Closing Gaps or Holding Steady? The Affordable Care Act, Medicaid Expansion, & Racial Disparities in Coverage, 2010-2021.

Context: The Affordable Care Act's (ACA) Medicaid expansion produced major gains in coverage. However, findings on racial and ethnic disparities are mixed and may depend on how disparities are measured. This study examines both absolute and relative changes in uninsurance from 2010-2021 by race and ethnicity, stratified by Medicaid expansion status.

Do Publicly Funded Neighborhood Investments Impact Individual-Level Health-Related Outcomes? A Longitudinal Study of Two Neighborhoods in Pittsburgh, PA from 2011 to 2018.

Research examining the relationship between a neighborhood's built-environment and resident health or health-related outcomes has largely either focused on static characteristics using a cross-sectional research design or focuses on the neighborhood in its entirety. Such an approach makes it difficult to understand how specific dynamic neighborhood characteristics are associated with individual well-being. In this analysis, we use longitudinal data from the Pittsburgh Research on Neighborhood Change and Health (PHRESH) studies to assess the relationship between publicly funded neighborhood investments occurring across seven years (2011-2018) on five health-related outcomes: food insecurity, stress, perceived neighborhood safety, neighborhood satisfaction, and dietary quality.

Survey-Reported Coverage in 2019-2022 and Implications for Unwinding Medicaid Continuous Eligibility.

Importance: Policy changes and the COVID-19 pandemic affected health coverage rates, and the "unwinding" of Medicaid's continuous coverage provision in 2023 and 2024 may cause widespread coverage loss. Recent coverage patterns in national survey and administrative data can inform these issues.

Objective: To assess national and state changes in survey-based Medicaid, private insurance, and uninsured rates between 2019 and 2022, as well as how these changes compare with administrative Medicaid enrollment totals.

Evidence-based review of genomic aberrations in diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS): Report from the cancer genomics consortium lymphoma working group.

Diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of non-Hodgkin lymphoma (NHL). The 2016 World Health Organization (WHO) classification defined DLBCL, NOS and its subtypes based on clinical findings, morphology, immunophenotype, and genetics. However, even within the WHO subtypes, it is clear that additional clinical and genetic heterogeneity exists.

Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes a predisposition to develop tumors along the peripheral nervous system. The NF1 gene, located at 17q11.2, has the highest mutation rate among known human genes and about half of NF1 patients have de novo pathogenic variants.

Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.

Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by toxic gain of function of the androgen receptor (AR). Previously, we found that co-regulator binding through the activation function-2 (AF2) domain of AR is essential for pathogenesis, suggesting that AF2 may be a potential drug target for selective modulation of toxic AR activity. We screened previously identified AF2 modulators for their ability to rescue toxicity in a Drosophila model of SBMA.

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

The RNA-binding protein TDP-43 regulates RNA metabolism at multiple levels, including transcription, RNA splicing, and mRNA stability. TDP-43 is a major component of the cytoplasmic inclusions characteristic of amyotrophic lateral sclerosis and some types of frontotemporal lobar degeneration. The importance of TDP-43 in disease is underscored by the fact that dominant missense mutations are sufficient to cause disease, although the role of TDP-43 in pathogenesis is unknown.

VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations.

Mutations in VCP cause multisystem degeneration impacting the nervous system, muscle, and/or bone. Patients may present with ALS, Parkinsonism, frontotemporal dementia, myopathy, Paget's disease, or a combination of these. The disease mechanism is unknown.

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.

Amyotrophic lateral sclerosis (ALS) is an uncommon neurodegenerative disease caused by degeneration of upper and lower motor neurons. Several genes, including SOD1, TDP-43, FUS, Ubiquilin 2, C9orf72 and Profilin 1, have been linked with the sporadic and familiar forms of ALS. FUS is a DNA/RNA-binding protein (RBP) that forms cytoplasmic inclusions in ALS and frontotemporal lobular degeneration (FTLD) patients' brains and spinal cords.

Relay of retrograde synaptogenic signals through axonal transport of BMP receptors.

Neuronal function depends on the retrograde relay of growth and survival signals from the synaptic terminal, where the neuron interacts with its targets, to the nucleus, where gene transcription is regulated. Activation of the Bone Morphogenetic Protein (BMP) pathway at the Drosophila larval neuromuscular junction results in nuclear accumulation of the phosphorylated form of the transcription factor Mad in the motoneuron nucleus. This in turn regulates transcription of genes that control synaptic growth.