Results 61 to 70 of about 442,293 (268)

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Case Report: A novel likely pathogenic GCK variant in a young Chinese girl with severe insulin resistance

Frontiers in Endocrinology
ObjectiveTo report a novel GCK variant (c.263T>C) identified in a patient with glucokinase-maturity-onset diabetes of the young (GCK-MODY) and to evaluate its pathogenicity and potential structural impact using in silico analyses.
Haoyu Bai, Jie Yu, Tong Wang, Jing Ren, Chuhan Shao, Qian Zhang, Xinhua Xiao   +6 more
doaj   +1 more source

Health Literacy, Self‐Efficacy and Knowledge of Sickle Cell Disease Among Caregivers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a hereditary blood disorder in which abnormal haemoglobin leads to severe anaemia, painful crises and organ failure. Caregivers’ health literacy (HL) – their ability to assess, understand and apply information, and interact with healthcare professionals – is crucial for managing children with SCD, yet ...
Melanie Bruinooge, Maite E. Houwing, Rowena L. Grohssteiner, Ferdows Atiq, Sonja A. M. C. Teuben, Mirjam P. Fransen, Marjon H. Cnossen   +6 more
wiley   +1 more source

Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia

Frontiers in Genetics
Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the WNT10A gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin.
Marianna Kalaszi, Ciaran Moore, Chrysoula Koniari, Theodoros Mavridis   +3 more
doaj   +1 more source

Leukemia and Exposure to Potential Benzene Sources in Children From the Mexico City Metropolitan Area, 2010–2021: A Geospatial Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Leukemia is the most common childhood cancer in Mexico, and acute lymphoblastic leukemia (ALL) is the most frequent subtype. Exposure to high concentrations of benzene has been associated with ALL incidence, particularly in urban areas. This study evaluated the relationship between distance to benzene emission sources and the number
Orlando Rivera Zurita, Norma Candelaria López Santiago, Claudia Maria García Cuellar, Karla Maldonado Silva, Nancy Reynoso Noverón, Leticia Hernández Cadena   +5 more
wiley   +1 more source

Psychosocial Functioning After Pediatric Bone Sarcoma: Generic and Survivor‐Specific Outcomes in Adolescent and Young Adult Patients

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric bone sarcoma patients and survivors may experience psychosocial challenges related to childhood cancer after their intensive, body‐altering treatment. This cross‐sectional study aimed to evaluate generic and survivor‐specific psychosocial outcomes in a national cohort of pediatric bone sarcoma patients and survivors, and ...
Hinke van der Hoek, Heleen Maurice‐Stam, Laura R. Beek, Jennifer van Dijk, Marjolein E. M. Langemeijer, Relinde W. Slooff‐Lentink, Alied M. van der Aa‐van Delden, Anne Westerweel, Marloes van Gorp, Hendrik W. B. Schreuder, Lianne M. Haveman, W. Peter Bekkering, Leonie G. Tigelaar, Johannes H. M. Merks, Martha A. Grootenhuis   +14 more
wiley   +1 more source

NovelACTN1variants in cases of thrombocytopenia [PDF]

Human Mutation, 2019
The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia.
Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud-Roux, Marie-Françoise, Roussel, Alain, Biron-Andreani, Christine, Claisse, Jean-François, Dulery, Remy, Durot, Eric, Fiore, Véronique, Favier, Rémi, Fenaux, Pierre, Guerrero, Felipe, Le Cam-Duchez, Véronique, Mazoyer, Elisabeth, Müller, Stephanie, Neven, Benedicte, Pouymayou, Catherine, Royer, Bruno, Sie, Pierre, Thouvenin, Sandrine, Trichet, Catherine, Trillot, Nathalie, Yakouben, Karima, Nicole, Schlegel, Alessi, Marie-Christine   +26 more
openaire   +4 more sources

An [Imperfect] Case for Dyadic Research in Pediatric Psychosocial Oncology

Pediatric Blood &Cancer, EarlyView.
Stephanie M. Nanos, Lindsay A. Jibb, Gary Rodin   +2 more
wiley   +1 more source

Ironic Medications: A Narrative‐Based Psycho‐Educational Intervention to Explore Patient–Provider Communication in Adolescents With Haematological Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with haematological malignancies face significant emotional and relational challenges, often accompanied by difficulties in communicating their needs within the healthcare context. To address these issues, a narrative‐based psycho‐educational intervention based on the creation and prescription of Ironic Medications was ...
Marta Stoppa, Elena Pagani Bagliacca, Selena Russo, Giulia Rampoldi, Maria Grazia Strepparava, Adriana Cristina Balduzzi, Andrea Biondi, Marco Spinelli   +7 more
wiley   +1 more source

Incidence and Severity of Carboplatin‐Associated Hearing Loss in Children With Cancer Assessed by the SIOP Boston 2012 Ototoxicity Criteria

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Platinum‐based chemotherapy is known to cause severe and debilitating hearing loss, but unlike cisplatin, the true incidence of carboplatin‐induced hearing loss remains unclear. We evaluated functional hearing outcomes in children receiving carboplatin to determine the incidence and severity of ototoxicity. Procedure We identified a
Aniket Chawla, Sean Carter, Andrew Wood, Sandra Staffieri, Andrew Dodgshun, David D. Eisenstat, Michael Sullivan   +6 more
wiley   +1 more source