Publications by authors named "H Seeley"
Article Synopsis
- - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
- - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
- - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
The safety and efficacy of radiofrequency ablation in benign pediatric thyroid disease in the US: An initial case series.
Laryngoscope Investig Otolaryngol
February 2024
Objective: To evaluate the efficacy and safety of radiofrequency ablation (RFA) for benign nonfunctional thyroid nodules or functional lingual thyroid gland in a pediatric population.
Methods: Four pediatric patients (four female; mean age 13.50 ± 4.
Novel use of vandetanib in a child with aggressive MTC with prolonged response to treatment.
View Article and Find Full Text PDFDevices for near-infrared light stimulation of autofluorescence (NIRAF) allow for intraoperative identification of parathyroid glands with high sensitivity in adults. However, their performance in the pediatric population is unknown. In this case series with chart review at a tertiary academic children's hospital, we investigated pediatric patients undergoing thyroid surgery and concurrent use of a probe-based NIRAF device.
View Article and Find Full Text PDFSociodemographic Disparities in the Diagnostic Management of Pediatric Thyroid Nodules.
JAMA Otolaryngol Head Neck Surg
October 2022
Importance: Thyroid cancer is the most common pediatric endocrine malignant neoplasm. Disparities in the workup of thyroid nodules may be significantly associated with thyroid cancer outcomes.
Objective: To determine the association of sociodemographic factors with the odds of receiving a biopsy, timeliness of the procedure, and risk of nodule malignancy.