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"Latham, Donna"
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Canals and dams : investigate feats of engineering
Introduces civil engineering through twenty-five simple experiments that explore such concepts as Newton's third law of motion, buoyancy, and centrifugal force.
Book
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).
Prospective natural history protocol.
In 12 individuals ages 2 to 21 years with confirmed, biallelic, pathogenic NGLY1 mutations, we identified previously unreported clinical features, including optic atrophy and retinal pigmentary changes/cone dystrophy, delayed bone age, joint hypermobility, and lower than predicted resting energy expenditure. Novel laboratory findings include low cerebral spinal fluid (CSF) total protein and albumin and unusually high antibody titers toward rubella and/or rubeola following vaccination. We also confirmed and further quantified previously reported findings noting that decreased tear production, transient transaminitis, small feet, a complex hyperkinetic movement disorder, and varying degrees of global developmental delay with relatively preserved socialization are the most consistent features.
Our prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions.
Journal Article
Skyscrapers : investigate feats of engineering
Examines the physical science behind the construction of skyscrapers, covering such topics as gravity, inertia, oscillation, and static electricity. Looks at how the engineering and building techniques involved in the creation of present-day skyscrapers evolved over time.
Book
Awards: 2023 Charlotte Huck Award for Outstanding Fiction for Children
This column showcases winners of the 2023 Charlotte Huck Award for Outstanding Fiction for children.
Journal Article
False-negative contrast-enhanced spectral mammography: use of more than one imaging modality and application of the triple test avoids misdiagnosis
A 50-year-old woman presented with chest tenderness. On examination, both breasts were lumpy. Bilateral mammography showed heterogeneously dense parenchyma, with possible stromal distortion laterally on the right at the 0900 position. On ultrasound (US), a corresponding 13×9×10 mm irregular hypoechoic mass with internal vascularity was noted and both breasts had a complex heterogeneous fibroglandular background pattern. US-guided core biopsy with marker clip insertion was performed with the diagnosis of a grade 2 invasive ductal carcinoma (IDC). In view of the parenchymal pattern on mammography and US, contrast-enhanced spectral mammography (CESM) was performed for local staging. Mild background enhancement was noted, but there was no enhancement at the lesion site. The patient elected to have bilateral mastectomies and sentinel node biopsies. Final histopathology showed a node negative 11 mm grade 2 oestrogen and progesterone receptor positive, IDC.
Journal Article
2022 Charlotte Huck Award for Outstanding Fiction for Children
This column showcases winners of the 2022 Charlotte Huck Award for Outstanding Fiction for children.
Journal Article
2021 Charlotte Huck Award for Outstanding Fiction for Children
This column showcases winners of the 2021 Charlotte Huck Award for Outstanding Fiction for Children.
Journal Article