Publications by authors named "M P De Bethune"

Cleft lip and/or palate (CL/CP) is the most common congenital craniofacial anomaly and parents often ask, "how did this happen?" Patients and families may benefit from access to a multidisciplinary team (MDT) from prenatal diagnosis into early adulthood. Multiple factors can contribute to the development of a cleft. We discuss the epidemiology and risk factors that increase the likelihood of having a newborn with a cleft.

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Neoantigens are peptides derived from non-synonymous mutations presented by human leukocyte antigens (HLAs), which are recognized by antitumour T cells. The large HLA allele diversity and limiting clinical samples have restricted the study of the landscape of neoantigen-targeted T cell responses in patients over their treatment course. Here we applied recently developed technologies to capture neoantigen-specific T cells from blood and tumours from patients with metastatic melanoma with or without response to anti-programmed death receptor 1 (PD-1) immunotherapy.

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Article Synopsis
  • T cell receptors (TCRs) are crucial for T cells to detect cancer cell mutations, and researchers used a CRISPR-Cas9 method to edit TCR genes in a clinical trial setting.
  • Sixteen patients with advanced solid cancers received personalized T cell therapies featuring engineered neoTCRs, with most participants experiencing either stable disease or disease progression.
  • The study confirmed that it is feasible to create multiple engineered TCRs, showing the safety and effectiveness of infusing gene-edited T cells that can successfully target tumors.
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Border Disease (BD) is a major sheep disease characterized by immunosuppression, congenital disorders, abortion, and birth of lambs persistently infected (PI) by Border Disease Virus (BDV). Control measures are based on the elimination of PI lambs, biosecurity, and frequent vaccination which aims to prevent fetal infection and birth of PI. As there are no vaccines against BDV, farmers use vaccines directed against the related Bovine Viral Diarrhea Virus (BVDV).

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Background: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing.

Objective: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities.

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