Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Patricia K. Duffner"'
Autor:
Lissette Estrella, Patricia K. Duffner, Alejandro Iglesias, David A. Wenger, James M. Provenzale, Joseph J. Orsini, Jennifer M. Kwon, Denise M. Kay, Patricia Galvin-Parton, Georgianne L. Arnold, Joan E. Pellegrino, Maria L. Escolar, David Kronn, Michele Caggana, Joanne Kurtzberg, Richard W. Erbe, Alan M. Aron, Paul A. Levy, Mary R. Andriola, Thomas P. Naidich, Melissa P. Wasserstein, Thomas J. Langan
Publikováno v:
Genetics in Medicine. 18:1235-1243
Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. Infants with abnormal newb
Autor:
Patricia K. Duffner, Karen A. Sanders, Piero Rinaldo, Thomas J. Langan, Maria L. Escolar, Silvia Tortorelli, Dietrich Matern, Coleman T. Turgeon, Dimitar Gavrilov, Joseph J. Orsini, Mark J. Magera, Devin Oglesbee, Kimiyo Raymond
Publikováno v:
Journal of Inherited Metabolic Disease. 38:923-929
Newborn screening (NBS) for Krabbe disease (KD) in New York and Missouri is conducted by measuring galactocerebrosidase (GALC) activity using tandem mass spectrometry (MS/MS). These NBS efforts have shown that the incidence of KD is unexpectedly low
Autor:
Lu Chen, Floyd Daniel Armstrong, Kathleen J. Helton, Beverly Bell, Patricia K. Duffner, Martin L. Brecher, Allen R. Chauvenet
Publikováno v:
Journal of Pediatric Hematology/Oncology. 36:8-15
Concerns about long-term methotrexate (MTX) neurotoxicity in the 1990s led to modifications in intrathecal (IT) therapy, leucovorin rescue, and frequency of systemic MTX administration in children with acute lymphoblastic leukemia. In this study, neu
Autor:
Ahmed Abdelhalim, Li Yan, Steven R. Gill, Patricia K. Duffner, Amy Barczykowski, Kabir Jalal, Randy L. Carter, Ann L. Gill, Denise M. Kay
Publikováno v:
Pediatric Neurology. 46:298-306
The majority of newborns screening positive for Krabbe disease have not exhibited the expected early infantile phenotype, with most clinically normal despite low galactocerebrosidase activity and two mutations. Most are expected to develop the later
Autor:
Patricia K. Duffner, Jonathan L. Finlay, Ian F. Pollack, Maura Massimino, J. Russell Geyer, Stergios Zacharoulis, Jacques Grill, Lucas Moreno
Publikováno v:
Journal of Pediatric Hematology/Oncology. 32:515-518
The role of cytology of cerebrospinal fluid (CSF) has not been established in pediatric ependymoma. Thirty-two children with metastatic ependymoma were analyzed: 11 patients had only positive CSF cytology, 6 had only positive magnetic resonance imagi
Autor:
Patricia K. Duffner
Publikováno v:
European Journal of Paediatric Neurology. 14:106-115
The long term effects of central nervous system therapy for children with brain tumors have been the subject of research since the 1970s. Many studies have demonstrated that children treated for brain tumors with surgery and standard radiation therap
Autor:
Verne S. Caviness, Patricia K. Duffner, Richard W. Erbe, Chester B. Whitley, Kirk R. Schultz, Marc C. Patterson, David A. Wenger
Publikováno v:
Genetics in Medicine. 11:450-454
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York
Publikováno v:
Pediatric Neurology. 40:13-18
The objective was to identify presenting signs and symptoms, age at onset of symptoms and diagnosis, and survival in a large population of children with Krabbe disease. In 1997, Hunter's Hope Foundation began collecting clinical data on patients who
Autor:
Patricia K. Duffner
Publikováno v:
Expert Review of Neurotherapeutics. 7:875-885
Brain tumors are the most common solid tumor of childhood. The presenting signs and symptoms reflect the nature and location of the tumor, the presence of increased intracranial pressure, and the age and development of the child. A detailed history a
Autor:
Patricia Galvin-Parton, David A. Wenger, Melissa P. Wasserstein, Denise M. Kay, Joan E. Pellegrino, Lea M. Krein, David Kronn, Carlos A. Saavedra-Matiz, Michele Caggana, Richard W. Erbe, Jennifer M. Kwon, Maria L. Escolar, Alejandro D. Iglesias, Chad K. Biski, Natasha Shur, Monica Martin, Georgianne L. Arnold, Joseph J. Orsini, Paul A. Levy, Matthew Nichols, Joanne Kurtzberg, Darius J. Adams, Patricia K. Duffner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(3)
Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New Y