Publications by authors named "Waxman E"

Objective: To understand the experiences of parents and caregivers of hospitalized children with CommunityRx-Hunger, a social care intervention designed to address food insecurity and other health-related social risks (HRSRs). Perspectives on how clinicians can sensitively deliver information about HRSRs in the pediatric inpatient setting were also elicited.

Methods: In-depth, semistructured qualitative interviews were conducted (April 2022 through April 2023) with caregivers of children hospitalized at an urban academic medical center.

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Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the gene. Currently there are no disease-modifying treatments; however, previous work has shown the potential of gene therapy, specifically RNAi, as a potential modality. Cas9 editing offers potential for these patients but has yet to be evaluated in SCA1 models.

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While guided human cortical organoid (hCO) protocols reproducibly generate cortical cell types at one site, variability in hCO phenotypes across sites using a harmonized protocol has not yet been evaluated. To determine the cross-site reproducibility of hCO differentiation, three independent research groups assayed hCOs in multiple differentiation replicates from one induced pluripotent stem cell (iPSC) line using a harmonized miniaturized spinning bioreactor protocol across 3 months. hCOs were mostly cortical progenitor and neuronal cell types in reproducible proportions that were consistently organized in cortical wall-like buds.

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Background: The Point-of-Care Diabetic Retinopathy Examination Program (POCDREP) was initiated in 2015 at the University of Pittsburgh/UPMC in response to low diabetic retinopathy (DR) examination rates, a condition affecting a quarter of people with diabetes mellitus (PwDM) and leading to blindness. Early detection and treatment are critical with DR prevalence projected to triple by 2050. Approximately, half of PwDM in the U.

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Diabetic Retinopathy stands as a leading cause of irreversible blindness, necessitating frequent examinations, especially in the early stages where effective treatments are available. However, current examination rates vary widely, ranging from 25-60%. This study scrutinizes the Point-of-Care Diabetic Retinopathy Examination Program at the University of Pittsburgh/UPMC, delving into its composition, evolution, challenges, solutions, and improvement opportunities.

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Objective: Children's hospitals are implementing interventions to connect families to community-based resources. This study describes food insecurity (FI) and food resource knowledge, need, and use among families with a hospitalized child.

Methods: Between November 2020 and June 2022, 637 caregivers of hospitalized children in an urban 42-ZIP-code area were surveyed as part of a randomized controlled trial.

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Article Synopsis
  • - Human brain organoid models are valuable for researching brain development and function due to their ability to mimic human genetics and facilitate lab manipulation.
  • - There are ongoing concerns about the accuracy and reliability of these models, which need to be addressed to maximize their potential in science and medicine.
  • - The article reviews current techniques for analyzing these organoids, discusses existing challenges, and offers suggestions for improving consistency and precision in future research.
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Neutron stars and stellar-mass black holes are the remnants of massive star explosions. Most massive stars reside in close binary systems, and the interplay between the companion star and the newly formed compact object has been theoretically explored, but signatures for binarity or evidence for the formation of a compact object during a supernova explosion are still lacking. Here we report a stripped-envelope supernova, SN 2022jli, which shows 12.

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Article Synopsis
  • Multiple sulfatase deficiency (MSD) is a super rare disease caused by a problem in a gene that affects the body's ability to break down certain substances.
  • People with MSD can have serious health issues like learning difficulties, hearing loss, and problems with their organs and skin.
  • Scientists created special cells from MSD patients to study the disease better, which could help them find new ways to treat it.
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Article Synopsis
  • The study focuses on creating excitatory cortical neurons from human pluripotent stem cells (hPSCs) to help understand neurodevelopmental disorders and develop new treatments.
  • A new directed differentiation protocol is presented, which efficiently generates 2D cultures of hPSC-derived excitatory cortical neurons without needing embryoid body formation, and has been validated across multiple labs with different hPSC lines.
  • The protocol includes detailed guidance on checking differentiation progress and troubleshooting tips to ensure successful neuron generation.
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Background And Objectives: Pediatric hospitals are adopting strategies to address food insecurity (FI), a stigmatizing condition, among families with children. We hypothesized that parents and other caregivers ("caregivers") from households with FI or marginal food security (MFS) are more likely to experience discrimination during their child's hospitalization.

Methods: We analyzed data from 319 caregivers of children admitted to an urban, academic children's hospital and randomly assigned to the control arm of the double-blind randomized controlled CommunityRx-Hunger trial (November 2020 to June 2022, NCT R01MD012630).

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Purpose: The purpose of this study was to analyze appointment attendance rates and patient characteristics associated with follow-up adherence after referral from a community vision screening event.

Methods: A retrospective chart review of patients who attended a 2021 or 2022 community vision screening event and were referred to the university clinic for further care. Appointments were offered without charge and scheduled at the event.

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Importance: Health-related social risks (HRSRs), like food and housing insecurity, are stigmatized conditions that, when addressed in clinical settings, could inadvertently compromise health care experiences.

Objective: To test the noninferiority hypothesis that a low-intensity, high-scale social care intervention does not promote experiences of discrimination or diminish satisfaction with care compared to usual care.

Design, Setting, And Participants: This was a double-blind randomized clinical trial conducted from November 2020 to June 2022 with 12-month follow-up analyzing data obtained 1 week after baseline intervention at a 155-bed academic urban children's hospital with 5300 annual admissions.

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Article Synopsis
  • Posterior uveitis is an eye condition that can affect anyone and is often a reason people visit eye doctors.
  • It can be caused by infections, autoimmune diseases, and some conditions that look like uveitis but aren’t really it, which makes it tricky to diagnose.
  • This study looked at different types of uveitis and their confusing similarities to other diseases to help doctors better recognize and treat these eye problems.
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Background: Reproducibility of human cortical organoid (hCO) phenotypes remains a concern for modeling neurodevelopmental disorders. While guided hCO protocols reproducibly generate cortical cell types in multiple cell lines at one site, variability across sites using a harmonized protocol has not yet been evaluated. We present an hCO cross-site reproducibility study examining multiple phenotypes.

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Article Synopsis
  • Genetic variants in the EZH1 chromatin modifier are linked to both dominant and recessive neurodevelopmental disorders in 19 individuals, highlighting its role in disease etiology.
  • EZH1 impacts histone modification and is essential for the differentiation of neural progenitor cells, with recessive variants causing loss of function and dominant variants resulting in gain of function due to mutations.
  • The findings underscore EZH1's crucial role in neurogenesis and offer a molecular basis for diagnosing certain neurodevelopmental disorders that were previously unclassified.
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The CHOPWT17_TPM1KOc28 iPSC line was generated to interrogate the functions of Tropomyosin 1 (TPM1) in primary human cell development. This line was reprogrammed from a previously published wild type control iPSC line.

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 Positive and negative associations between prior publications and future research productivity is described in other fields, but no such analysis exists for ophthalmology. We conducted a study to determine characteristics of residents exhibiting research productivity during residency.  Using San Francisco Match and Program Web sites, a roster of ophthalmology residents in 2019 to 2020 was compiled, and publication data was collected via PubMed and Google Scholar on a random sample of 100 third-year residents.

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 We assess the clinical accuracy of direct-to-patient real-time outpatient video visit encounters at our eye center.  This was a retrospective longitudinal study.  Patients who completed a video visit over a 3-week period between March and April 2020 were included.

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We present results from a field study monitoring methane and volatile organic compound emissions near an unconventional oil well development in Northern Colorado from September 2019 to May 2020 using a mid-infrared dual-comb spectrometer. This instrument allowed quantification of methane, ethane, and propane in a single measurement with high time resolution and integrated path sampling. Using ethane and propane as tracer gases for methane from oil and gas activity, we observed emissions during the drilling, hydraulic fracturing, millout, and flowback phases of well development.

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The CHOPWT17_TPM1KOc28 iPSC line was generated to interrogate the functions of ( ) in primary human cell development. This line was reprogrammed from a previously published wild type control iPSC line.

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Alternative splicing of neuronal genes is controlled partly by the coordinated action of polypyrimidine tract binding proteins (PTBPs). While PTBP1 is ubiquitously expressed, PTBP2 is predominantly neuronal. Here, we define the PTBP2 footprint in the human transcriptome using brain tissue and human induced pluripotent stem cell-derived neurons (iPSC-neurons).

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Background: Langerhan cell histiocytosis (LCH), although not a common cause, should be kept in the differential diagnosis for a patient that presents with a choroidal mass.

Case Presentation: A 28-year-old female presented with a 4-day history of vision loss and associated pain in her right eye.

Examination And Investigations: A dilated fundus examination revealed a deep subretinal, orange, mottled lesion with associated serous retinal detachment.

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Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular sulfatases. MSD patients display reduced or absent sulfatase activities and, as a result, clinical signs of single sulfatase disorders in a unique combination.

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Importance: Although parental leave is essential in enhancing resident wellness and fostering inclusive workplace environments, residents may often feel discouraged from using parental leave owing to perceived stigma and concerns about possible negative effects on their training.

Objective: To examine parental leave usage across multiple institutions and compare residency performance metrics between residents who took parental leave vs their peers who did not take leave.

Design, Setting, And Participants: This was a retrospective cross-sectional analysis conducted from April 1, 2020, to July 28, 2022, of educational records.

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