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Articles 1621 - 1650 of 5881

Full-Text Articles in Neurology

Neurotoxicity And Outcomes From Developmental Lead Exposure: Persistent Or Permanent?, Jay S. Schneider Aug 2023

Neurotoxicity And Outcomes From Developmental Lead Exposure: Persistent Or Permanent?, Jay S. Schneider

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Background:

Childhood lead poisoning remains an important public health issue in the United States, as well as elsewhere in the world. Although primary prevention is a major goal and it is critically important to keep children from getting poisoned, it is also important to explore ways to reduce the neurotoxic effects of lead in those children already poisoned. Whether lead-induced neurotoxicity and its related adverse outcomes are viewed as “permanent” or “persistent” may influence the way in which potential remediation efforts are considered for improving outcomes from childhood lead poisoning.

Objectives:

The objective of this commentary was to discuss the …


Early Treatment With Vigabatrin Does Not Decrease Focal Seizures Or Improve Cognition In Tuberous Sclerosis Complex: The Prevent Trial, Elizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, Tarrant O Mcpherson, Sarah O'Kelley, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M Mcclintock, Mary Kay Koenig, Mike D Frost, Hope A Northrup, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Fred Biasini, Kalyani Peri, Gary Cutter, Darcy A Krueger Aug 2023

Early Treatment With Vigabatrin Does Not Decrease Focal Seizures Or Improve Cognition In Tuberous Sclerosis Complex: The Prevent Trial, Elizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, Tarrant O Mcpherson, Sarah O'Kelley, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M Mcclintock, Mary Kay Koenig, Mike D Frost, Hope A Northrup, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Fred Biasini, Kalyani Peri, Gary Cutter, Darcy A Krueger

Faculty, Staff and Student Publications

Objective: This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of age.

Methods: A phase IIb multicenter randomized double-blind placebo-controlled trial was conducted of vigabatrin at first epileptiform electroencephalogram (EEG) versus vigabatrin at seizure onset in infants with TSC. Primary outcome was Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) cognitive assessment score at 24 months. Secondary outcomes were prevalence of drug-resistant epilepsy, additional developmental outcomes, and safety of vigabatrin.

Results: Of 84 infants enrolled, 12 were screen failures, 4 went straight to …


Early Treatment With Vigabatrin Does Not Decrease Focal Seizures Or Improve Cognition In Tuberous Sclerosis Complex: The Prevent Trial, Elizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, Tarrant O Mcpherson, Sarah O'Kelley, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M Mcclintock, Mary Kay Koenig, Mike D Frost, Hope A Northrup, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Fred Biasini, Kalyani Peri, Gary Cutter, Darcy A Krueger Aug 2023

Early Treatment With Vigabatrin Does Not Decrease Focal Seizures Or Improve Cognition In Tuberous Sclerosis Complex: The Prevent Trial, Elizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, Tarrant O Mcpherson, Sarah O'Kelley, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M Mcclintock, Mary Kay Koenig, Mike D Frost, Hope A Northrup, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Fred Biasini, Kalyani Peri, Gary Cutter, Darcy A Krueger

Faculty, Staff and Student Publications

Objective: This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of age.

Methods: A phase IIb multicenter randomized double-blind placebo-controlled trial was conducted of vigabatrin at first epileptiform electroencephalogram (EEG) versus vigabatrin at seizure onset in infants with TSC. Primary outcome was Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) cognitive assessment score at 24 months. Secondary outcomes were prevalence of drug-resistant epilepsy, additional developmental outcomes, and safety of vigabatrin.

Results: Of 84 infants enrolled, 12 were screen failures, 4 went straight to …


Isolated Cerebral Mucormycosis And Aspergillosis Coinfection In An Immunocompromised Adult, George Sun, Allison Weiss, Joy Zhao, Mitchell Silver, Michael Demaio, Sara Dehbashi Aug 2023

Isolated Cerebral Mucormycosis And Aspergillosis Coinfection In An Immunocompromised Adult, George Sun, Allison Weiss, Joy Zhao, Mitchell Silver, Michael Demaio, Sara Dehbashi

Department of Neurology Faculty Papers

Opportunistic fungal infections are a major cause of mortality in immunosuppressed patients, with mucormycosis and aspergillosis as two of the most commonly identified fungal organisms. Coinfection with mucormycosis and aspergillosis is rare, but cases have been reported in literature, most commonly presenting as disseminated invasive fungal infection with cerebrorhino-orbital involvement in an immunocompromised patient. Infections are most commonly caused by direct implantation of spores with localised angioinvasion. Haematogenous spread is rare, with most cases secondary to haematological malignancies or intravenous drug use. Coinfection with mucormycosis and aspergillosis portends a poor prognosis, with a high mortality rate. Thus, prompt recognition and …


Cost-Effectiveness Of Ticagrelor Plus Aspirin Versus Aspirin In Acute Ischaemic Stroke Or Transient Ischaemic Attack: An Economic Evaluation Of The Thales Trial, Amarjeet Tank, S Claiborne Johnston, Ritika Jain, Pierre Amarenco, Carl Mellström, Klas Rikner, Hans Denison, Per Ladenvall, Mikael Knutsson, Anders Himmelmann, Scott R Evans, Stefan James, Carlos A Molina, Yongjun Wang, Mario Ouwens Aug 2023

Cost-Effectiveness Of Ticagrelor Plus Aspirin Versus Aspirin In Acute Ischaemic Stroke Or Transient Ischaemic Attack: An Economic Evaluation Of The Thales Trial, Amarjeet Tank, S Claiborne Johnston, Ritika Jain, Pierre Amarenco, Carl Mellström, Klas Rikner, Hans Denison, Per Ladenvall, Mikael Knutsson, Anders Himmelmann, Scott R Evans, Stefan James, Carlos A Molina, Yongjun Wang, Mario Ouwens

Faculty, Staff and Student Publications

OBJECTIVE: THALES demonstrated that ticagrelor plus aspirin reduced the risk of stroke or death but increased bleeding versus aspirin during the 30 days following a mild-to-moderate acute non-cardioembolic ischaemic stroke (AIS) or high-risk transient ischaemic attack (TIA). There are no cost-effectiveness analyses supporting this combination in Europe. To address this, a cost-effectiveness analysis was performed.

METHODS: Cost-effectiveness was evaluated using a decision tree and Markov model with a short-term and long-term (30-year) horizon. Stroke, mortality, bleeding and EuroQol-5 Dimension (EQ-5D) data from THALES were used to estimate short-term outcomes. Model transitions were based on stroke severity (disabling stroke was defined …


Patient-Reported Value Of A Standardized Welcome Letter For Huntington Disease Clinic, Kirthan S. Reddy, Shayan Abdollah Zadegan, Jorge Patino, Frank Ramirez, Amber Mccarthy, Natalia Pessoa Rocha, Erin Furr Stimming Aug 2023

Patient-Reported Value Of A Standardized Welcome Letter For Huntington Disease Clinic, Kirthan S. Reddy, Shayan Abdollah Zadegan, Jorge Patino, Frank Ramirez, Amber Mccarthy, Natalia Pessoa Rocha, Erin Furr Stimming

Teaching in Clinics

Communication is an essential component of patient satisfaction, which can be especially challenging in patients with neurobehavioral symptoms. As an effective form of communication, Patient Welcome Letter (PWL) should be designed in a way to cover a wide range of literacy. We designed a PWL for our Huntington Disease (HD) clinic using readability and suitability measures. Of the 80 patients that received the PWL, 47 filled out the survey. A majority of patients (>90%) found the PWL clear, understandable, and well-organized. The PWL was deemed valuable overall by 91.4% of participants.


A Novel Virtual-Based Comprehensive Clinical Approach To Headache Care, Thomas Berk, Stephen Silberstein, Peter Mcallister Aug 2023

A Novel Virtual-Based Comprehensive Clinical Approach To Headache Care, Thomas Berk, Stephen Silberstein, Peter Mcallister

Department of Jefferson Headache Center Papers and Presentations

One major innovation, a result of the coronavirus pandemic, has been the proliferation of telemedicine. Telehealth can help solve the access problems that plague headache medicine, allowing patients in areas with no headache expertise to consult and work with a headache specialist. This is a retrospective chart review of patients seen by Neura Health, a comprehensive app-based telehealth headache center. Patients are seen by a specialist and, in addition to any medical recommendations, are given care plans individualized to their condition and recommendations at the end of their clinical appointments. The primary outcome of this study is a decrease in …


Computational Modeling And Minimization Of Unintended Neuronal Excitation In A Lifu Stimulation, Boqiang Fan, Wayne Goodman, Raymond Y Cho, Sameer A Sheth, Richard R Bouchard, Behnaam Aazhang Aug 2023

Computational Modeling And Minimization Of Unintended Neuronal Excitation In A Lifu Stimulation, Boqiang Fan, Wayne Goodman, Raymond Y Cho, Sameer A Sheth, Richard R Bouchard, Behnaam Aazhang

Faculty, Staff and Student Publications

The neuromodulation effect of low-intensity focused ultrasound (LIFU) is highly target-specific. Unintended off-target neuronal excitation can be elicited when the beam focusing accuracy and resolution are limited, whereas the resulted side effect has not been evaluated quantitatively. There is also a lack of methods addressing the minimization of such side effects. Therefore, this work introduces a computational model of unintended neuronal excitation during LIFU neuromodulation, which evaluates the off-target activation area (OTAA) by integrating an ultrasound field model with the neuronal spiking model. In addition, a phased array beam focusing scheme called constrained optimal resolution beamforming (CORB) is proposed to …


Labeling Piezo2 Activity In The Peripheral Nervous System, Nicholas W Villarino, Yasmeen M F Hamed, Britya Ghosh, Adrienne E Dubin, Amanda H Lewis, Max A Odem, Meaghan C Loud, Yu Wang, M Rocio Servin-Vences, Ardem Patapoutian, Kara L Marshall Aug 2023

Labeling Piezo2 Activity In The Peripheral Nervous System, Nicholas W Villarino, Yasmeen M F Hamed, Britya Ghosh, Adrienne E Dubin, Amanda H Lewis, Max A Odem, Meaghan C Loud, Yu Wang, M Rocio Servin-Vences, Ardem Patapoutian, Kara L Marshall

Duncan NRI Faculty and Staff Publications

Sensory neurons detect mechanical forces from both the environment and internal organs to regulate physiology. PIEZO2 is a mechanosensory ion channel critical for touch, proprioception, and bladder stretch sensation, yet its broad expression in sensory neurons suggests it has undiscovered physiological roles. To fully understand mechanosensory physiology, we must know where and when PIEZO2-expressing neurons detect force. The fluorescent styryl dye FM 1-43 was previously shown to label sensory neurons. Surprisingly, we find that the vast majority of FM 1-43 somatosensory neuron labeling in mice in vivo is dependent on PIEZO2 activity within the peripheral nerve endings. We illustrate the …


A Multidimensional Connectomics- And Radiomics-Based Advanced Machine-Learning Framework To Distinguish Radiation Necrosis From True Progression In Brain Metastases, Yilin Cao, Vishwa S Parekh, Emerson Lee, Xuguang Chen, Kristin J Redmond, Jay J Pillai, Luke Peng, Michael A Jacobs, Lawrence R Kleinberg Aug 2023

A Multidimensional Connectomics- And Radiomics-Based Advanced Machine-Learning Framework To Distinguish Radiation Necrosis From True Progression In Brain Metastases, Yilin Cao, Vishwa S Parekh, Emerson Lee, Xuguang Chen, Kristin J Redmond, Jay J Pillai, Luke Peng, Michael A Jacobs, Lawrence R Kleinberg

Faculty, Staff and Student Publications

We introduce tumor connectomics, a novel MRI-based complex graph theory framework that describes the intricate network of relationships within the tumor and surrounding tissue, and combine this with multiparametric radiomics (mpRad) in a machine-learning approach to distinguish radiation necrosis (RN) from true progression (TP). Pathologically confirmed cases of RN vs. TP in brain metastases treated with SRS were included from a single institution. The region of interest was manually segmented as the single largest diameter of the T1 post-contrast (T1C) lesion plus the corresponding area of T2 FLAIR hyperintensity. There were 40 mpRad features and 6 connectomics features extracted, as …


Oleoylethanolamide Facilitates Pparα And Tfeb Signaling And Attenuates Aβ Pathology In A Mouse Model Of Alzheimer’S Disease, Michele M Comerota, Manasee Gedam, Wen Xiong, Feng Jin, Lisheng Deng, Meng C Wang, Jin Wang, Hui Zheng Aug 2023

Oleoylethanolamide Facilitates Pparα And Tfeb Signaling And Attenuates Aβ Pathology In A Mouse Model Of Alzheimer’S Disease, Michele M Comerota, Manasee Gedam, Wen Xiong, Feng Jin, Lisheng Deng, Meng C Wang, Jin Wang, Hui Zheng

Faculty, Staff and Students Publications

BACKGROUND: Age is the strongest risk factor for the development of Alzheimer's disease (AD). Besides the pathological hallmarks of β-amyloid (Aβ) plaques and neurofibrillary tangles, emerging evidence demonstrates a critical role of microglia and neuroinflammation in AD pathogenesis. Oleoylethanolamide (OEA) is an endogenous lipid amide that has been shown to promote lifespan and healthspan in C. elegans through regulation of lysosome-to-nucleus signaling and cellular metabolism. The goal of our study was to determine the role of OEA in the mediation of microglial activity and AD pathology using its stable analog, KDS-5104.

METHODS: We used primary microglial cultures and genetic and …


Electric Field Navigated 1-Hz Rtms For Poststroke Motor Recovery: The E-Fit Randomized Controlled Trial, Dylan J. Edwards, Charle Y. Liu, Kari Dunning, Felipe Fregni, Jarmo Laine, Benjamin E. Leiby, Lynn M. Rogers, Richard L. Harvey Aug 2023

Electric Field Navigated 1-Hz Rtms For Poststroke Motor Recovery: The E-Fit Randomized Controlled Trial, Dylan J. Edwards, Charle Y. Liu, Kari Dunning, Felipe Fregni, Jarmo Laine, Benjamin E. Leiby, Lynn M. Rogers, Richard L. Harvey

Moss-Magee Rehabilitation Papers

BACKGROUND: To determine if low-frequency repetitive transcranial magnetic stimulation targeting the primary motor cortex contralateral (M1CL) to the affected corticospinal tract in patients with hemiparetic stroke augments intensive training–related clinical improvement; an extension of the NICHE trial (Navigated Inhibitory rTMS to Contralesional Hemisphere Trial) using an alternative sham coil.

METHODS: The present E-FIT trial (Electric Field Navigated 1Hz rTMS for Post-stroke Motor Recovery Trial) included 5 of 12 NICHE trial outpatient US rehabilitation centers. The stimulation protocol remained identical (1 Hz repetitive transcranial magnetic stimulation, M1CL, preceding 60-minute therapy, 18 sessions/6 wks; parallel arm randomized clinical …


In Situ Characterization Of 17-4ph Stainless Steel By Small-Angle Neutron Scattering, Shibo Yan, Zijun Wang, Tianfu Li, Zhong Chen, Xiaoming Du, Yuntao Liu, Dongfeng Chen, Kai Sun, Rongdeng Liu, Bing Bai, Xinfu He, Kaitai Liu, Shuanzhu Wang Aug 2023

In Situ Characterization Of 17-4ph Stainless Steel By Small-Angle Neutron Scattering, Shibo Yan, Zijun Wang, Tianfu Li, Zhong Chen, Xiaoming Du, Yuntao Liu, Dongfeng Chen, Kai Sun, Rongdeng Liu, Bing Bai, Xinfu He, Kaitai Liu, Shuanzhu Wang

Faculty, Staff and Student Publications

17-4PH martensitic steel is usually used as valve stems in nuclear power plants and it suffers from thermal aging embrittlement due to long-time service in a high-temperature and high-pressure environment. Here, we characterized the evolution of microstructures at the nano-scale in 17-4PH steel by in situ small-angle neutron scattering (SANS) with a thermo-mechanically coupled loading device. The device could set different temperatures and tensile so that an in situ SANS experiment could dynamically characterize the process of nanoscale structural changes. The results showed that with increasing thermal aging time, the ε-Cu phase precipitates and grows as the temperature is 475 …


Deep Brain Stimulation For Substance Use Disorder: A Systematic Review And Meta-Analysis, Nour Shaheen, Ahmed Shaheen, Can Sarica, Arun Singh, Mario Zanaty, Karim Johari, Andrew Yang, Theresa Zesiewicz, Brian Dalm, Yarema Bezchlibnyk, Andres M Lozano, Oliver Flouty Aug 2023

Deep Brain Stimulation For Substance Use Disorder: A Systematic Review And Meta-Analysis, Nour Shaheen, Ahmed Shaheen, Can Sarica, Arun Singh, Mario Zanaty, Karim Johari, Andrew Yang, Theresa Zesiewicz, Brian Dalm, Yarema Bezchlibnyk, Andres M Lozano, Oliver Flouty

Department of Neurosurgery Faculty Papers

OBJECTIVE: Substance use disorder (SUD) is a significant public health issue with a high mortality rate. Deep brain stimulation (DBS) has shown promising results in treating SUD in certain cases. In this study, we conducted a meta-analysis to evaluate the efficacy of DBS in the treatment of SUD and reduction of relapse rates.

METHODS: We performed a thorough and methodical search of the existing scientific literature, adhering to the PRISMA guidelines, to identify 16 original studies that fulfilled our inclusion criteria. We used the evidence levels recommended by the Oxford Centre for Evidence-Based Medicine to assess bias. The R version …


Somatic Cell Structural Variant Mutagenesis And Neurologic Disease, James R Lupski Aug 2023

Somatic Cell Structural Variant Mutagenesis And Neurologic Disease, James R Lupski

Faculty, Staff and Students Publications

Detection of organismal mosaic states for variant alleles faces technical and analytical challenges, as does the association of such variant alleles with susceptibility to neurologic disease. In this issue of Cell Genomics, Maury et al.1 reanalyze genotyping arrays of a schizophrenia cohort providing evidence for the contribution of somatic structural variant mutagenesis and rare variant alleles.


Implementation And Assessment Of A Laparotomy-Assisted Three-Port Fetoscopic Spina Bifida Repair Program, Corinna Keil, Siegmund Köhler, Benjamin Sass, Maximilian Schulze, Gerald Kalmus, Michael Belfort, Nicolas Schmitt, Daniele Diehl, Alice King, Stefanie Groß, Caitlin D Sutton, Luc Joyeux, Mirjam Wege, Christopher Nimsky, Wiliam E Whitehead, Eberhard Uhl, Thierry A G M Huisman, Bernd A Neubauer, Stefanie Weber, Helmut Hummler, Roland Axt-Fliedner, Ivonne Bedei Aug 2023

Implementation And Assessment Of A Laparotomy-Assisted Three-Port Fetoscopic Spina Bifida Repair Program, Corinna Keil, Siegmund Köhler, Benjamin Sass, Maximilian Schulze, Gerald Kalmus, Michael Belfort, Nicolas Schmitt, Daniele Diehl, Alice King, Stefanie Groß, Caitlin D Sutton, Luc Joyeux, Mirjam Wege, Christopher Nimsky, Wiliam E Whitehead, Eberhard Uhl, Thierry A G M Huisman, Bernd A Neubauer, Stefanie Weber, Helmut Hummler, Roland Axt-Fliedner, Ivonne Bedei

Faculty, Staff and Students Publications

Open spina bifida (OSB) is a congenital, non-lethal malformation with multifactorial etiology. Fetal therapy can be offered under certain conditions to parents after accurate prenatal diagnostic and interdisciplinary counseling. Since the advent of prenatal OSB surgery, various modifications of the original surgical techniques have evolved, including laparotomy-assisted fetoscopic repair. After a two-year preparation time, the team at the University of Giessen and Marburg (UKGM) became the first center to provide a three-port, three-layer fetoscopic repair of OSB via a laparotomy-assisted approach in the German-speaking area. We point out that under the guidance of experienced centers and by intensive multidisciplinary preparation …


A Biologic-Device Combination Product Delivering Tumor-Derived Antigens Elicits Immunogenic Cell Death-Associated Immune Responses Against Glioblastoma, Christopher Cultrara, Christopher Uhl, Kenneth Kirby, Essam Abed Elrazaq, Amelia Zellander, David W. Andrews, Charles B. Scott, Lorenzo Galluzzi, Mark A. Exley, Jenny Zilberberg Aug 2023

A Biologic-Device Combination Product Delivering Tumor-Derived Antigens Elicits Immunogenic Cell Death-Associated Immune Responses Against Glioblastoma, Christopher Cultrara, Christopher Uhl, Kenneth Kirby, Essam Abed Elrazaq, Amelia Zellander, David W. Andrews, Charles B. Scott, Lorenzo Galluzzi, Mark A. Exley, Jenny Zilberberg

Department of Neurosurgery Faculty Papers

Background IGV-001 is a personalized, autologous cancer cell-based immunotherapy conceived to deliver a tumor-derived antigenic payload in the context of immunostimulatory signals to patients with glioblastoma (GBM). IGV-001 consists of patient-derived GBM cells treated with an antisense oligodeoxynucleotide against insulin-like growth factor 1 receptor (IGF1R) and placed in proprietary biodiffusion chambers (BDCs). The BDCs are then exposed to 5–6 Gy radiation and implanted at abdominal sites for ~48 hours. IGV-001 has previously been shown to be generally safe with promising clinical activity in newly diagnosed GBM patients.

Methods Mouse (m) or human (h) variants of IGV-001 …


An Ontology-Based Approach For Harmonization And Cross-Cohort Query Of Alzheimer’S Disease Data Resources, Xubing Hao, Xiaojin Li, Guo-Qiang Zhang, Cui Tao, Paul E Schulz, Licong Cui Aug 2023

An Ontology-Based Approach For Harmonization And Cross-Cohort Query Of Alzheimer’S Disease Data Resources, Xubing Hao, Xiaojin Li, Guo-Qiang Zhang, Cui Tao, Paul E Schulz, Licong Cui

Faculty, Staff and Student Publications

BACKGROUND: In the United States, the National Alzheimer's Coordinating Center (NACC) and the Alzheimer's Disease Neuroimaging Initiative (ADNI) are two major data sharing resources for Alzheimer's Disease (AD) research. NACC and ADNI strive to make their data more FAIR (findable, interoperable, accessible and reusable) for the broader research community. However, there is limited work harmonizing and supporting cross-cohort interoperability of the two resources.

METHOD: In this paper, we leverage an ontology-based approach to harmonize data elements in the two resources and develop a web-based query system to search patient cohorts across the two resources. We first mapped data elements across …


Piezo2 In Somatosensory Neurons Controls Gastrointestinal Transit, M Rocio Servin-Vences, Ruby M Lam, Alize Koolen, Yu Wang, Dimah N Saade, Meaghan Loud, Halil Kacmaz, Suzanne Frausto, Yunxiao Zhang, Arthur Beyder, Kara L Marshall, Carsten G Bönnemann, Alexander T Chesler, Ardem Patapoutian Aug 2023

Piezo2 In Somatosensory Neurons Controls Gastrointestinal Transit, M Rocio Servin-Vences, Ruby M Lam, Alize Koolen, Yu Wang, Dimah N Saade, Meaghan Loud, Halil Kacmaz, Suzanne Frausto, Yunxiao Zhang, Arthur Beyder, Kara L Marshall, Carsten G Bönnemann, Alexander T Chesler, Ardem Patapoutian

Duncan NRI Faculty and Staff Publications

The gastrointestinal tract is in a state of constant motion. These movements are tightly regulated by the presence of food and help digestion by mechanically breaking down and propelling gut content. Mechanical sensing in the gut is thought to be essential for regulating motility; however, the identity of the neuronal populations, the molecules involved, and the functional consequences of this sensation are unknown. Here, we show that humans lacking PIEZO2 exhibit impaired bowel sensation and motility. Piezo2 in mouse dorsal root, but not nodose ganglia is required to sense gut content, and this activity slows down food transit rates in …


Monoallelic Variation In Dhx9, The Gene Encoding The Dexh-Box Helicase Dhx9, Underlies Neurodevelopment Disorders And Charcot-Marie-Tooth Disease, Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V Hunter, Amanda Gerard, Alexis Heidlebaugh, Thomas Challman, Rebecca C Spillmann, Shalini N Jhangiani, Zeynep Coban-Akdemir, Seema Lalani, Lingxiao Liu, Anya Revah-Politi, Alejandro Iglesias, Edwin Guzman, Evan Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K G Tan, Isabelle Thiffault, Tomi Pastinen, Kazim Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan-Petersen, Undiagnosed Diseases Network, Francisca Millan, Teresa Santiago-Sim, Julien Thevenon, Ange-Line Bruel, Christel Thauvin-Robinet, Denny Popp, Konrad Platzer, Pawel Gawlinski, Wojciech Wiszniewski, Dana Marafi, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Valerie Gailus-Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě De Angelis, Sabine M Hölter, Hoi-Hung Cheung, Shen Gu, James R Lupski Aug 2023

Monoallelic Variation In Dhx9, The Gene Encoding The Dexh-Box Helicase Dhx9, Underlies Neurodevelopment Disorders And Charcot-Marie-Tooth Disease, Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V Hunter, Amanda Gerard, Alexis Heidlebaugh, Thomas Challman, Rebecca C Spillmann, Shalini N Jhangiani, Zeynep Coban-Akdemir, Seema Lalani, Lingxiao Liu, Anya Revah-Politi, Alejandro Iglesias, Edwin Guzman, Evan Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K G Tan, Isabelle Thiffault, Tomi Pastinen, Kazim Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan-Petersen, Undiagnosed Diseases Network, Francisca Millan, Teresa Santiago-Sim, Julien Thevenon, Ange-Line Bruel, Christel Thauvin-Robinet, Denny Popp, Konrad Platzer, Pawel Gawlinski, Wojciech Wiszniewski, Dana Marafi, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Valerie Gailus-Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě De Angelis, Sabine M Hölter, Hoi-Hung Cheung, Shen Gu, James R Lupski

Faculty, Staff and Student Publications

DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear helicase regulating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains unassociated with disease traits in OMIM. Using exome sequencing and family-based rare-variant analyses, we identified 20 individuals with de novo, ultra-rare, heterozygous missense or loss-of-function (LoF) DHX9 variant alleles. Phenotypes ranged from NDDs to the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2). Quantitative Human Phenotype Ontology (HPO) …


Novel Murine Glioblastoma Models That Reflect The Immunotherapy Resistance Profile Of A Human Disease, Chao-Hsien Chen, Renee L Chin, Genevieve P Hartley, Spencer T Lea, Brian J Engel, Cheng-En Hsieh, Rishika Prasad, Jason Roszik, Takashi Shingu, Gregory A Lizee, Amy B Heimberger, Steven W Millward, Jian Hu, David S Hong, Michael A Curran Aug 2023

Novel Murine Glioblastoma Models That Reflect The Immunotherapy Resistance Profile Of A Human Disease, Chao-Hsien Chen, Renee L Chin, Genevieve P Hartley, Spencer T Lea, Brian J Engel, Cheng-En Hsieh, Rishika Prasad, Jason Roszik, Takashi Shingu, Gregory A Lizee, Amy B Heimberger, Steven W Millward, Jian Hu, David S Hong, Michael A Curran

Faculty, Staff and Student Publications

BACKGROUND: The lack of murine glioblastoma models that mimic the immunobiology of human disease has impeded basic and translational immunology research. We, therefore, developed murine glioblastoma stem cell lines derived from Nestin-CreERT2QkL/L; Trp53L/L; PtenL/L (QPP) mice driven by clinically relevant genetic mutations common in human glioblastoma. This study aims to determine the immune sensitivities of these QPP lines in immunocompetent hosts and their underlying mechanisms.

METHODS: The differential responsiveness of QPP lines was assessed in the brain and flank in untreated, anti-PD-1, or anti-CTLA-4 treated mice. The impact of genomic landscape on the responsiveness of each tumor was measured through …


Ot's Role In Facilitating Successful Role Transition For Informal Caregivers Of People Living With Dementia, Kiyatta Freeman, Monica Watford, Evyline Chioma Aug 2023

Ot's Role In Facilitating Successful Role Transition For Informal Caregivers Of People Living With Dementia, Kiyatta Freeman, Monica Watford, Evyline Chioma

Summer 2023 Virtual OTD Capstone Symposium

The aim of this capstone project was to identify education and training needs for family caregivers of individuals living with dementia and create an educational workshop based on these identified needs. This workshop is a dementia training course focused on education on the dementia diagnosis and effective care strategies to promote occupational participation and safety for the care recipient and the caregiver. The aim is to improve care competency, reduce stress, and facilitate role transition.


The Importance Of Addressing Sleep As An Occupation Within Assisted Living Communities, Brittany Kiattitananan, Kendra Orcutt, Lisa Griggs-Stapleton Aug 2023

The Importance Of Addressing Sleep As An Occupation Within Assisted Living Communities, Brittany Kiattitananan, Kendra Orcutt, Lisa Griggs-Stapleton

Summer 2023 Virtual OTD Capstone Symposium

Around 40-70% of older adults have difficulty sleeping (Sheth & Thomas, 2019). This poster presents an occupation-based sleep intervention program developed for residents of an assisted living community and serves to inform OT practitioners on addressing sleep in their own practice.


Persistence To Anti-Cgrp Monoclonal Antibodies And Onabotulinumtoxina Among Patients With Migraine: A Retrospective Cohort Study, Larry Charleston, Brian Talon, Christine Sullivan, Carlton Anderson, Steven Kymes, Stephane A. Regnier, Seema Soni-Brahmbhatt, Stephanie J. Nahas Aug 2023

Persistence To Anti-Cgrp Monoclonal Antibodies And Onabotulinumtoxina Among Patients With Migraine: A Retrospective Cohort Study, Larry Charleston, Brian Talon, Christine Sullivan, Carlton Anderson, Steven Kymes, Stephane A. Regnier, Seema Soni-Brahmbhatt, Stephanie J. Nahas

Department of Jefferson Headache Center Papers and Presentations

BACKGROUND: To date, real-world evidence on persistence to anti-calcitonin gene-related peptide (anti-CGRP) monoclonal antibodies (mAbs) or onabotulinumtoxinA have excluded eptinezumab. This retrospective cohort study was performed to compare treatment persistency among patients with migraine on anti-CGRP mAbs (erenumab, fremanezumab, galcanezumab, or eptinezumab) or onabotulinumtoxinA.

METHODS: This retrospective study used IQVIA PharmMetrics data. Adult patients with migraine treated with an anti-CGRP mAb or onabotulinumtoxinA who had 12 months of continuous insurance enrollment before starting treatment were included. A "most recent treatment episode" analysis was used in which the most recent episode was defined as the latest treatment period with the same …


Implementation Of Tai Chi Among Individuals With Dementia In Long-Term Memory Care, Patricia I. Cordova, Lisa Griggs-Stapleton, Kim Broussard Aug 2023

Implementation Of Tai Chi Among Individuals With Dementia In Long-Term Memory Care, Patricia I. Cordova, Lisa Griggs-Stapleton, Kim Broussard

Summer 2023 Virtual OTD Capstone Symposium

This project focused on a dementia population within long-term care, where increased disablement occurs. A Tai Chi program was implemented into the daily routine of individuals in a long-term memory care facility to improve dynamic sitting balance for the performance of daily occupations.


Encephalitis In Hiv-Infected Adults In The Antiretroviral Therapy Era, Melissa Reimer-Mcatee, Denisse Ramirez, Casey Mcatee, Alejandro Granillo, Rodrigo Hasbun Aug 2023

Encephalitis In Hiv-Infected Adults In The Antiretroviral Therapy Era, Melissa Reimer-Mcatee, Denisse Ramirez, Casey Mcatee, Alejandro Granillo, Rodrigo Hasbun

Faculty, Staff and Student Publications

Introduction: Encephalitis presents with high morbidity and mortality in both HIV-infected and HIV-negative patients. There are currently no studies comparing HIV-infected and HIV-negative patients admitted to the hospital with acute encephalitis.

Methods: We conducted a multicenter, retrospective study of adults admitted to the hospital with a diagnosis of encephalitis in Houston, Texas between 2005 and 2020. We describe the clinical manifestations, etiology, and outcomes of these patients with a focus on those infected with HIV.

Results: We identified 260 patients with encephalitis, 40 of whom were infected with HIV. Viral etiology was identified in 18 of the 40 HIV-infected patients …


Polygenicity Of Comorbid Depression In Multiple Sclerosis, Kaarina Kowalec, Kathryn C Fitzgerald, Amber Salter, Casandra Dolovich, Arvid Harder, Charles N Bernstein, James Bolton, Gary R Cutter, Lesley A Graff, Sara Hägg, Carol A Hitchon, Yi Lu, Fred Lublin, Kyla A Mckay, Scott B Patten, Amit Patki, Hemant K Tiwari, Jerry S Wolinsky, Ruth Ann Marrie Aug 2023

Polygenicity Of Comorbid Depression In Multiple Sclerosis, Kaarina Kowalec, Kathryn C Fitzgerald, Amber Salter, Casandra Dolovich, Arvid Harder, Charles N Bernstein, James Bolton, Gary R Cutter, Lesley A Graff, Sara Hägg, Carol A Hitchon, Yi Lu, Fred Lublin, Kyla A Mckay, Scott B Patten, Amit Patki, Hemant K Tiwari, Jerry S Wolinsky, Ruth Ann Marrie

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVES: Depression is common in multiple sclerosis (MS) and is associated with faster disability progression. The etiology of comorbid depression in MS remains poorly understood. Identification of individuals with a high risk of depression, through polygenic scores (PGS), may facilitate earlier identification. Previous genetic studies of depression considered depression as a primary disorder, not a comorbidity, and thus, findings may not generalize to MS. Body mass index (BMI) is a risk factor of both MS and depression, and its association may highlight differences in depression in MS. To improve the understanding of comorbid depression in MS, we will …


Eosinophils Promote Effector Functions Of Lung Group 2 Innate Lymphoid Cells In Allergic Airway Inflammation In Mice, William E Lesuer, Melanie Kienzl, Sergei I Ochkur, Rudolf Schicho, Alfred D Doyle, Benjamin L Wright, Matthew A Rank, Alexander S Krupnick, Hirohito Kita, Elizabeth A Jacobsen Aug 2023

Eosinophils Promote Effector Functions Of Lung Group 2 Innate Lymphoid Cells In Allergic Airway Inflammation In Mice, William E Lesuer, Melanie Kienzl, Sergei I Ochkur, Rudolf Schicho, Alfred D Doyle, Benjamin L Wright, Matthew A Rank, Alexander S Krupnick, Hirohito Kita, Elizabeth A Jacobsen

Faculty, Staff and Student Publications

BACKGROUND: Group 2 innate lymphoid cells (ILC2s) are critical mediators of type 2 respiratory inflammation, releasing IL-5 and IL-13 and promoting the pulmonary eosinophilia associated with allergen provocation. Although ILC2s have been shown to promote eosinophil activities, the role of eosinophils in group 2 innate lymphoid cell (ILC2) responses is less well defined.

OBJECTIVE: We sought to investigate the role of eosinophils in activation of ILC2s in models of allergic asthma and in vitro.

METHODS: Inducible eosinophil-deficient mice were exposed to allergic respiratory inflammation models of asthma, such as ovalbumin or house dust mite challenge, or to innate models of …


Dissemination Of Class A Cephalosporinases And Class D Carbapenemases In Escherichia Coli Isolates From A Tertiary Hospital In Sudan, Khalid E Khalid Aug 2023

Dissemination Of Class A Cephalosporinases And Class D Carbapenemases In Escherichia Coli Isolates From A Tertiary Hospital In Sudan, Khalid E Khalid

Faculty, Staff and Student Publications

Introduction

The high prevalence of urinary tract infections (UTIs) and rising resistance to beta-lactam antibiotics, which is a global therapeutic concern, are caused by Escherichia coli (E. coli) extended-spectrum beta-lactamases (ESBLs) producers. It is unclear how E. coli that produces ESBLs spreads throughout Gezira state, Sudan. The study aimed to evaluate the dissemination of class A and class D resistance genes among E. coli and to recognize the antibacterial activity of the locally used cephalosporins and carbapenems.

Methods

One hundred and fifteen isolates of uropathogenic E. coli were collected from patients who attended a tertiary hospital. The isolates …


The Sandwich Generation Of Aging Parents With Dementia: An Occupation-Based Caregiver Program, Gabrielle Amaya, Lisa Griggs-Stapleton, Kylee Hall Aug 2023

The Sandwich Generation Of Aging Parents With Dementia: An Occupation-Based Caregiver Program, Gabrielle Amaya, Lisa Griggs-Stapleton, Kylee Hall

Summer 2023 Virtual OTD Capstone Symposium

Despite the high prevalence of caregiver burnout, caregivers’ needs are unrecognized because the focus is on caregiver quality of life, experience, or service utilization (Frankenstein & Jahn, 2020). This program aims to identify ways to provide specific support to promote caregiver ADL participation through the use of a web-based training and education program.