Sarah Lawrence College
Not a member yet
1285 research outputs found
Sort by
Examining Rare Instances of Vexas Syndrome in Females
Get PDFVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset inflammatory condition. Initially thought to only affect males with a specific myeloid-lineage UBA1 somatic mutation, it was hypothesized that females with the same pathogenic mutation might have a milder form of the condition due to its X-linked inheritance. However, recent research has demonstrated that the genotypic and phenotypic profile of VEXAS patients is expanding, with a recent subset of female patients being identified. This literature review investigates the clinical features and UBA1 somatic mutations in females with VEXAS, aiming to understand how the condition presents in females compared to males. Notably, this review identified that although VEXAS syndrome presents at a lower frequency in females, the clinical features are similar. The most frequent symptoms among our literature-based cohort in both sexes were rheumatological symptoms. Gastrointestinal involvement and fatigue was exclusively reported in male patients with VEXAS, and the c.122T\u3eC, p.Met41Thr somatic mutation was the most common mutation identified in both sexes. Overall, the findings of this review indicate that female patients who meet the criteria for relapsing polychondritis and/or myelodysplastic syndrome, and have any of the following symptoms: macrocytic anemia, thrombocytopenia, arthritis, fever, chondritis, should undergo somatic UBA1 genetic testing. Further research with female patients is needed to expand the clinical picture of this disease, and to understand how VEXAS syndrome manifests in this population
Searching for Charlotte Salomon
No full textA negative-space portrait of the artist Charlotte Salomon, who perished during the Holocaus
Searching for Charlotte Salomon
No full textA negative space portrait of Charlotte Salomon, an artist who perished during the Holocaus
The Time Machine to Neverland: A Multiple-Case Study Exploration of the Impact of the Covid-19 Lockdown on Childhood and Development
Get PDFThe emergence of the Covid-19 pandemic and the lockdown of 2020 impacted the world profoundly, both on global and individual levels. In many respects, the world returned to “normal” in the ensuing years. However, what does “normal” mean for a child whose development was interrupted by lockdown, depriving them of experiences that they would have otherwise encountered on their developmental trajectory? How might the impacts of such an interruption manifest in subsequent years? This thesis explores some such potential consequences, utilizing a multiple-case study design to explore the intersection between early childhood developmental theory and the impact of the Covid-19 lockdown of 2020. For this study, individual therapy sessions were conducted with two fourth graders (aged 9-10) throughout the course of their academic year. These children experienced lockdown in early childhood, a developmental stage during which new forms of play and socialization are typically explored in collective settings. Findings indicate that deprivation of peer interaction in early childhood as a result of mandatory social isolation and school closures have potential to impact emotional regulation, academic capacities, and one’s relationship to rules and boundaries in middle childhood. Lastly, this thesis offers further directions for exploration in an effort to mitigate further stress on children, teachers, and caregivers
Development and Piloting of Patient Education Material on Pharmacogenomic Testing
Get PDFPharmacogenomic (PGx) testing is increasingly utilized in patient care, with the potential to personalize the use of medication for individual patients. However, many barriers stand in the way of PGx testing becoming standard-of-care, including a lack of resources for patient education. The objective of this study was to develop and pilot a pre-test educational tool for clinical PGx testing and gather patient input. We designed a one- page, printed PEM which was piloted at a genetic counseling clinic in Cincinnati, Ohio. In total, 53 participants read the PEM and provided their feedback through a survey. The survey was designed to collect and assess patient demographics, prior awareness of PGx, effectiveness of and satisfaction with the PEM, and interest in PGx testing. We found little prior awareness of PGx, with 66% of patients reporting no prior knowledge of PGx. Reading the PEM was associated with a statistically significant improvement in self- reported understanding of PGx for patients of all educational backgrounds. In addition, 94% of patients agreed the handout was a helpful educational tool. Finally, 79% of patients expressed potential interest in pursuing PGx testing. Patients reporting use of a prescription medication were more likely to express interest. The findings of this pilot study support that simple, written educational tools could increase patient understanding of PGx in the pre-test context. In addition, in our study, we found that patients had little prior awareness of, but much interest in, PGx testing
