Publications by authors named "M Christopher Adams"

Recurrent gain-of-function mutations in the histone reader protein ENL have been identified in Wilms tumor, the most prevalent pediatric kidney cancer. However, their pathological significance in kidney development and tumorigenesis in vivo remains elusive. Here, we generate mouse models mimicking ENL tumor (ENL) mutations and show that heterozygous mutant expression in Six2 nephrogenic or Foxd1 stromal lineages leads to severe, lineage-specific kidney defects, both resulting in neonatal lethality.

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Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in around 75% of affected individuals. Although no definitive genotype-phenotype correlations have been demonstrated, a more severe presentation has been proposed in association with biallelic loss of function variants as opposed to hypomorphic missense variants.

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Molybdenum (Mo) and tungsten (W) are elements that are utilized in biological systems. They are typically incorporated into the catalytic sites of enzymes coordinated to an organic pyranopterin cofactor; Mo may also be present in the form of a FeMo cofactor. While Mo is used by all branches of life, only a few microbes are able to utilize W.

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Introduction: Postoperative delirium occurs in up to 40% of older surgical patients and has been associated with prolonged hospital stays, long-term cognitive impairment and increased 1-year postoperative mortality. Postoperative sleep disturbances may increase the risk of delirium, but studies investigating pharmacotherapies to improve postoperative sleep to prevent delirium remain limited. Suvorexant is a selective antagonist of orexin 1 and 2 receptors and is approved for insomnia pharmacotherapy by the Food and Drug Administration.

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Purpose: Sarcomas account for approximately 10-15% of all cancer in children aged ≤ 16. Poorer health-related quality of life (HRQoL) is recorded in comparison to other cancers; however, these studies are limited by generic HRQoL measures not being specific to patients with sarcoma. The aim of this study was to develop paediatric version of the Sarcoma Assessment Measure (SAM).

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