Digital Commons Network^™

Cerebrotendinous Xanthomatosis Occurs At High Frequency In Ashkenazi Jews, Jennifer Hanson, Penelope E Bonnen

Faculty, Staff and Students Publications

Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas. Treatment is effective when started early, but diagnostic delays often result in individuals not being diagnosed until after the window of highest treatment efficacy. CTX is documented to occur in most global populations, however, no CTX-causing genetic variants have been reported in Ashkenazi Jews. We conducted a systematic review of every …

Insulin Clearance At Randomisation And In Response To Treatment In Youth With Type 2 Diabetes: A Secondary Analysis Of The Today Randomised Clinical Trial, Kristen J Nadeau, Silva A Arslanian, Fida Bacha, Sonia Caprio, Lily C Chao, Ryan Farrell, Kara S Hughan, Maria Rayas, Melinda Tung, Kaitlyn Cross, Laure El Ghormli

Children’s Nutrition Research Center Staff Publications

Aims/hypothesis: Insulin resistance and compensatory hyperinsulinaemia are core features leading to beta cell failure in youth-onset type 2 diabetes. Insulin clearance (IC) is also a key regulator of insulin concentrations, but few data exist on IC in youth-onset type 2 diabetes. In a secondary analysis of our Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) randomised clinical trial, we investigated potential sex-, race-, ethnicity- and treatment-related differences in IC in youth-onset type 2 diabetes and aimed to identify metabolic phenotypes associated with IC at baseline and in response to metformin, metformin plus a lifestyle intervention, and metformin …

Multiethnic Growth Standards For Fetal Body Composition And Organ Volumes Derived From 3d Ultrasonography, Katherine L Grantz, Wesley Lee, Lauren M Mack, Magdalena Sanz Cortes, Luis F Goncalves, Jimmy Espinoza, Roger B Newman, William A Grobman, Ronald J Wapner, Karin Fuchs, Mary E D'Alton, Daniel W Skupski, John Owen, Anthony Sciscione, Deborah A Wing, Michael P Nageotte, Angela C Ranzini, Edward K Chien, Sabrina Craigo, Seth Sherman, Robert E Gore-Langton, Dian He, Fasil Tekola-Ayele, Cuilin Zhang, Jagteshwar Grewal, Zhen Chen

Faculty, Staff and Student Publications

Background: A major goal of contemporary obstetrical practice is to optimize fetal growth and development throughout pregnancy. To date, fetal growth during prenatal care is assessed by performing ultrasonographic measurement of 2-dimensional fetal biometry to calculate an estimated fetal weight. Our group previously established 2-dimensional fetal growth standards using sonographic data from a large cohort with multiple sonograms. A separate objective of that investigation involved the collection of fetal volumes from the same cohort.

Objective: The Fetal 3D Study was designed to establish standards for fetal soft tissue and organ volume measurements by 3-dimensional ultrasonography and compare growth trajectories with …

Ethnoracial Disparities In Gray Matter Atrophy Are Mediated By Structural Disconnectivity In Multiple Sclerosis, Ahmed Bayoumi, Joseph A Thomas, Breanna R Alonzo, Juan Jimenez, Christopher M Orlando, Carlos A Pérez, Khader M Hasan, Jerry S Wolinsky, John A Lincoln

Faculty, Staff and Student Publications

Objective: To investigate ethnoracial disparities in gray matter (GM) atrophy, the contribution of white matter lesions and consequent structural disconnectivity among patients with multiple sclerosis (MS).

Methods: This retrospective study included 297 patients with MS (pwMS), 98 Hispanic/Latinx (H-MS), 82 non-Hispanic Black (B-MS), and 117 non-Hispanic White (W-MS). GM atrophy was assessed using univariate, voxel-based morphometry, and multivariate techniques, source-based morphometry. Structural disconnectivity secondary to white matter lesions was evaluated using the network modification tool. Mediation analyses explored relationships between ethnoracial groups, white matter lesions, structural disconnectivity, and gray matter atrophy.

Results: B-MS and H-MS generally exhibited greater gray matter …

Spatial Proteomics Of Onchocerca Volvulus With Pleomorphic Neoplasms Shows Local And Systemic Dysregulation Of Protein Expression, Lucia S. Di Maggio, Kerstin Fischer, Bruce A. Rosa, Devyn Yates, Byoung-Kyu Cho, Jessica Lukowski, Antonia Zamacona Calderon, Minsoo Son, Young Ah Goo, Nicholas O. Opoku, Gary J. Weil, Makedonka Mitreva, Peter U. Fischer

2020-Current year OA Pubs

Onchocerca volvulus is the agent of onchocerciasis (river blindness) and targeted by WHO for elimination though mass drug administration with ivermectin. A small percentage of adult female worms develop pleomorphic neoplasms (PN) which occur more frequently after ivermectin treatment. Worms with PN have a lower life expectancy and improved understanding of proteins expressed in PN and their impact on different tissues could help elucidate the mechanisms of macrofilaricidal activity of ivermectin. Within paraffin embedded nodules removed after ivermectin treatment, we detected 24 (5.6%) O. volvulus females with PN. To assess the protein inventory of the PN and identify proteins potentially …

Transcranial Vibration Stimulation At 40 Hz Induced Neural Activity And Promoted The Coupling Of Global Brain Activity And Cerebrospinal Fluid Flow, Linghan Kong, Wei Jin, Yue Jiang, Fuhua Yan, Jun Liu, Eric C Leuthardt, Guang-Zhong Yang, Yuan Feng

2020-Current year OA Pubs

BACKGROUND: Neuroscience advances have highlighted the potential of non-invasive brain stimulation in influencing cognitive and emotional processes. Conventional stimulation methods such as electrical, magnetic, and ultrasound have been studied intensively, but little is known about the mechanical stimulation.

OBJECTIVE: To investigate the effects of 40 Hz transcranial vibration stimulation (TVS) on human brain activity, specifically focusing on changes in the Amplitude of Low-Frequency Fluctuation (ALFF), fractional ALFF (fALFF) and Regional Homogeneity (ReHo) as measures of spontaneous brain activity. Additionally, this study investigates alterations in the global blood-oxygen-level-dependent (gBOLD) signal and cerebrospinal fluid (CSF) inflow coupling, which serve as indicators of …

Effect Of Midwife-Led Pelvic Floor Muscle Training On Prolapse Symptoms And Quality Of Life In Women With Pelvic Organ Prolapse In Ethiopia: A Cluster-Randomized Controlled Trial, Melese Siyoum, Rahel Nardos, Biniyam Sirak, Theresa Spitznagle, Wondwosen Teklesilasie, Ayalew Astatkie

2020-Current year OA Pubs

BACKGROUND: Pelvic organ prolapse (POP) is a common condition that can significantly impact a woman's quality of life. Pelvic floor muscle training (PFMT) is recommended as a first-line conservative treatment for prolapse, but evidence on its effectiveness from low-resource settings is limited. This study aimed to assess the effect of midwife-led PFMT on prolapse symptoms and health-related quality of life (HRQoL) among women with mild-to-moderate POP in Ethiopia.

METHODS AND FINDINGS: A community-based, parallel-groups, two-arm cluster-randomized controlled trial was conducted in Dale and Wonsho districts of Sidama Region, Ethiopia. Women with symptomatic POP stages I-III were randomized by cluster to …

Sleep Disorders Five Years After Acute Provoked Neonatal Seizures, Renée A Shellhaas, Et Al.

2020-Current year OA Pubs

OBJECTIVE: To evaluate whether abnormal sleep is associated with adverse outcomes for children who survived acute provoked neonatal seizures, and their parents.

STUDY DESIGN: This 9-center study prospectively followed newborns with acute provoked seizures. When children reached age 5 years, parents completed the Children's Sleep Habits Questionnaire (CSHQ), the Pediatric Sleep Questionnaire-Sleep Related Breathing Disorders (PSQ-SRBD) subscale, the Vineland Adaptive Behavior Scales-3, and the Hospital Anxiety Depression Scale. Children were also assessed with the Wechsler Preschool and Primary Scale of Intelligence-IV (WPPSI-IV). Spearman correlations and multivariable analyses were used to evaluate risk factors for sleep problems.

RESULTS: The mean CSHQ …

Exploring The Differences Between Brca Mutated And Hrwild-Type High Grade Serous Ovarian Cancer: A Multiomic Analysis, Ayesha B Alvero, Sharon Wu, Alex Farrell, Seongho Kim, John J Wallbillich, Ira Winer, Robert Morris, David Spetzler, Matthew L Anderson, Alberto Puccini, Nathaniel L Jones, Thomas J Herzog, Premal H Thaker, Gil Mor, Radhika P Gogoi

2020-Current year OA Pubs

OBJECTIVE: The purpose of this study was to evaluate the transcriptomic profile of BRCA1 mutant (BRCA1mut) and BRCA2 mutant (BRCA2mut) HGSOC compared to homologous recombination wild-type (HRwt) tumors utilizing the CARIS database.

METHODS: Next-generation and Whole Transcriptome Sequencing (WTS; Caris Life Sciences, Phoenix, AZ) was performed on a total of 2745 HGSOC tumor samples. BRCA mutations were defined as variants resulting in loss-of-function of the protein and HRwt was defined as samples wildtype for aberrations in both BRCA1 and BRCA2, as well as for 28 other HR genes. HRwt group was further classified into HRwt/LOH-low (< 16 %) and HRwt/LOH-high (≥16 %). Genomic analysis consists of mutation analysis and measurements of TMB and MSI. Transcriptomic analysis included identification of Differentially expressed genes (DEGs), GSEA and immune deconvolution.

RESULTS: We identified 519 …

Detection Of Alternative Lengthening Of Telomeres Via Chromogenic In Situ Hybridization For The Prognostication Of Pannets And Other Neoplasms, Christopher M Heaphy, Ta-Chiang Liu, Dengfeng Cao, Et Al.

2020-Current year OA Pubs

Molecular studies have shown alternative lengthening to telomeres (ALT) to be an important prognostic biomarker of shorter relapse-free survival (RFS) for patients with pancreatic neuroendocrine tumors (PanNETs) and other neoplasms. However, the preferred method of detecting ALT in tissue is by fluorescence in situ hybridization (FISH), which has several clinical limitations. These issues necessitate the creation of a chromogenic ALT assay that can be easily implemented into routine practice. A chromogenic in situ hybridization (CISH) assay was developed using genetically modified osteosarcoma cell lines, 20 normal pancreata, 20 ALT-positive PanNETs, and 20 ALT-negative PanNETs. Thereafter, it was validated on a …

Decreased Voluntary Alcohol Intake And Ventral Striatal Epigenetic And Transcriptional Remodeling In Male Acss2 Ko Mice, Gabor Egervari, Greg Donahue, Natalia A Quijano Cardé, Desi C Alexander, Connor Hogan, Jessica K Shaw, Erica M Periandri, Vanessa Fleites, Mariella De Biasi, Shelley L Berger

2020-Current year OA Pubs

Metabolic-epigenetic interactions are emerging as key pathways in regulating alcohol-related transcriptional changes in the brain. Recently, we have shown that this is mediated by the metabolic enzyme Acetyl-CoA synthetase 2 (Acss2), which is nuclear and chromatin-bound in neurons. Mice lacking ACSS2 fail to deposit alcohol-derived acetate onto histones in the brain and show no conditioned place preference for ethanol reward. Here, we further explored the role of this pathway during voluntary alcohol intake. We found that Acss2 KO mice consume significantly less alcohol in a model of binge drinking, an effect primarily driven by males. Genome-wide transcriptional profiling of 7 …

Effect Of Telemedicine Support For Intraoperative Anaesthesia Care On Postoperative Outcomes: The Tectonics Randomised Clinical Trial, Christopher R King, Bradley A Fritz, Stephen H Gregory, Thaddeus P Budelier, Arbi Ben Abdallah, Alex Kronzer, Daniel L Helsten, Brian Torres, Sherry L Mckinnon, Sandhya Tripathi, Mohamed Abdelhack, Shreya Goswami, Arianna Montes De Oca, Divya Mehta, Miguel A Valdez, Evangelos Karanikolas, Omokhaye Higo, Paul Kerby, Bernadette Henrichs, Troy S Wildes, Mary C Politi, Joanna Abraham, Michael S Avidan, Thomas Kannampallil

2020-Current year OA Pubs

BACKGROUND: Telemedicine may help improve care quality and patient outcomes. Telemedicine for intraoperative decision support has not been rigorously studied.

METHODS: This was a single-centre randomised clinical trial of unselected adult surgical patients. Patients were randomised to receive usual care or decision support from a telemedicine service, which provided real-time recommendations to intraoperative anaesthesia clinicians based on case reviews and physiological alerts. ORs were randomised 1:1. The co-primary outcomes were 30-day all-cause mortality, respiratory failure, acute kidney injury, and delirium in the intensive care unit, analysed by intention to treat.

RESULTS: Between July 1, 2019, and January 31, 2023, a …

Local Genetic Covariance Analysis With Lipid Traits Identifies Novel Loci For Early-Onset Alzheimer's Disease, Nicholas R. Ray, Joseph Bradley, Elanur Yilmaz, Caghan Kizil, Jiji T. Kurup, Eden R. Martin, Hans-Ulrich Klein, Brian W Kunkle, David A. Bennett, Philip L. De Jager, Alzheimer’S Disease Genetics Consortium, Gary W. Beecham, Carlos Cruchaga, Christiane Reitz

2020-Current year OA Pubs

The genetic component of early-onset Alzheimer disease (EOAD), accounting for ~10% of all Alzheimer's disease (AD) cases, is largely unexplained. Recent studies suggest that EOAD may be enriched for variants acting in the lipid pathway. The current study examines the shared genetic heritability between EOAD and the lipid pathway using genome-wide multi-trait genetic covariance analyses. Summary statistics were obtained from the GWAS meta-analyses of EOAD by the Alzheimer's Disease Genetics Consortium (n=19,668) and five blood lipid traits by the Global Lipids Genetics Consortium (n=1,320,016). The significant results were compared between the EOAD and lipids GWAS and genetic covariance analyses were …

Loncastuximab In High-Risk And Heavily Pretreated Relapsed/Refractory Diffuse Large B-Cell Lymphoma: A Real-World Analysis From 21 Us Centers, Viktoriya Zelikson, Behzad Amoozgar, Brad Kahl, Et Al.

2020-Current year OA Pubs

Outcomes in patients with relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) are poor. Loncastuximab- teserine (Lonca) is an antibody-drug conjugate which was approved by the Food and Drug Administration for the treatment of patients with R/R DLBCL who have received at least two prior lines of therapy, based on the results of the LOTIS-2 trial. However, there are limited data regarding its efficacy in the real-world setting. This retrospective study included 21 US centers and evaluated outcomes of patients with R/R DLBCL treated with Lonca. Our analysis comprises 187 patients with notably higher-risk baseline features compared to those of the …

Reward Neurocircuitry Predicts Longitudinal Changes In Alcohol Use Following Trauma Exposure, Cecilia A Hinojosa, Stacey L House, Et Al.

2020-Current year OA Pubs

BACKGROUND: Trauma is a risk factor for developing maladaptive alcohol use. Preclinical research has shown that stress alters the processing of midbrain and striatal reward and incentive signals. However, little research has been conducted on alterations in reward-related neurocircuitry posttrauma in humans. Neuroimaging markers may be particularly useful because they can provide insight into the mechanisms that may make an individual vulnerable to developing trauma-related psychopathologies. In this study, we aimed to identify reward-related neural correlates associated with changes in alcohol use after trauma exposure.

METHODS: Participants were recruited from U.S. emergency departments for the AURORA study (n = 286; …

Prognostic, Biological, And Structural Implications Of Flt3-Jmd Point Mutations In Acute Myeloid Leukemia: An Analysis Of Alliance Studies, Nadeen Anabtawi, Geoffrey L Uy, Et Al.

2020-Current year OA Pubs

The FLT3 gene frequently undergoes mutations in acute myeloid leukemia (AML), with internal tandem duplications (ITD) and tyrosine kinase domain (TKD) point mutations (PMs) being most common. Recently, PMs and deletions in the FLT3 juxtamembrane domain (JMD) have been identified, but their biological and clinical significance remains poorly understood. We analyzed 1660 patients with de novo AML and found FLT3-JMD mutations, mostly PMs, in 2% of the patients. Patients with FLT3-JMD mutations had a higher relapse rate and shorter disease-free survival than those with FLT3-TKD, whereas their relapse rate, disease-free and overall survival were not significantly different from those of …

Zanubrutinib Versus Bendamustine And Rituximab In Patients With Treatment-Naïve Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: Median 5-Year Follow-Up Of Sequoia, Mazyar Shadman, Brad S Kahl, Et Al.

2020-Current year OA Pubs

No abstract provided.

Cropland Associated With Risk Of Parkinson's Disease In The Northern Great Plains, Brittany Krzyzanowski, Kassu M Beyene, Susan Searles Nielsen, Jordan A Killion, Brad A Racette

2020-Current year OA Pubs

INTRODUCTION: We sought to identify regional associations between cropland density and crop types and PD in the U.S.

METHODS: We conducted a population-based study of 21,639,190 Medicare beneficiaries, 89,790 with incident PD in 2009. We used county-level geographic weighted regression (GWR) to identify region(s) of the U.S. where the association between PD RR and cropland density was strongest. In a broad region identified by GWR in which cropland density was associated with PD, we performed logistic regression using individual-level beneficiary data (2733 cases and 805,984 non-cases) with high-resolution cropland density data. We adjusted for age, sex, race, smoking, healthcare utilization, …

"Inpatient Pharmacological Thromboprophylaxis In The Antepartum Period: An Argument For Universal Thromboprophylaxis", Julia Burd, Amanda Zofkie

2020-Current year OA Pubs

Venous thromboembolism (VTE), a largely preventable condition, accounts for almost 15% of maternal mortalities. The physiologic changes of pregnancy, including quantitative changes in coagulation factors and compression of vasculature by the gravid uterus, cause an increase in risk of VTE, including deep vein thromboembolism (DVT), pulmonary embolism, and stroke (CVA). Long term antepartum admission for preeclampsia, preterm prelabor rupture of membranes (PPROM) or other high-risk pregnancy needs present additional risk factors for VTE due to the patient's medical condition and their inpatient status. Given the near-universal support for anticoagulation in patients with a history of venous thromboembolism or high-risk thrombophilia, …

Visual Field Progression In The Ocular Hypertension Treatment Study, Mae O Gordon, Dale K Heuer, Eve J Higginbotham, Richard K Parrish, Lei Liu, James D Brandt, Julia B Huecker, J Phillip Miller, Chamila Perera, Chris Xie, John L Keltner, Chris A Johnson, Stuart K Gardiner, Jeffrey M Liebmann, Michael A Kass

2020-Current year OA Pubs

PURPOSE: To determine the rate of visual field (VF) loss before and after the diagnosis of primary open angle glaucoma (POAG) in the Ocular Hypertension Treatment Study (OHTS).

DESIGN: Prespecified analyses of data collected prospectively in a clinical trial with extended follow-up.

SETTING AND PARTICIPANTS: Participants who developed POAG during OHTS 1 and 2 (February 1994 to December 2008) constitute an inception cohort. Follow-up data were collected in OHTS 3 (January 2016-April 2019). Analyses were performed from July 2021 to August 2022.

INTERVENTION: In OHTS 1 and 2, visual field (VF) tests were performed every 6 months and stereoscopic optic …

Plasma Cell-Rich Lymphoid Neoplasm In An Endocervical Polyp Of The Uterine Cervix In A Perimenopausal 52-Year-Old Woman, Anjali Patel, Jacqueline Haas, Angela Kueck

HCA Healthcare Journal of Medicine

Background

The adaptive immune system consists of T and B lymphocytes, with some B lymphocytes further differentiating into plasma cells that secrete antibodies and make up the humoral immune system. Extramedullary plasmacytoma, mucosa-associated lymphoid tissue (MALT) lymphoma, and plasmablastic lymphoma are all plasma cell-rich lymphoid neoplasms that rarely present in the female genital tract. To date, few case reports of these malignancies arising within the uterine cervix exist.

Case Presentation

This case report describes a 52-year-old perimenopausal woman who presented to her primary obstetrician-gynecologist for an annual exam with the complaint of light spotting following an endometrial ablation that occurred …

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Department of Neurosurgery Faculty Papers

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem M Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam A Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev D Sen, Omar Alwakaa, Christoph J Griessenauer, Pascal Jabbour, Stavropoula I Tjoumakaris, Jan-Karl Burkhardt, Robert M Starke, Mustafa Baskaya, Laligam N Sekhar, Michael R Levitt, David J Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng R Chen, Spiros Blackburn, Mark J Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman B Patel, Hugo H Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Faculty, Staff and Student Publications

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …

Muscle-Specific Errγ Activation Mitigates Muscle Atrophy After Acl Injury, Aiping Lu, Katie J Sikes, Ping Guo, Matthieu Huard, Shelbi Green, Kelly Santangelo, Jacob Singer, Ashley Groesbeck, Scott Tashman, Vihang A Narkar, Johnny Huard

Faculty, Staff and Student Publications

Anterior cruciate ligament (ACL) injury adversely affects skeletal muscle, leading to muscle atrophy and weakness, significantly impacting clinical outcomes. This study aimed to determine if estrogen-related receptor gamma (ERRγ) overexpression in skeletal muscle could mitigate muscle atrophy after ACL injury. An animal model with selective overexpression of ERRγ in skeletal muscle (ERR-gamma transgenic mice, TG) and WT control mice were used for this study. All the mice received a mechanical ACL rupture and were euthanized at 4- and 8-week post-injury. Muscle histology, atrophy, and function were evaluated and compared between the TG and WT mice. Muscle-specific ERRγ activation in TG …

Invasive Haemophilus Influenzae Disease At A Us Children's Hospital In The Sars-Cov-2 Era, J Chase Mcneil, David R Mcdonald, James J Dunn, Sheldon L Kaplan, Kristina G Hulten, Jesus G Vallejo

Faculty, Staff and Students Publications

Background: National data previously demonstrated an increase in invasive disease due to non-type b Haemophilus influenzae from the 2000s to the 2010s. Significant shifts in the epidemiology of respiratory pathogens in children have occurred in the post-SARS-CoV-2 era. We examined pediatric invasive H. influenzae disease in the pre- and post-SARS-CoV-2 years.

Methods: Invasive H. influenzae infections were identified from culture records of the Texas Children's Hospital microbiology laboratory from January 2011 to December 2023. Invasive cases were considered those with isolation of H. influenzae from a sterile site. The annual number of cases/1000 admissions was used as a surrogate for …

Myelin-Reactive Cd8+ T Cells Influence Conventional Dendritic Cell Subsets Towards A Mature And Regulatory Phenotype In Experimental Autoimmune Encephalomyelitis, Mohit Upadhye, Connor R Wilhelm, Kai J Rogers, Chakrapani Vemulawada, Nicholas Borcherding, Alexander W Boyden, Kevin L Legge, Nitin J Karandikar

2020-Current year OA Pubs

Multiple sclerosis (MS), an autoimmune demyelinating disease of the central nervous system, is modeled in mice as experimental autoimmune encephalomyelitis (EAE). While CD4

Complement Activity And Autophagy Are Dysregulated In The Lungs Of Patients With Nonresolvable Covid-19 Requiring Lung Transplantation, Pooja Shivshankar, Stacey L Mueller-Ortiz, Aleksey Y Domozhirov, Weizhen Bi, Scott D Collum, Marie-Francoise Doursout, Manish Patel, Isabella N Lefebvre, Bindu Akkanti, Simon Yau, Howard J Huang, Rahat Hussain, Harry Karmouty-Quintana

Faculty, Staff and Student Publications

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-induced coronavirus disease 2019 (COVID-19) pandemic has challenged the current understanding of the complement cascade mechanisms of host immune responses during infection-induced nonresolvable lung disease. While the complement system is involved in opsonization and phagocytosis of the invading pathogens, uncontrolled complement activation also leads to aberrant autophagic response and tissue damage. Our recent study revealed unique pathologic and fibrotic signature genes associated with epithelial bronchiolization in the lung tissues of patients with nonresolvable COVID-19 (NR-COVID-19) requiring lung transplantation. However, there is a knowledge gap if complement components are modulated to contribute to tissue …

The Transition To Adulthood: A Qualitative Study Of Autism Spectrum Disorder From Military And Veteran Parents And Military-Dependent Young Adults, Antonio F Pagán, Mara C Montenegro, Mark Ahlenius, Ana C Ramirez, Miriam Ortiz, Estefani Bernal, Cecilia Montiel-Nava, Jennifer Bittner, Katherine A Loveland, Ron E Acierno

Faculty, Staff and Student Publications

Introduction: Given the unique experiences of military service members and their families, military-dependent young adults (18-25 years old) with autism spectrum disorder (ASD) and their military or veteran families experience unique barriers to accessing quality mental health care during the transition to adulthood. In fact, developing services to address ASD challenges for military families is a burgeoning area of interest for the department of defense. However, there is a limited knowledge on the specific needs of military families as the young adult's transition outside of high school and lose supports.

Materials and methods: The present study conducted 3 focus groups …

Inhibition Of Il-6 Trans-Signaling Promotes Post-Stroke Functional Recovery In A Sex And Dose-Dependent Manner, Cassandra Hall, Dustin T Nguyen, Kate Mendoza, Chunfeng Tan, Anjali Chauhan

Faculty, Staff and Student Publications

Introduction: Elevated circulating IL-6 levels are associated with poorer outcomes after stroke, and increased serum IL-6 levels are linked to a higher risk of stroke. IL-6 binds to soluble IL-6 receptors (sIL-6R) and subsequently to ubiquitously expressed gp130, initiating proinflammatory trans-signaling. This study tested the hypothesis that inhibiting IL-6 trans-signaling by administering soluble (s) gp130 improves long-term functional outcomes in young mice after stroke.

Methods: Recombinant mouse gp130Fc chimera (sgp130) was administered one hour after middle cerebral artery occlusion (MCAO) followed by twice-weekly administration for 2 weeks in mice (8-15 weeks old). Behavioral assessments were done on days 7 and …

Epidemiology And Genetic Determination Of Measures Of Peripheral Vascular Health In The Long Life Family Study, Deidra R Fricke, Ryan K Cvejkus, Emma Barinas-Mitchell, Mary F Feitosa, Joanne M Murabito, Sandeep Acharya, Michael R Brent, E Warwick Daw, Ryan L Minster, Joseph M Zmuda, Allison L Kuipers

2020-Current year OA Pubs

Peripheral artery disease (PAD) is a major contributor to morbidity in older adults. We aimed to determine genetic and non-genetic determinants of PAD and ankle-brachial index (ABI) in the Long Life Family Study (LLFS). 3006 individuals had ABI assessment, including 1090 probands (mean age 89), 1554 offspring (mean age 60) and 362 spousal controls (mean age 61). Outcomes include minimum of right and left ABIs and PAD (ABI <0.9). Stepwise regression determined independent significant non-genetic correlates of ABI and PAD. Genomewide association and linkage analyses were adjusted for age, sex, study center, significant principal components, and independent predictors. All analyses accounted for familial relatedness. Median ABI was 1.16 and 7.4% had PAD (18.2% probands, 1.0% offspring, 1.9% controls). Correlates of PAD and lower ABI included age, SBP, and creatinine (ABI only); BMI (ABI only), HDL (ABI only) and DBP (PAD only); and antihypertensive use, current smoking, female sex (ABI only), and high school noncompletion (ABI only). Genomewide linkage identified 1 region (15q12-q13) and association identified 3 single nucleotide polymorphisms (rs780213, rs12512857, rs79644420) of interest. In these families, PAD prevalence was low compared to other studies of older adults. We identified four genomic sites that may harbor variants associated with protection from PAD.