Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Discipline
Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 27841 - 27870 of 325200

Full-Text Articles in Medicine and Health Sciences

The Impact Of Attachment Education On Families With Children Diagnosed With Autism Spectrum Disorder: A Proposed Workshop, Sabrina S. Stone-Smith May 2025

The Impact Of Attachment Education On Families With Children Diagnosed With Autism Spectrum Disorder: A Proposed Workshop, Sabrina S. Stone-Smith

Electronic Theses, Projects, and Dissertations

For young children with autism spectrum disorder, one important determinant of later social and emotional functioning is the development of a secure attachment. While there is extensive literature outlining the benefits of attachment security, there is a limited number of studies specifically examining programs intended to increase attachment security in this population. This project aims to create a four-session workshop designed to provide caregivers of children in this population with information about attachment theory and parental sensitivity in order to increase the amount of positive and emotionally validating experiences in child-caregiver interactions while reducing parental stress. Future research is necessary …


An Exposition On Prostate Cancer Dynamics: A History And Exploration Of Cancer Growth Models, Walter Navarro May 2025

An Exposition On Prostate Cancer Dynamics: A History And Exploration Of Cancer Growth Models, Walter Navarro

Electronic Theses, Projects, and Dissertations

The detection, diagnosis, and treatment of cancer are the primary objectives of the field of mathematical oncology. Our goal is to examine the history of mathematical oncology by introducing the models that have influenced it. From this vantage point, we examine five primary models that focus on the progression of prostate cancer and the development of treatment protocols at different stages. The Ideta model will be further elaborated upon by examining the effects of androgen deprivation therapy and the addition of chemotherapy on growth dynamics. Finally, clinical data will be utilized to verify the Vollmer and Humphrey model’s findings. We …


Micronutrient Deficiencies In Celiac Disease: Systematic Review, Natalie A. Martinez May 2025

Micronutrient Deficiencies In Celiac Disease: Systematic Review, Natalie A. Martinez

Electronic Theses, Projects, and Dissertations

Celiac disease (CD) is a chronic autoimmune disease triggered by the ingestion of gluten in genetically susceptible individuals, leading to villous atrophy, nutrient malabsorption, and a range of systemic complications. Although adherence to a strict gluten-free diet (GFD) remains the only effective treatment, growing evidence suggests that the GFD alone may be insufficient in meeting the long-term nutritional and psychosocial needs of adults with CD. This systematic review evaluates the prevalence and persistence of micronutrient deficiencies—including iron, calcium, vitamin D, folate, vitamin B12, magnesium, and zinc—in adult CD populations following a GFD. It also examines the psychological burden associated with …


Health And Community Resource Book, Gabriela Gonzalez May 2025

Health And Community Resource Book, Gabriela Gonzalez

Electronic Theses, Projects, and Dissertations

ABSTRACT

The High Desert Health and Resource Guide offers an in-dept exploration of the challenges and resources available to support the high desert communities, particularly to include cities of Apple Valley, Phelan and Victorville. These communities are composed of low-income households, and they face significant health disparities and food insecurity. Factors such as limited access to healthcare, mental health services, homeless shelters, and limited availability of health food choices. Additionally, many cities in the region are affected by food deserts, which further hinder resident’s ability to access nutritious, wholesome food. The resource guidebook highlights both the challenges and issues that …


Awareness And Attitudes Toward Diabetes Among Students In The California State University System, Cesar Fajardo May 2025

Awareness And Attitudes Toward Diabetes Among Students In The California State University System, Cesar Fajardo

Electronic Theses, Projects, and Dissertations

Background and Aims: The prevalence of type 2 diabetes has been increasing globally. Studies examining patient awareness and attitudes toward diabetes have been conducted and found that diabetes education does increase patient knowledge but has no effect on attitudes. Additionally, many of these studies did not assess university students’ views on type 2 diabetes. Given that type 2 diabetes incidence is increasing among young adults, more attention must be given to this population. Therefore, the aim of this study was to investigate CSUSB students' understanding and attitudes toward type 2 diabetes.

Methods: A cross-sectional study using electronic surveys with …


Refractive Error And Axial Length (Real) Study: Feasibility Of A Population Study In The United States, Sarah E. Singh Dr, Lisa A. Ostrin, Kristen Kerber Dr, Concepcion Cayle, Celia Gong Dr, Lal Barsha Dr, Ian Flitcroft, Síofra Harrington, James Loughman, Kathryn Saunders Prof, Fuensanta Vera-Diaz Dr May 2025

Refractive Error And Axial Length (Real) Study: Feasibility Of A Population Study In The United States, Sarah E. Singh Dr, Lisa A. Ostrin, Kristen Kerber Dr, Concepcion Cayle, Celia Gong Dr, Lal Barsha Dr, Ian Flitcroft, Síofra Harrington, James Loughman, Kathryn Saunders Prof, Fuensanta Vera-Diaz Dr

Articles

Myopia is the most common eye disease and a leading cause of blindness. A contemporary, large, and ethnically and geographically diverse study of ocular biometry and refractive error in children in the United States is needed to help better describe differences between myopic and nonmyopic eyes.

This is an initial cross-sectional report from the Refractive Error and Axial Length Growth Curve Study that includes ocular component data as a function of age, gender, and geographic location. This feasibility report will inform a planned larger longitudinal ocular growth study in children in the United States.

Cross-sectional data on children, ages 3 …


Increasing Incentive Spirometry Use In Patients With Sickle Cell Disease Admitted To Cmh, Juan Nario Ramirez, Alexandra Prosser-Dombrowski, Thomas R. Cochran, Joel Thompson May 2025

Increasing Incentive Spirometry Use In Patients With Sickle Cell Disease Admitted To Cmh, Juan Nario Ramirez, Alexandra Prosser-Dombrowski, Thomas R. Cochran, Joel Thompson

Posters

Acute chest syndrome is one of the leading causes of morbidity and mortality in patients with sickle cell disease. The National Heart, Lung, and Blood Institute (NHLBI) recommends that patients with sickle cell disease perform ten breaths of incentive spirometry (IS) every two hours while awake to prevent development of acute chest syndrome. By not meeting these guidelines, patients are more likely to develop this potentially life-threatening acute complication. To increase the use of IS in patients with sickle cell disease admitted to the hospital for vaso-occlusive pain. Patients were identified and IS occurrences were measured via review of electronic …


Oral Surgical Needs In A Pediatric Hospital Dental Clinic, Meredith Clark, Richard Nguyen, Kaitlin Carlson, Brenda S Bohaty, Amy Burleson, Robin Onikul, Neena Patel, Jenna Sparks May 2025

Oral Surgical Needs In A Pediatric Hospital Dental Clinic, Meredith Clark, Richard Nguyen, Kaitlin Carlson, Brenda S Bohaty, Amy Burleson, Robin Onikul, Neena Patel, Jenna Sparks

Posters

Purpose: The aim of this study is to evaluate and assess the oral surgery needs in a pediatric hospital dental clinic at Children’s Mercy Hospital in Kansas City. Methods: Following IRB approval, appointments over a 6-month time-period were reviewed and recorded when a referral was placed to an oral surgeon. The reason for referral, patient age and medical history were recorded and analyzed. Results: Half of the patients needing oral and maxillofacial procedures were between the ages of 8-10 years old. There was an equal number of patients needing extractions due to carious/non-restorable teeth with and without special health care …


Differential Diagnosis Of Oral Ulcerations: A Case Report, Richard Nguyen, Kaitlin Carlson, Meredith Clark, Amy Burleson, Brenda S Bohaty, Robin Onikul, Neena Patel, Jenna Sparks May 2025

Differential Diagnosis Of Oral Ulcerations: A Case Report, Richard Nguyen, Kaitlin Carlson, Meredith Clark, Amy Burleson, Brenda S Bohaty, Robin Onikul, Neena Patel, Jenna Sparks

Posters

The diagnosis of oral lesions in children can be challenging as it can be an unspecified symptom of several diseases. Differential diagnoses can range from infectious diseases of childhood, inflammations, nutritional deficiencies, and chronic diseases. Because of this, children with oral ulcers may be treated by different specialists such as pediatric dentists and pediatricians. The purpose of this poster is to report the case of a twenty-one-month-old female patient who presented to Children’s Mercy Hospital Kansas City Emergency Department with chief concern for acute onset of intraoral oral ulcers, extraoral blisters near the lower lip, and fetid oral odor. Patient …


Disability Inclusion In Local Public Health Community Health Assessments And Community Health Improvement Plans, Haleigh Leslie May 2025

Disability Inclusion In Local Public Health Community Health Assessments And Community Health Improvement Plans, Haleigh Leslie

Electronic Theses and Dissertations

Introduction: Local health departments (LHDs) use community health assessments (CHAs) and community health improvement plans (CHIPs) to identify and address health needs of the populations they serve. People with disabilities experience health disparities, and there is limited information about how the health needs of people with disabilities are included in CHAs and CHIPs. The purpose of this study was to describe and quantify disability inclusion in LHD CHAs and CHIPs.

Methods: This cross-sectional, mixed methods study used the CHAs and CHIPs of accredited local health departments, data about LHDs and populations served, and interviews with LHD staff and community partners …


The Reliability And Validity Of Accelerometry And Gnss, Christine Coniglio May 2025

The Reliability And Validity Of Accelerometry And Gnss, Christine Coniglio

Electronic Theses and Dissertations

This dissertation seeks to evaluate the reliability, validity, and utility of accelerometers and GNSS in sport-like scenarios, assess accelerometry-derived metrics and GNSS for distance prediction, and explore how accelerometer placement, specifically chest and back, affect the detection of various locomotor events. In Study I, the purpose was to investigate the accelerometer reliability and predictive capabilities of accelerometers and GNSS to predict a known distance. Thirty physically active female participants (mean height = 163.6 ± 6.8 cm, mean weight = 57.8 ± 8.7 kg) completed jogging trials over two courses (5m and 20m). Each participant wore two tri-axial accelerometers (100Hz) and …


Assessing The Relationship Between The Incidence Of Campylobacteriosis And Ecological Risk Factors In Tennessee, Emmanuel Angmorteh Mensah May 2025

Assessing The Relationship Between The Incidence Of Campylobacteriosis And Ecological Risk Factors In Tennessee, Emmanuel Angmorteh Mensah

Electronic Theses and Dissertations

Background: Campylobacteriosis although is the leading causes of bacterial diarrheal illnesses, have not gained prominent awareness and there are gaps in the understanding of transmission routes for sporadic, non-outbreak cases and their risk factors at the communal level to humans. This study, therefore, aimed to identify the campylobacteriosis risk factors and risk perception from the existing literature in the United States, determine the incidence and ecological risk factors for campylobacteriosis zip code level in Tennessee, and to perform spatiotemporal analysis of campylobacteriosis incidence cases in Tennessee.

Method: To achieve the first aim, a scoping review was conducted to synthesize …


Racial And Geographic Disparities In Primary Care Transitions For Postpartum Women With Gestational Diabetes And Hypertension In South Carolina, Kajol Dahal May 2025

Racial And Geographic Disparities In Primary Care Transitions For Postpartum Women With Gestational Diabetes And Hypertension In South Carolina, Kajol Dahal

Electronic Theses and Dissertations

Introduction Gestational diabetes (GDM) and gestational hypertension (GH) are significant public health issues with lasting implications for maternal and child health (MCH). Despite clinical guidelines recommending postpartum care for all women, especially those with chronic conditions, less than 50% receive a visit within 12 months of childbirth. Recent policy changes extend postpartum Medicaid coverage from 60 days to 12 months. This study assessed differences in postpartum care visits by race/ethnicity and geography after the extension of postpartum coverage in South Carolina. Methods A retrospective cohort of 27,056 women (aged 20-44) who gave birth in 2021 were analyzed using Medicaid claims …


Thymosin Beta-4: A Novel Treatment For Acanthamoeba Keratitis, Victoria A. Murphey May 2025

Thymosin Beta-4: A Novel Treatment For Acanthamoeba Keratitis, Victoria A. Murphey

All Theses

Acanthamoeba keratitis (AK) is a severe corneal infection caused by the free-living amoeba, Acanthamoeba. Both stages of its life cycle (trophozoite and cyst) cause infection, primarily in contact lens wearers. It is often misdiagnosed, leading to delayed treatment and poor clinical outcomes. Current treatment options for AK rely on anti-amoebic agents that are toxic to corneal epithelial cells. Further, no single drug can eliminate both forms of the amoeba. Approximately 30% of all AK infections require a corneal transplant.

Thymosin beta-4 (Tβ4) is a G-actin binding protein synthesized in almost all human cells, including corneal epithelial cells. Tβ4 exhibits …


Normative Variability In Retinal Nerve Fiber Layer Thickness: Does It Matter Where The Peaks Are?, Sowjanya Gowrisankaran, Ashkan Abbasi, Xubo Song, Joel Schuman, Gadi Wollstein, Bhavna Antony, Hiroshi Ishikawa May 2025

Normative Variability In Retinal Nerve Fiber Layer Thickness: Does It Matter Where The Peaks Are?, Sowjanya Gowrisankaran, Ashkan Abbasi, Xubo Song, Joel Schuman, Gadi Wollstein, Bhavna Antony, Hiroshi Ishikawa

Wills Eye Hospital Papers

PURPOSE: Retinal nerve fiber layer thickness (RNFLT), a glaucoma biomarker, has a wide normative range affecting its sensitivity and specificity for abnormality detection. The interindividual RNFLT peak location variability contribution to this wide normative range has not been directly evaluated. The purpose of this study is to assess the effect of RNFLT peak normalization (PN) on normative variability.

METHODS: Circumpapillary RNFLT profiles at 1.7 mm radius from the optic nerve head (ONH) were re-sampled from optical coherence tomography (OCT) volumes (Cirrus HD-OCT, 200 × 200) obtained from one eye of 83 healthy individuals. Fovea-ONH axis (FOA) was calculated from corresponding …


The Role Of Self Esteem Upon The Recovery Of Eating Disordered Patients, Samanta Flores Velazquez May 2025

The Role Of Self Esteem Upon The Recovery Of Eating Disordered Patients, Samanta Flores Velazquez

Undergraduate Honors Theses

Eating disorders such as anorexia-nervosa, bulimia-nervosa, and binge-eating disorders are detrimental to overall health and well-being. The demands of beauty ideals and attitudes impact young adults negatively as they attempt to meet societal beauty standards. The need for approval, fitting in with the community, and confidence drive the behaviors of people in negative ways. In recent years, the modernization of social media has contributed to dieting cultures, the thin ideal, harmful weight-loss practices, and the cycle to use the body as a means to control or repent. External factors affect the risk of eating disorders which contribute to the challenge …


The Impact Of Emdr Therapy On Past Suicidal Ideation: Lived Experiences Of Young Adults, Lindsey Faehnrich May 2025

The Impact Of Emdr Therapy On Past Suicidal Ideation: Lived Experiences Of Young Adults, Lindsey Faehnrich

Undergraduate Honors Theses

This study explores the effectiveness of Eye Movement Desensitization and Reprocessing (EMDR) therapy in reducing suicidal ideation and improving mental health outcomes among college-attending young adults (ages 18–24) with a history of trauma. EMDR is a body-based psychotherapy designed to alleviate distressing thoughts and trauma. It gained attention for its positive impact on PTSD and has more recently been applied to other mental health disorders. The literature review highlights risk factors including trauma, mental health disorders, suicidal ideation, and EMDR. The methods detail a phenomenological approach, interviewing four young adults who underwent EMDR and experienced past suicidal ideation. This provided …


Interventions Of Eating Habits And Healthy Behaviors, Diego Armando Mazariegos Espinosa May 2025

Interventions Of Eating Habits And Healthy Behaviors, Diego Armando Mazariegos Espinosa

Undergraduate Honors Theses

About thirty to fifty percent of college students report having negative emotions such as anxiety, depression, sadness, anger, hopelessness, shame, fear, and more. And over seventy percent feel exhausted or overwhelmed by schoolwork. According to scholarly research, these emotions pose obstacles during college life impacting the eating habits and healthy behaviors of college students. These habits can have a possibility of bringing lifelong issues in social, educational, and self-esteem aspects. Technology has revolutionized the world in a spectacular way in a short period of time. As students today have access to all sorts of technology like phones and computers, the …


Health Education And Sexual Health Education In High Schools Focused On Training And Curriculum, Kylee R. Horton May 2025

Health Education And Sexual Health Education In High Schools Focused On Training And Curriculum, Kylee R. Horton

Electronic Theses, Projects, and Dissertations

Background: Health education instruction in schools is essential due to mandated state standards that require a range of topics to be taught at specific ages. Education Codes must be followed and integrated into the curriculum. Objective: To develop a handbook for middle and high school teachers in San Bernardino County, California, that explains the mandatory Health Education codes and provides resources to help teachers maintain compliance with these regulation codes. Methods: The research was conducted in a systematic review, and the data was collected from published secondary sources at the state and local levels. Results: Education Codes from the California …


Changes In Adequacy Of Splanchnic Oxygen Delivery And Splanchnic Artery Doppler After Bolus Feedings In Infants: A Systematic Review And Meta-Analysis, Rohit S Loomba, Saloni P Sheth, Joshua Wong, Megan Davis, Juan S Farias, Enrique G Villarreal, Saul Flores May 2025

Changes In Adequacy Of Splanchnic Oxygen Delivery And Splanchnic Artery Doppler After Bolus Feedings In Infants: A Systematic Review And Meta-Analysis, Rohit S Loomba, Saloni P Sheth, Joshua Wong, Megan Davis, Juan S Farias, Enrique G Villarreal, Saul Flores

Faculty, Staff and Students Publications

Background: Current practice regarding timing of feed initiation and feed tolerance largely relies on anecdotal practice and protocols. This study aims to provide an objective measure to guide clinical practice by analyzing changes in splanchnic regional oxygen saturation and Doppler patterns with feeds.

Methods: A systematic review was performed. Inclusion criteria were: 1) patients under 1 year of age; 2) splanchnic regional oxygen saturation with near infrared spectroscopy before and after feeds or mesenteric Doppler findings before and after feeds; and 3) clinical parameters must have been presented as either mean and standard deviation or median and range. Endpoints of …


Digital Interventions For Suicide Prevention, Sean K Burr, Miao Yu, Danny Clark, Dana Alonzo, Robin E Gearing May 2025

Digital Interventions For Suicide Prevention, Sean K Burr, Miao Yu, Danny Clark, Dana Alonzo, Robin E Gearing

Faculty, Staff and Students Publications

Background: Digital-based mobile interventions hold significant promise in preventing suicide. Although mixed, some evidence suggests these interventions are effective and capable of overcoming barriers such as cost and stigma. Aim(s): This review aimed to determine the effectiveness of digital interventions designed to address suicidal ideation and behaviors and the impacts of age, gender, and control group type on these outcomes.

Methods: Databases were searched for randomized controlled trials (RCTs) on digital suicide interventions (apps/online programs) published before January 1, 2022. Data were analyzed using a random-effects model in Stata 17.

Results: The search identified 4,317 articles, and 16 were included. …


Feasibility And Acceptability Of The Team Pilot Trial With African American And Latino Families, Ashley M Butler, Marisa E Hilliard, Krystal Christopher, Marissa Baudino, Charles Minard, Lefkothea Karaviti May 2025

Feasibility And Acceptability Of The Team Pilot Trial With African American And Latino Families, Ashley M Butler, Marisa E Hilliard, Krystal Christopher, Marissa Baudino, Charles Minard, Lefkothea Karaviti

Faculty, Staff and Students Publications

Objective: We adapted the empirically supported Family Teamwork intervention protocol to support collaborative parent involvement in type 1 diabetes (T1D) management among African American and Latino parents of children with T1D. This randomized pilot study aimed to evaluate feasibility and acceptability of the Type 1 Diabetes Empowerment and Management (TEAM) intervention.

Methods: African American and Latino parents (n = 59; 65% recruitment rate) of youth (ages 5-10 years, M = 8.9 ± 1.6 years; 59% female, M hemoglobin A1c 9.0% ± 1.9%) with diabetes duration of ≥1 year and who were fluent in English and not planning to leave the …


Digital Twins, Synthetic Patient Data, And In-Silico Trials: Can They Empower Paediatric Clinical Trials?, Mohan Pammi, Prakesh S Shah, Liu K Yang, Joseph Hagan, Nima Aghaeepour, Josef Neu May 2025

Digital Twins, Synthetic Patient Data, And In-Silico Trials: Can They Empower Paediatric Clinical Trials?, Mohan Pammi, Prakesh S Shah, Liu K Yang, Joseph Hagan, Nima Aghaeepour, Josef Neu

Faculty, Staff and Students Publications

Randomised controlled trials are the gold standard to assess the effectiveness and safety of clinical interventions; however, many paediatric trials are discontinued early due to challenges in patient enrolment. Hence, most paediatric clinical trials suffer from lack of adequate power. Additionally, trials are expensive and might expose patients to unproven therapies. Alternatives to overcome these issues using virtual patient data—namely, digital twins, synthetic patient data, and in-silico trials—are now possible due to rapid advances in digital health-care tools and interventions. However, such digital innovations have been rarely used in paediatric trials. In this Viewpoint, we propose using virtual patient data …


Early Prediction Of Mortality And Morbidities In Vlbw Preterm Neonates Using Machine Learning, Chi-Hung Shu, Rema Zebda, Camilo Espinosa, Jonathan Reiss, Anne Debuyserie, Kristina Reber, Nima Aghaeepour, Mohan Pammi May 2025

Early Prediction Of Mortality And Morbidities In Vlbw Preterm Neonates Using Machine Learning, Chi-Hung Shu, Rema Zebda, Camilo Espinosa, Jonathan Reiss, Anne Debuyserie, Kristina Reber, Nima Aghaeepour, Mohan Pammi

Faculty, Staff and Students Publications

Background: Predicting mortality and specific morbidities before they occur may allow for interventions that may improve health trajectories.

Hypothesis: Integrating key maternal and postnatal infant variables in the first 2 weeks of age into machine learning (ML) algorithms will reliably predict survival and specific morbidities in VLBW preterm infants.

Methods: ML algorithms were developed to integrate 47 features for predicting mortality, bronchopulmonary dysplasia (BPD), neonatal sepsis, necrotizing enterocolitis (NEC), intraventricular hemorrhage (IVH), cystic periventricular leukomalacia (PVL), and retinopathy of prematurity (ROP). A retrospective cohort (n = 3341) was used to train and validate the models with a repeated 10-fold cross-validation …


Temporal Dynamics Of Bmp/Nodal Ratio Drive Tissue-Specific Gastrulation Morphogenesis, Alyssa A Emig, Megan Hansen, Sandra Grimm, Cristian Coarfa, Nathan D Lord, Margot Kossmann Williams May 2025

Temporal Dynamics Of Bmp/Nodal Ratio Drive Tissue-Specific Gastrulation Morphogenesis, Alyssa A Emig, Megan Hansen, Sandra Grimm, Cristian Coarfa, Nathan D Lord, Margot Kossmann Williams

Faculty, Staff and Students Publications

Anteroposterior elongation of the vertebrate body plan is driven by convergence and extension (C&E) gastrulation movements in both the mesoderm and neuroectoderm, but how or whether molecular regulation of C&E differs between tissues remains an open question. Using a zebrafish explant model of anteroposterior axis extension, we show that C&E of the neuroectoderm and mesoderm can be uncoupled ex vivo, and that morphogenesis of individual tissues results from distinct morphogen signaling dynamics. Using precise temporal manipulation of BMP and Nodal signaling, we identify a critical developmental window during which high or low BMP/Nodal ratios induce neuroectoderm- or mesoderm-driven C&E, respectively. …


Clinical, Immunologic, And Genetic Characteristics Of 148 Patients With Natural Killer Cell Deficiency, Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, Ivan K Chinn, Lisa R Forbes Satter, Nicholas L Rider, Pinaki P Banerjee, M Cecilia Poli, Sanjana Mahapatra, Debra Canter, Tram Cao, Linda M Shawver, Sarada L Nandiwada, James R Lupski, Jennifer E Posey, Rajasekhar Ramakrishnan, Emily M Mace, Jordan S Orange May 2025

Clinical, Immunologic, And Genetic Characteristics Of 148 Patients With Natural Killer Cell Deficiency, Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, Ivan K Chinn, Lisa R Forbes Satter, Nicholas L Rider, Pinaki P Banerjee, M Cecilia Poli, Sanjana Mahapatra, Debra Canter, Tram Cao, Linda M Shawver, Sarada L Nandiwada, James R Lupski, Jennifer E Posey, Rajasekhar Ramakrishnan, Emily M Mace, Jordan S Orange

Faculty, Staff and Students Publications

Background: Natural killer (NK) cell deficiency (NKD) is an immunodeficiency phenotype in which abnormality of NK cells is the major clinically relevant immune defect.

Objective: We sought to define the clinical, immunologic, and genetic characteristics of patients with NKD to aid in the understanding of these individuals and this cell type and guide future research and clinical practice.

Methods: During 2006-2022, 168 individuals with a suspected diagnosis of NKD were enrolled, with comprehensive clinical, immunologic, and genetic data collected and analyzed. Research exome sequencing was performed to identify both known and novel genetic associations.

Results: NK cell abnormalities consistent with …


Goal Attainment In Pmm2-Cdg: A New Approach Measuring Meaningful Clinical Outcomes, Sanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel, Mirian C H Janssen, Jehan Mousa, Austin Larson, Rameen Shah, Georgia Mcdonald, Kyriaki Sarafoglou, Gerard Berry, Tamas Kozicz, Christina Lam, Eva Morava May 2025

Goal Attainment In Pmm2-Cdg: A New Approach Measuring Meaningful Clinical Outcomes, Sanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel, Mirian C H Janssen, Jehan Mousa, Austin Larson, Rameen Shah, Georgia Mcdonald, Kyriaki Sarafoglou, Gerard Berry, Tamas Kozicz, Christina Lam, Eva Morava

Faculty, Staff and Students Publications

Patient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and research, though their use in rare diseases remains limited. In disorders with significant phenotypic variation, selecting appropriate outcome measures is crucial to ensuring the relevance of clinical trials for the patient population. Phosphomannomutase 2-CDG (PMM2-CDG) involves a complex genotype-phenotype relationship, making it challenging to predict clinical outcomes and select reliable measures for clinical trials. Caused by biallelic pathogenic variants in the PMM2, PMM2-CDG displays highly variable clinical severity, underscoring the need for personalized outcome measures. One such so far unexplored, individualized approach is Goal Attainment Scaling (GAS), which …


Functional Vision Assessment Over 4 Years In Ush2a Using The Veteran Affairs Low-Vision Visual Functioning Questionnaire, Bela Parekh, Nicholas Peck-Dimit, Jacque L Duncan, Lassana Samarakoon, Maria Fernanda Abalem, Chris A Andrews, Isabelle Audo, Allison R Ayala, Chris Bradley, Janet K Cheetham, Gislin Dagnelie, Todd A Durham, Rachel M Huckfeldt, Gabrielle D Lacy, Brett Malbin, Michel Michaelides, David C Musch, Katarina Stingl, Christina Y Weng, Alex Z Zmejkoski, Michele Melia, K Thiran Jayasundera, Foundation Fighting Blindness Clinical Consortium Investigator Group May 2025

Functional Vision Assessment Over 4 Years In Ush2a Using The Veteran Affairs Low-Vision Visual Functioning Questionnaire, Bela Parekh, Nicholas Peck-Dimit, Jacque L Duncan, Lassana Samarakoon, Maria Fernanda Abalem, Chris A Andrews, Isabelle Audo, Allison R Ayala, Chris Bradley, Janet K Cheetham, Gislin Dagnelie, Todd A Durham, Rachel M Huckfeldt, Gabrielle D Lacy, Brett Malbin, Michel Michaelides, David C Musch, Katarina Stingl, Christina Y Weng, Alex Z Zmejkoski, Michele Melia, K Thiran Jayasundera, Foundation Fighting Blindness Clinical Consortium Investigator Group

Faculty, Staff and Students Publications

Purpose: The purpose of this study was to evaluate the validity of the Veterans Affairs Low Vision Visual Functioning Questionnaire (VALVVFQ-48) functional vision scores (FVS) in patients with USH2A-associated retinal degeneration. In addition, to correlate the change in the VALVVFQ-48 FVS with the change in visual function (VF) measurements.

Methods: The VALVVFQ-48 was administered verbally to participants ≥18 years of age at baseline, and after 2 and 4 years. Associations among changes in FVS and changes in VF measures were assessed using the Spearman correlation coefficients. Mixed effects regression models with a random intercept were used to estimate annual rates …


Glands Of Moll: History, Current Knowledge And Their Role In Ocular Surface Homeostasis And Disease, Michael Stopfer, Ingrid Zahn, Katharina Jüngert, Gerhard Aumüller, Frans L Moll, Martin Schicht, Helen P Makarenkova, Cintia S De Paiva, Friedrich P Paulsen May 2025

Glands Of Moll: History, Current Knowledge And Their Role In Ocular Surface Homeostasis And Disease, Michael Stopfer, Ingrid Zahn, Katharina Jüngert, Gerhard Aumüller, Frans L Moll, Martin Schicht, Helen P Makarenkova, Cintia S De Paiva, Friedrich P Paulsen

Faculty, Staff and Students Publications

Over the last 20 years, research into the Meibomian glands of the eyelids has increased exponentially and is now widely recognized as a field of research. It is all the more astonishing that knowledge about another type of gland in the eyelids, the Moll glands or ciliary glands, has almost stagnated and there has been little to almost no progress, even though this type of gland as a whole takes up a relatively large volume in the upper and lower eyelids. There is not much information about the namesake Moll or the function of the glands although these are listed …


Efficacy And Safety Of Epicutaneous Immunotherapy In Peanut-Allergic Toddlers: Open-Label Extension To Epitope, Matthew Greenhawt, Deborah Albright, Sara Anvari, Nicolette Arends, Peter D Arkwright, Philippe Bégin, Katharina Blümchen, Terri Brown-Whitehorn, Heather Cassell, Edmond S Chan, Christina E Ciaccio, Antoine Deschildre, Amandine Divaret-Chauveau, Stacy Dorris, Morna Dorsey, George Du Toit, Thomas Eiwegger, Michel Erlewyn-Lajeunesse, David M Fleischer, Lara S Ford, Maria Garcia-Lloret, Jonathan O'B Hourihane, Nicola Jay, Stacie M Jones, Edwin H Kim, Kirsten Kloepfer, Stephanie Leonard, Guillaume Lezmi, Jay Lieberman, Jeanne Lomas, Melanie Makhija, Michael O'Sullivan, Christopher Parrish, Jane Peake, Kirsten P Perrett, Daniel Petroni, Jacqueline A Pongracic, Patrick Quinn, Rachel G Robison, Georgiana Sanders, Lynda Schneider, Hemant Sharma, Sayantani B Sindher, Juan Trujillo, Paul J Turner, Katherine Tuttle, Julia Upton, Pooja Varshney, Brian P Vickery, Christian Vogelberg, Brynn Wainstein, Julie Wang, Robert Wood, Katharine J Bee, Dianne E Campbell, Todd D Green, Rihab Rouissi, Henry T Bahnson, Timothée Bois, Hugh A Sampson, A Wesley Burks May 2025

Efficacy And Safety Of Epicutaneous Immunotherapy In Peanut-Allergic Toddlers: Open-Label Extension To Epitope, Matthew Greenhawt, Deborah Albright, Sara Anvari, Nicolette Arends, Peter D Arkwright, Philippe Bégin, Katharina Blümchen, Terri Brown-Whitehorn, Heather Cassell, Edmond S Chan, Christina E Ciaccio, Antoine Deschildre, Amandine Divaret-Chauveau, Stacy Dorris, Morna Dorsey, George Du Toit, Thomas Eiwegger, Michel Erlewyn-Lajeunesse, David M Fleischer, Lara S Ford, Maria Garcia-Lloret, Jonathan O'B Hourihane, Nicola Jay, Stacie M Jones, Edwin H Kim, Kirsten Kloepfer, Stephanie Leonard, Guillaume Lezmi, Jay Lieberman, Jeanne Lomas, Melanie Makhija, Michael O'Sullivan, Christopher Parrish, Jane Peake, Kirsten P Perrett, Daniel Petroni, Jacqueline A Pongracic, Patrick Quinn, Rachel G Robison, Georgiana Sanders, Lynda Schneider, Hemant Sharma, Sayantani B Sindher, Juan Trujillo, Paul J Turner, Katherine Tuttle, Julia Upton, Pooja Varshney, Brian P Vickery, Christian Vogelberg, Brynn Wainstein, Julie Wang, Robert Wood, Katharine J Bee, Dianne E Campbell, Todd D Green, Rihab Rouissi, Henry T Bahnson, Timothée Bois, Hugh A Sampson, A Wesley Burks

Faculty, Staff and Students Publications

Background: The pivotal phase 3 EPITOPE trial, a 12-month, double-blind, placebo-controlled study of epicutaneous immunotherapy with the VIASKIN patch containing 250 μg of peanut protein (VP250), previously reported significant treatment response versus placebo in peanut-allergic toddlers aged 1 through 3 years.

Objective: To assess the interim efficacy and safety of VP250 from the first year of the EPITOPE open-label extension (OLE) study.

Methods: Eligible participants enrolled in the OLE study for up to 3 years of total treatment with annual double-blind, placebo-controlled food challenges (DBPCFCs) and safety assessments; here we report the first-year OLE (year 2) results.

Results: A total …