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Full-Text Articles in Medical Specialties

Evaluation Of Respiratory Function Using Blood Gas Parameters In Yucatan Minipigs Following Spinal Cord Injury, Jackson Gallagher, Monique Morgan, Chase Knibbe, Destiny Gibson, Maxwell Boakye Sep 2022

Evaluation Of Respiratory Function Using Blood Gas Parameters In Yucatan Minipigs Following Spinal Cord Injury, Jackson Gallagher, Monique Morgan, Chase Knibbe, Destiny Gibson, Maxwell Boakye

The Cardinal Edge

There are approximately 17,810 new spinal cord injuries (SCI) in the U.S. each year [1]. Physical damage to the spinal cord has the potential to interfere with normal motor, sensory, and/or autonomic function, such as impairment of the respiratory system. In fact, respiratory insufficiency is the number one cause of mortality and morbidity after SCI. The more rostral the injury, the more likely there will be disruption to normal ventilation (generally rostral to T6) [2]. To conduct relevant preclinical research, it has been shown that large animal models, such as the Yucatan minipig, have a better success rate of translating …


Transcranial Magnetic Stimulation (Tms) Seeded Tractography Provides Superior Prediction Of Eloquence Compared To Anatomic Seeded Tractography, Matthew Muir, Sarah Prinsloo, Hayley Michener, Arya Shetty, Dhiego Chaves De Almeida Bastos, Jeffrey Traylor, Chibawanye Ene, Sudhakar Tummala, Vinodh A Kumar, Sujit S Prabhu Sep 2022

Transcranial Magnetic Stimulation (Tms) Seeded Tractography Provides Superior Prediction Of Eloquence Compared To Anatomic Seeded Tractography, Matthew Muir, Sarah Prinsloo, Hayley Michener, Arya Shetty, Dhiego Chaves De Almeida Bastos, Jeffrey Traylor, Chibawanye Ene, Sudhakar Tummala, Vinodh A Kumar, Sujit S Prabhu

Faculty, Staff and Student Publications

BACKGROUND: For patients with brain tumors, maximizing the extent of resection while minimizing postoperative neurological morbidity requires accurate preoperative identification of eloquent structures. Recent studies have provided evidence that anatomy may not always predict eloquence. In this study, we directly compare transcranial magnetic stimulation (TMS) data combined with tractography to traditional anatomic grading criteria for predicting permanent deficits in patients with motor eloquent gliomas.

METHODS: We selected a cohort of 42 glioma patients with perirolandic tumors who underwent preoperative TMS mapping with subsequent resection and intraoperative mapping. We collected clinical outcome data from their chart with the primary outcome being …


Bridging Thrombolysis In Atrial Fibrillation Stroke Is Associated With Increased Hemorrhagic Complications Without Improved Outcomes, Feras Akbik, Ali Alawieh, Laurie Dimisko, Brian M. Howard, C Michael Cawley, Frank C. Tong, Fadi Nahab, Owen B. Samuels, Ilko Maier, Wuwei Feng, Nitin Goyal, Robert M. Starke, Ansaar Rai, Kyle M. Fargen, Marios N. Psychogios, Pascal Jabbour, Reade De Leacy, Saleh G. Keyrouz, Travis M. Dumont, Peter Kan, Jan Liman, Adam S. Arthur, Stacey Q. Wolfe, J. Mocco, Roberto Javier Crosa, W Christopher Fox, Benjamin Gory, Alejandro M. Spiotta, Jonathan A. Grossberg Sep 2022

Bridging Thrombolysis In Atrial Fibrillation Stroke Is Associated With Increased Hemorrhagic Complications Without Improved Outcomes, Feras Akbik, Ali Alawieh, Laurie Dimisko, Brian M. Howard, C Michael Cawley, Frank C. Tong, Fadi Nahab, Owen B. Samuels, Ilko Maier, Wuwei Feng, Nitin Goyal, Robert M. Starke, Ansaar Rai, Kyle M. Fargen, Marios N. Psychogios, Pascal Jabbour, Reade De Leacy, Saleh G. Keyrouz, Travis M. Dumont, Peter Kan, Jan Liman, Adam S. Arthur, Stacey Q. Wolfe, J. Mocco, Roberto Javier Crosa, W Christopher Fox, Benjamin Gory, Alejandro M. Spiotta, Jonathan A. Grossberg

Department of Neurosurgery Faculty Papers

BACKGROUND: Atrial fibrillation (AF) associated ischemic stroke is associated with worse functional outcomes, less effective recanalization, and increased rates of hemorrhagic complications after intravenous thrombolysis (IVT). Conversely, AF is not associated with hemorrhagic complications or functional outcomes in patients undergoing mechanical thrombectomy (MT). This differential effect of MT and IVT in AF associated stroke raises the question of whether bridging thrombolysis increases hemorrhagic complications in AF patients undergoing MT.

METHODS: This international cohort study of 22 comprehensive stroke centers analyzed patients with large vessel occlusion (LVO) undergoing MT between June 1, 2015 and December 31, 2020. Patients were divided into …


Identification Of Risk Genes For Alzheimer’S Disease By Gene Embedding, Yashwanth Lagisetty, Thomas Bourquard, Ismael Al-Ramahi, Carl Grant Mangleburg, Samantha Mota, Shirin Soleimani, Joshua M Shulman, Juan Botas, Kwanghyuk Lee, Olivier Lichtarge Sep 2022

Identification Of Risk Genes For Alzheimer’S Disease By Gene Embedding, Yashwanth Lagisetty, Thomas Bourquard, Ismael Al-Ramahi, Carl Grant Mangleburg, Samantha Mota, Shirin Soleimani, Joshua M Shulman, Juan Botas, Kwanghyuk Lee, Olivier Lichtarge

Duncan NRI Faculty and Staff Publications

Most disease-gene association methods do not account for gene-gene interactions, even though these play a crucial role in complex, polygenic diseases like Alzheimer’s disease (AD). To discover new genes whose interactions may contribute to pathology, we introduce GeneEMBED. This approach compares the functional perturbations induced in gene interaction network neighborhoods by coding variants from disease versus healthy subjects. In two independent AD cohorts of 5,169 exomes and 969 genomes, GeneEMBED identified novel candidates. These genes were differentially expressed in post mortem AD brains and modulated neurological phenotypes in mice. Four that were differentially overexpressed and modified neurodegeneration in vivo are …


A Rare Case Of Pembrolizumab Associated Encephalopathy, Sijan Basnet, Rajanbir Singh, Biswaraj Tharu, Tushar Pawar, Garima Basnet Sep 2022

A Rare Case Of Pembrolizumab Associated Encephalopathy, Sijan Basnet, Rajanbir Singh, Biswaraj Tharu, Tushar Pawar, Garima Basnet

Journal of Community Hospital Internal Medicine Perspectives

We present a unique case of a 55-year-old man with confusion thought to be due to pembrolizumab which he was receiving for renal cell carcinoma. His workup for other possible etiologies for encephalopathy was negative. He was treated with high dose intravenous methylprednisolone followed by prednisone taper and intravenous immunoglobulin with gradual improvement in his mentation.


Retroperitoneal Ancient Neurilemmoma: A Nervous Rarity., Vaidehi Mendpara, Sweta Sahu, Devarsh N. Shaw, Subhangi Parmar, Tanveer Ahamad Shaik, Swastika Sadhai, Mukesh Pancholi Sep 2022

Retroperitoneal Ancient Neurilemmoma: A Nervous Rarity., Vaidehi Mendpara, Sweta Sahu, Devarsh N. Shaw, Subhangi Parmar, Tanveer Ahamad Shaik, Swastika Sadhai, Mukesh Pancholi

Faculty and Staff Scholarship

Neurilemmomas are tumors of neural origin that comprise Schwann cell proliferation in a characteristic pattern. They are benign in nature. Ancient neurilemmomas are usually longstanding growths that exhibit degenerative features that could be mistaken for malignancy. We report a case of ancient neurilemmoma in a 70-year-old male patient in the retroperitoneal area. Retroperitoneal schwannomas are extremely uncommon along with ancient neurilemmoma features making it worth reporting


Transplantation Of Astrocytic Mitochondria Modulates Neuronal Antioxidant Defense And Neuroplasticity And Promotes Functional Recovery After Intracerebral Hemorrhage, Ryosuke Tashiro, Jesus Bautista-Garrido, Dan Ozaki, Guanghua Sun, Lidiya Obertas, Alexis S Mobley, Gab Seok Kim, Jaroslaw Aronowski, Joo Eun Jung Sep 2022

Transplantation Of Astrocytic Mitochondria Modulates Neuronal Antioxidant Defense And Neuroplasticity And Promotes Functional Recovery After Intracerebral Hemorrhage, Ryosuke Tashiro, Jesus Bautista-Garrido, Dan Ozaki, Guanghua Sun, Lidiya Obertas, Alexis S Mobley, Gab Seok Kim, Jaroslaw Aronowski, Joo Eun Jung

Faculty, Staff and Student Publications

Astrocytes release functional mitochondria (Mt) that play regulatory and prosurvival functions on entering adjacent cells. We recently demonstrated that these released Mts could enter microglia to promote their reparative/prophagocytic phenotype that assists in hematoma cleanup and neurological recovery after intracerebral hemorrhage (ICH). However, the relevance of astrocytic Mt transfer into neurons in protecting brain after ICH is unclear. Here, we found that ICH causes a robust increase in superoxide generation and elevated oxidative damage that coincides with loss of the mitochondrial enzyme manganese superoxide dismutase (Mn-SOD). The damaging effect of ICH was reversed by intravenous transplantation of astrocytic Mt, which …


Smart-Home Concept For Remote Monitoring Of Instrumental Activities Of Daily Living (Iadl) In Older Adults With Cognitive Impairment: A Proof Of Concept And Feasibility Study, Myeounggon Lee, Ram Kinker Mishra, Anmol Momin, Nesreen El-Refaei, Amir Behzad Bagheri, Michele K York, Mark E Kunik, Marc Derhammer, Borna Fatehi, James Lim, Rylee Cole, Gregory Barchard, Ashkan Vaziri, Bijan Najafi Sep 2022

Smart-Home Concept For Remote Monitoring Of Instrumental Activities Of Daily Living (Iadl) In Older Adults With Cognitive Impairment: A Proof Of Concept And Feasibility Study, Myeounggon Lee, Ram Kinker Mishra, Anmol Momin, Nesreen El-Refaei, Amir Behzad Bagheri, Michele K York, Mark E Kunik, Marc Derhammer, Borna Fatehi, James Lim, Rylee Cole, Gregory Barchard, Ashkan Vaziri, Bijan Najafi

Center on Aging Staff Publications

Assessment of instrumental activities of daily living (IADL) is essential for the diagnosis and staging of dementia. However, current IADL assessments are subjective and cannot be administered remotely. We proposed a smart-home design, called IADLSys, for remote monitoring of IADL. IADLSys consists of three major components: (1) wireless physical tags (pTAG) attached to objects of interest, (2) a pendant-sensor to monitor physical activities and detect interaction with pTAGs, and (3) an interactive tablet as a gateway to transfer data to a secured cloud. Four studies, including an exploratory clinical study with five older adults with clinically confirmed cognitive impairment, who …


Why Study Mechanisms Of Brain Stimulation Therapies? To Modulate The Right Neurons, In The Right Way, At The Right Time, Matthew J Mcginley, Steven T Lee Sep 2022

Why Study Mechanisms Of Brain Stimulation Therapies? To Modulate The Right Neurons, In The Right Way, At The Right Time, Matthew J Mcginley, Steven T Lee

Duncan NRI Faculty and Staff Publications

Clinical applications of vagus nerve stimulation (VNS) are burgeoning, but mechanistic work lags behind. In this issue of Neuron, Bowles and colleagues show that VNS timed with positive reinforcement improves motor learning and cortical function by a cholinergic mechanism.


Fighting For Recovery On Multiple Fronts: The Past, Present, And Future Of Clinical Trials For Spinal Cord Injury, Valerie A Dietz, Nolan Roberts, Katelyn Knox, Sherilynne Moore, Michael Pitonak, Chris Barr, Jesus Centeno, Scott Leininger, Kent C New, Peter Nowell, Matthew Rodreick, Cedric G Geoffroy, Argyrios Stampas, Jennifer N Dulin Sep 2022

Fighting For Recovery On Multiple Fronts: The Past, Present, And Future Of Clinical Trials For Spinal Cord Injury, Valerie A Dietz, Nolan Roberts, Katelyn Knox, Sherilynne Moore, Michael Pitonak, Chris Barr, Jesus Centeno, Scott Leininger, Kent C New, Peter Nowell, Matthew Rodreick, Cedric G Geoffroy, Argyrios Stampas, Jennifer N Dulin

Faculty, Staff and Student Publications

Through many decades of preclinical research, great progress has been achieved in understanding the complex nature of spinal cord injury (SCI). Preclinical research efforts have guided and shaped clinical trials, which are growing in number by the year. Currently, 1,149 clinical trials focused on improving outcomes after SCI are registered in the U.S. National Library of Medicine at ClinicalTrials.gov. We conducted a systematic analysis of these SCI clinical trials, using publicly accessible data downloaded from ClinicalTrials.gov. After extracting all available data for these trials, we categorized each trial according to the types of interventions being tested and the types of …


Erdheim-Chester Disease With Isolated Cns Involvement: A Systematic Review Of The Literature, Anam Haque, Carlos A Pérez, Thejasvi A Reddy, Rajesh K Gupta Sep 2022

Erdheim-Chester Disease With Isolated Cns Involvement: A Systematic Review Of The Literature, Anam Haque, Carlos A Pérez, Thejasvi A Reddy, Rajesh K Gupta

Faculty, Staff and Student Publications

Erdheim-Chester disease (ECD) is a rare, sporadic, non-Langerhans cell histiocytosis that can have various presentations and higher mortality in patients presenting with neurological symptoms. We performed a systematic review to investigate and chronicle the frequency of neurological manifestations, imaging findings, treatments, and outcomes in published ECD patients presenting with neurological symptoms. A PubMed literature search was conducted for articles (published between January 1980 and June 2021) on ECD cases presenting with neurological manifestations. We analyzed the data of 40 patients, including our patient. Cranial neuropathies and ataxia were the most frequent clinical manifestations. A total of 50% of the symptomatic …


A Potential Role For Substance P In West Nile Virus Neuropathogenesis, Shannon E Ronca, Sarah M Gunter, Rebecca Berry Kairis, Allison Lino, Jonathan Romero, Robia G Pautler, Alan Nimmo, Kristy O Murray Sep 2022

A Potential Role For Substance P In West Nile Virus Neuropathogenesis, Shannon E Ronca, Sarah M Gunter, Rebecca Berry Kairis, Allison Lino, Jonathan Romero, Robia G Pautler, Alan Nimmo, Kristy O Murray

Faculty, Staff and Students Publications

Of individuals who develop West Nile neuroinvasive disease (WNND), ~10% will die and >40% will develop long-term complications. Current treatment recommendations solely focus on supportive care; therefore, we urgently need to identify novel and effective therapeutic options. We observed a correlation between substance P (SP), a key player in neuroinflammation, and its receptor Neurokinin-1 (NK1R). Our study in a wild-type BL6 mouse model found that SP is upregulated in the brain during infection, which correlated with neuroinvasion and damage to the blood−brain barrier. Blocking the SP/NK1R interaction beginning at disease onset modestly improved survival and prolonged time to death in …


The Tfeb-Tgif1 Axis Regulates Emt In Mouse Epicardial Cells, Elena Astanina, Gabriella Doronzo, Davide Corà, Francesco Neri, Salvatore Oliviero, Tullio Genova, Federico Mussano, Emanuele Middonti, Edoardo Vallariello, Chiara Cencioni, Donatella Valdembri, Guido Serini, Federica Limana, Eleonora Foglio, Andrea Ballabio, Federico Bussolino Sep 2022

The Tfeb-Tgif1 Axis Regulates Emt In Mouse Epicardial Cells, Elena Astanina, Gabriella Doronzo, Davide Corà, Francesco Neri, Salvatore Oliviero, Tullio Genova, Federico Mussano, Emanuele Middonti, Edoardo Vallariello, Chiara Cencioni, Donatella Valdembri, Guido Serini, Federica Limana, Eleonora Foglio, Andrea Ballabio, Federico Bussolino

Duncan NRI Faculty and Staff Publications

Epithelial-mesenchymal transition (EMT) is a complex and pivotal process involved in organogenesis and is related to several pathological processes, including cancer and fibrosis. During heart development, EMT mediates the conversion of epicardial cells into vascular smooth muscle cells and cardiac interstitial fibroblasts. Here, we show that the oncogenic transcription factor EB (TFEB) is a key regulator of EMT in epicardial cells and that its genetic overexpression in mouse epicardium is lethal due to heart defects linked to impaired EMT. TFEB specifically orchestrates the EMT-promoting function of transforming growth factor (TGF) β, and this effect results from activated transcription of thymine-guanine-interacting …


Catatonia In The General Hospital: A Case Series Wading Through Diagnostic & Management Challenges, Shireen Najam, Marium Mansoor, Muhammad Yusuf Hafiz, Alviya Shafique, Ifrah Hambal, Banafsha Gul, Tania Nadeem Sep 2022

Catatonia In The General Hospital: A Case Series Wading Through Diagnostic & Management Challenges, Shireen Najam, Marium Mansoor, Muhammad Yusuf Hafiz, Alviya Shafique, Ifrah Hambal, Banafsha Gul, Tania Nadeem

Pakistan Journal of Neurological Sciences (PJNS)

Catatonia is a cluster of affective, behavioral, and motor symptoms. Its causes are multifactorial ranging from severe and untreated psychiatric illnesses to neurological diseases and other general medical conditions. It is estimated that 20% of catatonia causes are due to medical conditions out of which two thirds are due to an underlying neurological condition which might include encephalitis, neural injury, developmental disorders, structural brain pathology, or seizures. Symptoms of catatonia can wax and wane, fluctuating between the retarded and the excited type within hours making it more difficult to identify and diagnose. If left untreated, catatonia can lead to multiple …


Mr Textural Features (Radiomics) For Predicting Response To Treatment In Patients With Intracranial Tuberculoma: A Retrospective Cross-Sectional Study, Muhammad Awais, Shahmeer Khan, Mohammad Wasay, Muhammad Azeemuddin, Ayesha Shoukat, Hafsa Khan Sep 2022

Mr Textural Features (Radiomics) For Predicting Response To Treatment In Patients With Intracranial Tuberculoma: A Retrospective Cross-Sectional Study, Muhammad Awais, Shahmeer Khan, Mohammad Wasay, Muhammad Azeemuddin, Ayesha Shoukat, Hafsa Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: MR based radiomics can potentially response to treatment in intracranial tuberculoma, but very scarce literature is available in this regard. The purpose of this study was to determine whether MR based radiomic features can be used to predict response to antituberculosis (AT) treatment. Methods: Data of patients with intracranial tuberculomas who underwent MR imaging and AT treatment at our institution during the last 10 years was analyzed. In each case follow-up imaging performed at 6 months post initiation of treatment was reviewed to establish response to treatment. The textural analysis was performed by two consultant neuroradiologists, using …


Pediatric Stroke: A Review, Tipu Sultan Sep 2022

Pediatric Stroke: A Review, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objectives: Pediatric Stroke is a neurological disorder in which the patient suffers with two or more Pediatric stroke is a focal neurological deficit lasting more than 24 hours because of stenosis, occlusion or rupture of cerebral blood vessels. Variable etiological factors are involved ranging from cardiac, haematological, infectious, immune mediated to arteriopathies which is emerging as most important cause of arterial ischemic stroke in children. In this review article we will discuss paediatric stroke with its epidemiology, etiological factors in particular arteriopathies, diagnostic modalities, management protocols and outcome.

Methods: We searched stroke in Pubmed and found 15315 articles, …


Tele-Stroke Care In Pakistan, Nurose Karim Md Sep 2022

Tele-Stroke Care In Pakistan, Nurose Karim Md

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Temporal Lobe Epilepsy With Hippocampus Sclerosis: Prevalence, Etiology, And Treatment Options With Herbal Medicines, Muhammad Wasim, Mehr Musani, Hasan Salman Siddiqi, Saara Muddasir, Bushra Amin, Fazal Manzoor Arain Sep 2022

Temporal Lobe Epilepsy With Hippocampus Sclerosis: Prevalence, Etiology, And Treatment Options With Herbal Medicines, Muhammad Wasim, Mehr Musani, Hasan Salman Siddiqi, Saara Muddasir, Bushra Amin, Fazal Manzoor Arain

Pakistan Journal of Neurological Sciences (PJNS)

Background and objectives: Epilepsy is a neurological disorder in which the patient suffers with two or more unprovoked seizures. It is one of the most common neurological disorders worldwide, affecting more than 70 million people. Currently various modes of effective treatments are available, but still there are many cases that remain drug resistant. Hence, there is a need to explore herbal medications for the treatment of drug resistant epilepsy.

Methods: Recent reviews and research articles (2000-2022) from PubMed and Google Scholar have been explored.

Review: Based on etiology, there are six categories of epilepsy: Genetic, Structural, Metabolic, Immune, Infectious, and …


Predictors Of Early Seizures After First Acute Stroke, Malik Muhammad Adil, Sumaira Nabi, Maryam Khalil, Zeeshan Munawar, Nayab Aslam, Zaid Waqar Sep 2022

Predictors Of Early Seizures After First Acute Stroke, Malik Muhammad Adil, Sumaira Nabi, Maryam Khalil, Zeeshan Munawar, Nayab Aslam, Zaid Waqar

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: There is a lack of local data regarding the frequency and predictors of early seizures after stroke. The objective of this study was to determine the frequency of early seizures after stroke and identify the predictors which lead to them after first acute stroke.

Methods: This cross-sectional observational study was conducted in the Department of Neurology, Pakistan Institute of Medical Sciences, Islamabad from October 2021 to June 2022. A total of 310 consecutive eligible patients of acute stroke were recruited. Key inclusion criteria included any patient of >20 years of age with confirmed diagnosis of stroke on …


Hypodensities Within Hematoma Predict Outcome After Spontaneous Intracerebral Hemorrhage, Maryam Khalil, Sumaira Nabi, Amjad Mahmood Khan, Zeeshan Munawar, Samar Naik, Zaid Waqar, Malik Muhammad Adil, Mazhar Badshah Sep 2022

Hypodensities Within Hematoma Predict Outcome After Spontaneous Intracerebral Hemorrhage, Maryam Khalil, Sumaira Nabi, Amjad Mahmood Khan, Zeeshan Munawar, Samar Naik, Zaid Waqar, Malik Muhammad Adil, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Radial nerve is injured due to a variety of reasons. The objective of this study was to determine the clinical spectrum, risk factors and electrophysiologic aspect of radial nerve injury presenting to a tertiary care hospital in Lahore.

Methods: This descriptive prospective cross-sectional study was conducted at department of Neurology, Mayo hospital Lahore from July 2022 to December 2022 and comprised patients with isolated radial nerve injury on the basis of history and clinical examination regardless of their gender, above 15 years of age. NCS/EMG was done on a Japanese machine Nihon Kohden by an expert as …


Experience With Anti Nmda Receptor Antibody Encephalitis In A Tertiary Care Hospital In Pakistan, Haris Majid Rajput, Zaid Waqar, Muhammad Hassan, Neelma Naz Khattak, Umair Hassan, Iqra Athar, Mazhar Badshah Badshah Sep 2022

Experience With Anti Nmda Receptor Antibody Encephalitis In A Tertiary Care Hospital In Pakistan, Haris Majid Rajput, Zaid Waqar, Muhammad Hassan, Neelma Naz Khattak, Umair Hassan, Iqra Athar, Mazhar Badshah Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Anti NMDA receptor (Anti-NMDAR) antibody encephalitis is an increasingly recognized form of auto immune encephalitis. The objective of this study was to determine the demographic, clinical and laboratory factors associated with this syndrome.

Methods: All cases presenting to neurology, Pakistan institute of medical sciences, Islamabad, from June 2017 till January 2020 were reviewed retrospectively. Patients fulfilling the diagnostic criteria for Anti NMDA receptor (Anti-NMDAR) antibody encephalitis were included. All patients were evaluated with cerebrospinal fluid (CSF)routine examination, MRI brain, autoimmune encephalitis profile and for presence of oligoclonal bands (OCB) in CSF. Statistical analysis was done using SPSS …


Kctd7 Deficiency Induces Myoclonic Seizures Associated With Purkinje Cell Death And Microvascular Defects, Justine H Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A Massey, Danye Jiang, Joy Zhou, Roy V Sillitoe, Jeffrey L Noebels, Melanie A Samuel Sep 2022

Kctd7 Deficiency Induces Myoclonic Seizures Associated With Purkinje Cell Death And Microvascular Defects, Justine H Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A Massey, Danye Jiang, Joy Zhou, Roy V Sillitoe, Jeffrey L Noebels, Melanie A Samuel

Duncan NRI Faculty and Staff Publications

Mutations in the potassium channel tetramerization domain-containing 7 (KCTD7) gene are associated with a severe neurodegenerative phenotype characterized by childhood onset of progressive and intractable myoclonic seizures accompanied by developmental regression. KCTD7-driven disease is part of a large family of progressive myoclonic epilepsy syndromes displaying a broad spectrum of clinical severity. Animal models of KCTD7-related disease are lacking, and little is known regarding how KCTD7 protein defects lead to epilepsy and cognitive dysfunction. We characterized Kctd7 expression patterns in the mouse brain during development and show that it is selectively enriched in specific regions as the brain matures. We further …


Anti-Nmda Receptor Encephalitis Presenting With Severe Episodic Hypertension: A Case Report, Tehreem Arshad, Musarrat Hussain, Abdul Wahab Yousafzai, Arsalan Ahmad Sep 2022

Anti-Nmda Receptor Encephalitis Presenting With Severe Episodic Hypertension: A Case Report, Tehreem Arshad, Musarrat Hussain, Abdul Wahab Yousafzai, Arsalan Ahmad

Pakistan Journal of Neurological Sciences (PJNS)

Anti-N-methyl-D-aspartate receptor (Anti-NMDAR) encephalitis is one of the most commonly emerging autoimmune encephalitis in children and young adults in recent years. Clinical manifestations range from prodromal symptoms to seizures, movement disorder, psychiatric manifestations, cognitive/speech impairment, and autonomic dysfunction. Our case presented with initial symptoms of severe episodic hypertension, sweating, agitation, and tachycardia. She received early care for pheochromocytoma and panic disorder in Qatar, but there was no relief. Three weeks later, she presented in our emergency room with seizures, cognitive/speech impairment, and orofacial dyskinesia. Electroencephalography (EEG) revealed right hemispheric delta activity and cerebrospinal fluid CSF anti-NMDA Receptor IgG was positive. …


Clinical Spectrum, Risk Factors And Electrophysiologic Aspect Of Radial Nerve Injury, Arfah Kanwal, Safia Bano, Ubaid Ullah, Ahsan Numan Sep 2022

Clinical Spectrum, Risk Factors And Electrophysiologic Aspect Of Radial Nerve Injury, Arfah Kanwal, Safia Bano, Ubaid Ullah, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective: Radial nerve is injured due to a variety of reasons. The objective of this study was to determine the clinical spectrum, risk factors and electrophysiologic aspect of radial nerve injury presenting to a tertiary care hospital in Lahore.

Methods: This descriptive prospective cross-sectional study was conducted at department of Neurology, Mayo hospital Lahore from July 2022 to December 2022 and comprised patients with isolated radial nerve injury on the basis of history and clinical examination regardless of their gender, above 15 years of age. NCS/EMG was done on a Japanese machine Nihon Kohden by an expert …


Multiple Sclerosis In Pakistan: Collaborative Working To Improve Care, Sarah Razaq, Fahim Anwar Sep 2022

Multiple Sclerosis In Pakistan: Collaborative Working To Improve Care, Sarah Razaq, Fahim Anwar

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Retraction Notice, Editorial Team Pjns Sep 2022

Retraction Notice, Editorial Team Pjns

Pakistan Journal of Neurological Sciences (PJNS)

Retraction Notice

Khan MI, Khan JI, Ahmed SI, Ali S. The epidemiology of stroke in a developing country (Pakistan). Pak J Neurol Sci. 2018;13(3):30-44.

A reader brought to our attention that the article titled “The epidemiology of stroke in a developing country (Pakistan)”, published in Volume 13, Issue 3, of Pakistan Journal of Neurological Sciences (PJNS) was a redundant (duplicate) publication. We investigated this complaint and found out that prior to its submission to PJNS on February 11 2018, this article had already been published almost verbatim in Journal of Neurology & Stroke on January 23, 2018.


Future Opportunities For Research In Rescue Treatments, James W. Wheless, Daniel Friedman, Gregory L. Krauss, Vikram R. Rao, Michael R Sperling, Enrique Carrazana, Adrian L. Rabinowicz Sep 2022

Future Opportunities For Research In Rescue Treatments, James W. Wheless, Daniel Friedman, Gregory L. Krauss, Vikram R. Rao, Michael R Sperling, Enrique Carrazana, Adrian L. Rabinowicz

Department of Neurology Faculty Papers

Clinical studies of rescue medications for seizure clusters are limited and are designed to satisfy regulatory requirements, which may not fully consider the needs of the diverse patient population that experiences seizure clusters or utilize rescue medication. The purpose of this narrative review is to examine the factors that contribute to, or may influence the quality of, seizure cluster research with a goal of improving clinical practice. We address five areas of unmet needs and provide advice for how they could enhance future trials of seizure cluster treatments. The topics addressed in this article are: (1) unaddressed end points to …


Long-Term Effectiveness Of Ivig Maintenance Therapy In 36 Patients With Gad Antibody-Positive Stiff-Person Syndrome., Jessica Yi, Marinos Dalakas Sep 2022

Long-Term Effectiveness Of Ivig Maintenance Therapy In 36 Patients With Gad Antibody-Positive Stiff-Person Syndrome., Jessica Yi, Marinos Dalakas

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: IVIg has been the preferred immunotherapy in stiff-person syndrome (SPS) based on a 3-month controlled trial, but whether it is also effective in inducing long-term benefits or arresting disease progression is unknown. The information is needed because SPS is a progressively disabling disease and IVIg is liberally used as chronic therapy without efficacy data. The present study explores the long-term effects of IVIg in the largest cohort of well-characterized patients with SPS followed by the same clinicians over 10 years.

METHODS: Data of 36 patients (32 glutamic acid decarboxylase [GAD] positive), diagnosed and treated with monthly maintenance …


The Impact Of Intraoperative Image-Guidance Modalities And Neurophysiologic Monitoring In The Safety Of Sacroiliac Fusions., Thiago Montenegro, Christian Hoelscher, Md, Kevin Hines, Md, Sara Thalheimer, Caio Matias, Bryan Wilent, James Harrop, Joshua E. Heller Sep 2022

The Impact Of Intraoperative Image-Guidance Modalities And Neurophysiologic Monitoring In The Safety Of Sacroiliac Fusions., Thiago Montenegro, Christian Hoelscher, Md, Kevin Hines, Md, Sara Thalheimer, Caio Matias, Bryan Wilent, James Harrop, Joshua E. Heller

Department of Neurosurgery Faculty Papers

STUDY DESIGN: Retrospective observational cohort.

OBJECTIVE: A review of efficiency and safety of fluoroscopy and stereotactic navigation system for minimally invasive (MIS) Sacroiliac (SI) fusion through a lateral technique.

METHODS: Retrospective analysis of an observational cohort of 96 patients greater than 18 years old, that underwent MIS SI fusion guided by fluoroscopy or navigation between January 2013 and April 2020 with a minimum of 3 months follow-up. Intraoperative neuromonitoring (IONM) with a variable combination of electromyography (EMG), somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) was also utilized.

RESULTS: The overall complication rate in the study was 9.4%, and …


‘Fly-Ing’ From Rare To Common Neurodegenerative Disease Mechanisms, Mengqi Ma, Matthew J Moulton, Shenzhao Lu, Hugo J Bellen Sep 2022

‘Fly-Ing’ From Rare To Common Neurodegenerative Disease Mechanisms, Mengqi Ma, Matthew J Moulton, Shenzhao Lu, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

Genome sequencing advances have enabled researchers and clinicians to probe vast numbers of human variants to distinguish pathogenic from benign variation. Model organisms have been critical in variant assessment and delineating molecular mechanisms of some of the diseases caused by these variants. The fruit fly, Drosophila melanogaster, has played a valuable role in this endeavor, taking advantage of its genetic technologies and established biological knowledge. In this review, we highlight the utility of the fly in studying the function of genes associated with rare neurological diseases that have led to a better understanding of common disease mechanisms. We emphasize …