Publications by authors named "E P Dugan"
Article Synopsis
- The study reviewed biotinidase gene variants in a large group of women undergoing reproductive carrier screening to improve management of those with significant gene changes.
- About 6.1% of the 91,637 women tested had pathogenic or likely pathogenic variants, with a specific variant (D444H) being the most common in 92.3% of cases.
- The results showed variations in heterozygote rates among different racial and ethnic groups, highlighting the potential for reproductive carrier screening to lead to earlier diagnoses compared to traditional newborn screening methods.
Despite its prominence, the ability to engineer Cupriavidus necator H16 for inorganic carbon uptake and fixation is underexplored. We tested the roles of endogenous and heterologous genes on C. necator inorganic carbon metabolism.
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- This study explores the roles of three long non-coding RNAs (OOSNCR1, OOSNCR2, and OOSNCR3) in bovine oocyte development and early embryogenesis, highlighting their expression patterns in somatic tissues and ovarian follicles during maturation.
- The lncRNAs were found to be primarily expressed in fetal ovaries and oocytes, peaking during oocyte maturation and decreasing after fertilization, with no expression by the 16-cell stage.
- Knockdown experiments showed that disrupting these lncRNAs led to reduced oocyte survival and impaired blastocyst development, indicating their crucial role in oocyte competency and early developmental processes.
Focal selective dorsal rhizotomy and concurrent deformity correction: a combined approach.
J Neurosurg Pediatr
September 2024
Objective: Selective dorsal rhizotomy (SDR) is a neurosurgical procedure to reduce spasticity in children with cerebral palsy and spastic diplegia. The authors developed a procedure called focal SDR for children with spasticity predominantly in the L5 or S1 motor distribution, which can be combined with orthopedic correction of fixed soft-tissue or bony deformity. The authors describe in detail the technique of minimally invasive focal SDR and propose selection criteria.
View Article and Find Full Text PDFBackground: Children with neuromuscular disorders, such as cerebral palsy, frequently develop foot deformities, such as equinopronovalgus and equinosupovarus, leading to walking difficulties and discomfort. Traditional assessment methods, including clinical measures and radiographs, often fail to capture the dynamic nature of these deformities, resulting in suboptimal treatment. 3D gait analysis using multisegment foot models offers a more detailed understanding of these deformities.
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