Publications by authors named "A M Penton"
Article Synopsis
- - The study aimed to evaluate how effective single nucleotide polymorphisms (SNP) microarray analysis is for identifying uniparental disomy (UPD) using both trios (both parents) and duos (only one parent).
- - Results showed that the Mendelian Inheritance Error (MIE) values were distinct for UPD and biparental inheritance, with specific ranges indicating UPD in trios and high percentages of heterozygous SNPs (AB%) suggesting UPD in duos.
- - The findings highlight that SNP microarrays can effectively detect UPD, but there may be challenges in reliably identifying large homozygosity regions, affecting the overall effectiveness of UPD testing.
Transcarotid arterial revascularization is feasible and safe with concomitant inferior vena cava occlusion.
J Vasc Surg Cases Innov Tech
June 2024
Transcarotid artery revascularization (TCAR) has risen as a promising minimally invasive intervention for high-risk patients with favorable anatomy. TCAR's noninferiority to carotid endarterectomy regarding stroke is reliant on its flow reversal technology and lack of aortic arch manipulation. We present the case of a 79-year-old man with a chronically occluded inferior vena cava who safely underwent staged bilateral TCAR for bilateral high-grade carotid artery stenosis.
View Article and Find Full Text PDFObjectives: To investigate the prenatal detection rate of mosaicism by SNP microarray analysis, in which an individual has not one, but two, complete genomes (sets of DNA) in their body, a normal biparental line with a Genome Wide Uniparental Disomy (GWUPD) cell line was used.
Methods: This study retrospectively examines the prenatal detection of GWUPD in a cohort of ∼90,000 prenatal specimens and ∼20,000 products of conceptions (POCs) that were studied by SNP microarray.
Results: In total, 25 cases of GWUPD were detected; 16 cases were detected prenatally with GWUPD (∼0.
Objective: The purpose of this study was to create a risk score for the event of mortality within 3 years of complex fenestrated visceral segment endovascular aortic repair utilizing variables existing at the time of preoperative presentation.
Methods: After exclusions, 1916 patients were identified in the Vascular Quality Initiative who were included in the analysis. The first step in development of the risk score was univariable analysis for the primary outcome of mortality within 3 years of surgery.
Background: B-lymphoblastic leukemia/lymphomas (B-ALL/LBL) are uncommon neoplasms that may be associated with a variety of cytogenetic and molecular changes. The mechanisms by which these changes arise have not been fully described.
Aims/purpose: This report describes an unusual case of B-ALL/LBL with complex clonal evolution that includes BCL2 and MYC gene rearrangements.