Publications by authors named "Lily Huang"

X-linked myopathy with excessive autophagy (XMEA), a rare childhood-onset autophagic vacuolar myopathy caused by mutations in VMA21, is characterized by proximal muscle weakness and progressive vacuolation. VMA21 encodes a protein chaperone of the vacuolar hydrogen ion ATPase, the loss of which leads to lysosomal neutralization and impaired function. At present, there is an incomplete understanding of XMEA, its mechanisms, consequences on other systems, and therapeutic strategies.

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Background: Albumin is recommended in the management of patients with spontaneous bacterial peritonitis (SBP) to reduce rates of renal injury and mortality. Current guideline recommendations suggest an intravenous albumin dosing regimen of 1.5 g/kg on day 1 and 1 g/kg on day 3, although a maximum dosing strategy is not well-defined.

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Metabolic requirements vary during development, and our understanding of how metabolic activity influences cell specialization is incomplete. Here, we describe a switch from glutamine catabolism to synthesis required for erythroid cell maturation. Glutamine synthetase (GS), one of the oldest functioning genes in evolution, is activated during erythroid maturation to detoxify ammonium generated from heme biosynthesis, which is up-regulated to support hemoglobin production.

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Objective: Investigate missed adjuvant therapy and associated disparities in overall survival (OS) for human papillomavirus-associated (HPV+) oropharyngeal squamous cell carcinoma (OPSCC).

Methods: The 2010-2017 National Cancer Database was queried for patients with surgically resected HPV+ OPSCC. Indications for adjuvant radiotherapy (aRT) included pT3-4 classification, pN2-3 classification, lymphovascular invasion, pathologic extranodal extension (pENE), and/or positive surgical margins (PSM).

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Head and neck squamous cell carcinomas (HNSCCs) are cancers that arise in the mucosa of the upper aerodigestive tract. The five-year patient survival rate is ~50%. Treatment includes surgery, radiation, and/or chemotherapy and is associated with lasting effects even when successful in irradicating the disease.

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Objective: To investigate the experience of medical and graduate learners with second victim experience (SVE) after medical errors or adverse patient outcomes, including impact on training and identification of factors that shape their postevent recovery.

Patients And Methods: The validated Second Victim Experience and Support Tool-Revised (SVEST-R), Physician Well-Being Index, and supplemental open-ended questions were administered to multidisciplinary health care learners between April 8, 2022, and May 30, 2022, across a large academic health institution. Open-ended responses were qualitatively analyzed for iterative themes related to impact of SVE on the training experience.

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Background: Assessing perceptions of the COVID-19 vaccines is essential for understanding vaccine hesitancy and for improving uptake during public health emergencies. In the complicated landscape of COVID-19 vaccine mandates and rampant misinformation, many individuals faced challenges during vaccination decision-making. The purpose of our mixed methods study is to elucidate factors affecting vaccine decision-making and to highlight the discourse surrounding the COVID-19 vaccines in diverse and underserved communities.

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Objectives: In 2018, the Healing Emotional Lives of Peers (HELP) Program was implemented at Mayo Clinic Rochester to guide healthcare professionals (HCPs) after a second victim experience, such as adverse patient events or medical errors. The HELP program was expanded to all HCPs in response to the anticipated stressors of the COVID-19 pandemic. This article aims to describe the rapid expansion of the peer support program and evaluate the effectiveness of peer support provided to affected colleagues (ACs).

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Direct oral anticoagulants (DOACs) for venous thromboembolism (VTE) treatment are of interest in oncology due to ease of administration and lack of need for therapeutic monitoring compared to other anticoagulants. Data supporting their use in patients with hematologic malignancies post-hematopoietic stem cell transplant (HCT) are limited. The purpose of the study is to characterize DOAC use in HCT patients.

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Article Synopsis
  • The study aimed to understand how the COVID-19 pandemic affected obstetric patients, focusing on those from socioeconomically advantaged backgrounds, by surveying their perinatal care experiences and coping mechanisms.
  • A total of 6,140 pregnant and postpartum patients were surveyed, with a 17.8% response rate revealing that many experienced worsened postpartum care and significant stress and mental health challenges during the pandemic.
  • The findings highlight the need for improved counseling and support strategies in perinatal care during public health emergencies, as the disruptions affected not only medical care but also social interactions and overall well-being.
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Hypercholesterolemia and vascular inflammation are key interconnected contributors to the pathogenesis of atherosclerosis. How hypercholesterolemia initiates vascular inflammation is poorly understood. Here we show in male mice that hypercholesterolemia-driven endothelial activation, monocyte recruitment and atherosclerotic lesion formation are promoted by a crosstalk between macrophages and endothelial cells mediated by the cholesterol metabolite 27-hydroxycholesterol (27HC).

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Background: The US Department of Veterans Affairs (VA) is the largest educator of health professions trainees in the country, but the roles and responsibilities of the modern clinician educator are increasingly challenging and complex. Most VA academic hospitalists with access to professional and faculty development receive it through academic affiliates. Many VA hospitalists lack this option, and teaching within the VA is unique given its specific health system, clinical environments, and patient population.

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Article Synopsis
  • Telehealth gained popularity during the COVID-19 pandemic, offering convenience but also facing access and quality barriers for both patients and clinicians.
  • This study aimed to understand diverse and underserved community experiences with telehealth, involving mixed methods and focus groups in various U.S. regions from January to November 2021.
  • Data was collected from 47 focus groups, contributing to insights on telehealth perceptions, with a total of 3,447 English and 146 Spanish responses from community outreach efforts.
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Introduction: The COVID-19 pandemic has disproportionally affected historically marginalized populations and their access to resources and healthcare. In times of crisis, authentic community engagement is more important than ever. This study was Phase 1 of a larger 3-phase study to conduct timely community-engaged research with community members to understand the disproportionate impact of COVID-19 on historically underserved communities.

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We found that in regenerative erythropoiesis, the erythroid progenitor landscape is reshaped, and a previously undescribed progenitor population with colony-forming unit-erythroid (CFU-E) activity (stress CFU-E [sCFU-E]) is expanded markedly to restore the erythron. sCFU-E cells are targets of erythropoietin (Epo), and sCFU-E expansion requires signaling from the Epo receptor (EpoR) cytoplasmic tyrosines. Molecularly, Epo promotes sCFU-E expansion via JAK2- and STAT5-dependent expression of IRS2, thus engaging the progrowth signaling from the IGF1 receptor (IGF1R).

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Perinatal patients were faced with the decision to receive a COVID-19 vaccination in the absence of clinical trial data on COVID-19 vaccine safety and efficacy in pregnant and lactating patients. We used the Coronavirus Perinatal Experiences Impact Survey to explore the impact of the COVID-19 pandemic on the lives of perinatal patients. The mixed-method survey was distributed to all patients ≥ 18 years old who were pregnant between January 1st, 2020 - April 28, 2021 at a large academic health system in the upper Midwest.

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Background: The COVID-19 pandemic has posed profound challenges for pregnant patients and their families. Studies conducted early in the pandemic found that pregnant individuals reported increased mental health concerns in response to pandemic-related stress. Many obstetric practices changed their healthcare delivery models, further impacting the experiences of pregnant patients.

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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder whose most debilitating pathology is progressive and cumulative heterotopic ossification (HO) of skeletal muscles, ligaments, tendons, and fascia. FOP is caused by mutations in the type I BMP receptor gene ACVR1, which enable ACVR1 to utilize its natural antagonist, activin A, as an agonistic ligand. The physiological relevance of this property is underscored by the fact that HO in FOP is exquisitely dependent on activation of FOP-mutant ACVR1 by activin A, an effect countered by inhibition of anti-activin A via monoclonal antibody treatment.

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Mitochondria are vital organelles that coordinate cellular energy homeostasis and have important roles in cell death. Therefore, the removal of damaged or excessive mitochondria is critical for maintaining proper cellular function. The PINK1-Parkin pathway removes acutely damaged mitochondria through a well-characterized mitophagy pathway, but basal mitochondrial turnover occurs via distinct and less well-understood mechanisms.

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More than 50 years of efforts to identify the major cytokine responsible for red blood cell (RBC) production (erythropoiesis) led to the identification of erythropoietin (EPO) in 1977 and its receptor (EPOR) in 1989, followed by three decades of rich scientific discovery. We now know that an elaborate oxygen-sensing mechanism regulates the production of EPO, which in turn promotes the maturation and survival of erythroid progenitors. Engagement of the EPOR by EPO activates three interconnected signaling pathways that drive RBC production via diverse downstream effectors and simultaneously trigger negative feedback loops to suppress signaling activity.

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In this issue of , Ma et al discuss their discovery of a novel function of G protein pathway suppressor 2 (GPS2) in promoting erythroid differentiation through stabilizing the erythroid master regulator erythroid Krüppel-like factor (EKLF, also known as KLF1).

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Background: Chromosomal translocation-induced expression of the chromatin modifying oncofusion protein MLL-AF9 promotes acute myelocytic leukemia (AML). Whereas WNT/β-catenin signaling has previously been shown to support MLL-AF9-driven leukemogenesis, the mechanism underlying this relationship remains unclear.

Methods: We used two novel small molecules targeting WNT signaling as well as a genetically modified mouse model that allow targeted deletion of the WNT protein chaperone Wntless (WLS) to evaluate the role of WNT signaling in AML progression.

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The erythropoietin receptor (EpoR) is widely expressed but its renoprotective action is unexplored. To examine the role of EpoR in vivo in the kidney, we induced acute kidney injury (AKI) by ischemia-reperfusion in mice with different EpoR bioactivities in the kidney. EpoR bioactivity was reduced by knockin of wild-type human EpoR, which is hypofunctional relative to murine EpoR, and a renal tubule-specific EpoR knockout.

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The NELF complex is a metazoan-specific factor essential for establishing transcription pausing. Although NELF has been implicated in cell fate regulation, the cellular regulation of NELF and its intrinsic role in specific lineage differentiation remains largely unknown. Using mammalian hematopoietic differentiation as a model system, here we identified a dynamic change of NELF-mediated transcription pausing as a novel mechanism regulating hematopoietic differentiation.

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