Neurology Commons^™

International Workshop: What Is Needed To Ensure Outcome Measures For Rett Syndrome Are Fit-For-Purpose For Clinical Trials? June 7, 2023, Nashville, Usa, Jenny Downs, Dominique C Pichard, Walter E Kaufmann, Joseph P Horrigan, Melissa Raspa, Gillian Townend, Eric D Marsh, Helen Leonard, Kathleen Motil, Andrew C Dietz, Nupur Garg, Amitha Ananth, Breanne Byiers, Sarika Peters, Christopher Beatty, Frank Symons, Aleksandra Jacobs, James Youakim, Bernhard Suter, Paramola Santosh, Jeffrey L Neul, Tim A Benke

Faculty, Staff and Students Publications

INTRODUCTION: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

METHODS: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted. The clinical outcome assessments measured clinical severity, functional abilities, comorbidities and quality of life, and …

Irregular Assessment Times In Pragmatic Randomized Clinical Trials, Andrea Apter, Frances K Barg, Sanjib Basu, Alex Federman, Winifred J Hamilton, Jerry A Krishnan, Tianjing Li, Russell Localio, Christine Pindle, Daniel O Scharfstein, Justin D Smith, Kaharu Sumino

Faculty, Staff and Students Publications

Deviation from protocolized assessment times is commonplace in pragmatic randomized clinical trials. Working with a stakeholder advisory board for a Patient-Centered Outcomes Research Institute®-funded project on statistical methods for handling potential biases introduced by irregular assessment times, we identified reasons for off-schedule or missed assessments. We used the Consolidated Framework for Implementation Research 2.0 to organize our findings. We conjectured that timely completion of outcome assessments is a function of multiple determinants, only some related to participants' health status. We identified potential determinants that can be modified during the protocol design stage and can be reassessed and mitigated during trial …

Womb, Gravity, And Space: Shifting Towards The Cerebellum-Basal Ganglia Paradigm In Dystonia, Diego Iacono

Department of Neurology Faculty Papers

No abstract provided.

Epilepsy Therapies Symposium | Do We Really "Outgrow" Seizures?, Adam Ostendorf, Genna J Waldman, Lara Jehi, Mohammed Ilyas, Dean Naritoku, Alica M Goldman

Faculty, Staff and Students Publications

Initiation and maintenance of antiseizure therapy can be relatively straightforward in most patients. Depending on epilepsy type, patients may be more or less likely to enter remission or a resolution of their epilepsy and the International League Against Epilepsy developed clinically guiding definitions in this regard. The mechanisms by which resolution or remission are achieved are poorly understood which complicates clinical decision making and risk estimate for future seizure relapse. The impetus for the maintenance of medical therapy in a seizure-free patient is also age-dependent. In children, one ought to consider the unknown effects of antiseizure medications on the developing …

Age-Related Tfeb Downregulation In Proximal Tubules Causes Systemic Metabolic Disorders And Occasional Apolipoprotein A4-Related Amyloidosis, Jun Nakamura, Takeshi Yamamoto, Yoshitsugu Takabatake, Tomoko Namba-Hamano, Atsushi Takahashi, Jun Matsuda, Satoshi Minami, Shinsuke Sakai, Hiroaki Yonishi, Shihomi Maeda, Sho Matsui, Hideaki Kawai, Isao Matsui, Tadashi Yamamuro, Ryuya Edahiro, Seiji Takashima, Akira Takasawa, Yukinori Okada, Tamotsu Yoshimori, Andrea Ballabio, Yoshitaka Isaka

Duncan NRI Faculty and Staff Publications

With the aging of society, the incidence of chronic kidney disease (CKD), a common cause of death, has been increasing. Transcription factor EB (TFEB), the master transcriptional regulator of the autophagy/lysosomal pathway, is regarded as a promising candidate for preventing various age-related diseases. However, whether TFEB in the proximal tubules plays a significant role in elderly patients with CKD remains unknown. First, we found that nuclear TFEB localization in proximal tubular epithelial cells (PTECs) declined with age in both mice and humans. Next, we generated PTEC-specific Tfeb-deficient mice and bred them for up to 24 months. We found that TFEB …

Return To Driving For Clients With Tbi: A Guide For Caregivers To Navigate Emotional Barriers Experienced By Clients, Brianna Dorsey, Mary Greer

Fall 2024 OTD Capstone Symposium

The project describes the building of an online resource for caregivers to have easily accessible resources regarding information about brain injuries, emotional barriers, and return to driving programs. Each section provides further resources for caregivers and is intended to help improve their care and medical literacy.

Mild Traumatic Brain Injuries In Justice-Involved Individuals And Executive Function Consequences On Transition And Reentry Into The Community ​, Alaina L. Randerson, Michael Sutcliffe, Cassandra Nelson, Ariana Gonzalez

Fall 2024 OTD Capstone Symposium

The United States has the highest documented incarceration rate in the world (Carson, 2022), with an increasing number of justice-involved individuals (JII) potentially affected by mild traumatic brain injury (mTBI). Despite the high prevalence of mTBIs in the general population, limited research exists on the prevalence and impact of mTBIs in JII. Preliminary evidence suggests that the prevalence of mTBIs in incarcerated individuals is 50 times higher than in the general public (Siegler et al., 2017). This study aimed to explore the lived experiences of JII with mTBI, focusing on the origin of mTBIs, executive dysfunction, and the occupational barriers …

Macrowire For Intracranial Thrombectomy: An Early Experience Of A New Device And Technique For Anterior Circulation Large Vessel Occlusion Stroke, Kaustubh Limaye, Sami Al Kasab, Jaidevsinh Dolia, Mohamad Ezzeldin, Daniel Vela Duarte, Vinodh Doss, Sourabh Lahoti, David Hasan, Alejandro Spiotta, Khaled Asi, Vasu Saini, Tapan Mehta, Ameer Hassan, Diogo Haussen, Dileep Yavagal, Jesse Jones, Omar Tanweer, Waleed Brinjikji

Faculty, Staff and Students Publications

BACKGROUND AND PURPOSE: Mechanical thrombectomy (MT) has become the standard of care for treatment of acute ischemic stroke secondary to large vessel occlusion up to 24 h from the last known normal time. With ADAPT and SOLUMBRA techniques, classically, a large bore aspiration catheter is delivered over a microcatheter and microwire crossing the clot to perform thrombectomy. Recently, a novel macrowire (Colossus 035 in.) has been introduced as a potential alternative to the use of microwire-microcatheter to allow the delivery of the aspiration catheter (ID = 0.070 in. up to 0.088 in.) over a macrowire alone.

OBJECTIVE: To test the …

Artificial Intelligence-Based Methodologies For Early Diagnostic Precision And Personalized Therapeutic Strategies In Neuro-Ophthalmic And Neurodegenerative Pathologies, Rahul Kumar, Ethan Waisberg, Joshua Ong, Phani Paladugu, Dylan Amiri, Jeremy Saintyl, Jahnavi Yelamanchi, Robert Nahouraii, Ram Jagadeesan, Alireza Tavakkoli

SKMC Student Presentations and Publications

Advancements in neuroimaging, particularly diffusion magnetic resonance imaging (MRI) techniques and molecular imaging with positron emission tomography (PET), have significantly enhanced the early detection of biomarkers in neurodegenerative and neuro-ophthalmic disorders. These include Alzheimer's disease, Parkinson's disease, multiple sclerosis, neuromyelitis optica, and myelin oligodendrocyte glycoprotein antibody disease. This review highlights the transformative role of advanced diffusion MRI techniques-Neurite Orientation Dispersion and Density Imaging and Diffusion Kurtosis Imaging-in identifying subtle microstructural changes in the brain and visual pathways that precede clinical symptoms. When integrated with artificial intelligence (AI) algorithms, these techniques achieve unprecedented diagnostic precision, facilitating early detection of neurodegeneration and …

The Revised Cdc Chronic Pain Guidelines And Payer Opioid Analgesic Policies In Michigan, Victoria Tutag Lehr, Cynthia L. Arfken

Michigan Journal of Public Health

Abstract

The 2016 publication of A Guideline for Prescribing Opioids for Chronic Pain by the Centers for Disease Control and Prevention motivated commercial and Medicaid payers to restrict their opioid prescribing policies including the imposition of hard limits on opioid daily dosages and duration. One result of these policies was an increase in abrupt opioid discontinuation and rapid tapering events for patients receiving long-term opioid therapy. Responding to this misapplication of the 2016 guideline, the 2022 revised guidelines emphasized individualized opioid therapy and exclusion of certain chronic diseases. However, it is not known if the payers changed their policies to …

Unilateral Hemicraniectomy With Titanium Cranioplasty For The Treatment Of High Intracranial Pressure In A Pediatric Patient With Camurati-Engelmann Disease: Illustrative Case, Roboan Guillen-Arguello, Nicholas Sader, J. Gordon Mccomb

School of Medicine Faculty Publications

BACKGROUND Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting. OBSERVATIONS The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms. LESSONS Unilateral hemicraniectomy with titanium cranioplasty is a feasible surgical treatment for CED in pediatric patients with medically refractory increased ICP and papilledema.

Identification Of An Early Subset Of Cerebellar Nuclei Neurons In Mice, Maryam Rahimi-Balaei, Shayan Amiri, Thomas Lamonerie, Sih-Rong Wu, Huda Y Zoghbi, G Giacomo Consalez, Daniel Goldowitz, Hassan Marzban

Duncan NRI Faculty and Staff Publications

Cerebellar nuclei (CN) neurons serve as the primary output of the cerebellum and originate from the cerebellar primordium at early stages of cerebellar development. These neurons are diverse, integrating information from the cerebellar cortex and relaying it to various brain regions. Employing various methodologies, we have characterized a specific subset of CN neurons that do not originate from the rhombic lip or ventricular zone of the cerebellar primordium. Embryos were collected at early stages of development and processed for immunohistochemistry (IHC), western blotting, in situ hybridization (ISH), embryonic culture, DiI labeling, and flow cytometry analysis (FCM). Our findings indicate that …

Global Impact Of Aging On The Hemodynamic Response Function In The Gray Matter Of Human Cerebral Cortex, Nooshin J Fesharaki, Amanda Taylor, Keisjon Mosby, Ruosha Li, Jung Hwan Kim, David Ress

Faculty, Staff and Students Publications

In functional magnetic resonance imaging, the hemodynamic response function (HRF) is a stereotypical response to local changes in cerebral hemodynamics and oxygen metabolism due to briefly (< 4 s) evoked neural activity. Accordingly, the HRF is often used as an impulse response with the assumption of linearity in data analysis. In cognitive aging studies, it has been very common to interpret differences in brain activation as age-related changes in neural activity. Contrary to this assumption, however, evidence has accrued that normal aging may also significantly affect the vasculature, thereby affecting cerebral hemodynamics and metabolism, confounding interpretation of fMRI cognitive aging studies. In this study, use was made of a multisensory task to evoke the HRF in ~87% of cerebral cortex in cognitively intact adults with ages ranging from 22 to 75 years. This widespread activation enabled us to investigate age trends in the spatial distributions of HRF characteristics within the majority of cortical gray matter, which we termed as global age trends. The task evoked both positive and negative HRFs, which were characterized using model-free parameters in native-space coordinates. We found significant global age trends in the distributions of HRF parameters in terms of both amplitudes (e.g., peak amplitude and contrast-to-noise ratio) and temporal dynamics (e.g., full-width-at-half-maximum). Our findings offer insight into how age-dependent changes affect neurovascular coupling and show promise for use of HRF parameters as non-invasive indicators for age-related pathology.

Simple Improvements In Vector Design Afford Substantial Gains In Aav Delivery Of Aggregation-Slowing Aβ Variants, Ella Borgenheimer, Cameron Trueblood, Bryan L Nguyen, William R Lagor, Joanna L Jankowsky

Faculty, Staff and Students Publications

Adeno-associated virus (AAV) gene therapy for neurological disease has gained traction due to stunning advances in capsid evolution for CNS targeting. With AAV brain delivery now in focus, conventional improvements in viral expression vectors offer a complementary route for optimizing gene delivery. We previously introduced a novel AAV gene therapy to slow amyloid aggregation in the brain based on neuronal release of an Aβ sequence variant that inhibited fibrilization of wild-type Aβ. Here we explore three coding elements of the virally delivered DNA plasmid in an effort to maximize the production of therapeutic peptide in the brain. We demonstrate that …

Wearable Surface Electromyography System To Predict Freeze Of Gait In Parkinson's Disease Patients., Anna Moore, Jinxing Li, Christopher H Contag, Luke J Currano, Connor O Pyles, David A Hinkle, Vivek Shinde Patil

Neuroscience Articles

Freezing of gait (FOG) is a disabling yet poorly understood paroxysmal gait disorder affecting the vast majority of patients with Parkinson's disease (PD) as they reach advanced stages of the disorder. Falling is one of the most disabling consequences of a FOG episode; it often results in injury and a future fear of falling, leading to diminished social engagement, a reduction in general fitness, loss of independence, and degradation of overall quality of life. Currently, there is no robust or reliable treatment against FOG in PD. In the absence of reliable and effective treatment for Parkinson's disease, alleviating the consequences …

Clinical And Radiologic Findings In Children With Anomalous Pontine Cranial Nerves, Karen K Moeller, Brandon H Tran, Thierry A G M Huisman, Nilesh K Desai, Marcia K Kukreja, Rajan P Patel, Uma S Ramaswamy, Carol Liu, Stephen F Kralik

Faculty, Staff and Students Publications

We retrospectively reviewed the clinical and radiologic findings in 17 children with an aberrant cisternal cranial nerve 7 (CN7), and found that these patients had additional anomalies involving other pontine cranial nerves (CNs). The hallmark imaging feature identified in all patients was an aberrant cisternal segment of an enlarged-appearing CN7. The abnormal nerve coursed anteriorly toward the Gasserian ganglion, where it fanned out toward the internal auditory canal, Meckel cave, or both. This finding was accompanied by a small cisternal CN5, which often had a lateral bowed appearance. CN5 and CN7 were abnormally close to each other. Meckel's cave appeared …

Spino-Plastic Surgery: Addressing Spinal Tumors With New Techniques, Casey Martinez, Isra Abdulwadood, Sebastian Winocour, Alexander E Ropper, Marco Innocenti, Michael Bohl, Maziyar Kalani, Edward M Reece

Faculty, Staff and Students Publications

Background/Objectives: Spino-plastic surgery describes a specialized, multidisciplinary approach to addressing various spinal pathologies. The field is the innovative product of a multidisciplinary collaboration between plastic and reconstructive, orthopedic, and neurosurgery. Over the last few decades, this collaboration has borne promising surgical techniques and treatment plans geared toward restoring form, function, and aesthetics in patients with a variety of spinal conditions, including failed fusions, pseudoarthrosis, and the need for oncologic reconstruction. This paper explores the application of spino-plastic surgery in the context of post-sarcoma resection reconstructions, focusing on the efficacy in addressing the unique challenges posed by extensive tissue loss and …

Rna Splicing As A Biomarker And Phenotypic Driver Of Meningioma Dna-Methylation Groups, Nathan K Leclair, Abrar Choudury, William C Chen, Stephen T Magill, Kathleen Mccortney, Craig M Horbinski, Zhenhong Chen, Ezequiel Goldschmidt, Charlotte D Eaton, Ketan R Bulsara, Wenya Linda Bi, Akash J Patel, Felix Sahm, David Raleigh, Olga Anczukow

Faculty, Staff and Students Publications

BACKGROUND: Advances in our understanding of the molecular biology of meningiomas have led to significant gains in the ability to predict patient prognosis and tumor recurrence and to identify novel targets for therapeutic design. Specifically, classification of meningiomas based on DNA methylation has greatly improved our ability to risk stratify patients, however new questions have arisen in terms of the underlying impact these DNA-methylation signatures have on meningioma biology.

METHODS: This study utilizes RNA-sequencing data from 486 meningioma samples corresponding to 3 meningioma DNA-methylation groups (merlin-intact, immune-enriched, and hypermitotic), followed by in vitro experiments utilizing human meningioma cell lines.

RESULTS: …

3d Genome Topology Distinguishes Molecular Subgroups Of Medulloblastoma, John J Y Lee, Michael J Johnston, Hamza Farooq, Huey-Miin Chen, Subhi Talal Younes, Raul Suarez, Melissa Zwaig, Nikoleta Juretic, William A Weiss, Jiannis Ragoussis, Nada Jabado, Michael D Taylor, Marco Gallo

Faculty, Staff and Students Publications

Four main medulloblastoma (MB) molecular subtypes have been identified based on transcriptional, DNA methylation, and genetic profiles. However, it is currently not known whether 3D genome architecture differs between MB subtypes. To address this question, we performed in situ Hi-C to reconstruct the 3D genome architecture of MB subtypes. In total, we generated Hi-C and matching transcriptome data for 28 surgical specimens and Hi-C data for one patient-derived xenograft. The average resolution of the Hi-C maps was 6,833 bp. Using these data, we found that insulation scores of topologically associating domains (TADs) were effective at distinguishing MB molecular subgroups. TAD …

Sk609, A Novel Dopamine D3 Receptor Agonist And Norepinephrine Transporter Blocker With Putative Pro-Cognitive Actions, Does Not Induce Psychostimulant-Like Increases In Risky Choice During Probabilistic Discounting, Christopher P. Knapp, Brooke Fallon, Sandhya Kortagere, Barry D. Waterhouse, Stan B Floresco, Rachel L Navarra

Rowan-Virtua School of Osteopathic Medicine Departmental Research

RATIONALE: Psychostimulants, such as amphetamine (AMPH) and methylphenidate (MPH), non-selectively elevate extracellular concentrations of the catecholamine neurotransmitters, dopamine (DA) and norepinephrine (NE), and are common pharmacological strategies used to improve prefrontal cortex (PFC)-dependent cognitive dysfunction. However, this approach can be problematic given AMPH has been shown to increase preference for risky choices in a rodent assay of risk/reward decision making. SK609 is a novel NE reuptake blocker that selectively activates DA D3 receptors without affinity for the DA transporter. SK609 has been shown to improve cognitive performance without increasing psychostimulant-like spontaneous locomotor activity, suggesting SK609 may benefit neurocognitive function without …

30- And 90-Day Readmission Rates Following Traumatic Spinal Cord Injury: A Systematic Review And Meta-Analyses, Marjan Hesari, Seyed Danial Alizadeh, Hamid Malekzadeh, Reza Tabrizi, Mohammad-Rasoul Jalalifar, Alireza Shahmohammadi, Zahra Eskandari, Zahra Ghodsi, James Harrop, Vafa Rahimi-Movaghar

Department of Neurosurgery Faculty Papers

Study Design

Systematic Review and Meta-Analyses.

Objective

To assess the 30- and 90-day readmission rates after a traumatic spinal cord injury (SCI).

Methods

A systematic search of MEDLINE and Embase was performed. The period was from inception to June 2022, with no language restrictions. All studies investigating the 30- and/or 90-day readmission rate following traumatic SCI were included. A random-effects model to combine effect sizes in our meta-analysis was applied.

Results

Seven out of 2959 reports met eligibility. The mean age of the patients was 50.2 ± 19.9, with a male-to-female ratio of 2.4:1. The most common traumatic SCI was …

The Use Of Cloud Based Machine Learning To Predict Outcome In Intracerebral Haemorrhage Without Explicit Programming Expertise, Ajay Hegde, Deepu Vijaysenan, Pitchaiah Mandava, Girish Menon

Faculty, Staff and Students Publications

Machine Learning (ML) techniques require novel computer programming skills along with clinical domain knowledge to produce a useful model. We demonstrate the use of a cloud-based ML tool that does not require any programming expertise to develop, validate and deploy a prognostic model for Intracerebral Haemorrhage (ICH). The data of patients admitted with Spontaneous Intracerebral haemorrhage from January 2015 to December 2019 was accessed from our prospectively maintained hospital stroke registry. 80% of the dataset was used for training, 10% for validation, and 10% for testing. Seventeen input variables were used to predict the dichotomized outcomes (Good outcome mRS 0-3/ …

Prenatal Assessment Of Brain Malformations On Neuroimaging: An Expert Panel Review, Ivana Pogledic, Kshitij Mankad, Mariasavina Severino, Tally Lerman-Sagie, Andras Jakab, Efrat Hadi, Anna C Jansen, Nadia Bahi-Buisson, Natalya Di Donato, Renske Oegema, Christian Mitter, Ivan Capo, Matthew T Whitehead, Parthiv Haldipur, Grazia Mancini, Thierry A G M Huisman, Andrea Righini, Bill Dobyns, James A Barkovich, Natasa Jovanov Milosevic, Gregor Kasprian, Maarten Lequin

Faculty, Staff and Students Publications

Brain malformations represent a heterogeneous group of abnormalities of neural morphogenesis, often associated with aberrations of neuronal connectivity and brain volume. Prenatal detection of brain malformations requires a clear understanding of embryology and developmental morphology through the various stages of gestation. This expert panel review is written with the central aim of providing an easy-to-understand road map to improve prenatal detection and characterization of structural malformations based on the current understanding of normal and aberrant brain development. For every developmental stage, the utility of each available neuroimaging modality, including prenatal multiplanar neuro sonography, anatomical MRI and advanced MRI techniques, as …

Individualized Functional Magnetic Resonance Imaging Neuromodulation Enhances Visuospatial Perception: A Proof-Of-Concept Study, Anthony Allam, Vincent Allam, Sandy Reddy, Eric M Rohren, Sameer A Sheth, Emmanouil Froudarakis, T Dorina Papageorgiou

Duncan NRI Faculty and Staff Publications

This proof-of-concept study uses individualized functional magnetic resonance imaging neuromodulation (iNM) to explore the mechanisms that enhance BOLD signals in visuospatial perception (VP) networks that are crucial for navigation. Healthy participants (n = 8) performed a VP up- and down-direction discrimination task at full and subthreshold coherence through peripheral vision, and superimposed direction through visual imagery (VI) at central space under iNM and control conditions. iNM targets individualized anatomical and functional middle- and medial-superior temporal (MST) networks that control VP. We found that iNM engaged selective exteroceptive and interoceptive attention (SEIA) and motor planning (MP) networks. Specifically, iNM increased …

Neurofeedback: New Territories And Neurocognitive Mechanisms Of Endogenous Neuromodulation, James Sulzer, T Dorina Papageorgiou, Rainer Goebel, Talma Hendler

Faculty, Staff and Students Publications

Neurofeedback (NF) is endogenous neuromodulation of circumscribed brain circuitry. While its use of real-time brain activity in a closed-loop system is similar to brain-computer interfaces, instead of controlling an external device like the latter, the goal of NF is to change a targeted brain function. In this special issue on NF, we present current and future methods for extracting and manipulating neural function, how these methods may reveal new insights about brain function, applications, and rarely discussed ethical considerations of guiding and interpreting the brain activity of others. Together, the articles in this issue outline the possibilities of NF use …

Epidemiology Of Stroke And Risk Factors In Punjab, Pakistan: A Comprehensive Hospital-Based Study, Saima Ahmad, Adnan Khan, Fatima Gul Chaudhary, Haseeb Manzoor, Hira Jamil, Hamid Mahmood, Kausar Tayyab, Uchechukwu Levi Osuagwu

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective

Stroke is a significant global health challenge, particularly burdening low- and middle-income countries where it leads to substantial mortality and disability-adjusted life years. The objective of this study was to investigate the prevalence of stroke and its subtypes among adults in Pakistan's Punjab region.

Methods

This retrospective hospital-based study was conducted at Lahore General Hospital in Punjab, Pakistan, serving as the primary referral center for stroke cases. Medical records from January 2019 to December 2020 were reviewed using the International Classification of Diseases. A structured data collection form captured demographics, stroke types, risk factors, medical histories, and …

Electrodiagnostic Patterns In Neuromuscular Disorders: A Retrospective Cross-Sectional Study From A Tertiary Care Hospital, Ayisha Farooq Khan, Sajid Hameed, Dureshahwar Kanwar, Sara Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective

Electromyography (EMG) and nerve conduction studies (NCS) are essential for diagnosing neuromuscular disorders and differentiating various peripheral nervous system conditions. The objective of this study was to assess the prevalence and trends of neuromuscular disorders based on EMG/NCS findings in a tertiary care center in Pakistan.

Methods

This retrospective cross-sectional study was conducted at the neurophysiology laboratory of Aga Khan University Hospital from 1st January 2023 to 31st December 2023. A total of 961 EMG/NCS records were analyzed, including both inpatient and outpatient cases. Data was extracted from the EMG registry, and findings were categorized into mononeuropathy, …

Clinical And Radiological Profile Of Patients Presenting With Neurolisteriosis: A Retrospective Study From A Tertiary Care Hospital, Zainab Memon, Muhammad Abdullah, Fatima Mubarak

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective

Neurolisteriosis, a central nervous system (CNS) infection caused by Listeria monocytogenes, is associated with significant morbidity and mortality, particularly in elderly and immunocompromised individuals. The objective of this study was to analyze the clinical and radiological data from the patients of this disease presenting to a tertiary care hospital.

Methods

This retrospective review analyzed clinical, laboratory, and neuroimaging data from 12 patients diagnosed with neurolisteriosis at Aga Khan University Hospital between September 2018 and March 2024. Diagnosis was confirmed through blood and/or cerebrospinal fluid cultures or polymerase chain reaction assays. Data was analyzed using Statistical Package for …

Houge-Janssens Syndrome-1 Associated With Protein Phosphatase 2 Regulatory Subunit B’ Delta And Epilepsy: A Case Report, Dua Saleem, Fizza Akbar, Noor Zeeshan, Rabab Jafry, Salman Kirmani, Sidra Kaleem Jafri

Pakistan Journal of Neurological Sciences (PJNS)

Houge-Janssens syndrome 1 is a rare autosomal dominant disorder with approximately 100 case reports worldwide. Here, we present a case of a Pakistani toddler who presented with epilepsy and developmental delay. Family history was significant with reported and documented developmental delays in both father and elder sister, with subsequent improvement. Trio-whole-genome sequencing (WGS) and Sanger sequencing were performed, revealing a heterozygous LP variant NM_006245.4: c.626A>C, p.(His209Pro) in the girl. The same variant was also identified in her father and sister. This case sheds light on the variability of phenotypic expression amongst affected individuals and recommends the need for further …

High Dose Methylprednisolone In Children With Severe Headache In Viral Encephalitis: A Case Series, Abia Abdullah, Jay Kumari, Prem Chand

Pakistan Journal of Neurological Sciences (PJNS)

Severe headache is a common symptom in children with viral encephalitis (VE), yet effective symptom-specific therapies are limited. In this case series, we present three children of ages 15, 14, and seven diagnosed with VE who presented with severe headaches unresponsive to standard analgesics but showed significant clinical improvement following high-dose methylprednisolone therapy. Although this is not first line treatment, these cases suggest a possible role for methylprednisolone in alleviating severe VE-associated headaches. Further controlled studies are needed to establish its effectiveness and safety in such settings.