Rationale – Children with congenital heart disease (CHD) have increased cardiovascular risk (CV) – Cardiometabolic risk factors are infrequently evaluated in children with CHD – Implementation gap between guidelines and actual practice Aims – Define prevalence of cardiometabolic risk factors in children with CHD within PEDSnet – Compare screening & management practices for cardiometabolic risk […]
Previous studies of administrative databases often misclassified up to 73% of strokes by just using diagnosis codes. This study will develop and validate a computable phenotype that can more accurately identify patients in our multi-institution database using clinical and lab values in addition to diagnosis codes, that can then be used in future studies on […]
Although the inherited neuromuscular disease spinal muscular atrophy is considered a rare disease, it has been on the forefront of genetic therapies research, with three therapies receiving FDA approval since 2016. Spinal muscular atrophy is an autosomal recessive loss of function disease that results progressive degeneration of the motor neurons which leads to continued progressive […]