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2022

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Articles 18781 - 18810 of 23774

Full-Text Articles in Medicine and Health Sciences

Nature Effects On Stress, Jaclyn Griffith Jan 2022

Nature Effects On Stress, Jaclyn Griffith

Graduate Research Projects

No abstract provided.


Obstructive Sleep Apnea And Cardiovascular Disease, Evan Gagnon Jan 2022

Obstructive Sleep Apnea And Cardiovascular Disease, Evan Gagnon

Graduate Research Projects

No abstract provided.


Effective Occupational Therapy Interventions For Reducing Parental Stress In The Neonatal Intensive Care Unit, Ann Landreville, Annah Greenmyer, Makayla Murden Jan 2022

Effective Occupational Therapy Interventions For Reducing Parental Stress In The Neonatal Intensive Care Unit, Ann Landreville, Annah Greenmyer, Makayla Murden

Critically Appraised Topics

John et al.’s (2018) study found that over half of the mothers in the NICU suffer from moderate to severe anxiety. This anxiety negatively impacts parents’ abilities to engage in the occupation of caring for their child, which can have long-term consequences. Currently, there is a lack of research on occupational therapy-specific interventions that focus on reducing parental stress in the NICU setting. The purpose of this critically appraised topic (CAT) is to discover which stress-reducing occupational therapy interventions have a positive impact on the abilities of parents to successfully care for their infants in the NICU.


Comparison Of Effects Of Sleep Fragmentation On Pro-Inflammatory Cytokine Il-1Β Of Male And Female Adult Mice, Manzar Rzayeva Jan 2022

Comparison Of Effects Of Sleep Fragmentation On Pro-Inflammatory Cytokine Il-1Β Of Male And Female Adult Mice, Manzar Rzayeva

Mahurin Honors College Capstone Experience/Thesis Projects

Sleep plays an essential role throughout the body by affecting the physiological function and regulation of many systems. One of these systems that receives effects as a result of the adequacy of sleep is the immune system. Previous studies have demonstrated effects of sleep fragmentation upon the immune system; however, sexual differences of these effects have not been studied in depth. To analyze these variances amongst the genders, male and female adult mice were subjected to acute sleep fragmentation (SF) for 24 hours in an automated SF cage that includes a bar sweeping across the cage every two minutes. Meanwhile, …


Understanding The Mental And Emotional Impacts Of Being A Caregiver Of Socially Isolated Residents During The Covid-19 Pandemic, Chloe Kerrick Jan 2022

Understanding The Mental And Emotional Impacts Of Being A Caregiver Of Socially Isolated Residents During The Covid-19 Pandemic, Chloe Kerrick

Mahurin Honors College Capstone Experience/Thesis Projects

The mental health and emotional wellbeing of individuals has declined in many ways over the course of the COVID-19 pandemic. Some groups have seen more drastic changes in their mental health and emotional wellbeing, especially those working in healthcare. While nearly all healthcare facility workers have experienced an increased burden brought about by the pandemic, long-term care facility workers have been tasked with caring for clients that, for periods of time, experienced complete social isolation. This project will attempt to answer the question of how caring for a group of socially isolated residents over an extended period has affected the …


A Pilot Study: An Evaluation Of Accessibility Of Resources For Parents Of D/Deaf/Hoh Children In Ky/Tn, Amara Danturthi Jan 2022

A Pilot Study: An Evaluation Of Accessibility Of Resources For Parents Of D/Deaf/Hoh Children In Ky/Tn, Amara Danturthi

Mahurin Honors College Capstone Experience/Thesis Projects

Most parents of d/Deaf/Hoh children are not Deaf, making it imperative for easy access to diverse strategies to ensure smooth communication between them and their child. Parents make the paramount decision of what their child’s first language should be, therefore, access to current information on communication strategies is crucial in this journey. Many families fall on resources sometimes from sources in different formats to understand what may work best for them. The accessibility and availability of these resources are a crucial component in the parent’s decision-making process. Due to the unique dynamics between hearing parents and d/Deaf/Hoh children, this pilot …


Three Waves: The United States Opioid Crisis, Ryan B. Santoro Jan 2022

Three Waves: The United States Opioid Crisis, Ryan B. Santoro

Senior Scholars Papers in Science, Technology, and Society

The past two and a half decades have witnessed widespread suffering, addiction, and death at the hands of the opioid crisis. This paper analyzes the crisis through a series of time periods, broken down into “waves.” Drawing upon primary material in relation to OxyContin advertisements in the 1990’s, this research takes aim at the origin of widespread opioid abuse disorder. By building upon analysis done on the Sackler Family, Purdue Pharma, heroin abuse, fentanyl overdoses, the COVID-19 pandemic and opioids and addiction in modern pop culture, this thesis shows how despite constant change in public policy, the opioid crisis continues …


Root Phenotyping Of Peptide-Treated Glycine Max, Salem Jackson, Fiona Goggin Jan 2022

Root Phenotyping Of Peptide-Treated Glycine Max, Salem Jackson, Fiona Goggin

Inquiry: The University of Arkansas Undergraduate Research Journal

Plant elicitor peptides (Peps) – endogenous chains of amino acids involved in natural plant defense – have been shown to decrease damage from herbivores and pathogens by inducing an immune response, increasing the emission of volatile organic compounds (VOCS), transcripts, and metabolites. Exogenous treatment of soybean seeds with plant elicitor peptide GmPep3 has been shown to induce these broad-spectrum defenses and offers a new method for increasing crop yield. However, the effects of GmPep3 on indicators of soybean health – root characteristics, growth stages, etc. – have not been fully realized. Using the root-phenotyping platform RhizoVision Explorer, several root traits …


Perceived Self-Efficacy, Confidence, And Skill Among Factors Of Adult Patient Participation In Transitional Care: A Systematic Review Of Quantitative Studies., Andrea Bailey, Jennifer Mallow, Laurie A. Theeke Jan 2022

Perceived Self-Efficacy, Confidence, And Skill Among Factors Of Adult Patient Participation In Transitional Care: A Systematic Review Of Quantitative Studies., Andrea Bailey, Jennifer Mallow, Laurie A. Theeke

Nursing Faculty Publications

Introduction: An advancing healthcare system in which patients are often required to self-manage care needs across countless settings and clinicians is increasing focus on participation in care. Mismanagement of care during already risky care-transitions further increases adverse care outcomes. Understanding factors of patient participation in transitional care in an adult population can help guide ways to reduce this burden.

Methods: A systematic review of the literature guided by the PRISMA method was conducted to identify factors of patient participation in transitional care. Quantitative studies in which patient participation was measured as an outcome variable and related statistics reported, and data …


Archives Of Neurosurgery Volume 1 Issue 2 - Full Issue Jan 2022

Archives Of Neurosurgery Volume 1 Issue 2 - Full Issue

Archives of Neurosurgery

Archives of Neurosurgery Volume 1 Issue 2 - Full Issue


Implementation Of An Icu Surge Capacity Response Protocol, Patrick Simon Soria Jan 2022

Implementation Of An Icu Surge Capacity Response Protocol, Patrick Simon Soria

Regis University Student Publications (comprehensive collection)

Implementation of an ICU Surge Capacity Response Protocol

Patrick Simon S. Soria

Abstract

High consequence infectious diseases (HCID) threaten healthcare systems because of their high transmissibility, resulting in massive infections within hours. In the initial stages of an HCID outbreak in developing countries, there are no definite treatment pathways and guidelines to manage patients who become critically ill. The prolonged surge of critically ill patients affects the physical and mental well-being of intensive care unit (ICU) nurses due to many factors. An ICU surge capacity response protocol was implemented in four intensive care units for four months at one government …


Counseling Children And Adolescents: A Call To Action, Rebekah Byrd, Chad Luke, Sonya Lorelle, Emily Donald, Charmayne R. Adams, Edward (Franc) Hudspeth Jan 2022

Counseling Children And Adolescents: A Call To Action, Rebekah Byrd, Chad Luke, Sonya Lorelle, Emily Donald, Charmayne R. Adams, Edward (Franc) Hudspeth

Office of Health Promotion Scholarship

The ACA 2014 Code of Ethics clearly states the mandate for counselor competence in C.2.a. It is noted that “Counselor practice only within the boundaries of their competence, based on their education, training, supervised experience, state and national credentials, and appropriate professional experience” (p. 8). Given the importance of competencies, ethical standards, and the emphasis on best practice, the paucity of these factors in regard to training and supervision for counselors working with child and adolescent populations is concerning. This article offers a conceptualization of the culture of childhood leading to the need for cultural competency. It outlines information specific …


Early Labor Management: A Quality Improvement Project, Amy Dempsey Jan 2022

Early Labor Management: A Quality Improvement Project, Amy Dempsey

Regis University Student Publications (comprehensive collection)

Objective

The purpose of this quality improvement project is to safely reduce early labor admission rates through the implementation of evidence-based nursing triage management protocol focused on patient education and labor support for spontaneous early labor management in a community hospital setting. This initiative is part of a bundle of care intended to safely reduce primary cesarean birth rates.

Methods

A paired sample t-test was used to compare the following: early admission rates of NTSV patients before and after the study intervention: a pre and post knowledge survey taken by labor and delivery nurses; pre and post ELEQ survey results …


Impact Of Single-Family-Room Nicu Design On Infant Neurodevelopment And Breast Milk Provision, Lucille Kohlenberg Jan 2022

Impact Of Single-Family-Room Nicu Design On Infant Neurodevelopment And Breast Milk Provision, Lucille Kohlenberg

Yale Medicine Thesis Digital Library

NEONATAL INTENSIVE CARE UNIT DESIGN IMPACTING INFANT OUTCOMES AND BREAST MILK PROVISION.

Lucille Kohlenberg and Angela Montgomery, MD, MSEd. Section of Neonatal-Perinatal Medicine, Department of Pediatrics, Yale School of Medicine. New Haven, CT.

Single-family room (SFR) NICUs have gradually replaced open-bay (OB) units over the last three decades. Compared to OB units, SFR units provide increased opportunities for parental rooming and maternal breast milk (MBM) provision; however, they may also present fewer sensory exposures and parental learning opportunities. Due to the presence of potentially beneficial and detrimental effects, it remains uncertain whether the SFR design offers aggregate advantages over the …


Microvascular Decompression For Hemifacial Spasm: Surgical Technical Nuances And Results After 300 Microvascular Decompression Surgeries, Rogelio Revuelta Gutiérrez, Miguel Vega-Arroyo, Olivia L. Vales-Hidalgo, Cynthia E. López-Rafael, Jesús Martínez-Manrique, Sergio Moreno Jiménez Jan 2022

Microvascular Decompression For Hemifacial Spasm: Surgical Technical Nuances And Results After 300 Microvascular Decompression Surgeries, Rogelio Revuelta Gutiérrez, Miguel Vega-Arroyo, Olivia L. Vales-Hidalgo, Cynthia E. López-Rafael, Jesús Martínez-Manrique, Sergio Moreno Jiménez

Archives of Neurosurgery

Introduction: Hemifacial spasm (HFS) is characterized by the involuntary, paroxysmal, painless, and progressive spasmodic contractions of facial muscles innervated by the ipsilateral seventh cranial nerve. To date, neuroimaging studies (Computed Tomography scan [CT] and Magnetic Resonance Imaging [MRI]) are unable to establish the diagnosis. HFS medical treatment with antiepileptic drugs, and Botulinum toxin application are temporarily effective, however, both have shown side effects and lesser cost-effective results. Currently, surgical Micro Vascular Decompression (MVD) for HFS has the highest curative rates and lower operative morbidity. We analyze the demographics, clinical manifestations, outcomes, and complications that to our knowledge, is the largest …


An Unusual Case Of A Giant Intradiploic Epidermoid Cyst Removed Using A Combined Supra-Infratentorial Retromastoid Approach., César Adán Almendárez-Sánchez, Saúl Solorio-Pineda, Abrahan Alfonso Tafur-Grandett, Miguel Ángel Ramírez-Sosa Dr., Gabriel Arturo Ramos Martínez, Leonardo Álvarez-Vázquez Jan 2022

An Unusual Case Of A Giant Intradiploic Epidermoid Cyst Removed Using A Combined Supra-Infratentorial Retromastoid Approach., César Adán Almendárez-Sánchez, Saúl Solorio-Pineda, Abrahan Alfonso Tafur-Grandett, Miguel Ángel Ramírez-Sosa Dr., Gabriel Arturo Ramos Martínez, Leonardo Álvarez-Vázquez

Archives of Neurosurgery

Background: Epidermoid cysts (EC) are relatively rare congenital lesions. They arise from ectodermal debris during aberrant closure of the neural tube, are benign, and of slow growth. They are found predominantly in the cistern of the cerebellopontine angle, most are intradural, and very rarely, there is underlying compression of the venous sinuses, leading to benign intracranial hypertension.

Case description: We present the case of a patient diagnosed with a giant extradural, intradiploic EC with compression of the left transverse sinus and its successful management by using ultrasonic aspiration, performing a combined supra-infratentorial retromastoid approach with occipitotemporal craniotomy, without subsequent …


Asthma Exacerbation Cpg - Dexamethasone Vs. Prednisolone Dosing For Acute Asthma Exacerbation In Children, Children's Mercy Kansas City Jan 2022

Asthma Exacerbation Cpg - Dexamethasone Vs. Prednisolone Dosing For Acute Asthma Exacerbation In Children, Children's Mercy Kansas City

Clinical Critically Appraised Topics

No abstract provided.


Prenatal Perception Of Wic Breastfeeding Recommendation Predicts Breastfeeding Outcomes In Infant's First Year, Joanne Guthrie, Qi Zhang, Kelin Li, Kathryn Wouk, Rajan Lamichhane Jan 2022

Prenatal Perception Of Wic Breastfeeding Recommendation Predicts Breastfeeding Outcomes In Infant's First Year, Joanne Guthrie, Qi Zhang, Kelin Li, Kathryn Wouk, Rajan Lamichhane

Community & Environmental Health Faculty Publications

Objectives

Promoting breastfeeding (BF) is a priority of the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC). Prior research found that pregnant mothers who believed WIC recommends BF only (versus BF and formula equally OK) were more likely to initiate BF and continue through 1 month postpartum. We examine whether such mothers are more likely to continue to exclusively BF through 5 months and BF at all through the infant's first year. Methods

Data are from the WIC Infant and Toddler Feeding Practices Study-2 (ITFPS-2), a longitudinal study that includes 2,649 mothers who completed prenatal interviews. Four BF …


Antioxidative Properties Of Phenolic Compounds And Their Effect On Oxidative Stress Induced By Severe Physical Exercise, Joanna Kruk, Basil Aboul-Enein, Ewa Duchnik, Mariola Marchlewicz Jan 2022

Antioxidative Properties Of Phenolic Compounds And Their Effect On Oxidative Stress Induced By Severe Physical Exercise, Joanna Kruk, Basil Aboul-Enein, Ewa Duchnik, Mariola Marchlewicz

Health & Wellness Department Faculty Publications and Research

Extensive research has found strongly increased generation of reactive oxygen species, free radicals, and reactive nitrogen species during acute physical exercise that can lead to oxidative stress (OS) and impair muscle function. Polyphenols (PCs), the most abundant antioxidants in the human diet, are of increasing interest to athletes as antioxidants. Current literature suggests that antioxidants supplementation can effectively modulate these processes. This overview summarizes the actual knowledge of chemical and biomechanical properties of PCs and their impact as supplements on acute exercise-induced OS, inflammation control, and exercise performance. Evidence maintains that PC supplements have high potency to positively impact redox …


Video Clips Of The Mediterranean Diet On Youtube Tm: A Social Media Content Analysis, Nada Benajiba, Maha Alhomidi, Fahdah Alsunaid, Aljawharah Alabdulkarim, Elizabeth Dodge, Enmanuel A. Chavarria, Basil Aboul-Enein Jan 2022

Video Clips Of The Mediterranean Diet On Youtube Tm: A Social Media Content Analysis, Nada Benajiba, Maha Alhomidi, Fahdah Alsunaid, Aljawharah Alabdulkarim, Elizabeth Dodge, Enmanuel A. Chavarria, Basil Aboul-Enein

Health & Wellness Department Faculty Publications and Research

Purpose

The present study conducted a social media content analysis on videos describing the Mediterranean Diet (MedDiet) posted onYouTube.

Setting

YouTube TM online video sharing and social media platform.

Method

Three independent content experts evaluated 141 YouTube videos on the MedDiet in August 2020 utilizing standard rubric and protocol. Data abstracted include media source(s) of posted videos, and viewer exposure/engagement metrics. Information quality was measured by each content expert independently through use of the DISCERN instrument, a 16-item tool designed to assess reliability, dependability, and trustworthiness of an online source, scores were then aggregated for analysis.

Results

A majority of …


Os-Walk-Eu: An Open-Source Tool To Assess Health-Promoting Residential Walkability Of European City Structures, Stefan Fina, Christian Gerten, Brian Pondi, Lorraine D'Arcy, Niamh O' Reilly, David Sousa Vale, Mauro Pereira, Samuele Zilio Jan 2022

Os-Walk-Eu: An Open-Source Tool To Assess Health-Promoting Residential Walkability Of European City Structures, Stefan Fina, Christian Gerten, Brian Pondi, Lorraine D'Arcy, Niamh O' Reilly, David Sousa Vale, Mauro Pereira, Samuele Zilio

Articles

Introduction This paper introduces OS-WALK-EU, a new open-source walkability assessment tool developed specifically for urban neighbourhoods and using open-source spatial data. A free and open-source tool, OS-WALK-EU is accessible to the general public. It uses open data available worldwide and free online services to compute accessibility, while at the same time allowing users to integrate local datasets if available. Based on a review of existing measurement concepts, the paper adopts dimensions of walkability that were tested in European city environments and explains their conceptualization for software development. We invite the research community to collaboratively test, adopt and use the tool …


Relationships Of Serum Cc16 Levels With Smoking Status And Lung Function In Copd, Kelli C. Gribben, Jill A. Poole, Amy J. Nelson, Paraskevi A. Farazi, Christopher S. Wichman, Art J. Heires, Debra J. Romberger, Tricia D. Levan Jan 2022

Relationships Of Serum Cc16 Levels With Smoking Status And Lung Function In Copd, Kelli C. Gribben, Jill A. Poole, Amy J. Nelson, Paraskevi A. Farazi, Christopher S. Wichman, Art J. Heires, Debra J. Romberger, Tricia D. Levan

Journal Articles: Pulmonary & Critical Care Med

Background: The club cell secretory protein (CC16) has anti-inflammatory and antioxidant effects, and low CC16 serum levels have been associated with both risk and progression of COPD, yet the interaction between smoking and CC16 on lung function outcomes remains unknown.

Methods: Utilizing cross-sectional data on United States veterans, CC16 serum concentrations were measured by ELISA and log transformed for analyses. Spirometry was conducted and COPD status was defined by post-bronchodilator FEV1/FVC ratio < 0.7. Smoking measures were self-reported on questionnaire. Multivariable logistic and linear regression were employed to examine associations between CC16 levels and COPD, and lung function with adjustment for covariates. Unadjusted Pearson correlations described relationships between CC16 level and lung function measures, pack-years smoked, and years since smoking cessation.

Results: The study population (N = 351) was mostly male, white, with an average age over 60 years. An interaction between CC16 and smoking status on …


Identifying Individual Medications Affecting Pulmonary Outcomes When Multiple Medications Are Present, Yisha Li, Ran Dai, Yeongjin Gwon, Stephen I. Rennard, Barry J. Make, Dinah Foer, Matthew J. Strand, Erin Austin, Kendra A. Young, John E. Hokanson, Katherine A. Pratte, Rebecca Conway, Gregory L. Kinney, Copdgene Investigators Jan 2022

Identifying Individual Medications Affecting Pulmonary Outcomes When Multiple Medications Are Present, Yisha Li, Ran Dai, Yeongjin Gwon, Stephen I. Rennard, Barry J. Make, Dinah Foer, Matthew J. Strand, Erin Austin, Kendra A. Young, John E. Hokanson, Katherine A. Pratte, Rebecca Conway, Gregory L. Kinney, Copdgene Investigators

Journal Articles: Pulmonary & Critical Care Med

No abstract provided.


Updated Perspectives On The Role Of Biomechanics In Copd: Considerations For The Clinician, Jennifer M. Yentes, Wai-Yan Liu, Kuan Zhang, Eric Markvicka, Stephen I. Rennard Jan 2022

Updated Perspectives On The Role Of Biomechanics In Copd: Considerations For The Clinician, Jennifer M. Yentes, Wai-Yan Liu, Kuan Zhang, Eric Markvicka, Stephen I. Rennard

Journal Articles: Pulmonary & Critical Care Med

Patients with chronic obstructive pulmonary disease (COPD) demonstrate extra-pulmonary functional decline such as an increased prevalence of falls. Biomechanics offers insight into functional decline by examining mechanics of abnormal movement patterns. This review discusses biomechanics of functional outcomes, muscle mechanics, and breathing mechanics in patients with COPD as well as future directions and clinical perspectives. Patients with COPD demonstrate changes in their postural sway during quiet standing compared to controls, and these deficits are exacerbated when sensory information (eg, eyes closed) is manipulated. If standing balance is disrupted with a perturbation, patients with COPD are slower to return to baseline …


An Artifact In Intracellular Cytokine Staining For Studying T Cell Responses And Its Alleviation., Zheng Gong, Qing Li, Jiayuan Shi, Guangwen Ren Jan 2022

An Artifact In Intracellular Cytokine Staining For Studying T Cell Responses And Its Alleviation., Zheng Gong, Qing Li, Jiayuan Shi, Guangwen Ren

Faculty Research 2022

Intracellular cytokine staining (ICS) is a widely employed ex vivo method for quantitative determination of the activation status of immune cells, most often applied to T cells. ICS test samples are commonly prepared from animal or human tissues as unpurified cell mixtures, and cell-specific cytokine signals are subsequently discriminated by gating strategies using flow cytometry. Here, we show that when ICS samples contain Ly6G+ neutrophils, neutrophils are ex vivo activated by an ICS reagent - phorbol myristate acetate (PMA) - which leads to hydrogen peroxide (H2O2) release and death of cytokine-expressing T cells. This artifact …


Genomic Heterogeneity Underlies Multidrug Resistance In Pseudomonas Aeruginosa: A Population-Level Analysis Beyond Susceptibility Testing., Laura J Rojas, Mohamad Yasmin, Jacquelynn Benjamino, Steven M Marshall, Kailynn J Deronde, Nikhil P Krishnan, Federico Perez, Andrew A Colin, Monica Cardenas, Octavio Martinez, Armando Pérez-Cardona, Daniel D Rhoads, Michael R Jacobs, John J Lipuma, Michael W Konstan, Alejandro J Vila, Andrea Smania, Andrew R Mack, Jacob G Scott, Mark D Adams, Lilian M Abbo, Robert A Bonomo Jan 2022

Genomic Heterogeneity Underlies Multidrug Resistance In Pseudomonas Aeruginosa: A Population-Level Analysis Beyond Susceptibility Testing., Laura J Rojas, Mohamad Yasmin, Jacquelynn Benjamino, Steven M Marshall, Kailynn J Deronde, Nikhil P Krishnan, Federico Perez, Andrew A Colin, Monica Cardenas, Octavio Martinez, Armando Pérez-Cardona, Daniel D Rhoads, Michael R Jacobs, John J Lipuma, Michael W Konstan, Alejandro J Vila, Andrea Smania, Andrew R Mack, Jacob G Scott, Mark D Adams, Lilian M Abbo, Robert A Bonomo

Faculty Research 2022

BACKGROUND: Pseudomonas aeruginosa is a persistent and difficult-to-treat pathogen in many patients, especially those with Cystic Fibrosis (CF). Herein, we describe a longitudinal analysis of a series of multidrug resistant (MDR) P. aeruginosa isolates recovered in a 17-month period, from a young female CF patient who underwent double lung transplantation. Our goal was to understand the genetic basis of the observed resistance phenotypes, establish the genomic population diversity, and define the nature of sequence evolution over time.

METHODS: Twenty-two sequential P. aeruginosa isolates were obtained within a 17-month period, before and after a double-lung transplant. At the end of the …


Genome-Wide Variant Calling In Reanalysis Of Exome Sequencing Data Uncovered A Pathogenic Tubb3 Variant., Elke De Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Solve-Rd Snv-Indel Working Group, Daniel Danis, Peter N Robinson, Solve-Rd-Ditf Ithaca Jan 2022

Genome-Wide Variant Calling In Reanalysis Of Exome Sequencing Data Uncovered A Pathogenic Tubb3 Variant., Elke De Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Solve-Rd Snv-Indel Working Group, Daniel Danis, Peter N Robinson, Solve-Rd-Ditf Ithaca

Faculty Research 2022

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wide variant calling approach, despite …


Curation And Expansion Of Human Phenotype Ontology For Defined Groups Of Inborn Errors Of Immunity., Matthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul Van Daele, Tracy A Briggs, Carine Wouters, Brigitte Bader-Meunier, Florence A Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beata Derfalvi, Francesco Saettini, Maaike A A Kusters, Reem Elfeky, Johannes Trück, Jacques G Rivière, Mirjam Van Der Burg, Marco Gattorno, Markus G Seidel, Siobhan Burns, Klaus Warnatz, Fabian Hauck, Paul Brogan, Kimberly C Gilmour, Catharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther De Vries, Peter N Robinson, Marielle Van Gijn, Kaan Boztug Jan 2022

Curation And Expansion Of Human Phenotype Ontology For Defined Groups Of Inborn Errors Of Immunity., Matthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul Van Daele, Tracy A Briggs, Carine Wouters, Brigitte Bader-Meunier, Florence A Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beata Derfalvi, Francesco Saettini, Maaike A A Kusters, Reem Elfeky, Johannes Trück, Jacques G Rivière, Mirjam Van Der Burg, Marco Gattorno, Markus G Seidel, Siobhan Burns, Klaus Warnatz, Fabian Hauck, Paul Brogan, Kimberly C Gilmour, Catharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther De Vries, Peter N Robinson, Marielle Van Gijn, Kaan Boztug

Faculty Research 2022

BACKGROUND: Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms.

OBJECTIVES: We sought to systematically review available terms in HPO for the depiction of IEIs, to expand HPO, yielding more comprehensive sets of …


Independent Dsg4 Frameshift Variants In Cats With Hair Shaft Dystrophy., Sarah Kiener, Ana Rostaher, Silvia Rüfenacht, Vidhya Jagannathan, John P Sundberg, Monika Welle, Tosso Leeb Jan 2022

Independent Dsg4 Frameshift Variants In Cats With Hair Shaft Dystrophy., Sarah Kiener, Ana Rostaher, Silvia Rüfenacht, Vidhya Jagannathan, John P Sundberg, Monika Welle, Tosso Leeb

Faculty Research 2022

Investigations of hereditary phenotypes in spontaneous mutants may help to better understand the physiological functions of the altered genes. We investigated two unrelated domestic shorthair cats with bulbous swellings of the hair shafts. The clinical, histopathological, and ultrastructural features were similar to those in mice with lanceolate hair phenotype caused by loss-of-function variants in Dsg4 encoding desmoglein 4. We sequenced the genomes from both affected cats and compared the data of each affected cat to 61 control genomes. A search for private homozygous variants in the DSG4 candidate gene revealed independent frameshift variants in each case, c.76del or p.Ile26fsLeu*4 in …


At-Home Blood Collection And Stabilization In High Temperature Climates Using, Lauren G Brown, Amanda J Haack, Dakota S Kennedy, Karen N Adams, Jennifer E Stolarczuk, Meg G Takezawa, Erwin Berthier, Sanitta Thongpang, Fang Yun Lim, Damien Chaussabel, Mathieu Garand, Ashleigh B Theberge Jan 2022

At-Home Blood Collection And Stabilization In High Temperature Climates Using, Lauren G Brown, Amanda J Haack, Dakota S Kennedy, Karen N Adams, Jennifer E Stolarczuk, Meg G Takezawa, Erwin Berthier, Sanitta Thongpang, Fang Yun Lim, Damien Chaussabel, Mathieu Garand, Ashleigh B Theberge

Faculty Research 2022

Expanding whole blood sample collection for transcriptome analysis beyond traditional phlebotomy clinics will open new frontiers for remote immune research and telemedicine. Determining the stability of RNA in blood samples exposed to high ambient temperatures (>30°C) is necessary for deploying home-sampling in settings with elevated temperatures (e.g., studying physiological response to natural disasters that occur in warm locations or in the summer). Recently, we have developed