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Articles 18781 - 18810 of 23774
Full-Text Articles in Medicine and Health Sciences
Nature Effects On Stress, Jaclyn Griffith
Nature Effects On Stress, Jaclyn Griffith
Graduate Research Projects
No abstract provided.
Obstructive Sleep Apnea And Cardiovascular Disease, Evan Gagnon
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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