Steven C. Hoffman
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Functional Profiling of <i>KCNE1</i> Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2 Open
BACKGROUND: Congenital long-QT syndrome is most often associated with pathogenic variants in KCNQ1 encoding the pore-forming voltage-gated potassium channel subunit (KCNQ1) of the slow delayed rectifier current ( I Ks ). Generation of I Ks…
View article: Functional profiling of <i>KCNE1</i> variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2
Functional profiling of <i>KCNE1</i> variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2 Open
Congenital long-QT syndrome (LQTS) is most often associated with pathogenic variants in KCNQ1 encoding the pore-forming voltage-gated potassium channel subunit of the slow delayed rectifier current ( I Ks ). Generation of I Ks requires ass…
View article: Neurological applications of belzutifan in von Hippel-Lindau disease
Neurological applications of belzutifan in von Hippel-Lindau disease Open
Von Hippel-Lindau (VHL) disease is a tumor predisposition syndrome caused by mutations in the VHL gene that presents with visceral neoplasms and growths, including clear cell renal cell carcinoma, and central nervous system manifestations,…
View article: Patient Income Does Not Predict Disability or Mortality in Hospitalized COVID-19 Patients in a Large Health Care System in the Chicago Metropolitan Area
Patient Income Does Not Predict Disability or Mortality in Hospitalized COVID-19 Patients in a Large Health Care System in the Chicago Metropolitan Area Open
Race, income, and their role in COVID-19 infection in the community have been extensively reported, but their impact on outcomes in hospitalized patients is less well defined. We retrospectively analyzed the first 509 COVID-19 patients in …
View article: Incidence of Catheter-Associated Right Atrial Thrombus Detected by Transthoracic Echocardiogram
Incidence of Catheter-Associated Right Atrial Thrombus Detected by Transthoracic Echocardiogram Open
Introduction: The development of right atrial (RA) thrombus (RAT) is a known complication of central venous catheter insertion (CVC). Deeper insertion of CVC within the RA may increase the risk for RAT development versus those placed at th…
View article: Frequent neurologic manifestations and encephalopathy‐associated morbidity in Covid‐19 patients
Frequent neurologic manifestations and encephalopathy‐associated morbidity in Covid‐19 patients Open
Objective Covid‐19 can involve multiple organs including the nervous system. We sought to characterize the neurologic manifestations, their risk factors, and associated outcomes in hospitalized patients with Covid‐19. Methods We examined n…
View article: Spinal neurovascular complications with anterior thoracolumbar spine surgery: a systematic review and review of thoracolumbar vascular anatomy
Spinal neurovascular complications with anterior thoracolumbar spine surgery: a systematic review and review of thoracolumbar vascular anatomy Open
OBJECTIVE Spinal cord infarction due to interruption of the spinal vascular supply during anterior thoracolumbar surgery is a rare but devastating complication. Here, the authors sought to summarize the data on this complication in terms o…
Integration of TGF-β-induced Smad signaling in the insulin-induced transcriptional response in endothelial cells Open
Insulin signaling governs many processes including glucose homeostasis and metabolism, and is therapeutically used to treat hyperglycemia in diabetes. We demonstrated that insulin-induced Akt activation enhances the sensitivity to TGF-β by…
Enhanced TGF-β Signaling Contributes to the Insulin-Induced Angiogenic Responses of Endothelial Cells Open
Angiogenesis, the development of new blood vessels, is a key process in disease. We reported that insulin promotes translocation of transforming growth factor β (TGF-β) receptors to the plasma membrane of epithelial and fibroblast cells, t…