This article identifies a significant transformation in the role and identity of parents accompanying their child to clinic. This shift is a product of the intersection between paediatric and genetic medicine, where parents play a critical role in providing information about their child, family and ultimately, about themselves. To provide a context for this matrix, two broad areas of sociological inquiry are highlighted. The first is explanations of the role a parent plays in paediatric medicine and the second is the diagnostic process in paediatric genetics and the implications for parent and child identities. Drawing from an ethnographic study of clinical consultations, attention is paid to the changing role of parenthood and the extended role of patienthood in paediatric genetic medicine.
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http://dx.doi.org/10.1111/1467-9566.12035 | DOI Listing |
J Ovarian Res
January 2025
Department of Medical Genetics, National Taiwan University Hospital, 19F, No. 8, Chung-Shan South Road, Taipei City, Taiwan.
Background: The homologous recombination deficiency (HRD) test is an important tool for identifying patients with epithelial ovarian cancer (EOC) benefit from the treatment with poly(adenosine diphosphate-ribose) polymerase inhibitor (PARPi). Using whole exome sequencing (WES)-based platform can provide information of gene mutations and HRD score; however, the clinical value of WES-based HRD test was less validated in EOC.
Methods: We enrolled 40 patients with EOC in the training cohort and 23 in the validation cohort.
Orphanet J Rare Dis
January 2025
Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.
Background: Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases.
View Article and Find Full Text PDFSuperficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK.
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect DUX4-r from short-read, whole-genome sequencing (WGS) data.
View Article and Find Full Text PDFBMC Med Imaging
January 2025
Department of Radiology, Shenzhen Children's Hospital, Shantou University Medical College, 7019 Yitian Road, Futian District, Shenzhen, 518038, China.
Background: Beta thalassemia major (β-TM) is a severe genetic anemia with considerable phenotypic heterogeneity. This study investigated whether genotype correlates with distinct myocardial iron overload patterns, assessed by cardiovascular magnetic resonance (CMR) T2* values.
Methods: CMR data for cardiac iron deposition evaluation, which recruited pediatric participants between January 2021 and December 2024, were analyzed with CVI42.
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