Results 81 to 90 of about 442,293 (268)

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant

Molecular Genetics & Genomic Medicine
Background X‐linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID.
Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi   +10 more
doaj   +1 more source

Immunoglobulin Depletion and Recovery Following Blinatumomab in Infants With KMT2A‐Rearranged ALL

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Adding blinatumomab to standard chemotherapy for infants with KMT2A‐rearranged acute B‐cell lymphoblastic leukemia (KMT2A‐r B‐ALL) improves outcomes. Although blinatumomab impairs immunoglobulin G (lgG) production, increasing infection susceptibility, IgG recovery remains poorly understood.
Miguel Vieira Martins, Paola de Lorenzo, Rishi S. Kotecha, Andishe Attarbaschi, Gabriele Escherich, Karsten Nysom, Jan Stary, Alina Ferster, Benoit Brethon, Franco Locatelli, Martin Schrappe, Peggy E. Scholte‐van Houtem, Maria G. Valsecchi, Rob Pieters, Inge M. van der Sluis   +14 more
wiley   +1 more source

Bridging the Gap in Neuroblastoma Care: Consensus‐Based Statements With Recommendations for Improved Patient and Caregiver Experiences

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neuroblastoma's complex, heterogeneous biology poses significant diagnostic and therapeutic challenges, often requiring caregivers to absorb complex information and participate in time‐sensitive decisions. However, caregivers often feel unprepared to evaluate options.
Vickie Buenger, Joseph Bauer, Jennifer Diamond, Maggie Fader, Shae Hansen, Jacqueline M. Kraveka, Johanna Schoen, Amber Shearer, Dena Sherwood   +8 more
wiley   +1 more source

A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report

Frontiers in Pediatrics
BackgroundMarfan Syndrome (MS) is a connective tissue disorder, an autosomal dominant condition mostly caused by variants in the FBN1 gene, which encodes for fibrillin-1 protein.
Marina Marsan, Mattia Brutti, F. Meloni, M. Marica, C. Soddu, F. Lai, D. Martorana, S. Savasta   +7 more
doaj   +1 more source

Characterization of a novel variant of Mycobacterium chimaera

Journal of Medical Microbiology, 2012
In this study, nonchromogenic mycobacteria were isolated from pulmonary samples of three patients in the Netherlands. All isolates had identical, unique 16S rRNA gene and 16S-23S ITS sequences, which were closely related to those of Mycobacterium chimaera and Mycobacterium marseillense.
van Ingen, J., Hoefsloot, W., Hoefsloot, W., Buijtels, P.C., Tortoli, E., Supply, P., Dekhuijzen, P.N.R., Boeree, M.J., van Soolingen, D.   +8 more
openaire   +5 more sources

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium   +24 more
wiley   +1 more source

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

Frontiers in Genetics
Background and ObjectivesDevelopmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developmental
Salia Bamba, Salia Bamba, Lala Sidibé, Lala Sidibé, Seybou H. Diallo, Seybou H. Diallo, Lassana Cissé, Kékouta Dembélé, Abdoulaye Yalcouyé, Weizhen Ji, Mohamed Emile Dembélé, Salimata Diarra, Salimata Diarra, Alassane dit Baneye Maiga, Oumou Traoré, Salimata Diallo, Samuel Ephrata Mefoung, Amadou Touré, Amadou Touré, Adama Koné, Lauren Jeffries, Cheick O. Guinto, Cheick O. Guinto, Emily K. Mis, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré, Guida Landouré   +28 more
doaj   +1 more source

The Future of Pediatric Hematology‐Oncology Fellowship Training: Reflections on the American Board of Pediatrics Training Model

Pediatric Blood &Cancer, EarlyView.
Scott C. Borinstein, Scott Moerdler, Alexander A. Boucher, Stacy L. Cooper, Rachel A Egler, Erika Friehling, Richard Ho, Catherine McGuinn, Kathryn S. Sutton, Stacey G. Zahler, Leslie Kersun, Jennifer Kesselheim   +11 more
wiley   +1 more source

Impact of Metastatic Patterns on Survival and Response to Therapy in Neuroblastoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background While the presence of metastases in neuroblastoma (NB) is a well‐established prognostic factor, the clinical significance of dissemination patterns and tumour burden and their impact on response and survival remains poorly understood.
Mariona Morell‐Daniel, Santiago Pérez‐Hoyos, Aroa Soriano, Ana Coma, Amalia Varo, Raquel Hladun, Gabriela Guillén, Soraya Mico, Marta Garrido, Lourdes Rubio, Alba Rubio‐San‐Simón, Ana Minguez, Ricardo López‐Almaraz, Laura Illade, Miguel F. Segura, Lucas Moreno   +15 more
wiley   +1 more source