Open Access. Powered by Scholars. Published by Universities.®
- Discipline
-
- Medical Sciences (1747)
- Neurosciences (1157)
- Diseases (723)
- Surgery (624)
- Life Sciences (511)
-
- Nervous System Diseases (429)
- Mental and Social Health (373)
- Neurosurgery (335)
- Medical Genetics (327)
- Pediatrics (322)
- Genetic Phenomena (272)
- Public Health (255)
- Social and Behavioral Sciences (245)
- Oncology (238)
- Rehabilitation and Therapy (238)
- Neuroscience and Neurobiology (210)
- Analytical, Diagnostic and Therapeutic Techniques and Equipment (196)
- Medical Neurobiology (189)
- Psychiatry and Psychology (168)
- Geriatrics (162)
- Internal Medicine (151)
- Psychology (150)
- Radiology (138)
- Anatomy (129)
- Biomedical Informatics (129)
- Pathological Conditions, Signs and Symptoms (121)
- Physical Sciences and Mathematics (105)
- Institution
-
- The Texas Medical Center Library (1390)
- Aga Khan University (1291)
- Thomas Jefferson University (852)
- University of Kentucky (331)
- Providence (237)
-
- Zucker School of Medicine at Hofstra/Northwell (141)
- Rowan University (128)
- Himmelfarb Health Sciences Library, The George Washington University (103)
- Old Dominion University (97)
- University of Texas Rio Grande Valley (86)
- HCA Healthcare (61)
- Chapman University (59)
- Children's Mercy Kansas City (56)
- LSU Health New Orleans (47)
- City University of New York (CUNY) (46)
- Wayne State University (45)
- Philadelphia College of Osteopathic Medicine (43)
- University of St Augustine for Health Sciences (41)
- OhioHealth (39)
- Virginia Commonwealth University (38)
- Case Western Reserve University (36)
- Lehigh Valley Health Network (27)
- Universitas Indonesia (27)
- University of Nevada, Las Vegas (27)
- Dartmouth College (26)
- University of South Florida (26)
- Edith Cowan University (24)
- Loma Linda University (20)
- Marshall University (20)
- Advocate Health - Midwest (18)
- Keyword
-
- Humans (1108)
- Male (531)
- Female (514)
- Animals (483)
- Mice (319)
-
- Stroke (302)
- Middle Aged (259)
- Adult (241)
- Aged (239)
- Brain (223)
- Epilepsy (194)
- Child (135)
- Treatment Outcome (135)
- Retrospective Studies (119)
- Dementia (118)
- Neurons (106)
- Magnetic Resonance Imaging (104)
- Alzheimer Disease (99)
- Neurology (94)
- Alzheimer’s disease (91)
- Adolescent (89)
- Animal (87)
- Biomarkers (87)
- Young Adult (85)
- Seizures (84)
- Disease Models, Animal (82)
- COVID-19 (81)
- Cognition (79)
- Aged, 80 and over (78)
- Aging (76)
- Publication Year
- Publication
-
- Pakistan Journal of Neurological Sciences (PJNS) (684)
- Faculty, Staff and Student Publications (608)
- Faculty, Staff and Students Publications (499)
- Department of Neurology Faculty Papers (383)
- Duncan NRI Faculty and Staff Publications (258)
-
- Neurology Faculty Publications (212)
- Section of Neurosurgery (211)
- Articles, Abstracts, and Reports (209)
- Department of Neurosurgery Faculty Papers (198)
- Journal Articles (142)
- Department of Medicine (109)
- Section of Neurology (109)
- Rowan-Virtua Research Day (97)
- Spinal Cord and Brain Injury Research Center Faculty Publications (47)
- School of Medicine Publications (43)
- School of Medicine Faculty Publications (42)
- Manuscripts, Articles, Book Chapters and Other Papers (40)
- Brain and Mind Institute (37)
- Faculty Scholarship (37)
- Neuroscience Articles (36)
- Publications and Research (35)
- Internal Medicine, East Africa (31)
- Rowan-Virtua School of Osteopathic Medicine Departmental Research (29)
- Dartmouth Scholarship (26)
- Jurnal Fisioterapi Terapan Indonesia (26)
- Department of Jefferson Headache Center Papers and Presentations (25)
- JHN Journal (25)
- Sanders-Brown Center on Aging Faculty Publications (25)
- Electronic Theses and Dissertations (23)
- Farber Institute for Neuroscience Faculty Papers (23)
- Publication Type
- File Type
Articles 211 - 240 of 5938
Full-Text Articles in Neurology
Discovery Of Small Molecules And A Druggable Groove That Regulate Dna Binding And Release Of The Ap-1 Transcription Factor Δfosb, Sean Mcneme, Yun Young Yim, Ashwani Kumar, Yi Li, Brandon Hughes, Corey Peyton St Romain, Galina Aglyamova, Jianping Chen, Nghi D Nguyen, Shanghua Fan, Gabriel S Stephens, Wen-Ning Zhao, Samantha Kruzshak, Molly Estill, Corrine Brener, Solange Tofani, Anil Kumar, Earnest P Chen, Nadeen Takatka, Alfred J Robison, Haiying Chen, Reid T Powell, Stephen J Haggarty, Clifford Stephan, Eric J Nestler, Jeannie Chin, Mischa Machius, Jia Zhou, Gabby Rudenko
Discovery Of Small Molecules And A Druggable Groove That Regulate Dna Binding And Release Of The Ap-1 Transcription Factor Δfosb, Sean Mcneme, Yun Young Yim, Ashwani Kumar, Yi Li, Brandon Hughes, Corey Peyton St Romain, Galina Aglyamova, Jianping Chen, Nghi D Nguyen, Shanghua Fan, Gabriel S Stephens, Wen-Ning Zhao, Samantha Kruzshak, Molly Estill, Corrine Brener, Solange Tofani, Anil Kumar, Earnest P Chen, Nadeen Takatka, Alfred J Robison, Haiying Chen, Reid T Powell, Stephen J Haggarty, Clifford Stephan, Eric J Nestler, Jeannie Chin, Mischa Machius, Jia Zhou, Gabby Rudenko
Faculty, Staff and Students Publications
ΔFOSB, a member of the AP-1 family of transcription factors, mediates long-term neuroadaptations underlying drug addiction, seizure-related cognitive decline, dyskinesias, and several other chronic conditions. AP-1 transcription factors are notoriously difficult to modulate pharmacologically due to the absence of well-defined binding pockets. Here, we identify a novel site on ΔFOSB, located outside the DNA-binding cleft, that accommodates small molecules. We show that sulfonic acid-containing compounds bind to this site via an induced-fit mechanism, reorienting side chains critical for DNA binding, and that they may hinder the ΔFOSB bZIP α-helix from binding to the major groove of DNA. In vivo, direct …
Efficacy Of Intravenous Immunoglobulin In Patients With Chronic Inflammatory Demyelinating Polyneuropathy With Or Without Diabetes: Insights From A Multicenter Prospective Comparative Study., Samir P. Macwan, Shalini Mahajan, Peter Novak, Khosro Farhad, Ericka Wong, Thomas H. Brannagan, Sohail Masood, Fawad Piracha, Marinos C. Dalakas
Efficacy Of Intravenous Immunoglobulin In Patients With Chronic Inflammatory Demyelinating Polyneuropathy With Or Without Diabetes: Insights From A Multicenter Prospective Comparative Study., Samir P. Macwan, Shalini Mahajan, Peter Novak, Khosro Farhad, Ericka Wong, Thomas H. Brannagan, Sohail Masood, Fawad Piracha, Marinos C. Dalakas
Department of Neurology Faculty Papers
BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most frequently observed autoimmune neuropathy in patients with diabetes mellitus (DM). While intravenous immune globulin (IVIG) is a well-established treatment for CIDP, its efficacy in diabetic patients remains uncertain due to their exclusion from prior randomized trials, largely because of concerns about confounding diabetic axonal neuropathy.
OBJECTIVES: To evaluate the effectiveness of IVIG therapy in CIDP patients with diabetes mellitus (CIDP-DM) compared to those without diabetes (CIDP).
DESIGN: Multi-center, prospective, observational study after at least 3 monthly infusions of IVIG therapy.
METHODS: Thirty-six patients meeting diagnostic criteria for CIDP were enrolled and …
A Comparison Of Tenecteplase To Alteplase For Treatment Of Acute Ischemic Stroke Using Epic Cosmos Database, Marco Gonzalez Castellon
A Comparison Of Tenecteplase To Alteplase For Treatment Of Acute Ischemic Stroke Using Epic Cosmos Database, Marco Gonzalez Castellon
Theses & Dissertations
Ischemic stroke is highly prevalent and an important cause of morbidity, mortality, and long-term disability in the in the United States. The incidence and prevalence of stroke is expected to increase in the next few years due to several factors including aging of the U. S. population, improved treatment, and socioeconomic factors. In 1996, the FDA approved rtPA for the treatment of ischemic stroke patients. Patients had a greater likelihood of recovering successfully. However, rtPA has significant limitations, such as an elevated risk of intracranial hemorrhage, administration difficulties, and limited effectiveness. In March 2025, the FDA approved the use of …
Metabolomic Profiling Reveals Brain Lipid Alterations In Pex7-Deficient Models Of Rhizomelic Chondrodysplasia Punctata, Riya Sankhe, Meredith I Williams, Wedad Fallatah, Laura Mackay, Mary Layne Brown, Pranjali Bhagwat, Sarah H Elsea, Nancy Braverman, Michael F Wangler
Metabolomic Profiling Reveals Brain Lipid Alterations In Pex7-Deficient Models Of Rhizomelic Chondrodysplasia Punctata, Riya Sankhe, Meredith I Williams, Wedad Fallatah, Laura Mackay, Mary Layne Brown, Pranjali Bhagwat, Sarah H Elsea, Nancy Braverman, Michael F Wangler
Duncan NRI Faculty and Staff Publications
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisomal disorder characterized by skeletal shortening, intellectual disability, seizures, cataracts, and reduced lifespans. RCDP1 is caused by biallelic loss-of-function variants in PEX7, which encodes a protein required for importing select enzymes into the peroxisome matrix, including those essential for ether lipid synthesis (e.g., plasmalogens) and the branched-chain fatty acid catabolism. Plasmalogen deficiency is a hallmark of RCDP1 and other peroxisomal disorders, including RCDP types 2-5 (RCDP2-5) and Zellweger spectrum disorders (ZSD). Here, we performed comprehensive metabolomic profiling of clinical samples from RCDP patients and Pex7-deficient mouse models. We identified profound …
Factors Influencing The Choice Of Neurology As A Specialty Among Medical Students And Physicians In Saudi Arabia: A Cross-Sectional Study, Muhannad A. Alahmadi, Moath M. Alomairi, Aseel O. Banasir, Omar Babateen
Factors Influencing The Choice Of Neurology As A Specialty Among Medical Students And Physicians In Saudi Arabia: A Cross-Sectional Study, Muhannad A. Alahmadi, Moath M. Alomairi, Aseel O. Banasir, Omar Babateen
Saudi Toxicology Journal
Neurological disorders represent a substantial global health burden and contribute to the rising demand for neurologists. In Saudi Arabia, the shortage of neurologists underscores the importance of understanding how medical students and physicians perceive neurology as a career. This study aimed to explore the level of interest in neurology and identify factors influencing specialty selection. This cross-sectional study was conducted between November and December 2024 among undergraduate medical students and medical graduates (residents, fellows, specialists, and consultants) in Saudi Arabia. First-year students and those without prior exposure to neurology were excluded. Data were collected through a structured online questionnaire distributed …
Point Of Care Ultrasound For Rapid Identification Of Central Retinal Artery Occlusion And Subsequent Vision Rescue Utilizing Intravenous Alteplase, Joseph Pepe, Karl Kasischke, Calen Hart
Point Of Care Ultrasound For Rapid Identification Of Central Retinal Artery Occlusion And Subsequent Vision Rescue Utilizing Intravenous Alteplase, Joseph Pepe, Karl Kasischke, Calen Hart
Florida Journal of Emergency Medicine (FJEM)
Central retinal artery occlusion (CRAO) is a rare but critical diagnosis to make in patients with acute vision loss. Cases of central retinal artery occlusion historically have a poor prognosis due to delayed presentation, lack of early identification, and limited effective treatment options. Due to these challenges, patients are often left with permanent loss of vision.
We present a case of a male patient in his late 70s with sudden onset of loss of vision to the right eye. Identification of CRAO was made utilizing point of care ultrasound (POCUS). After discussion with neurology, the patient was treated with alteplase …
Dose Adjustment Of The Anti-Seizure Medications Levetiracetam And Lamotrigine During The Postpartum Period. Schedule Plan, Safety And Efficacy, Nadejda Khmelev, Firas Fahoum, Lilach Goldstein
Dose Adjustment Of The Anti-Seizure Medications Levetiracetam And Lamotrigine During The Postpartum Period. Schedule Plan, Safety And Efficacy, Nadejda Khmelev, Firas Fahoum, Lilach Goldstein
Department of Neurology Faculty Papers
INTRODUCTION: Lamotrigine (LTG) and Levetiracetam (LEV) are anti-seizure medications (ASMs) widely used for treatment of women with epilepsy (WWE) of childbearing age due to low teratogenic potential. Physiological changes during gestation results in enhanced clearance. Drug level monitoring and frequent dose adjustments are required to avoid decline in serum levels and compromised seizure control. Postpartum, physiological changes reverse and ASM clearance trends back to pre-pregnancy rate. Rapid metabolic changes make drug level monitoring and dose adjustments challenging. A delay in dose decrement could result in toxicity. The optimal postpartum dose reduction rate hasn't been established.
METHODS: We retrospectively examined medical …
A Nationwide Registry Study Of Surgical And Patient-Reported Outcomes Following Anterior Cervical Discectomy And Fusion: Part 2 - Cage With Versus Without Local Bone Graft, Daniel De Wilde, Victor Gabriel El-Hajj, Patrick Vigren, Victor E. Staartjes, Elias Atallah, Erik Edström, Adrian Elmi-Terander
A Nationwide Registry Study Of Surgical And Patient-Reported Outcomes Following Anterior Cervical Discectomy And Fusion: Part 2 - Cage With Versus Without Local Bone Graft, Daniel De Wilde, Victor Gabriel El-Hajj, Patrick Vigren, Victor E. Staartjes, Elias Atallah, Erik Edström, Adrian Elmi-Terander
Department of Neurosurgery Faculty Papers
BACKGROUND: Local bone grafts are commonly used as filling material in cages during anterior cervical discectomy and fusion (ACDF). Alternatively, cages without filling materials can be used. The literature comparing these approaches is limited, and their respective effects on patient-reported outcomes (PROM) have been scarcely studied. This study was conducted to compare surgical outcomes and PROMs between local bone graft-packed cages and empty cages in ACDF surgery.
METHODS: This observational study utilized data from the Swedish nationwide registry, Swespine. All adults who underwent ACDF between 2006 and 2020 were considered for inclusion. Exclusion criteria included missing baseline or outcome data. …
Functional Vs Anatomical Cortico-Striatal Connectivity In The Macaque Brain, Wei Tang, Megan E Monko, Zoe Liu, Ana M G Manea, Fernando A Ortega, Damyan Hart, Jason Zhou, Jan Zimmermann, Sarah R Heilbronner
Functional Vs Anatomical Cortico-Striatal Connectivity In The Macaque Brain, Wei Tang, Megan E Monko, Zoe Liu, Ana M G Manea, Fernando A Ortega, Damyan Hart, Jason Zhou, Jan Zimmermann, Sarah R Heilbronner
Faculty, Staff and Students Publications
The cerebral cortex provides the main input to the striatum, constituting the first step in cortico-basal ganglia loops. Decades of careful anatomical tract-tracing research have established the exquisite topography of each cortical region's projection to the striatum in nonhuman primates. In parallel, neuroimaging research has demonstrated the relationship between cortico-striatal resting-state functional connectivity and specific cognitive, behavioral, psychiatric, and neurological states in humans. However, still unclear is the extent to which functional connectivity recapitulates the specific topographies of cortico-striatal anatomical connectivity. Here, we combined datasets of cortico-striatal anatomical and functional connectivity in macaques to determine the degree of overlap between …
Comprehensive Analysis Platform To Understand, Remedy, And Eliminate Amyotrophic Lateral Sclerosis (Capture Als): Study Protocol For A Canadian Multicenter, Multimodal, Longitudinal Observational Study, Natalie Saunders, Claire Magnussen, Hyungmo Kang, Mathieu Blais, Harpreet Bhinder, Gerald Pfeffer, Shelagh K. Genuis, Liziane Bouvier, Tanushka Anand, Tania M. Bubela
Comprehensive Analysis Platform To Understand, Remedy, And Eliminate Amyotrophic Lateral Sclerosis (Capture Als): Study Protocol For A Canadian Multicenter, Multimodal, Longitudinal Observational Study, Natalie Saunders, Claire Magnussen, Hyungmo Kang, Mathieu Blais, Harpreet Bhinder, Gerald Pfeffer, Shelagh K. Genuis, Liziane Bouvier, Tanushka Anand, Tania M. Bubela
Office of the Provost
Background: The marked heterogeneity of Amyotrophic Lateral Sclerosis (ALS) combined with a lack of biomarkers are key contributing factors to the lack of disease-modifying treatments. The Comprehensive Analysis Platform to Understand Remedy and Eliminate ALS (CAPTURE ALS) is a Canadian platform designed to create the most comprehensive picture of people living with ALS with the objective of facilitating ALS research initiatives worldwide.
Objectives: The main aims of CAPTURE ALS include: (1) to characterize ALS and healthy controls with biosamples and data in order to provide the most comprehensive picture of individuals living with ALS to date; (2) to create a …
Super-Fast, Super-Early: High-Frequency Oscillations May Be A Prelude To Alzheimer's Dementia In Down Syndrome, Manuel Silva-Pérez, Jeannie Chin
Super-Fast, Super-Early: High-Frequency Oscillations May Be A Prelude To Alzheimer's Dementia In Down Syndrome, Manuel Silva-Pérez, Jeannie Chin
Faculty, Staff and Students Publications
Alzheimer's disease (AD) dementia has near full penetrance in adults with Down syndrome (DS) and is strongly linked to late-onset myoclonic epilepsy in Down syndrome (LOMEDS). However, promising biomarkers of epileptogenicity, such as high-frequency oscillations (HFOs >250 Hz), have not been studied. This study is the first to use wideband polysomnography in DS to investigate if HFOs occurred and preceded AD dementia and LOMEDS. Methods: Wideband (0.1 to 500 Hz, 2048 Hz) polysomnography was performed using the international 10–20 system. HFOs were automatically detected during slow-wave sleep, followed by manual review. Results: Fourteen individuals with DS and five age-matched euploid …
A Distinct Pp2a Subunit Regulates Local Protein Phosphorylation At The Axon Initial Segment, Andrew P Anderson, Sanghyun Kim, Allison J Melton, Xiaoyun Ding, Wei Zhang, Alexander B Saltzman, Anna Malovannaya, Matthew N Rasband, Yudong Gao
A Distinct Pp2a Subunit Regulates Local Protein Phosphorylation At The Axon Initial Segment, Andrew P Anderson, Sanghyun Kim, Allison J Melton, Xiaoyun Ding, Wei Zhang, Alexander B Saltzman, Anna Malovannaya, Matthew N Rasband, Yudong Gao
Faculty, Staff and Students Publications
Protein phosphorylation plays a crucial role in regulating the cytoskeletal and membrane proteins at the axon initial segment (AIS). However, our knowledge of AIS-specific kinases and phosphatases is very limited. Here, we report the identification of a protein phosphatase 2A (PP2A) B55 regulatory subunit enriched at the AIS in mice: Ppp2r2c. Our results demonstrate that PP2A-B55 subunits exhibit substantial heterogeneity in their subcellular localization and function. Notably, the Ppp2r2c subunit is selectively concentrated at the AIS, and this enrichment is driven by its unique structure. Utilizing a microelectrode array system (MEA), we show that Ppp2r2c modulates neuronal activity during in …
The Perspectives And Experiences Of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing In Continuing Pregnancies With Fetal Structural Anomalies, Lisa S Weingarten, Allison Rosenbaum, Jessica De Voest, Stephanie Galloway, Jessica L Giordano, Samantha Stover, Lauren E Westerfield, Grant Bonesteele, Kelly L Gilmore, Leandra Tolusso, Beatrix Wong, A Theresa Wittman, Daniel T Swarr, Nancy Leslie, Anthony Johnson, Ignatia B Van Den Veyver, Neeta L Vora, Rebecca G Clifton, Aaron B Caughey, Ronald J Wapner, Wendy K Chung
The Perspectives And Experiences Of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing In Continuing Pregnancies With Fetal Structural Anomalies, Lisa S Weingarten, Allison Rosenbaum, Jessica De Voest, Stephanie Galloway, Jessica L Giordano, Samantha Stover, Lauren E Westerfield, Grant Bonesteele, Kelly L Gilmore, Leandra Tolusso, Beatrix Wong, A Theresa Wittman, Daniel T Swarr, Nancy Leslie, Anthony Johnson, Ignatia B Van Den Veyver, Neeta L Vora, Rebecca G Clifton, Aaron B Caughey, Ronald J Wapner, Wendy K Chung
Duncan NRI Faculty and Staff Publications
Objective: This study evaluates an understudied perspective: the experiences of prospective parents who decline prenatal genome sequencing (pGS) for continuing pregnancies with fetal structural anomalies.
Method: We recruited a total cohort of 300 parents of 150 pregnancies who declined pGS, including 33 individuals who underwent an invasive procedure. These parents were invited to participate in a semi-structured interview between 1 and 15 months post-partum. We used Thematic Analysis to code and analyze interviews.
Results: We interviewed 22 parents of 16 pregnancies. Reasons for declining testing included risks of invasive procedures (n = 19, 86%), lack of prenatally actionable findings (n …
Targeting Tet3 Suppresses Group 3 Medulloblastoma Stemness And Progression Via Impairing Hypomethylation Of Otx2 Super-Enhancer, Xuan Chen, Ziwei Wang, Yan Song, Yu Su, Yahui Zhao, Jiankang Li, Wei Wang, Jiao Zhang, Craig Daniels, Xiaochong Wu, Olivier Saulnier, Yanan Wang, Fei Liu, Kaiwen Deng, Dongming Han, Zijia Liu, Meiyu Li, Liam D Hendrikse, Alexandra Rasnitsyn, Evan Y Wang, Dongyang Wang, Zhaoyang Feng, Yanong Li, Zitong Zhao, Hongyu Yuan, Youliang Sun, Yifei Jiang, Yanfeng Shi, Tao Yang, Xueling Qi, Yong Hou, Chunde Li, Yong-Qiang Liu, Yu Tian, Shuaicheng Li, Xiaoguang Qiu, Michael D Taylor, Guo Liang Li, Tao Jiang, Hailong Liu
Targeting Tet3 Suppresses Group 3 Medulloblastoma Stemness And Progression Via Impairing Hypomethylation Of Otx2 Super-Enhancer, Xuan Chen, Ziwei Wang, Yan Song, Yu Su, Yahui Zhao, Jiankang Li, Wei Wang, Jiao Zhang, Craig Daniels, Xiaochong Wu, Olivier Saulnier, Yanan Wang, Fei Liu, Kaiwen Deng, Dongming Han, Zijia Liu, Meiyu Li, Liam D Hendrikse, Alexandra Rasnitsyn, Evan Y Wang, Dongyang Wang, Zhaoyang Feng, Yanong Li, Zitong Zhao, Hongyu Yuan, Youliang Sun, Yifei Jiang, Yanfeng Shi, Tao Yang, Xueling Qi, Yong Hou, Chunde Li, Yong-Qiang Liu, Yu Tian, Shuaicheng Li, Xiaoguang Qiu, Michael D Taylor, Guo Liang Li, Tao Jiang, Hailong Liu
Faculty, Staff and Students Publications
Medulloblastoma (MB), particularly Group_3 (G3-MB), remains the most aggressive subgroup due to strong stemness and therapeutic resistance. Through genome-wide DNA methylation and transcriptomic analysis of human MB samples, we identify enhancer hypomethylation as a key feature sustaining G3-MB stemness and tumor progression. Notably, hypomethylation of the Otx2 super-enhancer (SE) is a prognostic marker and potential therapeutic target for G3-MB patients. We demonstrate that disrupting Otx2 SE activity effectively reduces tumor growth in vivo, highlighting its critical role in G3-MB maintenance. TET3, recruited by OTX2, demethylates the Otx2 SE, promoting chromatin opening and sustaining tumor proliferation and stemness. To translate these …
A Double-Edged Sword: Ethical And Psychological Implications Of Apoe Genotype Disclosure Across The Lifespan, Diego Iacono
A Double-Edged Sword: Ethical And Psychological Implications Of Apoe Genotype Disclosure Across The Lifespan, Diego Iacono
Department of Neurology Faculty Papers
The apolipoprotein E (APOE) gene is the strongest genetic risk factor for sporadic Alzheimer’s disease (AD), with the ε4 allele increasing risk and decreasing the average age of onset. While APOE genotyping is primarily used in research or clinical settings for patients with memory concerns, interest in disclosing APOE status to asymptomatic individuals—particularly during early adulthood—is growing. This trend is fueled by the rise of direct-to-consumer genetic testing and emerging prevention-focused clinical trials. However, ethical debates remain unresolved about the potential harms of early disclosure, including anxiety, stigma, and misunderstanding of probabilistic risk. Conversely, some argue that knowledge of APOE …
Spectrum Of Headache Disorders In Pakistan: A Multicenter Study, Amina Javed, Shafaq Saleem, Safia Awan, Saba Zaidi, Manzoor Lakhair, Fahad Saleem, Waleed Shahzad, Ahmed Wali
Spectrum Of Headache Disorders In Pakistan: A Multicenter Study, Amina Javed, Shafaq Saleem, Safia Awan, Saba Zaidi, Manzoor Lakhair, Fahad Saleem, Waleed Shahzad, Ahmed Wali
Pakistan Journal of Neurological Sciences (PJNS)
Background and Objective:
Headache disorders represent some of the most prevalent neurological conditions worldwide. While community-based
studies provide general prevalence, data on their diagnostic spectrum in specialized clinical settings in Pakistan remain
limited. The objective of this multicenter study was to evaluate the demographic distribution and spectrum of headache
disorders among patients presenting to neurological services across Pakistan.
Methods:
This cross-sectional observational study was carried out at 39 neurology centers across Pakistan, from August 2017
to December 2019. Diagnosis was made using International Classification of Headache Disorders, 3rd edition
(ICHD-3). Demographic details, and headache subtypes were compared across gender and …
Electrophysiological Localization And Prognostic Indicators In Radial Neuropathy Presenting As Wrist Drop: A Three-Year Retrospective Observational Study, Assad Ullah Khan, Muhammad Farooq, Saad Ali, Sadiq Ali Shah
Electrophysiological Localization And Prognostic Indicators In Radial Neuropathy Presenting As Wrist Drop: A Three-Year Retrospective Observational Study, Assad Ullah Khan, Muhammad Farooq, Saad Ali, Sadiq Ali Shah
Pakistan Journal of Neurological Sciences (PJNS)
Background and Objective:
Radial neuropathy is a common cause of wrist drop, and accurate lesion localization is essential for appropriate
management and prognostication. The objective of this study was to analyze electrophysiological localization patterns
of radial nerve lesions presenting as wrist drop and to assess whether earlier referral for electrophysiological evaluation
was associated with recovery outcomes.
Methods:
This retrospective observational study was conducted at Lady Reading Hospital Peshawar, a tertiary care setting, over
a three-year period (January 2022–December 2024). Adult patients with wrist drop and electrophysiological confirmed
radial neuropathy were included. Nerve conduction studies and needle electromyography were used to …
Visual And Brainstem Evoked Potentials: A Retrospective Cross-Sectional Audit From A Tertiary Care Hospital In Pakistan, Zuha Amin Alvi, Sundus Mehtab Shafee, Zahra Talib Shah, Dureshahwar Kanwar, Sajid Hameed
Visual And Brainstem Evoked Potentials: A Retrospective Cross-Sectional Audit From A Tertiary Care Hospital In Pakistan, Zuha Amin Alvi, Sundus Mehtab Shafee, Zahra Talib Shah, Dureshahwar Kanwar, Sajid Hameed
Pakistan Journal of Neurological Sciences (PJNS)
Background and Objective:
Visual and brainstem auditory evoked potentials (VEPs and BAEPs) are standard techniques for evaluating the integrity of visual and auditory pathways respectively. The objective of our audit study was to assess demographic trends,referral indications, and electrophysiological outcomes of patients undergoing VEP and BAEP testing in a tertiary care neurophysiology laboratory in Pakistan.
Methods:
A retrospective, cross-sectional audit was conducted of 952 patient records (VEP, n=219; BAEP, n=733) over a three-year period from neurophysiology laboratory of Aga Khan University Hospital. Demographic characteristics,clinical referral indications, and electrophysiological findings were collected. Standard ACNS guidelines were used for all recordings. Statistical …
Subacute Sclerosing Panencephalitis In A 24-Month-Old Child: A Rare Early Onset And Alarming Presentation, Arshad Mehmood, Javeria Raza Alvi, Sameen Qureshi, Ahmed Bilal, Shaila Ali, Tipu Sultan
Subacute Sclerosing Panencephalitis In A 24-Month-Old Child: A Rare Early Onset And Alarming Presentation, Arshad Mehmood, Javeria Raza Alvi, Sameen Qureshi, Ahmed Bilal, Shaila Ali, Tipu Sultan
Pakistan Journal of Neurological Sciences (PJNS)
Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal neurodegenerative disorder caused by persistent measles virus infection. Early-onset SSPE in children under five years is uncommon but often rapidly progressive. We report a 24-month-old unvaccinated male who presented with progressive myoclonic seizures, gait difficulty, and rapid neurodevelopmental regression. Electroencephalography (EEG) showed periodic generalized discharges, and CSF measles antibody titers were elevated, fulfilling modified Dyken criteria. The child was classified as stage III SSPE. Symptomatic therapy including anti-seizure medications and supportive care, along with a planned ketogenic diet, was initiated but neurological outcome remained poor. This case emphasizes the aggressive …
Challenges Of Neurological Care In A Public Sector Hospital In Pakistan, Anila Umer
Challenges Of Neurological Care In A Public Sector Hospital In Pakistan, Anila Umer
Pakistan Journal of Neurological Sciences (PJNS)
No abstract provided.
Lack Of Multidisciplinary Collaboration In Stroke Rehabilitation In Pakistan: A Call For Integrated Care Models, Etisam Wahid, Shahzad Ahmad, Nimrah Humayoon
Lack Of Multidisciplinary Collaboration In Stroke Rehabilitation In Pakistan: A Call For Integrated Care Models, Etisam Wahid, Shahzad Ahmad, Nimrah Humayoon
Pakistan Journal of Neurological Sciences (PJNS)
No abstract provided.
Corrigendum: Correction Of Second Author’S Name And Affiliation In “Chorea As A Rare Manifestation Of Neuropsychiatric Systemic Lupus Erythematosus: A Case Report”, Editor Pjns
Pakistan Journal of Neurological Sciences (PJNS)
No abstract provided.
Blood- Borne Biomarkers: Exploring The Frontiers Of Minimally-Invasive Diagnosis Of Alzheimer’S Disease, Sidra Afzal, Minahil Fatima, Nimra Afzal
Blood- Borne Biomarkers: Exploring The Frontiers Of Minimally-Invasive Diagnosis Of Alzheimer’S Disease, Sidra Afzal, Minahil Fatima, Nimra Afzal
Pakistan Journal of Neurological Sciences (PJNS)
No abstract provided.
The Frontal Assessment Battery In Older Multilingual Kenyan Adults, Anne Njoki Gitere, Anne Nyambura, Karen Blackmon, Levi Muyela, Rachel Maina, Olivera Nesic Taylor,, Jasmit Shah, Dilraj Sokhi, Sylvia Mbugua, Samuel Gitau, Sheila Waa, Juzar Hooker, Zul Merali, Chinedu Momoh, Karen Blackmon
The Frontal Assessment Battery In Older Multilingual Kenyan Adults, Anne Njoki Gitere, Anne Nyambura, Karen Blackmon, Levi Muyela, Rachel Maina, Olivera Nesic Taylor,, Jasmit Shah, Dilraj Sokhi, Sylvia Mbugua, Samuel Gitau, Sheila Waa, Juzar Hooker, Zul Merali, Chinedu Momoh, Karen Blackmon
Brain and Mind Institute
Background: The Frontal Assessment Battery (FAB) was developed as a short (6-item) bedside assessment of executive dysfunction in older adults with suspected neurodegeneration. This study describes psychometric features of the FAB in multilingual Kenyan adults with and without clinical diagnosis of dementia.
Method: The FAB consists of six items assessing verbal abstract reasoning, lexical fluency, motor learning, and inhibitory control. The score on each item ranges from 0-3, with higher scores indicating better performance. Bilingual English-Swahili study personnel translated, blind back-translated, and applied consensus-driven cultural adaptations. FAB was then administered to 95 participants [71 cognitively unimpaired (CU) controls; 24 people …
Burden Of Neurodevelopmental Disorders In Kenyan Children, Symon Kariuki, Patricia Kipkemoi, Martha Kombe, Mary Bitta, Jacqueline Phillips Owen, Amina Abubakar, Charles Newton
Burden Of Neurodevelopmental Disorders In Kenyan Children, Symon Kariuki, Patricia Kipkemoi, Martha Kombe, Mary Bitta, Jacqueline Phillips Owen, Amina Abubakar, Charles Newton
Institute for Human Development, East Africa
Importance: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and intellectual disability contribute to one-tenth of the global burden of mental and neurologic disorders. The burden of NDDs is not well documented in Africa.
Objective:To assess the prevalence, risk factors, and comorbidities of NDDs in young Kenyan children.
Design, setting and participants: This cross-sectional study was conducted among children aged 6 to 9 years residing in the Kilifi Health and Demographic Surveillance System in Kenya. In stage I of the study, children were screened for NDDs from March 16, 2015, to September 14, 2016; those …
Neurology Residency Training In Pakistan: Current Status And Future, Bashir Soomro
Neurology Residency Training In Pakistan: Current Status And Future, Bashir Soomro
Pakistan Journal of Neurological Sciences (PJNS)
No abstract provided.
Alarming Rate Of Hemorrhagic Stroke Showing An Urgent Need For Hypertension Control: A Retrospective Study From A Major Stroke Center In Sindh, Sana Ghous, Muhammad Hashim Kalwar, Muhammad Hassan Butt, Irfan Ali Vighio, Mehfooz Ali Shah, Javed Khurshed Shaikh, Mansoor Hassan
Alarming Rate Of Hemorrhagic Stroke Showing An Urgent Need For Hypertension Control: A Retrospective Study From A Major Stroke Center In Sindh, Sana Ghous, Muhammad Hashim Kalwar, Muhammad Hassan Butt, Irfan Ali Vighio, Mehfooz Ali Shah, Javed Khurshed Shaikh, Mansoor Hassan
Pakistan Journal of Neurological Sciences (PJNS)
Background and Objective:
Hemorrhagic stroke accounts for approximately 18–20% of the global stroke burden and is associated with high mortality and disability. It poses a significant challenge in low- and middle-income countries, where delayed presentation and inadequate risk factor control worsen outcomes. Hypertension remains the most important modifiable risk factor, particularly when poorly controlled. The objective of this study was to investigate the incidence of hemorrhagic stroke at a major stroke center and its association with uncontrolled hypertension.
Methods:
This retrospective study was conducted at Sindh institute of cardiovascular diseases (SICVD) Sukkur over three months, from May to July 2024. …
Living With Dementia In Kenya: Pathways To Care, Diagnosis And Management, Edna Bosire
Living With Dementia In Kenya: Pathways To Care, Diagnosis And Management, Edna Bosire
Institute for Human Development, East Africa
Background: Sub-Saharan Africa (SSA) is experiencing a sharp rise in the size of theolder population; consequently, the incidence and prevalence of Alzheimer’s DiseaseRelated Dementias (AD/ADRD) is also expected to rise. There is limited research onAD/ADRD lived experiences have been conducted in SSA including Kenya. Our projectaimed to explore patient’s and caregivers lived experiences with Alzheimer’s disease inKenya.
Methods: This ethnographic study was conducted at the Aga Khan University hospital(AKUH), involving in-depth interviews with 21 health care providers, 26 patientswith mild cognitive impairment and 36 caregivers. We also conducted 10 homevisits and observations. Data were transcribed verbatim and thematically analysed.In what …
Blood-Based Clinical Markers For Early Dementia Detection: Insights From Ad-Detect-Cohort, Benard Aliwa, Jasmit Shah, Olivera Nesic Taylor,, Samuel Nguku, Juzar Hooker, Dilraj Sokhi, Sylvia Mbugua, Litha Musili, Rachel Maina, Harrison Kaleli, Levi Muyela, Anne Njoki Gitere, Anne Nyambura, Zul Merali, Karen Blackmon, Chinedu Momoh
Blood-Based Clinical Markers For Early Dementia Detection: Insights From Ad-Detect-Cohort, Benard Aliwa, Jasmit Shah, Olivera Nesic Taylor,, Samuel Nguku, Juzar Hooker, Dilraj Sokhi, Sylvia Mbugua, Litha Musili, Rachel Maina, Harrison Kaleli, Levi Muyela, Anne Njoki Gitere, Anne Nyambura, Zul Merali, Karen Blackmon, Chinedu Momoh
Brain and Mind Institute
Background: Over 55 million people worldwide live with dementia, with more than60% residing in low- and middle-income countries. Alzheimer’s disease, the mostcommon form of dementia, accounts for 60–70% of cases. Early and accurate diagnosisremains a global challenge, necessitating novel approaches to mitigate the diseaseburden. Biomarkers hold significant promise in improving diagnostic accuracy andpredicting disease progression. Validated biomarkers for the preclinical stages ofdementia are crucial for advancing diagnosis and therapeutic strategies. We aimedto identify potential clinical markers for early dementia detection and assess theirpredictive accuracy in identifying high-risk individuals.
Method: We analyzed blood samples from dementia cases (n = 30) and …
Understanding And Willingness To Participate In Dementia Clinical Trials In Kenya: An Ethnographic Study, Edna Bosire, Lucy Kamau, Chinedu Momoh, Jasmit Shah, Karen Blackmon, Caroline Kiio, Irene Meier, Vaibhav Narayan, Olivera Nesic Taylor,, Zul Merali
Understanding And Willingness To Participate In Dementia Clinical Trials In Kenya: An Ethnographic Study, Edna Bosire, Lucy Kamau, Chinedu Momoh, Jasmit Shah, Karen Blackmon, Caroline Kiio, Irene Meier, Vaibhav Narayan, Olivera Nesic Taylor,, Zul Merali
Brain and Mind Institute
Background: Advancements in dementia research are in part contingent on participation in clinical research. Clinical trials can help researchers determine if new drugs, devices, or diagnostic procedures for dementia are safe and effective. However, little is known about clinical trials for dementia in resource constrained settings such as Kenya. The aim of our research was to explore people’s understanding of dementia clinical trials, their attitudes and perceptions towards dementia clinical trials and what can be done to enhance enrollments on such clinical trials.
Method: This was an ethnographic study involving 8 focused group discussions (FGDs; age and gender stratified; n=81) …