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2023

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Articles 421 - 450 of 451

Full-Text Articles in Neurosciences

Primary Spinal Intramedullary Anaplastic Ganglioglioma In A Pediatric Patient, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Marc Prablek, Frank Y Lin, Melissa M Blessing, Guillermo Aldave, David Bauer Jan 2023

Primary Spinal Intramedullary Anaplastic Ganglioglioma In A Pediatric Patient, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Marc Prablek, Frank Y Lin, Melissa M Blessing, Guillermo Aldave, David Bauer

Faculty, Staff and Students Publications

BACKGROUND: Gangliogliomas (GGs) are rare tumors of the central nervous system composed of neoplastic neural and glial cells and are typically low-grade. Intramedullary spinal anaplastic GGs (AGG) are rare, poorly understood, and often aggressive tumors that can result in widespread progression along the craniospinal axis. Due to the rarity of these tumors, data are lacking to guide clinical and pathologic diagnosis and standard of care treatment. Here, we present a case of pediatric spinal AGG to provide information on our institutional approach to work-up and to highlight unique molecular pathology.

CASE DESCRIPTION: A 13-year-old female presented with signs of spinal …


Linked-Read Based Analysis Of The Medulloblastoma Genome, Melissa Zwaig, Michael J Johnston, John J Y Lee, Hamza Farooq, Marco Gallo, Nada Jabado, Michael D Taylor, Jiannis Ragoussis Jan 2023

Linked-Read Based Analysis Of The Medulloblastoma Genome, Melissa Zwaig, Michael J Johnston, John J Y Lee, Hamza Farooq, Marco Gallo, Nada Jabado, Michael D Taylor, Jiannis Ragoussis

Faculty, Staff and Students Publications

INTRODUCTION: Medulloblastoma is the most common type of malignant pediatric brain tumor with group 4 medulloblastomas (G4 MBs) accounting for 40% of cases. However, the molecular mechanisms that underlie this subgroup are still poorly understood. Point mutations are detected in a large number of genes at low incidence per gene while the detection of complex structural variants in recurrently affected genes typically requires the application of long-read technologies.

METHODS: Here, we applied linked-read sequencing, which combines the long-range genome information of long-read sequencing with the high base pair accuracy of short read sequencing and very low sample input requirements.

RESULTS: …


Spatial Analysis Of Nanoparticle Distribution In Human Breast Xenografts Reveals Nanoparticles Targeted To Cancer Cells Localized With Tumor-Associated Stromal Cells, Sean Healy, Elizabeth T Henderson, Suqi Ke, Jacqueline Kelly, Brian W Simons, Chen Hu, Robert Ivkov, Preethi Korangath Jan 2023

Spatial Analysis Of Nanoparticle Distribution In Human Breast Xenografts Reveals Nanoparticles Targeted To Cancer Cells Localized With Tumor-Associated Stromal Cells, Sean Healy, Elizabeth T Henderson, Suqi Ke, Jacqueline Kelly, Brian W Simons, Chen Hu, Robert Ivkov, Preethi Korangath

Faculty, Staff and Students Publications

The biological influence of physicochemical parameters of “targeted” nanoparticles on their delivery to cancer tumors remains poorly understood. A comparative analysis of nanoparticle distributions in tumors following systemic delivery across several models can provide valuable insights.

Methods: Bionized nanoferrite nanoparticles (iron oxide core coated with starch), either conjugated with a targeted anti-HER2 antibody (BH), or unconjugated (BP), were intravenously injected into athymic nude or NOD-scid gamma (NSG) female mice bearing one of five human breast cancer tumor xenografts growing in a mammary fat pad. Tumors were harvested 24 hours after nanoparticle injection, fixed, mounted, and stained. We performed detailed histopathology …


Protocol For The Promoting Resilience In Stress Management (Prism) Intervention: A Multi-Site Randomized Controlled Trial For Adolescents With Type 1 Diabetes, Maeve B O'Donnell, Samantha R Scott, Britney M Ellisor, Viena T Cao, Chuan Zhou, Miranda C Bradford, Catherine Pihoker, Daniel J Desalvo, Faisal S Malik, Marisa E Hilliard, Abby R Rosenberg, Joyce P Yi-Frazier Jan 2023

Protocol For The Promoting Resilience In Stress Management (Prism) Intervention: A Multi-Site Randomized Controlled Trial For Adolescents With Type 1 Diabetes, Maeve B O'Donnell, Samantha R Scott, Britney M Ellisor, Viena T Cao, Chuan Zhou, Miranda C Bradford, Catherine Pihoker, Daniel J Desalvo, Faisal S Malik, Marisa E Hilliard, Abby R Rosenberg, Joyce P Yi-Frazier

Faculty, Staff and Students Publications

BACKGROUND: Adolescents with type 1 diabetes (T1D) are at high risk for elevated diabetes distress, which greatly impacts diabetes management, glycemic outcomes and overall quality of life. Developing protective skills and "resilience resources" to navigate adversity and manage diabetes distress has high potential to help adolescents with T1D achieve optimal behavioral, psychological, and health outcomes. The "Promoting Resilience in Stress Management" (PRISM) program is a manualized, brief, skills-based intervention delivered over 6 months via two 45-60 min one-on-one sessions and a family meeting with a PRISM coach, and supplemented by booster calls and a digital app. This trial (PRISM versus …


The Role Of Supervised School Therapy In Poorly Controlled Asthma In Children, Muppala Raju, Malvika Sagar, Andrew Bush, Eugene Quaye, Shekhar Ghamande, Sonal Malhotra, Mercedes E Arroliga Jan 2023

The Role Of Supervised School Therapy In Poorly Controlled Asthma In Children, Muppala Raju, Malvika Sagar, Andrew Bush, Eugene Quaye, Shekhar Ghamande, Sonal Malhotra, Mercedes E Arroliga

Faculty, Staff and Students Publications

BACKGROUND: In children, nonadherence to inhaled corticosteroid (ICS) therapy leads to poor asthma control and complications.

METHODS: We evaluated the benefit from initiation of ICS administration once daily at school. We retrospectively chose patients from our pediatric pulmonary clinic who had poorly controlled asthma and prescribed ICS daily. For the study period, we examined the number of corticosteroid courses, emergency room visits, hospital admissions, symptom history, and pulmonary function tests.

RESULTS: Thirty-four patients who satisfied the inclusion criteria began the intervention. Preintervention, there were a mean number of 2.6 oral corticosteroid courses compared to 2 courses in the year following …


Cerebellar Dysfunction In Rodent Models With Dystonia, Tremor, And Ataxia, Meike E Van Der Heijden, Roy V Sillitoe Jan 2023

Cerebellar Dysfunction In Rodent Models With Dystonia, Tremor, And Ataxia, Meike E Van Der Heijden, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a movement disorder characterized by involuntary co- or over-contractions of the muscles, which results in abnormal postures and movements. These symptoms arise from the pathophysiology of a brain-wide dystonia network. There is mounting evidence suggesting that the cerebellum is a central node in this network. For example, manipulations that target the cerebellum cause dystonic symptoms in mice, and cerebellar neuromodulation reduces these symptoms. Although numerous findings provide insight into dystonia pathophysiology, they also raise further questions. Namely, how does cerebellar pathophysiology cause the diverse motor abnormalities in dystonia, tremor, and ataxia? Here, we describe recent work in rodents …


Upregulation Of The Escrt Pathway And Multivesicular Bodies Accelerates Degradation Of Proteins Associated With Neurodegeneration, Ron Benyair, Sai Srinivas Panapakkam Giridharan, Pilar Rivero-Ríos, Junya Hasegawa, Emily Bristow, Eeva-Liisa Eskelinen, Merav D Shmueli, Vered Fishbain-Yoskovitz, Yifat Merbl, Lisa M Sharkey, Henry L Paulson, Phyllis I Hanson, Samarjit Patnaik, Ismael Al-Ramahi, Juan Botas, Juan Marugan, Lois S Weisman Jan 2023

Upregulation Of The Escrt Pathway And Multivesicular Bodies Accelerates Degradation Of Proteins Associated With Neurodegeneration, Ron Benyair, Sai Srinivas Panapakkam Giridharan, Pilar Rivero-Ríos, Junya Hasegawa, Emily Bristow, Eeva-Liisa Eskelinen, Merav D Shmueli, Vered Fishbain-Yoskovitz, Yifat Merbl, Lisa M Sharkey, Henry L Paulson, Phyllis I Hanson, Samarjit Patnaik, Ismael Al-Ramahi, Juan Botas, Juan Marugan, Lois S Weisman

Duncan NRI Faculty and Staff Publications

Many neurodegenerative diseases, including Huntington’s disease (HD) and Alzheimer’s disease (AD), occur due to an accumulation of aggregation-prone proteins, which results in neuronal death. Studies in animal and cell models show that reducing the levels of these proteins mitigates disease phenotypes. We previously reported a small molecule, NCT-504, which reduces cellular levels of mutant huntingtin (mHTT) in patient fibroblasts as well as mouse striatal and cortical neurons from an HdhQ111 mutant mouse. Here, we show that NCT-504 has a broader potential, and in addition reduces levels of Tau, a protein associated with Alzheimer’s disease, as well as other tauopathies. We …


Long-Term Neuropsychological Outcomes In Children With Febrile Infection-Related Epilepsy Syndrome (Fires) Treated With Anakinra, Anima Shrestha, E Lynne Wood, Gretchen Berrios-Siervo, Coral M Stredny, Katrina Boyer, Clemente Vega, Srishti Nangia, Eyal Muscal, Krista Eschbach Jan 2023

Long-Term Neuropsychological Outcomes In Children With Febrile Infection-Related Epilepsy Syndrome (Fires) Treated With Anakinra, Anima Shrestha, E Lynne Wood, Gretchen Berrios-Siervo, Coral M Stredny, Katrina Boyer, Clemente Vega, Srishti Nangia, Eyal Muscal, Krista Eschbach

Faculty, Staff and Students Publications

BACKGROUND: Febrile-infection related epilepsy syndrome (FIRES) is a rare epilepsy syndrome in which a previously healthy individual develops refractory status epilepticus in the setting of a preceding febrile illness. There are limited data regarding detailed long-term outcomes. This study aims to describe the long-term neuropsychological outcomes in a series of pediatric patients with FIRES.

METHODS: This is a retrospective multi-center case series of pediatric patients with a diagnosis of FIRES treated acutely with anakinra who had neuropsychological testing at least 12 months after status epilepticus onset. Each patient underwent comprehensive neuropsychological evaluation as part of routine clinical care. Additional data …


Δfosb Is Part Of A Homeostatic Mechanism That Protects The Epileptic Brain From Further Deterioration, Jerome Clasadonte, Tania Deprez, Gabriel S Stephens, Georges Mairet-Coello, Pierre-Yves Cortin, Maxime Boutier, Aurore Frey, Jeannie Chin, Marek Rajman Jan 2023

Δfosb Is Part Of A Homeostatic Mechanism That Protects The Epileptic Brain From Further Deterioration, Jerome Clasadonte, Tania Deprez, Gabriel S Stephens, Georges Mairet-Coello, Pierre-Yves Cortin, Maxime Boutier, Aurore Frey, Jeannie Chin, Marek Rajman

Faculty, Staff and Students Publications

Activity induced transcription factor ΔFosB plays a key role in different CNS disorders including epilepsy, Alzheimer's disease, and addiction. Recent findings suggest that ΔFosB drives cognitive deficits in epilepsy and together with the emergence of small molecule inhibitors of ΔFosB activity makes it an interesting therapeutic target. However, whether ΔFosB contributes to pathophysiology or provides protection in drug-resistant epilepsy is still unclear. In this study, ΔFosB was specifically downregulated by delivering AAV-shRNA into the hippocampus of chronically epileptic mice using the drug-resistant pilocarpine model of mesial temporal epilepsy (mTLE). Immunohistochemistry analyses showed that prolonged downregulation of ΔFosB led to exacerbation …


The Role Of Hyperexcitability In Gliomagenesis, Eric A Goethe, Benjamin Deneen, Jeffrey Noebels, Ganesh Rao Jan 2023

The Role Of Hyperexcitability In Gliomagenesis, Eric A Goethe, Benjamin Deneen, Jeffrey Noebels, Ganesh Rao

Faculty, Staff and Students Publications

Glioblastoma is the most common malignant primary brain tumor. Recent studies have demonstrated that excitatory or activity-dependent signaling-both synaptic and non-synaptic-contribute to the progression of glioblastoma. Glutamatergic receptors may be stimulated via neuron-tumor synapses or release of glutamate by the tumor itself. Ion currents generated by these receptors directly alter the structure of membrane adhesion molecules and cytoskeletal proteins to promote migratory behavior. Additionally, the hyperexcitable milieu surrounding glioma increases the rate at which tumor cells proliferate and drive recurrent disease. Inhibition of excitatory signaling has shown to effectively reduce its pro-migratory and -proliferative effects.


Concurrent Idh1 And Idh2 Mutations In Glioblastoma: A Case Report, Ali S Haider, Chibawanye I Ene, Paolo Palmisciano, Maryam Haider, Ganesh Rao, Leomar Y Ballester, Gregory N Fuller Jan 2023

Concurrent Idh1 And Idh2 Mutations In Glioblastoma: A Case Report, Ali S Haider, Chibawanye I Ene, Paolo Palmisciano, Maryam Haider, Ganesh Rao, Leomar Y Ballester, Gregory N Fuller

Faculty, Staff and Students Publications

Isocitrate dehydrogenase (IDH) mutations are cornerstone diagnostic features in glioma classification. IDH mutations are typically characterized by mutually exclusive amino acid substitutions in the genes encoding for the IDH1 and the IDH2 enzyme isoforms. We report our institutional case of a diffuse astrocytoma with progression to secondary glioblastoma and concurrent IDH1/IDH2 mutations. A 49-year-old male underwent a subtotal resection of a lobular lesion within the right insula in 2013, revealing a WHO grade 3 anaplastic oligoastrocytoma, IDH1 mutated, 1p19q intact. Symptomatic tumor progression was suspected in 2018, leading to a surgical tumor biopsy that demonstrated WHO grade 4 IDH1 and …


Cerebral Microdialysis And Glucopenia In Traumatic Brain Injury: A Review, Himanshu Sharma, John P Mcginnis, Katherine E Kabotyanski, Shankar P Gopinath, Jerry C Goodman, Claudia Robertson, Jovany Cruz Navarro Jan 2023

Cerebral Microdialysis And Glucopenia In Traumatic Brain Injury: A Review, Himanshu Sharma, John P Mcginnis, Katherine E Kabotyanski, Shankar P Gopinath, Jerry C Goodman, Claudia Robertson, Jovany Cruz Navarro

Faculty, Staff and Students Publications

Traditionally, intracranial pressure (ICP) and partial brain tissue oxygenation (PbtO2) have been the primary invasive intracranial measurements used to guide management in patients with severe traumatic brain injury (TBI). After injury however, the brain develops an increased metabolic demand which may require an increment in the oxidative metabolism of glucose. Simultaneously, metabolic, and electrical dysfunction can lead to an inability to meet these demands, even in the absence of ischemia or increased intracranial pressure. Cerebral microdialysis provides the ability to accurately measure local concentrations of various solutes including lactate, pyruvate, glycerol and glucose. Experimental and clinical data demonstrate that such …


An Initial Experience Of Completion Hemispherotomy Via Magnetic Resonance-Guided Laser Interstitial Therapy, Vijay M Ravindra, Lucia Ruggieri, Nisha Gadgil, Angela P Addison, Ilana Patino, David D Gonda, Jason Chu, Laura Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James John Riviello, Elaine Seto, Krystal Elizabeth Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Rohini Coorg, Irfan Ali, Daniel Ikeda, Howard Weiner, Daniel J Curry Jan 2023

An Initial Experience Of Completion Hemispherotomy Via Magnetic Resonance-Guided Laser Interstitial Therapy, Vijay M Ravindra, Lucia Ruggieri, Nisha Gadgil, Angela P Addison, Ilana Patino, David D Gonda, Jason Chu, Laura Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James John Riviello, Elaine Seto, Krystal Elizabeth Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Rohini Coorg, Irfan Ali, Daniel Ikeda, Howard Weiner, Daniel J Curry

Duncan NRI Faculty and Staff Publications

Introduction: In carefully selected patients with medically refractory epilepsy, disconnective hemispherotomy can result in significant seizure freedom; however, incomplete disconnection can result in ongoing seizures and poses a significant challenge. Completion hemispherotomy provides an opportunity to finish the disconnection. We describe the use of magnetic resonance-guided laser interstitial thermal ablation (MRgLITT) for completion hemispherotomy.

Methods: Patients treated with completion hemispherotomy using MRgLITT at our institution were identified. Procedural and seizure outcomes were evaluated retrospectively.

Results: Five patients (3 males) underwent six MRgLITT procedures (one child treated twice) for completion hemispherotomy at a median age of 6 years (range 1.8-12.9). Two …


Social Behavioral Impairments In Syngap1-Related Intellectual Disability, Hajer Naveed, Maria Mccormack, J Lloyd Holder Jan 2023

Social Behavioral Impairments In Syngap1-Related Intellectual Disability, Hajer Naveed, Maria Mccormack, J Lloyd Holder

Duncan NRI Faculty and Staff Publications

Introduction: Developmental synaptopathies are neurodevelopmental disorders caused by genetic mutations disrupting the development and function of neuronal synapses.

Methods: We administered the validated Social Responsiveness Scale, Second Edition (SRS-2) to investigate the phenotypic presentation of social-behavioral impairments for the developmental synaptopathy-SYNGAP1-related Intellectual Disability (SYNGAP1-ID) (n = 32) compared with a phenotypically similar disorder Phelan-McDermid syndrome (PMD) (n = 27) and healthy controls (n = 43). A short form SRS-2 analysis (n = 85) was also conducted.

Results: Both SYNGAP1-ID and PMD had significantly elevated total and subcategory T-scores, with no significant score differences between SYNGAP1 …


Focused Ultrasound Thalamotomy: Correlation Of Postoperative Imaging With Neuropathological Findings, Sarah E Blitz, Matthew Torre, Melissa M J Chua, Sarah L Christie, Nathan J Mcdannold, G Rees Cosgrove Jan 2023

Focused Ultrasound Thalamotomy: Correlation Of Postoperative Imaging With Neuropathological Findings, Sarah E Blitz, Matthew Torre, Melissa M J Chua, Sarah L Christie, Nathan J Mcdannold, G Rees Cosgrove

Duncan NRI Faculty and Staff Publications

Magnetic resonance-guided high-intensity focused ultrasound (MRgFUS) is a rapidly developing technique used for tremor relief in tremor-predominant Parkinson's disease (PD) and essential tremor that has demonstrated successful results. Here, we describe the neuropathological findings in a woman who died from a fall 10 days after successful MRgFUS for tremor-predominant PD. Histological analysis demonstrates the characteristic early postoperative MRI findings including 3 distinct zones on T2-weighted imaging: (1) a hypointense core, (2) a hyperintense region with hypointense rim, and (3) a slightly hyperintense, poorly marginated surrounding area. Histopathological analyses also demonstrate the suspected cellular processes composing each of these regions including …


Specialized Intensive Inpatient Rehabilitation Is Crucial And Time-Sensitive For Functional Recovery From Disorders Of Consciousness, Bei Zhang, Katherine O'Brien, Jean Woo, Bradley Chi, Colton Reeh, Sheng Li, Sunil Kothari Jan 2023

Specialized Intensive Inpatient Rehabilitation Is Crucial And Time-Sensitive For Functional Recovery From Disorders Of Consciousness, Bei Zhang, Katherine O'Brien, Jean Woo, Bradley Chi, Colton Reeh, Sheng Li, Sunil Kothari

Faculty, Staff and Students Publications

BACKGROUND: Disorders of consciousness (DoCs) after severe brain injury are considered to be conditions with dire prognosis. Despite the accumulating evidence, inpatient rehabilitation is often denied by payers referring to the Medicare/Medicaid criteria, under the assumption that such patients will not "

OBJECTIVE: This study aimed to report on the effectiveness and efficiency of a specialized inpatient DoC rehabilitation program based on measurable clinical parameters.

METHODS: A retrospective cohort study was conducted. The cohort comprised 137 patients with DoC admitted to a specialized acute inpatient rehabilitation program between January 2014 and October 2018. Patients were categorized as having been admitted …


Function And Dysfunction Of The Dystonia Network: An Exploration Of Neural Circuits That Underlie The Acquired And Isolated Dystonias, Jason S Gill, Megan X Nguyen, Mariam Hull, Meike E Van Der Heijden, Ken Nguyen, Sruthi P Thomas, Roy V Sillitoe Jan 2023

Function And Dysfunction Of The Dystonia Network: An Exploration Of Neural Circuits That Underlie The Acquired And Isolated Dystonias, Jason S Gill, Megan X Nguyen, Mariam Hull, Meike E Van Der Heijden, Ken Nguyen, Sruthi P Thomas, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a highly prevalent movement disorder that can manifest at any time across the lifespan. An increasing number of investigations have tied this disorder to dysfunction of a broad "dystonia network" encompassing the cerebellum, thalamus, basal ganglia, and cortex. However, pinpointing how dysfunction of the various anatomic components of the network produces the wide variety of dystonia presentations across etiologies remains a difficult problem. In this review, a discussion of functional network findings in non-mendelian etiologies of dystonia is undertaken. Initially acquired etiologies of dystonia and how lesion location leads to alterations in network function are explored, first through …


Stereo-Eeg-Guided Network Modulation For Psychiatric Disorders: Surgical Considerations, Sameer A Sheth, Ben Shofty, Anusha Allawala, Jiayang Xiao, Joshua A Adkinson, Raissa K Mathura, Victoria Pirtle, John Myers, Denise Oswalt, Nicole R Provenza, Nisha Giridharan, Angela M Noecker, Garrett P Banks, Ron Gadot, Ricardo A Najera, Adrish Anand, Ethan Devara, Huy Dang, Eleonora Bartoli, Andrew Watrous, Jeffrey Cohn, David Borton, Sanjay J Mathew, Cameron C Mcintyre, Wayne Goodman, Kelly Bijanki, Nader Pouratian Jan 2023

Stereo-Eeg-Guided Network Modulation For Psychiatric Disorders: Surgical Considerations, Sameer A Sheth, Ben Shofty, Anusha Allawala, Jiayang Xiao, Joshua A Adkinson, Raissa K Mathura, Victoria Pirtle, John Myers, Denise Oswalt, Nicole R Provenza, Nisha Giridharan, Angela M Noecker, Garrett P Banks, Ron Gadot, Ricardo A Najera, Adrish Anand, Ethan Devara, Huy Dang, Eleonora Bartoli, Andrew Watrous, Jeffrey Cohn, David Borton, Sanjay J Mathew, Cameron C Mcintyre, Wayne Goodman, Kelly Bijanki, Nader Pouratian

Faculty, Staff and Students Publications

BACKGROUND: Deep brain stimulation (DBS) and other neuromodulatory techniques are being increasingly utilized to treat refractory neurologic and psychiatric disorders.

OBJECTIVE: /Hypothesis: To better understand the circuit-level pathophysiology of treatment-resistant depression (TRD) and treat the network-level dysfunction inherent to this challenging disorder, we adopted an approach of inpatient intracranial monitoring borrowed from the epilepsy surgery field.

METHODS: We implanted 3 patients with 4 DBS leads (bilateral pair in both the ventral capsule/ventral striatum and subcallosal cingulate) and 10 stereo-electroencephalography (sEEG) electrodes targeting depression-relevant network regions. For surgical planning, we used an interactive, holographic visualization platform to appreciate the 3D anatomy …


Behavioral Improvements Following Lesion Resection For Pediatric Epilepsy: Pediatric Psychosurgery?, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Himanshu Sharma, Cristina Trandafir, Fatema Malbari, Howard L Weiner Jan 2023

Behavioral Improvements Following Lesion Resection For Pediatric Epilepsy: Pediatric Psychosurgery?, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Himanshu Sharma, Cristina Trandafir, Fatema Malbari, Howard L Weiner

Faculty, Staff and Students Publications

Introduction: Resection of brain lesions associated with refractory epilepsy to achieve seizure control is well accepted. However, concurrent behavioral effects of these lesions such as changes in mood, personality, and cognition and the effects of surgery on behavior have not been well characterized. We describe 5 such children with epileptogenic lesions and significant behavioral abnormalities which improved after surgery.

Case descriptions: Five children (ages 3-14 years) with major behavioral abnormalities and lesional epilepsy were identified and treated at our center. Behavioral problems included academic impairment, impulsivity, self-injurious behavior, and decreased social interaction with diagnoses of ADHD, oppositional defiant disorder, and …


Sphingolipids In Neurodegenerative Diseases, Xueyang Pan, Debdeep Dutta, Shenzhao Lu, Hugo J Bellen Jan 2023

Sphingolipids In Neurodegenerative Diseases, Xueyang Pan, Debdeep Dutta, Shenzhao Lu, Hugo J Bellen

Faculty, Staff and Students Publications

Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is affected in a surprisingly broad set of NDDs. These include some lysosomal storage diseases (LSDs), hereditary sensory and autonomous neuropathy (HSAN), hereditary spastic paraplegia (HSP), infantile neuroaxonal dystrophy (INAD), Friedreich’s ataxia (FRDA), as well as some forms of amyotrophic lateral sclerosis (ALS) and Parkinson’s disease (PD). Many of these diseases have been modeled in Drosophila melanogaster and are associated with elevated levels of ceramides. Similar changes have also been reported in vertebrate cells and mouse models. Here, we …


Editorial: Surgical Techniques For The Management Of Pain, Anthony K Allam, Ashwin Viswanathan, Jason M Schwalb, Parag G Patil, M Benjamin Larkin Jan 2023

Editorial: Surgical Techniques For The Management Of Pain, Anthony K Allam, Ashwin Viswanathan, Jason M Schwalb, Parag G Patil, M Benjamin Larkin

Faculty, Staff and Students Publications

No abstract provided.


Stereo-Eeg-Guided Network Modulation For Psychiatric Disorders: Interactive Holographic Planning, Angela M Noecker, Jeffrey Mlakar, Kelly R Bijanki, Mark A Griswold, Nader Pouratian, Sameer A Sheth, Cameron C Mcintyre Jan 2023

Stereo-Eeg-Guided Network Modulation For Psychiatric Disorders: Interactive Holographic Planning, Angela M Noecker, Jeffrey Mlakar, Kelly R Bijanki, Mark A Griswold, Nader Pouratian, Sameer A Sheth, Cameron C Mcintyre

Faculty, Staff and Students Publications

Background: Connectomic modeling studies are expanding understanding of the brain networks that are modulated by deep brain stimulation (DBS) therapies. However, explicit integration of these modeling results into prospective neurosurgical planning is only beginning to evolve. One challenge of employing connectomic models in patient-specific surgical planning is the inherent 3D nature of the results, which can make clinically useful data integration and visualization difficult.

Methods: We developed a holographic stereotactic neurosurgery research tool (HoloSNS) that integrates patient-specific brain models into a group-based visualization environment for interactive surgical planning using connectomic hypotheses. HoloSNS currently runs on the HoloLens 2 platform and …


Physical Activity And Brain Amyloid Beta: A Longitudinal Analysis Of Cognitively Unimpaired Older Adults, Michael G. Slee, Stephanie R. Rainey-Smith, Victor L. Villemagne, James D. Doecke, Hamid R. Sohrabi, Kevin Taddei, David Ames, Vincent Dore, Paul Maruff, Simon M. Laws, Colin L. Masters, Christopher C. Rowe, Ralph N. Martins, Kirk I. Erickson, Belinda M. Brown Jan 2023

Physical Activity And Brain Amyloid Beta: A Longitudinal Analysis Of Cognitively Unimpaired Older Adults, Michael G. Slee, Stephanie R. Rainey-Smith, Victor L. Villemagne, James D. Doecke, Hamid R. Sohrabi, Kevin Taddei, David Ames, Vincent Dore, Paul Maruff, Simon M. Laws, Colin L. Masters, Christopher C. Rowe, Ralph N. Martins, Kirk I. Erickson, Belinda M. Brown

Research outputs 2022 to 2026

Introduction: The current study evaluated the relationship between habitual physical activity (PA) levels and brain amyloid beta (A ) over 15 years in a cohort of cognitively unimpaired older adults. Methods: PA and A measures were collected over multiple timepoints from 731 cognitively unimpaired older adults participating in the Australian Imaging, Biomarkers and Lifestyle (AIBL) Study of Aging. Regression modeling examined cross-sectional and longitudinal relationships between PA and brain A . Moderation analyses examined apolipoprotein E (APOE) 4 carriage impact on the PA-A relationship. Results: PA was not associated with brain A at baseline ( = –0.001, p = 0.72) …


Imaging Synaptic Density In Depression, Sophie E Holmes, Chadi Abdallah, Irina Esterlis Jan 2023

Imaging Synaptic Density In Depression, Sophie E Holmes, Chadi Abdallah, Irina Esterlis

Faculty, Staff and Students Publications

Major depressive disorder is a prevalent and heterogeneous disorder with treatment resistance in at least 50% of individuals. Most of the initial studies focused on the monoamine system; however, recently other mechanisms have come under investigation. Specific to the current issue, studies show synaptic involvement in depression. Other articles in this issue report on reductions in synaptic density, dendritic spines, boutons and glia associated with stress and depression. Importantly, it appears that some drugs (e.g., ketamine) may lead to rapid synaptic restoration or synaptogenesis. Direct evidence for this comes from preclinical work. However, neuroimaging studies, such as magnetic resonance imaging …


Sixteen-Year Longitudinal Evaluation Of Blood-Based Dna Methylation Biomarkers For Early Prediction Of Alzheimer's Disease, Fernanda Schäfer Hackenhaar, Maria Josefsson, Annelie Nordin Adolfsson, Mattias Landfors, Karolina Kauppi, Tenielle Porter, Lidija Milicic, Simon M. Laws, Magnus Hultdin, Rolf Adolfsson, Sofie Degerman, Sara Pudas, Australian Imaging Biomarkers And Lifestyle Study Jan 2023

Sixteen-Year Longitudinal Evaluation Of Blood-Based Dna Methylation Biomarkers For Early Prediction Of Alzheimer's Disease, Fernanda Schäfer Hackenhaar, Maria Josefsson, Annelie Nordin Adolfsson, Mattias Landfors, Karolina Kauppi, Tenielle Porter, Lidija Milicic, Simon M. Laws, Magnus Hultdin, Rolf Adolfsson, Sofie Degerman, Sara Pudas, Australian Imaging Biomarkers And Lifestyle Study

Research outputs 2022 to 2026

BACKGROUND: DNA methylation (DNAm), an epigenetic mark reflecting both inherited and environmental influences, has shown promise for Alzheimer's disease (AD) prediction. OBJECTIVE: Testing long-term predictive ability ( > 15 years) of existing DNAm-based epigenetic age acceleration (EAA) measures and identifying novel early blood-based DNAm AD-prediction biomarkers. METHODS: EAA measures calculated from Illumina EPIC data from blood were tested with linear mixed-effects models (LMMs) in a longitudinal case-control sample (50 late-onset AD cases; 51 matched controls) with prospective data up to 16 years before clinical onset, and post-onset follow-up. Novel DNAm biomarkers were generated with epigenome-wide LMMs, and Sparse Partial Least Squares …


Elevated Plasma Sclerostin Is Associated With High Brain Amyloid-B Load In Cognitively Normal Older Adults, Jun Yuan, Steve Pedrini, Rohith Thota, James Doecke, Pratishtha Chatterjee, Hamid R. Sohrabi, Charlotte E. Teunissen, Inge M. W. Verberk, Erik Stoops, Hugo Vanderstichele, Bruno P. Meloni, Christopher Mitchell, Stephanie Rainey-Smith, Kathryn Goozee, Andrew C. P. Tai, Nicholas Ashton, Henrik Zetterberg, Kaj Blennow, Junjie Gao, Delin Liu, Frank Mastaglia, Charles Inderjeeth, Minghao Zheng, Ralph Martins Jan 2023

Elevated Plasma Sclerostin Is Associated With High Brain Amyloid-B Load In Cognitively Normal Older Adults, Jun Yuan, Steve Pedrini, Rohith Thota, James Doecke, Pratishtha Chatterjee, Hamid R. Sohrabi, Charlotte E. Teunissen, Inge M. W. Verberk, Erik Stoops, Hugo Vanderstichele, Bruno P. Meloni, Christopher Mitchell, Stephanie Rainey-Smith, Kathryn Goozee, Andrew C. P. Tai, Nicholas Ashton, Henrik Zetterberg, Kaj Blennow, Junjie Gao, Delin Liu, Frank Mastaglia, Charles Inderjeeth, Minghao Zheng, Ralph Martins

Research outputs 2022 to 2026

Osteoporosis and Alzheimer’s disease (AD) mainly affect older individuals, and the possibility of an underlying link contributing to their shared epidemiological features has rarely been investigated. In the current study, we investigated the association between levels of plasma sclerostin (SOST), a protein primarily produced by bone, and brain amyloid-beta (A ) load, a pathological hallmark of AD. The study enrolled participants meeting a set of screening inclusion and exclusion criteria and were stratified into A − (n = 65) and A + (n = 35) according to their brain A load assessed using A -PET (positron emission tomography) imaging. Plasma …


Tackling Dementia Together Via The Australian Dementia Network (Adnet): A Summary Of Initiatives, Progress And Plans, Sharon L. Naismith, Johannes C. Michaelian, Cherry Santos, Inga Mehrani, Joanne Robertson, Kasey Wallis, Xiaoping Lin, Stephanie A. Ward, Ralph Martins, Colin L. Masters, Michael Breakspear, Susannah Ahern, Jurgen Fripp, Peter R. Schofield, Perminder S. Sachdev, Christopher C. Rowe Jan 2023

Tackling Dementia Together Via The Australian Dementia Network (Adnet): A Summary Of Initiatives, Progress And Plans, Sharon L. Naismith, Johannes C. Michaelian, Cherry Santos, Inga Mehrani, Joanne Robertson, Kasey Wallis, Xiaoping Lin, Stephanie A. Ward, Ralph Martins, Colin L. Masters, Michael Breakspear, Susannah Ahern, Jurgen Fripp, Peter R. Schofield, Perminder S. Sachdev, Christopher C. Rowe

Research outputs 2022 to 2026

In 2018, the Australian Dementia Network (ADNeT) was established to bring together Australia's leading dementia researchers, people with living experience and clinicians to transform research and clinical care in the field. To address dementia diagnosis, treatment, and care, ADNeT has established three core initiatives: the Clinical Quality Registry (CQR), Memory Clinics, and Screening for Trials. Collectively, the initiatives have developed an integrated clinical and research community, driving practice excellence in this field, leading to novel innovations in diagnostics, clinical care, professional development, quality and harmonization of healthcare, clinical trials, and translation of research into practice. Australia now has a national …


Ketone Bodies Mediate Alterations In Brain Energy Metabolism And Biomarkers Of Alzheimer’S Disease, Matin Ramezani, Malika Fernando, Shaun Eslick, Prita R. Asih, Sina Shadfar, Ekanayaka M. S. Bandara, Heidi Hillebrandt, Silochna Meghwar, Maryam Shahriari, Pratishtha Chatterjee, Rohith Thota, Cintia B. Dias, Manohar L. Garg, Ralph N. Martins Jan 2023

Ketone Bodies Mediate Alterations In Brain Energy Metabolism And Biomarkers Of Alzheimer’S Disease, Matin Ramezani, Malika Fernando, Shaun Eslick, Prita R. Asih, Sina Shadfar, Ekanayaka M. S. Bandara, Heidi Hillebrandt, Silochna Meghwar, Maryam Shahriari, Pratishtha Chatterjee, Rohith Thota, Cintia B. Dias, Manohar L. Garg, Ralph N. Martins

Research outputs 2022 to 2026

Alzheimer’s disease (AD) is the most common form of dementia. AD is a progressive neurodegenerative disorder characterized by cognitive dysfunction, including learning and memory deficits, and behavioral changes. Neuropathology hallmarks of AD such as amyloid beta () plaques and neurofibrillary tangles containing the neuron-specific protein tau is associated with changes in fluid biomarkers including A , phosphorylated tau (p-tau)-181, p-tau 231, p-tau 217, glial fibrillary acidic protein (GFAP), and neurofilament light (NFL). Another pathological feature of AD is neural damage and hyperactivation of astrocytes, that can cause increased pro-inflammatory mediators and oxidative stress. In addition, reduced brain glucose metabolism and …


The Effects Of Cognitive-Linguistic Interventions To Treat Aphasia In The First 90 Days Post-Stroke: A Systematic Review, Emily Eley, Maayken Van Den Berg, Miranda L. Rose, John E. Pierce, Abby Foster, Edwina Lamborn, Sarah D’Souza, Erin Godecke, Lucette Lanyon, Ciara Shiggins, Ian Kneebone, Caroline Baker Jan 2023

The Effects Of Cognitive-Linguistic Interventions To Treat Aphasia In The First 90 Days Post-Stroke: A Systematic Review, Emily Eley, Maayken Van Den Berg, Miranda L. Rose, John E. Pierce, Abby Foster, Edwina Lamborn, Sarah D’Souza, Erin Godecke, Lucette Lanyon, Ciara Shiggins, Ian Kneebone, Caroline Baker

Research outputs 2022 to 2026

Background: Cognitive-linguistic interventions for aphasia are behavioural-based approaches to therapy that aim to treat language impairment skills post-acquired brain injury. The purpose of cognitive-linguistic intervention is to restore and rehabilitate language impairment skills through targeting phonologic, semantic and syntactic systems, which may support goals to improve everyday communication. Aims: The aim of this systematic review was to investigate the effects of cognitive-linguistic interventions on language processing for aphasia in the first 90 days post-stroke. Secondary aims include the investigation of the effects of these interventions on functional communication and quality of life. Methods: A systematic search was conducted across six …


The Relationships Between Multidimensional Sleep Health And Work Productivity In Individuals With Neurological Conditions, Mitchell Turner, Manja Laws, Madeline Griffiths, Kate Turner, Leah Dempsey, Simon M. Laws, Travis Cruickshank Jan 2023

The Relationships Between Multidimensional Sleep Health And Work Productivity In Individuals With Neurological Conditions, Mitchell Turner, Manja Laws, Madeline Griffiths, Kate Turner, Leah Dempsey, Simon M. Laws, Travis Cruickshank

Research outputs 2022 to 2026

Numerous studies have reported the negative impacts of poor sleep on work productivity in the general population. However, despite the known sleep issues that individuals living with neurological conditions experience, no study has explored its impact on their work productivity. Sleep health is a concept that includes multiple domains of sleep, measured with a combination of objective and subjective measures. Therefore, this study aimed to ascertain the associations between sleep health and its domains and work productivity in individuals with neurological conditions. Sleep health domains were determined through actigraphy data collected over 1 week and sleep questionnaires. Work productivity was …