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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
Effects of aspirin and omega-3 fatty acids on age-related macular degeneration in ASCEND-Eye: a randomised placebo-controlled trial in a population with diabetes
PurposeAspirin and omega-3 fatty acids (FAs) are potential disease modifiers of age-related macular degeneration (AMD), but previous studies have produced inconsistent findings. Randomised evidence for the efficacy and safety of aspirin and omega-3 FAs on AMD is presented in this study.DesignASCEND-Eye is a substudy of eye effects in the 2×2 factorial design ASCEND (A Study of Cardiovascular Events iN Diabetes) double-blind, randomised, placebo-controlled trial for the primary prevention of cardiovascular events. Reports of AMD diagnoses were sourced from 6 monthly ASCEND follow-up questionnaires and a Visual Function Questionnaire.Participants15 480 UK adults at least 40 years of age with diabetes but no evident cardiovascular disease.Interventions100 mg aspirin daily versus placebo and, separately, 1 g omega-3 FAs daily versus placebo.Main outcome measureThe first post-randomisation reports of AMD.ResultsDuring 7.4 years of follow-up, 122 (1.6%) participants randomised to aspirin were reported as having AMD, compared with 138 (1.8%) randomised to placebo (rate ratio 0.88; 95% CI 0.69 to 1.12; p=0.31). AMD occurred in 130 (1.7%) participants randomised to omega-3 FAs, compared with 130 (1.7%) randomised to placebo (rate ratio 0.99; 95% CI 0.78 to 1.27; p=0.99).ConclusionNo clinically-meaningful effects of aspirin or omega-3 FAs on AMD were found. Although the study had very limited statistical power to detect clinically relevant effects, these data overcome some methodological limitations of previous observational studies, providing randomised evidence of both treatments on AMD, which could contribute to future meta-analyses.Trial registration number ISRCTN60635500 and NCT00135226.
Journal Article
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
Commonality and Variability in Functional Networks in Children Under 5 Years Old
Functional brain networks support human cognition, yet how individualized network architecture emerges in early childhood remains poorly understood. Averaging across participants can obscure age-specific organization and person-to-person differences, particularly in slowly developing association cortices. We developed an age-appropriate functional reference that captured common structure across toddlers without averaging away individual variability, enabling estimation of each child's networks from resting-state fMRI. Across cohorts of 8-60-month-old children, we found individualized network organization-including finer-scale subdivisions and emerging language lateralization-well before age five. Network layouts showed longitudinal stability, with greater consistency in sensory than association regions. Within-network connectivity was stronger and explained age-related variance when networks were defined using individualized rather than group-consensus topography. Left-lateralization of language networks tracked age-normalized verbal ability, linking early functional architecture to emerging cognition. These findings show that behaviorally relevant brain networks arise far earlier than previously recognized, providing a foundation for studying typical development and early biomarkers.
Journal Article