Medicine and Health Sciences Commons^™

Tracheobronchial Mucoepidermoid Carcinoma In Four Pediatric Patients, Kalen Hendra, Muhammad Ijlal Khan, Mitali Thanawala, Manuel Silva-Carmona, Eric D Zee

Faculty, Staff and Students Publications

Pediatric tracheobronchial mucoepidermoid carcinoma (MEC), also called pulmonary MEC, is a rare malignant primary lung neoplasm that is typically found in the large airways. Patients may present with symptoms such as cough, pneumonia, fever, hemoptysis, dyspnea, wheezing, chest pain, weight loss, and fatigue. These nonspecific symptoms (or lack of symptoms in some cases) often result in a delayed diagnosis. Chest CT typically demonstrates findings consistent with bronchial obstruction and diagnosis is made via histopathology. Surgical resection is the mainstay of treatment and children often have favorable outcomes. Here we present four cases of tracheobronchial MEC in children treated at three …

Prevalence Of Substance Use In Northwest Syria: A Cross-Sectional Study, Isabel Draper, Dania Albaba, Heba Mesbah, Huda Taktak, Nidhal Saadoun, Mohammad Alhusein, Elharit Alissa, Anas Barbour, Zaher Sahloul, Nidal Moukaddam

Faculty, Staff and Students Publications

Objectives: Syria has undergone significant socio-political turmoil since 2011 as internal conflict displaced portions of the population, destroyed infrastructure, and destabilized the economy. In the context of multilevel healthcare system disruptions, there have been increasing reports of substance use. This study seeks to evaluate patterns of substance use in Northwestern Syria.

Methods: Trained staff administered questionnaires to community members in Azaz, Syria. Questions focused on the substance use prevalence, societal and public health impacts, and perspectives on treatment availability.

Results: 480 individuals were surveyed (80·88% male, 19·12 % female; 43·39% were 18-25 yrs, 11·5% reported personal substance use). H-booz (amphetamines), …

Variability In Documentation Of Neurological And Psychiatric Examinations Among Emergency Department Patients With Behavioral Health-Related Presentations: A Retrospective Study, Heba Mesbah, Payton Kim, Jide Oluwadare, Abdulelah Almanie, Inaara Malick, Nidal Moukaddam

Faculty, Staff and Students Publications

Background: Emergency departments (EDs) serve as a critical safety net for individuals experiencing acute behavioral health crises, a population that faces substantial medical morbidity and well-documented disparities in healthcare delivery. Thorough physical and neuropsychiatric assessment is essential in this setting to identify medical conditions that may mimic or exacerbate psychiatric symptoms. Incomplete documentation of these assessments may reflect gaps in care processes and represent a potential marker of inequity.

Objective: To characterize the completeness of documented neurological and psychiatric examinations among adult ED patients presenting with primary behavioral health-related chief complaints and to assess whether documentation patterns suggest persistent gaps …

Phase I Study Of Niraparib With Radiotherapy For Treatment Of Metastatic And Locally Advanced Invasive Carcinoma Of The Cervix (Nivix), Piyush Pathak, Eunji Jo, Susan Hilsenbeck, Matthew L Anderson, Alfredo Echeverria, Shelly Sharma, Jan Sunde, Tracilyn Hall, Anthony Costales, Claire Hoppenot, Michelle Ludwig

Faculty, Staff and Students Publications

Introduction: This Phase I study evaluated the safety and tolerability of concurrent niraparib, an oral poly(ADP-ribose) polymerase (PARP) 1/2 inhibitor, with definitive radiotherapy in women with locally advanced or platinum-sensitive metastatic cervical cancer. Dose escalation followed a Bayesian Optimal Interval (BOIN) design with a target dose-limiting toxicity (DLT) rate of 30%.

Methods: Women ≥18 years with FIGO stage IIIC2 (bulky nodes >1 cm) or stage IV cervical cancer demonstrating response to platinum-based induction chemotherapy were eligible. Niraparib 100 mg was administered daily concurrent with pelvic radiotherapy (45-57.5 Gy via IMRT with nodal boosts) and brachytherapy, continuing 28 days post-radiation. Per …

Phase 1 Trial Of Withania Somnifera Leaf Extract (Rh324) In Advanced Non-Small Cell Lung Cancer Including [18f]Fdg Pet/Ct As A Short-Term Metabolic Biomarker To Assess Efficacy: A Novel Model For Assessment Of Complimentary Therapies In Early Phase Human Clinical Trials, Jin Uk Heo, Santosh Rao, Herbert B Newton, Afshin Dowlati, Raymond F Muzic, Arash Kardan

Faculty, Staff and Students Publications

Background: Withania somnifera (WS), commonly known as ashwagandha, has been used in the traditional medical system of India. It has shown significant activity against numerous solid tumor varieties in pre-clinical in vitro and in vivo studies. This study focuses on RH324 (ReHeva Biosciences, Columbus, OH), a pharmaceutical-grade formulation derived from WS, which has received FDA allowance for clinical development as a botanical drug in the treatment of cancer.

Methods: A phase 1 open label dose ranging study of oral RH324 in advanced non-small cell lung cancer (NSCLC) was conducted. The primary endpoint of the study was assessment of short-term safety …

Beyond Drugs And Surgery: Superselective Adrenal Artery Embolization Redefines Primary Aldosteronism Management-A Systematic Review And Meta-Analysis, Kimia Darmiani, Mehrad Zare, Alisa Mohebbi, Mohammad Mirza-Aghazadeh-Attari, Mohammad Ghasemi Rad, Afshin Mohammadi

Faculty, Staff and Students Publications

Background: Primary aldosteronism (PA) is a leading cause of secondary hypertension associated with increased cardiovascular and cerebrovascular risk. Superselective adrenal artery embolization (SAAE) has emerged as a minimally invasive alternative to adrenalectomy and mineralocorticoid receptor antagonists (MRAs). This systematic review and meta-analysis evaluates the efficacy and safety of SAAE in PA management.

Methods: We searched PubMed, Web of Science, Embase, and Cochrane Library through June 2026 for studies enrolling patients with PA treated by SAAE. Outcomes of interest were changes in blood pressure (BP), biochemical markers (serum potassium, aldosterone, renin activity, and aldosterone-to-renin ratio), clinical and biochemical response rates, daily …

Updates In Mycobacterial Keratitis Diagnosis And Treatment, Uma L Balakrishnan, Ryan T Wallace, Patricia Chévez-Barrios, Alejandro Arboleda, Masih U Ahmed

Faculty, Staff and Students Publications

Mycobacterial keratitis is an uncommon but challenging form of infectious keratitis, often associated with postsurgical eyes. Clinical presentation is variable and may be difficult to recognize, resulting in delays in diagnosis and challenges in management. Traditional diagnostic techniques from corneal scrapings are limited by slow organism growth and may yield negative results. Treatment is challenging due to antimicrobial resistance and typically requires prolonged multidrug therapy. Advances in diagnostic modalities, antimicrobial therapies, surgical approaches, and adjunctive treatments such as corneal crosslinking have improved clinicians' ability to mitigate or avoid severe visual consequences. Despite these developments, optimal management strategies remain incompletely defined, …

Combination Therapy With 308-Nm Excimer Laser, Compound Glycyrrhizin, And Tacrolimus For Pediatric Facial And Cervical Vitiligo, Yingying Qian, Yafen Wu, Wei Li, Qian Chen, Siyuan Song, Ting Zhang

Faculty, Staff and Students Publications

Background: Vitiligo is a common acquired depigmenting disorder in pediatric dermatology. Facial and cervical involvement is particularly distressing due to cosmetic disfigurement, leading to psychosocial impairment in children and significant psychological burden for parents. Safe and effective treatment strategies to halt disease progression and promote repigmentation are urgently needed.

Objective: To evaluate the clinical efficacy, onset of repigmentation, safety, and repigmentation patterns of 308-nm excimer laser combined with oral compound glycyrrhizin and topical 0.03% tacrolimus in children with facial and cervical vitiligo.

Methods: A total of 112 pediatric patients were randomized into two groups: treatment group (n=56, 86 lesions) received …

Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Wei Li, Xiaoyi Bai, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Fetuses with fetal growth restriction (FGR) and selective FGR (sFGR) face elevated health risks both before and after birth. Although the underlying pathomechanisms remain unclear, placental dysfunction is recognized as a major contributing factor. By integrating untargeted transcriptomic data from FGR/sFGR placentae, this study identified 69 differentially expressed mRNAs (DEmRs) and eight differentially expressed miRNAs (DEmiRs). Functional enrichment analysis demonstrated significant enrichment in the angiogenesis and vasculogenesis pathways, with the hypoxia-related genes

Developing And Evaluating A Young Adult Peer Mentor Training Program, Beth H Garland, Demonica L Jones, Cassandra J Enzler, Jean L Raphael, Albert C Hergenroeder, Rachel S Wolfe, Sarah C Graham, Constance M Wiemann

Faculty, Staff and Students Publications

Improving self-management skills for adolescents and emerging adults (AEA) with chronic health conditions is critical for successful transition to adult-based care. Peer-mentoring has been effective in improving the self-management skills of AEA. However, the components of training a successful young adult peer mentors (YAPM), especially interpersonal aspects of the role, such as communication skills and navigating mentee ambivalence are not well understood. This descriptive study created and pilot-tested a training curriculum for YAPM as part of a larger study to build self-management skills in the context of healthcare transition from pediatric to adult care. Five YAPM completed the training curriculum. …

The Lived Experience Of Pediatric Pain Management: Insights From Families And Providers, Samrithaa Balakrishnan, Annesha Dey, Aarti Bavare, Paul Checchia, Katherine Shwetz, Natasha Afonso

Faculty, Staff and Students Publications

Pain represents a subjective experience that manifests with emotional and physical discomfort. In pediatric care, pain management is especially complex due to communicative limitations, which creates a unique point of entry for parents to contribute to their child's treatment process. In this study, we explored whether families' perceptions of their child's pain and preferences for treatment were aligned with healthcare providers' pain management decisions. Using narrative-informed techniques in interviews with families and healthcare providers in pediatric care settings, we analyzed areas of concordance and discordance in pain assessment and treatment priorities. Our findings show that trust is built over time …

Point-Of-Care Ultrasound Foundations In Physics And Image Acquisition: An Innovative Hands-On Active Learning Workshop, Cherie Tator, Saul Flores, Alan Riley, Kiyetta Alade

Faculty, Staff and Students Publications

Introduction: We developed an innovative, active learning workshop to introduce foundations of point-of-care ultrasound (POCUS) physics and instrumentation. The workshop design aimed to reduce cognitive load and encourage learner-centered engagement through hands-on exploration that reinforces key principles and connects theory to practice.

Methods: First-year medical students participated in small-group, student-driven exercises to explore POCUS machine controls, transducers, and image acquisition skills. Each group was supported by a faculty member to guide activities and ensure accuracy. Students scanned pickles, hard-boiled eggs, and olives with pits; these items were selected for their low cost, sonographic characteristics, and recognizability. Later in the semester, …

Host- And Pathogen-Related Determinants Of Pulmonary Versus Extrapulmonary Tuberculosis, Begna Tulu, Thomas Theo Brehm, Reinout Van Crevel, Tobias Dallenga, Andrew R Dinardo, Keertan Dheda, Johanna Eggeling, Wendemagegn Enbiale, Matthias I Gröschel, Jialun Hao, Vinod Kumar, Arjan Van Laarhoven, Rolanda Londt, Gareth Prosser, Philippa Randall, Norbert Reiling, Jan Rybniker, Ulrich E Schaible, Erwin Schurr, Isabelle Suarez, Sebastian J Theobald, Robert J Wilkinson, Christoph Lange

Faculty, Staff and Students Publications

Tuberculosis (TB) primarily manifests as pulmonary TB (PTB), but extrapulmonary TB (EPTB) remains a major clinical challenge. Distinct diagnostic and therapeutic difficulties arise from differences in immune responses, pathogen behaviour and host susceptibility. However, the factors driving disease localisation are still incompletely understood. We conducted a comprehensive narrative review of studies examining differences between PTB and EPTB in terms of epidemiology, mycobacterial factors, genetic and epigenetic determinants, host immune responses, transcriptomic profiles, cytokine and chemokine patterns, and immunophenotypes. EPTB is more common among females, children, older adults and immunocompromised individuals with deficient granuloma formation. This review is intended to provide …

Mir-302 Regulates Pancreatic Progenitor Pool And Pancreatic Size, Ziyue Z Yang, Caroline G Snider, Ronald J Parchem

Faculty, Staff and Students Publications

Disruptions in pancreatic development can lead to health issues such as pancreatic agenesis and congenital diabetes mellitus. Understanding pancreatic organogenesis is critical for elucidating disease mechanisms and developing regenerative therapies. The pancreas consists of endocrine and exocrine cells, both of which are derived from multipotent progenitor cells (MPCs). MPC proliferation and differentiation are tightly controlled by multiple mechanisms, including post-transcriptional regulation by miRNAs. However, these regulatory factors are not fully understood. Here, we profiled miRNA expression in MPCs and identified that mir-302 was highly enriched during the earliest stages of pancreatic development. Loss of mir-302 resulted in reduced pancreatic size …

Surface Marker Identification To Capture Live Circulating Tumor Cells In Metastatic Triple-Negative Breast Cancer, Bree M Lege, Khushali J Patel, Brendan Panici, Ping Gong, Michael T Lewis, Matthew J Ellis, Chonghui Cheng

Faculty, Staff and Students Publications

Metastatic triple-negative breast cancer (TNBC) is highly aggressive and lacks targeted therapies. Circulating tumor cells (CTC) are invaluable for monitoring metastatic tumor progression and treatment response but are difficult to capture because of their rarity and heterogeneity. Surface-based staining for live CTCs is essential to preserve RNA quality in single cells, but current markers tend to perform poorly on more mesenchymal tumor cells such as TNBCs. To enhance live TNBC CTC detection, we developed a workflow for live CTC capture and single-cell RNA sequencing (scRNA-seq). Using a mouse model of metastatic TNBC, we identified four new CTC surface markers, AHNAK2, …

Lysine Demethylase 4a Is A Centrosome-Associated Protein Required For Centrosome Integrity And Genomic Stability, Pratim Chowdhury, Xiaoli Wang, Richard I Han, Manga Motrapu, Ashley G Boice, Yuya Nakatani, Sofia Vargas-Hernandez, Julia F Love, Claude Chew, Sandra L Grimm, Dereck Mezquita, Frank M Mason, Elisabeth D Martinez, Cristian Coarfa, Cheryl L Walker, Anna-Karin Gustavsson, Ruhee Dere

Faculty, Staff and Students Publications

Centrosomes play a fundamental role in nucleating and organizing microtubules in the cell and are vital for faithful chromosome segregation and maintenance of genomic stability. Loss of structural or functional integrity of centrosomes causes genomic instability and is a driver of oncogenesis. Here we identify lysine demethylase 4A (KDM4A), an epigenetic 'eraser' of chromatin methyl marks, as a centrosome-localized protein, visualized at the nanometer-scale resolution. We additionally uncovered that KDM4A demethylase enzymatic activity is required to maintain centrosome homeostasis and integrity; a previously unknown functionality unlinked to altered expression of genes regulating centrosome number. We find that KDM4A interacts with …

The ‘Obesity Paradox’ In Patients Undergoing Transcatheter Aortic Valve Implantation. A Specialized Narrative Review, Johao Escobar, Iqra Riaz, Muzamil Khawaja, Hafeez Ul Hassan Virk, Joshua Hahn, Fu''Ad Al-Azzam, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Obesity has long been identified as a noteworthy risk factor for cardiovascular diseases, including aortic stenosis. Nevertheless, an unexplained phenomenon known as the obesity paradox has arisen in the context of transcatheter aortic valve implantation (TAVI), inquiring conventional beliefs. The obesity paradox refers to better clinical outcomes observed in obese individuals undergoing TAVI. These include reduced all-cause mortality, lower rates of procedural complications, and improved long-term survival rates compared to their lean counterparts. Several theories have been proposed to explain the obesity paradox in TAVI. One of the most popular is the adipose tissue-mediated cardioprotective effect hypothesis. It is known …

Midterm Outcomes Of The Self-Expanding Navitor Transcatheter Heart Valve: A Systematic Review And Meta-Analysis., Sahar Samimi, Chloe Kharsa, Mangesh Kritya, Joe Aoun, Syed Zaid, Nadeen N Faza, Stephen H Little, Neal S Kleiman, Michael J Reardon, Sachin S Goel

Faculty, Staff and Students Publications

• A 19-study meta-analysis (7743 patients) found high Navitor technical/device success.
• ≥Moderate PVL was low: 1.3% at 30 days and 0.6% at 1 year.
• Pacemaker implantation was 16.7% at 30 days and 20.4% at 1 year.
• Thirty-day outcomes were favorable: all-cause mortality 1.5% and stroke 1.7%.

Comparing Rotational Thromboelastometry And Standard Coagulation Assays For Predicting Intraoperative Bleeding In Pediatric Liver Transplantation, Kirby Deshotels, Trung Nguyen, Jun Teruya, Muhammed Umair M Mian, Kelby Fuller, Sanjiv Harpavat, Anna Banc-Husu, Amir Navaei, John Goss, Moreshwar Desai, Arun Saini

Faculty, Staff and Students Publications

Background: Utility of preoperative rotational thromboelastometry (ROTEM) over standard coagulation assays (SCAs) in predicting intraoperative bleeding during orthotopic liver transplantation (OLT) in children with liver failure (LF) remains unclear.

Methods: In this single-center retrospective cohort of pediatric OLT recipients, we compared the predictive values of preoperative ROTEM parameters (intrinsic pathway (INTEM) maximum clot firmness (MCF), extrinsic pathway (EXTEM) clotting time (CT), INTEM CT, and fibrinogen-based (FIBTEM) MCF) and the corresponding SCAs (platelet count, international normalized ratio (INR), activated partial thromboplastin time (aPTT), and fibrinogen level, respectively) for significant intraoperative bleeding (blood loss of > 22 mL/kg; i.e., ≥ 85th percentile for …

Assessment Of In-Frame Indel Variants In An Unsolved Cohort Of Inherited Retinal Diseases Using Machine Learning, David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li, Molly Marra, Mark E Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen

Faculty, Staff and Students Publications

The standard for in silico pathogenicity prediction of in-frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML) tools on a patient cohort with inherited retinal diseases (IRDs). The performance of four ML tools (CADD, FATHMM-indel, VEST4, and MetaRNN-indel) was compared. Among them, MetaRNN-indel showed the best overall results. MetaRNN-indel was then applied to 1013 unsolved IRD patients, identifying two likely pathogenic causal variants in two unrelated IRD patients by confirming clinical phenotypes. Hence, our findings indicate that reliable prediction of the pathogenicity …

Modulation Of Corneal Sensory Processing And Pain Responses By Dry Eye And Corneal Wounding, Ebru Yaman, Yangluowa Qu, Kaylin C Arpaia, Fairouz Elsaeidi, Uma Lakshmi Balakrishnan, Lance He, Henry Skrehot, Jehan Alam, Rui Chen, Mary Ann Stepp, Cintia S De Paiva, Stephen C Pflugfelder

Faculty, Staff and Students Publications

Background: Dry eye disease (DED) is a multifactorial disorder of the ocular surface in which tear film instability, epithelial barrier disruption, and neurosensory dysfunction contribute to symptom generation. Although several contributing factors have been identified, how different forms of ocular surface stress affect sensory pathways and behavioral responses remains unclear.

Purpose: This study aimed to evaluate corneal barrier function, sensory responses, and pain-related behaviors across acute and chronic dry eye and corneal injury models, and to assess stimulus-specific responses associated with TRPV1 and TRPM8 mediated pathways.

Methods: Female C57BL/6 J wild type and Mmp9KO mice were evaluated in acute desiccating …

Strategies And Challenges For The Recruitment Of Young Healthy Participants In The Dietary Approaches To Longevity And Health (Dial Health) Pilot Trial, Hannah E Cabre, Courtney M Peterson, Gareth R Dutton, Kimberly L Drews, Stephanie T Broyles, Robert Dubin, Laura Q Rogers, Catherine Champagne, Dennis T Villareal, Daniel S Hsia, Leanne M Redman, Corby K Martin

Faculty, Staff and Students Publications

Background: Understanding the impact of nutrition on human aging requires long-term trials in young, healthy, unmedicated adults. As part of the Dietary Approaches for Longevity and Health (DiAL Health) pilot project, we evaluated strategies for recruiting this population for aging-related dietary intervention studies.

Methods: We analyzed recruitment costs to enroll 70 participants (ages 25-49, BMI 22.0-29.9 kg/m2) across two DiAL Health sites and used NHANES data (2017-March 2020) to estimate the proportion of U.S. adults meeting partial trial eligibility. Additionally, a formative study surveyed 492 U.S. adults (≥18 years) to assess interest in aging-focused dietary trials.

Results: Of 2049 applicants …

Differences In Gene Expression May Contribute To The Racial Differences In The Risk Of Masld, Ivan P Gorlov, Olga Y Gorlova, Aaron P Thrift

Faculty, Staff and Students Publications

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), exhibits marked racial disparities in incidence, progression, and clinical outcomes. While diet, lifestyle, and socioeconomic factors have been shown to influence these disparities, biological mechanisms underlying racial differences in MASLD risk remain poorly understood. We hypothesized that race-associated variation in hepatic gene expression may contribute to differential susceptibility and progression of MASLD. To test this hypothesis, we analyzed publicly available gene expression data from liver biopsies obtained from over 300 Black and White individuals undergoing bariatric surgery. Gene expression profiles were compared across four histological stages: …

A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Isabel A Danstrom, Joshua A Adkinson, Zoe Liu, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki

Faculty, Staff and Students Publications

Background: Single-pulse electrical stimulation (SPES) can help guide neuromodulation therapy in an iterative process to reveal ideal circuits and degrees of engagement. Understanding the relationship between parameter input and neural output will be necessary both to build informative models of the brain's functional connectivity and to improve responses to stimulation-based neuromodulation therapies. Modulating pulse width alters the total charge delivered to neural tissue and is thought to selectively activate fibers with different diameters, potentially shifting therapeutic thresholds. The anterior cingulate cortex (ACC) and orbitofrontal cortex (OFC) are of great clinical relevance to the pathophysiology and treatment of neuropsychiatric disorders.

Objective: …

Transient Disruption Of Bladder Control Linked To Periaqueductal Gray Fibers Following Deep Brain Stimulation For Psychiatric Disorders, Thomas Hamre, Hideo Suzuki, Sarah Soubra, Reem El Jammal, Melissa A Ryan, Sanjay J Mathew, Jeffrey A Herron, Nidal Moukaddam, Eric A Storch, Nora Vanegas Arroyave, Kara L Marshall, Garrett P Banks, Nader Pouratian, Wayne K Goodman, Nicole R Provenza, Sameer A Sheth, Sarah R Heilbronner

Faculty, Staff and Students Publications

No abstract provided.

Validation Of The Norwegian Version Of The Movement Disorder Society-Unified Parkinson's Disease Rating Scale, Guido Alves, Yvonne Stavland Sørenes, Veslemøy Hamre Frantzen, Michaela Dreetz Gjerstad, Anders Ledaal Bjørnestad, Jodi Maple-Grødem, Elin Bjelland Forsaa, Ylva Hivand Hiorth, Karen Herlofson, Espen Benjaminsen, Kari Anne Bjørnarå, Espen Dietrichs, Roberta Balestrino, Carmen Gasca-Salas, Chi-Ying R Lin, Alvaro Sanchez-Ferro, Michelle H S Tosin, Tiago A Mestre, Monica M Kurtis, Pablo Martinez-Martin, Sheng Luo, Luowen Yu, Glenn T Stebbins, Christopher G Goetz, Mds Coa Translation Steering Committee

Faculty, Staff and Students Publications

Introduction: The Movement Disorder Society-revised version of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is the gold standard assessment for evaluating Parkinson's disease (PD) symptoms and severity, but a validated Norwegian version is not yet available. We translated the original English MDS-UPDRS into Norwegian and tested the clinimetrics of the translated version following the MDS-established protocol for non-English language translations.

Methods: Two independent teams translated the English version of the MDS-UPDRS into Norwegian. After review of the back-translated English version, cognitive pretesting was performed in twelve PD patients at one study site. This was followed by large-scale testing completed by …

Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin

Faculty, Staff and Students Publications

Objective: Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.

Methods: The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the percentages of patients with SCA subtypes 1, 2, 3, and 6 who reported suicidal ideation and comparing findings with nationally representative data from the National Survey on Drug Use and Health (NSDUH). Clinical characteristics that may contribute to suicidal ideation in SCAs, including age, disease duration, sex, ataxia severity, depression, …

A Balancing Act: Amyloid-Β, Tau, And Excitation-Inhibition In Alzheimer's Disease, Manuel Silva-Pérez, Jeannie Chin

Faculty, Staff and Students Publications

A growing body of evidence shows that epileptic activity is frequently observed in patients with Alzheimer's disease (AD), implicating underlying excitatory–inhibitory imbalance. The distinction of whether the AD-epileptic phenotype represents a subset of patients or an underdiagnosed manifestation holds major therapeutic implications. Here, we quantified the excitatory–inhibitory imbalance in AD patients using magnetoencephalography and examined the relationships to AD pathophysiology—amyloid-beta and tau, and to epileptic activity. We used two metrics to quantify regional excitatory–inhibitory imbalance distinguishing between local hyperexcitability (Neural excitability, quantified by regional aperiodic spectral slope) and aberrant long-range synaptic input integration (Neural fragility, quantified by …

Noradrenergic Innervation Across Brain Regions Is Altered By Aging And By Disease Progression In A Mouse Model Of Alzheimer’S Disease Neuropathology, Nicole M Hernandez, Manuel Silva-Pérez, Jeannie Chin

Faculty, Staff and Students Publications

Norepinephrine plays critical roles in modulating arousal and attention, is highly dynamic in awake, behaving individuals, and has anti-inflammatory and neuroprotective actions. Notably, the locus coeruleus (LC), the primary source of norepinephrine in the central nervous system, is among the first brain regions to show pathological alterations in early stages of Alzheimer's disease (AD). LC neuronal loss and associated reductions in norepinephrine in the brain have therefore been postulated to play a key role in AD pathophysiology. LC neurons and their axons have been studied in several mouse models of AD-related neuropathology to investigate their contribution to brain dysfunction in …

Age-Related Variations Of The Hemodynamic Response Function Spatially Resolved Across Human Cerebral Cortex, Nooshin J Fesharaki, Amanda Taylor, David Ress

Faculty, Staff and Students Publications

Normal aging leads to regional vascular and neural alterations. Age-related impairments in neurovascular coupling (NVC) affect the blood-oxygen-level-dependent (BOLD) hemodynamic response function (HRF) measured with functional magnetic resonance imaging, causing changes in both amplitude and temporal dynamics. Previously, global, systematic age-related changes in HRF characteristics were demonstrated, consistent with known microvascular aging effects. In this follow-up study, a standard space was used to compare spatially resolved cortical HRF dynamics between sex-balanced groups of young and older adults. The results showed substantial age-related differences in both HRF amplitude and timing across distinct cortical regions. Nearly twice as much cortical area exhibited …