Neurology Commons^™

Automatic Active Lesion Tracking In Multiple Sclerosis Using Unsupervised Machine Learning, Jason Uwaeze, Ponnada A Narayana, Arash Kamali, Vladimir Braverman, Michael A Jacobs, Alireza Akhbardeh

Faculty, Staff and Student Publications

BACKGROUND: Identifying active lesions in magnetic resonance imaging (MRI) is crucial for the diagnosis and treatment planning of multiple sclerosis (MS). Active lesions on MRI are identified following the administration of Gadolinium-based contrast agents (GBCAs). However, recent studies have reported that repeated administration of GBCA results in the accumulation of Gd in tissues. In addition, GBCA administration increases health care costs. Thus, reducing or eliminating GBCA administration for active lesion detection is important for improved patient safety and reduced healthcare costs. Current state-of-the-art methods for identifying active lesions in brain MRI without GBCA administration utilize data-intensive deep learning methods.

OBJECTIVE: …

A Novel Spatiotemporal Graph Convolutional Network Framework For Functional Connectivity Biomarkers Identification Of Alzheimer’S Disease, Ying Zhang, Le Xue, Shuoyan Zhang, Jiacheng Yang, Qi Zhang, Min Wang, Luyao Wang, Mingkai Zhang, Jiehui Jiang, Yunxia Li

Faculty, Staff and Student Publications

BACKGROUND: Functional connectivity (FC) biomarkers play a crucial role in the early diagnosis and mechanistic study of Alzheimer's disease (AD). However, the identification of effective FC biomarkers remains challenging. In this study, we introduce a novel approach, the spatiotemporal graph convolutional network (ST-GCN) combined with the gradient-based class activation mapping (Grad-CAM) model (STGC-GCAM), to effectively identify FC biomarkers for AD.

METHODS: This multi-center cross-racial retrospective study involved 2,272 participants, including 1,105 cognitively normal (CN) subjects, 790 mild cognitive impairment (MCI) individuals, and 377 AD patients. All participants underwent functional magnetic resonance imaging (fMRI) and T1-weighted MRI scans. In this study, …

Safety And Efficacy Of Dynamic Catheter-Directed Cerebral Digital Subtraction Angiography For Diagnosis Of Bowhunter Syndrome Spectrum Disorders: A Systematic Review Of The Literature, Joo Won Choi, Yang Qiao, Tej I Mehta, Jessica N Wilson, Trevor H Torigoe, Samuel Tsappidi, Y Jonathan Zhang, Stacy C Brown, Ferdinand K Hui, Todd Abruzzo

Faculty, Staff and Student Publications

Introduction: Dynamic catheter-directed cerebral digital subtraction angiography (dcDSA) is the gold standard for diagnosing dynamic vascular occlusion syndromes such as bowhunter syndrome (BHS). Nonetheless, concerns about its safety exist and no standardized protocols have been published to date.

Methods: We describe our methodology and insights regarding the use of dcDSA in patients with BHS. We also perform a systematic literature review to identify cases of typical and atypical presentations of BHS wherein dcDSA was utilized and report on any procedural complications related to dcDSA.

Results: Our study included 104 cases wherein dcDSA was used for the diagnosis of BHS. There …

Safety And Tolerability Of Atogepant For The Preventive Treatment Of Migraine: A Post Hoc Analysis Of Pooled Data From Four Clinical Trials, Paul Rizzoli, Michael Marmura, Jennifer Robblee, Jennifer Mcvige, Sara Sacco, Stephanie Nahas, Jessica Ailani, Rosa De Abreu Ferreira, Julia Ma, Jonathan Smith, Brett Dabruzzo, Messoud Ashina

Department of Jefferson Headache Center Papers and Presentations

BACKGROUND: Conventional, non-specific preventive migraine treatments often demonstrate low rates of treatment persistence due to poor efficacy or tolerability. Effective, well-tolerated preventive treatments are needed to reduce migraine symptoms, improve function, and enhance quality of life. Atogepant is a migraine-specific oral calcitonin gene-related peptide receptor antagonist that is indicated for the preventive treatment of migraine in adults. This analysis evaluated the safety and tolerability profile of atogepant for the preventive treatment of migraine, including adverse events (AEs) of interest, such as constipation, nausea, hepatic safety, weight changes, and cardiac disorders.

METHODS: This post hoc analysis was performed using data pooled …

Antioxidant Responses And Phytochemical Accumulation In Raphanus Species Sprouts Through Elicitors And Predictive Models Under High Temperature Stress, María-Trinidad Toro, Roberto Fustos-Toribio, Jaime Ortiz, José Becerra, Nelson Zapata, María Dolores López-Belchí

Faculty, Staff and Students Publications

Crop production is being impacted by higher temperatures, which can decrease food yield and pose a threat to human nutrition. In the current study, edible and wild radish sprouts were exposed to elevated growth temperatures along with the exogenous application of various elicitors to activate defense mechanisms. Developmental traits, oxidative damage, glucosinolate and anthocyanin content, and antioxidant capacity were evaluated alongside the development of a predictive model. A combination of four elicitors (citric acid, methyl jasmonate—MeJa, chitosan, and K2SO4) and high temperatures were applied. The accumulation of bioactives was significantly enhanced through the application of two elicitors, K2SO4 and methyl …

A Structured, Journal-Led Peer-Review Mentoring Program Enhances Peer Review Training, Ariel Maia Lyons-Warren, Whitley W Aamodt, Kathleen M Pieper, Roy E Strowd

Faculty, Staff and Students Publications

BACKGROUND: Peer review is essential to the advancement of knowledge. However, training on how to conduct peer review is limited, unorganized, and not well studied. Thus, we sought to determine if a structured mentored peer-review program improved peer review training as measured by multiple quantitative and qualitative assessments.

METHODS: This pre-post intervention study enrolled 55 mentees across 5 cohorts from 2020 to 2023. Each cohort completed pre-program evaluations, participated in 2 mentored reviews, and completed post-program evaluations over 6 months. Mentors and mentees completed pre-program demographic and review experience questionnaires. Outcome measures included (1) total and sub-scores on the modified …

Variants In Zfx Are Associated With An X-Linked Neurodevelopmental Disorder With Recurrent Facial Gestalt\, James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George Mcgillivray, Tae-Ik Choi, Carolyn A Allan, David J Amor, Siddharth Banka, Donald G Basel, Laura D Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton-Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P Gilfillan, Nina B Gold, Karen W Gripp, Emma Hobson, Alexander M Holtz, A Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Genomics England Research Consortium;, Sébastien Küry, François Lecoquierre, Paul Lockhart, Julien Maraval, Naomichi Matsumoto, Julie Mccarrier, Josephine Mccarthy, Noriko Miyake, Lip Hen Moey, Andrea H Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E Posey, Rhonda E Schnur, Marie Shaw, Elliot Stolerman, Julie P Taylor, Erin Wadman, Emma Wakeling, Susan M White, Lawrence C Wong, James R Lupski, Olivier Lichtarge, Mark A Corbett, Jozef Gecz, Charles M Nicolet, Peggy J Farnham, Cheol-Hee Kim, Marwan Shinawi

Duncan NRI Faculty and Staff Publications

Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included …

Heterogeneity And Overlap In The Continuum Of Linguistic Profile Of Logopenic And Semantic Variants Of Primary Progressive Aphasia: A Profile Analysis Based On Multidimensional Scaling Study, Gaia Chiara Santi, Francesca Conca, Valentina Esposito, Cristina Polito, Silvia Paola Caminiti, Cecilia Boccalini, Carmen Morinelli, Valentina Berti, Salvatore Mazzeo, Valentina Bessi, Alessandra Marcone, Sandro Iannaccone, Se-Kang Kim, Sandro Sorbi, Daniela Perani, Stefano F Cappa, Eleonora Catricalà

Faculty, Staff and Students Publications

BACKGROUND: Primary progressive aphasia (PPA) diagnostic criteria underestimate the complex presentation of semantic (sv) and logopenic (lv) variants, in which symptoms partially overlap, and mixed clinical presentation (mixed-PPA) and heterogenous profile (lvPPA +) are frequent. Conceptualization of similarities and differences of these clinical conditions is still scarce.

METHODS: Lexical, semantic, phonological, and working memory errors from nine language tasks of sixty-seven PPA were analyzed using Profile Analysis based on Multidimensional Scaling, which allowed us to create a distributed representation of patients' linguistic performance in a shared space. Patients had been studied with [

RESULTS: Patients' profiles were distributed across a …

De Novo Variants In Dennd5b Cause A Neurodevelopmental Disorder, Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A Phillips, Mary E Koziura, Michael Nicouleau, Marlene Rio, Karine Siquier, Nathalie Boddaert, Ilaria Musante, Serena Tamburro, Simona Baldassari, Michele Iacomino, Paolo Scudieri, Undiagnosed Diseases Network, Jill A Rosenfeld, Gary Bellus, Sara Reed, Hind Al Saif, Rossana Sanchez Russo, Matthew B Walsh, Vincent Cantagrel, Amy Crunk, Stefano Gustincich, Sarah M Ruggiero, Mark P Fitzgerald, Ingo Helbig, Pasquale Striano, Mariasavina Severino, Vincenzo Salpietro, Nicoletta Pedemonte, Federico Zara

Faculty, Staff and Students Publications

The Rab family of guanosine triphosphatases (GTPases) includes key regulators of intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, and recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein, R6IP1B) is the longest isoform of DENND5, an evolutionarily conserved DENN domain-containing guanine nucleotide exchange factor (GEF) that is highly expressed in the brain. Through exome sequencing and international matchmaking platforms, we identified five de novo variants in DENND5B in a cohort of five unrelated individuals with neurodevelopmental phenotypes featuring cognitive impairment, dysmorphism, abnormal behavior, variable epilepsy, white matter abnormalities, and cortical gyration defects. We used biochemical assays and confocal …

Endovascular Thrombectomy For Large Ischemic Stroke Across Ischemic Injury And Penumbra Profiles., Amrou Sarraj, Ameer E Hassan, Michael G Abraham, Santiago Ortega-Gutierrez, Scott E Kasner, Muhammad Shazam Hussain, Michael Chen, Leonid Churilov, Hannah Johns, Clark W Sitton, Vignan Yogendrakumar, Felix C Ng, Deep K Pujara, Spiros Blackburn, Sophia Sundararajan, Yin C Hu, Nabeel A Herial, Juan F Arenillas, Jenny P Tsai, Ronald F Budzik, William J Hicks, Osman Kozak, Bernard Yan, Dennis J Cordato, Nathan W Manning, Mark W Parsons, Andrew Cheung, Ricardo A Hanel, Amin N Aghaebrahim, Teddy Y Wu, Pere Cardona Portela, Chirag D Gandhi, Fawaz Al-Mufti, Natalia Pérez De La Ossa, Joanna D Schaafsma, Jordi Blasco, Navdeep Sangha, Steven Warach, Timothy J Kleinig, Faris Shaker, Faisal Al Shaibi, Gabor Toth, Mohammad A Abdulrazzak, Gagan Sharma, Abhishek Ray, Jeffrey Sunshine, Amanda Opaskar, Kelsey R Duncan, Wei Xiong, Edgar A Samaniego, Laith Maali, Colleen G Lechtenberg, Arturo Renú, Nirav Vora, Thanh Nguyen, Johanna T Fifi, Stavropoula I Tjoumakaris, Pascal Jabbour, Georgios Tsivgoulis, Vitor Mendes Pereira, Maarten G Lansberg, Michael Degeorgia, Cathy A Sila, Nicholas Bambakidis, Michael D Hill, Stephen M Davis, Lawrence Wechsler, James C Grotta, Marc Ribo, Greg W Albers, Bruce C Campbell

Neuroscience Articles

IMPORTANCE: Whether endovascular thrombectomy (EVT) efficacy for patients with acute ischemic stroke and large cores varies depending on the extent of ischemic injury is uncertain.

OBJECTIVE: To describe the relationship between imaging estimates of irreversibly injured brain (core) and at-risk regions (mismatch) and clinical outcomes and EVT treatment effect.

DESIGN, SETTING, AND PARTICIPANTS: An exploratory analysis of the SELECT2 trial, which randomized 352 adults (18-85 years) with acute ischemic stroke due to occlusion of the internal carotid or middle cerebral artery (M1 segment) and large ischemic core to EVT vs medical management (MM), across 31 global centers between October 2019 …

Postconcussive Symptoms After Early Childhood Concussion, Dominique Dupont, Ken Tang, Cindy Beaudoin, Fanny Dégeilh, Isabelle Gagnon, Keith Owen Yeates, Sean C Rose, Jocelyn Gravel, Brett Burstein, Antonia S Stang, Rachel M Stanley, Roger L Zemek, Miriam H Beauchamp, Perc Koala Study

Faculty, Staff and Student Publications

IMPORTANCE: Research on postconcussive symptoms (PCS) following early childhood concussion has been hindered by a lack of measures suitable for this age group, resulting in a limited understanding of their evolution in young children.

OBJECTIVE: To document PCS in the first 3 months after early childhood concussion using a developmentally appropriate measure.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study used data collected at 3 Canadian and 1 US urban pediatric emergency departments (EDs) and 8 Canadian daycares from December 2018 to December 2022 as part of the Kids' Outcomes and Long-Term Abilities (KOALA) project, a prospective, multicenter, longitudinal cohort study. …

Neuroinvasive West Nile Virus Infection In Immunosuppressed And Immunocompetent Adults., Amir A Mbonde, David Gritsch, Ehab Y Harahsheh, Sabirah N Kasule, Shemonti Hasan, Angela M Parsons, Nan Zhang, Richard Butterfield, Harn Shiue, Kathryn A Norville, Jenna L Reynolds, Holenarasipur R Vikram, Brian Chong, Marie F Grill

Neuroscience Articles

IMPORTANCE: West Nile virus (WNV) is the leading cause of human arboviral disease in the US, peaking during summer. The incidence of WNV, including its neuroinvasive form (NWNV), is increasing, largely due to the expanding distribution of its vector, the Culex mosquito, and climatic changes causing heavy monsoon rains. However, the distinct characteristics and outcomes of NWNV in individuals who are immunosuppressed (IS) and individuals who are not IS remain underexplored.

OBJECTIVE: To describe and compare clinical and radiographic features, treatment responses, and outcomes of NWNV infection in individuals who are IS and those who are not IS.

DESIGN, SETTING, …

Rebound Intracranial Hypertension, Simy K. Parikh

Department of Jefferson Headache Center Papers and Presentations

PURPOSE OF REVIEW: Rebound intracranial hypertension (RIH) is a post-procedural treatment complication in patients with spontaneous intracranial hypotension (SIH) characterized by transient high-pressure headache symptoms. This article reviews the epidemiology, clinical features, risk factors, and treatment options for RIH.

RECENT FINDINGS: This article discusses how changes in underlying venous pressure and craniospinal elastance can explain symptoms of RIH, idiopathic intracranial hypertension (IIH), and SIH.

SUMMARY: The pathophysiology of RIH provides a clue for how high and low intracranial pressure disorders, such as IIH and SIH, are connected on a shared spectrum.

Neural Correlates Of Fear Extinction: Investing The Impact Of Puberty And Sex In Children And Adolescents Through Neuroimaging, Sneha Bhargava, Clara Zundel, Samantha Ely, Carmen Carpenter, Reem Tamimi, Leah Gowatch, Mackenna Shampine, Emilie-Clare O'Mara, Jovan Jande, Shravya Chanamolu, Ahmad Almaat, Hilary Marusak

Medical Student Research Symposium

Fear-based disorders, including anxiety and posttraumatic stress disorder, are more prevalent in females than males. Steroid hormones (e.g., estradiol) are involved in fear extinction learning and later recall—a process implicated in the pathophysiology of fear-based disorders. Fear-based disorders commonly emerge during the transition from childhood to adolescence, a period marked by the onset of puberty and a natural increase of steroid hormones. Here, we examined the effects of puberty, sex, and their interaction on extinction recall and underlying neural circuitry in youth. Eighty-five youth (6-17 years, 46% female) completed a two-day Pavlovian fear extinction paradigm while undergoing functional magnetic resonance …

Insular And Amygdala Origin Seizures: Unmasked With Electrocorticography (Ecog), Younes Motii, Arichenaramanathan Manmatharayan, Parthasarathi Chamiraju, Mona Elsayed

Medical Student Research Symposium

Insular and Amygdala Origin Seizures: Unmasked with Electrocorticography (ECOG)

Introduction:

Insula and amygdala have a large network of connections to other cortical regions. Seizures originating from these structures may become evident only after propagation to other structures. High degree of attention must be paid to auras and seizure semiology in patients with medically intractable epilepsy.

Methodology:

We have described a series of three adult male patients with focal intractable epilepsy who did not have structural lesions on Magnetic Resonance Imaging (MRI). Patients underwent MRI, Positron Emission Tomography (PET) scan, scalp electroencephalography (EEG), and stereo EEG implantation.

Results:

All three patients …

Epithelial And Mesenchymal Olfactory Stem Cells Gathered With Minimally-Invasive Micro-Brush, Tyler Petersen

Medical Student Research Symposium

Spinal cord injury (SCI) causes devastating lifestyle and financial consequences for the patient. Treatment strategies emphasize neuroprotection, but not regeneration. In this regard, stem cells are an innovative field of study that has the potential to regenerate neural tissue, thereby increasing a person’s ability to regain function. The purpose of this project is two-fold: to attain olfactory stem cells located in the nasal canal in a minimally-invasive way and to gather neural cells from the epithelium and mesenchymal cells in the lamina propria. Cells were gathered with sterile nasal micro-brushes, stored, and grown in flasks. After cells reached confluency, they …

The Utility Of Interventional Anesthesia, Kylie Daguio, Kiley Jackson, Samantha Boever, Andrew Chang, James Keane, Leonard B. Goldstein

SOMA Faculty Publications

no abstract

Severe Ataxia With Cognitive Impairment In A Young Child: A Case Report Of Pontocerebellar Hypoplasia, Soban Khan, Zeeshan Munawar, Zaid Waqar, Saad Ali, Bushra Khalid, Amina Sadiqa, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Adolescence is a period of rapid development and a variety of genetic disorders present during this time due to difficulties with motor and cognitive skills. A very rare group of diseases is genetic Pontocerebellar Hypoplasia, characterized by a developmentally small cerebellum that leads to ataxia and movement abnormalities. Here, we present a case of a young boy who presented with ataxia and falls.

Age-Stratified Mosaic Of Neuropathies: A Comprehensive Analysis Of The Prevalence And Patterns In Different Age Groups, Sana Ghous, Anjlee Shankar, Abdul Qadir Baloch, Dipanty Khastoori, Tahira Maqsood, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Neuropathies pose significant challenges in diagnosis and management due to their heterogeneous etiologies, varied clinical presentations, and differential prevalence across age groups. The objective of this study was to analyze the distribution of neuropathies among patients in various age brackets, highlighting prevalent neuropathic types and their clinical implications.

Methods:

From September 18, 2018 to September 17, 2019, 405 patients from Neurology Ward of Chandka Medical College Hospital in Larkana were included in this retrospective cross-sectional comprehensive analysis. Nerve conduction studies (NCS) of these patients were conducted in the electrophysiology department. The study cohort was stratified into …

Effects Of Maternal Subclinical Hypothyroidism On Neurodevelopment Of Offspring- An Animal-Based Study, Sabah Farhat, Syeda Sadia Fatima, Mehir Un Nisa Iqbal, Fazal Arain

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Maternal subclinical hypothyroidism (SCH) during pregnancy is associated with adverse maternal and neonatal outcomes, including cognitive and neuropsychiatric effects. This study aimed to assess the impact of maternal SCH on young rats, examining behavioral and gross brain structure changes, and evaluating reversibility after levothyroxine treatment.

Methods:

This experimental animal study was conducted at the Aga Khan University for a duration of 10 months. The study was approved by the Ethical committee for Animal Care and Use. Fourteen female Sprague Dawley rats were grouped into Treated (induced with SCH, treated with levothyroxine), Untreated (induced with SCH, no …

Use Of The 0.3-Tesla Mri Machine In Pakistan For Neurological Disorders In The Current Era: A Necessary Compromise Or A Counterproductive Exercise?, Wajid Jawaid

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Beyond The Mosquito Sting: Guillain-Barre Syndrome Following Malarial Seasonal Surge, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Abu Bakar Shaikh, Sajjad Hussain Jalbani, Abdul Ghafoor Magsi

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Malaria, a prevalent disease most commonly caused by Plasmodium vivax and falciparum, frequently leads to intricate neurological complications. The objective of this study was to study Guillain-Barre syndrome as a prevalent neurological manifestation of malaria.

Methods:

A cross-sectional observational study was undertaken at Neurology Department of Chandka Medical College Hospital in Larkana, from April 2023 to September 2023 during the seasonal peak of malaria. The study included 20 patients who met the specified criteria. SPSS version 23.0 was used for data analysis.

Results:

Among the 20 patients who developed Guillain-Barre Syndrome following malaria infection, 18 exhibited …

Timing Of Decompressive Surgery In Patients With Acute Spinal Cord Injury: Systematic Review Update, Michael G Fehlings, Laureen D Hachem, Lindsay A Tetreault, Andrea C Skelly, Joseph R Dettori, Erika D Brodt, Shay Stabler-Morris, Britt J Redick, Nathan Evaniew, Allan R Martin, Benjamin Davies, Farzin Farahbakhsh, James D Guest, Daniel Graves, Radha Korupolu, Stephen L Mckenna, Brian K Kwon

Faculty, Staff and Student Publications

STUDY DESIGN: Systematic review and meta-analysis.

OBJECTIVE: Surgical decompression is a cornerstone in the management of patients with traumatic spinal cord injury (SCI); however, the influence of the timing of surgery on neurological recovery after acute SCI remains controversial. This systematic review aims to summarize current evidence on the effectiveness, safety, and cost-effectiveness of early (≤24 hours) or late (>24 hours) surgery in patients with acute traumatic SCI for all levels of the spine. Furthermore, this systematic review aims to evaluate the evidence with respect to the impact of ultra-early surgery (earlier than 24 hours from injury) on these …

Of Hearth And Home: Professional Wellness After Hours, Timothy J. Ainger, Meriem Bensalem-Owen, Joanna Fong-Isariyawongse, Matthew William Luedke

Neurology Faculty Publications

Burnout is a prevalent problem in the contemporary practice of medicine. Defined by the Agency for Healthcare Research and Quality as, “a long-term stress reaction marked by emotional exhaustion, depersonalization, and a lack of sense of personal accomplishment,” this multifactorial condition has significant implications for the clinicians who suffer it, their patients, and families. Neurologists suffer some of the highest rates of burnout. Burnout research on interventions often focus on the work environment. In this article, we will focus on burnout’s effects on home life and features of home life that can impact resiliency, specifically sleep hygiene.

Mnemonic Utilization In Stroke Education: Fast And Befast Adoption By Certified Comprehensive Stroke Centers, Christopher Hogge, Larry B. Goldstein, Sushanth R. Aroor

Neurology Faculty Publications

Introduction: Symptom recognition and timely access to treatment are critical components of acute stroke care systems. Two mnemonics widely used in public educational campaigns for recognizing stroke symptoms include FAST (Face-Arm-Speech-Time) and BEFAST (Balance-Eyes-Face-Arm Speech-Time). The FAST mnemonic can miss up to 14% of strokes. BEFAST includes common posterior circulation stroke symptoms and has been implemented by several Comprehensive Stroke Centers (CSCs).

Methods: We sought to analyze the pattern of public educational materials available on the websites of US CSCs. The Joint Commission (JC) quality check website compiles a list containing the names and locations of the country’s 217 JC-certified …

Wilson’S Disease Presenting As Status Epilepticus: A Case Report, Iqra Athar, Neelma Naz Khattak, Hania Batool, Tehreem Farah, Tashfain Shifa, Zukhruf Zayian

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Wilson’s disease (WD) is a rare disorder of copper metabolism, caused by a mutation in the ATPB7 gene, resulting in a defect in copper elimination leading to its accumulation in various organs, with the liver being the most common. Here, we describe a case of a 19-year-old boy who presented with a history of hallucinations and status epilepticus. Initial investigations were normal, but due to a rising trend in alanine transaminase (ALT), a slit lamp examination was performed, revealing Kayser-Fleischer (KF) rings in the eyes. The patient was diagnosed with WD due to the presence of these KF rings …

Atypical Facio-Scapulo-Humeral Dystrophy With Facial Sparing: A Case Report, Umer Younas, Asma Aamir, Farooq Azam Rathore

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Facio-Scapulo-Humeral Dystrophy (FSHD) is an autosomal dominant and third most common inherited muscular dystrophy. Typical phenotype of FSHD initially affects the muscles of the face and upper arm. Atypical FSHD refers to genetically confirmed FSHD with phenotypic variations. Scapulo-Humeral Dystrophy (SHD) is the most common atypical form of FSDH characterized by no facial muscle weakness on clinical examination, while other signs remain consistent with FSHD. We report a 31-year-old male who presented with foot drop and had an unexpected presentation as SHD. Provisional diagnosis of SHD was based on careful medical history, physical examination findings, modest rise in muscle …

Role Of Minimal F-Wave Latency In The Electrodiagnosis Of Polyneuropathy, Areeba Qaiser, Safia Bano, Muhammad Imran Khan, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Polyneuropathy is a debilitating condition that causes damage to more than two peripheral nerves in the body. The objective of this research was to detect the role of minimal F-wave latency as compared with other nerve conduction parameters for the electro-diagnosis of polyneuropathies.

Methods:

In this descriptive, prospective cross-sectional study, 80 consecutive patients with clinical diagnosis of polyneuropathy (both acute and chronic) between July and December 2023, presenting to the Neurology Department at King Edward Medical University were enrolled. Patients with clinical diagnosis of cervical/lumbar radiculopathies, plexopathies, compressive myelopathy , neuromuscular junction diseases, motor neuron disorders, …

Analyzing The Impact Of Pulse Steroid Therapy On Relapse Rates And Disease Progression In Relapsing-Remitting Multiple Sclerosis: A Comprehensive Retrospective Study, Sana Ghous, Anjlee Shankar, Abdul Rahman Soomro, Abdul Qadir Baloch, Asif Ali, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Relapsing remitting MS (RRMS) is characterized by recurrent relapses with remissions. Over an extended time-frame, high-dose steroid administration has primarily centered on the treatment of acute relapses, rather than relapse prevention. The objective of this retrospective study is to assess the long-term impact of administering three monthly pulse steroid therapy for three days on relapse rates and the Expanded Disability Status Scale (EDSS) scores in patients with RRMS.

Methods:

This study was conducted at Neurology ward of Chandka Medical College Hospital in Larkana from January 2021 to January 2023. A retrospective analysis of historical patient data, …

Functional Movement Disorders: Understanding, Approach And Diagnosis, Hudaibiya Ayub, Talbiya Ayub, Rasheed Azhar

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

This commentary offers a comprehensive examination of Functional Movement Disorders (FMD) and explores recent advancements in our understanding and treatment of these intricate syndromes. FMDs challenge clinicians due to their variable nature and diverse clinical presentations, often intertwined with psychological factors. Impairments in motor intention and agency must be considered when providing care. Recognizing that non-motor symptoms can have a major impact on a patient's quality of life is equally important. Recognizing FMDs as multi-faceted conditions requiring multidisciplinary care allows consideration of cognitive, social, and demographic aspects.