Ellis Neufeld

..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...

..Periodic QOL assessments typically made on nonbleed days may not provide complete reflections of the burden on patients/families...

..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...

..These developments herald a new era for iron chelation, but many unanswered questions remain...

..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...

..We review developmental challenges associated with oral chelation in this age group and provide suggestions to improve adherence in this population...

..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...

..Previous studies have demonstrated an association of decreased HDL cholesterol with passive smoking in children but have not adjusted for potential confounding factors...

..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...

..Here we review the current status of studies aimed at understanding the pathophysiology of this unique transport defect...

..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...

..This study used age-matched controls to evaluate coagulation factors in children with two-ventricle congenital heart disease (CHD)...

..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...

..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...

..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...

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..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...

..INTERPRETATION: ICL670 given once daily at 20 mg/kg seems to be an effective orally active iron chelator and is reasonably well tolerated. Long-term studies are now necessary to establish the practical contribution of this drug...

..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...

..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...

..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...

..Dosage was determined by baseline liver iron concentration (LIC)...

..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)...

..Characterization of the metabolic defect of TRMA may shed light on the role of thiamine deficiency in such common diseases...

..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...

..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...

..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...

..To report the use of extracorporeal membrane oxygenation (ECMO) as a bridge to cardiac transplantation in a patient with hemophilia A and dilated cardiomyopathy...

..Early intracellular adhesion molecule-1 messenger RNA induction may reflect its role in neutrophil-mediated, ischemia-reperfusion injury...

..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...

..The inflammatory process after cardiopulmonary bypass is accompanied by alterations in gene expression for various inflammatory mediators...

..Formal annual evaluation of the program and of trainees' progress will be used for ongoing program improvements. ..

..children's hospital boston critiques ..

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..Using this approach, several unique disorders of blood clotting and anemia have been studied. ..

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