Publications by authors named "Alexandria Thomas"
Article Synopsis
- * A study involved 356 participants, using advanced DNA sequencing techniques on cells from lymphatic fluid, which revealed genetic variations in a significant percentage of participants with primary complex lymphatic anomalies (pCLAs) and other vascular malformations.
- * This research resulted in a molecular diagnosis for many participants, enabling new medical therapies for 63% of those affected, highlighting the potential of liquid biopsy techniques in diagnosing and treating vascular anomalies.
Previous research has commonly evaluated preference stability over time and across multiple preference assessment administrations. No studies have evaluated shifts in preference across consecutive rounds of a single preference assessment, where rounds refer to each time the experimenter resets the stimulus-presentation array. The purpose of the present study was to examine the stability of stimulus selections across successive rounds of a multiple-stimulus-without-replacement (MSWO) preference assessment with different classes of stimuli for children with autism.
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- The rise in SARS-CoV-2 infections has led to a global COVID-19 pandemic, prompting a study focusing on genetic factors influencing infection susceptibility among different ethnicities, specifically in pediatric populations.
- The study analyzed data from 498 cases and 1,533 controls of African ancestry, and 271 cases with 855 controls of European ancestry, noting the small sample size due to low COVID prevalence in children.
- Key findings suggest that specific genetic variants, including those at loci like SEMA6D and NFIA, could be linked to COVID-19 susceptibility, with the pediatric cohort showing some overlap with adult studies' results.
Background Student-run free clinics (SRFCs) combine medical student learning with the provision of free health care. A comprehensive evaluation of patient experience at SRFCs is needed to ensure a balance between valuable clinical experience for students and enhancement of patient care. The aim of this study was to describe patient and medical student perception of care at a longstanding SRFC at the University of Cape Town (UCT).
View Article and Find Full Text PDFCopy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry, using SNP and CGH array datasets. We observe an average CNV burden of ~650 kb, identifying a total of 11,314 deletion, 5625 duplication, and 2746 homozygous deletion CNV regions (CNVRs).
View Article and Find Full Text PDFSurgical management of transitional cell carcinoma of the lacrimal sac: Is it time for a new treatment algorithm?
J Plast Reconstr Aesthet Surg
February 2012
Transitional cell carcinoma (TCC) arising in the lacrimal sac is a rare neoplasm. Despite radical surgery and radiotherapy, these tumors generally have a poor prognosis due to an often late diagnosis, high rate of loco-regional recurrence and mortality. There are only a relatively small number of documented cases of TCC when compared to other epithelial malignancies of the lacrimal drainage system.
View Article and Find Full Text PDFAn unusual case of Epstein-Barr virus complicated by multiple cranial nerve neuropathy.
Otolaryngol Head Neck Surg
November 2010