A survey of the status of pediatric and neonatal care in a university general hospital was conducted for a 12-month period in order to define existing needs and plan for improved inpatient genetic management. The records of 218 patients with one of 22 specified disorders were reviewed to evaluate the nature of documented genetic considerations and formulated dispositions during hospitalization. The 22 clinical entities were classified as chromosomal, single-gene, polygenic, or possibly genetic. In 15.1 per cent of cases the need for genetic counseling was recognized and recorded on the patient's chart. Sixteen of the 218 records (7.3%) met the minimum criteria for a "genetic disposition." Suggestions for improving the hospital clinical management of patients with genetic disorders are presented.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/000992288102000302 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer.
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.
KaRhab: an international online registry for cardiac rhabdomyomas.
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 PDFGenetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.
Hum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFA dedicated caller for DUX4 rearrangements from whole-genome sequencing data.
BMC 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 PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!