Publications by authors named "Kelly Fagan"
Cas9 editing of in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons.
Mol Ther Nucleic Acids
December 2024
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the gene. Currently there are no disease-modifying treatments; however, previous work has shown the potential of gene therapy, specifically RNAi, as a potential modality. Cas9 editing offers potential for these patients but has yet to be evaluated in SCA1 models.
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- Researchers identified bi-allelic disruptive variants as the cause of autosomal recessive intellectual developmental disorder type 65, while dominant variants are harder to link to specific traits due to their presence in unaffected individuals.
- The study involved a retrospective analysis of 21 individuals with likely pathogenic variants, focusing on clinical information and molecular data from their families.
- Key findings revealed that those with dominant disruptive variants exhibited more developmental and behavioral problems, while individuals with dominant missense variants had a higher occurrence of renal and skin anomalies, enhancing the understanding of the related neurodevelopmental disorder.
Therapeutic hypothermia (TH) mitigates neuronal injury in models of ischemic stroke. Although this therapy is meant for injured tissue, most protocols cool the whole body, including the contralesional hemisphere. Neuroplasticity responses within this hemisphere can affect functional outcome.
View Article and Find Full Text PDFParents' Perspectives on Navigating the Work of Speaking Up in the NICU.
J Obstet Gynecol Neonatal Nurs
May 2018
Objective: To describe parents' perspectives and likelihood of speaking up about safety concerns in the NICU and identify barriers and facilitators to parents speaking up.
Design: Exploratory, qualitatively driven, mixed-methods design.
Setting: A 50-bed U.
Studies treating intracerebral hemorrhage (ICH) with therapeutic hypothermia (TH) have shown inconsistent benefits. We hypothesized that TH's anti-inflammatory effects may be responsible as inflammatory cells are essential for removing degrading erythrocytes. Here, we subjected rats to a collagenase-induced striatal ICH followed by whole-body TH (∼33℃ for 11-72 h) or normothermia.
View Article and Find Full Text PDFBackground & Objectives: Little is known about how parents think about neonatal intensive care unit (NICU) safety. Due to their physiologic immaturity and small size, infants in NICUs are especially vulnerable to injury from their medical care. Campaigns are underway to integrate patients and family members into patient safety.
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