Sleep Medicine Commons^™

When Macroglossia Is Not Beckwith-Wiedemann: A Case Of An Infant With Congenital Central Hypoventilation Syndrome, Shauna Michelle Vandoren, Samira Naime

Posters

Introduction Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder caused by the mutation of the paired-like homeobox 2B (PHOX2B) gene that leads to alveolar hypoventilation during sleep and at times while awake. The majority of patients with CCHS have polyalanine repeat mutations (PARM) whereas 10% have non-PARM (NPARM). Of those with NPARM, less than 1% are caused by whole gene deletion. NPARM is associated with more severe phenotypes; however, some may have variable penetrance causing variable presentation within families. Report of case(s) Our patient is a 4-month-old infant born at 32 weeks in an outside hospital and transferred …

Protein Biomarkers Of Interstitial Lung Abnormalities In Relatives Of Patients With Pulmonary Fibrosis, Jonathan A Rose, Mark P Steele, Esteban J Kosak Lopez, Gisli Thor Axelsson, Andrea G Galecio Chao, Alan Waich, Katie Regan, Swati Gulati, Anthony H Maeda, Sharmin Sultana, Claire Cutting, Ann-Marcia C Tukpah, Andrew J Synn, Mary B Rice, Hilary J Goldberg, Joyce S Lee, David A Lynch, Rachel K Putman, Hiroto Hatabu, Benjamin A Raby, David A Schwartz, Ivan O Rosas, Gary M Hunninghake

Faculty, Staff and Students Publications

Rationale: First-degree relatives of patients with pulmonary fibrosis (referred to here as relatives) are at high risk for interstitial lung abnormalities (ILA), highlighting the need for biomarkers for risk prediction. We aimed to identify blood proteins associated with and predictive of ILA among relatives of patients with pulmonary fibrosis.

Methods: Relatives enrolled in two independent cohorts had protein levels measured using an aptamer-based proteomic platform. ILA were assessed with computed tomography scans as per Fleischner Society recommendations. Protein associations with ILA were assessed using regression. Significant proteins were used with clinical variables to detect ILA.

Results: Of 237 relatives from …

Targeting S1pr2 In Sepsis, One Fragmented Mitochondrion At A Time, Chao He, Jennifer L Larson-Casey

Faculty, Staff and Students Publications

No abstract provided.

Airway Immune Signatures In Severe And Fatal Infection With Covid-19, Naresh Doni Jayavelu, Jing Jing Qi, Slim Fourati, Farrah Kheradmand, Charles R Langelier, Lauren I R Ehrlich, Joann Diray-Arce, Annmarie Hoch, Monica Kraft, Patrice M Becker, Matthew C Altman, Ruth R Montgomery

Faculty, Staff and Students Publications

No abstract provided.

Secreted Phosphoprotein 1 In Lung Diseases, Hongli Liu, Cristian Coarfa, Arzoo N Charania, Jennifer L Larson-Casey, Ivan O Rosas, Chao He

Faculty, Staff and Students Publications

Secreted phosphoprotein 1 (SPP1), also known as osteopontin (OPN) or early T lymphocyte activation protein 1 (ETA-1), is a multifunctional protein involved in numerous biological processes, including immune modulation, stress response, and tissue remodeling. The role of SPP1 in interstitial lung diseases (ILDs) has become an area of increasing interest, given its elevated expression in various ILDs such as idiopathic pulmonary fibrosis (IPF), connective tissue disease-associated ILD (CTD-ILD), and pneumoconiosis, especially with recent data derived from single-cell RNA sequencing. In addition to ILDs, SPP1 has been implicated in infectious granulomatous lung diseases, lung and pleural malignancies, airway diseases, and COVID-19. …

The Perk/Atf4 Pathway Is Required For Metabolic Reprogramming And Progressive Lung Fibrosis, Jyotsana Pandey, Jennifer L Larson-Casey, Mallikarjun H Patil, Chao He, Nisarat Pinthong, A Brent Carter

Faculty, Staff and Students Publications

Asbestosis is a prototypical type of fibrosis that is progressive and does not resolve. ER stress is increased in multiple cell types that contribute to fibrosis; however, the mechanism(s) by which ER stress in lung macrophages contributes to fibrosis is poorly understood. Here, we show that ER stress resulted in protein kinase RNA-like ER kinase (PERK; Eif2ak3) activation in humans with asbestosis. Similar results were seen in asbestos-injured mice. Mice harboring a conditional deletion of Eif2ak3 were protected from fibrosis. Lung macrophages from asbestosis individuals had evidence of metabolic reprogramming to fatty acid oxidation (FAO). Eif2ak3fl/fl mice had increased oxygen …

The Joint Association Of Diet Quality And Sleep Regularity With Incident Cardiovascular Disease In The Multi-Ethnic Study Of Atherosclerosis, Kaitlin S Potts, Claire Veldkamp, Alexis C Wood, Erin D Michos, Raymond Noordam, Tianyi Huang, Susan Redline, Heming Wang

Children’s Nutrition Research Center Staff Publications

Background/objectives: Diet quality and sleep regularity both influence cardiovascular disease (CVD) risk and may influence each other, but there is scarce evidence for their joint or interacting associations in relation to CVD. We assessed these associations in the Multi-Ethnic Study of Atherosclerosis (MESA).

Methods: Participants free of CVD with valid diet and sleep measures in 2010-2013 were included and followed through 2020 for detection of incident CVD (188 events detected over 8.8 years among 1782 participants; 55% women). Sleep timing and duration regularity were assessed via the intra-individual SD of sleep onset time and duration across 5- to 7-day actigraphy. …

Single Center Comparison Of Home Sleep Apnea Testing Based On Respiratory Polygraphy Vs. Peripheral Arterial Tonometry, Stephen F. White, Md, Praneet C. Kaki, Bs, Henry C. Ideker, Md, Ritu G. Grewal, Md

Health Equity and Quality Improvement (HEQI) Summit

Introduction

• Home sleep apnea testing (HSAT) is an accessible option for diagnosing obstructive sleep apnea (OSA) in patients with high pre- test probability of moderate to severe OSA
• Cardio-respiratory polygraphy (RP) has traditionally been utilized and involves wearing a nasal airflow cannula, pulse oximeter, and respiratory effort belt with actigraphy
• Peripheral arterial tonometry (PAT)-based testing is a newer technology that involves wearing a disposable smartwatch-sized computer on the wrist, sensor on the finger and sensor on the chest and has been validated for HSAT
• PAT-based HSAT has been increasingly utilized due to perceived ease of use, improved patient comfort, and …

A Retrospective Study Of Pulmonary Function Tests In Bronchiectasis: An Infectious Disease Of The Respiratory System, Vinod Mutkule, Mahesh Shinde, Vidya Bapmare, Sangramsingh Dixit, Atharva Sharma, Kshitij Sarwey, Yogeshwari Patil, Sanket Jethlia, Aayushi Dwivedi, Disha Pardeshi, Anmol Rai, Kunal Shah, Vidhi Kalwar

The University of Louisville Journal of Respiratory Infections

Introduction: Bronchiectasis, currently being recognized worldwide, is an abnormal dilatation of the bronchi and bronchioles brought on by recurrent cycles of inflammation and airway infection. Impaired pulmonary function has a predictive significance in bronchiectasis. When treating patients with suspected or confirmed respiratory diseases, pulmonary function tests (PFT) are useful examinations. Very few studies have been done on PFTs in bronchiectasis. The main aim of this study is to study PFTs in bronchiectasis.

Method: This is a retrospective observational study done on 50 patients over two years at the tertiary care center. The previous records of patients were collected from the …

Comparative Analysis Of Drug-Induced Sleep Endoscopy With Positive Airway Pressure And Therapeutic Continuous Positive Airway Pressure In The Treatment Of Obstructive Sleep Apnea, Elliott M. Sina, Nicole Molin, Praneet C. Kaki, Henry Ideker, Stephen White, Maurits Boon, Colin Huntley

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

No abstract provided.

Let-7 Restrains An Epigenetic Circuit In At2 Cells To Prevent Fibrogenic Intermediates In Pulmonary Fibrosis, Matthew J Seasock, Md Shafiquzzaman, Maria E Ruiz-Echartea, Rupa S Kanchi, Brandon T Tran, Lukas M Simon, Matthew D Meyer, Phillip A Erice, Shivani L Lotlikar, Stephanie C Wenlock, Scott A Ochsner, Anton Enright, Alex F Carisey, Freddy Romero, Ivan O Rosas, Katherine Y King, Neil J Mckenna, Cristian Coarfa, Antony Rodriguez

Faculty, Staff and Students Publications

MicroRNA-mediated post-transcriptional regulation of lung alveolar type 2 (AT2) and AT1 cell differentiation remains understudied. Here, we demonstrate that the let-7 miRNA family plays a homeostatic role in AT2 quiescence by preventing the uncontrolled accumulation of AT2 transitional cells and promoting AT1 differentiation. Using mouse and organoid models, we show that genetic ablation of let-7a1/let-7f1/let-7d cluster (let-7afd) in AT2 cells prevents AT1 differentiation and leads to KRT8 transitional cell accumulation in progressive pulmonary fibrosis. Integration of AGO2-eCLIP with RNA-sequencing identified direct let-7 targets within an oncogene feed-forward regulatory network, including BACH1/EZH2/MYC, which drives an aberrant fibrotic cascade. Additional CUT&RUN-sequencing analyses …

Integrating Positive Psychology And Spirituality To Foster Meaning And Well-Being In Older Adults, Crystal Morris

Adultspan Journal

This perspective article explores the integration of positive psychology interventions (PPIs) and spirituality in therapy to foster meaning and well-being in older adults. It highlights exercises such as the positive introduction, positive legacy, character strengths, mindfulness, mindful-based yoga, and a manifestation prayer journaling. The interventions presented are tools to support older adults that may experience depression, difficult life transitions, and the search for renewed meaning. Therapists who integrate PPIs and spirituality into therapy can promote a holistic, non-pathological approach to treatment.

Gut Dysbiosis Patterns In Cvid Patients With Noninfectious Complications Observed In A Germ-Free Mouse Model Through Fecal Microbiota Transplantation, Joud Hajjar, Anita Y Voigt, Margaret E Conner, Alton G Swennes, Stephanie Fowler, Chadi Calarge, Danielle D Mendonca, Dominique Armstrong, Chen-Yen Chang, Jolan E Walter, Manish J Butte, Tor Savidge, Julia Oh, Farrah Kheradmand, Joseph F Petrosino

Faculty, Staff and Students Publications

Patients with common variable immunodeficiency (CVID) who develop noninfectious complications (NIC) have worse clinical outcomes than those with infections only (INF). While gut microbiome aberrations have been linked to NIC, reductionist animal models that accurately recapitulate CVID are lacking. Our aim in this study was to uncover potential microbiome roles in the development of NIC in CVID. We performed whole-genome shotgun sequencing on fecal samples from CVID patients with NIC, INF, and their household controls. We also performed fecal microbiota transplants from CVID patients to germ-free mice. We found potentially pathogenic microbes

Outcomes Of Left Atrial Appendage Occlusion In Patients With Obstructive Sleep Apnea: A Comprehensive National Study, Tony Elias, Fady Beshara, Daniel Basta, Mena Elmalh, Matthew Ebrahim, Taha Syed, Olga Sarah, Abdallah Hussein

Rowan-Virtua Research Day

We sought to explore a sample of the inpatient population with OSA with AF who underwent LAAO.

Investigating Sleep Quality In Post-Stroke Delirium: A Scoping Review, Shay Greco, Bethany C. Young

Rowan-Virtua Research Day

Background: Delirium affects approximately 59% of hospitalized patients with intracerebral hemorrhage and is associated with poor outcomes. Sleep-wake cycle disturbances are hypothesized to contribute to delirium development, particularly in neurointensive care settings where frequent sleep interruptions occur.

Methods: We conducted a scoping review of literature published between 2014-2024 using PubMed, CINAHL, Embase, and Cochrane databases. Studies were included if they observed sleep in adult stroke populations.

Results: Four observational studies (2018-2023) met inclusion criteria, with sample sizes ranging from 20-112 participants. All studies included patients with ICH. All studies reported associations between poor sleep in patients with ICH and delirium …

A Broad Examination Of Sleep Issues In Pediatric Multiple Sclerosis And Other Conditions, Chaithanya Annaluru

Rowan-Virtua Research Day

Background: Poor sleep hygiene can lead to serious health consequences, including the development of health disorders and the worsening of chronic illnesses. Poor sleep quality or duration has been linked to neurocognitive changes such as inattention and lower IQ scores. Sleep disorders are especially prevalent among pediatric patients with neurologic and neuropsychiatric conditions; for example, children with epilepsy and ADHD exhibit higher rates of parasomnias, while patients with multiple sclerosis (MS) experience REM sleep behavior disorder and insomnia more often than the general population. Additionally, co-existing obstructive sleep apnea (OSA) and epilepsy can worsen seizure control, and uncontrolled epilepsy can …

Case Report: Hypercapnia's Hidden Dance: Myoclonus In A Patient With Co2 Retention, Kelsey Murray

Rowan-Virtua Research Day

Myoclonic jerking is a neurologic phenomenon characterized by sudden, involuntary muscle contractions. While often associated with neurological conditions, myoclonic jerking can also be observed in patients with significant carbon dioxide retention. This case report highlights the presentation of myoclonic jerking in a 77-year-old male with a history of sleep apnea and obesity, who presented to the emergency department with hypoxia and elevated carbon dioxide levels. Despite the lack of neurological deficits, the patient experienced intermittent myoclonic jerks of his hands, which were attributed to CO2 retention. The report underscores the importance of recognizing myoclonic jerking as a potential sign of …

Examining The Relationship Between Sleep Habits And Caffeine Consumption, Daniel Calaff, Rachel Pruchno

Rowan-Virtua Research Day

Sleep is essential for cognitive function, mood regulation, immune defense, and metabolic health. Despite widespread caffeine use, its impact on sleep remains debated. It was initially hypothesized that higher caffeine consumption would correlate with greater sleep disturbances. This study explored the relationship between caffeine consumption and sleep habits in a general adult population using a Qualtrics-based self-report survey. Participants (n=93) reported average hours slept per night, time to fall asleep, and number of nighttime awakenings. Caffeine consumption was calculated based on reported intake and categorized into four dosage groups. Sleep outcomes were statistically compared using ANOVA, t-tests, and Pearson correlation. …

Sleep Deprivation Increases Mortality Risk Among Older Adults With Epilepsy, Srikanta Banerjee, Jagdish Khubchandani, Stanley Nkemjika

Department of Psychiatry and Human Behavior Faculty Papers

Introduction: Among U.S. adults, over 3 million report a history of epilepsy, accounting for nearly 1.2% of the population. Sleep deprivation is a well-known risk factor for increased likelihood, intensity, and length of seizures. However, the long-term impact of sleep deprivation on people with epilepsy is not well explored. The purpose of this study was to assess mortality risk among individuals with epilepsy based on sleep duration.

Methods: Data from the 2008–2018 National Health Interview Survey (NHIS) were linked with mortality data from the National Death Index (NDI) for US adults aged 65 years and older. Survival curves showed the …

Liposomes As Imaging Agents Of Inflammation And Oxidative Stress In Bone Implants, Delia Danila, Patricia S Pardo, R Devesh Kumar Misra, Aladin M Boriek

Faculty, Staff and Students Publications

Liposomes are tiny, spherical vesicles made from cholesterol and natural phospholipids that are promising imaging agents for detecting medical complications. They can carry fluorescent markers or other imaging agents, making them effective for medical imaging. Furthermore, liposomes can target specific cells involved in inflammation, such as macrophages, and accumulate at inflammation sites when injected. Additionally, liposomes can be designed to respond to oxidative stress, which is often associated with bone implant complications. By detecting areas of stress, liposomes provide valuable information about implant health. However, challenges such as rapid clearance from the body, precise targeting, immune reactions, and high production …