Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.

Gaucher disease is an inherited lysosomal storage disorder caused by mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase. Inadequate enzymatic activity causes cells to become engorged due to an accumulation of glycolipids. Engorged cells then accumulate in various organs, resulting in a range of signs and symptoms.

Translocation (4;19)(q35;q13.1)-associated primitive round cell sarcoma: report of a case and review of the literature.

We report the 4th case of a primitive round cell sarcoma with the translocation (4;19)(q35;q13.1) as the primary cytogenetic abnormality. This undifferentiated sarcoma shows some features of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), including a diffuse reactivity for FLI1, but it shows only focal and weak reactivity for CD99 and is negative for a rearrangement of EWS, the molecular signature of ES/PNET.

Umbilical cord blood transplantation in adults: results of the prospective Cord Blood Transplantation (COBLT).

The Cord Blood Transplantation study group conducted a prospective study of unrelated cord blood transplantation (CBT) to better define the role of this stem cell source for subjects requiring unrelated allogeneic transplantation. We report on 1 stratum of the study designated for adult subjects. The primary end point of the study was survival at 180 days.

The use of recombinant erythropoietin in the reduction of blood transfusion rates in craniosynostosis repair in infants and children.

The vast majority of infants and children undergoing craniosynostosis correction receive a blood transfusion. The risks of blood transfusion include, but are not limited to, acute hemolytic reactions (approximately 1 of 250,000), human immunodeficiency virus (approximately 1 of 200,000), hepatitis B and C (approximately 1 of 30,000 each), and transfusion-related lung injuries (approximately 1 of 5000). This prospective, single-blinded, randomized study was undertaken to examine the safety and efficacy of preoperative single weekly dosing with erythropoietin (epoetin alfa) in reducing the rate of transfusion in infants and small children undergoing craniosynostosis repair.