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Articles 181 - 205 of 205
Full-Text Articles in Neurology
Acute Disseminated Encephalomyelitis (Adem), Children's Health School Services
Acute Disseminated Encephalomyelitis (Adem), Children's Health School Services
School Guides
Educator guide about how to support students with acute disseminated encephalomyelitis or ADEM.
Multiple Sclerosis, Children's Health School Services
Multiple Sclerosis, Children's Health School Services
School Guides
Educator guide about how to support students with multiple sclerosis.
The Effects Of Non-Pharmacologic Interventions On Preventing Secondary Stroke: An Integrated Research Review, Ahnnabeth Everard Millis
The Effects Of Non-Pharmacologic Interventions On Preventing Secondary Stroke: An Integrated Research Review, Ahnnabeth Everard Millis
Covenant Nurses Week 2026
No abstract provided.
Improving Patient Outcomes Through Structured Nursing Surveillance In Acute Stroke And Transient Ischemic Attack (Tia): An Integrative Research Review (Irr), Sheeba Everard Matthew
Improving Patient Outcomes Through Structured Nursing Surveillance In Acute Stroke And Transient Ischemic Attack (Tia): An Integrative Research Review (Irr), Sheeba Everard Matthew
Covenant Nurses Week 2026
No abstract provided.
Enhancing Early Seizure Detection In Cricial Care Through Nurse-Driven Rapid Eeg, Dylan Delaney, Brenna Gale Jackson, Ruben Sanchez, Amanda Garza, Rebecca Kilgore
Enhancing Early Seizure Detection In Cricial Care Through Nurse-Driven Rapid Eeg, Dylan Delaney, Brenna Gale Jackson, Ruben Sanchez, Amanda Garza, Rebecca Kilgore
Covenant Nurses Week 2026
No abstract provided.
Age-Related Ultrastructural Differences In The Dorsal Cortex Of The Inferior Colliculus In The Fischer Brown Norway Rat, Kylee M. Tenney, Dakota Smallridge, Gillian Barach, Gurveer Singh, Erin Beskitt, Justine Busby, Syllissa Duncan, Alexa Wawrzyniak, Brenda Vega, Nick Tokar, Andrew Ohl, Jesse Young, Jeffrey Mellott
Age-Related Ultrastructural Differences In The Dorsal Cortex Of The Inferior Colliculus In The Fischer Brown Norway Rat, Kylee M. Tenney, Dakota Smallridge, Gillian Barach, Gurveer Singh, Erin Beskitt, Justine Busby, Syllissa Duncan, Alexa Wawrzyniak, Brenda Vega, Nick Tokar, Andrew Ohl, Jesse Young, Jeffrey Mellott
Williams Honors College, Honors Research Projects
The inferior colliculus is a nucleus in the auditory midbrain that plays an important role in sound and speech processing through how it encodes temporal precision. Temporal precision depends on the balance of inhibition and excitation within the IC. This balance degrades during aging. Age-related changes in synapses have been described in the lemniscal IC as a contributing factor for this imbalance. However, it is unknown if aging affects synapses throughout the non-lemniscal IC in a similar manner. We sought to determine this by examining the dorsal cortex of the IC. The ICd is a non-lemniscal nucleus that is well …
Stat4-Dependent Regulation Of Neuroinflammation In Atherosclerosis, Natalie Stahr, Alina K. Moriarty, Shelby D. Ma, W. Coles Keeter, Woong-Ki Kim, Larry D. Sanford, Elena V. Galkina
Stat4-Dependent Regulation Of Neuroinflammation In Atherosclerosis, Natalie Stahr, Alina K. Moriarty, Shelby D. Ma, W. Coles Keeter, Woong-Ki Kim, Larry D. Sanford, Elena V. Galkina
Department of Biomedical and Translational Sciences Faculty Publications
Atherosclerosis is linked to an increased risk of cognitive decline, with chronic inflammation being a common feature of both pathologies. IL-12 activates STAT4 to regulate myeloid cell functions, and blockade of this pathway alleviates cognitive impairment in Alzheimer's models. However, the mechanisms connecting vascular pathology to neuroinflammation remain unclear. Here, we examine whether STAT4 functions as a common mediator of neuroinflammation in atherosclerosis. We demonstrate that LysMCre-specific STAT4 deficiency ameliorates deficits in long-term memory in low-density lipoprotein-deficient (Ldlr-/-) mice fed a high-fat diet (HFD-C). STAT4 deficiency moderately reduces Ser199-phosphorylated Tau burden. Atherosclerosis alters brain immune …
The Effects Of Abused Drugs On Ferroptosis Pathways: Potential Therapeutic Targets For Substance Use Disorders, Tamara Bouchard, Brooke Russell, Liam Liyang Guo, Tina Nguyen, Yan Cheng, Yan Y. Sanders, Ming-Lei Guo
The Effects Of Abused Drugs On Ferroptosis Pathways: Potential Therapeutic Targets For Substance Use Disorders, Tamara Bouchard, Brooke Russell, Liam Liyang Guo, Tina Nguyen, Yan Cheng, Yan Y. Sanders, Ming-Lei Guo
Department of Biomedical and Translational Sciences Faculty Publications
Substance use disorders (SUDs) remain major public health concerns worldwide, particularly in developed countries. SUDs are characterized by persistent neuroinflammation and synaptic dysfunction in the brain. Despite decades of extensive investigation, the detailed mechanisms underlying SUDs remain elusive. Ferroptosis is a highly regulated cell death process deeply affected by iron metabolism, lipid peroxidation, reactive oxygen species (ROS) production, and antioxidant systems. It has been implicated in multiple neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and ischemic stroke. Recently, emerging evidence has highlighted the role of ferroptosis in drug-induced pathological changes. Various types of abused substances including alcohol, cocaine, …
The Postsynaptic Scaffolding Protein Sapap3 Shapes Mitochondrial Activity: The Case Of Huntington's Disease, Patrícia Coelho, Ildete Luísa Ferreira, Ana Sofia Lourenço, Daniela Marinho, Sandra Isabel Anjo, Zongwei Fang, Lígia Fão, Sandra I. Mota, Philippe J. Mas, Mário Carvalho, Rui Jorge Nobre, Carina Henriques, Joana Fraga, Dongqing Wang, Sandra Macedo Ribeiro, Luís Pereira De Almeida, Patrícia Monteiro, Isaura Simões, Darren J. Hart, Bruno Manadas, João Peça, Pedro Castanheira, A. Cristina Rego
The Postsynaptic Scaffolding Protein Sapap3 Shapes Mitochondrial Activity: The Case Of Huntington's Disease, Patrícia Coelho, Ildete Luísa Ferreira, Ana Sofia Lourenço, Daniela Marinho, Sandra Isabel Anjo, Zongwei Fang, Lígia Fão, Sandra I. Mota, Philippe J. Mas, Mário Carvalho, Rui Jorge Nobre, Carina Henriques, Joana Fraga, Dongqing Wang, Sandra Macedo Ribeiro, Luís Pereira De Almeida, Patrícia Monteiro, Isaura Simões, Darren J. Hart, Bruno Manadas, João Peça, Pedro Castanheira, A. Cristina Rego
Biological Sciences Faculty Publications
Postsynaptic scaffolding protein SAP90/PSD95-associated protein 3 (SAPAP3) modulates cortico-striatal signalling and regulates the maintenance of synaptic structure. Notably, SAPAP3 defects have been reported in several human psychiatric disorders that share pathophysiological features with Huntington’s disease (HD), a neurodegenerative disorder characterized by the expression of mutant huntingtin (mHTT) and marked dysfunction of cortico-striatal synapses and mitochondria. However, the role of SAPAP3 in mitochondrial function and HD pathophysiology remains unexplored. SAPAP3 was extracted from striatal synaptoneurosomes and analyzed by SWATH-MS proteomics to identify potential interactors, revealing SAPAP3 association with several mitochondrial proteins, particularly Mic60. These data were further complemented with proximity ligation …
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Incidentally Diagnosed During Post-Stroke Rehabilitation: A Case Report, Ching-Yun Liao, Chung-Hao Chao, Chih-Chin Hsu
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Incidentally Diagnosed During Post-Stroke Rehabilitation: A Case Report, Ching-Yun Liao, Chung-Hao Chao, Chih-Chin Hsu
Rehabilitation Practice and Science
背景
髓鞘少突膠質細胞糖蛋白抗體相關疾病(MOGAD)是一種罕見的自體免疫發炎性疾病,主要涉及中樞神經系統(CNS),其主要特徵是視神經、腦部和脊髓脫髓鞘。我們報告一例最初疑似復發性中風的病例,該病例在住院中風復健期間最終確診為MOGAD。
病例概要
49歲女性,左側大腦半球梗塞,在中風後復健期間出現多次右側肢體肌力下降伴隨失語症。這些神經功能波動偏離了典型卒中的預期復健軌跡。卒中發作兩個月後行腦部磁振造影(MRI)檢查,結果顯示右側內囊後肢、腦橋及C1脊髓出現多處新發病灶。後續血清學檢查顯示抗髓鞘少突膠質細胞糖蛋白(MOG)IgG抗體陽性,而水通道蛋白4(AQP4)抗體陰性,確診為MOGAD。患者接受了甲潑尼龍治療及充分的復健治療,追蹤期間肌力顯著改善,未見脫髓鞘病灶復發。
結論
本案例凸顯了復健科醫師在早期發現類似中風的神經發炎性疾病的關鍵作用。復健科醫師處於獨特的領先地位,能夠透過持續的功能監測識別「危險信號」;任何偏離預期復健路徑或無法解釋的神經功能波動都應促使醫生進行進一步檢查。早期識別此類非典型模式,並及時進行免疫治療和多學科康復,可以預防永久性功能衰退,並優化長期預後。
Family Mental Health – A Case Report, Vikrant Arora, Medha Kosireddy, Mathumitha Ananth, Kishor M. Manohar Rao
Family Mental Health – A Case Report, Vikrant Arora, Medha Kosireddy, Mathumitha Ananth, Kishor M. Manohar Rao
Digital Journal of Clinical Medicine
Psychiatric illness in India is estimated to be 15% as per National Mental Health Survey 2015-16. Mental health challenges within families, especially depression, anxiety disorders that are not common and when unaddressed exert cascading effects on all members, disrupting emotional cohesion, relational functioning, and socioeconomic stability. There are few case reports on entire family presenting to psychiatry department.
With informed consent a city-based middle-class family of non-consanguineous origin, where the 40-year-old female, presented with intractable limb pains and health anxiety, she had multiple consultation in last few months and her 48-year-old husband also had with episodic pains, irritability and her …
Experience Of Using Anti-Cd 20 Therapies In Multiple Sclerosis Patients In Kenya, Eunice Nyambane, Tejal Patel, Jacqueline Mavuti, Juzar Hooker, Dilraj Sokhi
Experience Of Using Anti-Cd 20 Therapies In Multiple Sclerosis Patients In Kenya, Eunice Nyambane, Tejal Patel, Jacqueline Mavuti, Juzar Hooker, Dilraj Sokhi
Internal Medicine, East Africa
Objective: The objective of the study was to evaluate the safety and efficacy of ocrelizumab (OCR) and rituximab (RTX) in multiple sclerosis.
Methods: This was a retrospective single-centre study. Ocrelizumab- and rituximab-treated patients were identified through the multiple sclerosis (MS) registry maintained at Aga Khan University Hospital Nairobi (AKUHN), Kenya. Adult patients aged 18–65 years old who fulfilled the McDonald 2017 diagnosis criteria and received treatment with either rituximab or ocrelizumab between January 2016 and June 2025 were retrospectively evaluated. Data collected at baseline included age, gender, first symptoms, disease duration since onset, MS phenotype, treatment duration, previous …
Don't Drink And Game: A Dual Mechanism Myelopathy Case Report, Benjamin Smith, Eyovel Eyassu, Sweta Thakur
Don't Drink And Game: A Dual Mechanism Myelopathy Case Report, Benjamin Smith, Eyovel Eyassu, Sweta Thakur
South Atlantic Division GME Research Days 2026
No abstract provided.
Stability Of Salivary Microrna Measures Across An Ncaa Division I Football Season: Implications For Microrna As A Biomarker Of Concussion, Thomas R. Campbell, Martina Zamponi, Delaney Leathers, Julie Cavallario, Jessica C. Martinez, Peter A. Mollica
Stability Of Salivary Microrna Measures Across An Ncaa Division I Football Season: Implications For Microrna As A Biomarker Of Concussion, Thomas R. Campbell, Martina Zamponi, Delaney Leathers, Julie Cavallario, Jessica C. Martinez, Peter A. Mollica
Rehabilitation Sciences Faculty Publications
Background
Clinicians often face challenges in concussion care due to a heavy reliance on subjective patient input. Recently, research has sought objective biomarkers, like salivary microRNAs, to improve concussion management. However, significant limitations hinder the use of microRNAs as a diagnostic tool, including the cumulative effects of a contact sport season. A better understanding of the response to a contact sport season would help researchers and clinicians interpret expression changes at the time of injury in the context of seasonal variation. in Therefore, this study investigated the reliability of previously identified salivary microRNA targets across one contact sport season.
Methods …
Multimodal Machine Learning For Alzheimer's Disease Classification Using Adni Biomarker Fusion, Hesameddin Mostaghimi, Hamid R. Okhravi, Bahar Niknejad, Daniel A. Cohen, Michel A. Audette, Alzheimer's Disease Neuroimaging Initiative
Multimodal Machine Learning For Alzheimer's Disease Classification Using Adni Biomarker Fusion, Hesameddin Mostaghimi, Hamid R. Okhravi, Bahar Niknejad, Daniel A. Cohen, Michel A. Audette, Alzheimer's Disease Neuroimaging Initiative
Electrical & Computer Engineering Faculty Publications
Despite ongoing advances, accurate diagnosis of Alzheimer’s disease (AD) remains challenging due to its multifactorial nature, comorbidities, and clinical heterogeneity. Accordingly, approaches that combine multimodal data may improve AD classification by integrating complementary information. To investigate this, we evaluated classification performance using a preprocessed ADNI-3 dataset comprising a shared set of clinical/cognitive features along with four imaging modality-based cohorts: trimodal (MRI + amyloid PET + tau PET), MRI + amyloid PET, MRI + tau PET, and MRI-only. We trained a range of supervised machine learning (ML) and deep learning (DL) classifiers using stratified five-fold cross-validation and evaluated performance using accuracy, …
Predicting Dementia Risk: Progress, Pitfalls, And Priorities, Patricia Nistor, Osvaldo Espin-Garcia, Zul Merali, Shehzad Ali
Predicting Dementia Risk: Progress, Pitfalls, And Priorities, Patricia Nistor, Osvaldo Espin-Garcia, Zul Merali, Shehzad Ali
Brain and Mind Institute
As populations age, identifying individuals at high risk for dementia has become a cornerstone of prevention-oriented public health policy. Accurate and scalable risk stratification could enable early intervention and resource targeting. However, existing models face methodological limitations, including constraints in available data and follow-up duration, challenges in dementia ascertainment, heterogeneity in modelling approaches, and limited external validation. This commentary discusses these challenges and identifies methodological priorities for developing dementia risk algorithms that are robust and suitable for real-world implementation.
Implementation And Clinical Utility Of Ultra-Low-Field Portable Magnetic Resonance Imaging For Postprocedural Neurological Evaluation In Ambulatory Neurosurgery: Illustrative Cases, Devan Patel, Vinay Jaikumar, Taysia P. T. Morioka, Laz Rifkin, Kenneth S. Jacoby, Jaims Lim, Anais Andrade, Aimee C. Degaetano, Pui Man Rosalind Lai, Elad I. Levy
Implementation And Clinical Utility Of Ultra-Low-Field Portable Magnetic Resonance Imaging For Postprocedural Neurological Evaluation In Ambulatory Neurosurgery: Illustrative Cases, Devan Patel, Vinay Jaikumar, Taysia P. T. Morioka, Laz Rifkin, Kenneth S. Jacoby, Jaims Lim, Anais Andrade, Aimee C. Degaetano, Pui Man Rosalind Lai, Elad I. Levy
EVMS School of Health Professions Faculty Publications
BACKGROUND
Elective endovascular neurosurgical procedures are increasingly performed in ambulatory neurosurgery centers, enabled by advances in catheter technology, safety of conscious sedation, and refined patient selection. Although complication rates are low, rapid evaluation of postprocedural neurological deficits remains critical. Conventional MRI is often impractical in outpatient or procedural settings, whereas ultra-low-field portable MRI (ULF-pMRI) systems (such as Swoop) allow bedside imaging with favorable diagnostic performance.
OBSERVATIONS
Two women in their 60s developed acute neurological deficits at an ambulatory neurosurgery center (ANSC) after diagnostic cerebral angiography in one case and elective internal carotid artery flow diversion in the other. In both …
Regional Pain Is Associated With Functional Performance In People With Parkinson's Disease, Ryan P. Duncan, Monica R. Hendricksen, Luke Ekdahl, Kevin Smaller, Benjamin Friedman, Miriam R. Rafferty
Regional Pain Is Associated With Functional Performance In People With Parkinson's Disease, Ryan P. Duncan, Monica R. Hendricksen, Luke Ekdahl, Kevin Smaller, Benjamin Friedman, Miriam R. Rafferty
Department of Medicine Faculty Publications
Background and Purpose:
Little is known about how pain influences physical function in people with mild Parkinson disease (PwPD). The purpose of this study was to investigate the association between physical function and pain presence, location, and intensity in PwPD who were evaluated in an early physical therapy program.
Methods:
Retrospective cross-sectional analysis of electronic medical records from patients with PD evaluated at a single center (2016-2023). Pain presence, location, and intensity (0-10 scale) were recorded at the initial physical therapy evaluation. Functional outcomes included 5-time sit-to-stand, 10-meter walk test, 6-minute walk test, timed up and go, mini-BESTest, and Functional …
Longitudinal Changes In Plasma Biomarkers Of Immune Activation, Neuronal Inflammation And Injury In Persons With Hiv Initiating Art, Merle Henderson, Peter Dutey-Magni, Carolina Herrera, Wolfgang Stöhr, Alejandro Arenas-Pinto, Owen Swann, Amanda Heslegrave, Henrik Zetterberg, John Tregoning, Sarah Fidler, François Raffi, Andrea Calcagno, Ab Babiker, Alan Winston
Longitudinal Changes In Plasma Biomarkers Of Immune Activation, Neuronal Inflammation And Injury In Persons With Hiv Initiating Art, Merle Henderson, Peter Dutey-Magni, Carolina Herrera, Wolfgang Stöhr, Alejandro Arenas-Pinto, Owen Swann, Amanda Heslegrave, Henrik Zetterberg, John Tregoning, Sarah Fidler, François Raffi, Andrea Calcagno, Ab Babiker, Alan Winston
CONRAD Publications
Background
Data on changes in biomarkers of brain health, and their associations with cognitive function in adults commencing either dual- or triple-antiretroviral therapy (ART) are sparse.
Methods
Plasma biomarkers (neurofilament light [NfL], glial fibrillary acidic protein [GFAP], sCD14, CXCL10, neopterin and IL-6) were measured at baseline and after 96 weeks on ART in individuals randomized to darunavir/ritonavir and either tenofovir-DF/emtricitabine (triple-ART, n = 119) or raltegravir (dual-ART, n = 119) in NEAT-001/ANRS143. Regression models examined associations of baseline and week-96 biomarker concentrations with HIV clinical parameters, composite cognitive test scores (Standardized neuropsychological test [NPZ], 7-domains) and treatment arm.
Results
In …
A Position Statement On Endovascular Models And Effectiveness Metrics For Mechanical Thrombectomy Navigation, On Behalf Of The Stakeholder Taskforce For Artificial Intelligence-Assisted Robotic Thrombectomy (Start), Harry Robertshaw, Anna Barnes, Phil Blakelock, Raphael Blanc, Robert Crossley, Rebecca Fahrig, Ameer E. Hassan, Benjamin Jackson, Lennart Karstensen
A Position Statement On Endovascular Models And Effectiveness Metrics For Mechanical Thrombectomy Navigation, On Behalf Of The Stakeholder Taskforce For Artificial Intelligence-Assisted Robotic Thrombectomy (Start), Harry Robertshaw, Anna Barnes, Phil Blakelock, Raphael Blanc, Robert Crossley, Rebecca Fahrig, Ameer E. Hassan, Benjamin Jackson, Lennart Karstensen
School of Medicine Publications
Although we are making progress in overcoming infectious diseases and cancer, one of the major medical challenges of the mid-21st century will be the increasing prevalence of stroke. Occlusions in large vessels are especially debilitating, yet effective treatment—needed within hours to achieve best outcomes—remains limited because of geographic accessibility. One solution for improving timely access to mechanical thrombectomy in geographically diverse populations is the widespread deployment of robotic surgical systems. Artificial intelligence assistance may enable the safe and effective upskilling of operators in this emerging therapeutic delivery approach. Our aim was to establish consensus frameworks for developing and validating artificial …
Cervical Laminectomy For Degenerative Cervical Myelopathy: Is There A Role In The Modern Day? A Systematic Review And Meta-Analysis, Christopher S. Lozano, Armaan K. Malhotra, Husain Shakil, Vishwathsen Karthikeyan, Neevya Balasubramaniam, Uzondu Agochukwu, Ankit I. Mehta, Aditya Vedantam, C. Rory Goodwin, Nathan Evaniew, Aminul I. Ahmed, Ricardo Rodrigues-Pinto, Michael Fehlings, James S. Harrop, Shekar N. Kurpad, Jefferson R. Wilson
Cervical Laminectomy For Degenerative Cervical Myelopathy: Is There A Role In The Modern Day? A Systematic Review And Meta-Analysis, Christopher S. Lozano, Armaan K. Malhotra, Husain Shakil, Vishwathsen Karthikeyan, Neevya Balasubramaniam, Uzondu Agochukwu, Ankit I. Mehta, Aditya Vedantam, C. Rory Goodwin, Nathan Evaniew, Aminul I. Ahmed, Ricardo Rodrigues-Pinto, Michael Fehlings, James S. Harrop, Shekar N. Kurpad, Jefferson R. Wilson
Department of Neurosurgery Faculty Papers
Study DesignSystematic Review and Meta-Analysis.ObjectivesTo compare clinical outcomes in degenerative cervical myelopathy (DCM) patients treated with laminectomy alone (LA) vs laminectomy with fusion (LF) and determine post-laminectomy kyphosis incidence.MethodsWe searched PubMed, Scopus, Embase, Web of Science, and MEDLINE from inception-September 2024 for studies comparing LA and LF for DCM. Outcomes assessed included post-laminectomy kyphosis, neurological recovery outcomes, patient-reported outcomes (PROs), and complication rates. Meta-analyses were performed using random-effects models.ResultsTwenty-seven studies including 3286 patients (2272 LA and 1014 LF), met the inclusion criteria. The pooled incidence of post-laminectomy kyphosis in the LA patients was 2.02 events per 100 person-years (95% CI: …
Conventional Versus Advanced Imaging Selection For Endovascular Treatment Of Basilar Artery Occlusion Strokes., Huanwen Chen, Marco Colasurdo, Hidetoshi Matsukawa, Conor Cunningham, Ilko Maier, Sami Al Kasab, 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, Jonathan A. Grossberg, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G. Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S. Park, Michael R. Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Ergun Daglioglu, Richard Williamson, Pedro Navia, Reade De Leacy, Shakeel Chowdhry, David J. Altschul, Alejandro M. Spiotta, Peter Kan
Conventional Versus Advanced Imaging Selection For Endovascular Treatment Of Basilar Artery Occlusion Strokes., Huanwen Chen, Marco Colasurdo, Hidetoshi Matsukawa, Conor Cunningham, Ilko Maier, Sami Al Kasab, 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, Jonathan A. Grossberg, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G. Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S. Park, Michael R. Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Ergun Daglioglu, Richard Williamson, Pedro Navia, Reade De Leacy, Shakeel Chowdhry, David J. Altschul, Alejandro M. Spiotta, Peter Kan
Department of Medicine Faculty Papers
INTRODUCTION: Endovascular thrombectomy (EVT) is an effective treatment for basilar artery occlusion (BAO) stroke in select patients. While there is a growing body of literature suggesting that advanced imaging modalities such as computed tomography perfusion (CTP) and magnetic resonance (MR) may not be necessary for selecting anterior circulation large vessel occlusion stroke patients for EVT, whether advanced imaging may be superior to conventional imaging (non-contrast CT and CT angiography) in identifying good treatment candidates among BAO patients is less clear.
PATIENTS AND METHODS: This was a multicenter retrospective cohort study of BAO EVT patients treated from 2013 to 2022 in …
Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group
Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group
Duncan NRI Faculty and Staff Publications
Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.
Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.
Results: Between …
Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe
Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe
Duncan NRI Faculty and Staff Publications
Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.
Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou
Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou
Duncan NRI Faculty and Staff Publications
Background and objectives: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.
Methods: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, …