-Hua Yao, Yu-Na Peng
Extramedullary hematopoiesis (EMH) is defined as hematopoiesis occurring in organs outside of the bone marrow. The present report describes two cases of thalassemic patients with paraspinal medullary hematopoiesis and analyzes the clinical manifestations, imaging, pathology, diagnosis and treatment of EMH. In addition, a supplementary review of previously published cases is provided along with a review of the related literature. Computed tomography (CT) of the first case revealed multiple paraspinal masses, and the largest was 6...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100178/a-retinopathy-in-young-patient-with-co-inheritance-of-heterozygous-alpha%C3%A2-%C3%A2-thalassemia-and-sickle-trait-a-case-report
#4
Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa
BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28099398/utilizing-a-novel-mobile-health-selfie-application-to-improve-compliance-to-iron-chelation-in-pediatric-patients-receiving-chronic-transfusions
#5
Sarah Leonard, Lindsay M Anderson, Jude Jonassaint, Charles Jonassaint, Nirmish Shah
Iron chelation therapy can prevent iron overload for pediatric patients with sickle cell disease and β-thalassemia major; however, adherence is suboptimal. Therefore, we developed an intensive training program (ITP), to improve medication management and disease knowledge. The objectives were to determine feasibility of the ITP and its preliminary impact on adherence, disease knowledge, and health outcomes. Pediatric patients were recruited to participate in the ITP over a 90-day period and were followed for 6 months...
January 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28096133/regulation-of-the-iron-homeostatic-hormone-hepcidin
#6
REVIEW
Veena Sangkhae, Elizabeta Nemeth
Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28078791/effects-of-stem-cell-transplantation-on-bone-mineral-density-and-vitamin-d-status-in-children-with-thalassemia-major
#7
Dilek Gürlek Gökçebay, Namik Ozbek, Arzu Yazal Erdem, Vildan Culha, Nese Yarali, Pamir Isik, Zekai Avci, Fatih Azik, Fatma Demirel, Bahattin Tunc
HSCT is a curative treatment in TM, but conditioning and immunosuppressive treatment may affect bone metabolism. In this retrospective study, we aimed to compare BMD, vitamin D status, and growth in children with TM who underwent HSCT to those in children with TD TM. Twenty-three children with TM who underwent HSCT (mean age 7.1 years [1.03-14.7]) and 24 children with TD thalassemia (mean age 9.8 years [1.6-14]) were recruited. Lumbar spine BMD of TD thalassemia patients was higher than those in patients who had HSCT at both baseline and second-year assessments (P=...
January 12, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28070238/hematological-disorders-and-pulmonary-hypertension
#8
REVIEW
Rajamma Mathew, Jing Huang, Joseph M Wu, John T Fallon, Michael H Gewitz
Pulmonary hypertension (PH), a serious disorder with a high morbidity and mortality rate, is known to occur in a number of unrelated systemic diseases. Several hematological disorders such as sickle cell disease, thalassemia and myeloproliferative diseases develop PH which worsens the prognosis. Associated oxidant injury and vascular inflammation cause endothelial damage and dysfunction. Pulmonary vascular endothelial damage/dysfunction is an early event in PH resulting in the loss of vascular reactivity, activation of proliferative and antiapoptotic pathways leading to vascular remodeling, elevated pulmonary artery pressure, right ventricular hypertrophy and premature death...
December 26, 2016: World Journal of Cardiology
https://www.readbyqxmd.com/read/28068960/nutritional-status-among-primary-school-children-in-rural-sri-lanka-a-public-health-challenge-for-a-country-with-high-child-health-standards
#9
N P G C R Naotunna, M Dayarathna, H Maheshi, G S Amarasinghe, V S Kithmini, M Rathnayaka, L Premachandra, N Premarathna, P C Rajasinghe, G Wijewardana, T C Agampodi, S B Agampodi
BACKGROUND: Nutritional status of pre adolescent children is not widely studied in Sri Lanka. The purpose of this study was to determine the nutritional status among pre-adolescent school children in a rural province of Sri Lanka. METHODS: A school based cross sectional study was carried out in North Central Province in 100 rural schools, selected using multi stage cluster sampling with probability proportionate to size. Children in grade one to five were enrolled with a maximum cluster size of fifty...
January 10, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28068635/inositol-hexa-phosphoric-acid-phytic-acid-a-nutraceuticals-attenuates-iron-induced-oxidative-stress-and-alleviates-liver-injury-in-iron-overloaded-mice
#10
Anwesha Bhowmik, Durbadal Ojha, Debayan Goswami, Rashmi Das, Nidhi S Chandra, Tapan K Chatterjee, Amit Chakravarty, Sudipa Chakravarty, Debprasad Chattopadhyay
Inositol hexa phosphoric acid (IP6) or Phytic acid, a natural antioxidant of some leguminous plants, known to act as a protective agent for seed storage in plants by suppressing iron catalyzed oxidative process. Following the same mechanism, we have tested the effect of IP6 on iron overloaded in vitro oxidative stress, and studied it's in vivo hepatoprotective ability in iron-dextran (injection)-induced iron overloaded liver injury in mice (intraperitoneal). Our results showed that IP6 had in vitro iron chelation (IC50 38...
January 6, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28067165/gene-therapy-in-fanconi-anemia-a-matter-of-time-safety-and-gene-transfer-tool-efficiency
#11
Verhoeyen Els, Francisco José Román Rodríguez, François-Loïc Cosset, Camille Lévy, Paula Rio
Fanconi anemia (FA) is a rare genetic syndrome characterized by progressive marrow failure. Gene therapy by infusion of FA-corrected autologous hematopoietic stem cells (HSCs) may offer a potential cure since it is a monogenetic disease with mutations in the FANC genes, coding for DNA repair enzymes (See review[1]). However, the collection of hCD34 +-cells in FA patients implies particular challenges because of the reduced numbers of progenitor cells present in their bone marrow (BM)[2] or mobilized peripheral blood[3-5]...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28065838/current-results-and-future-research-priorities-in-late-effects-after-hematopoietic-stem-cell-transplantation-hct-for-children-with-sickle-cell-disease-and-thalassemia-a-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#12
Shalini Shenoy, Emanuele Angelucci, Staci D Arnold, K Scott Baker, Monica Bhatia, Dorine Bresters, Andrew C Dietz, Josu De La Fuente, Christine Duncan, Javid Gaziev, Allison A King, Michael A Pulsipher, Angela Smith, Mark C Walters
Sustained donor engraftment after allogeneic hematopoietic cell transplantation (HCT) converts to healthy donor hemoglobin synthesis and halts disease symptoms in patients with sickle cell disease (SCD) and thalassemia major. A disease free survival probability that exceeds 90% has been reported when HCT using an HLA-matched sibling donor is performed in young patients with low risk disease or treatment related risk factors. Alternate donor HCT and HCT in adults is performed infrequently due to a higher risk profile...
January 5, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28062559/atrx-and-daxx-mechanisms-and-mutations
#13
Michael A Dyer, Zulekha A Qadeer, David Valle-Garcia, Emily Bernstein
Recent genome sequencing efforts in a variety of cancers have revealed mutations and/or structural alterations in ATRX and DAXX, which together encode a complex that deposits histone variant H3.3 into repetitive heterochromatin. These regions include retrotransposons, pericentric heterochromatin, and telomeres, the latter of which show deregulation in ATRX/DAXX-mutant tumors. Interestingly, ATRX and DAXX mutations are often found in pediatric tumors, suggesting a particular developmental context in which these mutations drive disease...
January 6, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28061537/excellent-and-durable-response-to-radiotherapy-in-a-rare-case-of-spinal-cord-compression-due-to-extra-medullary-hematopoiesis-in-%C3%AE-thalassemia-intermedia-case-report-and-clinicoradiological-correlation
#14
Prahlad H Yathiraj, Anshul Singh, Sudha Vidyasagar, Muralidhar Varma, Vidyasagar Mamidipudi
Spinal cord compression (SCC) is an unusual sequale of extra-medullary hematopoiesis (EMH). We report a patient diagnosed with β-thalassemia intermedia at the age of 7 years presenting as a 24-year-old with symptoms suggestive of paraparesis. MR imaging revealed long masses of EMH opposite T5-T11 and L5-S2 vertebrae with cord compression at T6 vertebrae. Patient was treated with external beam radiotherapy (EBRT) to a low dose of 20 Gy in 10 fractions over 2 weeks. The patient had symptomatic relief of paraparesis by the 5th fraction and nearly regained full power in bilateral lower limbs by EBRT conclusion...
December 9, 2016: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/28060132/variation-in-transfusion-requirements-among-children-with-thalassemia-on-regular-transfusion-programs-which-formula-closely-predicts-the-actual-requirements
#15
Nikki Cornell, Michael Eisenhut, Stalin Ramprakash
BACKGROUND: Various different formulae are used to calculate blood transfusion volumes in thalassemia. Using the right formula will avoid iron overload and complications of undertransfusion. OBSERVATIONS: Five years of transfusion data in 11 children with thalassemia showed that no single formula-calculated transfusion volumes accurately. The formula used in the United Kingdom with a hematocrit of the transfused blood of 0.6: (0.4×body weight×desired raise in hemoglobin [g/L]) yielded a volume closest to empirically determined requirements on average...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28060122/coinheritance-of-hereditary-elliptocytosis-and-deletional-hemoglobin-h-disease
#16
Pimlak Charoenkwan, Rungrote Natesirinilkul, Worawut Choeyprasert, Natchanon Kulsumritpon, Orapan Sangiamporn
Hereditary elliptocytosis is an inherited red blood cell membrane disorder characterized by typical peripheral blood smear findings of elliptocytes or rod-like red blood cells. Hemoglobin H disease is a form of α-thalassemia disease resulting in mild to moderate hemolytic anemia. The authors report 1 case of a girl who was diagnosed with oculo-auriculo-vertebral spectrum and a coinheritance of hereditary elliptocytosis and deletional hemoglobin H disease. She had moderate, non-transfusion-dependent anemia...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28060121/the-sickle-%C3%AE-thalassemia-phenotype
#17
Adekunle D Adekile, Nagihan Akbulut, Asmaa F Azab, Sundus Al-Sharida, Diana Thomas
Sβ-thalassemia (Sβ-thal) is common among Gulf Arab patients with sickle cell disease, but the phenotype of this group had not been well-documented. We have studied a group of Kuwaiti patients and compared the phenotype in the homozygotes (SS) and Sβ-thal patients. Complete blood count, hemoglobin quantitation, serum bilirubin, and lactate dehydrogenase were determined with standard techniques. The patients were screened for α-globin genotype. The Sβ-thal patients were also screened for the HBG2 Xmn-1 polymorphism...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28057638/an-international-registry-of-survivors-with-hb-bart-s-hydrops-fetalis-syndrome
#18
Duantida Songdej, Christian Babbs, Douglas R Higgs
Hb Bart's Hydrops Fetalis Syndrome (BHFS) resulting from α(0)-thalassemia is considered a universally fatal disorder. However, over the last three decades improvements in intrauterine interventions and perinatal intensive care have resulted in increasing numbers of BHFS survivors. We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished. In this perspective we analyze the available clinical information to document the natural history of BHFS...
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28054212/assessing-posterior-ocular-structures-in-%C3%AE-thalassemia-minor
#19
Hasan Basri Arifoglu, Bekir Kucuk, Necati Duru, Orhan Altunel, Ahmet Gulhan, Mustafa Ozen, Bilal Aygun, Mustafa Atas
PURPOSE: The aim of this study was to investigate the effect of β-thalassemia minor on choroidal, macular, and peripapillary retinal nerve fiber layer thickness. METHODS: To form the sample, we recruited 40 patients with β-thalassemia minor and 44 healthy participants. We used spectral-domain optical coherence tomography to take all measurements of ocular thickness, as well as measured intraocular pressure, axial length, and central corneal thickness. We later analyzed correlations of hemoglobin levels with ocular parameters...
January 4, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28028293/potential-use-of-cord-blood-for-hb-e-hemoglobinopathy-screening-programme-using-capillary-electrophoresis
#20
W A Wan Mohd Saman, R Hassan, S Mohd Yusoff, C A Che Yaakob, N A F Abdullah, S Ghazali, M A R Mohd Radzi, R Bahar
BACKGROUND: Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ β-thalassemia. In Malaysia, the national screening program for thalassemia was implemented for early pregnancy or secondary school girls; however many participants do not turn-up and missed the screening test...
December 2016: Malaysian Journal of Pathology
keyword
keyword
5013
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"