RFX6 regulates human intestinal patterning and function upstream of PDX1.

The gastrointestinal (GI) tract is complex and consists of multiple organs with unique functions. Rare gene variants can cause congenital malformations of the human GI tract, although the molecular basis of these has been poorly studied. We identified a patient with compound-heterozygous variants in RFX6 presenting with duodenal malrotation and atresia, implicating RFX6 in development of the proximal intestine.

Increasing Social Determinants of Health Screening Rates Among Six Endocrinology Centers Across the United States: Results From the T1D Exchange Quality Improvement Collaborative.

Social determinants of health (SDOH) are strongly associated with outcomes for people with type 1 diabetes. Six centers in the T1D Exchange Quality Improvement Collaborative applied quality improvement principles to design iterative Plan-Do-Study-Act cycles to develop and expand interventions to improve SDOH screening rates. The interventions tested include staff training, a social risk index, an electronic health record patient-facing portal, partnerships with community organizations, and referrals to community resources.

The Design of the Electronic Health Record in Type 1 Diabetes Centers: Implications for Metrics and Data Availability for a Quality Collaborative.

Background: Systematic and comprehensive data acquisition from the electronic health record (EHR) is critical to the quality of data used to improve patient care. We described EHR tools, workflows, and data elements that contribute to core quality metrics in the Type 1 Diabetes Exchange Quality Improvement Collaborative (T1DX-QI).

Method: We conducted interviews with quality improvement (QI) representatives at 13 T1DX-QI centers about their EHR tools, clinic workflows, and data elements.

Associations of prenatal and postnatal exposure to perfluoroalkyl substances with pubertal development and reproductive hormones in females and males: The HOME study.

Background: Prenatal and childhood exposure to per- and polyfluoroalkyl substances (PFAS) may be associated with lower reproductive hormones and later puberty, but epidemiological studies evaluating these associations are scarce.

Objectives: We examined associations of PFAS concentrations assessed from pregnancy to adolescence with pubertal development and reproductive hormones at age 12 years.

Methods: We studied 200 mother-child pairs from the HOME Study in Cincinnati, OH (enrolled: 2003-2006).

Factors Associated With Achieving Target A1C in Children and Adolescents With Type 1 Diabetes: Findings From the T1D Exchange Quality Improvement Collaborative.

The optimal care of type 1 diabetes involves consistent glycemic management to avoid short- and long-term complications. However, despite advancements in diabetes technology and standards, achieving adequate glycemic levels in children and adolescents remains a challenge. This study aimed to identify factors associated with achieving the recommended A1C target of <7% from the United States-based multicenter T1D Exchange Quality Improvement Collaborative cohort, including 25,383 children and adolescents living with type 1 diabetes.

Implicit Racial-Ethnic and Insurance-Mediated Bias to Recommending Diabetes Technology: Insights from T1D Exchange Multicenter Pediatric and Adult Diabetes Provider Cohort.

Despite documented benefits of diabetes technology in managing type 1 diabetes, inequities persist in the use of these devices. Provider bias may be a driver of inequities, but the evidence is limited. Therefore, we aimed to examine the role of race/ethnicity and insurance-mediated provider implicit bias in recommending diabetes technology.

Socioeconomic and Racial Disparities in Diabetic Ketoacidosis Admissions in Youth With Type 1 Diabetes.

Objective: We sought to determine whether census tract poverty, race, and insurance status were associated with the likelihood and severity of diabetic ketoacidosis (DKA) hospitalization among youth with type 1 diabetes (T1D).

Methods: We conducted a retrospective population-based cohort study using Cincinnati Children's Hospital electronic medical record (EMR) data from January 1, 2011, to December 31, 2017, for T1D patients ≤18 years old. The primary outcome was admission for DKA.

Inequities in Health Outcomes in Children and Adults With Type 1 Diabetes: Data From the T1D Exchange Quality Improvement Collaborative.

Health care inequities among racial and ethnic groups remain prevalent. For people with type 1 diabetes who require increased medical access and care, disparities are seen in access to care and health outcomes. This article reports on a study by the T1D Exchange Quality Improvement Collaborative evaluating differences in A1C, diabetic ketoacidosis (DKA), severe hypoglycemia, and technology use among racial and ethnic groups.

Multi-Clinic Quality Improvement Initiative Increases Continuous Glucose Monitoring Use Among Adolescents and Young Adults With Type 1 Diabetes.

Continuous glucose monitoring (CGM) use is associated with improved A1C outcomes and quality of life in adolescents and young adults with diabetes; however, CGM uptake is low. This article reports on a quality improvement (QI) initiative of the T1D Exchange Quality Improvement Collaborative to increase CGM use among patients in this age-group. Ten centers participated in developing a key driver diagram and center-specific interventions that resulted in an increase in CGM use from 34 to 55% in adolescents and young adults over 19-22 months.

Seven practices for pursuing equity through learning health systems: Notes from the field.

Introduction: Despite learning health systems' focus on improvement in health outcomes, inequities in outcomes remain deep and persistent. To achieve and sustain health equity, it is critical that learning health systems (LHS) adapt and function in ways that directly prioritize equity.

Methods: We present guidance, including seven core practices, borne from theory, evidence, and experience, for actors within LHS pursuing equity.

Inequities in Diabetic Ketoacidosis Among Patients With Type 1 Diabetes and COVID-19: Data From 52 US Clinical Centers.

Objective: We examined whether diabetic ketoacidosis (DKA), a serious complication of type 1 diabetes (T1D) was more prevalent among Non-Hispanic (NH) Black and Hispanic patients with T1D and laboratory-confirmed coronavirus disease 2019 (COVID-19) compared with NH Whites.

Method: This is a cross-sectional study of patients with T1D and laboratory-confirmed COVID-19 from 52 clinical sites in the United States, data were collected from April to August 2020. We examined the distribution of patient factors and DKA events across NH White, NH Black, and Hispanic race/ethnicity groups.

Hypothyroidism and Iodine Deficiency in Children on Chronic Parenteral Nutrition.

Background And Objectives: Iodine is an essential trace element for maintenance of normal thyroid function. Normal thyroid function is a prerequisite for neurocognitive development and growth in children. In the United States, iodine is not routinely added as a trace element in parenteral nutrition (PN).

Severe Hypothyroidism From Iodine Deficiency Associated With Parenteral Nutrition.

Parenteral nutrition is crucial for supply of nutrients in children who cannot tolerate a full enteral diet. In the United States, it is not standard of care to give iodine to children dependent on parenteral nutrition, hence iodine is not routinely included in the micronutrient package. Herein, we present a case of a boy with hypothyroidism secondary to iodine deficiency after prolonged exclusive use of parenteral nutrition.

Improving depression screening for adolescents with type 1 diabetes.

Objective: Depression is common among adolescents, but rates increase significantly in the presence of chronic health conditions. Outpatient screening for depression is recommended but rarely formally conducted due to barriers of implementation.

Methods: To provide a model for depression screening of youth with chronic health conditions, a standard process using a self-administered electronic version of the Children's Depression Inventory (CDI) was developed.