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Sperling M

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https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27825022/implementation-of-subjective-cognitive-decline-criteria-in-research-studies
#2
José L Molinuevo, Laura A Rabin, Rebecca Amariglio, Rachel Buckley, Bruno Dubois, Kathryn A Ellis, Michael Ewers, Harald Hampel, Stefan Klöppel, Lorena Rami, Barry Reisberg, Andrew J Saykin, Sietske Sikkes, Colette M Smart, Beth E Snitz, Reisa Sperling, Wiesje M van der Flier, Michael Wagner, Frank Jessen
INTRODUCTION: Subjective cognitive decline (SCD) manifesting before clinical impairment could serve as a target population for early intervention trials in Alzheimer's disease (AD). A working group, the Subjective Cognitive Decline Initiative (SCD-I), published SCD research criteria in the context of preclinical AD. To successfully apply them, a number of issues regarding assessment and implementation of SCD needed to be addressed. METHODS: Members of the SCD-I met to identify and agree on topics relevant to SCD criteria operationalization in research settings...
November 5, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27806159/association-of-higher-cortical-amyloid-burden-with-loneliness-in-cognitively-normal-older-adults
#3
Nancy J Donovan, Olivia I Okereke, Patrizia Vannini, Rebecca E Amariglio, Dorene M Rentz, Gad A Marshall, Keith A Johnson, Reisa A Sperling
Importance: Emotional and behavioral symptoms in cognitively normal older people may be direct manifestations of Alzheimer disease (AD) pathophysiology at the preclinical stage, prior to the onset of mild cognitive impairment. Loneliness is a perceived state of social and emotional isolation that has been associated with cognitive and functional decline and an increased risk of incident AD dementia. We hypothesized that loneliness might occur in association with elevated cortical amyloid burden, an in vivo research biomarker of AD...
November 2, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27798509/multicenter-study-of-temporal-trends-in-the-achievement-of-atherosclerotic-cardiovascular-disease-risk-factor-goals-during-cardiac-rehabilitation
#4
Neil F Gordon, Richard D Salmon, Laurence S Sperling, Brenda S Wright, George C Faircloth, Terri L Gordon, Martin R Berk, Melvyn Rubenfire, Barry A Franklin
PURPOSE: Secondary prevention risk factor goals have been established by the American Heart Association/American College of Cardiology, and the American Heart Association has further delineated ideal cardiovascular health metrics. We evaluated risk factor goal achievement during early-outpatient cardiac rehabilitation (CR) and temporal trends in risk factor control. METHODS: Patients completed assessments on entry into and exit from CR at 35 centers between 2000 and 2009 and were categorized into 3 cohorts: entire (N = 12 984), 2000-2004 (n = 5468), and 2005-2009 (n = 7516) cohorts...
October 28, 2016: Journal of Cardiopulmonary Rehabilitation and Prevention
https://www.readbyqxmd.com/read/27796416/-intraoperative-multidimensional-visualization
#5
J Sperling, A Kauffels, M Grade, F Alves, P Kühn, B M Ghadimi
Modern intraoperative techniques of visualization are increasingly being applied in general and visceral surgery. The combination of diverse techniques provides the possibility of multidimensional intraoperative visualization of specific anatomical structures. Thus, it is possible to differentiate between normal tissue and tumor tissue and therefore exactly define tumor margins. The aim of intraoperative visualization of tissue that is to be resected and tissue that should be spared is to lead to a rational balance between oncological and functional results...
December 2016: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/27751558/research-priorities-to-reduce-the-global-burden-of-dementia-by-2025
#6
REVIEW
Hiral Shah, Emiliano Albanese, Cynthia Duggan, Igor Rudan, Kenneth M Langa, Maria C Carrillo, Kit Yee Chan, Yves Joanette, Martin Prince, Martin Rossor, Shekhar Saxena, Heather M Snyder, Reisa Sperling, Mathew Varghese, Huali Wang, Marc Wortmann, Tarun Dua
At the First WHO Ministerial Conference on Global Action Against Dementia in March, 2015, 160 delegates, including representatives from 80 WHO Member States and four UN agencies, agreed on a call for action to reduce the global burden of dementia by fostering a collective effort to advance research. To drive this effort, we completed a globally representative research prioritisation exercise using an adapted version of the Child Health and Nutrition Research Initiative method. We elicited 863 research questions from 201 participants and consolidated these questions into 59 thematic research avenues, which were scored anonymously by 162 researchers and stakeholders from 39 countries according to five criteria...
November 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27738998/cognitive-resilience-in-clinical-and-preclinical-alzheimer-s-disease-the-association-of-amyloid-and-tau-burden-on-cognitive-performance
#7
Dorene M Rentz, Elizabeth C Mormino, Kathryn V Papp, Rebecca A Betensky, Reisa A Sperling, Keith A Johnson
We explored the cross-sectional relationships between β-amyloid (Aβ) and inferior temporal tau deposition (IFT Tau) on cognitive performance and whether cognitive reserve (CR) modifies these associations. We studied 156 participants classified into groups of clinically normal (CN = 133), mild cognitive impairment (MCI = 17) and Alzheimer disease (AD = 6) dementia. AMNART IQ served as a proxy of CR and cognitive performance was assessed using the MMSE. In separate linear regression models predicting MMSE, we examined the interactions of CR x global Aβ and CR x IFT tau across all participants and within the CN group alone...
October 13, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27724996/the-influence-of-demographic-factors-on-subjective-cognitive-concerns-and-beta-amyloid
#8
Sarah L Aghjayan, Rachel F Buckley, Patrizia Vannini, Dorene M Rentz, Jonathan D Jackson, Reisa A Sperling, Keith A Johnson, Rebecca E Amariglio
BACKGROUND: Converging evidence suggests that subjective cognitive concerns (SCC) are associated with biomarker evidence of Alzheimer's disease (AD) prior to objective clinical impairment. However, the sensitivity of SCC reports in early AD may be biased by demographic factors. Here, we sought to investigate whether age, education, and sex influence the relationship between SCC and amyloid (Aβ) burden. METHODS: In this cross-sectional study, we examined 252 clinically normal (CN) individuals (57...
October 11, 2016: International Psychogeriatrics
https://www.readbyqxmd.com/read/27720142/patient-characteristics-associated-with-greater-blood-pressure-control-in-a-randomized-trial-of-home-blood-pressure-telemonitoring-and-pharmacist-management
#9
Stephen E Asche, Patrick J O'Connor, Steven P Dehmer, Beverly B Green, Anna R Bergdall, Michael V Maciosek, Rachel A Nyboer, Pamala A Pawloski, JoAnn M Sperl-Hillen, Nicole K Trower, Karen L Margolis
This paper reports subgroup analysis of a successful cluster-randomized trial to identify attributes of hypertensive patients who benefited more or less from an intervention combining blood pressure (BP) telemonitoring and pharmacist management. The end point was BP < 140/90 mm Hg at 6-month follow-up. Fourteen baseline patient characteristics were selected a priori as subgroup variables. Among the 351 trial participants, 44% were female, 84% non-Hispanic white, mean age was 60.9 years, and mean BP was 149/86 mm Hg...
November 2016: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/27716863/severe-vitamin-d-deficiency-in-human-immunodeficiency-virus-infected-pregnant-women-is-associated-with-preterm-birth
#10
Jennifer Jao, Laura Freimanis, Marisa M Mussi-Pinhata, Rachel A Cohen, Jacqueline Pontes Monteiro, Maria Leticia Cruz, Andrea Branch, Rhoda S Sperling, George K Siberry
Background Low maternal vitamin D has been associated with preterm birth (PTB). Human immunodeficiency virus (HIV)-infected pregnant women are at risk for PTB, but data on maternal vitamin D and PTB in this population are scarce. Methods In a cohort of Latin American HIV-infected pregnant women from the National Institute of Child Health and Human Development International Site Development Initiative protocol, we examined the association between maternal vitamin D status and PTB. Vitamin D status was defined as the following 25-hydroxyvitamin D levels: severe deficiency (< 10 ng/mL), deficiency (10-20 ng/mL), insufficiency (21-29 ng/mL), and sufficiency (≥30 ng/mL)...
October 7, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27692115/comprehensive-cardiovascular-risk-reduction-and-cardiac-rehabilitation-in-diabetes-and-the-metabolic-syndrome
#11
Robert E Heinl, Devinder S Dhindsa, Elliot N Mahlof, William M Schultz, Johnathan C Ricketts, Tina Varghese, Amirhossein Esmaeeli, Marc P Allard-Ratick, Anthony J Millard, Heval M Kelli, Pratik B Sandesara, Danny J Eapen, Laurence Sperling
The epidemic of obesity has contributed to a growing burden of metabolic syndrome (MetS) and diabetes mellitus (DM) worldwide. MetS is defined as central obesity along with associated factors such as hypertriglyceridemia, low high-density lipoprotein cholesterol, hyperglycemia, and hypertension. MetS and DM are associated with significant cardiovascular morbidity and mortality. Healthy behavioural modification is the cornerstone for reducing the atherosclerotic cardiovascular disease burden in this population...
October 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27649320/correction-quantitative-amyloid-imaging-in-autosomal-dominant-alzheimer-s-disease-results-from-the-dian-study-group
#12
Yi Su, Tyler M Blazey, Christopher J Owen, Jon J Christensen, Karl Friedrichsen, Nelly Joseph-Mathurin, Qing Wang, Russ C Hornbeck, Beau M Ances, Abraham Z Snyder, Lisa A Cash, Robert A Koeppe, William E Klunk, Douglas Galasko, Adam M Brickman, Eric McDade, John M Ringman, Paul M Thompson, Andrew J Saykin, Bernardino Ghetti, Reisa A Sperling, Keith A Johnson, Stephen P Salloway, Peter R Schofield, Colin L Masters, Victor L Villemagne, Nick C Fox, Stefan Förster, Kewei Chen, Eric M Reiman, Chengjie Xiong, Daniel S Marcus, Michael W Weiner, John C Morris, Randall J Bateman, Tammie L S Benzinger
[This corrects the article DOI: 10.1371/journal.pone.0152082.].
2016: PloS One
https://www.readbyqxmd.com/read/27593404/re-long-term-effects-of-prenatal-progesterone-exposure-neurophysiological-development-and-hospital-admissions-in-twins-up-to-8-years-of-age-c-vedel-h-larsen-a-holmskov-k-r-andreasen-n-uldbjerg-j-ramb-b-b%C3%A3-dker-l-skibsted-l-sperling-l-krebs-h-zingenberg-l-laursen
#13
https://www.readbyqxmd.com/read/27588857/quantum-correlations-from-the-conditional-statistics-of-incomplete-data
#14
J Sperling, T J Bartley, G Donati, M Barbieri, X-M Jin, A Datta, W Vogel, I A Walmsley
We study, in theory and experiment, the quantum properties of correlated light fields measured with click-counting detectors providing incomplete information on the photon statistics. We establish a correlation parameter for the conditional statistics, and we derive the corresponding nonclassicality criteria for detecting conditional quantum correlations. Classical bounds for Pearson's correlation parameter are formulated that allow us, once they are violated, to determine nonclassical correlations via the joint statistics...
August 19, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27588520/a-dna-target-enrichment-approach-to-detect-mutations-copy-number-changes-and-immunoglobulin-translocations-in-multiple-myeloma
#15
N Bolli, Y Li, V Sathiaseelan, K Raine, D Jones, P Ganly, F Cocito, G Bignell, M A Chapman, A S Sperling, K C Anderson, H Avet-Loiseau, S Minvielle, P J Campbell, N C Munshi
Genomic lesions are not investigated during routine diagnostic workup for multiple myeloma (MM). Cytogenetic studies are performed to assess prognosis but with limited impact on therapeutic decisions. Recently, several recurrently mutated genes have been described, but their clinical value remains to be defined. Therefore, clinical-grade strategies to investigate the genomic landscape of myeloma samples are needed to integrate new and old prognostic markers. We developed a target-enrichment strategy followed by next-generation sequencing (NGS) to streamline simultaneous analysis of gene mutations, copy number changes and immunoglobulin heavy chain (IGH) translocations in MM in a high-throughput manner, and validated it in a panel of cell lines...
September 2, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27578492/age-related-increases-in-tip-of-the-tongue-are-distinct-from-decreases-in-remembering-names-a-functional-mri-study
#16
Willem Huijbers, Kathryn V Papp, Molly LaPoint, Sarah E Wigman, Alex Dagley, Trey Hedden, Dorene M Rentz, Aaron P Schultz, Reisa A Sperling
Tip-of-the-tongue (TOT) experiences increase with age and frequently heighten concerns about memory decline. We studied 73 clinically normal older adults participating in the Harvard Aging Brain Study. They completed a functional magnetic resonance imaging (fMRI) task that required remembering names associated with pictures of famous faces. Older age was associated with more self-reported TOT experiences and a decrease in the percentage of remembered names. However, the percentage of TOT experiences and the percentage of remembered names were not directly correlated...
August 30, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27548655/heterogeneity-in-suspected-non-alzheimer-disease-pathophysiology-among-clinically-normal-older-individuals
#17
Elizabeth C Mormino, Kathryn V Papp, Dorene M Rentz, Aaron P Schultz, Molly LaPoint, Rebecca Amariglio, Bernard Hanseeuw, Gad A Marshall, Trey Hedden, Keith A Johnson, Reisa A Sperling
Importance: A substantial proportion of clinically normal (CN) older individuals are classified as having suspected non-Alzheimer disease pathophysiology (SNAP), defined as biomarker negative for β-amyloid (Aβ-) but positive for neurodegeneration (ND+). The etiology of SNAP in this population remains unclear. Objective: To determine whether CN individuals with SNAP show evidence of early Alzheimer disease (AD) processes (ie, elevated tau levels and/or increased risk for cognitive decline)...
October 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27523597/sudden-cardiac-death-due-to-deficiency-of-the-mitochondrial-inorganic-pyrophosphatase-ppa2
#18
Hannah Kennedy, Tobias B Haack, Verity Hartill, Lavinija Mataković, E Regula Baumgartner, Howard Potter, Richard Mackay, Charlotte L Alston, Siobhan O'Sullivan, Robert McFarland, Grainne Connolly, Caroline Gannon, Richard King, Scott Mead, Ian Crozier, Wandy Chan, Chris M Florkowski, Martin Sage, Thomas Höfken, Bader Alhaddad, Laura S Kremer, Robert Kopajtich, René G Feichtinger, Wolfgang Sperl, Richard J Rodenburg, Jean Claude Minet, Angus Dobbie, Tim M Strom, Thomas Meitinger, Peter M George, Colin A Johnson, Robert W Taylor, Holger Prokisch, Kit Doudney, Johannes A Mayr
We have used whole-exome sequencing in ten individuals from four unrelated pedigrees to identify biallelic missense mutations in the nuclear-encoded mitochondrial inorganic pyrophosphatase (PPA2) that are associated with mitochondrial disease. These individuals show a range of severity, indicating that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes. Severe symptoms include seizures, lactic acidosis, cardiac arrhythmia, and death within days of birth. In the index family, presentation was milder and manifested as cardiac fibrosis and an exquisite sensitivity to alcohol, leading to sudden arrhythmic cardiac death in the second decade of life...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27520482/biotic-degradation-at-night-abiotic-degradation-at-day-positive-feedbacks-on-litter-decomposition-in-drylands
#19
Daniel Gliksman, Ana Rey, Ron Seligmann, Rita Dumbur, Or Sperling, Yael Navon, Sabine Haenel, Paolo De Angelis, John A Arnone, José M Grünzweig
The arid and semi-arid drylands of the world are increasingly recognized for their role in the terrestrial net carbon dioxide (CO2 ) uptake, which depends largely on plant litter decomposition and the subsequent release of CO2 back to the atmosphere. Observed decomposition rates in drylands are higher than predictions by biogeochemical models, which are traditionally based on microbial (biotic) degradation enabled by precipitation as the main mechanism of litter decomposition. Consequently, recent research in drylands has focused on abiotic mechanisms, mainly photochemical and thermal degradation, but they only partly explain litter decomposition under dry conditions, suggesting the operation of an additional mechanism...
August 13, 2016: Global Change Biology
https://www.readbyqxmd.com/read/27518660/innate-immunity-and-asthma-risk-in-amish-and-hutterite-farm-children
#20
Michelle M Stein, Cara L Hrusch, Justyna Gozdz, Catherine Igartua, Vadim Pivniouk, Sean E Murray, Julie G Ledford, Mauricius Marques dos Santos, Rebecca L Anderson, Nervana Metwali, Julia W Neilson, Raina M Maier, Jack A Gilbert, Mark Holbreich, Peter S Thorne, Fernando D Martinez, Erika von Mutius, Donata Vercelli, Carole Ober, Anne I Sperling
BACKGROUND: The Amish and Hutterites are U.S. agricultural populations whose lifestyles are remarkably similar in many respects but whose farming practices, in particular, are distinct; the former follow traditional farming practices whereas the latter use industrialized farming practices. The populations also show striking disparities in the prevalence of asthma, and little is known about the immune responses underlying these disparities. METHODS: We studied environmental exposures, genetic ancestry, and immune profiles among 60 Amish and Hutterite children, measuring levels of allergens and endotoxins and assessing the microbiome composition of indoor dust samples...
August 4, 2016: New England Journal of Medicine
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