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Articles 4321 - 4350 of 44976

Full-Text Articles in Medical Sciences

Egg White Hydrolysate In Hypertension: A Mechanistic Investigation Of Gut Microbiota Dependent And Independent Pathways, Emerson David Nolasco Aug 2025

Egg White Hydrolysate In Hypertension: A Mechanistic Investigation Of Gut Microbiota Dependent And Independent Pathways, Emerson David Nolasco

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

Cardiovascular diseases are one of the leading causes of mortality worldwide in which hypertension is a risk factor. Present pharmacological interventions require long-term adherence to the therapy and are often associated with undesirable side effects. Moreover, treatments have overlooked the role of the microbiome in the development of hypertension. Egg white hydrolysate (EWH) has exhibited antihypertensive properties with potential to be used as a natural alternative for the prevention and management of hypertension. However, EWH peptide’s effect on the gut microbiome remains yet to be elucidated. Studies have described that a portion of the ingested protein can remain undigested as …


Genotype Distribution Of Human Papillomavirus Among Women With Cervical Cancer Stratified By Hiv Status In Tanzania, Alita Mrema, Mamsau Ngoma, Emmanuel L. Lugina, Atukuzwe Kahakwa, Chacha Josiah Mwita, Salama Iddy, Eulade Rugengamizi, Kandali Samwel, John Ngowi, Salum J. Lidenge, Charles Wood, Julius Mwaiselage Aug 2025

Genotype Distribution Of Human Papillomavirus Among Women With Cervical Cancer Stratified By Hiv Status In Tanzania, Alita Mrema, Mamsau Ngoma, Emmanuel L. Lugina, Atukuzwe Kahakwa, Chacha Josiah Mwita, Salama Iddy, Eulade Rugengamizi, Kandali Samwel, John Ngowi, Salum J. Lidenge, Charles Wood, Julius Mwaiselage

School of Medicine Faculty Publications

Background Cervical cancer (CC) is the leading cancer among women in Tanzania, especially among those between the ages of 15 and 44. The prevalence of high-risk Human papillomavirus (HR-HPV)-16/18 women in the general population at any given time is 3.3%. HR-HPVs 16 or 18 are the primary cause of CC. The distribution of HPV genotypes among women with CC according to HIV status is unknown in Tanzania. This study aimed to determine the HPV genotype distribution according to HIV status among women with CC in Tanzania. Methods This cross-sectional study was done at Ocean Road Cancer Institute (ORCI) in Tanzania …


The Microrna Mir-30a Blocks Adipose Tissue Fibrosis Accumulation In Obesity, Pradip K Saha, Robert Sharp, Aaron R Cox, Rabie Habib, Michael J Bolt, Jessica B Felix, Claudia E Ramirez Bustamante, Xin Li, Sung Yun Jung, Kang Ho Kim, Kai Sun, Huaizhu Wu, Samuel Klein, Sean M Hartig Aug 2025

The Microrna Mir-30a Blocks Adipose Tissue Fibrosis Accumulation In Obesity, Pradip K Saha, Robert Sharp, Aaron R Cox, Rabie Habib, Michael J Bolt, Jessica B Felix, Claudia E Ramirez Bustamante, Xin Li, Sung Yun Jung, Kang Ho Kim, Kai Sun, Huaizhu Wu, Samuel Klein, Sean M Hartig

Faculty, Staff and Student Publications

White adipose tissue (WAT) fibrosis occurring in obesity contributes to the inflammatory and metabolic comorbidities of insulin resistance and type 2 diabetes, yet the mechanisms involved remain poorly understood. Here, we report a role for the broadly conserved miRNA miR-30a as a regulator of WAT fibrosis and systemic glucose metabolism. Mice modified to express miR-30a at elevated levels in adipose tissues maintain insulin sensitivity coupled with reduced fatty liver disease when fed a high-fat diet. These effects were attributable to cell-autonomous functions of miR-30a that potently increase expression of adipocyte-specific genes. Proteomic screening revealed miR-30a limits profibrotic programs in subcutaneous …


A Systematic Clinical Framework For Postimplantation Monitoring In Thalamic Neuromodulation: Insights From Twiddler's Syndrome, Shalin Shah, Ganne Chaitanya, Jeston Chin, Nicholas Delcimmuto, Jay R Gavvala Aug 2025

A Systematic Clinical Framework For Postimplantation Monitoring In Thalamic Neuromodulation: Insights From Twiddler's Syndrome, Shalin Shah, Ganne Chaitanya, Jeston Chin, Nicholas Delcimmuto, Jay R Gavvala

Faculty, Staff and Student Publications

This case described a 25-year-old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic-clonic seizures despite optimal medication. Presurgical evaluations revealed multifocal epilepsy with right hemispheric involvement and diffuse band heterotopia. Given the extensive neurophysiological and radiographic findings, DBS was chosen over resective surgery. Following implantation in December 2023, initial stimulation settings resulted in some seizure control but also development of new symptoms, including shock-like sensations down her neck. After 43 seizure-free …


Does Midbrain Atrophy Distinguish Progressive Supranuclear Palsy From Frontotemporal Dementia?, Mauro César Quintão E Silva Cunningham, Sarah Teixeira Camargos, Vinícius Ribeiro Jeunon, Natalia Pessoa Rocha, Antônio Lúcio Teixeira, Thiago De Oliveira Maciel, Elisa De Paula França Resende, Francisco Eduardo Costa Cardoso, Paulo Caramelli, Leonardo Cruz De Souza Aug 2025

Does Midbrain Atrophy Distinguish Progressive Supranuclear Palsy From Frontotemporal Dementia?, Mauro César Quintão E Silva Cunningham, Sarah Teixeira Camargos, Vinícius Ribeiro Jeunon, Natalia Pessoa Rocha, Antônio Lúcio Teixeira, Thiago De Oliveira Maciel, Elisa De Paula França Resende, Francisco Eduardo Costa Cardoso, Paulo Caramelli, Leonardo Cruz De Souza

Faculty, Staff and Student Publications

Background: The diagnostic value of midbrain atrophy for distinguishing behavioral variant frontotemporal dementia (bvFTD) from progressive supranuclear palsy (PSP) is unclear.

Objective: To investigate whether measures of midbrain atrophy differentiate PSP from bvFTD.

Methods: We included four groups: healthy controls (n = 19), PSP-Richardson syndrome (n = 20), bvFTD (n = 19) and Parkinson's disease (PD; n = 12). The following quantitative and qualitative measures were calculated: Hummingbird sign rating scale [HBS-RS], global midbrain atrophy [GMA], midbrain area, midbrain/pons ratio, the Magnetic Resonance Parkinsonism Index (MRPI), the MRPI 2.0 and brainstem volume.

Results: Compared to controls, PSP and bvFTD had …


Sex Differences In Etiologies, Risk Factors, And Outcomes Among Young Adult Patients With Acute Ischemic Stroke, Ekta G Shah, Manish Bhojwani, Kelly Chang, Deepa Dongarwar, Nicole R Gonzales, Erica Jones, Audrey Sarah Cohen, Anjail Z Sharrief Aug 2025

Sex Differences In Etiologies, Risk Factors, And Outcomes Among Young Adult Patients With Acute Ischemic Stroke, Ekta G Shah, Manish Bhojwani, Kelly Chang, Deepa Dongarwar, Nicole R Gonzales, Erica Jones, Audrey Sarah Cohen, Anjail Z Sharrief

Faculty, Staff and Student Publications

Background: The incidence of ischemic stroke is increasing among young adults. Several studies have demonstrated sex differences in risk and outcomes; however, findings are inconsistent. We sought to evaluate sex differences in stroke risk factors, etiology, and disposition in a diverse cohort of patients admitted to a comprehensive stroke center for evaluation.

Methods: We conducted a retrospective study of patients 18-45 years admitted between January 1, 2015 and September 30, 2021 with an acute ischemic stroke. Patient demographics, risk factors, and disposition were extracted from our institutional inpatient stroke registry and inpatient electronic medical record. Stroke etiology was assigned based …


Syncope As The First Clue To A Congenital Heart Defect, Ravi Soni, Victoria Morris, Benjamin Karfunkle Aug 2025

Syncope As The First Clue To A Congenital Heart Defect, Ravi Soni, Victoria Morris, Benjamin Karfunkle

Faculty, Staff and Student Publications

No abstract provided.


Poor Correlation Between Inflammatory And Brain Injury Biomarkers After Neonatal Intraventricular Hemorrhage: A Pilot Study, Ankit Agarwal, Miriam Zamorano, Aidan Collier, Braden Oldham, Kaleigh Riggs-Harpur, Thao L Nguyen, David I Sandberg, Stephen A Fletcher, Manish N Shah, Brandon A Miller Aug 2025

Poor Correlation Between Inflammatory And Brain Injury Biomarkers After Neonatal Intraventricular Hemorrhage: A Pilot Study, Ankit Agarwal, Miriam Zamorano, Aidan Collier, Braden Oldham, Kaleigh Riggs-Harpur, Thao L Nguyen, David I Sandberg, Stephen A Fletcher, Manish N Shah, Brandon A Miller

Faculty, Staff and Student Publications

Background: This study investigated changes in hemoglobin and neuroinflammatory and brain injury biomarkers (tumor necrosis factor-alpha [TNF-α] and glial fibrillary acidic protein [GFAP]) in early stages of cerebrospinal fluid (CSF) diversion in preterm neonates with intraventricular hemorrhage (IVH). We hypothesized that patients with higher CSF hemoglobin levels would have higher TNF-α and GFAP levels.

Methods: This prospective study included infants with grade 3 or 4 IVH. All had ventricular reservoirs that were placed following standard neurosurgical care. The first CSF sample was collected on the day of reservoir placement. Subsequent samples were from clinically indicated CSF withdraws to decompress ventricles. …


Traumatic Brain Injury And Risk Of Malignant Brain Tumors In Civilian Populations, Sandro Marini, Amr R Alwakeal, Hunter Mills, Joshua D Bernstock, Ahmad Mashlah, Muhammad T Hassan, Jakob Gerstl, Farid Radmanesh, Gundolf Schenk, Sharat Israni, Rachel Grashow, E Antonio Chiocca, Cathra Halabi, Anthony Digiorgio, Stephen T Magill, Geoffrey T Manley, Saef Izzy, Ross Zafonte Aug 2025

Traumatic Brain Injury And Risk Of Malignant Brain Tumors In Civilian Populations, Sandro Marini, Amr R Alwakeal, Hunter Mills, Joshua D Bernstock, Ahmad Mashlah, Muhammad T Hassan, Jakob Gerstl, Farid Radmanesh, Gundolf Schenk, Sharat Israni, Rachel Grashow, E Antonio Chiocca, Cathra Halabi, Anthony Digiorgio, Stephen T Magill, Geoffrey T Manley, Saef Izzy, Ross Zafonte

Faculty, Staff and Student Publications

Importance: A 2024 US study reported that veterans of the Iraq and Afghanistan wars affected by traumatic brain injury (TBI) had an increased risk of developing brain tumors. However, studies among civilians have shown conflicting results and have not replicated the association between TBI and brain tumor risk.

Objective: To examine whether history of TBI in US adult civilians is associated with a risk of subsequent development of malignant brain tumors.

Design, setting, and participants: This retrospective cohort study used data from a tertiary academic medical center (Mass General Brigham [MGB]) patient data registry encompassing January 1, 2000, to January …


The Effect Of Maternal Antioxidant Vitamin Supplementation On Maternal And Cord Blood Adiponectin Concentrations, Jessica L Pippen, Paula Mcgee, James M Roberts, Leslie Myatt, Michael W Varner, Alan T N Tita, Ronald J Wapner, John M Thorp, Brian M Mercer, Beth A Plunkett, Sean C Blackwell, Anthony Sciscione, George R Saade Aug 2025

The Effect Of Maternal Antioxidant Vitamin Supplementation On Maternal And Cord Blood Adiponectin Concentrations, Jessica L Pippen, Paula Mcgee, James M Roberts, Leslie Myatt, Michael W Varner, Alan T N Tita, Ronald J Wapner, John M Thorp, Brian M Mercer, Beth A Plunkett, Sean C Blackwell, Anthony Sciscione, George R Saade

Faculty, Staff and Student Publications

Adiponectin is a hormone that modulates glucose regulation and fatty acid oxidation. Low adiponectin concentration has been associated with increased insulin resistance. Studies show a beneficial effect of vitamin E supplementation on insulin sensitivity. We aimed to investigate the association of prenatal antioxidant supplementation with increased adiponectin concentrations in pregnant participants and their newborn infants.Secondary analysis of a randomized control trial of prenatal vitamin C and E supplementation to prevent preeclampsia in low-risk nulliparous participants. Plasma of participants at time of randomization (9-16 weeks gestation) and delivery, and neonatal cord blood were analyzed by specific enzyme-linked immunosorbent assay for adiponectin …


Exploring High-Dose Olanzapine For Psychosis In An Adolescent With Treatment-Resistant Schizophrenia, Shaurya Aggarwal, Shweta P Sahu, Puja Shah, Micah J Knobles Aug 2025

Exploring High-Dose Olanzapine For Psychosis In An Adolescent With Treatment-Resistant Schizophrenia, Shaurya Aggarwal, Shweta P Sahu, Puja Shah, Micah J Knobles

Faculty, Staff and Student Publications

High-dose olanzapine has shown efficacy in treating adult patients with treatment-resistant schizophrenia, though evidence in adolescents remains limited. This report describes the case of a 17-year-old male patient with treatment-resistant schizophrenia who showed significant clinical improvement with a supratherapeutic dose of orally disintegrating olanzapine. The patient, with a 16-month history of schizophrenia and multiple hospitalizations, presented with acute psychosis and aggression after medication non-adherence. Following failed trials of paliperidone and standard-dose olanzapine, and unable to initiate clozapine due to blood draw refusal, the patient was gradually titrated to 50 mg daily of orally disintegrating olanzapine (20 mg early morning, 30 …


Associative Coding Of Conditioned Fear In The Thalamic Nucleus Reuniens In Rodents And Humans, Tuğçe Tuna, Michael S Totty, Muhammad Badarnee, Flávio Afonso Gonçalves Mourão, Shaun Peters, Mohammad R Milad, Stephen Maren Aug 2025

Associative Coding Of Conditioned Fear In The Thalamic Nucleus Reuniens In Rodents And Humans, Tuğçe Tuna, Michael S Totty, Muhammad Badarnee, Flávio Afonso Gonçalves Mourão, Shaun Peters, Mohammad R Milad, Stephen Maren

Faculty, Staff and Student Publications

The nucleus reuniens (RE) is a midline thalamic structure interconnecting the medial prefrontal cortex (mPFC) and the hippocampus (HPC). Recent work in both rodents and humans implicates the RE in the adaptive regulation of emotional memories, including the suppression of learned fear. However, the neural correlates of aversive learning in the RE of rodents and humans remain unclear. To address this, we recorded RE activity in humans (BOLD fMRI) and rats (fiber photometry) during Pavlovian fear conditioning and extinction. In both rats and humans, we found that conditioned stimulus (CS)-evoked activity in RE reflects the associative value of the CS. …


Machine Learning Based Medical Ultrasound Image Classification And Grad-Cam Interpretation, Victoria C. Hemphill Aug 2025

Machine Learning Based Medical Ultrasound Image Classification And Grad-Cam Interpretation, Victoria C. Hemphill

All Theses

This work takes a step in creating a diagnostic tool for the classification decision process of Achilles tendinopathy using ultrasound images. An attention-based multiple instance learning model is developed to classify the images. Typically, doctors capture multiple ultrasound images of the Achilles tendon during a study to determine a complete diagnosis. Multiple instance models adopt this behavior by providing a single label for a set of instances (images). The images are grouped into ”bags” at the study level and passed into the model. The MIL model then uses its attention property to assign an importance score to each image to …


Impact Of S-Phase Kinase Protien 2 Blockades On Hematopoetic Stem Cell Metabolism, Nicole Elmaraghy Aug 2025

Impact Of S-Phase Kinase Protien 2 Blockades On Hematopoetic Stem Cell Metabolism, Nicole Elmaraghy

Electronic Theses, Projects, and Dissertations

Hematopoietic stem and progenitor cells (HSPCs) quiescence is vital for the success of bone marrow transplantation, as it preserves long term self- renewal and prevents premature exhaustion (Takubo et al., 2013; Wilson et al., 2008). However, bone marrow transplant (BMT) failure remains a clinical challenge, often due to lack of long-term engraftment and insufficient stress reliance. Both of these characteristics are tightly linked to disrupted stem cell quiescence and metabolic imbalance (Anso et al., 2017; Vannini et al., 2016). One key player is S-phase kinase protein (SKP2), an E3 ubiquitin ligase that targets cell cycle inhibitors, like p27, for proteosome …


High Risk Of Drug-Resistant Tuberculosis In Igra-Negative Contacts: Should Preventive Treatment Be Considered?, Thomas Theo Brehm, Niklas Köhler, Hans-Peter Grobbel, Jürgen Welling, Anna Maria Mandalakas, Vinicius Fava, Erwin Schurr, Christoph Lange Aug 2025

High Risk Of Drug-Resistant Tuberculosis In Igra-Negative Contacts: Should Preventive Treatment Be Considered?, Thomas Theo Brehm, Niklas Köhler, Hans-Peter Grobbel, Jürgen Welling, Anna Maria Mandalakas, Vinicius Fava, Erwin Schurr, Christoph Lange

Faculty, Staff and Students Publications

Purpose: Deciding whether to provide preventive treatment to contacts of individuals with multidrug-resistant (MDR) tuberculosis is complex.

Methods: We present the diagnostic pathways, clinical course and outcome of tuberculosis treatment in eight siblings from a single family. Tuberculosis disease was diagnosed by Mycobacterium tuberculosis culture and molecular detection of M. tuberculosis-specific DNA from bronchopulmonary specimens using GeneXpert® MTB/RIF. M. tuberculosis infection was diagnosed by an interferon-gamma release assay (IGRA; QuantiFERON®-TB Gold Plus). Whole exome sequencing for genetic predisposition to mycobacterial infection was performed in one patient.

Results: Six of eight siblings aged 16-20 years from a migrant family of Somali …


A Clinic-Based Healthcare Transition Preparation Program For Adolescents And Young Adults With Type 1 Diabetes: Study Protocol For The Shift Randomized Clinical Trial, Laura J Caccavale, Randi Streisand, Jessica Gokee Larose, Edmond P Wickham, Marisa E Hilliard, Laura M Thornton, Melanie K Bean Aug 2025

A Clinic-Based Healthcare Transition Preparation Program For Adolescents And Young Adults With Type 1 Diabetes: Study Protocol For The Shift Randomized Clinical Trial, Laura J Caccavale, Randi Streisand, Jessica Gokee Larose, Edmond P Wickham, Marisa E Hilliard, Laura M Thornton, Melanie K Bean

Faculty, Staff and Students Publications

Background: A striking 83 % of adolescents and young adults (AYA) with type 1 diabetes (T1D) have glycemic outcomes outside the target range, placing them at risk for acute and chronic complications. Identification of evidence-based strategies to enhance T1D management in AYAs, prior to the transition from pediatric to adult healthcare, is needed to optimize AYA health and adequately prepare them for independence. We present the design of Supporting Health Improvement for Transition in T1D (SHIFT), a randomized clinical trial of a clinic-based transition preparation intervention for AYAs with T1D.

Methods: Participants will be 50 AYAs with T1D (age 16-22 …


Semaphorin 3e-Plexin-D1 Pathway Downstream Of The Luteinizing Hormone Surge Regulates Ovulation, Granulosa Cell Luteinization, And Ovarian Angiogenesis In Mice, Hanxue Zhang, Jimmy Dhillon, Paul D Soloway, Bo Shui, Seoyeon Lee, Jennifer K Grenier, Paul R Munn, M Cecilia Ljungberg, Rebecca B Williams, Rainer B Lanz, Yu-Hsiang Liao, Yi A Ren Aug 2025

Semaphorin 3e-Plexin-D1 Pathway Downstream Of The Luteinizing Hormone Surge Regulates Ovulation, Granulosa Cell Luteinization, And Ovarian Angiogenesis In Mice, Hanxue Zhang, Jimmy Dhillon, Paul D Soloway, Bo Shui, Seoyeon Lee, Jennifer K Grenier, Paul R Munn, M Cecilia Ljungberg, Rebecca B Williams, Rainer B Lanz, Yu-Hsiang Liao, Yi A Ren

Faculty, Staff and Students Publications

Ovulation is induced by the luteinizing hormone (LH) surge and accompanied by granulosa cell luteinization and ovarian angiogenesis. Semaphorin 3E (Sema3E)-Plexin-D1 pathway regulates angiogenesis in other tissues, but its role in the ovary is unknown. Evidence indicates that Sema3E-Plexin-D1 pathway plays an important role in the mouse ovary. The expression of Sema3E and its receptor, Plexin-D1, is dynamically regulated in the mouse ovary downstream of the LH surge. This regulation requires the modulation of chromatin accessibility by CCAAT/enhancer-binding proteins α and β. Intraovarian injection of recombinant Sema3E results in reduced ovulation, impaired corpus luteum formation, and aberrant ovarian angiogenesis. These …


Use Of Granulocyte-Colony Stimulating Factor For Beta-Lactam Induced Neutropenia In Children With Bacterial Meningitis, Cheng Yu Yen, Sheldon L Kaplan, Debra L Palazzi, Grant Stimes Aug 2025

Use Of Granulocyte-Colony Stimulating Factor For Beta-Lactam Induced Neutropenia In Children With Bacterial Meningitis, Cheng Yu Yen, Sheldon L Kaplan, Debra L Palazzi, Grant Stimes

Faculty, Staff and Students Publications

Drug induced neutropenia is an uncommon but potentially serious side effect in children receiving prolonged β-lactam antibiotic therapy. Management of β-lactam induced neutropenia in children remains challenging and often requires antibiotic therapy interruption or modification. There are limited data in pediatric patients about use of granulocyte-colony stimulating factor (G-CSF) for the treatment of drug induced neutropenia. We report the use of G-CSF for β-lactam induced neutropenia in four pediatric patients between the ages of 3 months and 18 years with bacterial meningitis in this case series.


Relapse Patterns Among Children And Adolescents With Kaposi Sarcoma In Malawi, Toni Chanroo, Allison Silverstein, Casey L Mcatee, William Kamiyango, Jimmy Villiera, Parth S Mehta, Erin Peckham-Gregory, Mark Zobeck, Michael E Scheurer, Carl E Allen, Rizine Mzikamanda, Nmazuo W Ozuah, Nader Kim El-Mallawany Aug 2025

Relapse Patterns Among Children And Adolescents With Kaposi Sarcoma In Malawi, Toni Chanroo, Allison Silverstein, Casey L Mcatee, William Kamiyango, Jimmy Villiera, Parth S Mehta, Erin Peckham-Gregory, Mark Zobeck, Michael E Scheurer, Carl E Allen, Rizine Mzikamanda, Nmazuo W Ozuah, Nader Kim El-Mallawany

Faculty, Staff and Students Publications

Kaposi Sarcoma (KS) is a common childhood cancer in Malawi, but few studies have exploredclinical characteristicsofrelapsed disease. We aimed to characterize clinical patterns of relapse to improve treatment and, ultimately, long-term survival in patients with pediatric KS.A retrospective cohort study was conducted among patients ages < 19 years of age at time of KS diagnosis in Lilongwe, Malawi between August 1, 2010 and March 15, 2020. Specifically, emphasis was placed on patients who had relapsed disease and excluded patients with refractory disease or those who died whilst receiving front-line treatment. Salvage therapy typically involved an intensified chemotherapy regimen compared to front-line therapy—namely nonliposomaldoxorubicin plus bleomycin/vincristine or paclitaxel monotherapy.One-hundred and ninety patients with pediatric KS were included in this analysis, 50 of whom experienced relapse (26%).Older median age was associated with occurrence of relapse (10 vs 6.7 years, p-value = 0.004). Median time from diagnosis to first relapse was 10.6 months (range 2.3–49 months). Three-year post-relapse overall survival (OS) for the entire cohort was 60% with a median follow-up time of 4.7 years after relapse.Survival was significantly higher for patients who relapsed with the woody edema clinical phenotype of pediatric KS versus those with visceral/disseminated disease—3-year OS 79% (95% CI 62–100) versus 29% (14–61).These data demonstrate potential for continued survival after KS relapse in the pediatric population and identify subsets of high-risk patients. The higher mortality observed in patients with visceral/disseminated KS highlights the need for improved therapeutic strategies.


Fold-And-Fuse Neurulation In Zebrafish Requires Vangl2, Jacalyn Macgowan, Mara Cardenas, Margot Kossmann Williams Aug 2025

Fold-And-Fuse Neurulation In Zebrafish Requires Vangl2, Jacalyn Macgowan, Mara Cardenas, Margot Kossmann Williams

Faculty, Staff and Students Publications

Shaping of the future brain and spinal cord during neurulation is an essential component of early vertebrate development. In amniote embryos, primary neurulation occurs through a "fold-and-fuse" mechanism by which the edges of the neural plate fuse into the hollow neural tube. Failure of neural fold fusion results in neural tube defects (NTDs), which are among the most devastating and common congenital anomalies worldwide. Unlike amniotes, the zebrafish neural tube develops largely via formation of a solid neural keel that later cavitates to form a midline lumen. Although many aspects of primary neurulation are conserved in zebrafish, including neural fold …


The Psychiatric Genomics Consortium: Discoveries And Directions, Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M Mcintosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O'Connell, Michael C O'Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan, Coordinating Committee Of The Psychiatric Genomics Consortium Aug 2025

The Psychiatric Genomics Consortium: Discoveries And Directions, Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M Mcintosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O'Connell, Michael C O'Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan, Coordinating Committee Of The Psychiatric Genomics Consortium

Faculty, Staff and Students Publications

The Psychiatric Genomics Consortium (PGC) has fueled discoveries of common and rare genetic variation contributing to liability to many psychiatric and neurodevelopmental conditions. This narrative review reflects on major findings from the past half decade of research by this international group of investigators in five priority areas: discovery of common variants using GWAS; rare variation and its interplay with polygenic risk; leveraging genetics to go beyond diagnostic boundaries; ascribing functional attributes to genomic discoveries; and developing and implementing processes for data sharing, outreach to various communities, and training. The insights gained in these domains frame the agenda for the next …


Prevalence Of Fibrosis In Hepatic Explants And Biopsies From Individuals With Urea Cycle Disorders, Saima Ali, Aisha Nisar, Anqing Zhang, Sandesh Nagamani, Nathalie M Aceves-Ewing, Brandy Rawls, Thu Quan, Greg Enns, John Goss, Daniel H Leung, Benjamin L Shneider, Shilpa Jain, Florette K Hazard, Deborah Schady, Lindsay C Burrage Aug 2025

Prevalence Of Fibrosis In Hepatic Explants And Biopsies From Individuals With Urea Cycle Disorders, Saima Ali, Aisha Nisar, Anqing Zhang, Sandesh Nagamani, Nathalie M Aceves-Ewing, Brandy Rawls, Thu Quan, Greg Enns, John Goss, Daniel H Leung, Benjamin L Shneider, Shilpa Jain, Florette K Hazard, Deborah Schady, Lindsay C Burrage

Faculty, Staff and Students Publications

Background: Various forms of liver disease have been increasingly reported in individuals with urea cycle disorders (UCDs). In this study, we performed the first systematic and standardized histopathological assessment of the prevalence of fibrosis and steatosis in a large sample of hepatic explants and biopsies from individuals with UCDs at two liver transplantation centers.

Methods: Sixty-seven hepatic tissue samples from 66 individuals with UCDs were staged by two pathologists for hepatic fibrosis and steatosis using standard scoring systems at two large liver transplantation centers in the United States. Histopathological findings were correlated with clinical parameters, including UCD type, laboratory parameters, …


Effective Algorithm To Differentiate Nbs Mcadd Cases From Carriers And Non-Carriers And An Assessment Of The Utility Of The Second Newborn Screen For Mcadd, Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton Aug 2025

Effective Algorithm To Differentiate Nbs Mcadd Cases From Carriers And Non-Carriers And An Assessment Of The Utility Of The Second Newborn Screen For Mcadd, Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton

Faculty, Staff and Students Publications

False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood …


The Influence Of Ultra-Wide Field Fluorescein Angiography On The Diagnosis And Management Of Diabetic Retinopathy, Nicole K Scripsema, Tala Al-Khaled, Amy Song, Joelle A Hallak, Rawan Allozi, Aziz A Khanifar, Thanos D Papakostas, Christina Y Weng, Ronald C Gentile, J Peter Campbell, Jessica G Lee, Gennady Landa, Felix Y Chau, William F Mieler, Meenakashi Gupta, Amani A Fawzi, Judy E Kim, Jennifer I Lim, Robison Vernon Paul Chan Aug 2025

The Influence Of Ultra-Wide Field Fluorescein Angiography On The Diagnosis And Management Of Diabetic Retinopathy, Nicole K Scripsema, Tala Al-Khaled, Amy Song, Joelle A Hallak, Rawan Allozi, Aziz A Khanifar, Thanos D Papakostas, Christina Y Weng, Ronald C Gentile, J Peter Campbell, Jessica G Lee, Gennady Landa, Felix Y Chau, William F Mieler, Meenakashi Gupta, Amani A Fawzi, Judy E Kim, Jennifer I Lim, Robison Vernon Paul Chan

Faculty, Staff and Students Publications

Purpose: To study the influence of ultra-widefield fluorescein angiography (FA) on the diagnosis and management of diabetic retinopathy (DR).

Methods: Ten experts in DR completed an online survey in which they were asked to diagnose and manage DR cases using different imaging modalities. Experts independently reviewed 20 cases of DR and provided a diagnosis and management plan for each case, first based on ultra-widefield color-free and red-free images alone and again with the corresponding ultra-widefield FA images. Experts were polled on their diagnostic confidence, use of FA in clinical practice, and opinions on the value of ultra-widefield FA. Based on …


Contribution Of Pannexin Channels To Afterimage Signals In The Amphibian Retina, Yufei Liu, Nick Libian, Zheng Jiang, Wen Shen Aug 2025

Contribution Of Pannexin Channels To Afterimage Signals In The Amphibian Retina, Yufei Liu, Nick Libian, Zheng Jiang, Wen Shen

Faculty, Staff and Students Publications

Pannexin 1 (Panx1) forms large-pore, single-membrane channels that connect the intracellular and extracellular environments, permitting the passage of ions and small molecules such as ATP. Panx1 channels are involved in diverse signaling pathways that contribute to various physiological processes, including sensory processing, although their precise mechanisms of action remain incompletely understood. This study reveals a Panx1-mediated mechanism regulating visual signal processing in the amphibian retina. Using immunolabeling and confocal imaging, we localized Panx1 channels in the cone-dominated On-bipolar cells, specifically at both somas and axon terminals. Whole-cell patch-clamp recordings showed that these channels have high permeability to Cl⁻ ions, which …


Generation Of Human Induced Pluripotent Stem Cell Lines From An Age-Related Macular Degeneration Patient With Hyperreflective Foci Overlying Drusen (Rfsci002-A) And An Unaffected Sibling (Rfsci001-A), Adnin Ashrafi, Wendy Runyon, Sam Hu, Ritu Kumar, Timothy Catchpole, Ajeet Singh, Rinki Ratnapriya, Karl G Csaky, Srinivasa R Sripathi Aug 2025

Generation Of Human Induced Pluripotent Stem Cell Lines From An Age-Related Macular Degeneration Patient With Hyperreflective Foci Overlying Drusen (Rfsci002-A) And An Unaffected Sibling (Rfsci001-A), Adnin Ashrafi, Wendy Runyon, Sam Hu, Ritu Kumar, Timothy Catchpole, Ajeet Singh, Rinki Ratnapriya, Karl G Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) is a leading cause of vision loss, driven by retinal pigment epithelium (RPE) and photoreceptor degeneration. A key feature is drusen accumulation between the RPE and Bruch's membrane. In intermediate AMD, hyperreflective foci (HRF)-bright intraretinal lesions visible on optical coherence tomography (OCT) imaging-serve as biomarkers of disease progression. To study HRF mechanisms, we generated induced pluripotent stem cell (iPSC) lines from an AMD patient with HRF overlying drusen (RFSC4) and their unaffected sibling (RFSC3). These iPSC models offer a platform to explore disease mechanisms and develop therapies for AMD.


Common Cast Complications, Jessica A Mcgraw-Heinrich, Jon C Wall, Scott B Rosenfeld Aug 2025

Common Cast Complications, Jessica A Mcgraw-Heinrich, Jon C Wall, Scott B Rosenfeld

Faculty, Staff and Students Publications

Complications can arise from the application, wear, and removal of casts and splints. This text reviews common complications, risk factors, and prevention strategies while exploring the medical-legal implications of these complications. Being aware of common pitfalls can help reduce risk and promote optimal patient outcomes.

Key concepts: (1)Proper and judicious casting and splinting techniques are critical to prevent complications.(2)Thermal injuries can occur due to excessive curing heat and cast saw burns.(3)Poor cast molding can lead to skin sores and loss of fracture reduction.(4)Patients should be comfortable in their cast, and uncontrolled pain warrants investigation.


Improving Pediatric Heart Failure Outcomes Through Collaboration And Innovation: The Current Status Of The Advanced Cardiac Therapies Improving Outcomes Network (Action), Lydia K Wright, David M Peng, Joseph A Spinner, Jenna M Murray, Matthew J O'Connor, Christina J Vanderpluym, David N Rosenthal, Lauren Smyth, Angela Lorts Aug 2025

Improving Pediatric Heart Failure Outcomes Through Collaboration And Innovation: The Current Status Of The Advanced Cardiac Therapies Improving Outcomes Network (Action), Lydia K Wright, David M Peng, Joseph A Spinner, Jenna M Murray, Matthew J O'Connor, Christina J Vanderpluym, David N Rosenthal, Lauren Smyth, Angela Lorts

Faculty, Staff and Students Publications

The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) was founded in 2017 as a learning health care system to bring together all stakeholders with the aim of improving outcomes for pediatric and congenital heart disease patients with heart failure. From an initial focus on the ventricular assist device (VAD) population, work in the network has expanded to encompass the scope of heart failure in these patients. Through the collection and use of real-world data, the field has gained greater understanding of best practices in care of these patients, as well as improved access to devices with pediatric labeling of devices …


Measuring The Impact Of A Delay In Care On Pediatric Otolaryngologic Surgery Completion, Geethanjeli N Mahendran, Ching Siong Tey, Mary Frances Musso, Grace Shebha Anand, Jeffrey Larson, Mitesh Mehta, Lara Reichert, Kara Prickett, Nikhila Pinnapureddy Raol Aug 2025

Measuring The Impact Of A Delay In Care On Pediatric Otolaryngologic Surgery Completion, Geethanjeli N Mahendran, Ching Siong Tey, Mary Frances Musso, Grace Shebha Anand, Jeffrey Larson, Mitesh Mehta, Lara Reichert, Kara Prickett, Nikhila Pinnapureddy Raol

Faculty, Staff and Students Publications

Objective: To determine if postponement of elective pediatric otorhinolaryngology surgeries results in a change in overall healthcare utilization and if there is any commensurate impact on disease progression.

Methods: We identified patients ≤18 years of age whose surgeries were postponed at the onset of the COVID-19 pandemic-related shutdown. We then tracked patients' rate of and patterns of rescheduling surgery. Surveys were also sent to caregivers to better characterize his/her decision regarding moving forward with his/her child's surgery during COVID-19.

Results: A total of 1915 pediatric patients had elective surgeries canceled, of which 992 (51.8%) were rescheduled within 4 months. No …


Differences In Wait-List Mortality: Temporary Vs Durable Circulatory Support Devices, Mahwash Kassi, Salma Zook, Duc Nguyen, Katelyn Ingram, Sapna Legha, Rayan Yousefzai, Ju Kim, Imad Hussain, Cindy M Martin, Janardhana Gorthi, Adeel Ahsan Syed, Nadia Fida, Arvind Bhimaraj, Edward A Graviss, Ashrith Guha Aug 2025

Differences In Wait-List Mortality: Temporary Vs Durable Circulatory Support Devices, Mahwash Kassi, Salma Zook, Duc Nguyen, Katelyn Ingram, Sapna Legha, Rayan Yousefzai, Ju Kim, Imad Hussain, Cindy M Martin, Janardhana Gorthi, Adeel Ahsan Syed, Nadia Fida, Arvind Bhimaraj, Edward A Graviss, Ashrith Guha

Faculty, Staff and Students Publications

Background: In 2018, changes in the United Network for Organ Sharing (UNOS) allocation system led to a shift in practices, making durable left ventricular assist devices less desirable as a bridge to transplantation compared to temporary mechanical circulatory support. This study compares the composite outcome of waitlist mortality and delisting incidence at 1 year between these two support types.

Methods: All actively listed adult patients on mechanical circulatory support listed for heart transplantation under the current UNOS system from October 2018 to October 2021 were included, excluding those with right ventricular devices, biventricular devices, total artificial hearts, and extracorporeal membrane …