Publications by authors named "B D CORNER"
Article Synopsis
- Autosomal dominant congenital disorder of glycosylation (CDG) type Iw is caused by a mutation in a specific gene and differs from most CDGs, which are typically autosomal recessive.
- A 17-year-old male presented with a range of symptoms including macrocephaly, epilepsy, and developmental delays, but initial genetic tests and biochemical analyses did not indicate a clear diagnosis.
- Genome sequencing revealed a novel mutation that disrupts a glycosylation site, and the patient was ultimately diagnosed with CDG type Iw based on abnormal transferrin profiling, illustrating the variability in genetic disorders and the need for comprehensive testing.
Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy.
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- The Undiagnosed Disease Network (UDN) is a collaborative effort funded by the NIH, focused on diagnosing rare diseases through 12 clinical sites, including Vanderbilt University Medical Center (VUMC).
- At VUMC, experts in fields like bioinformatics, structural biology, and genetics worked together to identify a rare genetic variant in a 5-year-old girl with various neurological issues.
- The team diagnosed her with Primary Aldosteronism, Seizures, and Neurologic abnormalities (PASNA), showcasing the value of a multidisciplinary approach in addressing complex, rare diseases.
Measuring human body dimensions is critical for many engineering and product design domains. Nonetheless, acquiring body dimension data for populations using typical anthropometric methods poses challenges due to the time-consuming nature of manual methods. The measurement process for three-dimensional (3D) whole-body scanning can be much faster, but 3D scanning typically requires subjects to change into tight-fitting clothing, which increases time and cost and introduces privacy concerns.
View Article and Find Full Text PDFMedJEx: A Medical Jargon Extraction Model with Wiki's Hyperlink Span and Contextualized Masked Language Model Score.
Proc Conf Empir Methods Nat Lang Process
December 2022
This paper proposes a new natural language processing (NLP) application for identifying medical jargon terms potentially difficult for patients to comprehend from electronic health record (EHR) notes. We first present a novel and publicly available dataset with expert-annotated medical jargon terms from 18K+ EHR note sentences (). Then, we introduce a novel medical jargon extraction () model which has been shown to outperform existing state-of-the-art NLP models.
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