Site Menu
Search Close Search
Search Close Search
Page Menu

Publication Spotlights

 

Congratulations on our team's most recent publication achievements!

June 2025

Christopher C. Hemond, MD, first author of the June 2025 publication in Brain Communications, titled, Paramagnetic Rim Lesions are highly specific for Multiple Sclerosis in real-world data.

Stephen Chrzanowski, MD, PhD, and Eleonora D'Ambrosio, MD, of the June 2025 publication in Pediatric Neurology, titled, The Essential Role of Medicaid in Duchenne Muscular Dystrophy Care: A Call to Protect Vulnerable Popluations.

May 2025 

Alexandra Weiss, first author, with Brown Lab, Henninger Lab and Khvorova Lab, of the May 2025 publication in Molecular Therapy, titled, RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice. 

Author(s) Lisa Hall, Kelley Smith, and Jeanne Lawrence, of the May 2025 publication in Annual Review of Genomics and Human Genetics, titled, Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype  

April 2025 

Felicia Chu, first author, of the April 2025 publication in Frontiers in Neurology, titled, Clinician and patient readiness to engage with community health workers at epilepsy care centers

Felicia Chu, last author, of the April 2025 publication in Frontiers in Neurology, titled, A qualitative analysis of clinician perspectives on community health worker integration at epilepsy centers

 

Access to the PubMed list of publications

Total: displaying 15 out of 50 results

  • Petechial hemorrhage in mechanical thrombectomy for distal and medium-vessel occlusions: technical considerations and outcomes

    Friday, July 04, 2025
    Author(s): Muhammed Amir Essibayi,Hamza Adel Salim,Melissa J Fazzari,Deepak Khatri,Amanda Baker,Basel Musmar,Nimer Adeeb,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Leonard L L Yeo,Benjamin Y Q Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Yasmin Aziz,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Kareem El Naamani,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Vivek Yedavalli,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Tobias D Faizy,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,David J Altschul,MAD MT Investigators
    Source: Journal of neurosurgery
    CONCLUSIONS: PetH is a frequent sequela following MT in DMVO strokes and is associated with poorer outcomes, likely reflecting underlying ischemic injury rather than direct causation. Procedural factors influence PetH risk, suggesting medical treatment as first-line therapy for DMVOs, with MT reserved for refractory cases using less aggressive approaches.

  • Principles for Novel Neurologic Therapeutics: An AAN Position Statement

    Wednesday, June 25, 2025
    Author(s): Larry B Goldstein,Jonathan R Crowe,Anindita Deb,Justin T Jordan,Jonathan D Santoro,James J Sejvar,Madeline Turbes,Robert E Shapiro
    Source: Neurology
    This statement provides general principles of the American Academy of Neurology's (AAN) approach when invited to provide guidance to policymakers on a variety of types of therapies that may have neurologic treatment benefits, but for which available evidence is limited or for which there is no US Food and Drug Administration-approved indication. In these instances, the AAN recommends an approach in which the patient and neurologist carefully review all available evidence and discuss the...

  • Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS

    Tuesday, June 24, 2025
    Author(s): Michael E Bekier,Emile S Pinarbasi,Gopinath Krishnan,Jack J Mesojedec,Madelaine Hurley,Harisankar Harikumar Sheela,Catherine A Collins,Layla T Ghaffari,Martina de Majo,Erik M Ullian,Mark Koontz,Sarah Coleman,Xingli Li,Elizabeth Mh Tank,Jacob Waksmacki,Fen-Biao Gao,Sami J Barmada
    Source: The Journal of clinical investigation
    Cytoplasmic TDP43 mislocalization and aggregation are pathological hallmarks of amyotrophic lateral sclerosis (ALS). However, the initial cellular insults that lead to TDP43 mislocalization remain unclear. In this study, we demonstrate that Nemo-like kinase (NLK) - a proline-directed serine/threonine kinase - promotes the mislocalization of TDP43 and other RNA-binding proteins by disrupting nuclear import. NLK levels are selectively elevated in neurons exhibiting TDP43 mislocalization in ALS...

  • Restoring endogenous Dlg4/PSD95 expression by an artificial transcription factor ameliorates cognitive and motor learning deficits in the R6/2 mouse model of Huntington's disease

    Thursday, June 12, 2025
    Author(s): Germán Fernández,Kevin Leiva,Fernando J Bustos,Brigitte van Zundert
    Source: Clinical epigenetics
    CONCLUSION: This work validates Dlg4/PSD95 as a key player in the prodromal phase of HD pathology and establishes the ATF PSD95-6ZF-VP64 as an attractive therapeutic tool for treating the disease's early phase.

  • Paramagnetic rim lesions are highly specific for multiple sclerosis in real-world data

    Wednesday, June 11, 2025
    Author(s): Christopher C Hemond,Sathish K Dundamadappa,Mugdha Deshpande,Jonggyu Baek,Robert H Brown,Carolina Ionete,Daniel S Reich
    Source: Brain communications
    Paramagnetic rim lesions (PRLs) are an emerging biomarker for multiple sclerosis representing chronic, low-grade intraparenchymal brain inflammation. In addition to associating with greater disease severity, PRLs may be diagnostically supportive. Our aim in this study was to determine PRL specificity and sensitivity for discriminating multiple sclerosis from its diagnostic mimics using real-world clinical diagnostic and imaging data. This is a retrospective, cross-sectional analysis of a...

  • Editorial: Recent advances in diagnosis and treatment of brain tumors: from pediatrics to adults

    Wednesday, June 11, 2025
    Author(s): John Bianco,Dimitrios N Kanakis,Archya Dasgupta,Majaz Moonis,Cesare Zoia
    Source: Frontiers in neurology
    No abstract

  • The Essential Role of Medicaid in Duchenne Muscular Dystrophy Care: A Call to Protect Vulnerable Populations

    Thursday, June 05, 2025
    Author(s): Stephen Chrzanowski,Eleonora Silvana D'Ambrosio
    Source: Pediatric neurology
    CONCLUSION: As neuromuscular specialists at the UMass Duchenne Program, we see firsthand that Medicaid is not a luxury; it is the foundation that gives families hope for a better future. Children with DMD, as a protected and vulnerable population, cannot advocate for themselves. We must be their voice. Medicaid cuts are not merely a fiscal decision; they are a moral decision with life-altering consequences. We urge policymakers to protect Medicaid and safeguard the future of children living with...

  • Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype

    Thursday, May 29, 2025
    Author(s): Lisa L Hall,Kelly P Smith,Jeanne B Lawrence
    Source: Annual review of genomics and human genetics
    Collectively, various tandem and interspersed repetitive sequences make up approximately half the human genome, yet we have only begun to understand the potential functions of "junk" DNA. Here, we provide a brief overview of various types of repeats, but a full treatment of the repeat genome (repeatome) is beyond the scope of any review. Hence, we focus primarily on less established functions of a few major repeat classes, including pericentromeric satellites and abundant degenerate interspersed...

  • Antisense oligonucleotide jacifusen for FUS-ALS: an investigator-initiated, multicentre, open-label case series

    Sunday, May 25, 2025
    Author(s): Neil A Shneider,Matthew B Harms,Vlad A Korobeynikov,Olivia M Rifai,Benjamin N Hoover,Elizabeth A Harrington,Sonya Aziz-Zaman,Jessica Singleton,Arish Jamil,Vikram R Madan,Ikjae Lee,Jinsy A Andrews,Richard M Smiley,Mahabub M Alam,Lauren E Black,Minwook Shin,Jonathan K Watts,David Walk,Daniel Newman,Robert M Pascuzzi,Markus Weber,Christoph Neuwirth,Sandrine Da Cruz,Armand Soriano,Roger Lane,Scott Henry,Joel Mathews,Paymaan Jafar-Nejad,Dan Norris,Frank Rigo,Robert H Brown,Stephan Miller,Rebecca Crean,C Frank Bennett
    Source: Lancet (London, England)
    BACKGROUND: Pathogenic variants of fused in sarcoma (FUS) cause amyotrophic lateral sclerosis (FUS-ALS), with evidence of gain of function. Jacifusen is an antisense oligonucleotide targeting FUS pre-mRNA, previously shown to delay neurodegeneration in a mouse model and potentially slow functional decline in a first-in-human study. Here, we sought to further evaluate use of jacifusen as a treatment for FUS-ALS.

  • Safety and efficacy of trehalose in amyotrophic lateral sclerosis (HEALEY ALS Platform Trial): an adaptive, phase 2/3, double-blind, randomised, placebo-controlled trial

    Friday, May 23, 2025
    Author(s): HEALEY ALS Platform Trial,HEALEY ALS Platform Trial Study Group
    Source: The Lancet. Neurology
    BACKGROUND: Trehalose is a disaccharide that activates autophagy pathways in animal models of neurodegenerative diseases, with the potential to catalyse clearance of toxic, misfolded proteins in motor neurons and slow disease progression in amyotrophic lateral sclerosis (ALS). We aimed to evaluate the safety and efficacy of trehalose in individuals with ALS.

  • A multicenter, propensity score-matched analysis of functional outcomes and recanalization success with or without Trevo for Medium and distal vessel occlusion

    Wednesday, May 21, 2025
    Author(s): James E Siegler,Manisha Koneru,Hamza Shaikh,Hamza Adel Salim,Basel Musmar,Nimer Adeeb,Vivek Yedavalli,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Jeremy J Heit,Robert W Regenhardt,Rami Z Morsi,Tareq Kass-Hout,Nicholas Vigilante,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Muhammed Amir Essibayi,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,Piers Klein,Mohamad Abdalkader,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Jane Khalife,Ankit Rana,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
    BackgroundEndovascular therapy (EVT) for stroke due to distal or medium vessel occlusion (DMVO) is safe. Due to the distinct anatomical characteristics of DMVOs, further evaluation of EVT is crucial to determine which devices may yield better outcomes.MethodsA retrospective analysis of adults with DMVO treated in 37 centers (11 countries) was queried. The primary outcome of favorable shift in 90-day modified Rankin Scale (mRS) was compared between patients treated with Trevo versus other devices...

  • RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice

    Sunday, May 11, 2025
    Author(s): Alexandra Weiss,James W Gilbert,Iris Valeria Rivera Flores,Jillian Belgrad,Chantal Ferguson,Elif O Dogan,Nicholas Wightman,Kit Mocarski,Dimas Echeverria,Ashley L Harkins,Ashley Summers,Brianna Bramato,Nicholas McHugh,Raymond Furgal,Nozomi Yamada,David Cooper,Kathryn Monopoli,Bruno M D C Godinho,Matthew R Hassler,Ken Yamada,Paul Greer,Nils Henninger,Robert H Brown,Anastasia Khvorova
    Source: Molecular therapy : the journal of the American Society of Gene Therapy
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition, with 20% of familial and 2%-3% of sporadic cases linked to mutations in the cytosolic superoxide dismutase (SOD1) gene. Mutant SOD1 protein is toxic to motor neurons, making SOD1 gene suppression a promising approach, supported by preclinical data and the 2023 Federal Drug Administration (FDA) approval of the GapmeR ASO targeting SOD1, tofersen. Despite the approval of an ASO and the optimism it brings to the field, the...

  • Shared decision-making for multiple sclerosis using the MS-SUPPORT tool: a plain language summary

    Wednesday, May 07, 2025
    Author(s): Nananda F Col,Andrew J Solomon,Enrique Alvarez,Lori Pbert,Carolina Ionete,Idanis Berrios Morales,Jennifer Chester,Christen Kutz,Crystal Iwuchukwu,Terrie Livingston,Vicky Springmann,Hannah Col,Long Ngo
    Source: Neurodegenerative disease management
    No abstract

  • Current clinical applications of AAV-mediated gene therapy

    Wednesday, May 07, 2025
    Author(s): Barry J Byrne,Kevin M Flanigan,Susan E Matesanz,Richard S Finkel,Megan A Waldrop,Eleonora S D'Ambrosio,Nicholas E Johnson,Barbara K Smith,Carsten Bönnemann,Sean Carrig,Joseph W Rossano,Barry Greenberg,Laura Lalaguna,Enrique Lara-Pezzi,Sub Subramony,Manuela Corti,Claudia Mercado-Rodriguez,Carmen Leon-Astudillo,Rebecca Ahrens-Nicklas,Diana Bharucha-Goebel,Guangping Gao,Dominic J Gessler,Wuh-Liang Hwu,Yin-Hsiu Chien,Ni-Chung Lee,Sanford L Boye,Shannon E Boye,Lindsey A George
    Source: Molecular therapy : the journal of the American Society of Gene Therapy
    Currently, there are an estimated 8,000 genetic disorders that cumulatively affect approximately 10% of the population. Even among the 5% of patients with genetic disease that have treatment options, these therapeutics rarely address the underlying cause of disease but rather focus on managing or modifying symptoms and typically require recurrent, lifelong therapy. A therapeutic approach to genetic disease that in vivo delivers a functional copy of the aberrant gene is an intuitive solution that...

  • Clinician and patient readiness to engage with community health workers at epilepsy care centers

    Wednesday, April 30, 2025
    Author(s): Felicia C Chu,Barbara C Jobst,Anna Murray,Trina Dawson,Christine F Frisard,Barbara Glidden,Sarah J Kaden,Elaine T Kiriakopoulos
    Source: Frontiers in neurology
    CONCLUSION: Despite limited understanding of CHW roles or firsthand experience with CHWs, clinician and patient readiness for integration of CHW was high, with a strong indication that clinicians would refer patients to a CHW and that patients felt the potential for health benefit if provided with assistance from a CHW.

  • Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1

    Monday, April 28, 2025
    Author(s): Lindsay N Alfano,Megan A Iammarino,Natalie F Reash,Linda P Lowes,Lindsay Pietruszewski,Kathleen Adderley,Lauren Humphrey,Audrey B Knight,Christopher L Steiner,Melissa A Smith,Zarife Sahenk,Anne M Connolly,Momen Almomen,Eleonora S D'Ambrosio,Nathan Peck,Allison Peck
    Source: Annals of clinical and translational neurology
    OBJECTIVE: Valosin-containing protein (VCP)-associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others. Our study aimed to validate functional clinical outcome assessments (COA) and patient-reported outcomes (PRO) to inform clinical care practices and future clinical trial design. In addition,...

  • KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

    Friday, April 25, 2025
    Author(s): Arianna Manini,Rosario Vasta,Alberto Brusati,Francesco Scheveger,Silvia Peverelli,Alessio Maranzano,Alberto Doretti,Francesco Gentile,Eleonora Colombo,Maura Brunetti,Cristina Moglia,Antonio Canosa,Umberto Manera,Maurizio Grassano,Davide Gentilini,Stefano Messina,Federico Verde,Claudia Morelli,John E Landers,Bryan J Traynor,Adriano Chiò,Vincenzo Silani,Andrea Calvo,Antonia Ratti,Nicola Ticozzi
    Source: Annals of clinical and translational neurology
    This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015. No patients were homozygous (TT), allowing comparison between wild type and heterozygous carriers only. Heterozygous carriers showed faster disease progression (ALSFRS-R preslope). Findings were validated across both cohorts. Multiple...

  • A qualitative analysis of clinician perspectives on community health worker integration at epilepsy centers

    Thursday, April 24, 2025
    Author(s): Elaine T Kiriakopoulos,Barbara Jobst,Anna Murray,Carly Sykes,Suzanne Lenz,Trina Dawson,Sarah Kaden,Felicia Chu
    Source: Frontiers in neurology
    INTRODUCTION: Substantial evidence supports community health worker (CHW) interventions lead to improved health outcomes, but health professionals' perceptions of CHW roles and effectiveness may slow integration into care delivery systems. Research on CHWs as members of specialty care teams in clinical settings, especially in the epilepsy field, is limited.

  • Tolebrutinib versus Teriflunomide in Relapsing Multiple Sclerosis

    Wednesday, April 09, 2025
    Author(s): Jiwon Oh,Douglas L Arnold,Bruce A C Cree,Carolina Ionete,Ho Jin Kim,Maria Pia Sormani,Sana Syed,Yixin Chen,Christina R Maxwell,Patrick Benoit,Timothy J Turner,Erik Wallstroem,Heinz Wiendl,Tolebrutinib Phase 3 GEMINI 1 and 2 Trial Group
    Source: The New England journal of medicine
    CONCLUSIONS: Tolebrutinib was not superior to teriflunomide in decreasing annualized relapse rates among participants with relapsing multiple sclerosis. (Funded by Sanofi; GEMINI 1 and GEMINI 2 ClinicalTrials.gov numbers, NCT04410978 and NCT04410991, respectively.).

  • New Mouse Lines That Drive Tetracycline-Controlled Gene Expression in a Small Subset of Spinal Cord Dorsal Horn Neurons

    Tuesday, April 08, 2025
    Author(s): Eric Fyrberg,Heather Learnard,Soojin Lee,Yong-Woo Jun,Fen-Biao Gao
    Source: eNeuro
    Mouse lines with tetracycline-controlled gene expression in specific neuronal populations provide valuable tools for studying their development, function, connectivity, and pathology in vivo. Our initial goal was to generate a mouse model that could express amyotrophic lateral sclerosis-associated genes specifically in spinal cord motor neurons under the control of the HB9 promoter. However, HB9-tTA mice unexpectedly direct target gene expression in a small subset of dorsal horn neurons. These...

  • Incidence Trends and Risk of Recurrent Stroke of Cervical Artery Dissections in the United States Between 2005 and 2019

    Wednesday, April 02, 2025
    Author(s): Liqi Shu,Lukas Strelecky,Adam de Havenon,Thanh N Nguyen,Nils Henninger,Zafer Keser,Muhib Khan,James Ernest Siegler,Mary Penckofer,Setareh Salehi Omran,Thalia S Field,Lily Zhou,Han Xiao,Austin Jacobson,Eric D Goldstein,Christoph Stretz,Farhan Khan,Elizabeth Perelstein,Karen Furie,Shadi Yaghi
    Source: Neurology
    BACKGROUND AND OBJECTIVES: Cervical artery dissection (CeAD) is a common cause of acute ischemic stroke (AIS), especially in patients younger than 55 years, but data regarding trends and subsequent AIS risk after CeAD remain scarce. We aimed to determine national trends in CeAD admissions and examine post-CeAD risk of ischemic stroke.

  • Factors Associated With Stroke Recurrence After Initial Diagnosis of Cervical Artery Dissection

    Thursday, March 27, 2025
    Author(s): Daniel M Mandel,Liqi Shu,Christopher Chang,Naomi Jack,Christopher R Leon Guerrero,Nils Henninger,Jayachandra Muppa,Muhammad Affan,Omair Ul Haq Lodhi,Mirjam R Heldner,Kateryna Antonenko,David Seiffge,Marcel Arnold,Setareh Salehi Omran,Ross Crandall,Evan Lester,Diego Lopez Mena,Antonio Arauz,Ahmad Nehme,Marion Boulanger,Emmanuel Touzé,Joao Andre Sousa,Joao Sargento-Freitas,Vasco Barata,Paulo Castro-Chaves,Maria Teresa Brito,Muhib Khan,Dania Mallick,Aaron Rothstein,Ossama Khazaal,Josefin E Kaufman,Stefan T Engelter,Christopher Traenka,Diana Aguiar de Sousa,Mafalda Soares,Sara Rosa,Lily W Zhou,Preet Gandhi,Thalia S Field,Steven Mancini,Issa Metanis,Ronen R Leker,Kelly Pan,Vishnu Dantu,Karl Baumgartner,Tina Burton,Regina von Rennenberg,Christian H Nolte,Richard Choi,Jason MacDonald,Reza Bavarsad Shahripour,Xiaofan Guo,Malik Ghannam,Mohammad Almajali,Edgar A Samaniego,Sebastian Sanchez,Bastien Rioux,Faycal Zine-Eddine,Alexandre Poppe,Ana Catarina Fonseca,Maria Fortuna Baptista,Diana Cruz,Michele Romoli,Giovanna De Marco,Marco Longoni,Zafer Keser,Kim Griffin,Lindsey Kuohn,Jennifer Frontera,Jordan Amar,James Giles,Marialuisa Zedde,Rosario Pascarella,Ilaria Grisendi,Hipolito Nzwalo,David S Liebeskind,Amir Molaie,Annie Cavalier,Wayneho Kam,Brian Mac Grory,Sami Al Kasab,Mohammad Anadani,Kimberly Kicielinski,Ali Eltatawy,Lina Chervak,Roberto Chulluncuy Rivas,Yasmin Aziz,Ekaterina Bakradze,Thanh Lam Tran,Marc Rodrigo Gisbert,Manuel Requena,Faddi Saleh Velez,Jorge Ortiz Garcia,Varsha Muddasani,Adam de Havenon,Venugopalan Y Vishnu,Sridhara Yaddanapudi,Latasha Adams,Abigail Browngoehl,Tamra Ranasinghe,Randy Dunston,Zachary Lynch,Mary Penckofer,James E Siegler,Silvia Mayer,Joshua Willey,Adeel Zubair,Yee Kuang Cheng,Richa Sharma,João Pedro Marto,Vítor Mendes Ferreira,Piers Klein,Thanh N Nguyen,Syed Daniyal Asad,Zoha Sarwat,Anvesh Balabhadra,Shivam Patel,Thais Secchi,Sheila Martins,Gabriel Mantovani,Young Dae Kim,Balaji Krishnaiah,Cheran Elangovan,Sivani Lingam,Abid Y Qureshi,Sebastian Fridman,Alonso Alvarado-Bolanos,Farid Khasiyev,Guillermo Linares,Marina Mannino,Valeria Terruso,Sofia Vassilopoulou,Vasileios Tentolouris-Piperas,Manuel Martinez Marino,Victor Carrasco Wall,Fransisca Indraswari,Sleiman El Jamal,Shilin Liu,Muhammad Alvi,Farman Ali,Mohammed Sarvath,Rami Z Morsi,Tareq Kass-Hout,Feina Shi,Jinhua Zhang,Dilraj Sokhi,Jamil Said,Newnex Mongare,Alexis N Simpkins,Roberto Gomez,Shayak Sen,Mohammad Ghani,Marwa Elnazeir,Han Xiao,Narendra Kala,Farhan Khan,Christoph Stretz,Nahid Mohammadzadeh,Eric Goldstein,Karen Furie,Shadi Yaghi
    Source: Stroke
    CONCLUSIONS: In this post hoc analysis of the STOP-CAD study, several factors associated with subsequent ischemic stroke were identified among patients with CAD. Furthermore, we identified a potential benefit of anticoagulation in patients with CAD with occlusive dissection. These findings require validation by meta-analyses of prior studies to formulate optimal treatment strategies for specific high-risk CAD subgroups.

  • Characteristics and Medication Use Patterns of Pregnancies With COVID-19 Ending in Live-Birth in the Sentinel System

    Wednesday, March 26, 2025
    Author(s): Mayura Shinde,Austin Cosgrove,Jennifer G Lyons,Maria E Kempner,Jolene Mosley,David Cole,Emma Hoffman,Elizabeth Messenger-Jones,José J Hernández-Muñoz,Danijela Stojanovic,Benedict H W Wong,Yueqin Zhao,Leyla Sahin,Susan E Andrade,Sengwee Toh,Wei Hua
    Source: Pharmacoepidemiology and drug safety
    CONCLUSIONS: In this retrospective evaluation, selected medication utilization was higher post-COVID-19 among pregnancies with COVID-19, compared to those without COVID-19 and to non-pregnancy episodes with COVID-19. However, the low use of COVID-19-specific medications underscores the need for a safety evaluation of therapies used for COVID-19 management in the pregnant population.

  • In-Hospital Mortality Prediction among Intensive Care Unit Patients with Acute Ischemic Stroke: A Machine Learning Approach

    Tuesday, March 18, 2025
    Author(s): Jack A Cummins,Ben S Gerber,Mayuko Ito Fukunaga,Nils Henninger,Catarina I Kiefe,Feifan Liu
    Source: Health data science
    Background: Acute ischemic stroke is a leading cause of death in the United States. Identifying patients with stroke at high risk of mortality is crucial for timely intervention and optimal resource allocation. This study aims to develop and validate machine learning-based models to predict in-hospital mortality risk for intensive care unit (ICU) patients with acute ischemic stroke and identify important associated factors. Methods: Our data include 3,489 acute ischemic stroke admissions to the...

  • CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,James D Berry,Nicholas J Maragakis,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joseph Marion,Anna McGlothlin,Elijah W Stommel,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alex Sherman,Jeremy Shefner,Meghan Hall,Gale Kittle,Suma Babu,Jinsy Andrews,Derek D'Agostino,Eric Tustison,Erica Scirocco,Elisa Giacomelli,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Senda Ajroud-Driss,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin J Felice,Zachary Simmons,Timothy Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne Jackson,Shafeeq Ladha,Terry Heiman-Patterson,James Caress,Andrea Swenson,Amanda Peltier,Richard Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney E McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jonathan Glass,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Austin Rynders,Jacob Evan,Jeremy Evan,Alan Hartford,Marjan Sepassi,Karen S Ho,Robert Glanzman,Benjamin Greenberg,Michael T Hotchkin,Sabrina Paganoni,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA
    CONCLUSIONS AND RELEVANCE: No benefit of CNM-Au8 on ALS disease progression was observed at 24 weeks.

  • Pridopidine in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,Jeremy M Shefner,Björn Oskarsson,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joe Marion,Anna McGlothlin,Terry Heiman-Patterson,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alexander V Sherman,Meghan Hall,Gale Kittle,James D Berry,Suma Babu,Jinsy Andrews,Derek D'Agostino,Eric Tustison,Erica Scirocco,Elisa Giacomelli,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Senda Ajroud-Driss,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Timothy M Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura A Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Shafeeq Ladha,James B Caress,Andrea Swenson,Amanda Peltier,Richard A Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Melanie L Leitner,Kelly Chen,Y Paul Goldberg,Yael Cohen,Michal Geva,Michael R Hayden,Sabrina Paganoni,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA
    CONCLUSIONS AND RELEVANCE: In this 24-week study, pridopidine did not impact the progression of ALS.

  • Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,Jinsy Andrews,Sabrina Paganoni,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joseph Marion,Anna McGlothlin,Eufrosina Young,Marianne Chase,Lindsay Pothier,Brittney Harkey,Hong Yu,Alex Sherman,Jeremy Shefner,Meghan Hall,Gale Kittle,Mariah R Connolly,James D Berry,Derek D'Agostino,Eric Tustison,Elisa Giacomelli,Erica Scirocco,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Daragh Heitzman,Senda Ajroud-Driss,Stanley H Appel,Sheetal Shroff,Jonathan Katz,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Stephen A Goutman,Nicholas Olney,Timothy Miller,Joseph Americo Fernandes,Hristelina Ilieva,Omar Jawdat,Michael D Weiss,Laura Foster,Tuan Vu,Shafeeq Ladha,Margaret Ayo Owegi,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Andrea Swenson,Terry Heiman-Patterson,James Caress,Dominic Fee,Amanda Peltier,Richard Lewis,Jeffrey Rosenfeld,David Walk,Kristin Johnson,Matthew Elliott,Edward J Kasarskis,Seward Rutkove,Courtney E McIlduff,Richard Bedlack,Lauren Elman,Namita A Goyal,Kourosh Rezania,Paul Twydell,Michael Benatar,Jonathan Glass,Jeffrey A Cohen,Vovanti Jones,Lindsay Zilliox,James P Wymer,Said R Beydoun,Jaimin Shah,Gary L Pattee,Jennifer Martinez-Thompson,Shakti Nayar,Volkan Granit,Mary Donohue,Katheryn Grossman,Daniel J Campbell,Irfan A Qureshi,Merit E Cudkowicz,Suma Babu
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: Results demonstrate that treatment with verdiperstat was unlikely to alter disease progression in ALS.

  • Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

    Thursday, March 06, 2025
    Author(s): Seung Hoan Choi,Sean J Jurgens,Ling Xiao,Matthew C Hill,Christopher M Haggerty,Garðar Sveinbjörnsson,Valerie N Morrill,Nicholas A Marston,Lu-Chen Weng,James P Pirruccello,David O Arnar,Daniel Fannar Gudbjartsson,Helene Mantineo,Aenne S von Falkenhausen,Andrea Natale,Arnljot Tveit,Bastiaan Geelhoed,Carolina Roselli,David R Van Wagoner,Dawood Darbar,Doreen Haase,Elsayed Z Soliman,Giovanni E Davogustto,Goo Jun,Hugh Calkins,Jeffrey L Anderson,Jennifer A Brody,Jennifer L Halford,John Barnard,John E Hokanson,Jonathan D Smith,Joshua C Bis,Kendra Young,Linda S B Johnson,Lorenz Risch,Lorne J Gula,Lydia Coulter Kwee,Mark D Chaffin,Michael Kühne,Michael Preuss,Namrata Gupta,Navid A Nafissi,Nicholas L Smith,Peter M Nilsson,Pim van der Harst,Quinn S Wells,Renae L Judy,Renate B Schnabel,Renee Johnson,Roelof A J Smit,Stacey Gabriel,Stacey Knight,Tetsushi Furukawa,Thomas W Blackwell,Victor Nauffal,Xin Wang,Yuan-I Min,Zachary T Yoneda,Zachary W M Laksman,Connie R Bezzina,Alvaro Alonso,Bruce M Psaty,Christine M Albert,Dan E Arking,Dan M Roden,Daniel I Chasman,Daniel J Rader,David Conen,David D McManus,Diane Fatkin,Emelia J Benjamin,Eric Boerwinkle,Gregory M Marcus,Ingrid E Christophersen,J Gustav Smith,Jason D Roberts,Laura M Raffield,M Benjamin Shoemaker,Michael H Cho,Michael J Cutler,Michiel Rienstra,Mina K Chung,Morten S Olesen,Moritz F Sinner,Nona Sotoodehnia,Paulus Kirchhof,Ruth J F Loos,Saman Nazarian,Sanghamitra Mohanty,Scott M Damrauer,Stefan Kaab,Susan R Heckbert,Susan Redline,Svati H Shah,Toshihiro Tanaka,Yusuke Ebana,Regeneron Genetics Center,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Hilma Holm,Kari Stefansson,Christian T Ruff,Marc S Sabatine,Kathryn L Lunetta,Steven A Lubitz,Patrick T Ellinor
    Source: Nature genetics
    Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and KDM5B. We further identified associations between AF and rare structural variants owing to deletions in CTNNA3 and duplications...

  • Minimal clinical impact of embolization to new territory on outcomes in medium vessel occlusion strokes treated with mechanical thrombectomy: a retrospective multicenter study

    Wednesday, March 05, 2025
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Dhairya A Lakhani,Fathi Milhem,Basel Musmar,Nimer Adeeb,Tobias D Faizy,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Inayat Grewal,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Jeremy Josef Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Max Wintermark,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSIONS: ENT during MT for MeVO stroke occurs infrequently and does not significantly affect the clinical outcomes. These findings suggest ENT risk should not deter clinicians from performing MT in patients with MeVO. Further prospective studies are needed to validate these results.

  • Psychosocial Burden and Suicidality in Epilepsy: A Public Health Concern

    Monday, March 03, 2025
    Author(s): Elaine T Kiriakopoulos,Felicia Chu,Jay Salpekar,Gaston Baslet,Gena Ghearing,Hamada Altalib,Martha Sajatovic
    Source: Epilepsy currents
    The increased risk for psychosocial burden and suicidality in people with epilepsy compared to the general population is a well-established global public health concern. Suicidality risk is also increased in patients with functional seizures. The timely identification of patients at highest risk for psychosocial burden and self-harm is vital. This can pose a significant challenge for multidisciplinary clinicians caring for people with epilepsy. Early identification of social stressors and...

  • Association of Statin Therapy with Functional Outcomes and Survival in Intracerebral and Subarachnoid Hemorrhage

    Tuesday, February 25, 2025
    Author(s): Bahadar S Srichawla,Daksha Gopal,Majaz Moonis
    Source: Neurology international
    Background/Objectives: Intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) are severe forms of stroke with high morbidity and mortality rates. HMG-CoA reductase inhibitors, commonly referred to as statins, known for their lipid-lowering abilities, also possess pleiotropic properties, including anti-inflammatory and neuroprotective effects. We aimed to evaluate the impact of statin therapy on the functional outcomes and survival in patients with ICH and SAH. Methods: This...

  • Central-variant posterior reversible encephalopathy syndrome in association with adrenal insufficiency: A case report

    Monday, February 24, 2025
    Author(s): Bahadar S Srichawla,Vincent Kipkorir,Rakhee Lalla
    Source: Medicine
    RATIONALE: Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition often linked to hypertension, eclampsia, or renal failure. PRES typically presenting with seizures, headaches, visual disturbances, and altered mental status. A rarer form, the central variant of PRES, involves atypical radiologic findings such as edema in central brain structures. PRES has not been previously associated with adrenal insufficiency, making this case novel and significant.

  • The clinical and radiographic features of eastern equine encephalitis: A single-center retrospective case series

    Wednesday, February 19, 2025
    Author(s): Maria A Garcia-Dominguez,Majaz Moonis,Vincent Kipkorir,Bahadar S Srichawla
    Source: Medicine
    RATIONALE: This case series aims to describe the clinical and radiographic findings associated with eastern equine encephalitis (EEE) virus.

  • Intravenous Thrombolysis in Cervical Artery Dissection-Related Stroke: A Nationwide Study

    Wednesday, February 19, 2025
    Author(s): Liqi Shu,Elizabeth Lee,Thalia S Field,Xiaofan Guo,Nils Henninger,Zafer Keser,Muhib Khan,Eva A Mistry,Thanh N Nguyen,James E Siegler,Lukas Strelecky,Daniel M Mandel,Christoph Stretz,Karen L Furie,Shadi Yaghi
    Source: Journal of the American Heart Association
    CONCLUSIONS: IVT improves the likelihood of home discharge in patients with CeAD-AIS without increasing the risk of inpatient death or intracerebral hemorrhage.

  • Efficacy and Safety of Zilucoplan in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

    Monday, February 17, 2025
    Author(s): Sabrina Paganoni,Christina N Fournier,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joe Marion,Anna McGlothlin,Senda Ajroud-Driss,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alexander V Sherman,Jeremy M Shefner,Meghan Hall,Gale Kittle,James D Berry,Suma Babu,Jinsy Andrews,Derek Dagostino,Eric Tustison,Elisa Giacomelli,Erica Scirocco,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Timothy M Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura A Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Shafeeq Ladha,Terry Heiman-Patterson,James B Caress,Andrea Swenson,Amanda Peltier,Richard Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jonathan Glass,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Brittany Harvey,Shital Patel,Paul Mahoney,Petra W Duda,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA network open
    CONCLUSIONS AND RELEVANCE: In this randomized clinical trial of zilucoplan in ALS, treatment did not alter disease progression. The adaptive platform design of the HEALEY ALS Platform Trial made it possible to test a new investigational product with efficient use of time and resources.

  • Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications

    Thursday, February 13, 2025
    Author(s): Alfredo Iacoangeli,Allison A Dilliott,Ahmad Al Khleifat,Peter M Andersen,Nazlı A Başak,Johnathan Cooper-Knock,Philippe Corcia,Philippe Couratier,Mamede deCarvalho,Vivian E Drory,Jonathan D Glass,Marc Gotkine,Yosef M Lerner,Orla Hardiman,John E Landers,Russell L McLaughlin,Jesus S Mora Pardina,Karen Morrison,Susana Pinto,Monica Povedano,Christopher E Shaw,Pamela J Shaw,Vincenzo Silani,Nicola Ticozzi,Philip van Damme,Leonard H van den Berg,Patrick Vourc'h,Markus Weber,Jan Herman Veldink,Project MinE ALS Sequencing Consortium,Richard Dobson,Guy A Rouleau,Ammar Al-Chalabi,Sali M K Farhan
    Source: Journal of neurology, neurosurgery, and psychiatry
    CONCLUSIONS: Our findings represent the first large-scale, case-control assessment of oligogenicity in ALS and show that oligogenic events involving known ALS risk genes are relevant for disease risk in ~6% of ALS but not necessarily for disease onset and survival. This must be considered in genetic counselling and testing by ensuring to use comprehensive gene panels even when a pathogenic variant has already been identified. Moreover, in the age of stratified medication and gene therapy, it...

  • A Single-Center Sham and Active-Controlled Double-Blind Randomized Crossover Trial of the Magnetic Levator Prosthesis for Severe Blepharoptosis

    Tuesday, February 11, 2025
    Author(s): Kevin E Houston,Shrinivas Pundlik,Prerana Shivshanker,Alex R Bowers,Sarah LaRosa,Mara Robinson,James Chodosh,Lynn Brandes,Patrick Lee,Eleftherios I Paschalis
    Source: Translational vision science & technology
    CONCLUSIONS: The MLP was superior to KT tape and sham for the treatment of severe blepharoptosis.

  • A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

    Friday, February 07, 2025
    Author(s): Xihao Li,Han Chen,Margaret Sunitha Selvaraj,Eric Van Buren,Hufeng Zhou,Yuxuan Wang,Ryan Sun,Zachary R McCaw,Zhi Yu,Min-Zhi Jiang,Daniel DiCorpo,Sheila M Gaynor,Rounak Dey,Donna K Arnett,Emelia J Benjamin,Joshua C Bis,John Blangero,Eric Boerwinkle,Donald W Bowden,Jennifer A Brody,Brian E Cade,April P Carson,Jenna C Carlson,Nathalie Chami,Yii-Der Ida Chen,Joanne E Curran,Paul S de Vries,Myriam Fornage,Nora Franceschini,Barry I Freedman,Charles Gu,Nancy L Heard-Costa,Jiang He,Lifang Hou,Yi-Jen Hung,Marguerite R Irvin,Robert C Kaplan,Sharon L R Kardia,Tanika N Kelly,Iain Konigsberg,Charles Kooperberg,Brian G Kral,Changwei Li,Yun Li,Honghuang Lin,Ching-Ti Liu,Ruth J F Loos,Michael C Mahaney,Lisa W Martin,Rasika A Mathias,Braxton D Mitchell,May E Montasser,Alanna C Morrison,Take Naseri,Kari E North,Nicholette D Palmer,Patricia A Peyser,Bruce M Psaty,Susan Redline,Alexander P Reiner,Stephen S Rich,Colleen M Sitlani,Jennifer A Smith,Kent D Taylor,Hemant K Tiwari,Ramachandran S Vasan,Satupa'itea Viali,Zhe Wang,Jennifer Wessel,Lisa R Yanek,Bing Yu,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Josée Dupuis,James B Meigs,Paul L Auer,Laura M Raffield,Alisa K Manning,Kenneth M Rice,Jerome I Rotter,Gina M Peloso,Pradeep Natarajan,Zilin Li,Zhonghua Liu,Xihong Lin
    Source: Nature computational science
    Large-scale whole-genome sequencing (WGS) studies have improved our understanding of the contributions of coding and noncoding rare variants to complex human traits. Leveraging association effect sizes across multiple traits in WGS rare variant association analysis can improve statistical power over single-trait analysis, and also detect pleiotropic genes and regions. Existing multi-trait methods have limited ability to perform rare variant analysis of large-scale WGS data. We propose...

  • Reporting standards in randomized controlled trials involving neuro-oncology caregivers: A systematic review report from the RANO-Cares working group

    Friday, February 07, 2025
    Author(s): Florien W Boele,Caroline Hertler,Paula Sherwood,David Cachia,Linda Dirven,Jacob S Young,Tobias Walbert,Macy Stockdill,Eduardo Rodriguez Almaraz,Karin Piil
    Source: Neuro-oncology practice
    CONCLUSIONS: Whilst there are opportunities to enhance reporting standards, RCTs that include neuro-oncology caregiver outcomes generally adhere to high-quality reporting standards and have low risk of bias, indicating good potential to impact clinical practice.

  • Research Priorities in Neuropalliative Care: A Consensus Statement From the International Neuropalliative Care Society

    Monday, February 03, 2025
    Author(s): Winnie K Lau,Corey R Fehnel,Zachary A Macchi,Ambereen K Mehta,Manon Auffret,Jori F Bogetz,Jori E Fleisher,Jerome J Graber,Heather E Leeper,Heena R Manglani-Terranova,Susanne Muehlschlegel,Emily L Mroz,Elizabeth J Pedowitz,Usha Ramanathan,Max Sarmet,Nathan A Shlobin,Leonard Sokol,Susan Allyson Weeks,Jiayun Xu,Helen Bundy Medsger,Claire J Creutzfeldt,Ana-Maria Vranceanu,Darin B Zahuranec,David Y Hwang
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: This Special Communication outlines some of the most pressing neuropalliative care research needs, the advancement of which will best serve patients of all ages living with serious neurologic diseases and their care partners. Research funding mechanisms are needed to support and sustain impactful work in this field.

  • Emergent Carotid Stenting During Thrombectomy in Tandem Occlusions Secondary to Dissection: A STOP-CAD Secondary Study

    Thursday, January 30, 2025
    Author(s): João André Sousa,Marc Rodrigo-Gisbert,Liqi Shu,Anqi Luo,Han Xiao,Noor A Mahmoud,Asghar Shah,Ana Luyza Oliveira Santos,Marina Moore,Daniel M Mandel,Mirjam R Heldner,Vasco Barata,Sara Bernardo-Castro,Nils Henninger,Jayachandra Muppa,Marcel Arnold,Ahmad Nehme,Aaron Rothstein,Ossama Khazaal,Josefin E Kaufmann,Stefan T Engelter,Christopher Traenka,Issa Metanis,Ronen R Leker,Christian H Nolte,Malik Ghannam,Edgar A Samaniego,Mohammad Almajali,Alexandre Y Poppe,Michele Romoli,Jennifer Frontera,Marialuisa Zedde,Wayneho Kam,Brian Mac Grory,Faddi Saleh Velez,Tamra Ranasinghe,James E Siegler,Adeel Zubair,João Pedro Marto,Piers Klein,Thanh N Nguyen,Mohamad Abdalkader,Gabriel Mantovani,Alexis N Simpkins,Shayak Sen,Marwa Elnazeir,Shadi Yaghi,Joao Sargento-Freitas,Manuel Requena
    Source: Stroke
    CONCLUSIONS: In patients presenting with an acute anterior circulation tandem occlusion secondary to cervical carotid artery dissection, emergent stenting was associated with a higher likelihood of successful intracranial recanalization but not improved functional outcomes or increased symptomatic intracranial hemorrhage. It remains unclear whether emergent stenting led to successful intracranial recanalization or patients with successful intracranial recanalization were more likely to be...

  • Efficacy and safety of mechanical thrombectomy in distal medium middle cerebral artery occlusion ischemic stroke patients on low-dose aspirin

    Tuesday, January 28, 2025
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Fathi Milhem,Basel Musmar,Nimer Adeeb,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Max Wintermark,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw
    Source: International journal of stroke : official journal of the International Stroke Society
    CONCLUSIONS: Pre-stroke low-dose aspirin was associated with improved functional outcomes and reduced mortality in patients with DMVO undergoing MT, without a significant increase in sICH. These findings suggest that low-dose aspirin may be safe and associated with more frequent excellent outcomes for this patient population. Further prospective studies are needed to validate these results and assess long-term outcomes.

  • Clinical outcomes of patients with unsuccessful mechanical thrombectomy versus best medical management of medium vessel occlusion stroke in the middle cerebral artery territory

    Friday, January 24, 2025
    Author(s): Tobias D Faizy,Vivek Yedavalli,Hamza Adel Salim,Dhairya A Lakhani,Basel Musmar,Nimer Adeeb,Muhammed Amir Essibayi,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Jeremy Josef Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Erwah Kalsoum,Max Wintermark,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adam A Dmytriw,Adrien Guenego,MAD-MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSION: Unsuccessful MT for MeVO was linked to worse outcomes than best MM. These findings highlight the risks of prolonged attempts and emphasize the importance of efficient procedural decision-making to reduce complications and improve patient outcomes.

  • Psychosocial Support Needs and Preferences Among Family Caregivers of ICU Patients with Severe Acute Brain Injury: A Qualitative Thematic Analysis

    Friday, January 17, 2025
    Author(s): David Y Hwang,Mira Reichman,Sarah M Bannon,Kate Meurer,Rina Kubota,Jisoo Kim,Nithyashri Baskaran,Qiang Zhang,Nathan S Fishbein,Kaitlyn Lichstein,Alexander M Presciutti,Emily C Woodworth,Melissa Motta,Susanne Muehlschlegel,Michael E Reznik,Matthew N Jaffa,Claire J Creutzfeldt,Corey R Fehnel,Amanda D Tomlinson,Craig A Williamson,Ana-Maria Vranceanu,Coma Family Investigators
    Source: Neurocritical care
    CONCLUSIONS: Our findings provide specific recommendations to justify and inform the development and adaptation of psychosocial support services for SABI caregivers for delivery in the ICU and after discharge.

  • Epigenetics in Neurodegenerative Diseases

    Friday, January 17, 2025
    Author(s): Brigitte van Zundert,Martin Montecino
    Source: Sub-cellular biochemistry
    Healthy brain functioning requires a continuous fine-tuning of gene expression, involving changes in the epigenetic landscape and 3D chromatin organization. Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD) are three multifactorial neurodegenerative diseases (NDDs) that are partially explained by genetics (gene mutations and genetic risk factors) and influenced by non-genetic factors (i.e., aging, lifestyle, and environmental conditions). Examining...

  • Epigenetics in Learning and Memory

    Friday, January 17, 2025
    Author(s): Brigitte van Zundert,Martin Montecino
    Source: Sub-cellular biochemistry
    In animals, memory formation and recall are essential for their survival and for adaptations to a complex and often dynamically changing environment. During memory formation, experiences prompt the activation of a selected and sparse population of cells (engram cells) that undergo persistent physical and/or chemical changes allowing long-term memory formation, which can last for decades. Over the past few decades, important progress has been made on elucidating signaling mechanisms by which...

  • Paramagnetic rim lesion formation is predicted by the initial gadolinium-enhancing lesion diameter

    Friday, January 17, 2025
    Author(s): Mustafa Al Gburi,Maria Mazzola,Martina Absinta,María I Gaitán,Daniel S Reich,Sathish K Dundamadappa,Christopher C Hemond
    Source: Multiple sclerosis (Houndmills, Basingstoke, England)
    CONCLUSIONS: The long-axis diameter of a CEL is the best translational predictor of subsequent PRL formation at follow-up. This measure holds promise as a method to identify patients at high risk of chronic active lesion formation during the acute inflammatory window.

  • Outcomes of mechanical thrombectomy for medium vessel occlusion in acute ischemic stroke patients with ASPECTS 4-5 vs. 6-7: a retrospective, multicenter, and multinational study

    Wednesday, January 15, 2025
    Author(s): Basel Musmar,Hamza Adel Salim,Nimer Adeeb,Vivek Yedavalli,Dhairya Lakhani,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Y Q Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Neuroradiology
    CONCLUSION: MT may be associated with improved outcomes in patients with moderate-to-low ASPECTS (6-7), though the lack of a control group limits definitive conclusions about its effectiveness. In patients with very low ASPECTS (4-5), higher rates of hemorrhagic complications and poorer outcomes were observed, but this does not necessarily preclude the use of MT. These findings highlight the need for further research and careful patient selection.

  • A Real-World Prospective Multiple Sclerosis Pregnancy Registry in the United States: PREG-MS

    Wednesday, January 15, 2025
    Author(s): Maria K Houtchens,Maria Claudia Manieri,Tatenda Dawn Mahlanza,Jeta Pol-Patil,Eric C Klawiter,Andrew J Solomon,Ellen Lathi,Joshua Katz,Carolina Ionete,Idanis Berrios Morales,Christopher Severson,Jonathan Zurawski,James M Stankiewicz,Ann Cabot,Adele Dessa Sadovnick
    Source: Neurology. Clinical practice
    BACKGROUND AND OBJECTIVES: Multiple sclerosis (MS) affects more than 1 million people in the United States, including reproductive-age women. There has been a paucity of prospective, pregnancy registries based on MS disease rather than medication exposures. A prospective MS pregnancy registry (PREG-MS) was established in 2017 as a prospective, single-cohort, real-world MS pregnancy registry in New England States of the United States, with goals to evaluate (1) course of MS and disease-modifying...

  • Genetic Ablation of Sarm1 Mitigates Disease Acceleration after Traumatic Brain Injury in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis

    Friday, January 10, 2025
    Author(s): Elif O Dogan,Sean R Simonini,James Bouley,Alexandra Weiss,Robert H Brown,Nils Henninger
    Source: Annals of neurology
    OBJECTIVE: Approximately 20% of familial cases of amyotrophic lateral sclerosis (ALS) are caused by mutations in the gene encoding superoxide dismutase 1 (SOD1). Epidemiological data have identified traumatic brain injury (TBI) as an exogenous risk factor for ALS; however, the mechanisms by which TBI may worsen SOD1 ALS remain largely undefined.