Results 61 to 70 of about 13,071,153 (288)

Venetoclax‐Based Therapy as a Bridge to Hematopoietic Stem Cell Transplantation in Relapsed or Refractory Pediatric Acute Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Relapsed and/or refractory (R/R) pediatric acute leukemia carries a dismal prognosis, largely driven by chemoresistance to conventional salvage therapy. The BH3‐mimetic venetoclax, combined with chemotherapy or hypomethylating agents, has demonstrated efficacy in small clinical trials.
Katherine S. Colman, Deborah Meyran, Vajiranee Malalasekera, Heather Weerdenburg, Janine Campbell, Rachel Conyers, Stacie Wang, Hannah Walker, Seong Lin Khaw, Diane Hanna   +9 more
wiley   +1 more source

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

International Journal of Neonatal Screening, 2021
Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to ...
Alexander Asamoah, Sainan Wei, Kelly E. Jackson, Joseph H. Hersh, Harvey Levy   +4 more
doaj   +1 more source

Language, Culture, and Cancer: Qualitative Insights Into Communication Disparities Among Spanish‐Speaking Caregivers of Children With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Latino children are projected to make up nearly one‐third of United States (US) children by 2060, and many of their caregivers speak Spanish. Prior survey research has documented communication difficulties for Spanish‐speaking caregivers of children with cancer, but contemporary qualitative data are limited.
Jenny Ruiz, Alejandra Curbelo‐Paz, Sonia Morales, Elizabeth Contreras, Amy Houtrow, Scott H. Maurer, Judy C. Chang   +6 more
wiley   +1 more source

Biphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.
Oded Gilad, Ohad Atia, Osama Tanous, Dafna Brik Simon, Michal Dvori, Miriam Cohen, Tracie A. Goldberg, Efraim Bilavsky, Joanne Yacobovich, Orna Steinberg‐Shemer   +9 more
wiley   +1 more source

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs

Metabolites
Background: The advent of tandem mass spectrometry (MS/MS) had an essential role in the expansion of newborn screening (NBS) for different inborn errors of metabolism (IEMs). Nowadays, almost 50 IEMs are screened in Italy. The use of second-tier tests (2-
Maria Lucia Tommolini, Maria Concetta Cufaro, Silvia Valentinuzzi, Ilaria Cicalini, Mirco Zucchelli, Alberto Frisco, Simonetta Simonetti, Michela Perrone Donnorso, Sara Moccia, Ines Bucci, Maurizio Aricò, Vincenzo De Laurenzi, Luca Federici, Damiana Pieragostino, Claudia Rossi   +14 more
doaj   +1 more source

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

International Journal of Neonatal Screening, 2020
We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia.
Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox   +5 more
doaj   +1 more source

Bone Mineral Density After Contemporary Treatment for Acute Lymphoblastic Leukaemia: A Matched Cross‐Sectional Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Reduced bone mineral density (BMD) has been reported in survivors of childhood and young adult acute lymphoblastic leukaemia (ALL); however, data from cohorts treated with contemporary protocols and including matched controls remain limited.
Karen Schow Jensen, Mette Tiedemann Skipper, Niels Holtum Birkebæk, Kjeld Schmiegelow, Thomas Leth Frandsen, Bente Langdahl, Rikke Beck Jensen, Asger Roer Pedersen, Christian Mølgaard, Liv Andrés‐Jensen, Birgitte Klug Albertsen   +10 more
wiley   +1 more source

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment

International Journal of Neonatal Screening
CblC deficiency is the most common intracellular disorder of vitamin B12 metabolism. Expanded newborn screening (NBS) plays a key role in early diagnosis, allowing timely treatment and preventing serious complications.
Francesca Nardecchia, Agnese De Giorgi, Silvia Santagata, Teresa Giovanniello, Manuela Tolve, Antonio Angeloni, Vincenzo Leuzzi, Francesco Pisani, Claudia Carducci   +8 more
doaj   +1 more source

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

Human Genomics, 2020
Background Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, and T13 after serum biochemistry ...
Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, Guoquan Chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang, Fubing Yu   +13 more
doaj   +1 more source

Item - Test Alternate Title

Item - Test Description ...
Item - Test Creator 1, Item - Test Creator 3, Item - Test Creator 2   +2 more
core   +1 more source