Publications by authors named "E Fanning"
Article Synopsis
- Klinefelter syndrome is a genetic condition characterized by the presence of an extra X chromosome (47,XXY), occurring in about 1 in 600 male births, while a rarer combination with some 46,XX cells also exists.
- A study analyzed the clinical records of 34 patients with this unique karyotype across 14 medical institutions, finding significant variability in symptoms and the proportion of XX cells in their samples.
- The research concluded that clinical manifestations are highly diverse, which complicates treatment, and emphasized the importance of using advanced genetic testing methods to accurately identify the condition due to potential mosaicism.
Background: TP53 alterations are common in certain pediatric cancers, making identification of putative germline variants through tumor genomic profiling crucial for disease management.
Methods: We analyzed TP53 alterations in 3123 tumors from 2788 pediatric patients sequenced using tumor-only or tumor-normal paired panels. Germline confirmatory testing was performed when indicated.
Background: Humans are exposed to hazardous chemicals found in consumer products. In 2019, the Pollution Prevention for Healthy People and Puget Sound Act was passed in Washington State. This law is meant to reduce hazardous chemicals in consumer products and protect human health and the environment.
View Article and Find Full Text PDFThis study aimed to establish a rapid and practical method for monitoring and predicting volatile compounds during coffee roasting using near-infrared (NIR) spectroscopy coupled with chemometrics. Washed Arabica coffee beans from Ethiopia and Congo were roasted to industry-validated light, medium, and dark degrees. Concurrent analysis of the samples was performed using gas chromatography-mass spectrometry (GC-MS) and NIR spectroscopy, generating datasets for partial least squares (PLS) regression analysis.
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