Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Type 1 Diabetes Mellitus and Thromboembolism in Pregnancy.

Objective The impact of type 1 DM (T1DM) on thromboembolism in pregnancy is uncertain. We hypothesized that T1DM is associated with higher rates of thrombotic events during pregnancy and the postpartum period. Study Design This is a retrospective cohort study utilizing the National Inpatient Sample database from HCUP/AHRQ for 2017-2019.

In Vitro Assay to Examine Osteoclast Resorptive Activity Under Estrogen Withdrawal.

The bone is a highly dynamic organ that undergoes continuous remodeling through an intricate balance of bone formation and degradation. Hyperactivation of the bone-degrading cells, the osteoclasts (OCs), occurs in disease conditions and hormonal changes in females, resulting in osteoporosis, a disease characterized by altered microarchitecture of the bone tissue, and increased bone fragility. Thus, building robust assays to quantify OC resorptive activity to examine the molecular mechanisms underlying bone degradation is critical.

Association between peripartum cardiomyopathy and mood disorders in a large, national U.S. cohort.

Objective: To examine the association between mood disorders in pregnancy and postpartum and peripartum cardiomyopathy (PPCM).

Methods: Retrospective cohort study utilizing the National Inpatient Sample from the Healthcare Cost and Utilization Project, Agency for Healthcare Research and Quality of pregnant and postpartum patients from 2017-2019. Patients were separated into two groups based on ICD-10 coding for presence or absence of mood disorder (depression, bipolar depression, anxiety, or other mood diagnosis).

Activating waitlists: Identifying barriers and facilitators to pain self-management while waiting.

Objectives: Waitlists for pain management services are often extensive, risking psychological and physical decline and patient non-engagement in treatment once accessed. Currently, for outpatient pain management, no standardised waiting list interventions exist, resulting in passive waiting. To arrest prospective wait-related decline(s), this study aimed to identify the barriers and facilitators to pain self-management while waiting, forming the foundation for a waitlist intervention development.