32 Works

Witnessed apneas are associated with elevated tau-PET levels in cognitively unimpaired elderly

Diego Carvalho, Erik St. Louis, Christopher Schwarz, Val Lowe, Bradley Boeve, Scott Przybelski, Ashritha Reddy, Michelle Mielke, David Knopman, Ronald Petersen, & Prashanthi Vemuri
Objective: To assess whether informant-reported apneas during sleep (witnessed apneas) in cognitively unimpaired (CU) elderly persons are associated with higher levels of brain tau. Methods: From the population-based Mayo Clinic Study of Aging, we identified 292 CU elderly aged >=65 years with both AV-1451 tau-PET and PiB-PET scans and whose bed partners and close relatives had completed a questionnaire that assessed whether participants had witnessed apneas during sleep. For this cross-sectional analysis, we selected the...

Supplemental material for: NINDS consensus diagnostic criteria for Traumatic Encephalopathy Syndrome

Douglas Katz, Charles Bernick, David Dodick, Jesse Mez, Megan Mariani, Charles Adler, Michael Alosco, Laura Balcer, Sarah Banks, William Barr, David Brody, Robert Cantu, Kristen Dams-O'Connor, Yonas Geda, Barry Jordan, Thomas McAllister, Elaine Peskind, Ronald Petersen, Jennifer Wether, Ross Zafonte, Eimear Foley, Debra Babcock, Walter Koroshetz, Ann McKee, Martha Shenton … & Robert Stern
Objective: To develop evidence-informed, expert consensus research diagnostic criteria for Traumatic Encephalopathy Syndrome (TES), the clinical disorder associated with neuropathologically diagnosed Chronic Traumatic Encephalopathy (CTE). Methods: A panel of 20 expert clinician-scientists in neurology, neuropsychology, psychiatry, neurosurgery, and physical medicine and rehabilitation, from 11 academic institutions, participated in a modified Delphi procedure to achieve consensus, initiated at the First NINDS Consensus Workshop to Define the Diagnostic Criteria for TES, April, 2019. Prior to consensus, panelists...

Data from: PCNT point mutations and familial intracranial aneurysms

Oswaldo Lorenzo-Betancor, Patrick R. Blackburn, Emily Edwards, Rocío Vázquez-Do-Campo, Eric W. Klee, Catherine Labbé, Kyndall Hodges, Patrick Glover, Ashley N. Sigafoos, Alexandra I. Soto, Ronald L. Walton, Stephen Doxsey, Michael B. Bober, Sarah Jennings, Karl J. Clark, Yan Asmann, David Miller, William D. Freeman, James Meschia & Owen A. Ross
Objective: To identify novel genes involved in the etiology of intracranial aneurysms (IA) and / or subarachnoid hemorrhages (SAH) using whole exome sequencing. Methods. In the present study we performed whole exome sequencing in thirteen individuals from three families with an autosomal dominant IA/SAH inheritance pattern to look for candidate genes for disease. Additionally, we sequenced PCNT exon 38 in 161 sporadic IA/SAH patients in order to find additional carriers of potential pathogenic variants. Results....

Thoracic gas compression during forced expiration is greater in men than women

Elizabeth Gideon, Troy Cross, Brooke Cayo, Aaron Betts, Dallin Merrell, Catherine Coriell, Lauren Hays & Joseph Duke
Intrapleural pressure during a forced vital capacity (VC) manoeuvre is often in excess of that required to generate maximal expiratory airflow. This excess pressure compresses alveolar gas (i.e., thoracic gas compression; TGC), resulting in underestimated forced expiratory flows (FEFs) at a given lung volume. It is unknown if TGC is influenced by sex; however, because men have larger lungs and stronger respiratory muscles, we hypothesized that men would have greater TGC. We examined TGC across...

Ictal source imaging in epilepsy patients - Supplementary Data

Shuai Ye, Lin Yang, Yunfeng Lu, Michal Kucewicz, Benjamin Brinkmann, Cindy Nelson, Abbas Sohrabpour, Gregory Worrell & Bin He
Objective Localization of seizure onset zone in focal epilepsy patients is a crucial step prior to surgical planning. Noninvasively achieving this goal would have a tremendous impact on clinical management of intractable seizure. Methods In a total of 39 focal epilepsy patients, we recorded and extracted 138 seizures and 1,325 interictal epileptic discharges using high-density EEG. We have investigated a novel approach for directly imaging sources of seizures and interictal spikes from high density EEG...

Data from: Subjective cognitive decline and risk of MCI: the Mayo Clinic Study of Aging

Argonde Corien Van Harten, Michelle M. Mielke, Dana M. Swenson-Dravis, Clinton E. Hagen, Kelly K. Edwards, Rosebud O. Roberts, Yonas E. Geda, David S. Knopman & Ronald C. Petersen
Objective: We investigated different dimensions of subjective cognitive decline (SCD) to determine which was the best prognostic risk factor for incident mild cognitive impairment (MCI) among cognitively unimpaired (CU) participants. Methods: We included 1167 CU participants, aged 70-95 years from the Mayo Clinic Study of Aging based on 2 concurrent SCD scales (part of the Blessed memory test and the 39-item ECog, which included a validated 12-item derivative) and a single question assessing worry about...

Data from: Shared decision-making as a cost-containment strategy: US physician reactions from a cross-sectional survey

Jon C. Tilburt, Matthew K. Wynia, Victor M. Montori, Bjorg Thorsteinsdottir, Jason S. Egginton, Robert D. Sheeler, Mark Liebow, Katherine M. Humeniuk & Susan Dorr Goold
Objective: To assess US physicians’ attitudes towards using shared decision-making (SDM) to achieve cost containment. Design: Cross-sectional mailed survey. Setting: US medical practice. Participants: 3897 physicians were randomly selected from the AMA Physician Masterfile. Of these, 2556 completed the survey. Main outcome measures: Level of enthusiasm for “Promoting better conversations with patients as a means of lowering healthcare costs”; degree of agreement with “Decision support tools that show costs would be helpful in my practice”...

Stress: better coping associated with lower tau in amyloid positive cognitively unimpaired older adults

Eider Arenaza-Urquijo
Objective: Research in animals has shown that chronic stress exacerbates tau pathology. In humans, psychological stress has been associated with higher risk of Alzheimer’s disease (AD) clinical syndrome. The objective of this cross-sectional study was to assess the hypothesis that stress coping ability (assessed via the “Brief Resilience Scale” [BRS]) is associated with tau burden and to evaluate whether these associations differed by sex and amyloid status (A+/A-) in cognitively unimpaired older adults (CU). Methods:...

Data from: Pharmacological inactivation does not support a unique causal role for intraparietal sulcus in the discrimination of visual number

Nicholas K. DeWind, Jiyun Peng, Andrew Luo, Elizabeth M. Brannon & Michael L. Platt
The “number sense” describes the intuitive ability to quantify without counting. Single neuron recordings in non-human primates and functional imaging in humans suggest the intraparietal sulcus is an important neuroanatomical locus of numerical estimation. Other lines of inquiry implicate the IPS in numerous other functions, including attention and decision making. Here we provide a direct test of whether IPS has functional specificity for numerosity judgments. We used muscimol to reversibly and independently inactivate the ventral...

Data from: Variations in HLA-B cell surface expression, half-life and extracellular antigen receptivity

Brogan Yarzabek, Anita J. Zaitouna, Eli Olson, Gayathri N. Silva, Jie Geng, Aviva Geretz, Rasmi Thomas, Sujatha Krishnakumar, Daniel S. Ramon & Malini Raghavan
The highly polymorphic human leukocyte antigen (HLA) class I molecules present peptide antigens to CD8+ T cells, inducing immunity against infections and cancers. Quality control mediated by peptide loading complex (PLC) components is expected to ensure the cell surface expression of stable peptide-HLA class I complexes. This is exemplified by HLA-B*08:01 in primary human lymphocytes, with both expression level and half-life at the high end of the measured HLA-B expression and stability hierarchies. Conversely, low...

Acute hypertensive response in patients with acute intracerebral hemorrhage: A narrative review

Maximiliano Hawkes & Alejandro Rabinstein
Objective: To review the role of the acute hypertensive response in patients with intracerebral hemorrhage, current treatment options and areas for further research. Methods: Systematic review of the literature to assess 1) Frequency of acute hypertensive response in intracerebral hemorrhage 2) Consequences of acute hypertensive response in clinical outcomes 3) Acute hypertensive response and secondary brain injury: hematoma expansion and perihematomal edema 4) Vascular autoregulation, safety data side effects of acute antihypertensive treatment, and 5)...

Data from: Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

Leonard H Van Den Berg, Eric Sorenson, Gary Gronseth, Eric A. Macklin, Jinsy Andrews, Robert H. Baloh, Michael Benatar, James D. Berry, Adriano Chio, Philippe Corcia, Angela Genge, Amelie K. Gubitz, Catherine Lomen-Hoerth, Christopher J. McDermott, Erik P. Pioro, Jeffrey Rosenfeld, Vincenzo Silani, Martin R. Turner, Markus Weber, Benjamin Rix Brooks, Robert G. Miller & Hiroshi Mitsumoto
Objective: To revise the 1999 Airlie House consensus guidelines for the design and implementation of preclinical therapeutic studies and clinical trials in amyotrophic lateral sclerosis (ALS). Methods: A consensus committee comprising 140 key members of the international ALS community (ALS researchers, clinicians, patient representatives, research funding representatives, industry and regulatory agencies) addressed nine areas of need within ALS research: 1. Pre-clinical studies; 2. Biological and phenotypic heterogeneity; 3. Outcome measures; 4. Disease-modifying and symptomatic interventions;...

Data from: Neural correlates of domain-specific cognitive decline: the ARIC-NCS study

Andrea Lauren Christman Schneider, Matthew L Senjem, Aozhou Wu, Alden Gross, David S. Knopman, Jeffrey L Gunter, Christopher G Schwarz, Tom H. Mosley, Rebecca F. Gottesman, A. Richey Sharrett & Clifford R. Jack
Objective: To evaluate the association of cognitive declines in the domains of memory, language, and executive function with brain gray matter (GM) volume in old age. Methods: Prospective study of 1,846 participants in the Atherosclerosis Risk in Communities (ARIC) study who underwent 3T brain MRI scans in 2011-2013. Participants were categorized by cognitive domain performance trajectory over the prior 20 years (cut-point to define decline: 20th percentile). Associations between GM volume and cognitive declines were...

Guidelines for conducting ethical AI research in neurology: Supplementary materials

Sharon Chiang, Rosalind Picard, Winston Chiong, Robert Moss, Gregory Worrell, Vikram Rao & Daniel Goldenholz
Pre-emptive recognition of the ethical implications of study design and algorithm choices in artificial intelligence (AI) research is an important but challenging process. AI applications have begun to transition from a promising future to clinical reality in neurology. As the clinical management of neurology is often concerned with discrete, often unpredictable, and highly consequential events linked to multimodal data streams over long timescales, forthcoming advances in AI have great potential to transform care for patients....

Modulation of fracture healing by the transient accumulation of senescent cells

Dominik Saul, David Monroe, Jennifer Rowsey, Robyn Kosinsky, Stephanie Vos, Madison Doolittle, Joshua Farr, Sundeep Khosla, David G Monroe, Jennifer L Rowsey, Robyn Laura Kosinsky, Stephanie J Vos, Madison L Doolittle & Joshua N Farr
Senescent cells have detrimental effects across tissues with aging but may have beneficial effects on tissue repair, specifically on skin wound healing. However, the potential role of senescent cells in fracture healing has not been defined. Here, we performed an in silico analysis of public mRNAseq data and found that senescence and senescence-associated secretory phenotype (SASP) markers increased during fracture healing. We next directly established that the expression of senescence biomarkers increased markedly during murine...

Data from: IM-TORNADO: a tool for comparison of 16S reads from paired-end libraries

Patricio Jeraldo, Krishna Kalari, Xianfeng Chen, Jaysheel Bhavsar, Ashutosh Mangalam, Bryan White, Heidi Nelson, Jean-Pierre Kocher & Nicholas Chia
Motivation: 16S rDNA hypervariable tag sequencing has become the de facto method for accessing microbial diversity. Illumina paired-end sequencing, which produces two separate reads for each DNA fragment, has become the platform of choice for this application. However, when the two reads do not overlap, existing computational pipelines analyze data from read separately and underutilize the information contained in the paired-end reads. Results: We created a workflow known as Illinois Mayo Taxon Organization from RNA...

Clinical and pathological features of cognitive-predominant corticobasal degeneration

Dennis Dickson
OBJECTIVE: To describe clinical and pathological characteristics of CBD with cognitive predominant problem during the disease course. METHODS: In a series of autopsy-confirmed cases of CBD, we identified patients with cognitive rather than motor predominant features (CBD-Cog), including five patients thought to have Alzheimer disease (AD) (CBD-AD) and ten patients thought to have behavioral variant frontotemporal dementia (FTD) (CBD-FTD). We compare clinical and pathological features of CBD-Cog with those from a series of 31 patients...

Data from: Increasing procaspase 8 expression using repurposed drugs to induce HIV infected cell death in ex vivo patient cells

Rahul Sampath, Nathan W. Cummins, Sekar Natesampillai, Gary D. Bren, Thomas D. Chung, Jason Baker, Keith Henry, Amelie Pagliuzza & Andrew D. Badley
HIV persists because a reservoir of latently infected CD4 T cells do not express viral proteins and are indistinguishable from uninfected cells. One approach to HIV cure suggests that reactivating HIV will activate cytotoxic pathways; yet when tested in vivo, reactivating cells do not die sufficiently to reduce cell-associated HIV DNA levels. We recently showed that following reactivation from latency, HIV infected cells generate the HIV specific cytotoxic protein Casp8p41 which is produced by HIV...

Large-scale metabolic interaction network of the mouse and human gut microbiota

Roktaek Lim, Josephine Jill T. Cabatbat, Thomas L. P. Martin, Haneul Kim, Seunghyeon Kim, Jaeyun Sung, Cheol-Min Ghim & Pan-Jun Kim
The role of our gut microbiota in health and disease is largely attributed to the collective metabolic activities of the inhabitant microbes. A system-level framework of the microbial community structure, mediated through metabolite transport, would provide important insights into the complex microbe-microbe and host-microbe chemical interactions. This framework, if adaptable to both mouse and human systems, would be useful for mechanistic interpretations of the vast amounts of experimental data from gut microbiomes in murine animal...

Data from: Immune checkpoint protein VSIG4 as a biomarker of aging in Murine adipose tissue

Brandon M. Hall, Anatoli S. Gleiberman, Evguenia Strom, Peter A. Krasnov, David Frescas, Slavoljub Vujcic, Olga V. Leontieva, Marina P. Antoch, Valeria Kogan, Igor E. Koman, Yi Zhu, Tamara Tchkonia, James L. Kirkland, Olga B. Chernova & Andrei V. Gudkov
Adipose tissue is recognized as a major source of systemic inflammation with age, driving age-related tissue dysfunction and pathogenesis. Macrophages (Mϕ) are central to these changes yet adipose tissue Mφ (ATMs) from aged mice remain poorly characterized. To identify biomarkers underlying changes in aged adipose tissue, we performed an unbiased RNA-seq analysis of ATMs from young (10-week old) and healthy aged (80-week old) mice. One of the genes identified, V-set immunoglobulin-domain-containing 4 (VSIG4/CRIg), encodes a...

Data from: Determining the genetic basis of anthracycline-cardiotoxicity by response QTL mapping in induced cardiomyocytes

David A. Knowles, Courtney K. Burrows, John D. Blischak, Kristen M. Patterson, Daniel J. Serie, Nadine Norton, Carole Ober, Jonathan K. Pritchard & Yoav Gilad
Anthracycline-induced cardiotoxicity (ACT) is a key limiting factor in setting optimal chemotherapy regimes, with almost half of patients expected to develop congestive heart failure given high doses. However, the genetic basis of sensitivity to anthracyclines remains unclear. We created a panel of iPSC-derived cardiomyocytes from 45 individuals and performed RNA-seq after 24h exposure to varying doxorubicin dosages. The transcriptomic response is substantial: the majority of genes are differentially expressed and over 6000 genes show evidence...

Rare missense functional variants at COL4A1 and COL4A2 in sporadic intracerebral hemorrhage

Jaeyoon Chung, Graham Hamilton, Minsup Kim, Sandro Marini, Bailey Montgomery, Jonathan Henry, Art Cho, Devin Brown, Bradford Worrall, James Meschia, Scott Silliman, Magdy Selim, David Tirschwell, Chelsea Kidwell, Brett Kissela, Steven Greenberg, Anand Viswanathan, Joshua Goldstein, Carl Langefeld, Kristiina Rannikmae, Catherine Sudlow, Neshika Samarasekera, Mark Rodrigues, Rustam Salman, James Prendergast … & Christopher Anderson
Objective To test the genetic contribution of rare missense variants in COL4A1 and COL4A2 in which common variants are genetically associated with sporadic intracerebral hemorrhage (ICH), we performed rare variant analysis in multiple sequencing data for the risk for sporadic ICH. Methods We performed sequencing across 559Kbp at 13q34 including COL4A1 and COL4A2 among 2,133 individuals (1,055 ICH cases; 1,078 controls) in US-based and 1,492 individuals (192 ICH cases; 1,300 controls) from Scotland-based cohorts, followed...

Data from: Clinical correlation of multiple sclerosis immunopathological subtypes

W. Oliver Tobin
Objective: To compare clinical characteristics across immunopathological subtypes of patients with multiple sclerosis. Methods: Immunopathological subtyping was performed on specimens from 547 patients with biopsy and/or autopsy confirmed CNS demyelination. Results: The frequency of immunopathological subtypes were pattern I (23%), II (56%), and III (22%). Immunopatterns were similar in terms of age at autopsy/biopsy (median age 41 years, range 4-83 years, p=0.16) and proportion female (54%, p=0.71). Median follow-up after symptom onset was 2.3 years...

Data from: Clinical spectrum of STX1B-related epileptic disorders

Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stoehr, Peter Widdess-Walsh, Bryce A. Mendelsohn, Adam Numis, Maria R. Cilio, Wim Van Paesschen, Lene L. Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sifuentes Saenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris V. Vavoulis … & Julian Schubert
Objective: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. Methods: We used next generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. Results: We...

A new gene set identifies senescent cells and predicts senescence-associated pathways across tissues

Dominik Saul
Although cellular senescence drives multiple age-related co-morbidities through the senescence-associated secretory phenotype (SASP), in vivo senescent cell identification remains challenging. Here, we generated a gene set (SenMayo) and validated its enrichment in bone biopsies from two aged human cohorts. We further demonstrated reductions in SenMayo in bone following genetic clearance of senescent cells in mice and in adipose tissue from humans following pharmacological senescent cell clearance. We next used SenMayo to identify senescent hematopoietic or...

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