Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders.

Context: SOX11 variants cause Coffin-Siris Syndrome (CSS), characterized by developmental delay, hypogonadotropic hypogonadism (HH), skeletal and facial defects.

Objective: To examine the contribution of SOX11 variants to the pathogenesis of Idiopathic Hypogonadotropic Hypogonadism (IHH), a disorder caused by hypothalamic GnRH deficiency.

Setting: The Reproductive Endocrine Unit and the Pediatric Endocrinology Division, Massachusetts General Hospital.

PM exposure disparities persist despite strict vehicle emissions controls in California.

As policymakers increasingly focus on environmental justice, a key question is whether emissions reductions aimed at addressing air quality or climate change can also ameliorate persistent air pollution exposure disparities. We examine evidence from California's aggressive vehicle emissions control policy from 2000 to 2019. We find a 65% reduction in modeled statewide average exposure to PM from on-road vehicles, yet for people of color and overburdened community residents, relative exposure disparities increased.

Using Structural Competencies for Faculty and Students to Integrate Principles of Social Justice and Health Equity Into a Doctor of Physical Therapy Program.

Background And Purpose: Integrating principles of social justice and health equity (SJHE) into Doctor of Physical Therapy (DPT) education may be one way to confront the root causes of health inequity. The purpose of this method/model presentation is to highlight structural competencies for faculty and students to integrate SJHE into a 3-year DPT program and a professional development program designed to provide core and clinical faculty with the tools to engage in critical discussions with students and support their development as agents of change.

Method/model Description And Evaluation: This presentation highlights how SJHE structural competencies can be integrated into existing course content (as opposed to presented as a standalone course).

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With Mutations.

Context: Activation of fibroblast growth factor receptor 1 (FGFR1) signaling improves the metabolic health of animals and humans, while inactivation leads to diabetes in mice. Direct human genetic evidence for the role of FGFR1 signaling in human metabolic health has not been fully established.

Objective: We hypothesized that individuals with naturally occurring variants ("experiments of nature") will display glucose dysregulation.