Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g.

Cardiometabolic Disease Staging and Major Adverse Cardiovascular Event Prediction in 2 Prospective Cohorts.

Background: Cardiometabolic risk prediction models that incorporate metabolic syndrome traits to predict cardiovascular outcomes may help identify high-risk populations early in the progression of cardiometabolic disease.

Objectives: The purpose of this study was to examine whether a modified cardiometabolic disease staging (CMDS) system, a validated diabetes prediction model, predicts major adverse cardiovascular events (MACE).

Methods: We developed a predictive model using data accessible in clinical practice [fasting glucose, blood pressure, body mass index, cholesterol, triglycerides, smoking status, diabetes status, hypertension medication use] from the REGARDS (REasons for Geographic And Racial Differences in Stroke) study to predict MACE [cardiovascular death, nonfatal myocardial infarction, and/or nonfatal stroke].

Financial hardship and neighborhood socioeconomic disadvantage in long-term childhood cancer survivors.

Background: Long-term survivors of childhood cancer face elevated risk for financial hardship. We evaluate whether childhood cancer survivors live in areas of greater deprivation and the association with self-reported financial hardships.

Methods: We performed a cross-sectional analysis of data from the Childhood Cancer Survivor Study between 1970 and 1999 and self-reported financial information from 2017 to 2019.

Associations between mitochondrial copy number, exercise capacity, physiologic cost of walking, and cardiac strain in young adult survivors of childhood cancer.

Purpose: Childhood cancer survivors are at risk for cardiac dysfunction and impaired physical performance, though underlying cellular mechanisms are not well studied. In this cross-sectional study, we examined the association between peripheral blood mitochondrial DNA copy number (mtDNA-CN, a proxy for mitochondrial function) and markers of performance impairment and cardiac dysfunction.

Methods: Whole-genome sequencing, validated by quantitative polymerase chain reaction, was used to estimate mtDNA-CN in 1720 adult survivors of childhood cancer (48.

Severe Sepsis During Treatment for Childhood Leukemia and Sequelae Among Adult Survivors.

Importance: Children undergoing treatment for leukemia are at increased risk of severe sepsis, a dysregulated immune response to infection leading to acute organ dysfunction. As cancer survivors, they face a high burden of long-term adverse effects. The association between sepsis during anticancer therapy and long-term organ dysfunction in adult survivors of childhood cancer has not been examined.

An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.

Maternal 15q11.2-13.1 duplication syndrome, or Dup15q syndrome (Dup15q), is a rare neurodevelopmental disorder affecting as many as 1 in 5000 to 1 in 20,000 children worldwide.

Analyzing Multiple Social Determinants of Health Using Different Clustering Methods.

Social determinants of health (SDoH) have become an increasingly important area to acknowledge and address in healthcare; however, dealing with these measures in outcomes research can be challenging due to the inherent collinearity of these factors. Here we discuss our experience utilizing three statistical methods-exploratory factor analysis (FA), hierarchical clustering, and latent class analysis (LCA)-to analyze data collected using an electronic medical record social risk screener called Protocol for Responding to and Assessing Patient Assets, Risks, and Experience (PRAPARE). The PRAPARE tool is a standardized instrument designed to collect patient-reported data on SDoH factors, such as income, education, housing, and access to care.

Age and sex differences in the association between neighborhood socioeconomic environment and incident diabetes: Results from the diabetes location, environmental attributes and disparities (LEAD) network.

Objective: Worse neighborhood socioeconomic environment (NSEE) may contribute to an increased risk of type 2 diabetes (T2D). We examined whether the relationship between NSEE and T2D differs by sex and age in three study populations.

Research Design And Methods: We conducted a harmonized analysis using data from three independent longitudinal study samples in the US: 1) the Veteran Administration Diabetes Risk (VADR) cohort, 2) the REasons for Geographic and Racial Differences in Stroke (REGARDS) cohort, and 3) a case-control study of Geisinger electronic health records in Pennsylvania.

Patient-level factors associated with hemoglobin A1C testing in Alabama Medicaid beneficiaries with diabetes.

Aim: We evaluated patient-level factors associated with receipt of hemoglobin A1c (HbA1c) testing among Alabama Medicaid beneficiaries with type 2 diabetes.

Methods: We conducted a retrospective analysis of person-year observations from Medicaid claims data from 2011 to 2020. Adults aged 19-64 years with type 2 diabetes and continuous enrollment in Medicaid for study year and year prior were included.

Measuring continuity of care for diabetes: which visits to include?

Objectives: Continuity of care measures are widely used to evaluate the quality of health care delivery, but which visits are included vary across studies. Our objective was to determine how the provider specialties included affect continuity values, year-to-year stability, and association with emergency department (ED) visits.

Study Design: Retrospective study of Alabama Medicaid administrative data.

Trends and Predictors of Glycemic Control Among Adults With Type 2 Diabetes Covered by Alabama Medicaid, 2011-2019.

Introduction: Despite advances in diabetes management, only one-quarter of people with diabetes in the US achieve optimal targets for glycated hemoglobin A (HbA), blood pressure, and cholesterol. We sought to evaluate temporal trends and predictors of achieving glycemic control among adults with type 2 diabetes covered by Alabama Medicaid from 2011 through 2019.

Methods: We completed a retrospective analysis of Medicaid claims and laboratory data, using person-years as the unit of analysis.

Cardiovascular Risk Factor Disparities in Adult Survivors of Childhood Cancer Compared With the General Population.

Background: It is unknown whether a history of childhood cancer modifies the established disparities in cardiovascular risk factors (CVRFs) observed in the general population.

Objectives: We sought to determine if disparities in CVRFs by race/ethnicity are similar among childhood cancer survivors compared with the general population.

Methods: The Childhood Cancer Survivor Study (CCSS) is a retrospective cohort with a longitudinal follow-up of 24,084 5-year survivors diagnosed between 1970 and 1999.

Real-world integration of the protocol for responding to and assessing patients' assets, risks, and experiences tool to assess social determinants of health in the electronic medical record at an academic medical center.

Objective: To describe the real-world deployment of a tool, the Protocol for Responding to and Assessing Patients' Assets, Risks, and Experiences (PRAPARE), to assess social determinants of health (SDoH) in an electronic medical record (EMR).

Methods: We employed the collection of the PRAPARE tool in the EMR of a large academic health system in the ambulatory clinic and emergency department setting. After integration, we evaluated SDoH prevalence, levels of missingness, and data anomalies to inform ongoing collection.

The Association of Neighborhood Characteristics and Frailty in Childhood Cancer Survivors: A Report from the St. Jude Lifetime Cohort Study.

Background: Childhood cancer survivors experience reduced physiologic reserve, or frailty, earlier and more frequently than peers. In other populations, frailty is impacted by one's neighborhood. This study's purpose was to evaluate associations between neighborhood characteristics and frailty in childhood cancer survivors.

Perspective: Acknowledging a Hierarchy of Social Needs in Diabetes Clinical Care and Prevention.

The evidence of suboptimal social determinants of health (SDoH) on poor health outcomes has resulted in widespread calls for research to identify ways to measure and address social needs to improve health outcomes and reduce disparities. While assessing SDoH has become increasingly important in diabetes care and prevention research, little guidance has been offered on how to address suboptimal determinants in diabetes-related clinical care, prevention efforts, medical education and research. Not surprisingly, many patients experience multiple social needs - some that are more urgent (housing) than others (transportation/resources), therefore the order in which these needs are addressed needs to be considered in the context of diabetes care/outcomes.

Diabetes distress and self-reported health in a sample of Alabama Medicaid-covered adults before and during the COVID-19 pandemic.

Unlabelled: Temporary closures of outpatient health facilities and transitions to virtual care during the COVID-19 pandemic interrupted the care of millions of patients with diabetes contributing to worsening psychosocial factors and enhanced difficulty in managing type 2 diabetes mellitus. We explored associations between COVID time period and self-reported diabetes distress on self-reported health among a sample of Alabama Medicaid-covered adults with diabetes pre-COVID (2017-2019) and during-COVID (2020-2021).

Method: In this cross-sectional study, we surveyed a population-based sample of adults with type 2 diabetes covered by the Alabama Medicaid Agency.

Race Versus Social Determinants of Health in COVID-19 Hospitalization Prediction.

Introduction: Including race as a biological construct in risk prediction models may guide clinical decisions in ways that cause harm and widen racial disparities. This study reports on using race versus social determinants of health (SDoH) in predicting the associations between cardiometabolic disease severity (assessed using cardiometabolic disease staging) and COVID-19 hospitalization.

Methods: Electronic medical record data on patients with a positive COVID-19 polymerase chain reaction test in 2020 and a previous encounter in the electronic medical record where cardiometabolic disease staging clinical data (BMI, blood glucose, blood pressure, high-density lipoprotein cholesterol, and triglycerides) were available from 2017 to 2020, were analyzed in 2021.

Associations between cardiometabolic disease severity, social determinants of health (SDoH), and poor COVID-19 outcomes.

Objective: This study aimed to determine the ability of retrospective cardiometabolic disease staging (CMDS) and social determinants of health (SDoH) to predict COVID-19 outcomes.

Methods: Individual and neighborhood SDoH and CMDS clinical parameters (BMI, glucose, blood pressure, high-density lipoprotein, triglycerides), collected up to 3 years prior to a positive COVID-19 test, were extracted from the electronic medical record. Bayesian logistic regression was used to model CMDS and SDoH to predict subsequent hospitalization, intensive care unit (ICU) admission, and mortality, and whether adding SDoH to the CMDS model improved prediction was investigated.

Assessing Hispanic/Latino and Non-Hispanic White Social Determinants of Obesity Among a Community Sample of Residents in the Rural Southeast US.

Employing an ecological approach, we sought to identify social determinants of obesity among Hispanics/Latinos and non-Hispanic whites living in the Southeast US. Data on social determinants of obesity (individual, family, community and cultural/contextual) were collected from 217 participants [106 Hispanics/Latinos; 111 non-Hispanic whites]; height and weight  were objectively measured. We compared prevalence of overweight and obese between ethnic groups and BMI values within each group by social determinants.

Neighborhood Socioeconomic Environment and Risk of Type 2 Diabetes: Associations and Mediation Through Food Environment Pathways in Three Independent Study Samples.

Objective: We examined whether relative availability of fast-food restaurants and supermarkets mediates the association between worse neighborhood socioeconomic conditions and risk of developing type 2 diabetes (T2D).

Research Design And Methods: As part of the Diabetes Location, Environmental Attributes, and Disparities Network, three academic institutions used harmonized environmental data sources and analytic methods in three distinct study samples: 1) the Veterans Administration Diabetes Risk (VADR) cohort, a national administrative cohort of 4.1 million diabetes-free veterans developed using electronic health records (EHRs); 2) Reasons for Geographic and Racial Differences in Stroke (REGARDS), a longitudinal, epidemiologic cohort with Stroke Belt region oversampling (N = 11,208); and 3) Geisinger/Johns Hopkins University (G/JHU), an EHR-based, nested case-control study of 15,888 patients with new-onset T2D and of matched control participants in Pennsylvania.

A randomized double-blind placebo-controlled trial of the effectiveness of melatonin on neurocognition and sleep in survivors of childhood cancer.

Background: Adult survivors of childhood cancer are at risk of developing sleep and neurocognitive problems, yet few efficacious interventions exist targeting these prevalent late effects. Melatonin has known sleep-promoting effects; however, it has not been well studied among childhood cancer survivors.

Method: Survivors (n = 580; mean age = 33.

Concordance between self-reported sleep and actigraphy-assessed sleep in adult survivors of childhood cancer: the impact of psychological and neurocognitive late effects.

Purpose: To examine self-reported (30-day) sleep versus nightly actigraphy-assessed sleep concordance in long-term survivors of childhood cancer.

Methods: Four hundred seventy-seven participants enrolled in the St. Jude Lifetime Cohort (53.

Cardiac remodeling after anthracycline and radiotherapy exposure in adult survivors of childhood cancer: A report from the St Jude Lifetime Cohort Study.

Background: Limited data exist regarding left ventricular remodeling patterns observed in adult survivors of childhood cancer after therapy.

Methods: Among 1190 adult survivors diagnosed with childhood cancer (median age at diagnosis, 9 years [interquartile range (IQR), 3.8-14.