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Articles 931 - 960 of 5928
Full-Text Articles in Medical Specialties
Microglia In Post-Mortem Hippocampal Brain Tissue Of Male And Female Neonates After Hie, Kassandra M. Pulido, Angela N. Viaene, Amelia J. Eisch, Danielle G. Barber
Microglia In Post-Mortem Hippocampal Brain Tissue Of Male And Female Neonates After Hie, Kassandra M. Pulido, Angela N. Viaene, Amelia J. Eisch, Danielle G. Barber
Research Colloquium
Background: Hypoxic-ischemic encephalopathy (HIE) is the second-leading cause of neonatal morbidity and mortality worldwide. There are sex differences in the pathophysiology of HIE, particularly in microglia, which are critical in the immune response. Prior work highlights microglial aggregation in the hippocampus of human infants as a marker for HIE, but it is unknown whether this differs by sex.
Aim: We compare the microglial response in post-mortem hippocampal tissue from male and female neonates diagnosed with HIE vs. Controls who expired from other causes.
Methods: Using a retrospective cohort design, we reviewed medical records of neonates with hippocampal tissue in the …
Pre-Hospital Stroke Time Intervals In The Rio Grande Valley, Kelsey Baker, Elio E. Garcia Sosa
Pre-Hospital Stroke Time Intervals In The Rio Grande Valley, Kelsey Baker, Elio E. Garcia Sosa
Research Colloquium
Background and Introduction: Stroke continues to be a significant cause of mortality in the United States. Despite advancements in acute stroke treatments such as thrombolytic therapy and endovascular procedures, many patients remain unable to benefit from these interventions due to delays in receiving treatment. Healthcare professionals have made substantial efforts to improve 'door to needle' times, the interval between a patient's arrival at the hospital and the administration of thrombolytic therapy, yielding promising outcomes. However, a critical gap persists: the time interval from the onset of stroke symptoms to when patients actually present at a healthcare facility. This study aims …
Unveiling The Neurological Aftermath: Pres After Cardiac Arrest, Oyinlola O. Fasehun, Jessica Daza, Sriharsha Koneru, Victor Tran, Eunbee Cho, Fatimah Bello
Unveiling The Neurological Aftermath: Pres After Cardiac Arrest, Oyinlola O. Fasehun, Jessica Daza, Sriharsha Koneru, Victor Tran, Eunbee Cho, Fatimah Bello
Research Colloquium
Background: Posterior Reversible Encephalopathy Syndrome (PRES), also known as ‘Reversible Posterior Leukoencephalopathy Syndrome (RPLS)’, is a clinical radiographic syndrome originally described by Hinchey et al in 1996. PRES has been significantly underdiagnosed due to difficulty in confirmation. As such, there is currently no epidemiological data regarding its incidence, but it has been diagnosed in all age groups with a preponderance in females. A variety of medical conditions have been implicated as causes of PRES, including severe hypertension, immunosuppressive therapy, sepsis, renal diseases and autoimmune disorders. The mechanism of PRES is thought to be related to disordered cerebral autoregulation and endothelial …
1-Year Outcomes Of Resolute Onyx Zotarolimus-Eluting Stent For Symptomatic Intracranial Atherosclerotic Disease: A Multicenter Propensity Score-Matched Comparison With Stenting Versus Aggressive Medical Management For Preventing Recurrent Stroke In Intracranial Stenosis Trial, Saisree Ravi, Ibrahim A Bhatti, Ravi S Nunna, Syed Khalid, Wondwossen G Tekle, Omar Tanweer, Jan-Karl Burkhardt, Pascal M Jabbour, Stavropoula I Tjoumakaris, Nabeel A Herial, Adnan H Siddiqui, Ramesh Grandhi, Adnan I Qureshi, Farhan Siddiq, Ameer E Hassan
1-Year Outcomes Of Resolute Onyx Zotarolimus-Eluting Stent For Symptomatic Intracranial Atherosclerotic Disease: A Multicenter Propensity Score-Matched Comparison With Stenting Versus Aggressive Medical Management For Preventing Recurrent Stroke In Intracranial Stenosis Trial, Saisree Ravi, Ibrahim A Bhatti, Ravi S Nunna, Syed Khalid, Wondwossen G Tekle, Omar Tanweer, Jan-Karl Burkhardt, Pascal M Jabbour, Stavropoula I Tjoumakaris, Nabeel A Herial, Adnan H Siddiqui, Ramesh Grandhi, Adnan I Qureshi, Farhan Siddiq, Ameer E Hassan
Faculty, Staff and Students Publications
BACKGROUND: Intracranial atherosclerotic disease (ICAD) is one of the most prevalent causes of stroke across the world. Endovascular treatment has gained prominence but remains a challenge with unfavorable results. Recent literature has demonstrated that the Resolute Onyx Zotarolimus-Eluting Stent (RO-ZES) is a technically safe option with low complication rates along with 30-day outcomes associated with intracranial stent placement for ICAD with RO-ZES compared to results from the Stenting Versus Aggressive Medical Management for Preventing Recurrent Stroke in Intracranial Stenosis (SAMMPRIS) trial. Here, we aim to compare outcomes at one year with the SAMMPRIS trial with a multicenter longitudinal study.
MATERIALS …
Mouse Monocytes Express Cd127 By Immune Cells, Not Lps, Reza Yazdani, Mozhde Askari, Amir Moghadam-Ahmadi, Gholamreza Azizi, Bogoljub Ciric, Alexandra Boehm, Guang-Xian Zhang, Mohamad Rostami
Mouse Monocytes Express Cd127 By Immune Cells, Not Lps, Reza Yazdani, Mozhde Askari, Amir Moghadam-Ahmadi, Gholamreza Azizi, Bogoljub Ciric, Alexandra Boehm, Guang-Xian Zhang, Mohamad Rostami
Department of Neurology Faculty Papers
The essential role of interleukin 7 (IL-7) signaling via its receptor (IL-7Rα; CD127) in T cell development and function has been well documented. However, CD127 expression and function in myeloid cells, including monocytes, are less clear, especially in mice. In the present study we report an inducible CD127 expression in mouse monocytes/macrophages. This induction is dependent on the presence of other immune cells, highlighting that regulation of CD127 expression on monocytes differs in mice and humans. We demonstrate that CD127 is functional, as IL-7 downregulated its expression. We also saw decreased CD127 expression during inflammation in vivo. Overall, upregulation …
The Effect Of Intravenous Thrombolysis In Stroke Patients With Unsuccessful Thrombectomy, Sameh Samir Elawady, Rahim Abo Kasem, Hidetoshi Matsukawa, Conor Cunningham, Mohamed Mahdi Sowlat, Noah Lee Nawabi, Atakan Orscelik, Joshua M Venegas, Julio Isidor, Hasna Loulida, Ilko Maier, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M Starke, Marios-Nikos Psychogios, Edgar A Samaniego, Nitin Goyal, Shinichi Yoshimura, Hugo Cuellar, Brian Howard, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Ramesh Grandhi, Roberto Crosa, Charles Matouk, Min S Park, Michael R Levitt, Waleed Brinjikji, Mark Moss, Ergun Daglioglu, Richard Williamson, Pedro Navia, Peter Kan, Reade De Leacy, Shakeel Chowdhry, David J Altschul, Alejandro M Spiotta, Sami Al Kasab
The Effect Of Intravenous Thrombolysis In Stroke Patients With Unsuccessful Thrombectomy, Sameh Samir Elawady, Rahim Abo Kasem, Hidetoshi Matsukawa, Conor Cunningham, Mohamed Mahdi Sowlat, Noah Lee Nawabi, Atakan Orscelik, Joshua M Venegas, Julio Isidor, Hasna Loulida, Ilko Maier, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M Starke, Marios-Nikos Psychogios, Edgar A Samaniego, Nitin Goyal, Shinichi Yoshimura, Hugo Cuellar, Brian Howard, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Ramesh Grandhi, Roberto Crosa, Charles Matouk, Min S Park, Michael R Levitt, Waleed Brinjikji, Mark Moss, Ergun Daglioglu, Richard Williamson, Pedro Navia, Peter Kan, Reade De Leacy, Shakeel Chowdhry, David J Altschul, Alejandro M Spiotta, Sami Al Kasab
Faculty, Staff and Students Publications
BACKGROUND: The benefit of intravenous thrombolysis (IVT) is well established. We aim to study the benefits of IVT in acute ischemic stroke (AIS) patients with large vessel occlusion (LVO) who underwent unsuccessful mechanical thrombectomy (MT).
METHODS: We included AIS patients who underwent MT for anterior circulation LVO with failed recanalization (modified treatment in cerebral ischemia [mTICI] score ≤ 2A). Patients who received IVT prior to MT were compared to those who received MT alone. Propensity score matching using demographic, clinical, radiographic and procedural variables was used to match patients with and without IVT. The primary outcome was favorable 90-day good …
Long-Term Dementia Risk In Parkinson Disease, Julia Gallagher, Caroline Gochanour, Chelsea Caspell-Garcia, Roseanne D Dobkin, Dag Aarsland, Roy N Alcalay, Matthew J Barrett, Lana Chahine, Alice S Chen-Plotkin, Christopher S Coffey, Nabila Dahodwala, Jamie L Eberling, Alberto J Espay, James B Leverenz, Irene Litvan, Eugenia Mamikonyan, James Morley, Irene H Richard, Liana Rosenthal, Andrew D Siderowf, Tatyana Simuni, Michele K York, Allison W Willis, Sharon X Xie, Daniel Weintraub, Parkinson's Progression Markers Initiative
Long-Term Dementia Risk In Parkinson Disease, Julia Gallagher, Caroline Gochanour, Chelsea Caspell-Garcia, Roseanne D Dobkin, Dag Aarsland, Roy N Alcalay, Matthew J Barrett, Lana Chahine, Alice S Chen-Plotkin, Christopher S Coffey, Nabila Dahodwala, Jamie L Eberling, Alberto J Espay, James B Leverenz, Irene Litvan, Eugenia Mamikonyan, James Morley, Irene H Richard, Liana Rosenthal, Andrew D Siderowf, Tatyana Simuni, Michele K York, Allison W Willis, Sharon X Xie, Daniel Weintraub, Parkinson's Progression Markers Initiative
Faculty, Staff and Students Publications
BACKGROUND AND OBJECTIVES: It is widely cited that dementia occurs in up to 80% of patients with Parkinson disease (PD), but studies reporting such high rates were published over two decades ago, had relatively small samples, and had other limitations. We aimed to determine long-term dementia risk in PD using data from two large, ongoing, prospective, observational studies.
METHODS: Participants from the Parkinson's Progression Markers Initiative (PPMI), a multisite international study, and a long-standing PD research cohort at the University of Pennsylvania (Penn), a single site study at a tertiary movement disorders center, were recruited. PPMI enrolled de novo, untreated …
Genome-Wide Association Study Meta-Analysis Of Neurofilament Light (Nfl) Levels In Blood Reveals Novel Loci Related To Neurodegeneration, Shahzad Ahmad, Mohammad Aslam Imtiaz, Aniket Mishra, Ruiqi Wang, Marisol Herrera-Rivero, Joshua C Bis, Myriam Fornage, Gennady Roshchupkin, Edith Hofer, Mark Logue, W T Longstreth, Rui Xia, Vincent Bouteloup, Thomas Mosley, Lenore J Launer, Michael Khalil, Jens Kuhle, Robert A Rissman, Genevieve Chene, Carole Dufouil, Luc Djoussé, Michael J Lyons, Kenneth J Mukamal, William S Kremen, Carol E Franz, Reinhold Schmidt, Stephanie Debette, Monique M B Breteler, Klaus Berger, Qiong Yang, Sudha Seshadri, N Ahmad Aziz, Mohsen Ghanbari, M Arfan Ikram
Genome-Wide Association Study Meta-Analysis Of Neurofilament Light (Nfl) Levels In Blood Reveals Novel Loci Related To Neurodegeneration, Shahzad Ahmad, Mohammad Aslam Imtiaz, Aniket Mishra, Ruiqi Wang, Marisol Herrera-Rivero, Joshua C Bis, Myriam Fornage, Gennady Roshchupkin, Edith Hofer, Mark Logue, W T Longstreth, Rui Xia, Vincent Bouteloup, Thomas Mosley, Lenore J Launer, Michael Khalil, Jens Kuhle, Robert A Rissman, Genevieve Chene, Carole Dufouil, Luc Djoussé, Michael J Lyons, Kenneth J Mukamal, William S Kremen, Carol E Franz, Reinhold Schmidt, Stephanie Debette, Monique M B Breteler, Klaus Berger, Qiong Yang, Sudha Seshadri, N Ahmad Aziz, Mohsen Ghanbari, M Arfan Ikram
Faculty, Staff and Student Publications
Neurofilament light chain (NfL) levels in circulation have been established as a sensitive biomarker of neuro-axonal damage across a range of neurodegenerative disorders. Elucidation of the genetic architecture of blood NfL levels could provide new insights into molecular mechanisms underlying neurodegenerative disorders. In this meta-analysis of genome-wide association studies (GWAS) of blood NfL levels from eleven cohorts of European ancestry, we identify two genome-wide significant loci at 16p12 (UMOD) and 17q24 (SLC39A11). We observe association of three loci at 1q43 (FMN2), 12q14, and 12q21 with blood NfL levels in the meta-analysis of African-American ancestry. In the trans-ethnic meta-analysis, we identify …
Tulips Decorate The Three-Dimensional Genome Of Pfa Ependymoma, Michael J Johnston, John J Y Lee, Bo Hu, Ana Nikolic, Elham Hasheminasabgorji, Audrey Baguette, Seungil Paik, Haifen Chen, Sachin Kumar, Carol C L Chen, Selin Jessa, Polina Balin, Vernon Fong, Melissa Zwaig, Kulandaimanuvel Antony Michealraj, Xun Chen, Yanlin Zhang, Srinidhi Varadharajan, Pierre Billon, Nikoleta Juretic, Craig Daniels, Amulya Nageswara Rao, Caterina Giannini, Eric M Thompson, Miklos Garami, Peter Hauser, Timea Pocza, Young Shin Ra, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji Yeoun Lee, Wieslawa Grajkowska, Marta Perek-Polnik, Sameer Agnihotri, Stephen Mack, Benjamin Ellezam, Alex Weil, Jeremy Rich, Guillaume Bourque, Jennifer A Chan, V Wee Yong, Mathieu Lupien, Jiannis Ragoussis, Claudia Kleinman, Jacek Majewski, Mathieu Blanchette, Nada Jabado, Michael D Taylor, Marco Gallo
Tulips Decorate The Three-Dimensional Genome Of Pfa Ependymoma, Michael J Johnston, John J Y Lee, Bo Hu, Ana Nikolic, Elham Hasheminasabgorji, Audrey Baguette, Seungil Paik, Haifen Chen, Sachin Kumar, Carol C L Chen, Selin Jessa, Polina Balin, Vernon Fong, Melissa Zwaig, Kulandaimanuvel Antony Michealraj, Xun Chen, Yanlin Zhang, Srinidhi Varadharajan, Pierre Billon, Nikoleta Juretic, Craig Daniels, Amulya Nageswara Rao, Caterina Giannini, Eric M Thompson, Miklos Garami, Peter Hauser, Timea Pocza, Young Shin Ra, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji Yeoun Lee, Wieslawa Grajkowska, Marta Perek-Polnik, Sameer Agnihotri, Stephen Mack, Benjamin Ellezam, Alex Weil, Jeremy Rich, Guillaume Bourque, Jennifer A Chan, V Wee Yong, Mathieu Lupien, Jiannis Ragoussis, Claudia Kleinman, Jacek Majewski, Mathieu Blanchette, Nada Jabado, Michael D Taylor, Marco Gallo
Faculty, Staff and Students Publications
Posterior fossa group A (PFA) ependymoma is a lethal brain cancer diagnosed in infants and young children. The lack of driver events in the PFA linear genome led us to search its 3D genome for characteristic features. Here, we reconstructed 3D genomes from diverse childhood tumor types and uncovered a global topology in PFA that is highly reminiscent of stem and progenitor cells in a variety of human tissues. A remarkable feature exclusively present in PFA are type B ultra long-range interactions in PFAs (TULIPs), regions separated by great distances along the linear genome that interact with each other in …
Targeting Igf2 To Reprogram The Tumor Microenvironment For Enhanced Viro-Immunotherapy, Min Hye Noh, Jin Muk Kang, Alexandra A Miller, Grace Nguyen, Minxin Huang, Ji Seon Shim, Alberto J Bueso-Perez, Sara A Murphy, Kimberly A Rivera-Caraballo, Yoshihiro Otani, Eunju Kim, Seung-Hee Yoo, Yuanqing Yan, Yeshavanth Banasavadi-Siddegowda, Hiroshi Nakashima, E Antonio Chiocca, Balveen Kaur, Zhongming Zhao, Tae Jin Lee, Ji Young Yoo
Targeting Igf2 To Reprogram The Tumor Microenvironment For Enhanced Viro-Immunotherapy, Min Hye Noh, Jin Muk Kang, Alexandra A Miller, Grace Nguyen, Minxin Huang, Ji Seon Shim, Alberto J Bueso-Perez, Sara A Murphy, Kimberly A Rivera-Caraballo, Yoshihiro Otani, Eunju Kim, Seung-Hee Yoo, Yuanqing Yan, Yeshavanth Banasavadi-Siddegowda, Hiroshi Nakashima, E Antonio Chiocca, Balveen Kaur, Zhongming Zhao, Tae Jin Lee, Ji Young Yoo
Faculty, Staff and Student Publications
BACKGROUND: The FDA approval of oncolytic herpes simplex-1 virus (oHSV) therapy underscores its therapeutic promise and safety as a cancer immunotherapy. Despite this promise, the current efficacy of oHSV is significantly limited to a small subset of patients largely due to the resistance in tumor and tumor microenvironment (TME).
METHODS: RNA sequencing (RNA-Seq) was used to identify molecular targets of oHSV resistance. Intracranial human and murine glioma or breast cancer brain metastasis (BCBM) tumor-bearing mouse models were employed to elucidate the mechanism underlying oHSV therapy-induced resistance.
RESULTS: Transcriptome analysis identified IGF2 as one of the top-secreted proteins following oHSV treatment. …
Prospects And Challenges Of Tissue-Derived Extracellular Vesicles, Justin C Lee, Roslyn M Ray, Tristan A Scott
Prospects And Challenges Of Tissue-Derived Extracellular Vesicles, Justin C Lee, Roslyn M Ray, Tristan A Scott
Faculty, Staff and Students Publications
Extracellular vesicles (EVs) are considered a vital component of cell-to-cell communication and represent a new frontier in diagnostics and a means to identify pathways for therapeutic intervention. Recently, studies have revealed the importance of tissue-derived EVs (Ti-EVs), which are EVs present in the interstitial spaces between cells, as they better represent the underlying physiology of complex, multicellular tissue microenvironments in biology and disease. EVs are native, lipid bilayer membraned nano-sized particles produced by all cells that are packaged with varied functional biomolecules including proteins, lipids, and nucleic acids. They are implicated in short- and long-range cellular communication and may elicit …
Optimizing Tigertriever Adjustable Stentriever Technique: Operators’ Experience, Brian Jankowitz, Eitan Abergel, Ronit Agid, Abdul Rahman Al-Schameri, Krzysztof Bartosz Kądziołka, Allan Brook, Michael Diepers, Jeffrey Farkas, Johanna Fifi, Sebastian Fischer, Chirag Gandhi, Reid Gooch, Ramesh Grandhi, Guglielmo Pero, Guy Raphaeli, Sudipta Roychowdhury, Shahram Majidi, Christian Paul Stracke, Nader Sourour, Omar Tanweer, Satoshi Tateshima, Phil Taussky, Martin Wiesmann, Albert Yoo, Daniel W Zumofen, Justin Singer
Optimizing Tigertriever Adjustable Stentriever Technique: Operators’ Experience, Brian Jankowitz, Eitan Abergel, Ronit Agid, Abdul Rahman Al-Schameri, Krzysztof Bartosz Kądziołka, Allan Brook, Michael Diepers, Jeffrey Farkas, Johanna Fifi, Sebastian Fischer, Chirag Gandhi, Reid Gooch, Ramesh Grandhi, Guglielmo Pero, Guy Raphaeli, Sudipta Roychowdhury, Shahram Majidi, Christian Paul Stracke, Nader Sourour, Omar Tanweer, Satoshi Tateshima, Phil Taussky, Martin Wiesmann, Albert Yoo, Daniel W Zumofen, Justin Singer
Faculty, Staff and Students Publications
The Tigertriever is a novel, radially adjustable stentriever that addresses limitations in traditional mechanical thrombectomy devices by providing enhanced user control over clot integration. This provides the ability to adapt to patient-specific factors such as varying vessel sizes and clot compositions and may be particularly crucial for ensuring efficacy and safety in distal locations. This consensus paper synthesizes the clinical techniques from a consortium of experienced international operators. It outlines the current data on the Tigertriever, discusses the new operator-controlled capabilities, and provides a recommended approach for both proximal and distal mechanical thrombectomy, emphasizing the "FLEX" approach (Fast Controlled Expansion …
Peritoneal Baclofen Pump Migration: A Rare Complication Of Subfascial Placement Illustrative Cases, Ashley Ricciardelli, Jordan Guntin, Joshua Korb, Daniel J Curry, Nisha Gadgil
Peritoneal Baclofen Pump Migration: A Rare Complication Of Subfascial Placement Illustrative Cases, Ashley Ricciardelli, Jordan Guntin, Joshua Korb, Daniel J Curry, Nisha Gadgil
Faculty, Staff and Students Publications
BACKGROUND: The intrathecal baclofen pump is an effective treatment option for patients with severe spasticity. In children, subfascial pump placement is often preferred given concerns for infection and wound healing. However, this approach is not without risk, and rare complications, such as peritoneal pump migration, can occur.
OBSERVATIONS: The authors describe three pediatric cases of peritoneal pump migration at their institution over the past 14 years (3/545, 0.5%). All three patients had low body weight (below the 39th percentile), and two had scoliosis requiring surgery. All pumps had been placed using the subfascial technique. The first case occurred 6 months …
Axonal Injury, Sleep Disturbances, And Memory Following Traumatic Brain Injury, Emma M. Tinney, Goretti España-Irla, Aaron E. L. Warren, Lauren N. Whitehurst, Alexandra N. Stillman, Charles H. Hillman, Timothy P. Morris, Alzheimer’S Disease Neuroimaging Initiative
Axonal Injury, Sleep Disturbances, And Memory Following Traumatic Brain Injury, Emma M. Tinney, Goretti España-Irla, Aaron E. L. Warren, Lauren N. Whitehurst, Alexandra N. Stillman, Charles H. Hillman, Timothy P. Morris, Alzheimer’S Disease Neuroimaging Initiative
Neurology Faculty Publications
Objectives: Traumatic brain injury (TBI) is associated with sleep deficits, but it is not clear why some report sleep disturbances and others do not. The objective of this study was to assess the associations between axonal injury, sleep, and memory in chronic and acute TBI. Methods: Data were acquired from two independent datasets which included 156 older adult veterans (69.8 years) from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) with prior moderate- to-severe TBIs and 90 (69.2 years) controls and 374 (39.6 years) from Transforming Research and Clinical Knowledge in TBI (TRACK-TBI) with a recent mild TBI (mTBI) and 87 controls …
Dominant Missense Variants In Srebf2 Are Associated With Complex Dermatological, Neurological, And Skeletal Abnormalities, Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Wen-Wen Lin, Daniel J Wegner, Jennifer A Wambach, Angela L Duker, Michael B Bober, Lisa Kratz, Carol A Wise, Ila Oxendine, Anas Khanshour, Undiagnosed Diseases Network, Michael F Wangler, Shinya Yamamoto, F Sessions Cole, Jonathan Rios, Hugo J Bellen
Dominant Missense Variants In Srebf2 Are Associated With Complex Dermatological, Neurological, And Skeletal Abnormalities, Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Wen-Wen Lin, Daniel J Wegner, Jennifer A Wambach, Angela L Duker, Michael B Bober, Lisa Kratz, Carol A Wise, Ila Oxendine, Anas Khanshour, Undiagnosed Diseases Network, Michael F Wangler, Shinya Yamamoto, F Sessions Cole, Jonathan Rios, Hugo J Bellen
Duncan NRI Faculty and Staff Publications
Purpose: We identified 2 individuals with de novo variants in SREBF2 that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2 variants on SREBP pathway activation.
Methods: We undertook ultrastructure and gene expression analyses using fibroblasts from an affected individual and utilized a fly model of lipid droplet (LD) formation to investigate the consequences …
Perspectives On The Clinical Use Of Anti-Amyloid Therapy For The Treatment Of Alzheimer's Disease: Insights From The Fields Of Cancer, Rheumatology, And Neurology, Gregory Jicha, Erin Abner, Elif Pinar Coskun, Mark Huffmyer, Thomas Tucker, Peter T. Nelson
Perspectives On The Clinical Use Of Anti-Amyloid Therapy For The Treatment Of Alzheimer's Disease: Insights From The Fields Of Cancer, Rheumatology, And Neurology, Gregory Jicha, Erin Abner, Elif Pinar Coskun, Mark Huffmyer, Thomas Tucker, Peter T. Nelson
Neurology Faculty Publications
Introduction: The advent of disease-modifying therapies for Alzheimer’s disease (AD) has raised many questions and debates in the field as to the clinical benefits, risks, and costs of such therapies. The controversies have resulted in the perception that many clinicians are apprehensive about prescribing these medications to their patient populations. There also remains widespread uncertainty as to the economic impact, cost benefit ratio, and safety oversight for use of these medications in standard clinical care settings.
Methods: To contextualize such issues, the present study compared anti-amyloid biologic therapy (lecanemab) to four commonly used biologic agents in other fields, including trastuzumab …
The Seattle Amyotrophic Lateral Sclerosis (Als) Patient Project Database: Observational, Longitudinal, Dyadic Characterization Of People With Als And Their Partners, Suzanne C. Segerstrom, Edward J. Kasarskis
The Seattle Amyotrophic Lateral Sclerosis (Als) Patient Project Database: Observational, Longitudinal, Dyadic Characterization Of People With Als And Their Partners, Suzanne C. Segerstrom, Edward J. Kasarskis
Neurology Faculty Publications
Introduction: The median survival time in ALS is approximately 3 years, but survival times range from less than a year to more than 10 years and much variance in disease course remains to be explained. As is true for physical outcomes, there is considerable variance in QOL, which is influenced by psychological health, coping, and social support, among other psychosocial factors. The Seattle ALS Patient Project Database (SALSPPD) provides a unique opportunity for researchers to address established and novel hypotheses about disease progression and QOL in ALS.
Methods: The SALSPPD is a longitudinal dataset of people with ALS (n = …
Neuroimaging Of The Effects Of Drug Exposure Or Self-Administration In Rodents: A Systematic Review, Gunner Drossel, Sarah R Heilbronner, Jan Zimmermann, Anna Zilverstand
Neuroimaging Of The Effects Of Drug Exposure Or Self-Administration In Rodents: A Systematic Review, Gunner Drossel, Sarah R Heilbronner, Jan Zimmermann, Anna Zilverstand
Faculty, Staff and Students Publications
A systematic review of functional neuroimaging studies on drug (self-) administration in rodents is lacking. Here, we summarized effects of acute or chronic drug administration of various classes of drugs on brain function and determined consistency with human literature. We performed a systematic literature search and identified 125 studies on in vivo rodent resting-state functional magnetic resonance imaging (n = 84) or positron emission tomography (n = 41) spanning depressants (n = 27), opioids (n = 23), stimulants (n = 72), and cannabis (n = 3). Results primarily showed alterations in the striatum, consistent with the human literature. The anterior …
Treatment Response To Onabotulinumtoxina In Cervical Dystonia Patients With Anterocollis And Retrocollis, Khashayar Dashtipour, Marjan Sadeghi, David Charles, Shyamal Mehta, Hubert H Fernandez, Marc Schwartz, Joseph Jankovic
Treatment Response To Onabotulinumtoxina In Cervical Dystonia Patients With Anterocollis And Retrocollis, Khashayar Dashtipour, Marjan Sadeghi, David Charles, Shyamal Mehta, Hubert H Fernandez, Marc Schwartz, Joseph Jankovic
Faculty, Staff and Students Publications
Anterocollis (AC) and retrocollis (RC) are less common cervical dystonia (CD) subtypes that are often under-represented in CD clinical trials. Herein we describe real-world demographics, disease characteristics, and treatment response to onabotulinumtoxinA (onabotA) in AC or RC patients from an observational, multicenter, prospective registry, CD PROBE. After three onabotA treatments, outcomes (CDIP-58, PGIC, CGIC, CD severity, TWSTRS) in patients with predominant AC or RC were compared to torticollis (TC) and all CD subtypes combined. The mean dosages at each treatment ranged from 153.5 to 195.4 U (AC) to 184.0-213.4 U (RC). After treatment, AC and RC patients reported improvements in …
Directional Deep Brain Stimulation Lead Rotation In The Early Postoperative Period, Huy Q Dang, Gabriel Reyes, Ethan Devara, Nisha Giridharan, Anthony K Allam, Garrett P Banks, Ashwin Viswanathan, Ben Shofty, Sameer A Sheth
Directional Deep Brain Stimulation Lead Rotation In The Early Postoperative Period, Huy Q Dang, Gabriel Reyes, Ethan Devara, Nisha Giridharan, Anthony K Allam, Garrett P Banks, Ashwin Viswanathan, Ben Shofty, Sameer A Sheth
Faculty, Staff and Students Publications
Background and objectives: Directional deep brain stimulation (DBS) enables treatment optimization by current steering using segmented leads. Identification of the lead's rotational orientation is critical to guide programming decisions. Orientation is often assessed during or immediately after implant, but the degree of lead rotation in the following weeks is not well appreciated. Our objective was to measure the degree of DBS lead rotational orientation changes within the first few weeks after surgery.
Methods: We retrospectively reviewed the clinical records of patients who were implanted with segmented DBS leads at our institution. All included patients had at least 1 immediate postoperative …
Stereo-Electroencephalography-Guided Network Neuromodulation For Psychiatric Disorders: The Neurophysiology Monitoring Unit, Anusha B Allawala, Kelly R Bijanki, Joshua Adkinson, Denise Oswalt, Evangelia Tsolaki, Sanjay Mathew, Raissa K Mathura, Eleonora Bartoli, Nicole Provenza, Andrew J Watrous, Jiayang Xiao, Victoria Pirtle, Madaline M Mocchi, Sameer Rajesh, Nabeel Diab, Jeffrey F Cohn, David A Borton, Wayne K Goodman, Nader Pouratian, Sameer A Sheth
Stereo-Electroencephalography-Guided Network Neuromodulation For Psychiatric Disorders: The Neurophysiology Monitoring Unit, Anusha B Allawala, Kelly R Bijanki, Joshua Adkinson, Denise Oswalt, Evangelia Tsolaki, Sanjay Mathew, Raissa K Mathura, Eleonora Bartoli, Nicole Provenza, Andrew J Watrous, Jiayang Xiao, Victoria Pirtle, Madaline M Mocchi, Sameer Rajesh, Nabeel Diab, Jeffrey F Cohn, David A Borton, Wayne K Goodman, Nader Pouratian, Sameer A Sheth
Faculty, Staff and Students Publications
Background and objectives: Recent advances in stereotactic and functional neurosurgery have brought forth the stereo-electroencephalography approach which allows deeper interrogation and characterization of the contributions of deep structures to neural and affective functioning. We argue that this approach can and should be brought to bear on the notoriously intractable issue of defining the pathophysiology of refractory psychiatric disorders and developing patient-specific optimized stimulation therapies.
Methods: We have developed a suite of methods for maximally leveraging the stereo-electroencephalography approach for an innovative application to understand affective disorders, with high translatability across the broader range of refractory neuropsychiatric conditions.
Results: This article …
Distinct Basal Forebrain-Originated Neural Circuits Promote Homoeostatic Feeding And Suppress Hedonic Feeding In Male Mice, Hailan Liu, Jonathan C Bean, Yongxiang Li, Meng Yu, Olivia Z Ginnard, Kristine M Conde, Mengjie Wang, Xing Fang, Hesong Liu, Longlong Tu, Na Yin, Junying Han, Yongjie Yang, Qingchun Tong, Benjamin R Arenkiel, Chunmei Wang, Yang He, Yong Xu
Distinct Basal Forebrain-Originated Neural Circuits Promote Homoeostatic Feeding And Suppress Hedonic Feeding In Male Mice, Hailan Liu, Jonathan C Bean, Yongxiang Li, Meng Yu, Olivia Z Ginnard, Kristine M Conde, Mengjie Wang, Xing Fang, Hesong Liu, Longlong Tu, Na Yin, Junying Han, Yongjie Yang, Qingchun Tong, Benjamin R Arenkiel, Chunmei Wang, Yang He, Yong Xu
Faculty, Staff and Students Publications
Feeding behaviour is influenced by two primary factors: homoeostatic needs driven by hunger and hedonic desires for pleasure even in the absence of hunger. While efficient homoeostatic feeding is vital for survival, excessive hedonic feeding can lead to adverse consequences such as obesity and metabolic dysregulations. However, the neurobiological mechanisms that orchestrate homoeostatic versus hedonic food consumption remain largely unknown. Here we show that GABAergic proenkephalin (Penk) neurons in the diagonal band of Broca (DBB) of male mice respond to food presentation. We further demonstrate that a subset of DBBPenk neurons that project to the paraventricular nucleus of the hypothalamus …
Leptomeningeal Carcinomatosis In A Young Patient With Colorectal Cancer: A Case Report, Zamanali Khakhar, Soraiya Manji, Rajiv Patel, Karishma Sharma, Sheila Waa, Sayed Karar
Leptomeningeal Carcinomatosis In A Young Patient With Colorectal Cancer: A Case Report, Zamanali Khakhar, Soraiya Manji, Rajiv Patel, Karishma Sharma, Sheila Waa, Sayed Karar
Internal Medicine, East Africa
Leptomeningeal carcinomatosis (LMC) is a rare and fatal complication associated with various solid tumors and hematological malignancies. It presents significant diagnostic challenges due to its nonspecific symptoms and complex clinical course. This case report details the presentation, diagnosis, and implications of LMC in a 33-year-old male with a history of colorectal cancer (CRC) and hemicolectomy. The patient presented with nonspecific symptoms of headache and dizziness. Cerebrospinal fluid cytology revealed the presence of malignant cells, leading to the diagnosis of LMC secondary to CRC. The elusive and multifaceted nature of this condition highlights the necessity for increased clinical awareness and extensive …
Predictors Of Outcome And Symptomatic Intracranial Hemorrhage In Acute Basilar Artery Occlusions: Analysis Of The Pc-Search Thrombectomy Registry., Adam T Mierzwa, Ashley Nelson, Sami Al Kasab, Santiago Ortega Gutierrez, Juan Vivanco-Suarez, Mudassir Farooqui, Ashutosh P Jadhav, Shashvat Desai, Gabor Toth, Anas Alrohimi, Thanh N Nguyen, Piers Klein, Mohamad Abdalkader, Hisham Salahuddin, Aditya Pandey, Zachary Wilseck, Sravanthi Koduri, Niraj Vora, Nameer Aladamat, Khaled Gharaibeh, Ehad Afreen, Hisham Al-Hajala, Julie Shawver, Syed Zaidi, Mouhammad Jumaa
Predictors Of Outcome And Symptomatic Intracranial Hemorrhage In Acute Basilar Artery Occlusions: Analysis Of The Pc-Search Thrombectomy Registry., Adam T Mierzwa, Ashley Nelson, Sami Al Kasab, Santiago Ortega Gutierrez, Juan Vivanco-Suarez, Mudassir Farooqui, Ashutosh P Jadhav, Shashvat Desai, Gabor Toth, Anas Alrohimi, Thanh N Nguyen, Piers Klein, Mohamad Abdalkader, Hisham Salahuddin, Aditya Pandey, Zachary Wilseck, Sravanthi Koduri, Niraj Vora, Nameer Aladamat, Khaled Gharaibeh, Ehad Afreen, Hisham Al-Hajala, Julie Shawver, Syed Zaidi, Mouhammad Jumaa
Neuroscience Articles
INTRODUCTION: Recent randomized controlled trials demonstrated superiority of mechanical thrombectomy compared to medical therapy in acute basilar artery occlusions, however, little data is available to guide clinicians in functional prognosis and risk stratification.
PATIENTS AND METHODS: Data from the retrospectively established PC-SEARCH Thrombectomy registry, which included patients with basilar artery occlusion from eight sites from January 2015 to December 2021, was interrogated. Outcomes were dichotomized into 90-day favorable (mRS ⩽ 3) and unfavorable (mRS > 3). Multivariate logistic regression analysis was performed with respect to the outcome groups and were adjusted for potential confounding baseline characteristics.
RESULTS: Four-hundred-forty-four patients were included …
Arcuate Dopaminergic/Gabaergic Neurons Project Within The Hypothalamus And To The Median Eminence, Somya Mittal, Benjamin R Arenkiel, Ariel M Lyons-Warren
Arcuate Dopaminergic/Gabaergic Neurons Project Within The Hypothalamus And To The Median Eminence, Somya Mittal, Benjamin R Arenkiel, Ariel M Lyons-Warren
Duncan NRI Faculty and Staff Publications
Cotransmission, meaning the release of multiple neurotransmitters from one synapse, allows for increased diversity of signaling in the brain. Dopamine (DA) and γ-aminobutyric acid (GABA) are known to coexpress in many regions such as the olfactory bulb and the ventral tegmental area. Tuberoinfundibular dopaminergic neurons (TIDA) in the arcuate nucleus of the hypothalamus (Arc) project to the median eminence (ME) and regulate prolactin release from the pituitary, and prior work suggests dopaminergic Arc neurons also cotransmit GABA. However, the extent of cotransmission, and the projection patterns of these neurons have not been fully revealed. Here, we used a genetic intersectional …
Mondoa And Aki And Aki-To-Ckd Transition, Shihomi Maeda, Shinsuke Sakai, Yoshitsugu Takabatake, Takeshi Yamamoto, Satoshi Minami, Jun Nakamura, Tomoko Namba-Hamano, Atsushi Takahashi, Jun Matsuda, Hiroaki Yonishi, Sho Matsui, Atsuhiro Imai, Ryuya Edahiro, Hitomi Yamamoto-Imoto, Isao Matsui, Seiji Takashima, Ryoichi Imamura, Norio Nonomura, Motoko Yanagita, Yukinori Okada, Andrea Ballabio, Shuhei Nakamura, Tamotsu Yoshimori, Yoshitaka Isaka
Mondoa And Aki And Aki-To-Ckd Transition, Shihomi Maeda, Shinsuke Sakai, Yoshitsugu Takabatake, Takeshi Yamamoto, Satoshi Minami, Jun Nakamura, Tomoko Namba-Hamano, Atsushi Takahashi, Jun Matsuda, Hiroaki Yonishi, Sho Matsui, Atsuhiro Imai, Ryuya Edahiro, Hitomi Yamamoto-Imoto, Isao Matsui, Seiji Takashima, Ryoichi Imamura, Norio Nonomura, Motoko Yanagita, Yukinori Okada, Andrea Ballabio, Shuhei Nakamura, Tamotsu Yoshimori, Yoshitaka Isaka
Duncan NRI Faculty and Staff Publications
Key Points:
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The expression of MondoA was decreased in the renal tubules of patients with CKD.
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Genetic ablation of MondoA in proximal tubules inhibited autophagy and increased vulnerability to AKI through increased expression of Rubicon.
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MondoA ablation during the recovery phase after ischemia-reperfusion aggravated kidney injury through downregulation of the transcription factor EB-peroxisome proliferator-activated receptor-γ coactivator-1α axis.
Background: Elderly individuals and patients with CKD are at a higher risk of AKI. The transcription factor MondoA is downregulated in the kidneys of aged individuals or patients with AKI; however, its roles in AKI development and the AKI-to-CKD transition remain …
The Cerebellum Modulates Thirst, Ila Mishra, Bing Feng, Bijoya Basu, Amanda M Brown, Linda H Kim, Tao Lin, Mir Abbas Raza, Amelia Moore, Abigayle Hahn, Samantha Bailey, Alaina Sharp, Juan C Bournat, Claire Poulton, Brian Kim, Amos Langsner, Aaron Sathyanesan, Roy V Sillitoe, Yanlin He, Atul R Chopra
The Cerebellum Modulates Thirst, Ila Mishra, Bing Feng, Bijoya Basu, Amanda M Brown, Linda H Kim, Tao Lin, Mir Abbas Raza, Amelia Moore, Abigayle Hahn, Samantha Bailey, Alaina Sharp, Juan C Bournat, Claire Poulton, Brian Kim, Amos Langsner, Aaron Sathyanesan, Roy V Sillitoe, Yanlin He, Atul R Chopra
Duncan NRI Faculty and Staff Publications
The cerebellum, a phylogenetically ancient brain region, has long been considered strictly a motor control structure. Recent studies have implicated the cerebellum in cognition, sensation, emotion and autonomic function, making it an important target for further investigation. Here, we show that cerebellar Purkinje neurons in mice are activated by the hormone asprosin, leading to enhanced thirst, and that optogenetic or chemogenetic activation of Purkinje neurons induces rapid manifestation of water drinking. Purkinje neuron-specific asprosin receptor (Ptprd) deletion results in reduced water intake without affecting food intake and abolishes asprosin's dipsogenic effect. Purkinje neuron-mediated motor learning and coordination were unaffected by …
Spinal Cord Stimulator Implantation For Complex Regional Pain Syndrome In Patient With Extensive Vertebral Surgical History: A Case Report, Munfarid A Zaidi, Mily Talati, Krishna Shah
Spinal Cord Stimulator Implantation For Complex Regional Pain Syndrome In Patient With Extensive Vertebral Surgical History: A Case Report, Munfarid A Zaidi, Mily Talati, Krishna Shah
Faculty, Staff and Students Publications
Spinal cord stimulation (SCS) has emerged as a novel therapeutic option for refractory complex regional pain syndrome (CRPS). However, SCS placement is often complicated by a prior history of surgical manipulation and hardware implantation along the spinal column. Through this case exploration, we aim to expand the technical approach to SCS implantation in CRPS and encourage further research into innovative approaches for this treatment modality. Our patient is a 61-year-old female with a past medical history of bilateral C7 cervical pedicle fracture status and extensive surgical manipulation, including cervical laminectomy and hardware placement along the cervical spine. The development of …
Utilizing Thalamic Deep Brain Stimulation For An Electronic Seizure Diary In A Definite Sudden Unexpected Death In Epilepsy Case, Surya Suresh, Yash Vakilna, Vladimir Vashin, Samden Lhatoo, Sandipan Pati
Utilizing Thalamic Deep Brain Stimulation For An Electronic Seizure Diary In A Definite Sudden Unexpected Death In Epilepsy Case, Surya Suresh, Yash Vakilna, Vladimir Vashin, Samden Lhatoo, Sandipan Pati
Faculty, Staff and Student Publications
Objective: Sudden unexpected death in epilepsy (SUDEP) is a serious threat to individuals with intractable epilepsies, contributing to premature mortality. Understanding the elusive pathophysiological mechanisms of SUDEP, especially in cases without observable terminal events, remains a crucial area for investigation. This study aimed to shed light on the burden of epileptiform activity preceding SUDEP by utilizing an automated electronic seizure diary derived from a sensing-enabled thalamic deep brain stimulator (DBS).
Methods: Herein, we present the case of a 57-year-old man afflicted with intractable multifocal epilepsy secondary to cortical dysplasia and encephalomalacia resulting from severe traumatic brain injury. Despite an initial …
Use Of Long Spinal Board Post-Application Of Protocol For Spinal Motion Restriction For Spinal Cord Injury, Amber D Rice, Philipp L Hannan, Memu-Iye Kamara, Joshua B Gaither, Robyn Blust, Vatsal Chikani, Franco Castro-Marin, Gail Bradley, Bentley J Bobrow, Rachel Munn, Mary Knotts, Justin Lara
Use Of Long Spinal Board Post-Application Of Protocol For Spinal Motion Restriction For Spinal Cord Injury, Amber D Rice, Philipp L Hannan, Memu-Iye Kamara, Joshua B Gaither, Robyn Blust, Vatsal Chikani, Franco Castro-Marin, Gail Bradley, Bentley J Bobrow, Rachel Munn, Mary Knotts, Justin Lara
Faculty, Staff and Student Publications
Introduction: Historically, prehospital care of trauma patients has included nearly universal use of a cervical collar (C-collar) and long spine board (LSB). Due to recent evidence demonstrating harm in using LSBs, implementation of new spinal motion restriction (SMR) protocols in the prehospital setting should reduce LSB use, even among patients with spinal cord injury. Our goal in this study was to evaluate the rates of and reasons for LSB use in high-risk patients-those with hospital-diagnosed spinal cord injury (SCI)-after statewide implementation of SMR protocols.
Methods: Applying data from a state emergency medical services (EMS) registry to a state hospital discharge …