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Articles 124891 - 124920 of 1793267

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Opsoclonus In Alternating Hemiplegia Of Childhood Secondary To Atp1a3 Pgly803arg, Alyssa D Runco, Jesse M Levine, Cristina Trandafir, Rod Foroozan, Mered Parnes, Daniel G Calame Jan 2025

Opsoclonus In Alternating Hemiplegia Of Childhood Secondary To Atp1a3 Pgly803arg, Alyssa D Runco, Jesse M Levine, Cristina Trandafir, Rod Foroozan, Mered Parnes, Daniel G Calame

Faculty, Staff and Students Publications

No abstract provided.


A Comparative Analysis Of Hysterectomy Outcomes: Robotic Single-Port Vs Traditional Transvaginal Notes Approaches, Qiannan Yang, Daniel Y Lovell, Juliana Wu, Chunhua Zhang, Xiaoming Guan Jan 2025

A Comparative Analysis Of Hysterectomy Outcomes: Robotic Single-Port Vs Traditional Transvaginal Notes Approaches, Qiannan Yang, Daniel Y Lovell, Juliana Wu, Chunhua Zhang, Xiaoming Guan

Faculty, Staff and Students Publications

Introduction: This study aimed to explore the feasibility and safety of robotic single port vaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) hysterectomy when compared with traditional vaginal natural orifice transluminal endoscopic surgery (T-vNOTES) hysterectomy.

Methods: In this study, the clinical data of 135 patients who underwent RSP-vNOTES or T-vNOTES hysterectomy performed by a single minimally invasive gynecologic surgeon from January 2017 to September 2024 were retrospectively analyzed. Clinical characteristics, surgical outcomes, perioperative complications, and postoperative pain scores were collected and analyzed.

Results: A total of 79 patients underwent T-vNOTES hysterectomy and 56 patients underwent RSP-vNOTES hysterectomy. Compared to the T-vNOTES …


Htr1b Is Necessary For Normal Retinal Function In Mice, Solomon E Gibson, Xiaofeng Tao, Guofu Shen, Justin Ma, Yong H Park, Maria Polo-Prieto, Benjamin J Frankfort Jan 2025

Htr1b Is Necessary For Normal Retinal Function In Mice, Solomon E Gibson, Xiaofeng Tao, Guofu Shen, Justin Ma, Yong H Park, Maria Polo-Prieto, Benjamin J Frankfort

Faculty, Staff and Students Publications

Introduction: Serotonin (5-HT) is a neurotransmitter that is involved in retinal development, physiology, and vision, yet the specific contribution of individual 5-HT receptors to retinal function is poorly characterized. We identified 5-HT receptor 1B (Htr1b) as a potential key regulator of serotonergic signaling in the retina.

Methods: Htr1b localization was examined using RNAseq and in situ labeling. Retinal structure was assessed using histology and SD-OCT. Visual function was evaluated using optomotor behavioral experiments. Retinal function was characterized in vivo using electroretinography (ERG) and ex vivo using multielectrode array (MEA) recordings.

Results: Htr1b transcript and HTR1B protein localized primarily …


The Demodex Expert Panel On Treatment And Eyelid Health (Depth) Consensus Regarding The Preferred Treatment For Demodex Blepharitis, Eric Donnenfeld, Kelly K Nichols, Brandon D Ayres, Marjan Farid, Preeya K Gupta, Richard Lyndon Lindstrom, Stephen Pflugfelder, Christopher E Starr, Nandini Venkateswaran, Ian Benjamin Gaddie, Paul M Karpecki, Cecelia Koetting, Selina Mcgee, Laura M Periman, Elizabeth Yeu Jan 2025

The Demodex Expert Panel On Treatment And Eyelid Health (Depth) Consensus Regarding The Preferred Treatment For Demodex Blepharitis, Eric Donnenfeld, Kelly K Nichols, Brandon D Ayres, Marjan Farid, Preeya K Gupta, Richard Lyndon Lindstrom, Stephen Pflugfelder, Christopher E Starr, Nandini Venkateswaran, Ian Benjamin Gaddie, Paul M Karpecki, Cecelia Koetting, Selina Mcgee, Laura M Periman, Elizabeth Yeu

Faculty, Staff and Students Publications

Purpose: To reach consensus on Demodex blepharitis (DB) treatment approaches using a modified Delphi process involving 15 ocular surface disease experts.

Methods: The Demodex Expert Panel on Treatment and Eyelid Health (DEPTH) consisted of 15 well-published ocular surface disease experts. Panelists completed two online surveys, a live consensus meeting, and a follow-up survey. The surveys consisted of scaled and multiple-choice questions related to the clinical and patient-reported outcomes of DB and its treatment. For the scaled questions using a 1 to 9 Likert scale, consensus was defined as weighted mean scores of 1-3 and 7-9, whereas for multiple-choice questions, consensus …


A Natural Small Molecule Isoginkgetin Alleviates Hypercholesterolemia And Atherosclerosis By Targeting Acly, Zhidan Zhang, Meijie Chen, Yitong Xu, Zhihua Wang, Zhenghong Liu, Chenyang He, Fanshun Zhang, Xiaojun Feng, Xiayun Ni, Yuanli Chen, Jixia Wang, Xinmiao Liang, Zhifu Xie, Jingya Li, Maciej Banach, Jaroslav Pelisek, Yuqing Huo, Yunhui Hu, Paul C Evans, Li Wang, Xiao-Yu Tian, Jianbo Xiao, Yuhua Shang, Yijun Zheng, Xunde Xian, Jianping Weng, Suowen Xu Jan 2025

A Natural Small Molecule Isoginkgetin Alleviates Hypercholesterolemia And Atherosclerosis By Targeting Acly, Zhidan Zhang, Meijie Chen, Yitong Xu, Zhihua Wang, Zhenghong Liu, Chenyang He, Fanshun Zhang, Xiaojun Feng, Xiayun Ni, Yuanli Chen, Jixia Wang, Xinmiao Liang, Zhifu Xie, Jingya Li, Maciej Banach, Jaroslav Pelisek, Yuqing Huo, Yunhui Hu, Paul C Evans, Li Wang, Xiao-Yu Tian, Jianbo Xiao, Yuhua Shang, Yijun Zheng, Xunde Xian, Jianping Weng, Suowen Xu

Faculty, Staff and Students Publications

Rationale: Atherosclerotic cardiovascular disease (ASCVD) represents the predominant cause of mortality and morbidity globally. Given the established role of hypercholesterolemia as a significant risk factor for ASCVD, the discovery of new lipid-lowering medications is of paramount importance. ATP citrate lyase (ACLY) is a crucial enzyme in cellular metabolism, providing acetyl-CoA as the building block for the biosynthesis of fatty acids and cholesterol. Consequently, it has emerged as a promising drug target for innovative treatments of lipid metabolic disorders.

Methods: Virtual screening of a natural product library was performed to identify small-molecule ACLY inhibitors, leading to the discovery of isoginkgetin (ISOGK). …


Syndromic Forms Of Inherited Retinal Dystrophies: A Comprehensive Molecular Diagnosis Of Consanguineous Pakistani Families Using Capture Panel Sequencing, Aleesha Asghar, Sumbal Wazir, Shehzeen Fatima, Hussan Bilal, Muhammad Shoaib, Saqib Ur Rehman, Sumaira Altaf, Yumei Li, Kiran Afshan, Rui Chen, Sabika Firasat Jan 2025

Syndromic Forms Of Inherited Retinal Dystrophies: A Comprehensive Molecular Diagnosis Of Consanguineous Pakistani Families Using Capture Panel Sequencing, Aleesha Asghar, Sumbal Wazir, Shehzeen Fatima, Hussan Bilal, Muhammad Shoaib, Saqib Ur Rehman, Sumaira Altaf, Yumei Li, Kiran Afshan, Rui Chen, Sabika Firasat

Faculty, Staff and Students Publications

Background: Inherited retinal dystrophies (IRDs) represent a clinically and genetically heterogeneous group of genetic disorders that involve photoreceptors and/or retinal pigment epithelium degeneration. IRDs may occur as an isolated condition or may represent an ocular manifestation of a multisystemic disorder referred as syndromic IRD. To increase the understanding of the molecular determinants of syndromic IRD-related genes in the Pakistani population, we revealed the genetic profile of 13 consanguineous Pakistani families using capture panel sequencing.

Methods: We performed comprehensive molecular testing on 72 IRD segregating Pakistani families using targeted capture panel sequencing of 344 known genes. The pathogenicity of candidate variants …


Resilience As Accusation: A Critical Examination Of Individual Resilience Training For Burnout Mitigation, Jacqueline Christianson, Bonnie Sommers-Olson, Jessica Leiberg, Dana Kaminstein Jan 2025

Resilience As Accusation: A Critical Examination Of Individual Resilience Training For Burnout Mitigation, Jacqueline Christianson, Bonnie Sommers-Olson, Jessica Leiberg, Dana Kaminstein

College of Nursing Faculty Research and Publications

Burnout, a syndrome of work-related exhaustion and cynicism, is prevalent among nurses and is associated with workplace stressors. Resilience training programs are a prevalent method of burnout mitigation employed by healthcare institutions that aim to improve or alter how individuals respond to chronic stressors. Through the lens of General Systems Theory, we describe resilience training as a method of individualizing a systemic problem by problematizing a response to chronic stress exposure. Resilience training may furthermore serve as a mechanism which allows subversion of institutional responsibility for nurses’ well-being in the workplace. We describe several suggestions for nurses to resist being …


Health Equity And Children With Medical Complexity/Children And Youth With Special Health Care Needs: A Scoping Review, Elizabeth A. Flasch Jan 2025

Health Equity And Children With Medical Complexity/Children And Youth With Special Health Care Needs: A Scoping Review, Elizabeth A. Flasch

College of Nursing Faculty Research and Publications

Children with medical complexity (CMC) and children and youth with special health care needs (CYSHCN), compared with the general population, engage with the health care system at increased rates, at multiple life stages, and for a myriad of reasons (Berry et al., 2015). Operational definitions of CMC and CYSHCN are very limited, with the terms conflated and differentiated across the literature. Because of the lack of standardized definitions and general conflation of the two terms across the literature, CMC and CYSHCN will be used interchangeably for this review. Allshouse et al. (2018) defined CMC as a subset of CYSHCN “as …


Global Consensus On Optimal Exercise Recommendations For Enhancing Healthy Longevity In Older Adults (Icsfr), Mikel Izquierdo, Philipe De Souto Barreto, Hidenori Arai, Heike A Bischoff-Ferrari, Eduardo L Cadore, Matteo Cesari, Liang-Kung Chen, Paul M Coen, Kerry S Courneya, Gustavo Duque, Luigi Ferrucci, Roger A Fielding, Antonio García-Hermoso, Luis Miguel Gutiérrez-Robledo, Stephen D R Harridge, Ben Kirk, Stephen Kritchevsky, Francesco Landi, Norman Lazarus, Teresa Liu-Ambrose, Emanuele Marzetti, Reshma A Merchant, John E Morley, Kaisu H Pitkälä, Robinson Ramírez-Vélez, Leocadio Rodriguez-Mañas, Yves Rolland, Jorge G Ruiz, Mikel L Sáez De Asteasu, Dennis T Villareal, Debra L Waters, Chang Won Won, Bruno Vellas, Maria A Fiatarone Singh Jan 2025

Global Consensus On Optimal Exercise Recommendations For Enhancing Healthy Longevity In Older Adults (Icsfr), Mikel Izquierdo, Philipe De Souto Barreto, Hidenori Arai, Heike A Bischoff-Ferrari, Eduardo L Cadore, Matteo Cesari, Liang-Kung Chen, Paul M Coen, Kerry S Courneya, Gustavo Duque, Luigi Ferrucci, Roger A Fielding, Antonio García-Hermoso, Luis Miguel Gutiérrez-Robledo, Stephen D R Harridge, Ben Kirk, Stephen Kritchevsky, Francesco Landi, Norman Lazarus, Teresa Liu-Ambrose, Emanuele Marzetti, Reshma A Merchant, John E Morley, Kaisu H Pitkälä, Robinson Ramírez-Vélez, Leocadio Rodriguez-Mañas, Yves Rolland, Jorge G Ruiz, Mikel L Sáez De Asteasu, Dennis T Villareal, Debra L Waters, Chang Won Won, Bruno Vellas, Maria A Fiatarone Singh

Faculty, Staff and Students Publications

Aging, a universal and inevitable process, is characterized by a progressive accumulation of physiological alterations and functional decline over time, leading to increased vulnerability to diseases and ultimately mortality as age advances. Lifestyle factors, notably physical activity (PA) and exercise, significantly modulate aging phenotypes. Physical activity and exercise can prevent or ameliorate lifestyle-related diseases, extend health span, enhance physical function, and reduce the burden of non-communicable chronic diseases including cardiometabolic disease, cancer, musculoskeletal and neurological conditions, and chronic respiratory diseases as well as premature mortality. Physical activity influences the cellular and molecular drivers of biological aging, slowing aging rates-a foundational …


Assessing Family Caregiver Readiness For Hospital Discharge Of Patients With Serious Or Life-Limiting Illness Using Electronic Health Record And Self-Reported Data, Joan M. Griffin, Diane E. Holland, Catherine E. Vanderboom, Brystana G. Kaufman, Allison M. Gustavson, Jeanine Ransom, Jay Mandrekar, Ann Marie Dose, Cory Ingram, Zhi Ven Fong, Ellen Wild, Marianne E. Weiss Jan 2025

Assessing Family Caregiver Readiness For Hospital Discharge Of Patients With Serious Or Life-Limiting Illness Using Electronic Health Record And Self-Reported Data, Joan M. Griffin, Diane E. Holland, Catherine E. Vanderboom, Brystana G. Kaufman, Allison M. Gustavson, Jeanine Ransom, Jay Mandrekar, Ann Marie Dose, Cory Ingram, Zhi Ven Fong, Ellen Wild, Marianne E. Weiss

College of Nursing Faculty Research and Publications

Objective

To assess how patient and caregiver factors influence caregiver readiness for hospital discharge in palliative care patients.

Study Setting and Design

This transitional care study uses cross-sectional data from a randomized controlled trial conducted from 2018 to 2023 testing an intervention for caregivers of hospitalized adult patients with a serious or life-limiting illness who received a palliative care consult prior to transitioning out of the hospital.

Data Sources and Analytical Sample

Caregiver readiness was measured with the Family Readiness for Hospital Discharge Scale (n = 231). Caregiver demographic, intra- and interpersonal factors were self-reported. Patient demographic, comorbidity score, …


Sex Work Patterns Among Transgender And Gender Diverse People: A Latent Class Analysis, Madeline Stenersen, Anjum Umrani, Irelan Fricke, Jessica L. Zemlak Jan 2025

Sex Work Patterns Among Transgender And Gender Diverse People: A Latent Class Analysis, Madeline Stenersen, Anjum Umrani, Irelan Fricke, Jessica L. Zemlak

College of Nursing Faculty Research and Publications

Sex work is a diverse profession encompassing a broad range of people, and services. Though overrepresented in sex work communities, transgender and gender diverse (TGD) individuals are underrepresented in sex work literature. Further, sex work literature continues to underrepresent the heterogeneity evident in the sex work community and the practices that occur within it. The present study utilized data from the 2015 United States Transgender Survey (USTS) to conduct a latent class analysis (LCA) to identify patterns of different types of sex work among TGD adults (N = 2,153) and understand the demographic characteristics associated with engagement in different types …


Paternal Upd (15) With Disease-Causing Mutation And Small Supernumerary Ring Chromosome 15: A Case Report, David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia Jan 2025

Paternal Upd (15) With Disease-Causing Mutation And Small Supernumerary Ring Chromosome 15: A Case Report, David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia

Faculty, Staff and Students Publications

Uniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities. This report centers on a patient diagnosed with Bartter syndrome Type 1, attributed to a homozygous pathogenic variant in SLC12A1 unmasked by mosaic paternal UPD of chromosome 15. We hypothesize that this pattern (or constellation) emerged from a trisomy rescue event, resulting in two distinct cell lines. Concurrently, the unmasking of a pathogenic paternal SLC12A1 variant by trisomy rescue resulted in the manifestation of Bartter syndrome Type 1. The maternally derived ring chromosome 15 and its impact on …


Stated Preference Research In Otolaryngology: A Scoping Review, Lucy Xu, Molly N Huston, Victoria S Lee, John D Cramer, Deborah Goss, Matthew R Naunheim Jan 2025

Stated Preference Research In Otolaryngology: A Scoping Review, Lucy Xu, Molly N Huston, Victoria S Lee, John D Cramer, Deborah Goss, Matthew R Naunheim

2020-Current year OA Pubs

OBJECTIVE: Stated preference research methods, including discrete choice experiments (DCEs), conjoint analysis (CA), best-worst scaling (BWS), and willingness-to-pay/contingent valuation (WTP/CV) studies, are excellent tools for understanding patient preferences in healthcare. Their application in otolaryngology has yet to be described. This work encompasses a scoping review assessing the field of stated preference research in otolaryngology, to identify gaps in the current literature and identify areas of future applications of such methodologies.

DATA SOURCES: Embase, Medline, and Web of Science.

REVIEW METHODS: A search of three databases for all relevant publications through 2023 was performed using relevant search terms. Eligibility criteria for …


Protocol For The Asian Cohort For Alzheimer's Disease (Acad) Study, Pei-Chuan Ho, Walter A Kukull, Et Al. Jan 2025

Protocol For The Asian Cohort For Alzheimer's Disease (Acad) Study, Pei-Chuan Ho, Walter A Kukull, Et Al.

2020-Current year OA Pubs

INTRODUCTION: To address knowledge gaps in Alzheimer's disease (AD) research, the Asian Cohort for Alzheimer's Disease (ACAD) Study will recruit over 5000 participants of Asian descent aged 60 or older in the United States and Canada. The current focus is on participants with Chinese, Korean, or Vietnamese ancestry, with the goal of characterizing both genetic and non-genetic risk factors. ACAD has assembled a culturally and linguistically appropriate data collection protocol, as well as a biosample collection protocol. Recruitment strategies follow community-based participatory research (CBPR) approaches to encourage research participation and engage Asian communities in brain health education.

METHODS: The ACAD …


The Munster Statement Om Principerna För Forskningsetik Och Forskningsintegritet (Swedish), Ingenium Jan 2025

The Munster Statement Om Principerna För Forskningsetik Och Forskningsintegritet (Swedish), Ingenium

Dissemination

INGENIUM är en allians av tio lärosäten från tio europeiska länder. Europauniversitetet strävar efter att göra det möjligt för varje medlem i nätverket att erbjuda högkvalitativa studie- och kvalifikationsprogram med digitala komponenter som delas inom INGENIUM Alliance.

Vid universitet och högskolor läggs allt större vikt vid att främja god forskningssed inom alla aspekter av forskning1,2, inräknat allt från grundforskning till tillämpad forskning och kommersialisering. Forskningsetik (FE) och forskningsintegritet (FI) stödjer forskningsverksamhet och excellens och anses utgöra en viktig grund för att forskare ska kunna lita på varandra och på forskningsresultaten3 samt stärka allmänhetens förtroende för vetenskap och vetenskapliga resultat4. Men …


The Munster Statement On The Principles Of Research Ethics And Research Integrity (English), Ingenium Jan 2025

The Munster Statement On The Principles Of Research Ethics And Research Integrity (English), Ingenium

Dissemination

INGENIUM is an alliance of ten institutions of higher education from ten European countries. This European University seeks to enable each member of the network to offer high-quality study and qualification programmes with digital components that are shared within the INGENIUM Alliance.

In Higher Education Institutions there is a growing emphasis on promoting good research practices in all aspects of research1,2, including everything from fundamental research to applied research to commercialisation. Research ethics (RE) and research integrity (RI) underpin research activity and excellence and are considered a critical component of the basis for researchers to trust each other as well …


Influence Of Preoperative Blood Pressure On Postoperative Bleeding Complications Following Mohs Micrographic Surgery, Riyad N H Seervai, Sarah K Friske, Emily Powell, Ida F Orengo, Ikue Shimizu, Suzanne Alkul Jan 2025

Influence Of Preoperative Blood Pressure On Postoperative Bleeding Complications Following Mohs Micrographic Surgery, Riyad N H Seervai, Sarah K Friske, Emily Powell, Ida F Orengo, Ikue Shimizu, Suzanne Alkul

Faculty, Staff and Students Publications

Background: Hypertension is a common comorbidity in patients undergoing Mohs micrographic surgery (MMS). Evidence in other surgical fields has suggested that high blood pressure increases the risk of perioperative bleeding, predisposing patients to complications such as hematomas, dehiscence, wound infection, and necrosis.

Methods: We reviewed medical charts of all 530 patients who underwent MMS at our institution in one calendar year to identify whether an association exists between preoperative blood pressure and bleeding outcomes in patients undergoing MMS.

Results: Perioperative variables, including history of diagnosed hypertension, preoperative systolic blood pressure >160 mm Hg, systolic blood pressure >180 mm Hg, anticoagulation/antiplatelet …


Η Δήλωση Munster Για Τις Αρχές Δεοντολογίας Της Έρευνας Και Ακεραιότητας Της Έρευνας (Greek), Ingenium Jan 2025

Η Δήλωση Munster Για Τις Αρχές Δεοντολογίας Της Έρευνας Και Ακεραιότητας Της Έρευνας (Greek), Ingenium

Dissemination

Το INGENIUM είναι μια συμμαχία δέκα ιδρυμάτων τριτοβάθμιας εκπαίδευσης που εκτείνονται σε ισάριθμες ευρωπαϊκές χώρες. Αυτό το Ευρωπαϊκό Πανεπιστήμιο επιδιώκει να καταστήσει ικανό κάθε μέλος του δικτύου να προσφέρει υψηλής ποιότητας προγράμματα σπουδών και κατάρτισης με ψηφιακές συνιστώσες που είναι κοινά στο πλαίσιο της συμμαχίας INGENIUM.

Στην τριτοβάθμια εκπαίδευση σημειώνεται αυξανόμενη έμφαση στην προώθηση ορθών ερευνητικών πρακτικών σε όλες τις πτυχές της έρευνας1,2, συμπεριλαμβανομένων όλων των τομέων από τη βασική έως την εφαρμοσμένη έρευνα και την εμπορική εκμετάλλευσή της. Η δεοντολογία της έρευνας (ΔτΕ) και η ακεραιότητα της έρευνας (ΑτΕ) στηρίζουν την ερευνητική δραστηριότητα και την αριστεία και θεωρούνται κρίσιμες …


Munsterin Julkilausuma Tutkimusetiikan Ja Hyvän Tieteellisen Käytännön Periaatteista (Finnish), Ingenium Jan 2025

Munsterin Julkilausuma Tutkimusetiikan Ja Hyvän Tieteellisen Käytännön Periaatteista (Finnish), Ingenium

Dissemination

INGENIUM on kymmenen Eurooppalaisen korkeakoulun verkosto, joka antaa verkoston jäsenille mahdollisuuden tarjota korkealaatuista koulutusta, hyödyntäen INGENIUM-allianssin yhteisiä digitaalisia opintokokonaisuuksia.

Korkeakouluissa painotetaan yhä enemmän hyvien tutkimuskäytäntöjen edistämistä kaikilla tutkimuksen osa-alueilla1,2 perustutkimuksesta soveltavaan tutkimukseen ja kaupallistamiseen. Tutkimusetiikka ja hyvä tieteelinen käytäntö tukevat tutkimustoimintaa ja huippuosaamista, ja niitä pidetään tärkeänä osana tutkimuksen perustaa, jonka avulla tutkijat luottavat toisiinsa ja tutkimusansioihin 3ja vahvistavat yleisön luottamusta tieteeseen ja tieteellisiin tuloksiin4. Koska ohjeita on kuitenkin lukuisia, on välttämätöntä laatia lausunto, joka mahdollistaa johdonmukaisen lähestymistavan tutkimusetiikkaan ja hyvään tieteelliseen käytäntöön koko INGENIUMissa.

Koska tutkimusetiikka ja hyvä tieteellinen käytäntö ovat merkityksellisiä kaikkien tieteenalojen tutkimuksessa, on erityisen tärkeää, että …


Experiences From Dual Genome Next-Generation Sequencing Panel Testing For Mitochondrial Disorders: A Comprehensive Molecular Diagnosis, Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C Y Chen, Fan Xia, Linyan Meng, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M Eng, Yue Wang Jan 2025

Experiences From Dual Genome Next-Generation Sequencing Panel Testing For Mitochondrial Disorders: A Comprehensive Molecular Diagnosis, Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C Y Chen, Fan Xia, Linyan Meng, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M Eng, Yue Wang

Faculty, Staff and Students Publications

Introduction: The molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associated with mitochondrial disease provides the highest likelihood of obtaining a comprehensive molecular diagnosis. To assess the clinical utility of this approach, we describe the results from a retrospective review of patients having dual genome panel testing for mitochondrial disease.

Methods: Dual genome panel testing by NGS was performed on a cohort of 1,509 unrelated affected individuals with suspected mitochondrial disorders. This test included …


Genetic Newborn Screening For Retinoblastoma: A Belgian Initiative Baby Detect, Daniel A Rodriguez, Alex Song, Anshul Bhatnagar, Christina Y Weng Jan 2025

Genetic Newborn Screening For Retinoblastoma: A Belgian Initiative Baby Detect, Daniel A Rodriguez, Alex Song, Anshul Bhatnagar, Christina Y Weng

Faculty, Staff and Students Publications

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at …


High Tumor Cd161 Expression Predicts A Survival Advantage And Marks A Th1-Skewed Microenvironment, Briana Amicarella Burns, Manasvi Chandra, Vanaja Konduri, William K Decker Jan 2025

High Tumor Cd161 Expression Predicts A Survival Advantage And Marks A Th1-Skewed Microenvironment, Briana Amicarella Burns, Manasvi Chandra, Vanaja Konduri, William K Decker

Faculty, Staff and Students Publications

CD8+CD161+ T-cells exhibit augmented memory and cytolytic properties, mediating enhanced immunity in murine tumor models and improved survival in human non-small cell lung cancer. This T-cell subset might serve as a biomarker of positive response to therapy or even be isolated to augment current immunotherapeutic approaches yet limited knowledge of CD161 expression in human cancers restricts practical application. Here we bioinformatically tested the hypothesis that CD161 expression may be associated with positive outcomes in human cancers and investigated mechanisms underlying any observed advantages. Using TCGA-PANCAN dataset, we analyzed expression of CD161 in over 10,000 human tumors, correlating expression levels with …


The Reprogramming Factor Klf4 In Normal And Malignant Blood Cells, H Daniel Lacorazza Jan 2025

The Reprogramming Factor Klf4 In Normal And Malignant Blood Cells, H Daniel Lacorazza

Faculty, Staff and Students Publications

The Krüppel-like factor 4 (KLF4) is an evolutionarily conserved zinc finger transcription factor that regulates cellular processes in stem cells, epithelial cells, and immune blood cells by controlling gene expression through genetic, epigenetic, and chromatin remodeling. The landmark 2006 publication identified KLF4 as one of the factors involved in reprogramming differentiated cells into pluripotent stem cells, sparking increased interest in KLF4 research a decade after its discovery, particularly in the fields of stem cell research, epithelial cell biology, endothelial cell function, and tumorigenesis. Over the years, KLF4 has emerged as a key transcription factor in modulating innate and adaptive immunity, …


Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mili Vakharia, Sarah K Lyons, Don Buckingham, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim Jan 2025

Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mili Vakharia, Sarah K Lyons, Don Buckingham, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim

Faculty, Staff and Students Publications

Introduction: Insulin pump therapy is recommended for youth with type 1 diabetes (T1D) as it enhances quality of life and improves glycemic management. We led a quality improvement initiative to increase insulin pump use in youth younger than 18 years of age with recently diagnosed T1D (duration < 1 y) from a baseline of 17% to 27% from January 2021 to December 2023. As a balancing measure, we evaluated the diabetes-related ketoacidosis (DKA) rate in the same cohort as nonpump users.

Methods: We implemented the following plan-do-study-act cycles: (1) development and implementation of pump initiation algorithm, including minimal safe start criteria and education on ketosis management with pump action plan, (2) establishing clinic follow-up within 90 days of pump start, (3) expansion of the pump algorithm at additional clinic locations, (4) early patient/caregiver education …


Prospective Multicenter Longitudinal Measurement Of Liver Stiffness In School-Age Children With Cholestatic Liver Disease, Benjamin L Shneider, Nathan P Goodrich, Wen Ye, Jean P Molleston, Daniel H Leung, Ronald J Sokol, Laurel Cavallo, Kasper Wang, Pamela L Valentino, Jeffery H Teckman, James E Squires, Shikha S Sundaram, Philip Rosenthal, Rene Romero, Alexander G Miethke, Kathleen M Loomes, Rohit Kohli, Saul J Karpen, Binita M Kamath, M Kyle Jensen, Jorge A Bezerra, Lee M Bass, John C Magee, Children Jan 2025

Prospective Multicenter Longitudinal Measurement Of Liver Stiffness In School-Age Children With Cholestatic Liver Disease, Benjamin L Shneider, Nathan P Goodrich, Wen Ye, Jean P Molleston, Daniel H Leung, Ronald J Sokol, Laurel Cavallo, Kasper Wang, Pamela L Valentino, Jeffery H Teckman, James E Squires, Shikha S Sundaram, Philip Rosenthal, Rene Romero, Alexander G Miethke, Kathleen M Loomes, Rohit Kohli, Saul J Karpen, Binita M Kamath, M Kyle Jensen, Jorge A Bezerra, Lee M Bass, John C Magee, Children

Faculty, Staff and Students Publications

Background and aims: A multicenter prospective longitudinal study of vibration-controlled transient elastography (VCTE) in school-age children with biliary atresia (BA), alpha-1 antitrypsin deficiency (a1-AT) and Alagille syndrome (ALGS) was undertaken to test the hypothesis that there would be measurable disease progression over 2 years.

Methods: Vibration-controlled transient elastography was performed annually for 2 years in children with BA, a1-AT and ALGS.

Results: Valid liver stiffness measurement (LSM) was determined at baseline/second follow-up in 254/180 (71%), 104/58 (56%) and 100/61 (61%) participants (mean elapsed time 2.27 years) with BA, a1-AT and ALGS, respectively. Modeling did not reveal a relationship between LSM …


Detection Of Viral Rna And Dna And Immune Response Following Administration Of Live Attenuated Measles And Varicella Vaccines In Children With Chronic Liver Disease, Sarah Kemme, Jennifer D Canniff, Krystle M Garth, Shaobing Li, Krupa Mysore, Adriana Weinberg, Amy G Feldman Jan 2025

Detection Of Viral Rna And Dna And Immune Response Following Administration Of Live Attenuated Measles And Varicella Vaccines In Children With Chronic Liver Disease, Sarah Kemme, Jennifer D Canniff, Krystle M Garth, Shaobing Li, Krupa Mysore, Adriana Weinberg, Amy G Feldman

Faculty, Staff and Students Publications

Infections preventable by live virus vaccines are surging in the setting of decreased herd immunity. Many children with chronic liver diseases (CLDs) are unimmunized and at increased risk for infection due to guidelines recommending against live vaccines within 4 weeks pretransplant. This prospective study of 21 children with CLD and 13 healthy controls defined the timing of measles virus and varicella-zoster virus (VZV) RNA- and DNA-emia following vaccination and compared immune responses to measles and varicella vaccines in both groups. Measles virus RNA and VZV DNA real-time PCR were measured weekly following vaccination; measles virus RNA was undetectable in all …


Eradication Rates Of Empiric Helicobacter Pylori Treatment Regimens By Race/Ethnicity In A Predominantly Immigrant Us Population, Min J Kim, Isiah Gonzalez, Nia M Choi, David Y Graham, Hashem B El-Serag, Mimi C Tan Jan 2025

Eradication Rates Of Empiric Helicobacter Pylori Treatment Regimens By Race/Ethnicity In A Predominantly Immigrant Us Population, Min J Kim, Isiah Gonzalez, Nia M Choi, David Y Graham, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

Background: Helicobacter pylori infections are mostly treated empirically (without antibiotic susceptibility testing). Determining eradication rates of different treatment regimens can inform antibiotic resistance. Our aim was to examine eradication rates of empiric H. pylori treatments based on treatment regimen, race/ethnicity and previous treatment status in a multiethnic U.S.

Materials and methods: This was a retrospective cross-sectional study of patients with a positive H. pylori test from 7/2021 to 4/2022 at Harris Health (Houston, Texas) who had received treatment and eradication testing within 1 year. We compared eradication rates based on treatment regimen, race/ethnicity, and prior treatment and examined other possible …


Interval Advanced Adenomas And Neoplasia In Patients With Negative Colonoscopy Following Positive Stool-Based Colorectal Cancer Screening Test, Kyle S Liu, Rollin George, Caleb Shin, Jia Q Xiong, Taher Jamali, Yan Liu, Priya Roy, Sonia Singh, Samuel Ma, Hashem B El-Serag, Mimi C Tan Jan 2025

Interval Advanced Adenomas And Neoplasia In Patients With Negative Colonoscopy Following Positive Stool-Based Colorectal Cancer Screening Test, Kyle S Liu, Rollin George, Caleb Shin, Jia Q Xiong, Taher Jamali, Yan Liu, Priya Roy, Sonia Singh, Samuel Ma, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

BACKGROUND/AIMS: Fecal occult blood test (FOBT) and fecal immunohistochemical test (FIT) are used for colorectal cancer (CRC) screening. However, when no adenomas are found following a positive FOBT/FIT, the future risk of advanced adenomas or colorectal cancer (CRC) is unclear. We determined the incidence and determinants of advanced adenomas or CRC after a negative index colonoscopy following a positive FOBT/FIT.

METHODS: We identified patients in the Harris Health System (Houston, Texas) who underwent a colonoscopy following a positive FOBT/FIT from 01/2010 to 01/2013. We compared the incidence rates of advanced adenomas (≥ 1 cm, villous histopathology, or high-grade dysplasia) or …


Resilience Of The Gut Microbiome To Short Proton Pump Inhibitor Therapy With Or Without High-Dosage L Reuteri In H Pylori-Infected Adults, Stefano Bibbò, Gustav Ahlström, Giovanni Mario Pes, David Y Graham, Lars Engstrand, Elettra Merola, Maria Pina Dore Jan 2025

Resilience Of The Gut Microbiome To Short Proton Pump Inhibitor Therapy With Or Without High-Dosage L Reuteri In H Pylori-Infected Adults, Stefano Bibbò, Gustav Ahlström, Giovanni Mario Pes, David Y Graham, Lars Engstrand, Elettra Merola, Maria Pina Dore

Faculty, Staff and Students Publications

Background: Helicobacter pylori eradication therapy typically consists of a combination of antibiotics and an antisecretory drug. Probiotics may be added to reduce side effects and possibly improve outcomes.

Materials and methods: We conducted a double-blind, randomized trial of pantoprazole plus either Lactobacillus reuteri (Gastrus) (high dose) or a matching placebo to assess the impact on the gut microbiota of H. pylori-positive adults. Fecal samples were collected at baseline and after one and 2 months for shotgun metagenomic sequencing.

Results: A total of 26 patients were recruited and completed therapy. L. reuteri was only detected in the group that received supplemental …


Screening And Targeted Sequencing Of Stool For Microbiologic Confirmation And Drug Resistance Determination In Paucibacillary Tuberculosis, Tara E Ness, Mangaliso Ziyane, Nontobeko Maphalala, Abigail Seeger, Anca Vasiliu, Wethusonke Khumalo, Mdigo Thunzini, Sindisiwe Dlamini, Gugu Maphalala, Clement Gascua, Christoph Lange, Samantha Meyer, Bryce Inman, Viola Dreyer, Christian Utpatel, Tanja Niemann, Andrew Dinardo, Alexander Kay, Stefan Niemann, Anna Mandalakas Jan 2025

Screening And Targeted Sequencing Of Stool For Microbiologic Confirmation And Drug Resistance Determination In Paucibacillary Tuberculosis, Tara E Ness, Mangaliso Ziyane, Nontobeko Maphalala, Abigail Seeger, Anca Vasiliu, Wethusonke Khumalo, Mdigo Thunzini, Sindisiwe Dlamini, Gugu Maphalala, Clement Gascua, Christoph Lange, Samantha Meyer, Bryce Inman, Viola Dreyer, Christian Utpatel, Tanja Niemann, Andrew Dinardo, Alexander Kay, Stefan Niemann, Anna Mandalakas

Faculty, Staff and Students Publications

In 2023, an estimated 10.8 million people developed tuberculosis, and 1.25 million people died from this disease, including 161,000 deaths in people with HIV (PWH) in whom tuberculosis remains the leading cause of death. Detecting Mycobacterium tuberculosis drug resistance remains a challenge among patients with paucibacillary tuberculosis; since there is such low bacterial load in their sputum it's unable to be detected via microscopy, there is also not enough bacteria for other sputum-based tests which could provide resistance testing. At an outpatient clinic in Eswatini from 2020-2023, stool and sputum samples were provided by a subset of children, adolescents, and …