Publications by authors named "E A Goldmuntz"
Article Synopsis
- Over 300,000 children in the U.S. have pediatric rheumatic diseases (PRDs), with juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (cSLE), and juvenile dermatomyositis (JDM) being the most prevalent.
- The first biologic therapy for JIA, Etanercept, was approved in 1999, followed by other similar treatments that have significantly improved disease outcomes, though options for cSLE and JDM remain limited.
- The review explores the challenges in treating various PRDs, highlights advancements in treatment, and discusses current regulatory conditions affecting bDMARD and tsDMARD approvals.
Article Synopsis
- Individuals with congenital heart disease (CHD) face a heightened risk for neurodevelopmental impairments, and understanding this relationship could benefit from data-driven approaches.
- Utilizing data from the Pediatric Cardiac Genomics Consortium, researchers analyzed brain structure using MRI to identify subgroups of individuals with CHD, focusing on variations related to cardiac lesions and language ability.
- The study also examined white matter connectivity through diffusion MRI, revealing that rare genetic variants significantly influence visual-motor functions, highlighting the intricate links between cardiac conditions, genomic differences, and brain development in CHD patients.
Article Synopsis
- Genome sequencing has improved our understanding of genetic factors in complex disorders but is still underexplored for predicting clinical outcomes, particularly after surgery for congenital heart defects (CHD).
- Using AI, researchers analyzed data from 2,253 CHD patients, linking harmful genotypes in specific genes to a higher risk of severe post-operative complications.
- The findings suggest that both the presence and absence of damaging genotypes can significantly inform predictions about patient outcomes following congenital cardiac surgery.
Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies.
View Article and Find Full Text PDFObjective: In the randomized Scleroderma: Cyclophosphamide or Transplantation (SCOT) trial, myeloablation, followed by hematopoietic stem cell transplantation (HSCT), led to the normalization of systemic sclerosis (SSc) peripheral blood cell (PBC) gene expression signature at the 26-month visit. Herein, we examined long-term molecular changes ensuing 54 months after randomization for individuals receiving an HSCT or 12 months of intravenous cyclophosphamide (CYC).
Methods: Global PBC transcript studies were performed in study participants at pretreatment baseline and at 38 months and 54 months after randomization, as well as in healthy controls using Illumina HT-12 arrays.