Eileen King
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View article: Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (<scp>RDCRN</scp>)
Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (<span>RDCRN</span>) Open
The Rare Diseases Clinical Research Network (RDCRN) comprises research consortia and other partners focused on the study of rare diseases. Its goals include sharing de‐identified data with the scientific community and other stakeholders to…
View article: Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network
Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network Open
The Rare Diseases Clinical Research Network (RDCRN) works toward faster diagnosis and better treatment for people living with rare diseases, specifically by advancing clinical trial readiness. Inclusion of patient advocacy groups (PAGs) is…
View article: Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes Open
Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 ge…
View article: Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure Open
Individuals with congenital heart disease (CHD) have an increased risk of neurodevelopmental impairments. Given the hypothesized complexity linking genomics, atypical brain structure, cardiac diagnoses and their management, and neurodevelo…
View article: Anaesthetic management of a parturient with an unrepaired coronary arteriovenous fistula for caesarean section
Anaesthetic management of a parturient with an unrepaired coronary arteriovenous fistula for caesarean section Open
Summary Coronary arteriovenous fistulas are an abnormal conduit between a coronary artery and another cardiovascular lumen, without an intervening capillary bed. The reported prevalence is 0.002–0.3%. Physiologic consequences such as conge…
View article: Association of genetic and sulcal traits with executive function in congenital heart disease
Association of genetic and sulcal traits with executive function in congenital heart disease Open
Objective Persons with congenital heart disease (CHD) are at increased risk of neurodevelopmental disabilities, including impairments to executive function. Sulcal pattern features correlate with executive function in adolescents with sing…
View article: Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study Open
Background: Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can info…
View article: Seasonal variability in body mass index change among children enrolled in the Pediatric Obesity Weight Evaluation Registry: A step in the right direction
Seasonal variability in body mass index change among children enrolled in the Pediatric Obesity Weight Evaluation Registry: A step in the right direction Open
Summary Background Research has shown children disproportionately gain excess weight over the summer months (vs. school months), with stronger effects for children with obesity. However, the question has not been investigated among childre…
View article: Use, Durability, and Risks for Discontinuation of Initial and Subsequent Biologics in a Large Pediatric‐Onset IBD Cohort
Use, Durability, and Risks for Discontinuation of Initial and Subsequent Biologics in a Large Pediatric‐Onset IBD Cohort Open
Background: Biologic medications are recommended for treatment of moderately‐to‐severely active Crohn disease (CD) or ulcerative colitis (UC) in children. However, many patients require sequential biologic treatment because of nonresponse …
View article: Using multiple imputation of real-world data to estimate clinical remission in pediatric inflammatory bowel disease
Using multiple imputation of real-world data to estimate clinical remission in pediatric inflammatory bowel disease Open
Aim: To evaluate the performance of the multiple imputation (MI) method for estimating clinical effectiveness in pediatric Crohn's disease in the ImproveCareNow registry; to address the analytical challenge of missing data. Materials & met…
View article: Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease Open
Importance Neurodevelopmental disabilities are commonly associated with congenital heart disease (CHD), but medical and sociodemographic factors explain only one-third of the variance in outcomes. Objective To examine whether potentially d…
View article: Efficacy of supermarket and web-based interventions for improving dietary quality: a randomized, controlled trial
Efficacy of supermarket and web-based interventions for improving dietary quality: a randomized, controlled trial Open
Dietary interventions may best be delivered at supermarkets, which offer convenience, accessibility, full food inventories and, increasingly, in-store registered dietitians, online shopping and delivery services. In collaboration with a la…
View article: Supermarket and Web-based Intervention Targeting Nutrition (SuperWIN): A Randomized, Parallel Assignment, Active Control, Efficacy Trial
Supermarket and Web-based Intervention Targeting Nutrition (SuperWIN): A Randomized, Parallel Assignment, Active Control, Efficacy Trial Open
Dietary interventions may best be delivered at grocery stores, which offer convenience, accessibility, full food inventories, and increasingly, in-store registered dietitians, online shopping, and delivery services. In collaboration with a…
View article: Elevated blood pressure in youth in pediatric weight management programs in the Pediatric Obesity Weight Evaluation Registry (POWER)
Elevated blood pressure in youth in pediatric weight management programs in the Pediatric Obesity Weight Evaluation Registry (POWER) Open
Blood pressure (BP) assessment and management are important aspects of care for youth with obesity. This study evaluates data of youth with obesity seeking care at 35 pediatric weight management (PWM) programs enrolled in the Pediatric Obe…
View article: Prospective Endoscopic Activity Assessment for Eosinophilic Gastritis in a Multisite Cohort
Prospective Endoscopic Activity Assessment for Eosinophilic Gastritis in a Multisite Cohort Open
INTRODUCTION: Eosinophilic gastritis (EG) is a chronic inflammatory disease of the stomach characterized by eosinophil-predominant gastric mucosal inflammation and gastrointestinal symptoms. The aim of this study was to prospectively evalu…
View article: Development and Validation of Web-Based Tool to Predict Lamina Propria Fibrosis in Eosinophilic Esophagitis
Development and Validation of Web-Based Tool to Predict Lamina Propria Fibrosis in Eosinophilic Esophagitis Open
INTRODUCTION: Approximately half of esophageal biopsies from patients with eosinophilic esophagitis (EoE) contain inadequate lamina propria, making it impossible to determine the lamina propria fibrosis (LPF). This study aimed to develop a…
View article: Belatacept for Simultaneous Calcineurin Inhibitor and Chronic Corticosteroid Immunosuppression Avoidance
Belatacept for Simultaneous Calcineurin Inhibitor and Chronic Corticosteroid Immunosuppression Avoidance Open
Background and objectives Immunosuppressive therapy in kidney transplantation is associated with numerous toxicities. CD28-mediated T-cell costimulation blockade using belatacept may reduce long-term nephrotoxicity, compared with calcineur…
View article: Supplementary Material for: Acute Kidney Injury, Fluid Overload, and Renal Replacement Therapy Differ by Underlying Diagnosis in Neonatal Extracorporeal Support and Impact Mortality Disparately
Supplementary Material for: Acute Kidney Injury, Fluid Overload, and Renal Replacement Therapy Differ by Underlying Diagnosis in Neonatal Extracorporeal Support and Impact Mortality Disparately Open
Introduction: We aimed to characterize acute kidney injury (AKI), fluid overload (FO), and renal replacement therapy (RRT) utilization by diagnostic categories and examine associations between these complications and mortality by category.…
View article: Functional data analysis and prediction tools for continuous glucose-monitoring studies
Functional data analysis and prediction tools for continuous glucose-monitoring studies Open
Introduction: To identify phenotypes of type 1 diabetes based on glucose curves from continuous glucose-monitoring (CGM) using functional data (FD) analysis to account for longitudinal glucose patterns. We present a reliable prediction mod…
View article: Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing
Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing Open
The mechanisms underlying de novo insertion/deletion (indel) genesis, such as polymerase slippage, have been hypothesized but not well characterized in the human genome. We implemented two methodological improvements, which were leveraged …
View article: Implementing a Novel Quality Improvement-Based Approach to Data Quality Monitoring and Enhancement in a Multipurpose Clinical Registry
Implementing a Novel Quality Improvement-Based Approach to Data Quality Monitoring and Enhancement in a Multipurpose Clinical Registry Open
Objective: To implement a quality improvement based system to measure and improve data quality in an observational clinical registry to support a Learning Healthcare System.Data Source: ImproveCareNow Network registry, which as of Septembe…
View article: Feasibility and Acceptability of Metformin to Augment Low Milk Supply: A Pilot Randomized Controlled Trial
Feasibility and Acceptability of Metformin to Augment Low Milk Supply: A Pilot Randomized Controlled Trial Open
Background: Metformin improves insulin action, but feasibility in treating low milk supply is unknown. Research aim: To determine the feasibility of a metformin- versus -placebo definitive randomized clinical trial in women with low milk p…