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Full-Text Articles in Medicine and Health Sciences

Exploring Adolescent Hearing Aid Usage And Appearance Of Psychiatric Symptoms In Adolescents Using Hearql-28 Surveys, Courtney J. Austin, Dylan Chan Mar 2026

Exploring Adolescent Hearing Aid Usage And Appearance Of Psychiatric Symptoms In Adolescents Using Hearql-28 Surveys, Courtney J. Austin, Dylan Chan

MEDI 9331 Scholarly Activities Clinical Years

Approximately 2% of DHH people in need of mental health services actually receive these services. Among pediatric hearing loss populations, co-occurring cognitive and physical impairments are risk factors for poor mental health status. Due to language barriers and isolation, more children with hearing loss do not have access to mental health services. Cochlear implants have been shown to improve mental health status among the DHH population. Current literature focuses on the mental health status of children with cochlear implants, with little focus on hearing aid users. Using HEAR28 data and surveys, we can quantify the incidence of psychiatric symptoms among …


Improving Equity Within The Holistic Admission Process Through Race-Neutral Holistic Review: A Before And After Cross-Sectional Study, Megan Eikenberry, Kylie Scott, Jaime González, Josh Subialka, Lacey Frankland, Patrice Ayala, Mark Kargela, Byron Russell Mar 2026

Improving Equity Within The Holistic Admission Process Through Race-Neutral Holistic Review: A Before And After Cross-Sectional Study, Megan Eikenberry, Kylie Scott, Jaime González, Josh Subialka, Lacey Frankland, Patrice Ayala, Mark Kargela, Byron Russell

Physical Therapy Faculty Publications

Introduction: The US Physical therapist (PT) workforce lacks racial and ethnic diversity, which may contribute to health disparities. Holistic review (HR) admission methods may improve workforce diversity by evaluating applicants' academic metrics, experiences, and personal attributes. Holistic review processes must adapt following the 2023 Supreme Court ruling prohibiting race-based admission criteria.

Review of literature: Holistic review criteria are program-specific and align with institutional and programmatic goals. While HR is shown to improve student body diversity, most PT education programs heavily emphasize academic metrics, which may disadvantage racial and ethnic minority (REM) applicants from acceptance. This study examines the racial and …


Impact Of Suaahara, An Integrated Nutrition Programme, On Maternal And Child Nutrition At Scale In Nepal, Edward A. Frongillo Jr. Ph.D., Shalini Suresh, Deependra K. Thapa, Kenda Cunningham, Pooja Pandey Rana, Ramesh P. Adhikari, Subir Kole, Bhim Pun, Indra Kshetri, Debendra P. Adhikari, Rolf Klemm Mar 2026

Impact Of Suaahara, An Integrated Nutrition Programme, On Maternal And Child Nutrition At Scale In Nepal, Edward A. Frongillo Jr. Ph.D., Shalini Suresh, Deependra K. Thapa, Kenda Cunningham, Pooja Pandey Rana, Ramesh P. Adhikari, Subir Kole, Bhim Pun, Indra Kshetri, Debendra P. Adhikari, Rolf Klemm

Faculty Publications

Suaahara was an innovative, complex, multi-sectoral, large-scale, nutrition programme in Nepal to increase exposure to nutrition-related information and services, improve nutrition-related knowledge and practices among pregnant women and mothers of infants and young children, and improve their nutrition. This study evaluated the effectiveness of Suaahara to improve nutrition and nutrition-related practices by comparing changes over 10 years between intervention and comparison districts. The samples of households at baseline in 2012 and endline in 2022 were 2040 and 2480, respectively, from 120 old wards. The impact was estimated using intent-to-treat regression models in which survey year, arm and their interaction were …


Exposure To Suaahara Ii Interventions And Knowledge Of Maternal And Child Nutrition And Health Among Mothers, Grandmothers, And Male Household Heads: An Association Study In Nepal, Shalini Suresh, Edward A. Frongillo Jr. Ph.D., Deependra K. Thapa, Ramesh P. Adhikari, Subir K. Kole, Femila Sapkota, Manisha Laxmi Shrestha, Kristine Garn, Pooja Rana Pandey, Indra Kshetri, Dipak Sharma, Kenda Cunningham Mar 2026

Exposure To Suaahara Ii Interventions And Knowledge Of Maternal And Child Nutrition And Health Among Mothers, Grandmothers, And Male Household Heads: An Association Study In Nepal, Shalini Suresh, Edward A. Frongillo Jr. Ph.D., Deependra K. Thapa, Ramesh P. Adhikari, Subir K. Kole, Femila Sapkota, Manisha Laxmi Shrestha, Kristine Garn, Pooja Rana Pandey, Indra Kshetri, Dipak Sharma, Kenda Cunningham

Faculty Publications

Suaahara was a USAID-funded multi-sectoral integrated nutrition program that aimed to improve the nutritional status of children under the age of five and their mothers in Nepal. The program included multiple interventions targeted to mothers and children, as well as other caregivers. Caregiver knowledge of optimal nutrition and health practices among household members is an important driver of healthy child and maternal nutrition behaviors. This study investigates the associations between exposure to Suaahara interventions and knowledge of maternal and child nutrition and health practices among mothers (n =, grandmothers (n =, and male household heads (n =. Linear and logistic …


Apoe And Plasma Ad Biomarkers: The Role Of Genetic Ancestry In Hispanics/Latinos, Caitlin Cheung, Natasha Z Anita, Paola Filigrana, Myriam Fornage, Kevin A Gonzalez, Linda C Gallo, Carmen R Isasi, Robert C Kaplan, Xihao Li, Freddie Márquez, Humberto Parada, Krista M Perreira, Alberto R Ramos, Tatjana Rundek, Wassim Tarraf, Fernando D Testai, Charles Decarli, Hector M González, Tamar Sofer Mar 2026

Apoe And Plasma Ad Biomarkers: The Role Of Genetic Ancestry In Hispanics/Latinos, Caitlin Cheung, Natasha Z Anita, Paola Filigrana, Myriam Fornage, Kevin A Gonzalez, Linda C Gallo, Carmen R Isasi, Robert C Kaplan, Xihao Li, Freddie Márquez, Humberto Parada, Krista M Perreira, Alberto R Ramos, Tatjana Rundek, Wassim Tarraf, Fernando D Testai, Charles Decarli, Hector M González, Tamar Sofer

Faculty, Staff and Student Publications

Background: Apolipoprotein E (APOE) alleles are well-established genetic risk factors for Alzheimer's disease (AD), but their effects on AD biomarkers (amyloid beta [Aβ]42/40, phosphorylated tau [p-tau]181, neurofilament light chain [NfL], and glial fibrillary acidic protein [GFAP]) may vary across populations due to ancestry-, age-, and sex-related differences. We hypothesized that these effects vary across Hispanic/Latino background groups with distinct ancestral admixture.

Methods: We analyzed ε2 and ε4 allele associations with AD biomarkers using survey-weighted linear regression models, adjusting for demographic covariates. Secondary analyses examined genetic analysis group- and ancestry-specific effects.

Results: ε4 was associated with lower Aβ42/40 and higher p-tau181and …


An Exploratory Bayesian Network Analysis Of Weight And Feeding Outcomes In 6-Month-Old Infants With Complex Congenital Heart Disease, Amy Delaney, Mary Taylor, Julie Ann Lavoie, Roger Brown, Karen Pridhame Mar 2026

An Exploratory Bayesian Network Analysis Of Weight And Feeding Outcomes In 6-Month-Old Infants With Complex Congenital Heart Disease, Amy Delaney, Mary Taylor, Julie Ann Lavoie, Roger Brown, Karen Pridhame

Speech Pathology and Audiology Faculty Research and Publications

Purpose: We aimed to explore with a Bayesian network how clinically important factors related to feeding infants with complex congenital heart disease (CCHD) are associated with each other and influence feeding outcomes. Our goal was to raise questions for further study.

Method: This descriptive study included data from 19 infants on severity of neonatal illness, early oral-motor (OM) and swallowing skills, feeding patterns, liquid and solid intake, and weight-for-age at 2 and 6 months. Bayesian network analysis was used to estimate the conditional probabilities of these variables in relation to each other and predict the 6-month weight-for-age z score and …


A Hemodynamic Cascade: Tumor Embolism And Post-Bypass Systolic Anterior Motion During Nephrectomy, Anika Pruthi, Christopher Mcloughlin, Robert Thomas, Keyur Trivedi Mar 2026

A Hemodynamic Cascade: Tumor Embolism And Post-Bypass Systolic Anterior Motion During Nephrectomy, Anika Pruthi, Christopher Mcloughlin, Robert Thomas, Keyur Trivedi

Cooper Medical School of Rowan University Departmental Research

Introduction: Renal cell carcinoma (RCC) commonly invades the renal vein, and in advanced cases, the inferior vena cava (IVC). Standard management of localized RCC with venous thrombus is surgical resection, often requiring radical nephrectomy ± tumor thrombectomy. We present a unique case in which sequential intraoperative tumor embolization and post-cardiopulmonary bypass systolic anterior motion (CPB SAM) created a rare, complex hemodynamic cascade, highlighting challenges in the perioperative management of advanced RCC.

Case Description: A 71-year-old female with a history of hypertension was diagnosed with a large left renal mass with tumor thrombus extending into the left renal vein and IVC, …


The Correlation Of Vitamin D Deficiency On Clinical Disease Activity Index (Cdai) Scores In Patients With Rheumatoid Arthritis, Ruha Reddy, Amanda Rodriguez Do, Amy Wu, Jasmine Sturn, Rachel Champagne, Rebekah Johnson, Marie S. O'Brien Do Mar 2026

The Correlation Of Vitamin D Deficiency On Clinical Disease Activity Index (Cdai) Scores In Patients With Rheumatoid Arthritis, Ruha Reddy, Amanda Rodriguez Do, Amy Wu, Jasmine Sturn, Rachel Champagne, Rebekah Johnson, Marie S. O'Brien Do

USF-LVHN SELECT

No abstract provided.


An Assessment Of Brain Mri Utilization In Inpatient Admissions For Headache And Dizziness At Lehigh Valley Health Network, Srijit Paul, Shadi Jarjous Md Mar 2026

An Assessment Of Brain Mri Utilization In Inpatient Admissions For Headache And Dizziness At Lehigh Valley Health Network, Srijit Paul, Shadi Jarjous Md

USF-LVHN SELECT

No abstract provided.


A Narrative Approach To Understanding K2 Use In The Community, Gabriella Blanco, Abby S. Letcher Md, Nyann Biery Ms Mar 2026

A Narrative Approach To Understanding K2 Use In The Community, Gabriella Blanco, Abby S. Letcher Md, Nyann Biery Ms

USF-LVHN SELECT

No abstract provided.


Preoperative Neighborhood Socioeconomic Deprivation And Patient Reported Quality Of Life In Bladder Cancer Patients Undergoing Radical Cystectomy, Anosh Dadabhoy, Farshad S. Moghaddam, Siamak Daneshmand Mar 2026

Preoperative Neighborhood Socioeconomic Deprivation And Patient Reported Quality Of Life In Bladder Cancer Patients Undergoing Radical Cystectomy, Anosh Dadabhoy, Farshad S. Moghaddam, Siamak Daneshmand

USF-LVHN SELECT

No abstract provided.


Significant Disease In Substance-Related Deaths: A Serious Confounder, Clare F Hartman, Michael Johnson, Chandler Grant Mar 2026

Significant Disease In Substance-Related Deaths: A Serious Confounder, Clare F Hartman, Michael Johnson, Chandler Grant

USF-LVHN SELECT

No abstract provided.


Comparison Of Agar-Based Methodologies To Broth Disc Elution For The Detection Of Aztreonam Susceptibility In The Presence Of Ceftazidime-Avibactam, Teslin Sandstrom, Andra Banete, Alice Kanyua, Kevin Davis, Susan Poutanen Mar 2026

Comparison Of Agar-Based Methodologies To Broth Disc Elution For The Detection Of Aztreonam Susceptibility In The Presence Of Ceftazidime-Avibactam, Teslin Sandstrom, Andra Banete, Alice Kanyua, Kevin Davis, Susan Poutanen

Pathology, East Africa

The combination of aztreonam and ceftazidime-avibactam is a proven treatment option for infections caused by metallo-beta-lactamase (MBL)-expressing gram-negative organisms. Restoration of aztreonam susceptibility in the presence of ceftazidime-avibactam can be determined using the Clinical and Laboratory Standards Institute (CLSI)’s broth disc elution (BDE) method; however, the high manual workload and significant material footprint of this assay make it difficult to implement in a high-throughput clinical microbiology lab. This study evaluates two agar-based methods for the detection of susceptibility to the combination of aztreonam and ceftazidime-avibactam, using BDE as the comparator methodology. Resistant Enterobacterales, Pseudomonas aeruginosa, Stenotrophomonas maltophilia, and Acinetobacter spp. …


Low-Dose Aspirin For Preventing Intrauterine Growth Restriction And Pre-Eclampsia In Sickle Cell Pregnancy, Lydia Pecker, Sophie Lanzkron Mar 2026

Low-Dose Aspirin For Preventing Intrauterine Growth Restriction And Pre-Eclampsia In Sickle Cell Pregnancy, Lydia Pecker, Sophie Lanzkron

Cardeza Foundation for Hematologic Research

No abstract provided.


Does Genetic Testing Influence Outcomes: Early Experience In Melanoma Case Series, Ryan Reyes, George Skenteris, Stella Coker Watson Self Ph.D., Ms, Christine Marie-Gilligan Schammel, Steven D. Trocha Mar 2026

Does Genetic Testing Influence Outcomes: Early Experience In Melanoma Case Series, Ryan Reyes, George Skenteris, Stella Coker Watson Self Ph.D., Ms, Christine Marie-Gilligan Schammel, Steven D. Trocha

Faculty Publications

Background:

The treatment and prognosis of melanoma have historically been based on histologic stage and Breslow depth; however, due to the increase in surveillance, melanomas are being identified at an earlier stage and lower Breslow depth. Advances in genetic testing, such as Decision Dx®, mean that melanoma diagnostic decisions and prognosis can now be directed by genetics. The purpose of this project was to assess the influence of a Decision Dx® high-grade (Class 2A/B) classification on the treatment of melanoma patients at a regional medical center, particularly those not deemed high risk by conventional classification methods, including Breslow depth and …


Screening Ptsd In Clinical Populations Within East Africa: Results From The First Follow-Up Study Of Neurogap-Psychosis, Shaili Jha, Rocky Stroud, Ana Lucia Dice, Joseph Kyebuzibwa, Stella Gichuru, Fredrick Ochieng, Manasi Sharma, Hayden Mountcastle, Lydia Marshall, Lukoye Atwoli Mar 2026

Screening Ptsd In Clinical Populations Within East Africa: Results From The First Follow-Up Study Of Neurogap-Psychosis, Shaili Jha, Rocky Stroud, Ana Lucia Dice, Joseph Kyebuzibwa, Stella Gichuru, Fredrick Ochieng, Manasi Sharma, Hayden Mountcastle, Lydia Marshall, Lukoye Atwoli

Brain and Mind Institute

Background: Given the high burden of trauma in Sub-Saharan Africa, there is a critical need for scalable tools to screen for trauma and posttraumatic stress disorder (PTSD) symptoms, especially in low-resource settings.

Objective: This study aimed to evaluate the utility, reliability, and validity of the Primary Care PTSD Screen for DSM-5 (PC-PTSD-5) administered over the telephone to individuals previously enrolled in the Neuropsychiatric Genetics of African Populations-Psychosis study (NeuroGAP-Psychosis) study in Uganda (N = 4,921) and Kenya (N = 3,149).

Method: Cases with psychosis and controls without psychosis (patients, caretakers, or employees) were recontacted from the NeuroGAP-Psychosis …


Enhancing Pediatric Tube Weaning With Remote Patient Monitoring: A Pilot Quasi-Experimental Study, Sarah T. Edwards, Dana Bakula, Kristina Nash, Saiyara Baset, Amy Ricketts, Julianne Brogren, Ryan M. Thompson, Sarah Bullard, Rachel Graham, Janelle R. Noel-Macdonnell Phd, Brenda Fetter, Lori A. Erickson Mar 2026

Enhancing Pediatric Tube Weaning With Remote Patient Monitoring: A Pilot Quasi-Experimental Study, Sarah T. Edwards, Dana Bakula, Kristina Nash, Saiyara Baset, Amy Ricketts, Julianne Brogren, Ryan M. Thompson, Sarah Bullard, Rachel Graham, Janelle R. Noel-Macdonnell Phd, Brenda Fetter, Lori A. Erickson

Manuscripts, Articles, Book Chapters and Other Papers

Objective: Feeding-tube weaning is conducted in both inpatient and outpatient settings, with significant logistical, financial, and structural barriers to both approaches. We sought to assess whether remote patient monitoring (RPM), using a mobile application, which would overcome many of these barriers, could be effective in helping patients tube wean. Methods: We prospectively enrolled patients with a feeding tube, aged 0–3 years. Enrolled families entered data daily into the remote application. Data were monitored by a nurse and reviewed weekly by a multidisciplinary team. A standard hunger provocation protocol was used, paired with medical, behavioral, oral motor, and nutrition interventions, as …


The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, David J Bridgett, Sheryl O Hughes, Matthew Broussard, Daniela Mccourt, Christina M Croce, Jennifer O Fisher Mar 2026

The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, David J Bridgett, Sheryl O Hughes, Matthew Broussard, Daniela Mccourt, Christina M Croce, Jennifer O Fisher

Children’s Nutrition Research Center Staff Publications

Appetite self-regulation (ASR) among children is thought to have a fundamental role in shaping the development of healthy eating behaviors, dietary intake, and growth during childhood. Parallel to developmental frameworks for understanding "general" self-regulation among children, ASR has been described as involving children's use of "top-down" cognitive processes to moderate "bottom-up" biological drives around food approach and avoidance in the interest of achieving desired eating behaviors or outcomes. Whereas bottom-up ASR processes during early childhood are well characterized, particularly in the context of dysregulation and obesity risk, the role of top-down ASR processes in the development of healthy eating behaviors …


Perceptions And Use Of Behaviour Change Interventions For Physical Activity In Chronic Respiratory Disease In The Republic Of Ireland, Ciara Hanrahan, Joseph G Mcveigh, Terence M O'Connor, Thierry Troosters, Julie Broderick Mar 2026

Perceptions And Use Of Behaviour Change Interventions For Physical Activity In Chronic Respiratory Disease In The Republic Of Ireland, Ciara Hanrahan, Joseph G Mcveigh, Terence M O'Connor, Thierry Troosters, Julie Broderick

Children’s Nutrition Research Center Staff Publications

Objectives: Behaviour change interventions may support physical activity behaviour in people with chronic respiratory disease. The most effective interventions for long-term physical activity behaviour change in this cohort remains unclear. This aim of this study was to explore the use and perceptions of behaviour change interventions by both providers of physical activity programmes for people with chronic respiratory disease and by people living with chronic obstructive pulmonary disease (COPD) in The Republic of Ireland.

Design: Two anonymous online and paper-copy cross-sectional surveys, piloted and mapped to the COM-B model of behaviour change, were distributed via social media and relevant gate-keepers …


Pre- And Postnatal Exposure To Pm2.5 And No2 And Blood Pressure In Children: Results From The Echo Cohort, Yu Ni, Andrew Law, Xingyu Gao, Adam A Szpiro, Christine T Loftus, Miranda Jones, Logan C Dearborn, Marnie F Hazlehurst, Allison R Sherris, Sindana Ilango, Kaja Z Lewinn, Nicole R Bush, Qi Zhao, Leonardo Trasande, Joseph T Flynn, Daniel A Enquobahrie, Ruby H N Nguyen, Tom O'Connor, Arpita K Vyas, Mingyu Zhang, Hooman Mirzakhani, Alison Hipwell, Anne Starling, Alicia K Peterson, Akhgar Ghassabian, Assiamira Ferrara, Judy Aschner, Scott Collingwood, Margaret R Karagas, Michelle Katzow, Annemarie Stroustrup, Mehtap Haktnair, Tina V Hartert, Brittney M Snyder, Sophia Jan, Anne Marie Singh, Dana Dabelea, Angela M Malek, Jennifer K Straughen, Carlos A Camargo, Miatta A Buxton, Rosalind Wright, Kecia Carroll, Keia Sanderson, Daphne Koinis Mitchell, Viren D'Sa, Christine Hockett, Anne L Dunlop, Shohreh F Farzen, Sunni L Mumford, Akram N Alshawabkeh, Hudson P Santos, Xueying Zhang, Zhongzheng Niu, Nan Ji, Carrie Breton, Donghai Liang, Catherine J Karr, Echo Cohort Consortium Mar 2026

Pre- And Postnatal Exposure To Pm2.5 And No2 And Blood Pressure In Children: Results From The Echo Cohort, Yu Ni, Andrew Law, Xingyu Gao, Adam A Szpiro, Christine T Loftus, Miranda Jones, Logan C Dearborn, Marnie F Hazlehurst, Allison R Sherris, Sindana Ilango, Kaja Z Lewinn, Nicole R Bush, Qi Zhao, Leonardo Trasande, Joseph T Flynn, Daniel A Enquobahrie, Ruby H N Nguyen, Tom O'Connor, Arpita K Vyas, Mingyu Zhang, Hooman Mirzakhani, Alison Hipwell, Anne Starling, Alicia K Peterson, Akhgar Ghassabian, Assiamira Ferrara, Judy Aschner, Scott Collingwood, Margaret R Karagas, Michelle Katzow, Annemarie Stroustrup, Mehtap Haktnair, Tina V Hartert, Brittney M Snyder, Sophia Jan, Anne Marie Singh, Dana Dabelea, Angela M Malek, Jennifer K Straughen, Carlos A Camargo, Miatta A Buxton, Rosalind Wright, Kecia Carroll, Keia Sanderson, Daphne Koinis Mitchell, Viren D'Sa, Christine Hockett, Anne L Dunlop, Shohreh F Farzen, Sunni L Mumford, Akram N Alshawabkeh, Hudson P Santos, Xueying Zhang, Zhongzheng Niu, Nan Ji, Carrie Breton, Donghai Liang, Catherine J Karr, Echo Cohort Consortium

Children’s Nutrition Research Center Staff Publications

Background: There is growing interest in understanding the link between early life exposures to ambient air pollution and childhood blood pressure; however, existing findings, largely from single site/cohort studies, are inconclusive.

Methods: We examined the association between exposures to fine particulate matter (PM2.5) and nitrogen dioxide (NO2) and blood pressure measured at age 5-12 years in 4863 U.S. children from 20 pregnancy cohorts of the NIH ECHO cohort. Point-based residential exposures were derived from spatiotemporal models with a biweekly resolution and averaged over each trimester, the whole pregnancy, and child age 0-2 years. We converted systolic (SBP) and diastolic blood …


Intraocular Amyloidosis Presenting With Secondary Glaucoma: A Clinical-Pathologic Report And Literature Review, Joseph B Lin, James C Liu, Rajendra S Apte, George J Harocopos Mar 2026

Intraocular Amyloidosis Presenting With Secondary Glaucoma: A Clinical-Pathologic Report And Literature Review, Joseph B Lin, James C Liu, Rajendra S Apte, George J Harocopos

2020-Current year OA Pubs

PURPOSE: We describe a case of intraocular amyloidosis presenting as secondary glaucoma, highlighting the clinical presentation and pathologic correlates. We also review the medical literature on all prior reported cases and discuss the diagnostic challenges pertinent to this particular case.

OBSERVATIONS: We report the case of a 72-year-old man presenting with medically intractable elevations of intraocular pressure. On clinical examination, the anterior segment was unremarkable, but there were significant vitreous opacities. The patient underwent tube shunt surgery, and a simultaneous aqueous humor biopsy was acellular and nondiagnostic. A subsequent pars plana vitrectomy demonstrated amyloid aggregates on histology. Mass spectrometric analysis …


Atypical Superotemporal Iris And Retinal Coloboma, Katina N Patterson, Margaret M Reynolds, Gregg T Lueder Mar 2026

Atypical Superotemporal Iris And Retinal Coloboma, Katina N Patterson, Margaret M Reynolds, Gregg T Lueder

2020-Current year OA Pubs

PURPOSE: To report our findings in a patient with an atypical case of supertemporal iris and retinal coloboma, and to assess its systemic associations and potential genetic causes.

OBSERVATIONS: A premature female infant born at 31 weeks gestation presented a left eye superotemporal coloboma affecting both the iris and retina. Systemic abnormalities included a left multicystic kidney, hypoplastic left kidney, atrial septal defect, ventricular septal defect, and mild pulmonary valve stenosis. Whole genome sequencing and mitochondrial deoxyribonucleic acid (DNA) sequencing were performed, and both returned negative results.

CONCLUSIONS AND IMPORTANCE: The absence of genetic findings from the negative results of …


Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Hufeng Zhou, Nathan O Stitziel, Et Al. Mar 2026

Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Hufeng Zhou, Nathan O Stitziel, Et Al.

2020-Current year OA Pubs

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. This paper compares the data quality, performance, and concordance of two widely used WGS variant callers, the Genome Analysis Toolkit (GATK) and Variant Tool set that discovers short variants (VT), using 60 532 multi-ancestry whole genomes sequenced by the Centers for Common Disease Genomics (CCDGs) of the NHGRI Genome Sequencing Program. Our findings show that both QCed GATK …


Increased Clinical Frailty Is Associated With Aortic-Related Mortality Following Fenestrated And Branched Endovascular Repair For Thoracoabdominal Aortic Aneurysm, Silvia Chen, Elizabeth Ramirez, Blake E Murphy, Anjali Sribalaskandarajah, Martin Bunker, Joel Kruger, Karina A Newhall, Rebecca A Sorber, Sara L Zettervall, Matthew P Sweet Mar 2026

Increased Clinical Frailty Is Associated With Aortic-Related Mortality Following Fenestrated And Branched Endovascular Repair For Thoracoabdominal Aortic Aneurysm, Silvia Chen, Elizabeth Ramirez, Blake E Murphy, Anjali Sribalaskandarajah, Martin Bunker, Joel Kruger, Karina A Newhall, Rebecca A Sorber, Sara L Zettervall, Matthew P Sweet

2020-Current year OA Pubs

OBJECTIVE: Clinical frailty is associated with reduced long-term survival after fenestrated and branched endovascular aortic repair (F/BEVAR). This study assesses the impact of phenotypic clinical frailty on perioperative outcomes and cause of death following F/BEVAR for thoracoabdominal aortic aneurysm.

METHODS: Patients who underwent F/BEVAR at a single institution from 2012 to 2024 were identified. The clinical frailty scale (CFS) was used to determine phenotypic frailty. Patients with a preoperative CFS of ≥4 (vulnerable) and a CFS of < 4 were compared. We used χ

RESULTS: We included 233 patients; 60 (25.8%) had a CFS of ≥4 and 173 (74.2%) had a CFS of < 4. Patients with a CFS of ≥4 were more likely to have chronic obstructive pulmonary disease (53% vs 27%) and were treated for slightly larger aneurysms (72 mm vs 68 mm; P = .04). There were no differences in symptomatic presentation, aneurysm extent, or operative complexity between patient groups. Additionally, there were no differences in perioperative complications including 30-day mortality, stroke, and spinal cord ischemia. Patients with a CFS of ≥4 had an increased length of hospitalization (11.3 days vs 6.9 days; P < .01) and were less likely to return to preoperative functional status (62.7% vs 86.1%; P < .01). The 3-year all-cause and aortic-related mortality rates were 35.2% and 5.7%, respectively. Patients with a CFS of ≥4 had a lower survival at 1 year (74% vs 89%), 3 years (39% vs 73%), and 5 years (25% vs 56%), compared with patients with a CFS of < 4 (P < .01). The most common causes of death among both groups were pulmonary comorbidities (14.0%), oncologic conditions (14.0%), cardiovascular comorbidities (11.2%), and procedure-related complications (11.2%). Patients with a CFS of ≥4 were more likely to die from aortic-related mortality (10.3% vs 5.9%; P = .02), pulmonary comorbidities (15.4 vs 13.2%; P = .04), systemic decline (7.7% vs 1.5%; P = .02), and infection (12.8% vs 7.4%; P = .03). Aortic-related mortality for the entire patient cohort was 2.2% and 5.7% at 1 year and 3 years, respectively. Aortic-related deaths among clinically frail patients were often due to an inability to tolerate further aortic operations (eg, arch repair), and secondary to follow-up nonadherence in patients with a CFS of < 4.

CONCLUSIONS: In an expanded …


Parkinson's Disease As A Somato-Cognitive Action Network Disorder, Jianxun Ren, Evan M Gordon, Nico U F Dosenbach, Et Al. Mar 2026

Parkinson's Disease As A Somato-Cognitive Action Network Disorder, Jianxun Ren, Evan M Gordon, Nico U F Dosenbach, Et Al.

2020-Current year OA Pubs

Parkinson's disease (PD) is an incurable neurological disorder that often begins insidiously with sleep disturbances and somatic symptoms, progressing to whole-body motor and cognitive symptoms


A Quantitative Cell-Based Reporter Links Tdp-43 Aggregation And Dysfunction To Define Pathogenic Mechanisms, Lohany Diax Mamede, Miwei Hu, Jaime Vaquer-Alicea, Amanda R. Titus, Patricia M. Passos, Erica Lantelme, Rachel L French, Paige A. Kirschner, Marc I. Diamond, Timothy M. Miller, Yuna M. Ayala Mar 2026

A Quantitative Cell-Based Reporter Links Tdp-43 Aggregation And Dysfunction To Define Pathogenic Mechanisms, Lohany Diax Mamede, Miwei Hu, Jaime Vaquer-Alicea, Amanda R. Titus, Patricia M. Passos, Erica Lantelme, Rachel L French, Paige A. Kirschner, Marc I. Diamond, Timothy M. Miller, Yuna M. Ayala

2020-Current year OA Pubs

TDP-43 pathology is a hallmark of fatal neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and limbic-predominant age-related TDP-43-encephalopathy (LATE). In affected patients, cytoplasmic TDP-43 aggregates are accompanied by disruption of its normal nuclear localization and function. Because TDP-43 is an RNA binding protein that controls transcript processing, including repression of cryptic exon splicing, its loss leads to dysregulation of gene expression. Despite its central significance in disease, the connection between TDP-43 aggregation and dysfunction remains poorly understood, and models to study the underlying mechanisms are limited. Here, we characterize a robust and quantitative cell-based reporter that captures …


Essential Role Of Cd63 In Maintaining Corneal Epithelial Identity In The Human Limbus, Yuzuru Sasamoto, Kosei Suzuki, Shinri Sato, Catherine A.A. Lee, Gabrielle Martin, Bruce R. Ksander, Markus H. Frank, Natasha Y. Frank Mar 2026

Essential Role Of Cd63 In Maintaining Corneal Epithelial Identity In The Human Limbus, Yuzuru Sasamoto, Kosei Suzuki, Shinri Sato, Catherine A.A. Lee, Gabrielle Martin, Bruce R. Ksander, Markus H. Frank, Natasha Y. Frank

Research outputs 2022 to 2026

Purpose: Building on the identification of ABCB5 as a marker of limbal stem cells (LSCs), this study examines CD63, a newly identified molecule co-expressed with ABCB5 in limbal epithelial cells, to define its role in maintaining corneal epithelial cell identity. Methods: RNA sequencing (RNA-seq) was performed on flow cytometry–sorted Abcb5-positive and Abcb5-negative murine corneal epithelial cells. CD63 expression in human corneal tissue was assessed by immunostaining. CD63 was silenced in cultured human limbal epithelial cells using siRNA-mediated knockdown and resulting molecular and cellular changes were analyzed by qRT-PCR, flow cytometry, RNA-seq, Western blotting, and cell proliferation assays. Results: RNA-seq analysis …


Measuring Plantar Flexor Voluntary Activation And Maximal Voluntary Contraction In A Portable, Seated Method: A Validity And Reliability Study, Molly E. Coventry, Andrea B. Mosler, Paola T. Chivers, Brady D. Green, Ebonie K. Rio, Myles C. Murphy Mar 2026

Measuring Plantar Flexor Voluntary Activation And Maximal Voluntary Contraction In A Portable, Seated Method: A Validity And Reliability Study, Molly E. Coventry, Andrea B. Mosler, Paola T. Chivers, Brady D. Green, Ebonie K. Rio, Myles C. Murphy

Research outputs 2022 to 2026

Background: Voluntary activation testing quantifies the ability of the motor nervous system to produce maximal force. Laboratory assessment of ankle plantar flexor voluntary activation is common, but field testing in practical settings is limited by equipment portability. We aimed to compare plantar flexor voluntary activation and maximal voluntary contraction (MVC) using a portable device with a standardised laboratory method and evaluate the test–retest reliability of the portable protocol. Methods: We performed a pseudo-randomised, crossover design. Participants completed two protocols: (1) portable force plate testing and (2) a laboratory-based isokinetic dynamometer. Voluntary activation was assessed using twitch interpolation via tibial nerve …


Physical Activity And Exercise Patterns Of Submariners In Land And Sea Environments, Benjamin Kirk, Georgios Mavropalias, Anthony Blazevich, Jodie Cochrane Wilkie, Aus Molan, Kazunori Nosaka Mar 2026

Physical Activity And Exercise Patterns Of Submariners In Land And Sea Environments, Benjamin Kirk, Georgios Mavropalias, Anthony Blazevich, Jodie Cochrane Wilkie, Aus Molan, Kazunori Nosaka

Research outputs 2022 to 2026

Introduction: Submarine environments pose unique challenges to maintaining physical activity and exercise routines due to confined spaces, demanding schedules, and limited resources. This study investigated submariners’ physical activity patterns, sleep quality, and perceived exercise barriers in both land- and sea-based settings, with the goal of informing targeted health interventions. Materials and Methods: Ethics approval was granted by the Defence Science and Technology Group and Edith Cowan University review panels. This cross-sectional study surveyed 21 Royal Australian Navy submariners (25-48 years; 18 male) using a modified version of the International Physical Activity Questionnaire. Participants reported weekly engagement in general physical activity …


Preliminary Evidence Of Blood Dna Methylation Changes In Pregnant Women Adhering To A Mediterranean Diet, Grace Tavelli, Nikki Schultz, Joanna Brisbane, Nina Kresoje, Samantha Lodge, Jeremy K. Nicholson, Nicola J. Armstrong, Desiree Silva, Nina D’Vaz, David Martino Mar 2026

Preliminary Evidence Of Blood Dna Methylation Changes In Pregnant Women Adhering To A Mediterranean Diet, Grace Tavelli, Nikki Schultz, Joanna Brisbane, Nina Kresoje, Samantha Lodge, Jeremy K. Nicholson, Nicola J. Armstrong, Desiree Silva, Nina D’Vaz, David Martino

Research outputs 2022 to 2026

Background/Objectives: Consumption of a Mediterranean diet (MD) has been associated with reduced incidence of non-communicable diseases and reduced overall mortality, with epigenomic effects representing plausible mediators. The aim of this pilot study was to explore potential epigenetic associations between DNA methylation markers in blood and adherence to an MD in pregnancy. Methods: Fifty-two pregnant women with high or low adherence to an MD throughout pregnancy, who participated in the BioMood ORIGINS study, were selected using an extremes-of-exposure design. DNA methylation (DNAm) profiles from whole blood were generated using the TWIST human methylome panel. We conducted both genome-wide and candidate gene-based …