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2025

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Prognostic Value Of The Monocyte-To-High-Density Lipoprotein-Cholesterol Ratio In Acute Coronary Syndrome Patients: A Systematic Review And Meta-Analysis, Michał Pruc, Jacek Kubica, Maciej Banach, Damian Świeczkowski, Zubaid Rafique, William Frank Peacock, Zbigniew Siudak, Stanisław Surma, Prabath Nanayakkara, Krzysztof Kurek, Anne Lepetit, Łukasz Szarpak Jan 2025

Prognostic Value Of The Monocyte-To-High-Density Lipoprotein-Cholesterol Ratio In Acute Coronary Syndrome Patients: A Systematic Review And Meta-Analysis, Michał Pruc, Jacek Kubica, Maciej Banach, Damian Świeczkowski, Zubaid Rafique, William Frank Peacock, Zbigniew Siudak, Stanisław Surma, Prabath Nanayakkara, Krzysztof Kurek, Anne Lepetit, Łukasz Szarpak

Faculty, Staff and Students Publications

Background: Globally, diseases of the cardiovascular system stand as principal contributors to mortality and are expected to show an upward trajectory. The occurrence of acute coronary syndrome (ACS) has been linked to underlying inflammatory processes. The monocyte-to-high-density lipoprotein-cholesterol ratio (MHR) has garnered significant attention as a prognostic biomarker, encapsulating the synergistic roles of inflammation and lipid metabolism in the pathophysiology of cardiovascular diseases, including ACS.

Aims: This meta-analysis examines the prognostic MHR ratio in ACS patients.

Methods: We systematically searched PubMed, Embase, Scopus, Web of Science, and the Cochrane Library databases to identify the relevant meta-analyses published before February 26, …


‘Antibiotics Are Like Gold’: A Qualitative Study Of Patient Perspectives On The Use Of Antibiotics Without A Prescription, Lindsey A Laytner, Patricia Chen, Barbara Wells Trautner, Susan Nash, Ashley Collazo, Fabrizia Faustinella, Kiara Olmeda, Azalia Mancera, Roger Zoorob, Michael K Paasche-Orlow, Larissa Grigoryan Jan 2025

‘Antibiotics Are Like Gold’: A Qualitative Study Of Patient Perspectives On The Use Of Antibiotics Without A Prescription, Lindsey A Laytner, Patricia Chen, Barbara Wells Trautner, Susan Nash, Ashley Collazo, Fabrizia Faustinella, Kiara Olmeda, Azalia Mancera, Roger Zoorob, Michael K Paasche-Orlow, Larissa Grigoryan

Faculty, Staff and Students Publications

Background: Using antibiotics without a prescription (non-prescription use) is common in the USA and contributes to antibiotic misuse, potentially harming individuals and threatening public health. At the individual level, safety issues related to non-prescription use include adverse drug reactions and disruption of healthy microbiomes. At the public health level, non-prescription use increases the risk of antimicrobial resistance.

Objectives: This qualitative study explored the reasons and motivations underlying non-prescription use among adult outpatients with varying healthcare coverage and education.

Methods: We used purposive sampling to recruit participants who endorsed using non-prescription antibiotics in a larger quantitative survey. Participants were patients recruited …


Antithymocyte Globulin Therapy In Chronic Lung Allograft Dysfunction, Akhilesh Ajay Padhye, Danielle Guffey, Andres Leon-Pena, Justin Segraves, Ramiro Fernandez, Gabriel Loor, Puneet Garcha, Tianshi David Wu, Gloria Li Jan 2025

Antithymocyte Globulin Therapy In Chronic Lung Allograft Dysfunction, Akhilesh Ajay Padhye, Danielle Guffey, Andres Leon-Pena, Justin Segraves, Ramiro Fernandez, Gabriel Loor, Puneet Garcha, Tianshi David Wu, Gloria Li

Faculty, Staff and Students Publications

Introduction: Lung transplantation has seen strides in survival over the past few decades, though long-term survival remains poor. Chronic lung allograft dysfunction (CLAD) is a leading cause of graft failure and mortality beyond the first year. Anti-thymocyte globulin (ATG) is commonly used for treating refractory CLAD, though its efficacy remains uncertain.

Methods: This retrospective study evaluated the impact of ATG on lung function decline and mortality among lung transplant recipients diagnosed with CLAD, defined as a persistent >20% decline in forced expiratory volume (FEV1) from baseline. Patients treated with ATG were compared to those who did not receive ATG, using …


Outcomes Of Coronary Revascularization In Patients With Metabolic Dysfunction-Associated Steatotic Liver Disease: A Systematic Review, Jacob J Gries, Hafeez Ul Hassan Virk, Zhen Wang, Mahboob Alam, Samin Sharma, Markus Strauss, Chayakrit Krittanawong Jan 2025

Outcomes Of Coronary Revascularization In Patients With Metabolic Dysfunction-Associated Steatotic Liver Disease: A Systematic Review, Jacob J Gries, Hafeez Ul Hassan Virk, Zhen Wang, Mahboob Alam, Samin Sharma, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Introduction: A growing amount of evidence suggests that metabolic dysfunction-associated steatotic liver disease (MASLD) may independently increase the risk of coronary artery disease and acute coronary syndrome, thus necessitating revascularization interventions such as percutaneous coronary intervention (PCI) and coronary artery bypass grafting (CABG) [2,3]. However, a limited number of studies have evaluated the impact of MASLD on the outcomes of these interventions.

Methods: A comprehensive search of the PubMed/MEDLINE and Embase databases was conducted to identify relevant studies from August 2015 to August 2025 using a combination of Medical Subject Headings (MeSH) terms and text words related to MASLD and …


Healthcare Utilization Unchanged In The Control Arm Of A Randomized Clinical Trial, Pratik Gongloor, Saad Nadeem, Xiaoying Yu, Mukaila Raji, Kristina D Mena, Elizabeth M Vaughan Jan 2025

Healthcare Utilization Unchanged In The Control Arm Of A Randomized Clinical Trial, Pratik Gongloor, Saad Nadeem, Xiaoying Yu, Mukaila Raji, Kristina D Mena, Elizabeth M Vaughan

Faculty, Staff and Students Publications

including among control groups. Increased access to care and heightened health awareness during trial enrollment could lead to altered behaviors, a phenomenon known as the Hawthorne effect, which may obscure true intervention impacts; however, this effect remains poorly studied in low-income environments.

Aim: To conduct a secondary exploratory analysis of healthcare utilization among control participants of a randomized clinical trial (RCT).

Methods: We retrospectively analyzed electronic medical records from the control arm (n = 26) of an RCT involving low-income Hispanic adults with type 2 diabetes receiving care at a community clinic. Before randomization to a 12-month diabetes education intervention …


Multidisciplinary Approach To Treating Complex Immune Dysregulation Disorders: An Adaptive Model For Institutional Implementation, Lauren A Henderson, Roshini S Abraham, Aisha Ahmed, Lindsey Blount, Scott W Canna, Natalia S Chaimowitz, Shanmuganathan Chandrakasan, Bria Coates, James A Connelly, Megan A Cooper, Christine N Duncan, Anthony French, Melissa Hazen, Michelle L Hermiston, Brian Nolan, Anish Ray, Melissa J Rose, Lisa Forbes Satter, Grant Schulert, Sara Kristen Sexson Tejtel, Tiphanie Vogel, Kelly Walkovich, Matt S Zinter, Edward M Behrens Jan 2025

Multidisciplinary Approach To Treating Complex Immune Dysregulation Disorders: An Adaptive Model For Institutional Implementation, Lauren A Henderson, Roshini S Abraham, Aisha Ahmed, Lindsey Blount, Scott W Canna, Natalia S Chaimowitz, Shanmuganathan Chandrakasan, Bria Coates, James A Connelly, Megan A Cooper, Christine N Duncan, Anthony French, Melissa Hazen, Michelle L Hermiston, Brian Nolan, Anish Ray, Melissa J Rose, Lisa Forbes Satter, Grant Schulert, Sara Kristen Sexson Tejtel, Tiphanie Vogel, Kelly Walkovich, Matt S Zinter, Edward M Behrens

Faculty, Staff and Students Publications

Patients with immune dysregulation may present with varying combinations of autoimmunity, autoinflammation, immunodeficiency, atopy, lymphoproliferation, and/or malignancy, often with multisystem involvement. Recognizing specific patterns of immune dysregulation, coordinating and interpreting complex diagnostic testing, and choosing initial (often empiric) treatment can be challenging. Centers are increasingly assembling multidisciplinary teams (MDTs) to standardize evaluation and optimize treatment of patients with complex immune dysregulation (immune dysregulation MDTs [immMDTs]). However, published information on the composition and function of immMDTs is sparse, and there is little guidance for those seeking to establish or optimize an immMDT. To inform this review, we assembled a panel of …


Two-Dimensional Speckle Tracking Of The Ascending Aorta: A Novel Approach To Evaluate Arterial Stiffness In Pediatric Patients With Repaired Conotruncal Anomalies Using Echocardiography, Anmol Goyal, Anitha Parthiban, David A White, Daniel Forsha, Doaa Aly Jan 2025

Two-Dimensional Speckle Tracking Of The Ascending Aorta: A Novel Approach To Evaluate Arterial Stiffness In Pediatric Patients With Repaired Conotruncal Anomalies Using Echocardiography, Anmol Goyal, Anitha Parthiban, David A White, Daniel Forsha, Doaa Aly

Faculty, Staff and Students Publications

Background: Children with repaired conotruncal abnormalities (CTA) are at risk of progressive aortic dilation and deteriorating aortic elasticity even after surgical correction. Strain imaging, using a 2-dimensional speckle tracking echocardiography (2D-STE), has been used for arterial stiffness assessment, but pediatric data are still lacking. We investigated the feasibility, reproducibility, and clinical value of 2D-STE derived ascending aorta (AAo) stiffness in children with repaired CTA.

Methods: 22 pediatric patients with repaired CTA were included along with 25 age- and sex- matched healthy controls (mean age 10.2 ± 4.5 years). Conventional 2D echocardiographic and 2D-STE assessment of AAo mechanics was performed. M-mode …


Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mili Vakharia, Sarah K Lyons, Don Buckingham, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim Jan 2025

Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mili Vakharia, Sarah K Lyons, Don Buckingham, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim

Faculty, Staff and Students Publications

Introduction: Insulin pump therapy is recommended for youth with type 1 diabetes (T1D) as it enhances quality of life and improves glycemic management. We led a quality improvement initiative to increase insulin pump use in youth younger than 18 years of age with recently diagnosed T1D (duration < 1 y) from a baseline of 17% to 27% from January 2021 to December 2023. As a balancing measure, we evaluated the diabetes-related ketoacidosis (DKA) rate in the same cohort as nonpump users.

Methods: We implemented the following plan-do-study-act cycles: (1) development and implementation of pump initiation algorithm, including minimal safe start criteria and education on ketosis management with pump action plan, (2) establishing clinic follow-up within 90 days of pump start, (3) expansion of the pump algorithm at additional clinic locations, (4) early patient/caregiver education …


Risk Scores For Choledocholithiasis Perform Poorly In Patients With Hemolytic Diseases: A Pedi Database Report, Jennifer Thompson, Wenly Ruan, Douglas S Fishman, Matthew Giefer, Kyung Mo Kim, Mercedes Martinez, Luigi Dall'oglio, Valerio Balassone, Filippo Torroni, Paola De Angelis, Simona Faraci, Cynthia Tsai, Michael Wilsey, Racha Khalaf, Petar Mamula, Quin Liu, Yuhua Zheng, Bradley A Barth, David Michael Troendle Jan 2025

Risk Scores For Choledocholithiasis Perform Poorly In Patients With Hemolytic Diseases: A Pedi Database Report, Jennifer Thompson, Wenly Ruan, Douglas S Fishman, Matthew Giefer, Kyung Mo Kim, Mercedes Martinez, Luigi Dall'oglio, Valerio Balassone, Filippo Torroni, Paola De Angelis, Simona Faraci, Cynthia Tsai, Michael Wilsey, Racha Khalaf, Petar Mamula, Quin Liu, Yuhua Zheng, Bradley A Barth, David Michael Troendle

Faculty, Staff and Students Publications

Patients with hemolytic diseases are at increased risk for gallstone-related complications. Modified scoring systems have been developed to assess which pediatric patients would benefit from endoscopic retrograde cholangiopancreatography (ERCP) to treat choledocholithiasis. This study aimed to evaluate the ability of the available criteria to determine which pediatric patients with hemolytic diseases are likely to benefit from ERCP. A secondary analysis was performed using the Pediatric ERCP Database Initiative database, which contains prospectively collected data from 1,124 ERCPs at tertiary-care institutions. We compared patients with a hemolytic disease to those without. Data was analyzed by two-tailed Fisher’s exact test and paired …


Comment On “Effectiveness And Safety Of Oral Vancomycin For The Treatment Of Inflammatory Bowel Disease Associated With Primary Sclerosing Cholangitis: A Systematic Review And Pooled Analysis”, Richard Kellermayer, Peter Lewindon, Cynthia Buness, James Tabibian, Kevin Johnson, Shamita Shah, Parambir Dulai, Ahmad H Ali, Ayesha Shah, Gerald Holtmann, Harland S Winter Jan 2025

Comment On “Effectiveness And Safety Of Oral Vancomycin For The Treatment Of Inflammatory Bowel Disease Associated With Primary Sclerosing Cholangitis: A Systematic Review And Pooled Analysis”, Richard Kellermayer, Peter Lewindon, Cynthia Buness, James Tabibian, Kevin Johnson, Shamita Shah, Parambir Dulai, Ahmad H Ali, Ayesha Shah, Gerald Holtmann, Harland S Winter

Faculty, Staff and Students Publications

No abstract provided.


Eradication Rates Of Empiric Helicobacter Pylori Treatment Regimens By Race/Ethnicity In A Predominantly Immigrant Us Population, Min J Kim, Isiah Gonzalez, Nia M Choi, David Y Graham, Hashem B El-Serag, Mimi C Tan Jan 2025

Eradication Rates Of Empiric Helicobacter Pylori Treatment Regimens By Race/Ethnicity In A Predominantly Immigrant Us Population, Min J Kim, Isiah Gonzalez, Nia M Choi, David Y Graham, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

Background: Helicobacter pylori infections are mostly treated empirically (without antibiotic susceptibility testing). Determining eradication rates of different treatment regimens can inform antibiotic resistance. Our aim was to examine eradication rates of empiric H. pylori treatments based on treatment regimen, race/ethnicity and previous treatment status in a multiethnic U.S.

Materials and methods: This was a retrospective cross-sectional study of patients with a positive H. pylori test from 7/2021 to 4/2022 at Harris Health (Houston, Texas) who had received treatment and eradication testing within 1 year. We compared eradication rates based on treatment regimen, race/ethnicity, and prior treatment and examined other possible …


Interval Advanced Adenomas And Neoplasia In Patients With Negative Colonoscopy Following Positive Stool-Based Colorectal Cancer Screening Test, Kyle S Liu, Rollin George, Caleb Shin, Jia Q Xiong, Taher Jamali, Yan Liu, Priya Roy, Sonia Singh, Samuel Ma, Hashem B El-Serag, Mimi C Tan Jan 2025

Interval Advanced Adenomas And Neoplasia In Patients With Negative Colonoscopy Following Positive Stool-Based Colorectal Cancer Screening Test, Kyle S Liu, Rollin George, Caleb Shin, Jia Q Xiong, Taher Jamali, Yan Liu, Priya Roy, Sonia Singh, Samuel Ma, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

BACKGROUND/AIMS: Fecal occult blood test (FOBT) and fecal immunohistochemical test (FIT) are used for colorectal cancer (CRC) screening. However, when no adenomas are found following a positive FOBT/FIT, the future risk of advanced adenomas or colorectal cancer (CRC) is unclear. We determined the incidence and determinants of advanced adenomas or CRC after a negative index colonoscopy following a positive FOBT/FIT.

METHODS: We identified patients in the Harris Health System (Houston, Texas) who underwent a colonoscopy following a positive FOBT/FIT from 01/2010 to 01/2013. We compared the incidence rates of advanced adenomas (≥ 1 cm, villous histopathology, or high-grade dysplasia) or …


Tb And Diabetes In Eswatini: Addressing Suboptimal Treatment Outcomes Through Integrated Services, Yael Hirsch-Moverman, Dana Bezuidenhout, Sakthi Senthilvelan, Lobsang Palmo, Debrah Vambe, Ntombifuthi Ginindza, Nonhlanhla Dlamini, Andrea A Howard, Joanne E Mantell Jan 2025

Tb And Diabetes In Eswatini: Addressing Suboptimal Treatment Outcomes Through Integrated Services, Yael Hirsch-Moverman, Dana Bezuidenhout, Sakthi Senthilvelan, Lobsang Palmo, Debrah Vambe, Ntombifuthi Ginindza, Nonhlanhla Dlamini, Andrea A Howard, Joanne E Mantell

Faculty, Staff and Students Publications

Tuberculosis (TB) remains a significant public health challenge in Eswatini, a country with the highest global HIV prevalence. Diabetes mellitus (DM) is increasingly common among people newly diagnosed with TB, contributing to suboptimal TB treatment outcomes, including relapse and death. The DETECT study employed a multi-method approach to assess the prevalence and DM impact on TB treatment outcomes among adults with TB in 10 Ministry of Health facilities in Eswatini, and explore barriers and facilitators to integrating TB/DM services. DM screening was conducted using laboratory-based glycated hemoglobin (A1c) testing, with DM defined as A1c ≥ 6.5% and preDM as A1c …


Screening And Targeted Sequencing Of Stool For Microbiologic Confirmation And Drug Resistance Determination In Paucibacillary Tuberculosis, Tara E Ness, Mangaliso Ziyane, Nontobeko Maphalala, Abigail Seeger, Anca Vasiliu, Wethusonke Khumalo, Mdigo Thunzini, Sindisiwe Dlamini, Gugu Maphalala, Clement Gascua, Christoph Lange, Samantha Meyer, Bryce Inman, Viola Dreyer, Christian Utpatel, Tanja Niemann, Andrew Dinardo, Alexander Kay, Stefan Niemann, Anna Mandalakas Jan 2025

Screening And Targeted Sequencing Of Stool For Microbiologic Confirmation And Drug Resistance Determination In Paucibacillary Tuberculosis, Tara E Ness, Mangaliso Ziyane, Nontobeko Maphalala, Abigail Seeger, Anca Vasiliu, Wethusonke Khumalo, Mdigo Thunzini, Sindisiwe Dlamini, Gugu Maphalala, Clement Gascua, Christoph Lange, Samantha Meyer, Bryce Inman, Viola Dreyer, Christian Utpatel, Tanja Niemann, Andrew Dinardo, Alexander Kay, Stefan Niemann, Anna Mandalakas

Faculty, Staff and Students Publications

In 2023, an estimated 10.8 million people developed tuberculosis, and 1.25 million people died from this disease, including 161,000 deaths in people with HIV (PWH) in whom tuberculosis remains the leading cause of death. Detecting Mycobacterium tuberculosis drug resistance remains a challenge among patients with paucibacillary tuberculosis; since there is such low bacterial load in their sputum it's unable to be detected via microscopy, there is also not enough bacteria for other sputum-based tests which could provide resistance testing. At an outpatient clinic in Eswatini from 2020-2023, stool and sputum samples were provided by a subset of children, adolescents, and …


The Catastrophic Cost Of Tb Care: Understanding Costs Incurred By Individuals Undergoing Tb Care In Low-, Middle-, And High-Income Settings – A Systematic Review, Olivia Alise D'Silva, Samantha Lancione, Oviya Ananthakrishnan, Angelina Addae, Suvesh Shrestha, Hannah Alsdurf, Kednapa Thavorn, Nompumelelo Mzizi, Anca Vasilu, Alexander Kay, Anna Maria Mandalakas, Alice Anne Zwerling Jan 2025

The Catastrophic Cost Of Tb Care: Understanding Costs Incurred By Individuals Undergoing Tb Care In Low-, Middle-, And High-Income Settings – A Systematic Review, Olivia Alise D'Silva, Samantha Lancione, Oviya Ananthakrishnan, Angelina Addae, Suvesh Shrestha, Hannah Alsdurf, Kednapa Thavorn, Nompumelelo Mzizi, Anca Vasilu, Alexander Kay, Anna Maria Mandalakas, Alice Anne Zwerling

Faculty, Staff and Students Publications

Eliminating the burden of catastrophic costs experienced by individuals undergoing tuberculosis (TB) treatment is one of the World Health Organization (WHO) End TB Strategy targets. To help inform decisions on TB patient burden and cost-effective TB care, we conducted a systematic review to summarize current evidence around the burden of catastrophic costs incurred by individuals undergoing TB treatment and identified the main drivers of costs to aid in developing mitigation strategies. A literature search was performed in August 2024 using Embase, Web of Science, Scopus and Medline targeting studies using WHO, or WHO adapted patient costing questionnaires to measure direct …


Healthcare Providers’ Knowledge, Attitudes, And Perceptions From Using Targeted Sequencing To Diagnose And Manage Drug-Resistant Tuberculosis (Dr-Tb) In Eswatini, Maia Madison, Debrah Vambe, Sein Sein Thi, Mangaliso Ziyane, Nosisa Shiba, Babongile Blisset Nkala, Tara Ness, Agostinho Viana Lima, Sindisiwe Dlamini, Siphiwe Ngwenya, Anna Mandalakas, Alexander Kay Jan 2025

Healthcare Providers’ Knowledge, Attitudes, And Perceptions From Using Targeted Sequencing To Diagnose And Manage Drug-Resistant Tuberculosis (Dr-Tb) In Eswatini, Maia Madison, Debrah Vambe, Sein Sein Thi, Mangaliso Ziyane, Nosisa Shiba, Babongile Blisset Nkala, Tara Ness, Agostinho Viana Lima, Sindisiwe Dlamini, Siphiwe Ngwenya, Anna Mandalakas, Alexander Kay

Faculty, Staff and Students Publications

Challenges in diagnosing drug-resistant tuberculosis (DR-TB) contribute to a diagnostic gap. Design-locked Targeted Sequencing (TS) assays have the potential to improve DR-TB diagnosis and management. TS assays are now being introduced into low-income, high TB burden settings. Eswatini is among the first high burden countries to have implemented TS for patient care. To evaluate the impact of the current program and optimize future implementation, we evaluated healthcare provider knowledge, attitudes, and perceptions (KAP) of TS and its implementation. We conducted semi-structured interviews with healthcare providers. Interviews were continued until data saturation was reached and analyzed by directed thematic analysis. The …


Occult Abdominal Trauma Screening In The Evaluation Of Suspected Child Physical Abuse, Tagrid M Ruiz-Maldonado, Joanne N Wood, Antoinette L Laskey, Christopher S Greeley, Angela Bachim, Daniel M Lindberg, James Anderst, John Melville, Carmen Coombs, Nancy S Harper, Lori Frasier, Farah W Brink, Caitlin E Crumm, Kristine A Campbell Jan 2025

Occult Abdominal Trauma Screening In The Evaluation Of Suspected Child Physical Abuse, Tagrid M Ruiz-Maldonado, Joanne N Wood, Antoinette L Laskey, Christopher S Greeley, Angela Bachim, Daniel M Lindberg, James Anderst, John Melville, Carmen Coombs, Nancy S Harper, Lori Frasier, Farah W Brink, Caitlin E Crumm, Kristine A Campbell

Faculty, Staff and Students Publications

Background and objectives: Occult abdominal trauma (OAT) screening with transaminases, followed by abdominal computed tomography (CT) for transaminase values greater than 80 IU/L, has been recommended in cases of suspected physical abuse. This study aimed to evaluate case characteristics associated with OAT evaluation and determine OAT prevalence in these children.

Methods: Injured children aged younger than 60 months undergoing Child Abuse Pediatrics (CAP) consultation for suspected physical abuse from February 2021 to May 2023 were identified in CAPNET, a multicenter research network. Children with symptoms or signs of intra-abdominal injury were excluded. We identified case characteristics associated with transaminase screening …


Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott Jan 2025

Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott

Faculty, Staff and Students Publications

Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic. However, a research reanalysis of their exome sequencing data revealed that both were homozygous for an intronic c.749+39G>A [NM_001383.6] variant in DPH1. RNAseq analysis performed on RNA from fibroblasts revealed significantly reduced expression of DPH1 transcripts suggestive of abnormal splicing followed by nonsense mediated mRNA decay. Since the …


Improving Interprofessional Neurology Training Using Tele-Education, Fariha Jamal, Amtul Farheen, Christine Rizk Jan 2025

Improving Interprofessional Neurology Training Using Tele-Education, Fariha Jamal, Amtul Farheen, Christine Rizk

Faculty, Staff and Students Publications

Background: Neurological disorders are a leading cause of disability and death worldwide. Their burden on the health care system has substantially increased in the past 25 years, due to more effective treatments and longer life expectancies. The Veterans Health Administration has seen increases in neurology referrals and patients with neurologic disorders.

Observations: Collaborative efforts among primary care, geriatrics, neurology, psychiatry, physical medicine and rehabilitation, social work, and other disciplines are needed to properly care for veterans with neurologic disorders. Neurology education is an important tool for clinicians to better care for veterans with neurologic disorders. The use of technology and …


Validation Of The Polish Version Of The Movement Disorder Society Non-Motor Rating Scale (Mds-Nms), Joanna Siuda, Mateusz Toś, Tomasz Chmiela, Andrzej Bogucki, Barbara Borodziuk, Sławomir Budrewicz, Marek Dąbrowski, Marceli Gacan, Agata Gajos, Justyna Gawryluk, Piotr Janik, Justyna Kaczyńska, Ewa Koziorowska-Gawron, Jakub Malkiewicz, Ewa Papuć, Paulina Kaczmarska, Monika Rudzińska-Bar, Jarosław Sławek, Magdalena Wójcik-Pędziwiatr, Luowen Yu, Sheng Luo, Christopher Goetz, Glenn Stebbins, Pablo Martinez-Martin, Tiago Mestre, Alvaro Sanchez-Ferro, Monika Kurtis, Michelle Hyczy De Siqueira Tosin, Roberta Balestrino, Chi-Ying Roy Lin, Carmen Gasca-Salas Jan 2025

Validation Of The Polish Version Of The Movement Disorder Society Non-Motor Rating Scale (Mds-Nms), Joanna Siuda, Mateusz Toś, Tomasz Chmiela, Andrzej Bogucki, Barbara Borodziuk, Sławomir Budrewicz, Marek Dąbrowski, Marceli Gacan, Agata Gajos, Justyna Gawryluk, Piotr Janik, Justyna Kaczyńska, Ewa Koziorowska-Gawron, Jakub Malkiewicz, Ewa Papuć, Paulina Kaczmarska, Monika Rudzińska-Bar, Jarosław Sławek, Magdalena Wójcik-Pędziwiatr, Luowen Yu, Sheng Luo, Christopher Goetz, Glenn Stebbins, Pablo Martinez-Martin, Tiago Mestre, Alvaro Sanchez-Ferro, Monika Kurtis, Michelle Hyczy De Siqueira Tosin, Roberta Balestrino, Chi-Ying Roy Lin, Carmen Gasca-Salas

Faculty, Staff and Students Publications

Aim of the study: We aimed to translate and validate the Polish version of the MDS-NMS and compare it with the original English version.

Clinical rationale for the study: Non-motor symptoms (NMS) affect a significant portion of the Parkinson's disease (PD) patient population and may negatively impact their quality of life. Non-motor symptoms may contribute to an increased sense of illness among patients and to a greater burden upon their caregivers. It is therefore advisable to develop a Polish validation of a reference scale for diagnosing and assessing the severity of NMS.

Material and methods: The MDS-NMS was translated into …


Technical Considerations In The Tcd Evaluation Of Cerebral Circulatory Arrest In Death By Neurological Criteria, Alexandra S Reynolds, Jimmy Suh, Ahmedyar Hasan, Parth Upadhyaya, Venkatakrishna Rajajee, Mohammad I Hirzallah, David M Greer, Aarti Sarwal Jan 2025

Technical Considerations In The Tcd Evaluation Of Cerebral Circulatory Arrest In Death By Neurological Criteria, Alexandra S Reynolds, Jimmy Suh, Ahmedyar Hasan, Parth Upadhyaya, Venkatakrishna Rajajee, Mohammad I Hirzallah, David M Greer, Aarti Sarwal

Faculty, Staff and Students Publications

Background and purpose: Ancillary testing is essential for diagnosing brain death/death by neurologic criteria (BD/DNC) when clinical determination (neurologic exam and apnea testing) cannot be fully or safely performed. Transcranial Doppler ultrasound (TCD) has been recommended as an ancillary test; however, the technical descriptions have been heterogeneous. We aimed to consolidate the technical considerations related to the use of TCD as an ancillary test in the evaluation of BD/DNC.

Methods: We performed a scoping review of the available literature from inception to December 2024. Articles describing TCD as an ancillary test for BD/DNC were included using appropriate Medical Subject Headings …


Early Cerebrospinal Fluid Elevations Of Ptau-217 In Severe Traumatic Brain Injury Subjects, Hamad Yadikar, Firas H Kobeissy, Claudia Robertson, Spyridoula Tsetsou, John B Williamson, Damon G Lamb, Amy K Wagner, Todd Kibaugh, Shih-Han Kao, Zhifeng Kou, Robert D Welch, Jose-Miguel Yamal, Luis Leon-Novelo, Richard Rubenstein, Kevin K W Wang Jan 2025

Early Cerebrospinal Fluid Elevations Of Ptau-217 In Severe Traumatic Brain Injury Subjects, Hamad Yadikar, Firas H Kobeissy, Claudia Robertson, Spyridoula Tsetsou, John B Williamson, Damon G Lamb, Amy K Wagner, Todd Kibaugh, Shih-Han Kao, Zhifeng Kou, Robert D Welch, Jose-Miguel Yamal, Luis Leon-Novelo, Richard Rubenstein, Kevin K W Wang

Faculty, Staff and Students Publications

Introduction: Tauopathies, including Alzheimer's disease (AD), feature abnormal accumulations of hyperphosphorylated Tau protein; however, their biomarker potential in traumatic brain injury (TBI) is not well-defined. This study investigated whether cerebrospinal fluid (CSF) phosphorylated Tau at threonine-217 (pTau-217) could serve as an early biomarker for severe TBI (sTBI).

Methods: CSF samples from 26 sTBI patients, collected between 6 and 240 h post-injury, and 19 healthy controls were analyzed using an optimized direct enzyme-linked immunosorbent assay (ELISA; sensitivity < 4.7 pg/mL) for pTau-217 detection, complemented by Western blot validation. Temporal analysis, ROC curves, and trajectory clustering were used for interpretation.

Results: CSF pTau-217 levels were significantly elevated in sTBI patients at 6, 12, 18, 24, and 48 h post-injury compared to controls (p …


Inferred Developmental Origins Of Brain Tumors From Single-Cell Rna-Sequencing Data, Su Wang, Rachel Naomi Curry, Malcolm F Mcdonald, Hyun Yong Koh, Anders W Erickson, Claudia L Kleinman, Michael D Taylor, Ganesh Rao, Benjamin Deneen, Arif O Harmanci, Akdes Serin Harmanci Jan 2025

Inferred Developmental Origins Of Brain Tumors From Single-Cell Rna-Sequencing Data, Su Wang, Rachel Naomi Curry, Malcolm F Mcdonald, Hyun Yong Koh, Anders W Erickson, Claudia L Kleinman, Michael D Taylor, Ganesh Rao, Benjamin Deneen, Arif O Harmanci, Akdes Serin Harmanci

Faculty, Staff and Students Publications

Background: The reactivation of neurodevelopmental programs in cancer highlights parallel biological processes that occur in both normal development and brain tumors. Achieving a deeper understanding of how dysregulated developmental factors play a role in the progression of brain tumors is therefore crucial for identifying potential targets for therapeutic interventions. Single-cell RNA-sequencing (scRNA-Seq) provides an opportunity to understand how developmental programs are dysregulated and reinitiated in brain tumors at single-cell resolution. The aim of this study is to identify the developmental origins of brain tumors using scRNA-Seq data.

Methods: Here, we introduce COORS (Cell Of ORigin like CellS), a computational tool …


The Fascist Economic Paradox: Countering And Co-Opting Capitalism And Socialism In Interwar Europe, Vicente Pérez Catalán Jan 2025

The Fascist Economic Paradox: Countering And Co-Opting Capitalism And Socialism In Interwar Europe, Vicente Pérez Catalán

History Undergraduate Departmental Honors Theses

One of the ambiguities within the study of fascism and political history in the 20th century is defining, in logical terms, the development of a coherent fascist economic identity. Three fascist governments will be examined in this project, Nazi Germany, Fascist Italy, and Vichy France, with the goal of understanding if there is indeed a distinction on their exertion of economic power as opposed to other ideological systems that could aid outlining fascism not merely as a political or philosophical doctrine, but perhaps also an economic one.

This study examines the political background prior to the formation of the three …


Affective Bias Predicts Changes In Depression During Deep Brain Stimulation Therapy, Brian Cui, Madaline M Mocchi, Brian A Metzger, Prathik Kalva, John F Magnotti, Jess G Fiedorowicz, Allison Waters, Christopher K Kovach, Yvonne Y Reed, Raissa K Mathura, Camille Steger, Bailey Pascuzzi, Kourtney Kanja, Ashan Veerakumar, Vineet Tiruvadi, Andrea Crowell, Lydia Denison, Christopher J Rozell, Nader Pouratian, Wayne Goodman, Patricio Riva Posse, Helen S Mayberg, Kelly Rowe Bijanki Jan 2025

Affective Bias Predicts Changes In Depression During Deep Brain Stimulation Therapy, Brian Cui, Madaline M Mocchi, Brian A Metzger, Prathik Kalva, John F Magnotti, Jess G Fiedorowicz, Allison Waters, Christopher K Kovach, Yvonne Y Reed, Raissa K Mathura, Camille Steger, Bailey Pascuzzi, Kourtney Kanja, Ashan Veerakumar, Vineet Tiruvadi, Andrea Crowell, Lydia Denison, Christopher J Rozell, Nader Pouratian, Wayne Goodman, Patricio Riva Posse, Helen S Mayberg, Kelly Rowe Bijanki

Faculty, Staff and Students Publications

Introduction: Deep brain stimulation (DBS) is a promising treatment for refractory depression, utilizing surgically implanted electrodes to stimulate specific anatomical targets within the brain. However, limitations of patient-reported and clinician-administered mood assessments pose obstacles in evaluating DBS treatment efficacy. In this study, we investigated whether an affective bias task, which leverages the inherent negative interpretation bias seen in individuals with depression, could serve as a reliable measure of mood changes during DBS therapy in patients with treatment-resistant depression.

Methods: Two cohorts of patients (n = 8, n = 2) undergoing DBS for treatment-resistant depression at different academic medical centers …


Learning-Associated Astrocyte Ensembles Regulate Memory Recall, Michael R Williamson, Wookbong Kwon, Junsung Woo, Yeunjung Ko, Ehson Maleki, Kwanha Yu, Sanjana Murali, Debosmita Sardar, Benjamin Deneen Jan 2025

Learning-Associated Astrocyte Ensembles Regulate Memory Recall, Michael R Williamson, Wookbong Kwon, Junsung Woo, Yeunjung Ko, Ehson Maleki, Kwanha Yu, Sanjana Murali, Debosmita Sardar, Benjamin Deneen

Faculty, Staff and Students Publications

The physical manifestations of memory formation and recall are fundamental questions that remain unresolved1. At the cellular level, ensembles of neurons called engrams are activated by learning events and control memory recall1-5. Astrocytes are in close proximity to neurons and engage in a range of activities that support neurotransmission and circuit plasticity6-10. Moreover, astrocytes exhibit experience-dependent plasticity11-13; however whether specific ensembles of astrocytes participate in memory recall remains obscure. Here we show that learning events induce c-Fos expression in a subset of hippocampal astrocytes, which subsequently …


Opsoclonus In Alternating Hemiplegia Of Childhood Secondary To Atp1a3 Pgly803arg, Alyssa D Runco, Jesse M Levine, Cristina Trandafir, Rod Foroozan, Mered Parnes, Daniel G Calame Jan 2025

Opsoclonus In Alternating Hemiplegia Of Childhood Secondary To Atp1a3 Pgly803arg, Alyssa D Runco, Jesse M Levine, Cristina Trandafir, Rod Foroozan, Mered Parnes, Daniel G Calame

Faculty, Staff and Students Publications

No abstract provided.


Disability In Exile: The "Union Of Russian Invalids" In Interwar Bulgaria And Yugoslavia, Evguenia Davidova Jan 2025

Disability In Exile: The "Union Of Russian Invalids" In Interwar Bulgaria And Yugoslavia, Evguenia Davidova

History Faculty Publications and Presentations

This article examines the post-war experience of a specific group of war veterans: the Russian refugees after the October Revolution in 1917. What happened when disabled veterans were stateless and dispersed among several foreign states? The focus is on comparing interwar Bulgaria and Yugoslavia, two countries on opposite sides of the Great War. There the refugees established various societies, mostly dominated by the military. Drawing on unpublished archival sources, this article investigates how the Russian societies for disabled persons functioned at four levels: amid the other Russian associations in Bulgaria and Yugoslavia; among the greater diaspora known as “Russia Abroad”; …


Htr1b Is Necessary For Normal Retinal Function In Mice, Solomon E Gibson, Xiaofeng Tao, Guofu Shen, Justin Ma, Yong H Park, Maria Polo-Prieto, Benjamin J Frankfort Jan 2025

Htr1b Is Necessary For Normal Retinal Function In Mice, Solomon E Gibson, Xiaofeng Tao, Guofu Shen, Justin Ma, Yong H Park, Maria Polo-Prieto, Benjamin J Frankfort

Faculty, Staff and Students Publications

Introduction: Serotonin (5-HT) is a neurotransmitter that is involved in retinal development, physiology, and vision, yet the specific contribution of individual 5-HT receptors to retinal function is poorly characterized. We identified 5-HT receptor 1B (Htr1b) as a potential key regulator of serotonergic signaling in the retina.

Methods: Htr1b localization was examined using RNAseq and in situ labeling. Retinal structure was assessed using histology and SD-OCT. Visual function was evaluated using optomotor behavioral experiments. Retinal function was characterized in vivo using electroretinography (ERG) and ex vivo using multielectrode array (MEA) recordings.

Results: Htr1b transcript and HTR1B protein localized primarily …


Comparative Analysis Of Imaging Modalities For Surveillance On Outcomes In Patients With Hepatocellular Carcinoma, Ahmed El Sabagh, Islam Mohamed, Mazen Elsheikh, Megha Bhongade, Eunji Jo, Susan G Hilsenbeck, Fasiha Kanwal, Prasun K Jalal Jan 2025

Comparative Analysis Of Imaging Modalities For Surveillance On Outcomes In Patients With Hepatocellular Carcinoma, Ahmed El Sabagh, Islam Mohamed, Mazen Elsheikh, Megha Bhongade, Eunji Jo, Susan G Hilsenbeck, Fasiha Kanwal, Prasun K Jalal

Faculty, Staff and Students Publications

Background and aims: The American Association for the Study of Liver Diseases recommends regular surveillance with ultrasonography (US) and alpha-feto protein every 6 months for patients at high risk of hepatocellular carcinoma (HCC). However, US is considered to be less effective than cross-sectional imaging modalities like computed tomography and magnetic resonance imaging for detecting early HCC. Limited data exist on the overall survival and receipt of curative treatment for patients undergoing surveillance with different imaging modalities.

Methods: We retrospectively reviewed patients (n = 1954) diagnosed with HCC between January 2011 and June 2021. Patients who developed HCC while on strict …