Publications by authors named "Marybel Good"
Article Synopsis
- Turner syndrome (TS) involves the absence of a sex chromosome, and this study focuses on a specific mosaic form (45,X/47,XXX) that is observed in about 3% of TS cases.
- The research compared health outcomes and medical conditions among females with 45,X/47,XXX against those with nonmosaic 45,X and mosaic 45,X/46,XX, finding that 45,X/47,XXX had fewer neonatal issues and lower rates of some TS diagnoses.
- However, they were more prone to structural kidney problems and congenital heart disease while also having less chance of spontaneous menarche, indicating distinct health profiles associated with their chromosomal patterns.
Turner syndrome (TS), caused by complete or partial loss of the second sex chromosome, is associated with complex medical manifestations. The TS community identifies anxiety as a major contributor to reduced quality of life. The study aimed to improve understanding of anxiety symptomatology, diagnosis, and care in individuals with TS.
View Article and Find Full Text PDFInspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry is a national, multicenter registry for individuals with Turner syndrome (TS) designed to collect and store validated longitudinal clinical data from a diverse cohort of patients with TS. Herein, we describe the rationale, design, and approach used to develop the InsighTS registry, as well as the demographics of the initial participants to illustrate the registry's diversity and future utility. Multiple stakeholder groups have been involved from project conceptualization through dissemination, ensuring the registry serves the priorities of the TS community.
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