Review
Neurosciences
Hui Zhang, Qi Xie, Juan Hu
Summary: Cerebral ischemia is a major disease that can lead to death or disability among patients. Studies have shown that exercise can produce protective effects in cerebral ischemia by protecting blood-brain barrier integrity, promoting neovascularization, reducing neuronal apoptosis, and ultimately improving neurological function.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
Review
Cell Biology
Hui Cao, Sai Wang Seto, Deep Jyoti Bhuyan, Hoi Huen Chan, Wenting Song
Summary: Cerebral ischemia, mainly caused by thrombus, alters the brain microenvironment, affecting brain function and the neurovascular unit. Coagulation factors play a crucial role in this process, with their specific functions needing further investigation for potential therapeutic approaches in ischemic stroke.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2022)
Review
Neurosciences
Samantha Schaeffer, Costantino Iadecola
Summary: Schaeffer and Iadecola reviewed the heterogeneity of the neurovasculature and discussed the limitations of the neurovascular unit concept and the molecular diversity of cerebrovascular cells. They proposed the concept of a 'neurovascular complex' composed of segmentally diverse functional modules that implement coordinated vascular responses to central and peripheral signals.
NATURE NEUROSCIENCE
(2021)
Article
Neurosciences
Liyun Wang, Xiaoxing Xiong, Luyuan Zhang, Jian Shen
Summary: Ischemic stroke, resulting from sudden blockage of brain blood vessels, has a significant impact on health. Recent studies have highlighted the influence of the neurovascular unit on stroke outcomes, providing new strategies for treatment. The pathophysiology and neurovascular repair processes of IS are closely linked to the homeostatic state of the NVU, suggesting potential expansions in treatment options.
CNS NEUROSCIENCE & THERAPEUTICS
(2021)
Review
Neurosciences
Amir Rattner, Yanshu Wang, Jeremy Nathans
Summary: This review discusses the mechanisms by which signals from neurons and glia control the vascular development in the central nervous system (CNS). The vascular endothelial growth factor (VEGF) and beta-catenin (canonical Wnt) signaling are highlighted as the two best-understood systems that regulate CNS vascular development. The review emphasizes foundational discoveries, interactions between different signaling systems, the integration of genetic and cell biological studies, advances that are of clinical relevance, and provides questions for future research.
ANNUAL REVIEW OF NEUROSCIENCE
(2022)
Article
Medicine, Research & Experimental
Shuyue Zhang, Ying Zhang, Yige Zheng, Shan Zhu, Jianyu Sun, Yingying Deng, Qiang Wang, Qian Zhai
Summary: Long periods of sleep deprivation have serious effects on health. A study showed that DEX can alleviate cognitive deficits and promote memory formation by inducing hippocampal neurogenesis in sleep-deprived mice. This finding may have important implications for the clinical treatment of memory impairment caused by sleep deprivation.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Chemistry, Multidisciplinary
Hong-jin Wang, Hai-feng Ran, Yue Yin, Xiao-gang Xu, Bao-xiang Jiang, Shi-qi Yu, Yi-jin Chen, Hui-jing Ren, Shan Feng, Ji-fen Zhang, Yi Chen, Qiang Xue, Xiao-yu Xu
Summary: In this study, it was found that catalpol can protect the NVU in ischemic stroke by activating the PI3K/AKT signaling pathway and increasing VEGF production, which subsequently enhances angiogenesis and neurogenesis. This protective mechanism forms a feed-forward loop to safeguard the NVU from the effects of ischemic stroke.
ACTA PHARMACOLOGICA SINICA
(2022)
Article
Biology
Kyle W. W. Gheres, Hayreddin S. S. Unsal, Xu Han, Qingguang Zhang, Kevin L. L. Turner, Nanyin Zhang, Patrick J. J. Drew
Summary: This study found that sensory stimulation in neonatal mice induces a small increase in blood volume, followed by a large decrease. The arousal state of the mice, especially sleep, plays a dominant role in regulating neurovascular coupling, obscuring the sensory-evoked changes. The findings highlight the importance of considering sleep-related vascular changes in hemodynamic measures.
COMMUNICATIONS BIOLOGY
(2023)
Review
Pediatrics
Bing Anthony Wu, Kirat K. Chand, Alexander Bell, Suzanne L. Miller, Paul B. Colditz, Atul Malhotra, Julie A. Wixey
Summary: The article discusses the association between neuropathology and disruption of the neurovascular unit (NVU) in fetal growth restriction (FGR), as well as the effects of FGR on the NVU. Studies show altered vascularity and blood-brain barrier dysfunction in the FGR brain, mediated by neuroinflammation. Anti-inflammatory treatments show promise in ameliorating the adverse effects of FGR on the NVU and providing neuroprotection.
PEDIATRIC RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Dominik Michalski, Willi Reimann, Emma Spielvogel, Bianca Mages, Bernd Biedermann, Henryk Barthel, Bjorn Nitzsche, Stefan Schob, Wolfgang Hartig
Summary: This study provides the first spatio-temporal characterization of surfactant protein-G (SP-G) and neurovascular unit (NVU) elements after experimental stroke. The results show a decrease in SP-G signals in ischemic areas and inverse immunosignals of SP-G and vascular elements. In addition, morphological alterations or changed intensities were observed in signals originating from neurons, glial elements, and extracellular matrix.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Chen Zhao, Hio-Tong Kam, Yan Chen, Guiyi Gong, Maggie Pui-Man Hoi, Krystyna Skalicka-Wozniak, Alberto Carlos Pires Dias, Simon Ming-Yuen Lee
Summary: The study revealed that crocetin was more effective than crocin in inhibiting angiogenesis by regulating the VEGF/VEGFR2 signaling pathway.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Medicine, Research & Experimental
Simiao Chen, Jinghui Zhang, Min Li, Jing Zhou, Yuyan Zhang
Summary: Current therapy for ischemic stroke primarily relies on tissue plasminogen activator (tPA), but it is limited by narrow treatment time window, bleeding complications and neurotoxicity. The preliminary study of tPA plus Danhong injection (DHI) shows that it can significantly reduce the side effects of tPA and improve its thrombolytic effect, but the mechanism of this action has not been further studied. In this study, the combination of DHI and tPA significantly improved neurological function, reduced blood-brain barrier disruption, and promoted angiogenesis in a rat model of ischemic stroke. The results suggest that the activation of the Notch-VEGF signaling pathway may play a role in the beneficial effects of DHI and tPA.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Mathematical & Computational Biology
Bhadra S. Kumar, Aditi Khot, V. Srinivasa Chakravarthy, S. Pushpavanam
Summary: Neurovascular coupling is a bidirectional system where neurons transmit signals to blood vessels for vasodilation, and vessels feedback available oxygen to fuel neural firing. This feedback mechanism influences the formation of neuronal maps in both normal and pathological conditions such as hypoxia and hypoxia-ischemia.
FRONTIERS IN COMPUTATIONAL NEUROSCIENCE
(2021)
Article
Plant Sciences
Xingru Tao, Kedi Liu, Weihong Li, Shi Zhao, Chengzhao Liu, Qi Dai, Taiwei Dong, Peifeng Wei, Jialin Duan, Jingwen Wang, Miaomiao Xi
Summary: This study discovered that the saponins of Aralia taibaiensis can promote angiogenesis in cerebral ischemia-reperfusion injury, and it exerts its effects by regulating the VEGF/VEGFR2 pathway and Src/eNOS and PLCγ1/ERK1/2 pathways.
JOURNAL OF ETHNOPHARMACOLOGY
(2023)
Review
Clinical Neurology
Steffen Tiedt, Alastair M. Buchan, Martin Dichgans, Ignacio Lizasoain, Maria A. Moro, Eng H. Lo
Summary: The article discusses the pathophysiology of ischemic stroke, emphasizing the interaction between the neurovascular unit and systemic biology. It explores the potential of this integrated view in discovering new mechanisms and improving stroke care.
NATURE REVIEWS NEUROLOGY
(2022)
Review
Pediatrics
Jamie L. Fraser, Charles P. Venditti
CURRENT OPINION IN PEDIATRICS
(2016)
Article
Neurosciences
Xingju Nie, Danielle W. Lowe, Laura Grace Rollins, Jessica Bentzley, Jamie L. Fraser, Renee Martin, Inderjit Singh, Dorothea Jenkins
NEUROSCIENCE RESEARCH
(2016)
Review
Endocrinology & Metabolism
Laura A. Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria Escolar, Sarah H. Evans, Ali Fatemi, Jamie Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan Maddock, Edna Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas Langan, Richard Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William Rizzo, Jay Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Genevieve Bernard, Keith van Haren, Adeline Vanderver
MOLECULAR GENETICS AND METABOLISM
(2017)
Article
Neurosciences
Danielle W. Lowe, Jamie L. Fraser, Laura Grace Rollins, Jessica Bentzley, Xingju Nie, Renee Martin, Inderjit Singh, Dorothea Jenkins
Article
Obstetrics & Gynecology
Laurel Gower, Dorothea Jenkins, Jamie L. Fraser, Viswanathan Ramakrishnan, Patty Coker-Bolt
JOURNAL OF PERINATOLOGY
(2019)
Article
Health Care Sciences & Services
Maureen E. Lyon, Jessica D. Thompkins, Karen Fratantoni, Jamie L. Fraser, Sandra E. Schellinger, Linda Briggs, Sarah Friebert, Samar Aoun, Yao Iris Cheng, Jichuan Wang
Summary: This study developed and pilot tested a palliative care intervention for family caregivers of children with rare diseases. The intervention showed positive results and provided an innovative, structured approach for clinicians to deliver person-centered care.
BMJ SUPPORTIVE & PALLIATIVE CARE
(2022)
Article
Clinical Neurology
Marisa Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah von Spiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti-Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van der Knaap, Nicole Wolf
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2020)
Article
Clinical Neurology
Adeline Vanderver, Genevieve Bernard, Guy Helman, Omar Sherbini, Ryan Boeck, Jeffrey Cohn, Abigail Collins, Scott Demarest, Katherine Dobbins, Lisa Emrick, Jamie Fraser, Diane Masser-Frye, Jean Hayward, Swati Karmarkar, Stephanie Keller, Samuel Mirrop, Wendy Mitchell, Sheel Pathak, Elliott Sherr, Keith van Haren, Erica Waters, Jenny L. Wilson, Leah Zhorne, Raphael Schiffmann, Marjo S. van der Knaap, Amy Pizzino, Holly Dubbs, Justine Shults, Cas Simons, Ryan J. Taft
ANNALS OF NEUROLOGY
(2020)
Article
Genetics & Heredity
Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Baranano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara N. Inglese, Courtney Kiss, Mary Kay Koenig, Joel Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen S. Moran, Chantal F. Morel, Weiyi Mu, Eric A. Muller, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Melissa A. Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Genetics & Heredity
Natasha Shur, Shireen M. Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S. Regier, Marshall Summar
Summary: Telemedicine has played a crucial role in the current COVID-19 pandemic, emphasizing the importance of safe and effective patient care. The program, focusing on patient's homes, aimed to increase access to care, reduce missed work, and improve scheduling by conducting visits through physician medical geneticists, genetic counselors, and biochemical dietitians. This pilot-program successfully optimized patient safety and workforce preservation, providing full access to patients during the pandemic and proving the effectiveness and value of telemedicine for a complex medical population.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Maxwell L. Summerlin, Debra S. Regier, Jamie L. Fraser, Kimberly A. Chapman, Dariush Kafashzadeh, Charles Billington, Monisha Kisling, Angela Grochowsky, Nicholas Ah Mew, Natasha Shur
Summary: Treatment guidelines for rhabdomyolysis vary, with options often limited to fluids and supportive therapy when a conclusive diagnosis is evasive. In two cases of acute rhabdomyolysis, the use of dexamethasone correlated with symptom relief, decreased CK values, and expedited discharge. The consideration of dexamethasone in conjunction with standard therapy for acute rhabdomyolysis may be beneficial based on our cases, discussions, and literature review.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Chiara Kloeckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bonnemann, Eva H. Brilstra, Wendy K. Chung, Angus J. Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horvath, Jennifer Keller-Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie T. McDonald, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T. C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stodberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-Jose van den Boogaard, Saskia N. van der Crabben, Koen L. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea F. Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zarate, Rikke S. Moller, Johannes R. Lemke, Konrad Platzer
Summary: This study provides a comprehensive description of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) with intellectual disability and early-onset epilepsy as core symptoms, mostly presenting before the age of two. The findings suggest an overlap with other genes encoding components of the SNARE complex, advancing the concept of SNAREopathies as a group of neurodevelopmental disorders.
GENETICS IN MEDICINE
(2021)
Article
Clinical Neurology
Thomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, Cecilia Bonnet, Laura Cif, Cynthia Comella, Marta Correa-Vela, Maria L. Escolar, Jamie L. Fraser, Victoria Gonzalez, Neal Hermanowicz, Robert Jech, Hyder A. Jinnah, Tomasz Kmiec, Anthony Lang, Maria J. Marti, Saadet Mercimek-Andrews, Migvis Monduy, Graeme A. M. Nimmo, Belen Perez-Duenas, Helle Cecilie Viekilde Pfeiffer, Lluis Planellas, Emmanuel Roze, Nivedita Thakur, Laura Tochen, Nora Vanegas-Arroyave, Giovanna Zorzi, Colleen Burns, Feriandas Greblikas
Summary: The study investigated the effect of fosmetpantotenate replacement therapy on PKAN symptoms and disease progression, showing that while treatment with fosmetpantotenate was safe, it did not improve function in patients with PKAN.
MOVEMENT DISORDERS
(2021)
Article
Genetics & Heredity
Anne K. Lawrence, Matthew T. Whitehead, Paul Kruszka, Laura Sanapo, Sho Yano, Pranoot Tanpaiboon, Maximilian Muenke, Jamie L. Fraser, Adre J. du Plessis
Summary: This study reported a 12-year single-center experience in fetal diagnosis of diencephalic-mesencephalic junction dysplasia (DMJD), identifying three distinct phenotypic forms of DMJD and genetic mutations in some cases. Prenatal MRI can detect DMJD as early as 18 weeks gestation, with most cases showing delayed development and neurological sequelae in surviving infants. Further studies on associated genetic diagnoses and clinical outcomes are recommended.
PRENATAL DIAGNOSIS
(2021)
Article
Clinical Neurology
Juan Dario Ortigoza-Escobar, Majid Alfadhel, Marta Molero-Luis, Niklas Darin, Ronen Spiegel, Irenaeus F. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodriguez-Pombo, Brahim Tabarki, Belen Perez-Duenas
ANNALS OF NEUROLOGY
(2017)