Papers by Maria Echevarria
Journal of Pediatric Hematology/Oncology, 2010
Background-Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder characterized by al... more Background-Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages 1. Patients that are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery. Objective-To determine the prevalence of HPS-3 in Puerto Rican newborns using DNA pooling technique. Design/Methods-Twelve percent of annual Puerto Rican births were tested randomly by PCR for the HPS-3 mutation, using pooled DNA extracted from dried blood samples. Results-HPS-3 mutation was detected in 75 samples. Two newborns were found to be homozygous. Carrier frequency was 1:85 (1.18%). Conclusions-The HPS-3 carrier frequency found (1.18%) justifies universal newborn screening in Puerto Rico. DNA pooling reduces time and labor in newborn screening thus facilitating early diagnosis and treatment of children with HPS-3 and the provision of genetic counseling to parents and relatives.
The Oncologist, 2008
Learning Objectives After completing this course, the reader will be able to: Discuss the basic e... more Learning Objectives After completing this course, the reader will be able to: Discuss the basic epidemiology of pediatric CNS GCTs.Perform the diagnostic workup and full evaluation that is necessary when evaluating a patient with a suspected CNS GCT.Select among the different therapeutic alternatives employed in treating children with a CNS GCT. CME This article is available for continuing medical education credit at CME.TheOncologist.com Central nervous system (CNS) germ cell tumors (GCTs) represent approximately 3% of primary pediatric brain tumors and encompass a wide pathologic spectrum. CNS GCTs are most commonly located in the pineal and suprasellar regions of the brain and can be divided into major groups including germinomas and nongerminomatous GCTs (NGGCTs), with teratomas often considered a separate category. The clinical presentation varies by location and size, and it frequently includes endocrine abnormalities, visual changes, and signs of increased intracranial pressu...
Human Immunology, 2006
Aim: Bone marrow transplantation (BMT) has become the treatment of choice for patients with haema... more Aim: Bone marrow transplantation (BMT) has become the treatment of choice for patients with haematological and immunodeficiency diseases. Human leukocyte antigen (HLA) matching for bone marrow donors and recipients is crucial for the success of BMT. HLA matched related donors are available for only 20-30% of the patients. The introduction of newer molecular tissue typing techniques has contributed significantly in search for unrelated volunteers as safe potential donors. This has advanced the cause of development of BMT registry and enhanced the probability of findings fully HLA matched unrelated donors.
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Papers by Maria Echevarria