Publications by authors named "J Verdu-Amoros"
Objective: A retrospective multicenter study to investigate the potential association between descriptive information related to pregnancy history and perinatal features and the risk of neuroblastoma (NB) in children.
Study Design: Data from 56 mothers during 105 pregnancies (56 cases of NB, 49 control siblings) were collected through face-to-face or telephone interviews with mothers of children diagnosed with NB, along with information extracted from Health System databases. Descriptive information related to (a) pregnancy history as maternal stressful life events with perceived distress during pregnancy, weight gain, alcohol and tobacco consumption, mode of delivery and gestational age; and (b) perinatal features as congenital pathologies, weight at birth and type of feeding were examined to identify potential risk factors for NB.
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
- The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
- Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
The use of CAR-T is becoming more widespread in the treatment of haematological malignancies. In adults, secondary myelodysplastic syndromes (MDS) after CAR-T have been described. However, there are currently no data on the risk of MDS following CAR-T in children treated for acute lymphoblastic leukaemia (ALL).
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- The study investigates the characteristics and quality of life (QoL) of patients diagnosed with childhood-onset craniopharyngioma, analyzing data from 66 patients treated between 2008 and 2022.
- Most patients were diagnosed at a young age (around 5 years) and faced long-term complications, including significant endocrine issues and visual deficits.
- QoL scores indicated that while patients rated their QoL higher than their parents did, factors like repeated surgeries, hypothalamic involvement, and the use of radiotherapy were found to negatively impact overall QoL.
Aggressive B-cell non-Hodgkin lymphomas (NHL) in children, adolescents, and young adults (CAYA) include Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and a subset of high-grade tumors with features intermediate between these entities whose genetic and molecular profiles have not been completely elucidated. In this study, we have characterized 37 aggressive B-NHL in CAYA, 33 with high-grade morphology, and 4 DLBCL with MYC rearrangement (MYC-R), using targeted next-generation sequencing and the aggressive lymphoma gene expression germinal center B-cell-like (GCB), activated B-cell-like (ABC), and dark zone signatures (DZsig). Twenty-two tumors had MYC-R without BCL2 breaks, and two MYC-non-R cases had BCL6 translocations.
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