Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.

Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.

FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.

FOXG1 is a critical transcription factor in human brain where loss-of-function mutations cause a severe neurodevelopmental disorder, while increased FOXG1 expression is frequently observed in glioblastoma. FOXG1 is an inhibitor of cell patterning and an activator of cell proliferation in chordate model organisms but different mechanisms have been proposed as to how this occurs. To identify genomic targets of FOXG1 in human neural progenitor cells (NPCs), we engineered a cleavable reporter construct in endogenous FOXG1 and performed chromatin immunoprecipitation (ChIP) sequencing.

The impact of an emergency department peer navigator (EDPN) program in improving clinical outcomes and healthcare utilization in an urban setting.

Introduction: Emergency Department Peer Navigator Programs (EDPN) have been shown to increase the prescribing of medications for opioid use disorder (MOUD) and improve linkage to addiction care. However, what is not known is whether it can improve overall clinical outcomes and healthcare utilization in patients with OUD.

Methods: This is a single-center, IRB approved, retrospective cohort study using patients with OUD enrolled in our peer navigator program from 11/7/19 to 2/16/21.

A Case of Disseminated Herpes Zoster With Polyneuropathy Following the Third Dose of the Pfizer-BioNTech Vaccine.

SARS-CoV-2 pandemic resulted in the fast development of new vaccines, which helped contain the pandemic, but some adverse events started to rise. Recently, post-administration of mRNA-based vaccines, varicella-zoster virus (VZV) reactivation was reported. We report a case of disseminated herpes zoster with polyneuropathy and cerebrospinal fluid (CSF) findings following the Pfizer-BioNTechvaccine.

Identification of a novel opioid, -piperidinyl etonitazene (etonitazepipne), in patients with suspected opioid overdose.

Background: Novel opioids in the illicit drug supply, such as the "nitazene" group of synthetic opioids, present an ongoing public health problem due to high potency and respiratory depressant effects. We describe three patients in whom -piperidinyl etonitazene, a compound not previously reported in human exposure, was detected after suspected opioid overdose. Other substances that these patients tested for included fentanyl, cocaine, levamisole, phenacetin, benzoylecgonine, -fluorofentanyl, presumptive heroin (tested as 6-monoacetylmorphine (6-MAM), morphine, and codeine), and tramadol.