Medical Specialties Commons^™

De Novo Missense Variants In Zbtb47 Are Associated With Developmental Delays, Hypotonia, Seizures, Gait Abnormalities, And Variable Movement Abnormalities, Scott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, Paul J Benke, Lisa Emrick, Kristen Fisher, Kimberly M Houck, Hongzheng Dai, Undiagnosed Diseases Network, Maria J Guillen Sacoto, William Craigen, Kimberly Glaser, David R Murdock, Luis Rohena, Karin E M Diderich, Hennie T Bruggenwirth, Brendan Lee, Carlos Bacino, Lindsay C Burrage, Jill A Rosenfeld

Faculty, Staff and Students Publications

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected …

Succinic Semialdehyde Dehydrogenase Deficiency: A Metabolic And Genomic Approach To Diagnosis, Kevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P Mackay, Kirt A Martin, Phillip L Pearl, K Michael Gibson, Theresa A Wilson, V Reid Sutton, Sarah H Elsea

Faculty, Staff and Students Publications

Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being overlooked as potentially causative, particularly in individuals with undifferentiated phenotypes. Consequently, many neurometabolic conditions, including those in the GABA (gamma-aminobutyric acid) catabolism pathway, are underdiagnosed. Succinic semialdehyde dehydrogenase deficiency (SSADHD, OMIM #271980) is a neurometabolic disorder in the GABA catabolism pathway. The disorder is due to bi-allelic pathogenic variants in

Case Report: An Association Of Left Ventricular Outflow Tract Obstruction With 5p Deletions, Kira Mascho, Svetlana A Yatsenko, Cecilia W Lo, Xinxiu Xu, Jennifer Johnson, Lindsey R Helvaty, Stephanie Burns Wechsler, Chaya N Murali, Seema R Lalani, Vidu Garg, Jennelle C Hodge, Kim L Mcbride, Stephanie M Ware, Jiuann-Huey Ivy Lin

Faculty, Staff and Students Publications

INTRODUCTION: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.

METHODS: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.

RESULTS: A retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of …

The Challenges And Opportunities Of Offering And Integrating Training In Clinical Molecular Genetics And Clinical Cytogenetics: A Survey Of Lgg Fellowship Program Directors, Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker, Yang Cao, Kristy R Crooks, Kristen L Deak, Daniela Del Gaudio, Birgit Funke, Nicole L Hoppman, Vanessa Horner, Robert B Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M Mikhail, Stephen R Moore, Rizwan C Naeem, Laura M Pollard, Elena A Repnikova, Lina Shao, Brandon M Shaw, Shashirekha Shetty, Teresa A Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H Vance, Cindy L Vnencak-Jones, Eli S Williams

Faculty, Staff and Students Publications

PURPOSE: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has not yet been any formal evaluation of the merging of these disciplines and the challenges faced by Program Directors (PDs) tasked with ensuring the successful training of laboratory geneticists under the new model.

METHODS: An electronic multi-question Qualtrics survey was created and was sent to the PD for each of the Accreditation Council for Graduate Medical Education-accredited LGG fellowship programs at the time. The data …

Human Plcg2 Haploinsufficiency Results In A Novel Natural Killer Cell Immunodeficiency, Joshua B Alinger, Emily M Mace, Justin R Porter, Annelise Y Mah-Som, Allyssa L Daugherty, Stephanie Li, Allison A Throm, Jeanette T Pingel, Nermina Saucier, Albert Yao, Ivan K Chinn, James R Lupski, Mohammad Ehlayel, Michael Keller, Greg R Bowman, Megan A Cooper, Jordan S Orange, Anthony R French

Faculty, Staff and Students Publications

Background:

Although most individuals effectively control herpesvirus infections, some suffer from severe and/or recurrent infections. A subset of these patients possess defects in NK cells, lymphocytes which recognize and lyse herpesvirus-infected cells; however, the genetic etiology is rarely diagnosed. PLCG2 encodes a signaling protein in NK cell and B cell signaling. Dominant-negative or gain-of-function variants in PLCG2 cause cold urticaria, antibody deficiency, and autoinflammation. However, loss-of-function variants and haploinsufficiency have not been reported to date.

Objective:

We aimed to identify the genetic cause of NK cell immunodeficiency in two families, and herein describe the functional consequences of two novel loss-of-function …

Case Report: P40phox Deficiency Underlying Pediatric-Onset Systemic Lupus Erythematosus, Alejandro Nieto-Patlán, Natalia S Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R Lupski, Steven M Holland, Bo Yuan, Douglas B Kuhns, Tiphanie P Vogel, Ivan K Chinn

Faculty, Staff and Students Publications

Introduction

Systemic lupus erythematosus is a multi-faceted autoimmune disorder of complex etiology. Pre-pubertal onset of pediatric systemic lupus erythematosus (pSLE) is uncommon and should raise suspicion for a genetic driver of disease. Autosomal recessive p40^phox deficiency is a rare immunologic disorder characterized by defective but not abolished NADPH oxidase activity with residual production of reactive oxygen species (ROS) by phagocytic cells.

Case presentation

We report the case of a now 18-year-old female with pSLE onset at 7 years of age. She presented with recurrent fever and malar rash. Aspects of her immune dysregulation over time have included typical pSLE …

International Society For Extracellular Vesicles Workshop Quantitatevs: Multiscale Analyses, From Bulk To Single Extracellular Vesicle, Manuela Basso, Alessandro Gori, Caterina Nardella, Mari Palviainen, Marija Holcar, Ioannis Sotiropoulos, Sylwia Bobis-Wozowicz, Vito G D'Agostino, Elena Casarotto, Yari Ciani, Shiro Suetsugu, Alice Gualerzi, Lorena Martin-Jaular, Daniela Boselli, Anna Kashkanova, Pietro Parisse, Lien Lippens, Martina Pagliuca, Martin Blessing, Roberto Frigerio, Thibaut Fourniols, Ana Meliciano, Anna Fietta, Paolo Vincenzo Fioretti, Karolina Soroczyńska, Silvia Picciolini, Amanda Salviano-Silva, Paolo Bergese, Davide Zocco, Marcella Chiari, Guido Jenster, Levi Waldron, Aleksandar Milosavljevic, John Nolan, Marco P Monopoli, Kenneth W Witwer, Benedetta Bussolati, Dolores Di Vizio, Juan Falcon Perez, Metka Lenassi, Marina Cretich, Francesca Demichelis

Faculty, Staff and Students Publications

The “QuantitatEVs: multiscale analyses, from bulk to single vesicle” workshop aimed to discuss quantitative strategies and harmonized wet and computational approaches toward the comprehensive analysis of extracellular vesicles (EVs) from bulk to single vesicle analyses with a special focus on emerging technologies. The workshop covered the key issues in the quantitative analysis of different EV‐associated molecular components and EV biophysical features, which are considered the core of EV‐associated biomarker discovery and validation for their clinical translation. The in‐person‐only workshop was held in Trento, Italy, from January 31st to February 2nd, 2023, and continued in Milan on February 3rd with “Next …

Early Administration Of Steroids In The Ambulance Setting: An Observational Design Trial (Easi-As-Odt), Jennifer N Fishe, Gerard Garvan, Andrew Bertrand, Shannon Burcham, Phyllis Hendry, Manish Shah, Kathryn Kothari, David W Ashby, Daniel Ostermeyer, Lauren Riney, Olga Semenova, Benjamin Abo, Benjamin Abes, Nichole Shimko, Emily Myers, Marshall Frank, Tim Turner, Mac Kemp, Kim Landry, Greg Roland, Kathryn V Blake

Faculty, Staff and Students Publications

BACKGROUND: In the emergency department (ED), prompt administration of systemic corticosteroids for pediatric asthma exacerbations decreases hospital admission rates. However, there is sparse evidence for whether earlier administration of systemic corticosteroids by emergency medical services (EMS) clinicians, prior to ED arrival, further improves pediatric asthma outcomes.

METHODS: Early Administration of Steroids in the Ambulance Setting: An Observational Design Trial is a multicenter, observational, nonrandomized stepped-wedge design study with seven participating EMS agencies who adopted an oral systemic corticosteroid (OCS) into their protocols for pediatric asthma treatment. Using univariate analyses and multivariable mixed-effects models, we compared hospital admission rates for pediatric …

Etiology Of Hospital Mortality In Children Living In Low- And Middle-Income Countries: A Systematic Review And Meta-Analysis, Teresa B Kortz, Rishi P Mediratta, Audrey M Smith, Katie R Nielsen, Asya Agulnik, Stephanie Gordon Rivera, Hailey Reeves, Nicole F O'Brien, Jan Hau Lee, Qalab Abbas, Jonah E Attebery, Tigist Bacha, Emaan G Bhutta, Carter J Biewen, Jhon Camacho-Cruz, Alvaro Coronado Muñoz, Mary L Dealmeida, Larko Domeryo Owusu, Yudy Fonseca, Shubhada Hooli, Hunter Wynkoop, Mara Leimanis-Laurens, Deogratius Nicholaus Mally, Amanda M Mccarthy, Andrew Mutekanga, Carol Pineda, Kenneth E Remy, Sara C Sanders, Erica Tabor, Adriana Teixeira Rodrigues, Justin Qi Yuee Wang, Niranjan Kissoon, Yemisi Takwoingi, Matthew O Wiens, Adnan Bhutta

Faculty, Staff and Students Publications

In 2019, 80% of the 7.4 million global child deaths occurred in low- and middle-income countries (LMICs). Global and regional estimates of cause of hospital death and admission in LMIC children are needed to guide global and local priority setting and resource allocation but are currently lacking. The study objective was to estimate global and regional prevalence for common causes of pediatric hospital mortality and admission in LMICs. We performed a systematic review and meta-analysis to identify LMIC observational studies published January 1, 2005-February 26, 2021. Eligible studies included: a general pediatric admission population, a cause of admission or death, …

Protein Biomarkers Gdf15 And Fgf21 To Differentiate Mitochondrial Hepatopathies From Other Pediatric Liver Diseases, Johan L K Van Hove, Marisa W Friederich, Dana K Strode, Roxanne A Van Hove, Kristen R Miller, Rohit Sharma, Hardik Shah, Jane Estrella, Linda Gabel, Simon Horslen, Rohit Kohli, Mark A Lovell, Alexander G Miethke, Jean P Molleston, Rene Romero, James E Squires, Estella M Alonso, Stephen L Guthery, Binita M Kamath, Kathleen M Loomes, Philip Rosenthal, Krupa R Mysore, Laurel A Cavallo, Pamela L Valentino, John C Magee, Shikha S Sundaram, Ronald J Sokol, Childhood Liver Disease Research Network (Children)

Faculty, Staff and Students Publications

BACKGROUND: Mitochondrial hepatopathies (MHs) are primary mitochondrial genetic disorders that can present as childhood liver disease. No recognized biomarkers discriminate MH from other childhood liver diseases. The protein biomarkers growth differentiation factor 15 (GDF15) and fibroblast growth factor 21 (FGF21) differentiate mitochondrial myopathies from other myopathies. We evaluated these biomarkers to determine if they discriminate MH from other liver diseases in children.

METHODS: Serum biomarkers were measured in 36 children with MH (17 had a genetic diagnosis); 38 each with biliary atresia, α1-antitrypsin deficiency, and Alagille syndrome; 20 with NASH; and 186 controls.

RESULTS: GDF15 levels compared to controls were …

Gene Content, Phage Cycle Regulation Model And Prophage Inactivation Disclosed By Prophage Genomics In The Helicobacter Pylori Genome Project, Filipa F Vale, Richard J Roberts, Ichizo Kobayashi, M Constanza Camargo, Charles S Rabkin, Hpgp Research Network

Faculty, Staff and Students Publications

Prophages can have major clinical implications through their ability to change pathogenic bacterial traits. There is limited understanding of the prophage role in ecological, evolutionary, adaptive processes and pathogenicity of Helicobacter pylori, a widespread bacterium causally associated with gastric cancer. Inferring the exact prophage genomic location and completeness requires complete genomes. The international Helicobacter pylori Genome Project (HpGP) dataset comprises 1011 H. pylori complete clinical genomes enriched with epigenetic data. We thoroughly evaluated the H. pylori prophage genomic content in the HpGP dataset. We investigated population evolutionary dynamics through phylogenetic and pangenome analyses. Additionally, we identified …

Development Of A Mini Pig Model Of Peanut Allergy, Akhilesh Kumar Shakya, Brittany Backus, Lazar D Nesovic, Malini Mallick, Olivia Banister, Carla M Davis, Sara Anvari, Harvinder Singh Gill

Faculty, Staff and Students Publications

INTRODUCTION: The prevalence of peanut allergies is increasing, emphasizing the need for an animal model to enhance our understanding of peanut allergy pathogenesis and to advance diagnostic tools and therapeutic interventions. While mice are frequently used as model organisms, their allergic responses do not fully mirror those observed in humans, warranting the exploration of a higher animal model. The porcine gastrointestinal system closely resembles that of humans, and exhibits allergy symptoms akin to human responses, making pigs a promising model for peanut allergy research.

METHODS: In this study we compared two allergen sensitization protocols involving either topical allergen application after …

Integrative Computational Analyses Implicate Regulatory Genomic Elements Contributing To Spina Bifida, Paul Wolujewicz, Vanessa Aguiar-Pulido, Gaurav Thareja, Karsten Suhre, Olivier Elemento, Richard H Finnell, M Elizabeth Ross

Faculty, Staff and Students Publications

PURPOSE: Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic networks and molecular pathways that govern neurulation. This study aims to delineate genome-wide regulatory signatures underlying SB pathophysiology.

METHODS: An untargeted, genome-wide approach was used to interrogate regulatory regions for rare single-nucleotide and copy-number variants (rSNVs and rCNVs, respectively) predicted to affect gene expression, comparing results from SB patients with healthy controls. Qualifying variants were subjected to a deep learning prioritization framework to identify the most functionally relevant variants, …

Folate Regulation Of Planar Cell Polarity Pathway And F-Actin Through Folate Receptor Alpha, Xiao Han, Xuanye Cao, Robert M Cabrera, Paula Andrea Pimienta Ramirez, Ying Linda Lin, Bogdan J Wlodarczyk, Cuilian Zhang, Richard H Finnell, Yunping Lei

Faculty, Staff and Students Publications

Folate deficiency contribute to neural tube defects (NTDs) which could be rescued by folate supplementation. However, the underlying mechanisms are still not fully understood. Besides, there is considerable controversy concerning the forms of folate used for supplementation. To address this controversy, we prepared culture medium with different forms of folate, Folic acid (FA) and 5-methyltetrahydrofolate(5mTHF), at concentration of 5uM, 500nM, 50nM and folate free, respectively. Mouse embryonic fibroblasts (MEFs) were treated with different folates continuously for three passages and cell proliferation and F-actin was monitored. We determined that compared to 5mTHF, FA showed stronger effects on promoting cell proliferation and …

Effects And Plasma Proteomic Analysis Of Glp-1ra Versus Cpa/Ee, In Combination With Metformin, On Overweight Pcos Women: A Randomized Controlled Trial, Mingyu Liao, Xing Li, Hao Zhang, Ling Zhou, Liu Shi, Weixin Li, Rufei Shen, Guiliang Peng, Huan Zhao, Jiaqing Shao, Xiujie Wang, Zheng Sun, Hongting Zheng, Min Long

Faculty, Staff and Students Publications

PURPOSE: Polycystic ovary syndrome (PCOS) is characterized by reproductive dysfunctions and metabolic disorders. This study aims to compare the therapeutic effectiveness of glucagon-like peptide-1 receptor agonist (GLP-1RA) + Metformin (Met) versus cyproterone acetate/ethinylestradiol (CPA/EE) + Met in overweight PCOS women and identify potential proteomic biomarkers of disease risk in women with PCOS.

METHODS: In this prospective, open-label randomized controlled trial, we recruited 60 overweight PCOS women into two groups at a 1:1 ratio to receive CPA/EE (2 mg/day: 2 mg cyproterone acetate and 35-μg ethinylestradiol,) +Met (1500 mg/day) or GLP-1 RA (liraglutide, 1.2-1.8 mg/day) +Met (1500 mg/day) for 12 weeks. …

Cffdna Screening For Niemann-Pick Disease, Type C1: A Case Series, Sydney A Lau, Romy I Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Christine M Eng, Malak Abedalthagafi

Faculty, Staff and Students Publications

Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions. This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene. We aim to illustrate the significant benefits of AR cffDNA screening in managing high-risk pregnancies, specifically where biallelic pathogenic variants in NPC1 cause Niemann-Pick disease, type C1 (NPC), a disorder marked by progressive neurodegeneration. Three participants for this study were recruited and gave consent to a hospital in Saudi Arabia. These participants were either carriers of NPC or …

Profile Of Caregiving Activities And Association With Physical Health Among Dementia Spousal Caregivers, Jinmyoung Cho, Laura P Sands, Alan B Stevens, Heather G Allore, Molly J Horstman

Faculty, Staff and Students Publications

Background and objectives: This study aims to identify patterns of caregiving intensity and assess associations between caregiving intensity and multidimensional physical health indicators and health behaviors among spousal caregivers of persons with Alzheimer's disease and related dementia.

Research design and methods: Using data from 152 spousal caregivers aged 65 and older, the intensity of their caregiving experience was measured as the number and frequency of health- and medical-related helping activities for their care recipient. Multidimensional health indicators included self-reported fatigue, sleep disturbance, physical functioning, pain interference, general health, and the number of chronic conditions from the electronic health records. Self-reported …

Variability In Chest Radiology Interpretation Between Thoracic And Non-Thoracic Radiologists: Implications For Pulmonary Fibrosis Care, Daniel M Guidot, Danielle Seaman, Roy A Pleasants, Armando Bedoya, Robert M Tighe, Bhavika Kaul

Faculty, Staff and Students Publications

No abstract provided.

Characteristics And Contributing Factors Of Diagnostic Error In Surgery: Analysis Of Closed Medico-Legal Cases And Complaints In Canada, Janice L Kwan, Lisa A Calder, Cara L Bowman, Anna Macintyre, Richard Mimeault, Liisa Honey, Cynthia Dunn, Gary Garber, Hardeep Singh

Faculty, Staff and Students Publications

Background: Diagnostic errors lead to patient harm; however, most research has been conducted in nonsurgical disciplines. We sought to characterize diagnostic error in the pre-, intra-, and postoperative surgical phases, describe their contributing factors, and quantify their impact related to patient harm.

Methods: We performed a retrospective analysis of closed medico-legal cases and complaints using a database representing more than 95% of all Canadian physicians. We included cases if they involved a legal action or complaint that closed between 2014 and 2018 and involved a diagnostic error assigned by peer expert review to a surgeon.

Results: We identified 387 surgical …

How Users' Perceptions Of Friends' Content Influence Their "Annoyance" After Viewing Facebook Posts, Mai-Ly N Steers, Robert E Wickham, Olivia M Tabaczyk, Chelsie M Young, Michelle C Quist, Lindsey B Eikenburg, Jennifer L Bryan

Faculty, Staff and Students Publications

Social media posts may elicit strong, instantaneous feelings of irritation, or "annoyance." The current experiment investigated how participants' ratings of Facebook posts and their levels of closeness to the poster impacted these feelings. Respondents (N = 476) were asked to rate how irrelevant, inappropriate, mundane, and annoying Facebook posts from an imagined close friend, moderately close friend, and acquaintance were. A cross-classified, Bayesian structural equation model determined the unique contributions at the rater level, target level, and the distinct combination of rater and target at the within level. At the within level, results suggested irrelevance, mundaneness, and inappropriateness of posts …

Hepatocellular Carcinoma Incidence Threshold For Surveillance In Virologically Cured Hepatitis C Individuals, Jagpreet Chhatwal, Ali Hajjar, Peter P Mueller, Gizem Nemutlu, Neeti Kulkarni, Mary Linton B Peters, Fasiha Kanwal

Faculty, Staff and Students Publications

Background & aims: Guidelines recommend biannual surveillance for hepatocellular carcinoma (HCC) in hepatitis C individuals with cirrhosis if the HCC incidence rate is above 1.5 per 100 person-years (PY). However, the incidence threshold for surveillance in individuals who achieve a virologic cure is unknown. We estimated the HCC incidence rate above which routine HCC surveillance is cost-effective in this growing population of virologically cured hepatitis C individuals with cirrhosis or advanced fibrosis.

Methods: We developed a Markov-based microsimulation model of the natural history of HCC in individuals with hepatitis C who achieved virologic cure with oral direct-acting antivirals. We used …

Corrigendum: Combining Charlson Comorbidity And Vacs Indices Improves Prognostic Accuracy For All-Cause Mortality For Patients With And Without Hiv In The Veterans Health Administration, Kathleen A Mcginnis, Amy C Justice, Vincent C Marconi, Maria C Rodriguez-Barradas, Ronald G Hauser, Krisann K Oursler, Sheldon T Brown, Kendall J Bryant, Janet P Tate

Faculty, Staff and Students Publications

[This corrects the article DOI: 10.3389/fmed.2023.1342466.].

Conduction System Pacing For Heart Failure, Nathan R Smith, Patrick Lynch, Mihail G Chelu

The Texas Heart Institute Journal

No abstract provided.

Effects Of Bioprosthetic Valve Fracturing On Valve-In-Valve Transcatheter Aortic Valve Implantation Transvalvular Gradients, Osama Hallak, Karley Fischer, Shaina Ailawadi, Damian Valencia, Yan Yatsynovich, Raja Nazir, Brian Schwartz

The Texas Heart Institute Journal

BACKGROUND: Valve-in-valve (ViV) transcatheter aortic valve implantation (TAVI) is quickly becoming a routine and effective means by which to treat degenerated bioprosthetic valves. A known complication of ViV-TAVI is patient-prosthesis mismatch, which substantially affects survival. Bioprosthetic valve fracture is a method by which to reduce the risk of patient-prosthesis mismatch and post-ViV-TAVI transvalvular gradients. This study sought to determine the safety and efficacy of post-ViV-TAVI bioprosthetic valve fracture.

METHODS: Patients with a history of surgical aortic valve replacement undergoing ViV-TAVI bioprosthetic valve fracture (N = 25) at the corresponding institution from 2015 to 2022 were cataloged for a retrospective analysis. …

Trpv4 Affects Visual Signals In Photoreceptors And Rod Bipolar Cells, Ye Long, Maxim Kozhemyakin, Samuel M Wu, Ji-Jie Pang

Faculty, Staff and Students Publications

INTRODUCTION: Mechanical sensitive channels expressed in mammalian retinas are effectors of elevated pressure stresses, but it is unclear how their activation affects visual function in pressure-related retinal disorders.

METHODS: This study investigated the role of the transient potential channel vanilloid TRPV4 in photoreceptors and rod bipolar cells (RBCs) with immunohistochemistry, confocal microscopy, electroretinography (ERG), and patch-clamp techniques.

RESULTS: TRPV4 immunoreactivity (IR) was found in the outer segments of photoreceptors, dendrites and somas of PKCα-positive RBCs and other BCs, plexiform layers, and retinal ganglion cells (RGCs) in wild-type mice. TRPV4-IR was largely diminished in the retinas of homozygous TRPV4 transgenic mice. …

The Co-Expression Of The Depolarizing And Hyperpolarizing Mechanosensitive Ion Channels In Mammalian Retinal Neurons, Vivian Y Pang, Zhuo Yang, Samuel M Wu, Ji-Jie Pang

Faculty, Staff and Students Publications

Introduction

The elevation of the intraocular and extraocular pressures is associated with various visual conditions, including glaucoma and traumatic retinal injury. The retina expresses mechanosensitive channels (MSCs), but the role of MSCs in retinal physiology and pathologies has been unclear.

Methods

Using immunocytochemistry, confocal microscopy, and patch-clamp recording techniques, we studied the co-expression of K⁺-permeable (K-MSCs) TRAAK and big potassium channel BK with the epithelial sodium channel ENaC and transient receptor potential channel vanilloid TPRV4 and TRPV2 favorably permeable to Ca²⁺ than Na⁺ (together named N-MSCs), and TRPV4 activity in the mouse retina.

Results

TRAAK immunoreactivity …

Evaluating One-Week Post-Casting Alignment Checks And Surgical Intervention Rates In Pediatric Type Iia Supracondylar Humeral Fractures, Jason Z Amaral, Rebecca J Schultz, Benjamin M Martin, Jacob P Scioscia, Basel Touban, Barkha N Chhabra, Kelly Cline, Scott D Mckay

Faculty, Staff and Students Publications

BACKGROUND: This study aims to determine the rate of surgical intervention in children with type IIA supracondylar humerus fractures (SCHF) following routine post-casting radiographic assessment. We hypothesized that no cases would convert to operative management following one-week post-casting alignment assessments.

METHODS: This single-center retrospective study focused on pediatric patients diagnosed with type IIA SCHF from 2019 to 2022. Patients were treated with initial long arm cast immobilization, followed by a one-week post-casting radiographic alignment check in cast. Fractures were graded in consensus using the Wilkins-Modified Gartland classification system by three fellowship-trained pediatric orthopaedic surgeons. Demographics, casting details, follow-up dates, and …

Patient Questions Surrounding Posterior Nasal Nerve Ablation For Chronic Rhinitis, Daniel Gorelik, Samuel E Razmi, Robert Kenneth Sims, Aatin K Dhanda, Masayoshi Takashima, Ella S Brissett, Nicholas R Rowan, Michael T Yim, Najm Khan, Meha G Fox, Omar G Ahmed

Faculty, Staff and Students Publications

OBJECTIVE: In-office ablation of the posterior nasal nerve (PNN) has emerged as an effective treatment option for chronic rhinitis patients. This study explored questions patients commonly search online regarding this therapy and the quality of content available.

STUDY DESIGN: A retrospective analysis of online search criteria and sources was performed with subsequent analysis of results.

SETTING: Search and data acquisition was in September of 2023.

METHODS: Most common search terms related to cryotherapy and radiofrequency neurolysis of the PNN were identified with associated People Also Ask (PAA) questions. Questions were categorized and organized into subtopics and sources evaluated using readability …

Childhood And Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With T(8;14) And Bcl2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge, Fouad El Dana, Sofia Alexandra Garces Narvaez, Nader K El-Mallawany, Jennifer E Agrusa, Zoann E Dreyer, Andrea N Marcogliese, Mohamed Tarek Elghetany, Jyotinder N Punia, Chi Young Ok, Keyur P Patel, Dolores H Lopez-Terrada, Kevin E Fisher, Choladda V Curry

Faculty, Staff and Students Publications

We present 2 diagnostically challenging cases of pediatric/adolescent relapsed/refractory aggressive mature B-cell non-Hodgkin lymphoma (B-NHL) within the spectrum of Burkitt lymphoma and diffuse large B-cell lymphoma and illustrate the different therapeutic regimens that are employed for pediatric and adult cancer centers. Both cases displayed varying-sized lymphoma cells with occasional single prominent nucleoli and heterogeneous BCL2 expression. Cytogenetics revealed complex karyotypes with t(8:14)(q24.2;q32) and IGH::MYC rearrangement by FISH. Next generation sequencing revealed deleterious TP53 and MYC mutations. We concluded that both could be diagnosed as “DLBCL-NOS with MYC rearrangement” using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World …

Predictive Analytics In Bronchopulmonary Dysplasia: Past, Present, And Future, Bryan G Mcomber, Alvaro G Moreira, Kelsey Kirkman, Sebastian Acosta, Craig Rusin, Binoy Shivanna

Faculty, Staff and Students Publications

Bronchopulmonary dysplasia (BPD) remains a significant complication of prematurity, impacting approximately 18,000 infants annually in the United States. Advances in neonatal care have not reduced BPD, and its management is challenged by the rising survival of extremely premature infants and the variability in clinical practices. Leveraging statistical and machine learning techniques, predictive analytics can enhance BPD management by utilizing large clinical datasets to predict individual patient outcomes. This review explores the foundations and applications of predictive analytics in the context of BPD, examining commonly used data sources, modeling techniques, and metrics for model evaluation. We also highlight bioinformatics' potential role …