Affiliation: Harvard University
- Complications of beta-thalassemia major in North AmericaMelody J Cunningham
Children s Hospital, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA 02115, USA
Blood 104:34-9. 2004..We conclude that hepatitis C, iron-related organ dysfunction, and complications of iron chelation therapy are strongly age-dependent in North American patients with beta-thalassemia...
- Beliefs about chelation among thalassemia patientsFelicia L Trachtenberg
New England Research Institutes, 9 Galen Street, Watertown, MA, 02472, USA
Health Qual Life Outcomes 10:148. 2012..Understanding patients' views about medication is crucial to maximize adherence. Thalassemia is a congenital blood disorder requiring chronic blood transfusions and daily iron chelation therapy...
- Dosing, efficacy, and safety of recombinant factor VIIa (rFVIIa) in pediatric versus adult patients: the experience of the Hemostasis and Thrombosis Research Society (HTRS) Registry (2004-2008)Ellis J Neufeld
Boston Children s Hospital, Boston, Massachusetts 02115, USA
Pediatr Blood Cancer 60:1178-83. 2013..The longitudinal registry of the Hemostasis and Thrombosis Research Society (HTRS) provided data on treatment of bleeding episodes for pediatric and adult patients with congenital hemophilia complicated by inhibitors to factor VIII or IX...
- Effect of acute bleeding on daily quality of life assessments in patients with congenital hemophilia with inhibitors and their families: observations from the dosing observational study in hemophiliaEllis J Neufeld
Children s Hospital Boston, Boston, MA 02115, USA
Value Health 15:916-25. 2012..Periodic QOL assessments typically made on nonbleed days may not provide complete reflections of the burden on patients/families...
- Exposure and safety of higher doses of recombinant factor VIIa ≥250 μg kg(-1) in individuals with congenital haemophilia complicated by alloantibody inhibitors: the Haemophilia and Thrombosis Research Society Registry experience (2004-2008)E J Neufeld
Children s Hospital Boston, Boston, MA, USA
Haemophilia 17:650-6. 2011..No serious adverse drug-related events or thrombotic complications were reported. This data analysis from the HTRS Registry provides evidence of the safe and effective use of higher doses of rFVIIa (≥250 μg kg(-1) ) in US practice...
- Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questionsEllis J Neufeld
Division of Hematology, Children s Hospital, Karp 08210, 300 Longwood Ave, Boston, MA 02115, USA
Blood 107:3436-41. 2006..These developments herald a new era for iron chelation, but many unanswered questions remain...
- Quality of life in thalassemia: a comparison of SF-36 results from the thalassemia longitudinal cohort to reported literature and the US normsA Sobota
Children s Hospital Boston, Massachusetts, USA
Am J Hematol 86:92-5. 2011..The SF-36 should become a standard instrument for assessing HRQOL in thalassemia to determine predictors of low HRQOL which may be better addressed by a multidisciplinary team...
- Oral chelation: should it be used with young children?Lauren M Mednick
Department of Psychiatry, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Pediatr Blood Cancer 55:603-5. 2010..We review developmental challenges associated with oral chelation in this age group and provide suggestions to improve adherence in this population...
- Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotypeM C Liberman
Eaton Peabody Laboratory, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
J Assoc Res Otolaryngol 7:211-7. 2006..Such a pattern is consistent with the observed discrepancy between ABR and OAE threshold shifts. The possible role of thiamine transport in other reported cases of selective inner hair cell loss is considered...
- Passive cigarette smoking and reduced HDL cholesterol levels in children with high-risk lipid profilesE J Neufeld
Children s Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass 02115, USA
Circulation 96:1403-7. 1997..Previous studies have demonstrated an association of decreased HDL cholesterol with passive smoking in children but have not adjusted for potential confounding factors...
- Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transportE J Neufeld
Division of Hematology, Children s Hospital, Boston, Massachusetts 02115, USA
Blood Cells Mol Dis 27:135-8. 2001..Here we review the current status of studies aimed at understanding the pathophysiology of this unique transport defect...
- Characterization of a murine high-affinity thiamine transporter, Slc19a2J C Fleming
Division of Hematology, Children s Hospital, Boston, Massachusetts 02115, USA
Mol Genet Metab 74:273-80. 2001..Immunohistochemistry studies indicate that Slc19a2 is expressed on the cell surface and intracellularly, and is specifically localized to a subpopulation of cells in cochlea, small intestine, and pancreas...
- Risk factors for thromboembolism in teens: when should I test?Amy E Sass
Division of Adolescent and Young Adult Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
Curr Opin Pediatr 14:370-8. 2002..Instead, clinicians can use thoughtful screening questions to identify potentially high-risk patients for thrombophilia and consider testing for inherited risk factors on a case-specific basis...
- The incidence and implications of anti-heparin-platelet factor 4 antibody formation in a pediatric cardiac surgical populationMary P Mullen
Children s Hospital Boston, Boston, MA 02115, USA
Anesth Analg 107:371-8. 2008....
- Safety and efficacy of pegylated interferon alpha-2a and ribavirin for the treatment of hepatitis C in patients with thalassemiaPaul Harmatz
Children s Hospital and Research Center Oakland, 747 52 Street, Oakland, CA 94609, USA
Haematologica 93:1247-51. 2008..The molar efficacy of deferoxamine improved with reduction in liver inflammation on biopsy (p=0.001). In conclusion, antiviral treatment is safe if transfusion requirement, iron toxicities and neutropenia are monitored...
- Inflammation and oxidant-stress in beta-thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trialPatrick B Walter
Children s Hospital and Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA
Haematologica 93:817-25. 2008..We assessed whether oxidant-stress and inflammation in beta-thalassemia could be controlled by the novel oral iron chelator deferasirox as effectively as by deferoxamine...
- Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective studyJohn Porter
University College London, London, UK
Eur J Haematol 80:168-76. 2008..Dosage was determined by baseline liver iron concentration (LIC)...
- Evaluation of the coagulation system in children with two-ventricle congenital heart diseaseKirsten C Odegard
Department of Anesthesiology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Ann Thorac Surg 83:1797-803. 2007..This study used age-matched controls to evaluate coagulation factors in children with two-ventricle congenital heart disease (CHD)...
- Successful use of bivalirudin for cardiac transplantation in a child with heparin-induced thrombocytopeniaChristopher S D Almond
Department of Cardiology, Children s Hospital, Boston, Massachusetts 02215, USA
J Heart Lung Transplant 25:1376-9. 2006..We present the case of a child with heparin-induced thrombocytopenia with thrombosis (HIT Type II) who underwent successful orthotopic cardiac transplantation using bivalirudin as the primary anti-coagulant for cardiopulmonary bypass...
- Practical implications of liver and heart iron load assessment by T2*-MRI in children and adults with transfusion-dependent anemiasSarah Deborah Chirnomas
Division of Hematology Oncology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Hematol 83:781-3. 2008..These findings were present in both adult and pediatric patients. We recommend therapeutic monitoring of iron burden by evaluation of both liver and myocardial iron with T2*-MRI...
- Coagulation abnormalities in patients with single-ventricle physiology precede the Fontan procedureKirsten C Odegard
Department of Anesthesia, Division of Hematology, Children s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA
J Thorac Cardiovasc Surg 123:459-65. 2002..A hypercoagulable state with deficiencies in proteins C and S has been implicated. Using age-matched control subjects, we evaluated whether an altered coagulation state is present earlier in the course of staged single-ventricle repair...
- Urinary hepcidin in congenital chronic anemiasSusan L Kearney
Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts, USA
Pediatr Blood Cancer 48:57-63. 2007..Hepcidin, a regulator for iron homeostasis, is induced by inflammation and iron burden and suppressed by anemia and hypoxia. This study was conducted to determine the hepcidin levels in patients with congenital chronic anemias...
- Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trialEric Nisbet-Brown
Department of Paediatrics, Harvard Medical School, Boston, MA, USA
Lancet 361:1597-602. 2003..We aimed to investigate short-term efficacy, pharmacokinetic/pharma- codynamic (PK/PD) relations, and safety of ICL670, a novel, tridentate, orally active iron chelator...
- Prospective reevaluation of the association between thrombotic diathesis and legg-perthes diseaseM Timothy Hresko
Department of Orthopaedic Surgery, Harvard Medical School, Boston, Massachusetts 02115, USA
J Bone Joint Surg Am 84:1613-8. 2002..We analyzed the value of screening for inherited thrombophilia in patients with Legg-Perthes disease by examining the association between Legg-Perthes disease and abnormalities in the thrombotic pathway...
- Lymphoid apoptosis and myeloid hyperplasia in CCAAT displacement protein mutant miceA M Sinclair
Department of Pathology and Laboratory of Molecular Pathology, University of Texas Southwestern Medical Center, Dallas, 75390 9072, USA
Blood 98:3658-67. 2001..These data suggest that cux/CDP regulates normal hematopoiesis, in part, by modulating the levels of survival and/or apoptosis factors expressed by the microenvironment...
- The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporterJ C Fleming
Division of Hematology, Children s Hospital, Dana Farber Cancer Institute, and Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 22:305-8. 1999..3 critical region. Here we present evidence that the gene SLC19A2 (for solute carrier family 19 (thiamine transporter), member 2) encodes the first known mammalian thiamine transporter, which we designate thiamine transporter-1 (THTR-1)...
- Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mappingE J Neufeld
Division of Hematology, Children s Hospital, Dana Farber Cancer Institute, Boston, USA
Am J Hum Genet 61:1335-41. 1997..Characterization of the metabolic defect of TRMA may shed light on the role of thiamine deficiency in such common diseases...
- A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndromeS Gritli
Division of Hematology and Oncology, Children's Hospital and Dana Farber Cancer Institute, Boston 02115, USA
Br J Haematol 113:508-13. 2001..We demonstrated that fibroblasts from this patient exhibited defective thiamine transport. These data confirm that the SLC19A2 gene is the high-affinity thiamine carrier and that this novel mutation is responsible for TRMA syndrome...
- X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutationVenée N Tubman
Division of Hematology Oncology, Children s Hospital Boston, 320 Longwood Avenue, Boston, MA, USA
Blood 109:3297-9. 2007..Our findings suggest that XLTT is within a spectrum of disorders constituting the gray platelet syndrome, and we propose that GATA1 is an upstream regulator of the genes required for platelet alpha-granule biogenesis...
- Myocardial immediate early gene activation after cardiopulmonary bypass with cardiac ischemia-reperfusionDavid P Nelson
Department of Cardiology, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Ann Thorac Surg 73:156-62. 2002..The inflammatory process after cardiopulmonary bypass is accompanied by alterations in gene expression for various inflammatory mediators...
- Extracorporeal membrane oxygenation as a bridge to cardiac transplantation in a patient with cardiomyopathy and hemophilia ARavi R Thiagarajan
Department of Cardiology, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
Intensive Care Med 29:985-8. 2003..To report the use of extracorporeal membrane oxygenation (ECMO) as a bridge to cardiac transplantation in a patient with hemophilia A and dilated cardiomyopathy...
- Time course of early induction of intracellular adhesion molecule-1 messenger RNA during reperfusion, following cardiopulmonary bypass with hypothermic circulatory arrest in lambsSarah Tabbutt
Department of Cardiology, Children s Hospital, Dana Farber Cancer Institute, and Harvard Medical School, Boston, MA 02115, USA
Pediatr Crit Care Med 4:83-8. 2003..We investigated the time course of intracellular adhesion molecule-1 messenger RNA induction following cardiopulmonary bypass with hypothermic circulatory arrest...
- Chronic disseminated intravascular coagulation and childhood-onset skin necrosis resulting from homozygosity for a protein C Gla domain mutation, Arg15TrpMara Steinkamp
Division of Hematology, Children s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA
J Pediatr Hematol Oncol 24:685-8. 2002..Chronic consumption coagulopathy without purpura fulminans or venous thrombosis is a rare presentation of defective protein C pathway. The result of this mutation is a mixed type I (low antigen) and type II (low function) phenotype...
- Screening and counseling for thalassemiaDavid H K Chui
Blood 107:1735-7. 2006